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 (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PCDHA12_chr5_140870308_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	260	0.0039	40	c.236 others(61): Show c.2368-32317_2368-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA12	ENSG00000251664.5	transcript	ENST00000398631.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA13_chr5_140877124_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	260	0.0039	40	c.239 others(61): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA13	ENSG00000239389.8	transcript	ENST00000289272.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA1_chr5_140781140_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0094 a0001c0005t0001g0094	1	200	0.0050	40	c.239 others(61): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA1	ENSG00000204970.10	transcript	ENST00000504120.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA2_chr5_140789852_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	202	0.0050	40	c.238 others(61): Show c.2389-32317_2389-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA2	ENSG00000204969.7	transcript	ENST00000526136.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA3_chr5_140796057_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	208	0.0048	40	c.239 others(61): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA3	ENSG00000255408.4	transcript	ENST00000522353.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA4_chr5_140802068_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	212	0.0047	40	c.238 others(61): Show c.2386-32317_2386-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA4	ENSG00000204967.13	transcript	ENST00000530339.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA5_chr5_140816613_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	220	0.0046	40	c.235 others(61): Show c.2353-32317_2353-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA5	ENSG00000204965.9	transcript	ENST00000529859.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA6_chr5_140822960_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0014 a0002c0003t0001g0014	1	236	0.0042	40	c.239 others(61): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA6	ENSG00000081842.18	transcript	ENST00000529310.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA7_chr5_140829269_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0077 a0002c0011t0001g0077	1	248	0.0040	40	c.235 others(61): Show c.2356-32317_2356-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA7	ENSG00000204963.6	transcript	ENST00000525929.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA8_chr5_140836187_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0025 a0003c0003t0001g0025	1	258	0.0039	40	c.239 others(61): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA8	ENSG00000204962.6	transcript	ENST00000531613.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA9_chr5_140843382_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0010 a0012c0012t0010	a0012c0012t0010g0229 a0012c0012t0010g0229	1	256	0.0039	40	c.239 others(61): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATATACA	PCDHA9	ENSG00000204961.7	transcript	ENST00000532602.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHAC1_chr5_140921299_141017347	140946631	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0216 a0001c0003t0001g0216	1	280	0.0036	40	c.243 others(61): Show c.2433+17307_2433+17308insTATATATATATATATATATATATA TATATATATATATACA	PCDHAC1	ENSG00000248383.5	transcript	ENST00000253807.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHB13_chr5_141208919_141223979	141221429	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0000 a0003c0003t0003g0000	1	428	0.0023	40	c.49 others(51): Show c.4909_*4910insTATATATATATATATATATATATATATATATATA TATATA	PCDHB13	ENSG00000187372.11	transcript	ENST00000341948.6	protein_coding		2451		chr5	TogoVar
PCDHB14_chr5_141218343_141232759	141221429	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0000 a0001c0004t0004g0000	1	448	0.0022	40	c.-20 others(51): Show c.-2077_-2076insTATATATATATATATATATATATATATATATATA TATATA	PCDHB14	ENSG00000120327.7	transcript	ENST00000239449.7	protein_coding		1913		chr5	TogoVar
PCDHGA1_chr5_141325514_141517975	141347137	C C	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0222 a0001c0007t0007g0222	1	268	0.0037	40	c.242 others(61): Show c.2421+14037_2421+14076dupTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141347137	C C	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0165 a0003c0003t0004g0165	1	272	0.0037	40	c.242 others(59): Show c.2424+5747_2424+5786dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141347137	C C	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0266 a0001c0001t0004g0266	1	270	0.0037	40	c.242 others(57): Show c.2424+685_2424+724dupTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141347137	C C	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0134 a0001c0001t0004g0134	1	278	0.0036	40	c.-31 others(51): Show c.-3124_-3123insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding		2961		chr5	TogoVar
PCED1A_chr20_2830314_2845655	2842860	C C	CGATAGAT others(33): Show CGATAGATAGATAGATAGATGTATCGATAGATAGATAGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0039 a0001c0009t0001g0039	1	436	0.0023	40	c.-26 others(51): Show c.-2672_-2671insCATCTATCTATCTATCGATACATCTATCTATCTA TCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2206		chr20	TogoVar
PCGF3_chr4_700832_775089	701973	C C	CAAAGAAA others(33): Show CAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0288 a0001c0001t0004g0288	1	366	0.0027	40	c.-41 others(51): Show c.-4187_-4186insAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGA	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding		3858		chr4	TogoVar
PCK1_chr20_57556110_57573121	57559118	A A	AGGGGGGG others(33): Show AGGGGGGGGGGGGGGGGGGACAGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0002 a0002c0002t0008g0002	1	468	0.0021	40	c.-21 others(51): Show c.-2126_-2125insGGGGGGGGGGGGGGGGGGACAGGGGGGGGGGGGG GGGGGG	PCK1	ENSG00000124253.11	transcript	ENST00000319441.6	protein_coding		1991		chr20	TogoVar
PCNX1_chr14_70902459_71120382	70910058	T T	TCCCCCCC others(33): Show TCCCCCCCCCTCCTCCCCCTCCTCCCCCTCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18991.hp2 HG04204.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0153 a0001c0001t0010g0152 a0001c0001t0004g0153 a0001c0001t0010g0152	2	352	0.0057	40	c.153 others(57): Show c.153+2057_153+2058insCCCCCCCTCCTCCCCCTCCTCCCCCTCC TCCTCCTCCCCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCSK2_chr20_17222040_17489578	17391906	G G	GAGGAAGG others(33): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0088 a0001c0001t0016g0088	1	274	0.0037	40	c.544 others(59): Show c.544-17353_544-17314dupAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGG	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK2_chr20_17222040_17489578	17484865	G G	GATAGAAT others(33): Show GATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG02622.hp1 NA18947.hp1 HG00280.hp2 HG02622.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0026 a0001c0001t0004 a0001c0001t0006 a0001c0001t0026	a0001c0001t0004g0187 a0001c0001t0006g0158 a0001c0001t0026g0153 a0001c0001t0004g0187 a0001c0001t0006g0158 a0001c0001t0026g0153	3	274	0.0110	40	c.27 others(51): Show c.2795_*2796insATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGA	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding		288		chr20	TogoVar
PCSK4_chr19_1476428_1495350	1493708	G G	GACACACA others(33): Show GACACACACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	400	0.0025	40	c.-33 others(51): Show c.-3363_-3362insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	PCSK4	ENSG00000115257.15	transcript	ENST00000300954.10	protein_coding		3359		chr19	TogoVar
PCSK5_chr9_75885673_76367975	76351447	G G	GGAAAGAA others(33): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	166	0.0060	40	c.506 others(57): Show c.5067+565_5067+604dupAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAG	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	36/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76351523	A A	AGAAGGAA others(33): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0006	a0003c0005t0006g0033 a0003c0005t0006g0033	1	166	0.0060	40	c.506 others(57): Show c.5067+598_5067+599insGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	36/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101412691	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03195.hp2 HG01167.hp1 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0045 a0001c0003 a0001c0045	a0001c0003t0002 a0001c0045t0001 a0001c0003t0002 a0001c0045t0001	a0001c0003t0002g0059 a0001c0045t0001g0194 a0001c0003t0002g0059 a0001c0045t0001g0194	2	336	0.0060	40	c.824 others(59): Show c.824-14116_824-14115insTATATATATATATATATATATATATA TATATATATATATA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	6/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493807	A A	AGAGCCTT others(33): Show AGAGCCTTTCATTGTTCCATCTTTAGAGAGGCATCTCCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0059 a0001c0003t0002g0059	1	336	0.0030	40	c.-41 others(51): Show c.-4177_-4138dupACAGGAGATGCCTCTCTAAAGATGGAACAATGAA AGGCTC	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		4101		chr15	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18747.hp2 NA18964.hp2 others(1): Show HG03831.hp2 NA18747.hp2 NA18964.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0199 a0001c0001t0002g0316 a0001c0001t0002g0387 others(1): Show a0001c0001t0002g0199 a0001c0001t0002g0316 a0001c0001t0002g0387 a0001c0001t0003g0251	4	460	0.0087	40	c.153 others(59): Show c.1534+3085_1534+3086insTATATATATATATATATATATATACA CACACACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp1 HG03540.hp2 others(2): Show HG02145.hp1 HG02970.hp1 HG03540.hp2 NA19055.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0198 a0001c0001t0002g0307 a0001c0001t0003g0289 others(2): Show a0001c0001t0002g0198 a0001c0001t0002g0307 a0001c0001t0003g0289 a0001c0001t0004g0126 a0001c0001t0004g0388	5	460	0.0109	40	c.153 others(59): Show c.1534+3085_1534+3086insTATATATATATATATATATATACACA CACACACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02300.hp1 HG03490.hp2 others(2): Show HG02080.hp2 HG02300.hp1 HG03490.hp2 HG03492.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0283 a0001c0001t0003g0009 a0001c0001t0003g0302 others(1): Show a0001c0001t0002g0283 a0001c0001t0003g0009 a0001c0001t0003g0302 a0001c0002t0001g0286	5	460	0.0109	40	c.153 others(59): Show c.1534+3085_1534+3086insTATATATATATATATATATACACACA CACACACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03041.hp2 NA20129.hp2 HG02809.hp1 HG03041.hp2 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0170 a0001c0007t0004g0411 a0001c0007t0004g0412 a0001c0007t0004g0170 a0001c0007t0004g0411 a0001c0007t0004g0412	3	460	0.0065	40	c.153 others(59): Show c.1534+3085_1534+3086insTATATATACACACACACACACACACA CACACACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCYOX1L_chr5_149353046_149374653	149370033	T T	TTTTTTTT others(33): Show TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	372	0.0027	40	c.13 others(51): Show c.1379_*1380insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTC	PCYOX1L	ENSG00000145882.11	transcript	ENST00000274569.9	protein_coding		381		chr5	TogoVar
PCYT1A_chr3_196229368_196292726	196246896	T T	TTTGTGGC others(33): Show TTTGTGGCGAGTTCAGTTCCCAGCCCTGCCAGTGGTGTAAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	310	0.0032	40	c.486 others(55): Show c.486+431_486+470dupGTTACACCACTGGCAGGGCTGGGAACTGAA CTCGCCACAA	PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	5/8			chr3	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAA others(33): Show AAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0178 a0001c0002t0003g0178	1	260	0.0039	40	c.117 others(57): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATTTTTTTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAA others(33): Show AAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18995.hp1 HG01496.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0123 a0001c0001t0017g0098 a0001c0001t0001g0123 a0001c0001t0017g0098	2	260	0.0077	40	c.117 others(57): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATTTTTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA19007.hp1 HG02523.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0045 a0001c0001t0041 a0001c0001t0045	a0001c0001t0041g0104 a0001c0001t0045g0096 a0001c0001t0041g0104 a0001c0001t0045g0096	2	260	0.0077	40	c.117 others(57): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATATTTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637509	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0162 a0001c0001t0081g0162	1	260	0.0039	40	c.117 others(57): Show c.117+9479_117+9480insTTATTTATATATATATATATATATATAT ATATATATATAT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637509	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0102 a0001c0001t0024g0102	1	260	0.0039	40	c.117 others(57): Show c.117+9479_117+9480insTTTTATATATATATATATATATATATAT ATATATATATAT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PC_chr11_66843420_66963383	66959935	A A	ATATATAT others(33): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	274	0.0037	40	c.-18 others(51): Show c.-1842_-1841insAAAAAAAAAAAAAAAAAATATATATATATATATA TATATA	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding		1553		chr11	TogoVar
PDCD6_chr5_266646_319974	298822	C C	CCAGCTGC others(33): Show CCAGCTGCTCCCCCCCAGCTGCTCCCCCCAGCTGCTCCCCG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	360	0.0028	40	c.164 others(57): Show c.164-5354_164-5353insAGCTGCTCCCCCCCAGCTGCTCCCCCCA GCTGCTCCCCGC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	318511	A A	AGGAGAAA others(33): Show AGGAGAAACTGGTGTGGGAGAGGGAACCCAGGCGTGACCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG00741.hp1 others(15): Show HG00280.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG02004.hp1 HG02683.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0158 others(13): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0244 a0001c0001t0001g0261 a0001c0001t0001g0262	18	360	0.0500	40	c.39 others(51): Show c.3996_*3997insGGAGAAACTGGTGTGGGAGAGGGAACCCAGGCGT GACCAG	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3538		chr5	TogoVar
PDC_chr1_186438566_186466114	186455994	A A	AAAAAAAA others(33): Show AAAAAAAATATATATATATATATATATATATGCATGCATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03540.hp1 HG02895.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0063 a0001c0001t0003g0064	2	404	0.0050	40	c.-25 others(57): Show c.-25+5064_-25+5065insATATGCATGCATATATATATATATATAT ATATATTTTTTT	PDC	ENSG00000116703.14	transcript	ENST00000391997.3	protein_coding	1/3			chr1	TogoVar
PDE10A_chr6_165322289_165668241	165619547	G G	GTCTAATG others(33): Show GTCTAATGTAGCGTAGTGTAGTGTAGTCTAGCGTAGTGTAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02257.hp2 HG02895.hp2 others(4): Show HG01167.hp1 HG02257.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03453.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0026 a0002c0013 a0001c0001 a0001c0026 a0002c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0026t0004 a0002c0013t0031 a0002c0013t0035	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0002g0177 others(4): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0002g0177 a0001c0001t0006g0033 a0001c0026t0004g0109 a0002c0013t0031g0203 a0002c0013t0035g0220	7	222	0.0315	40	c.865 others(59): Show c.865+42399_865+42400insGTACACTACGCTAGACTACACTACAC TACGCTACATTAGA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PDE10A_chr6_165322289_165668241	165619558	T T	TGTAGTGT others(33): Show TGTAGTGTAGTCTAATGTAGCGTAGTGTACTGTAGTCTAGC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02738.hp2 NA18951.hp1 others(2): Show HG01346.hp2 HG02738.hp2 NA18951.hp1 NA19010.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0038 a0001c0001t0001g0039	5	222	0.0225	40	c.865 others(59): Show c.865+42388_865+42389insGCTAGACTACAGTACACTACGCTACA TTAGACTACACTAC	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PDE11A_chr2_177618244_178077777	177881341	G G	GTCTATCT others(33): Show GTCTATCTATCTATCTATCTTATCTATCATCTATCTGTCTA	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18906.hp1 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0060 a0001c0010t0002 a0001c0001t0060 a0001c0010t0002	a0001c0001t0060g0080 a0001c0010t0002g0022 a0001c0001t0060g0080 a0001c0010t0002g0022	2	170	0.0118	40	c.130 others(59): Show c.1303-5419_1303-5418insTAGACAGATAGATGATAGATAAGATA GATAGATAGATAGA	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	4/19			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182264878	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01993.hp1 NA18963.hp1 HG01928.hp1 HG01993.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0017 a0001c0001t0031 a0001c0001t0012 a0001c0001t0017 a0001c0001t0031	a0001c0001t0012g0167 a0001c0001t0017g0139 a0001c0001t0031g0033 a0001c0001t0012g0167 a0001c0001t0017g0139 a0001c0001t0031g0033	3	264	0.0114	40	c.54- others(53): Show c.54-465_54-464insATATATATATATATATATATATATATATATAT ATATATAT	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182317525	G G	GATGAGTG others(33): Show GATGAGTGCTGCAACAAGGAAAAGCAGAGGCATACATAACA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0108 a0001c0001t0023g0108	1	264	0.0038	40	c.54- others(57): Show c.54-53151_54-53112dupTGTTATGTATGCCTCTGCTTTTCCTTGT TGCAGCACTCAT	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182386629	C C	CGAGGAGC others(33): Show CGAGGAGCCCCTCCGCCCGGCAGCCGCCCCATCTGAGAAGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02451.hp2 HG02647.hp2 others(5): Show HG01081.hp1 HG02451.hp2 HG02647.hp2 HG02717.hp2 HG02970.hp2 HG02976.hp2 HG03453.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 others(2): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019	a0001c0001t0003g0048 a0001c0001t0008g0023 a0001c0001t0008g0261 others(5): Show a0001c0001t0003g0048 a0001c0001t0008g0023 a0001c0001t0008g0261 a0001c0001t0013g0046 a0001c0001t0015g0008 a0001c0001t0015g0047 a0001c0001t0015g0049 a0001c0001t0019g0234	8	264	0.0303	40	c.53+ others(57): Show c.53+39909_53+39948dupACTTCTCAGATGGGGCGGCTGCCGGGCG GAGGGGCTCCTC	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar

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Search Results (Total: 6641 hits)