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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	326	0.0031	25	c.366 others(42): Show c.366-1551_366-1550insATATATATATATATATATTTTTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02165.hp1 HG02922.hp2 others(1): Show HG02071.hp2 HG02165.hp1 HG02922.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0001 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0048 a0001c0001t0001g0077 a0001c0001t0004g0078 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0077 a0001c0001t0004g0078 a0001c0001t0011g0076	4	326	0.0123	25	c.366 others(42): Show c.366-1551_366-1550insATATATATATATATATTTTTTTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0086 a0001c0001t0019g0086	1	326	0.0031	25	c.366 others(42): Show c.366-1551_366-1550insATATATATATATATTTTTTTTTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133570	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	326	0.0031	25	c.366 others(42): Show c.366-1551_366-1550insATATATATATATATATATATATATA	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6			chr20	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	412	0.0024	25	c.174 others(42): Show c.174+1096_174+1097insATATATATATATATATATATATTTT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSMG4_chr6_3253947_3273049	3260292	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	412	0.0024	25	c.174 others(42): Show c.174+1096_174+1097insATATATATATATATATATATATATA	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2			chr6	TogoVar
PSTK_chr10_122975401_122995390	122980723	C C	CGCGGGGC others(18): Show CGCGGGGCGGGGCGGGGCGGGGCGGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02273.hp1 HG02647.hp2 others(10): Show HG01081.hp2 HG02273.hp1 HG02647.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 NA18969.hp2 NA18972.hp2 NA18978.hp2 NA18979.hp2 NA19056.hp1 NA19066.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0003c0003t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0002c0002t0001g0134 others(4): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0002c0002t0001g0134 a0002c0005t0001g0139 a0003c0003t0001g0010 a0003c0003t0001g0135 a0003c0003t0001g0136	13	416	0.0313	25	c.216 others(38): Show c.216+40_216+64dupCGGGGCGGGGCGGGGCGGGGCGGGG	PSTK	ENSG00000179988.15	transcript	ENST00000406217.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02922.hp2 HG01517.hp1 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0299 a0001c0002t0001g0305 a0001c0002t0001g0299 a0001c0002t0001g0305	2	364	0.0055	25	c.905 others(42): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112244289	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp1 HG01934.hp1 others(11): Show HG00738.hp1 HG01261.hp1 HG01934.hp1 HG04115.hp2 HG04199.hp1 NA18942.hp2 NA18944.hp2 NA18949.hp2 NA18950.hp2 NA18957.hp1 NA18968.hp2 NA19000.hp2 NA19064.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0019 a0002c0003t0002 a0001c0001t0002 a0001c0001t0019 a0002c0003t0002	a0001c0001t0002g0105 a0001c0001t0002g0126 a0001c0001t0002g0132 others(11): Show a0001c0001t0002g0105 a0001c0001t0002g0126 a0001c0001t0002g0132 a0001c0001t0002g0137 a0001c0001t0002g0162 a0001c0001t0002g0195 a0001c0001t0002g0221 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0285 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0019g0136 a0002c0003t0002g0106	14	342	0.0409	25	c.802 others(42): Show c.802+6639_802+6640insTTTTTTTTTTTTTTTTTTTTTTTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112302582	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0336 a0001c0001t0012g0336	1	342	0.0029	25	c.-51 others(42): Show c.-51-4667_-51-4666insAAAAAAAAAAAAAAAAAAAAAAAAA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18956.hp1 NA19011.hp2 HG03239.hp2 NA18956.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0016g0092 a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0016g0092	3	342	0.0088	25	c.-52 others(44): Show c.-52+13155_-52+13156insAAAAATATATATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0008 a0004c0007t0008	a0004c0007t0008g0241 a0004c0007t0008g0241	1	380	0.0026	25	c.-20 others(36): Show c.-2010_-2009insATATATATATATATATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0015 a0015	a0015c0026 a0015c0026	a0015c0026t0005 a0015c0026t0005	a0015c0026t0005g0056 a0015c0026t0005g0056	1	380	0.0026	25	c.-20 others(36): Show c.-2010_-2009insAAAAATATATATATATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	380	0.0026	25	c.-20 others(36): Show c.-2010_-2009insAAAAAAAAAAAAAAATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCH2_chr1_44816938_44848253	44830587	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp2 HG02895.hp2 others(8): Show HG01884.hp1 HG02630.hp2 HG02895.hp2 HG02896.hp2 HG03491.hp2 HG03492.hp1 NA18612.hp1 NA18974.hp2 NA19057.hp1 NA19064.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0016 a0001c0002 a0001c0005 a0001c0016	a0001c0002t0001 a0001c0005t0001 a0001c0016t0001 a0001c0002t0001 a0001c0005t0001 a0001c0016t0001	a0001c0002t0001g0029 a0001c0002t0001g0095 a0001c0002t0001g0126 others(5): Show a0001c0002t0001g0029 a0001c0002t0001g0095 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0216 a0001c0005t0001g0011 a0001c0005t0001g0142 a0001c0016t0001g0100	11	370	0.0297	25	c.813 others(40): Show c.813+260_813+261insTTTTTTTTTTTTTTTTTTTTTTTTT	PTCH2	ENSG00000117425.14	transcript	ENST00000372192.4	protein_coding	6/21			chr1	TogoVar
PTDSS2_chr11_445279_496399	494148	C C	CGCTGGGC others(18): Show CGCTGGGCTGGGCTGGGCTGGGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0306 a0001c0001t0004g0306	1	346	0.0029	25	c.35 others(36): Show c.3566_*3567insGCTGGGCTGGGCTGGGCTGGGCTGG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding		2750		chr11	TogoVar
PTGER1_chr19_14467466_14480354	14471838	A A	AAGGCCTT others(18): Show AAGGCCTTTGGGATTTGCCGGATCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0007 a0003c0009t0007	a0003c0009t0007g0027 a0003c0009t0007g0027	1	408	0.0025	25	c.69 others(34): Show c.697_*721dupAGGATCCGGCAAATCCCAAAGGCCT	PTGER1	ENSG00000160951.4	transcript	ENST00000292513.4	protein_coding		627		chr19	TogoVar
PTGES3_chr12_56658349_56693284	56674825	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp1 HG02129.hp2 others(2): Show HG01261.hp1 HG01496.hp1 HG02129.hp2 HG03471.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0125 a0001c0001t0001g0144 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0125 a0001c0001t0001g0144 a0001c0001t0001g0162 a0001c0001t0001g0216	5	372	0.0134	25	c.3-1 others(38): Show c.3-1785_3-1761dupTTTTTTTTTTTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	328	0.0031	25	c.-38 others(44): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAAAAAATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	328	0.0031	25	c.-38 others(44): Show c.-38+25310_-38+25311insATATATATATATATATATATATATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK6_chr20_63523001_63542376	63535834	G G	GCCCCCCT others(18): Show GCCCCCCTCCTCACCTGGCCTCCCGC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	344	0.0029	25	c.231 others(40): Show c.231-776_231-775insGCGGGAGGCCAGGTGAGGAGGGGGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTK6_chr20_63523001_63542376	63536042	G G	GCCCCCCT others(18): Show GCCCCCCTCCTCTCCTGGCCTCCCGC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	344	0.0029	25	c.231 others(40): Show c.231-984_231-983insGCGGGAGGCCAGGAGAGGAGGGGGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0130 a0004c0007t0001g0130	1	272	0.0037	25	c.272 others(44): Show c.2722-1452_2722-1451insATATATATATATATATATATTTTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43163591	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	272	0.0037	25	c.27 others(36): Show c.2710_*2711insAAAAAAAAAAAAAAAAAAAAAAAAA	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding		1877		chr6	TogoVar
PTMA_chr2_231703525_231718551	231705109	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	392	0.0026	25	c.-35 others(36): Show c.-3598_-3597insAAAAAAAAAAAAAAAAAAAAAAAAA	PTMA	ENSG00000187514.17	transcript	ENST00000409115.8	protein_coding		3415		chr2	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	296	0.0034	25	c.-2+ others(42): Show c.-2+19005_-2+19006insATATATATTTTTTTTTTTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0095 a0001c0001t0002g0096	2	296	0.0068	25	c.-2+ others(42): Show c.-2+19005_-2+19006insATATATATATATATATATTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTP4A2_chr1_31901421_31943368	31926149	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0155 a0001c0001t0155	a0001c0001t0155g0018 a0001c0001t0155g0018	1	354	0.0028	25	c.-59 others(44): Show c.-593-6492_-593-6491insATATATATATATTTTTTTTTTTTTT	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	1/5			chr1	TogoVar
PTPN11_chr12_112413947_112514918	112442859	T T	TATATATA others(18): Show TATATATATAAATTATATATACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	300	0.0033	25	c.15- others(40): Show c.15-3408_15-3407insAATTATATATACACACATATATATA	PTPN11	ENSG00000179295.19	transcript	ENST00000351677.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPN12_chr7_77532295_77645069	77534474	C C	CTCTCTCG others(18): Show CTCTCTCGGCACTTTGGGAGGCCAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	310	0.0032	25	c.-30 others(36): Show c.-3073_-3072insTCTCTCGGCACTTTGGGAGGCCAAG	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		2820		chr7	TogoVar
PTPN12_chr7_77532295_77645069	77644869	A A	AAAATTCA others(18): Show AAAATTCAGGTTCCAAGATCGTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0215 a0003c0003t0001g0215	1	310	0.0032	25	c.55 others(36): Show c.5589_*5590insAAATTCAGGTTCCAAGATCGTTCTT	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		4801		chr7	TogoVar
PTPN13_chr4_86589315_86820161	86705333	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0004 a0019c0024t0004	a0019c0024t0004g0008 a0019c0024t0004g0008	1	198	0.0051	25	c.119 others(44): Show c.1195+3547_1195+3548insAAAAAAAAAAAAAAAAAAAAAAAAA	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN14_chr1_214343700_214556602	214402437	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0061 a0001c0001t0032g0061	1	272	0.0037	25	c.581 others(40): Show c.581+445_581+446insTTTTTTTTTTTTTTTTTTTTTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214490852	A A	AGGGAGGG others(18): Show AGGGAGGGGAGGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp1 NA18969.hp1 HG01884.hp1 HG02809.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0021 a0001c0010t0018 a0001c0001t0021 a0001c0010t0018	a0001c0001t0021g0018 a0001c0001t0021g0019 a0001c0010t0018g0108 a0001c0001t0021g0018 a0001c0001t0021g0019 a0001c0010t0018g0108	3	272	0.0110	25	c.-15 others(46): Show c.-154-25896_-154-25895insCTCCCCTCCCCTCCCCTCCCCTCC C	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214490883	G G	GGGAGGGA others(18): Show GGGAGGGAAGGGGAGGGGAGGGGAGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0181 a0001c0001t0181	a0001c0001t0181g0267 a0001c0001t0181g0267	1	272	0.0037	25	c.-15 others(46): Show c.-154-25927_-154-25926insACTCCCCTCCCCTCCCCTTCCCTC C	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN1_chr20_50505383_50590241	50524569	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02622.hp1 HG02572.hp2 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0280 a0001c0002t0001g0206 a0001c0002t0001g0280	2	336	0.0060	25	c.63+ others(42): Show c.63+13980_63+14004dupTTTTTTTTTTTTTTTTTTTTTTTTT	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN1_chr20_50505383_50590241	50554380	A A	ATTCTCTC others(18): Show ATTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG03225.hp2 others(1): Show HG00323.hp2 HG00423.hp1 HG03225.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0133 a0001c0001t0001g0168 a0001c0001t0001g0182 others(1): Show a0001c0001t0001g0133 a0001c0001t0001g0168 a0001c0001t0001g0182 a0001c0003t0001g0181	4	336	0.0119	25	c.64- others(40): Show c.64-6982_64-6981insTCTCTCTCTCTCTCTCTCTCTCTCT	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN22_chr1_113808811_113876712	113826397	G G	GGGGAAGG others(18): Show GGGGAAGGGAAGGGAAGGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02015.hp2 HG03017.hp2 others(4): Show HG01891.hp2 HG02015.hp2 HG03017.hp2 HG06807.hp2 NA18943.hp1 NA19003.hp2 NA19083.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0207 a0001c0001t0001g0249 a0001c0001t0001g0251 others(4): Show a0001c0001t0001g0207 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0259 a0004c0004t0001g0175	7	358	0.0196	25	c.225 others(44): Show c.2251-1250_2251-1226dupTTCCCTTCCCTTCCCTTCCCTTCCC	PTPN22	ENSG00000134242.16	transcript	ENST00000359785.10	protein_coding	18/20			chr1	TogoVar
PTPN23_chr3_47376021_47418435	47418004	T T	TCGGGGGG others(18): Show TCGGGGGGAGGAGAGAGGGGCGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0001 a0002c0032t0001	a0002c0032t0001g0004 a0002c0032t0001g0004	1	332	0.0030	25	c.48 others(36): Show c.4819_*4820insCGGGGGGAGGAGAGAGGGGCGGGTG	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding		4570		chr3	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	370	0.0027	25	c.859 others(42): Show c.859-5436_859-5435insATATATATATATATATTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12835382	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02622.hp1 HG02129.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0234 a0001c0001t0012g0002 a0001c0001t0001g0234 a0001c0001t0012g0002	2	370	0.0054	25	c.261 others(42): Show c.261+1408_261+1409insAAAAAAAAAAAAAAAAAAAAAAAAA	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	3/8			chr18	TogoVar
PTPN3_chr9_109370700_109503307	109408796	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0232 a0001c0001t0028g0232	1	290	0.0035	25	c.157 others(42): Show c.1579-420_1579-419insATATATATATATATATATATATATA	PTPN3	ENSG00000070159.14	transcript	ENST00000374541.4	protein_coding	16/25			chr9	TogoVar
PTPN4_chr2_119754922_119989899	119845253	G G	GGGAGGGA others(18): Show GGGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	252	0.0040	25	c.139 others(44): Show c.139-17282_139-17281insGAGGGAGAGGGAGAGGGAGAGGGAG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119923645	T T	TTAAAAAA others(18): Show TTAAAAAAATAACTTTTTATCAGGTA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0013	1	252	0.0040	25	c.100 others(44): Show c.1002-2921_1002-2897dupAATAACTTTTTATCAGGTATAAAAA	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	12/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119973655	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0005 a0005c0008t0005	a0005c0008t0005g0035 a0005c0008t0005g0035	1	252	0.0040	25	c.269 others(44): Show c.2695-3326_2695-3302dupTTTTTTTTTTTTTTTTTTTTTTTTT	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN5_chr11_18722928_18796798	18773128	G G	GTGTGGTG others(18): Show GTGTGGTGTGGGATGGGACAATCCAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02109.hp1 HG02615.hp2 others(6): Show HG01496.hp2 HG02109.hp1 HG02615.hp2 HG03041.hp1 HG03130.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0023 a0001c0001t0001g0118 a0001c0001t0001g0119 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0312 a0001c0001t0001g0357 a0001c0001t0002g0219 a0001c0001t0002g0339 a0001c0001t0002g0361 a0001c0003t0001g0313	9	388	0.0232	25	c.-11 others(44): Show c.-113-1058_-113-1057insGTGGATTGTCCCATCCCACACCACA	PTPN5	ENSG00000110786.18	transcript	ENST00000358540.7	protein_coding	1/14			chr11	TogoVar
PTPN9_chr15_75458251_75584315	75504429	G G	GGGCGCCT others(18): Show GGGCGCCTCTGCCCAGCCGCCCCTAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0304 a0001c0001t0035g0304	1	326	0.0031	25	c.968 others(42): Show c.968+1245_968+1246insGTAGGGGCGGCTGGGCAGAGGCGCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75537753	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG04115.hp2 HG03831.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0043 a0001c0001t0027g0094 a0001c0001t0001g0043 a0001c0001t0027g0094	2	326	0.0061	25	c.64- others(42): Show c.64-10493_64-10492insTTTTTTTTTTTTTTTTTTTTTTTTT	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRD_chr9_8309246_10618002	8331574	A A	AAACTTAC others(18): Show AAACTTACCATTCTTGAACTGTAACT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp2 HG03579.hp2 HG01099.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0013 a0001c0001t0014g0008 a0001c0001t0002g0013 a0001c0001t0014g0008	2	34	0.0588	25	c.553 others(38): Show c.5534+7_5534+8insAGTTACAGTTCAAGAATGGTAAGTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	44/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	8331574	A A	AAACTTAC others(18): Show AAACTTACTTACCATTCTTGAACTGT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0021 a0001c0007t0021	a0001c0007t0021g0002 a0001c0007t0021g0002	1	34	0.0294	25	c.553 others(38): Show c.5534+7_5534+8insACAGTTCAAGAATGGTAAGTAAGTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	44/45			chr9	TogoVar

Search by Variant

Search

Search Results (Total: 8644 hits)