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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
PSME4_chr2_53859069_53975993	53873247	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0378 a0004c0008t0001g0378	1	384	0.0026	17	c.510 others(36): Show c.5100+1091_5100+1092insCTTTTTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	43/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53876716	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03225.hp2 HG02559.hp2 HG03225.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0012 a0001c0007t0006g0014 a0001c0007t0006g0012 a0001c0007t0006g0014	2	384	0.0052	17	c.481 others(34): Show c.4816-978_4816-962dupAAAAAAAAAAAAAAAAA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	41/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01081.hp1 others(2): Show HG00639.hp2 HG00642.hp2 HG01081.hp1 HG01255.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0026 a0001c0001t0047 others(1): Show a0001c0001t0004 a0001c0001t0026 a0001c0001t0047 a0001c0001t0066	a0001c0001t0004g0016 a0001c0001t0004g0219 a0001c0001t0026g0016 others(2): Show a0001c0001t0004g0016 a0001c0001t0004g0219 a0001c0001t0026g0016 a0001c0001t0047g0225 a0001c0001t0066g0206	5	326	0.0153	17	c.366 others(34): Show c.366-1551_366-1550insATATATATATATTTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMG1_chr21_39169769_39188451	39181718	A A	AAGTATAT others(10): Show AAGTATATTTCATTCTTT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0052 a0001c0004t0004g0052	1	392	0.0026	17	c.241 others(30): Show c.241+37_241+53dupAAAGAATGAAATATACT	PSMG1	ENSG00000183527.12	transcript	ENST00000331573.8	protein_coding	2/6			chr21	TogoVar
PSMG1_chr21_39169769_39188451	39185295	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01099.hp2 HG01515.hp2 others(3): Show HG00642.hp2 HG01099.hp2 HG01515.hp2 HG01517.hp2 HG01952.hp1 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0006 a0001c0003t0003g0022 a0001c0003t0003g0006 a0001c0003t0003g0022	6	392	0.0153	17	c.-19 others(28): Show c.-1927_-1911dupTTTTTTTTTTTTTTTTT	PSMG1	ENSG00000183527.12	transcript	ENST00000331573.8	protein_coding		1845		chr21	TogoVar
PSPC1_chr13_19697500_19787945	19730946	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	258	0.0039	17	c.105 others(34): Show c.1053-603_1053-602insTTTTTTTTTTTTTTTTT	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	5/8			chr13	TogoVar
PSTPIP2_chr18_45978536_46077260	45988435	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02818.hp1 HG01891.hp1 HG02818.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0256 a0002c0003t0002g0259 a0002c0003t0002g0256 a0002c0003t0002g0259	2	316	0.0063	17	c.8+ others(30): Show c.8+266_*8+267insTTTTTTTTTTTTTTTTT	PSTPIP2	ENSG00000152229.18	transcript	ENST00000409746.5	protein_coding	14/14			chr18	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0350 a0001c0002t0001g0350	1	364	0.0028	17	c.905 others(34): Show c.905-5503_905-5487dupTTTTTTTTTTTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112232012	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02698.hp1 NA18950.hp1 HG01934.hp2 HG02698.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0011 a0001c0001t0001 a0001c0002t0011	a0001c0001t0001g0115 a0001c0001t0001g0159 a0001c0002t0011g0192 a0001c0001t0001g0115 a0001c0001t0001g0159 a0001c0002t0011g0192	3	342	0.0088	17	c.102 others(32): Show c.1020+86_1020+87insCTTTCTTTCTTTCTTTC	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	9/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112244289	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01175.hp2 HG01243.hp1 others(22): Show HG00673.hp1 HG01175.hp2 HG01243.hp1 HG01891.hp1 HG02647.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03130.hp1 HG03471.hp2 HG03831.hp1 HG04204.hp1 NA18747.hp2 NA18939.hp2 NA18956.hp1 NA18966.hp2 NA18971.hp2 NA18977.hp1 NA18980.hp2 NA18984.hp1 NA19000.hp1 NA19043.hp2 NA19070.hp2 NA19085.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011	a0001c0001t0001g0096 a0001c0001t0001g0111 a0001c0001t0001g0138 others(22): Show a0001c0001t0001g0096 a0001c0001t0001g0111 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0270 a0001c0001t0001g0294 a0001c0001t0001g0300 a0001c0001t0002g0125 a0001c0001t0002g0164 a0001c0001t0002g0176 a0001c0001t0002g0182 a0001c0001t0008g0276 a0001c0001t0010g0242 a0001c0001t0010g0279 a0001c0001t0010g0280 a0001c0001t0016g0092 a0001c0002t0001g0110 a0001c0002t0001g0243 a0001c0002t0003g0283 a0001c0002t0011g0190 a0001c0002t0011g0299	25	342	0.0731	17	c.802 others(34): Show c.802+6623_802+6639dupTTTTTTTTTTTTTTTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320285	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0066 a0001c0001t0009g0066	1	342	0.0029	17	c.-52 others(36): Show c.-52+13184_-52+13185insATATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320291	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	342	0.0029	17	c.-52 others(36): Show c.-52+13178_-52+13179insATATATATATATATTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320291	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19030.hp2 HG02976.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0014 a0001c0007t0001 a0001c0001t0014 a0001c0007t0001	a0001c0001t0014g0071 a0001c0007t0001g0239 a0001c0001t0014g0071 a0001c0007t0001g0239	2	342	0.0059	17	c.-52 others(36): Show c.-52+13178_-52+13179insATATATATATATATATT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320291	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	342	0.0029	17	c.-52 others(36): Show c.-52+13178_-52+13179insATATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	342	0.0029	17	c.-52 others(36): Show c.-52+13155_-52+13156insATATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01168.hp2 HG01433.hp1 others(1): Show HG01106.hp2 HG01168.hp2 HG01433.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0030 a0001c0001t0001 a0001c0001t0003 a0001c0001t0030	a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0003g0208 others(1): Show a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0003g0208 a0001c0001t0030g0216	4	342	0.0117	17	c.-52 others(36): Show c.-52+13155_-52+13156insAAATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02630.hp1 NA18948.hp1 others(2): Show HG01070.hp1 HG02630.hp1 NA18948.hp1 NA18972.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0259 a0001c0001t0001g0315 a0001c0001t0003g0146 others(2): Show a0001c0001t0001g0259 a0001c0001t0001g0315 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148	5	342	0.0146	17	c.-52 others(36): Show c.-52+13155_-52+13156insAAAAATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	342	0.0029	17	c.-52 others(36): Show c.-52+13155_-52+13156insAAAAAAAAATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(10): Show ATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0012 a0005c0011t0012	a0005c0011t0012g0015 a0005c0011t0012g0015	1	380	0.0026	17	c.-20 others(28): Show c.-2010_-2009insAAAAATATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 NA18954.hp1 NA19056.hp1 HG02818.hp2 NA18954.hp1 NA19056.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0011 a0001c0002 a0005c0011	a0001c0002t0002 a0001c0002t0017 a0005c0011t0012 a0001c0002t0002 a0001c0002t0017 a0005c0011t0012	a0001c0002t0002g0017 a0001c0002t0017g0250 a0005c0011t0012g0015 a0001c0002t0002g0017 a0001c0002t0017g0250 a0005c0011t0012g0015	3	380	0.0079	17	c.-20 others(28): Show c.-2010_-2009insAAAAAAATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 NA18963.hp1 NA18964.hp1 HG03942.hp1 NA18963.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0037 a0001c0002t0002g0206 a0001c0002t0002g0002 a0001c0002t0002g0037 a0001c0002t0002g0206	3	380	0.0079	17	c.-20 others(28): Show c.-2010_-2009insAAAAAAAAATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCH1_chr9_95437980_95514266	95440487	A A	AAGGAGGG others(10): Show AAGGAGGGAGAAGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02004.hp1 HG02004.hp2 HG01106.hp1 HG02004.hp1 HG02004.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0088 a0001c0002t0001g0111 a0002c0001t0001g0070 a0001c0002t0001g0088 a0001c0002t0001g0111 a0002c0001t0001g0070	3	284	0.0106	17	c.59 others(28): Show c.5905_*5906insCCCCCCTTCTCCCTCCT	PTCH1	ENSG00000185920.19	transcript	ENST00000331920.11	protein_coding		2492		chr9	TogoVar
PTCH1_chr9_95437980_95521971	95440487	A A	AAGGAGGG others(10): Show AAGGAGGGAGAAGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01123.hp1 HG02004.hp1 others(1): Show HG01106.hp1 HG01123.hp1 HG02004.hp1 HG02004.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0033 a0002c0001t0001 a0001c0002t0001 a0001c0002t0033 a0002c0001t0001	a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0033g0157 others(1): Show a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0033g0157 a0002c0001t0001g0056	4	278	0.0144	17	c.59 others(28): Show c.5905_*5906insCCCCCCTTCTCCCTCCT	PTCH1	ENSG00000185920.19	transcript	ENST00000437951.6	protein_coding		2492		chr9	TogoVar
PTCH2_chr1_44816938_44848253	44830587	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01099.hp2 HG01256.hp1 others(27): Show HG00323.hp2 HG01099.hp2 HG01256.hp1 HG01358.hp2 HG02004.hp1 HG02083.hp1 HG02970.hp1 HG03017.hp1 HG03209.hp2 HG03239.hp1 HG03654.hp1 HG03704.hp2 HG04228.hp1 NA18522.hp2 NA18947.hp1 NA18951.hp1 NA18968.hp2 NA18980.hp1 NA18981.hp1 NA18984.hp2 NA18986.hp2 NA18999.hp1 NA19009.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19076.hp1 NA19091.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0002c0006 others(1): Show a0001c0003 a0002c0004 a0002c0006 a0002c0009	a0001c0003t0001 a0002c0004t0001 a0002c0006t0001 others(1): Show a0001c0003t0001 a0002c0004t0001 a0002c0006t0001 a0002c0009t0001	a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0163 others(21): Show a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0163 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0178 a0001c0003t0001g0186 a0001c0003t0001g0191 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0203 a0001c0003t0001g0209 a0001c0003t0001g0211 a0001c0003t0001g0238 a0002c0004t0001g0008 a0002c0004t0001g0155 a0002c0004t0001g0180 a0002c0004t0001g0184 a0002c0004t0001g0187 a0002c0004t0001g0237 a0002c0006t0001g0151 a0002c0006t0001g0160 a0002c0006t0001g0172 a0002c0009t0001g0035	30	370	0.0811	17	c.813 others(32): Show c.813+244_813+260dupTTTTTTTTTTTTTTTTT	PTCH2	ENSG00000117425.14	transcript	ENST00000372192.4	protein_coding	6/21			chr1	TogoVar
PTCHD1_chrX_23329849_23409374	23334807	C C	CCGCCGCC others(10): Show CCGCCGCCGCCGCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0066 a0001c0001t0024g0066	1	297	0.0034	17	c.-69 others(24): Show c.-69_-68insCGCCGCCGCCGCCGCCG	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding		41		chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23392074	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02630.hp1 others(2): Show HG01891.hp2 HG02257.hp1 HG02630.hp1 HG03225.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0031 a0001c0001t0161 a0001c0001t0168 others(1): Show a0001c0001t0031 a0001c0001t0161 a0001c0001t0168 a0001c0002t0005	a0001c0001t0031g0254 a0001c0001t0031g0258 a0001c0001t0161g0256 others(2): Show a0001c0001t0031g0254 a0001c0001t0031g0258 a0001c0001t0161g0256 a0001c0001t0168g0124 a0001c0002t0005g0029	5	297	0.0168	17	c.101 others(34): Show c.1013-456_1013-440dupTTTTTTTTTTTTTTTTT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23394451	C C	CACACACA others(10): Show CACACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0067 a0001c0002t0067	a0001c0002t0067g0242 a0001c0002t0067g0242	1	297	0.0034	17	c.26 others(26): Show c.266_*267insACACACACACACACACA	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	3/3	267		chrX	TogoVar
PTEN_chr10_87858625_87976930	87858636	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG03579.hp1 HG01257.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0028 a0001c0001t0014 a0001c0001t0028	a0001c0001t0014g0002 a0001c0001t0028g0185 a0001c0001t0014g0002 a0001c0001t0028g0185	2	322	0.0062	17	c.-58 others(28): Show c.-5834_-5833insAAAAAAAAAAAAAAAAA	PTEN	ENSG00000171862.15	transcript	ENST00000371953.8	protein_coding		4988		chr10	TogoVar
PTEN_chr10_87858625_87976930	87876473	A A	ATTTTAAA others(10): Show ATTTTAAACTAGTTTTCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0263 a0001c0001t0018g0263	1	322	0.0031	17	c.79+ others(34): Show c.79+11927_79+11943dupTTTAAACTAGTTTTCCT	PTEN	ENSG00000171862.15	transcript	ENST00000371953.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTEN_chr10_87858625_87976930	87962501	A A	ATATACAC others(10): Show ATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0134 a0001c0001t0012g0135 a0001c0001t0012g0134 a0001c0001t0012g0135	2	322	0.0062	17	c.102 others(36): Show c.1026+1383_1026+1384insTATACACACACACACAC	PTEN	ENSG00000171862.15	transcript	ENST00000371953.8	protein_coding	8/8			chr10	TogoVar
PTER_chr10_16432010_16518745	16476901	C C	CTCTCTCT others(10): Show CTCTCTCTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01975.hp2 HG02145.hp2 others(13): Show HG01070.hp1 HG01975.hp2 HG02145.hp2 HG02615.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03209.hp2 HG03471.hp1 NA18522.hp1 NA19043.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0004c0004	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0031 a0001c0003t0002 a0001c0003t0006 a0004c0004t0002	a0001c0001t0002g0093 a0001c0001t0002g0211 a0001c0002t0001g0094 others(13): Show a0001c0001t0002g0093 a0001c0001t0002g0211 a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0309 a0001c0002t0005g0096 a0001c0002t0006g0248 a0001c0002t0031g0301 a0001c0003t0002g0078 a0001c0003t0006g0079 a0001c0003t0006g0080 a0004c0004t0002g0323	16	378	0.0423	17	c.-48 others(34): Show c.-48-7435_-48-7434insCTCTCTCTTTTTTTTTT	PTER	ENSG00000165983.15	transcript	ENST00000535784.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTF1A_chr10_23187312_23199245	23190602	C C	CACACACA others(10): Show CACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	410	0.0024	17	c.-19 others(28): Show c.-1929_-1928insACACACACACACACACA	PTF1A	ENSG00000168267.7	transcript	ENST00000376504.4	protein_coding		1709		chr10	TogoVar
PTGER3_chr1_70965782_71052816	70996639	T T	TTTTTATT others(10): Show TTTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	372	0.0027	17	c.107 others(38): Show c.1077+15665_1077+15666insTAAATAAATAAATAAAA	PTGER3	ENSG00000050628.21	transcript	ENST00000306666.10	protein_coding	2/3			chr1	TogoVar
PTGER3_chr1_70965782_71052816	71025173	C C	CTTCCTTC others(10): Show CTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	372	0.0027	17	c.898 others(36): Show c.898-12690_898-12689insAGGAAGGAAGGAAGGAA	PTGER3	ENSG00000050628.21	transcript	ENST00000306666.10	protein_coding	1/3			chr1	TogoVar
PTGES3L_chr17_42963103_42985080	42981992	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG01891.hp1 HG02559.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0040 a0003c0003t0001g0042 a0003c0003t0001g0040 a0003c0003t0001g0042	2	336	0.0060	17	c.-19 others(28): Show c.-1940_-1939insAAAAAAAAAAAAAAAAA	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding		1913		chr17	TogoVar
PTGES3_chr12_56658349_56693284	56674825	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18966.hp2 NA18984.hp1 others(1): Show HG01891.hp2 NA18966.hp2 NA18984.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0141 a0001c0001t0001g0214 a0001c0001t0001g0265 others(1): Show a0001c0001t0001g0141 a0001c0001t0001g0214 a0001c0001t0001g0265 a0001c0001t0004g0004	4	372	0.0108	17	c.3-1 others(30): Show c.3-1777_3-1761dupTTTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGES3_chr12_56658349_56693284	56683473	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	372	0.0027	17	c.2+4 others(30): Show c.2+4508_2+4524dupTTTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGIR_chr19_46615468_46630089	46616210	C C	CTCGGGTC others(10): Show CTCGGGTCCAGACCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	17	c.50 others(28): Show c.5069_*5070insCTCTGGTCTGGACCCGA	PTGIR	ENSG00000160013.9	transcript	ENST00000291294.7	protein_coding		4257		chr19	TogoVar
PTGR2_chr14_73846831_73890726	73882800	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0206 a0001c0002t0005g0206	1	420	0.0024	17	c.979 others(32): Show c.979+384_979+400dupTTTTTTTTTTTTTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTH2R_chr2_208401792_208499506	208408765	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0152 a0001c0003t0003g0152	1	294	0.0034	17	c.75+ others(32): Show c.75+1647_75+1648insGAGAGAGAGAGAGAGAG	PTH2R	ENSG00000144407.10	transcript	ENST00000272847.7	protein_coding	1/12			chr2	TogoVar
PTK2B_chr8_27320552_27464386	27320980	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0262 a0002c0003t0002g0262	1	328	0.0031	17	c.-47 others(28): Show c.-4739_-4738insTTTTTTTTTTTTTTTTT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding		4571		chr8	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	328	0.0031	17	c.-38 others(36): Show c.-38+25310_-38+25311insATATATATATATATATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27383852	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(16): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00621.hp2 HG00673.hp2 HG01516.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02074.hp2 HG03669.hp1 NA18961.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA19009.hp2 NA19043.hp1 NA19091.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0009 a0001c0012 a0002c0003 others(3): Show a0001c0009 a0001c0012 a0002c0003 a0002c0004 a0002c0018 a0005c0016	a0001c0009t0002 a0001c0012t0004 a0002c0003t0002 others(3): Show a0001c0009t0002 a0001c0012t0004 a0002c0003t0002 a0002c0004t0002 a0002c0018t0002 a0005c0016t0002	a0001c0009t0002g0106 a0001c0009t0002g0310 a0001c0012t0004g0053 others(16): Show a0001c0009t0002g0106 a0001c0009t0002g0310 a0001c0012t0004g0053 a0002c0003t0002g0069 a0002c0003t0002g0217 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0222 a0002c0003t0002g0223 a0002c0003t0002g0239 a0002c0003t0002g0254 a0002c0003t0002g0260 a0002c0003t0002g0283 a0002c0003t0002g0308 a0002c0004t0002g0100 a0002c0004t0002g0225 a0002c0004t0002g0242 a0002c0018t0002g0089 a0005c0016t0002g0105	19	328	0.0579	17	c.-37 others(36): Show c.-37-13683_-37-13682insTTTTTTTTTTTTTTTTT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2_chr8_140652900_141006282	140676765	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG03225.hp2 others(2): Show HG02055.hp2 HG02486.hp1 HG03225.hp2 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0219 others(2): Show a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0243	5	290	0.0172	17	c.268 others(36): Show c.2686-1283_2686-1267dupTTTTTTTTTTTTTTTTT	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	30/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	140679003	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0203 a0002c0002t0015g0203	1	290	0.0035	17	c.268 others(36): Show c.2686-3521_2686-3505dupAAAAAAAAAAAAAAAAA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	30/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	140715155	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0203 a0002c0002t0015g0203	1	290	0.0035	17	c.226 others(36): Show c.2265+2426_2265+2442dupAAAAAAAAAAAAAAAAA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	26/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	140902924	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0225 a0001c0003t0001g0225	1	290	0.0035	17	c.-32 others(36): Show c.-32-12172_-32-12156dupAAAAAAAAAAAAAAAAA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	2/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	140927975	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18979.hp2 NA19010.hp1 others(1): Show HG00597.hp1 NA18979.hp2 NA19010.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0277 a0002c0002t0002g0154 a0002c0002t0002g0190 others(1): Show a0002c0002t0001g0277 a0002c0002t0002g0154 a0002c0002t0002g0190 a0002c0002t0002g0193	4	290	0.0138	17	c.-12 others(36): Show c.-121-2227_-121-2226insATATATATATATATATA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK7_chr6_43071314_43166715	43121572	T T	TCTGCAGC others(10): Show TCTGCAGCTCACTGGGTC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0219 a0003c0003t0002g0219	1	272	0.0037	17	c.80- others(32): Show c.80-7404_80-7388dupCTGCAGCTCACTGGGTC	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	272	0.0037	17	c.272 others(36): Show c.2722-1452_2722-1451insATATATATATATTTTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)