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
PRR5L_chr11_36291288_36470204	36351047	T T	TTTATATG others(29): Show TTTATATGTATTTTATATATAAATATATATTTATAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	272	0.0037	36	c.-12 others(57): Show c.-125-49949_-125-49948insTATATGTATTTTATATATAAATAT ATATTTATAAAT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0168 a0002c0006t0004g0168	1	216	0.0046	36	c.-51 others(53): Show c.-51-9598_-51-9597insCTTTCTTTCTTTTCTTTCTTTCTTTTCT TTCTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131430495	A A	ATATCTAT others(29): Show ATATCTATAGATATCTATAGATAGATAGATAGATATC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02145.hp1 HG02451.hp1 others(6): Show HG01167.hp1 HG02145.hp1 HG02451.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1	a0002 a0015 a0002 a0015	a0002c0006 a0002c0012 a0015c0021 a0002c0006 a0002c0012 a0015c0021	a0002c0006t0004 a0002c0006t0018 a0002c0012t0004 others(1): Show a0002c0006t0004 a0002c0006t0018 a0002c0012t0004 a0015c0021t0004	a0002c0006t0004g0160 a0002c0006t0004g0165 a0002c0006t0004g0167 others(6): Show a0002c0006t0004g0160 a0002c0006t0004g0165 a0002c0006t0004g0167 a0002c0006t0004g0168 a0002c0006t0018g0164 a0002c0006t0018g0166 a0002c0012t0004g0161 a0002c0012t0004g0162 a0015c0021t0004g0005	9	216	0.0417	36	c.115 others(51): Show c.115+256_115+291dupATAGATAGATAGATATCTATCTATAGATAT CTATAG	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131448543	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0079 a0001c0001t0016g0079	1	216	0.0046	36	c.112 others(53): Show c.1120+766_1120+767insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171569575	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02698.hp1 others(5): Show HG02559.hp2 HG02615.hp2 HG02698.hp1 HG03490.hp2 HG06807.hp1 NA18522.hp2 NA18960.hp1 NA18995.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0003 a0001c0001t0001 a0003c0002t0003	a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0085 others(5): Show a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0085 a0001c0001t0001g0144 a0001c0001t0001g0324 a0001c0001t0001g0325 a0003c0002t0003g0232 a0003c0002t0003g0233	8	336	0.0238	36	c.665 others(55): Show c.6651+1254_6651+1255insATATATATATATATATATATATATAT ATATATATAT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRG1_chrX_37344364_37462291	37376551	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02027.hp1 NA18747.hp1 others(1): Show HG01934.hp1 HG02027.hp1 NA18747.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(1): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0010g0197	4	216	0.0185	36	c.-42 others(55): Show c.-42+27177_-42+27178insATATATATATATATATATATATATAT ATATATATAT	PRRG1	ENSG00000130962.18	transcript	ENST00000378628.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRG3_chrX_151690458_151710924	151697094	T T	TCCTTCCT others(29): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02056.hp1 HG02615.hp1 others(2): Show HG00597.hp2 HG02056.hp1 HG02615.hp1 HG02976.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0047 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0047 a0001c0001t0063 a0001c0001t0158	a0001c0001t0001g0025 a0001c0001t0002g0026 a0001c0001t0047g0025 others(2): Show a0001c0001t0001g0025 a0001c0001t0002g0026 a0001c0001t0047g0025 a0001c0001t0063g0026 a0001c0001t0158g0054	5	336	0.0149	36	c.-32 others(53): Show c.-32+1553_-32+1554insTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTCCCT	PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRSS41_chr16_2793470_2810304	2795137	T T	TATACATA others(29): Show TATACATATATACATATATACATATATACATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0060 a0009c0012t0001g0060	1	426	0.0024	36	c.-33 others(47): Show c.-3348_-3347insATACATATATACATATATACATATATACATATAT AC	PRSS41	ENSG00000215148.11	transcript	ENST00000399677.5	protein_coding		3332		chr16	TogoVar
PRSS55_chr8_10520532_10543819	10543463	C C	CCTTCCTT others(29): Show CCTTCCTTCCATCCTTCCTTCCTTCCTTCCTTCCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 NA18944.hp1 NA19088.hp1 HG02135.hp1 NA18944.hp1 NA19088.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0089 a0003c0003t0001g0002 a0003c0003t0001g0089	3	480	0.0063	36	c.46 others(47): Show c.4670_*4671insCTTCCTTCCATCCTTCCTTCCTTCCTTCCTTCCT TT	PRSS55	ENSG00000184647.11	transcript	ENST00000328655.8	protein_coding		4645		chr8	TogoVar
PRSS57_chr19_680546_700452	694275	G G	GACAGATG others(29): Show GACAGATGTTGGCAAGGATGTGGAGAAAAGGGAACAC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	442	0.0023	36	c.233 others(51): Show c.233+538_233+539insGTGTTCCCTTTTCTCCACATCCTTGCCAAC ATCTGT	PRSS57	ENSG00000185198.12	transcript	ENST00000329267.9	protein_coding	2/4			chr19	TogoVar
PRTG_chr15_55606544_55748152	55709349	T T	TATATATA others(29): Show TATATATAAAATATATATAAAATATACAATATATATA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	284	0.0035	36	c.398 others(55): Show c.398-25454_398-25419dupTATATATATTGTATATTTTATATATA TTTTATATAT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	2/19			chr15	TogoVar
PRUNE2_chr9_76606376_76911114	76774450	C C	CTTTATTT others(29): Show CTTTATTTATTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0008 a0007c0006t0008	a0007c0006t0008g0006 a0007c0006t0008g0007 a0007c0006t0008g0006 a0007c0006t0008g0007	2	240	0.0083	36	c.756 others(55): Show c.756+49181_756+49182insTAAATAAATAAATAAATAAATAAATA AATAAATAAA	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PRXL2A_chr10_80403551_80442115	80429562	T T	TCCTGCCC others(29): Show TCCTGCCCTGCCCTGCCCCTAGCCTCTCCTGCCCTGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG02280.hp2 others(3): Show HG00639.hp1 HG01074.hp1 HG02280.hp2 HG02965.hp1 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0045 a0001c0001t0046 a0001c0001t0014 a0001c0001t0045 a0001c0001t0046	a0001c0001t0014g0055 a0001c0001t0014g0058 a0001c0001t0014g0059 others(3): Show a0001c0001t0014g0055 a0001c0001t0014g0058 a0001c0001t0014g0059 a0001c0001t0014g0062 a0001c0001t0045g0026 a0001c0001t0046g0026	6	300	0.0200	36	c.576 others(53): Show c.576+2110_576+2145dupTGCCCTGCCCCTAGCCTCTCCTGCCCTG CCCTGCCC	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
PSD2_chr5_139790808_139849466	139830565	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03041.hp1 HG03098.hp2 HG02647.hp2 HG03041.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0046 a0001c0001t0003g0227 a0001c0001t0003g0232 a0001c0001t0002g0046 a0001c0001t0003g0227 a0001c0001t0003g0232	3	276	0.0109	36	c.127 others(55): Show c.1270-3134_1270-3133insCCTTCCTTCCTTCCTTCCTTCCTTTC TTTCTTTCTT	PSD2	ENSG00000146005.4	transcript	ENST00000274710.4	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PSD2_chr5_139790808_139849466	139830565	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02258.hp2 HG02735.hp2 others(4): Show HG02129.hp1 HG02258.hp2 HG02735.hp2 HG03490.hp1 HG04115.hp2 HG04184.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0021	a0001c0001t0002g0071 a0001c0001t0002g0076 a0001c0001t0002g0078 others(4): Show a0001c0001t0002g0071 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0244 a0001c0001t0004g0239 a0001c0001t0010g0065 a0001c0001t0021g0115	7	276	0.0254	36	c.127 others(55): Show c.1270-3134_1270-3133insCCTTCCTTCCTTCCTTCCTTTCTTTC TTTCTTTCTT	PSD2	ENSG00000146005.4	transcript	ENST00000274710.4	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PSD2_chr5_139790808_139849466	139830565	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0019 a0001c0002t0015g0019	1	276	0.0036	36	c.127 others(55): Show c.1270-3134_1270-3133insCCTTCCTTCCTTTCTTTCTTTCTTTC TTTCTTTCTT	PSD2	ENSG00000146005.4	transcript	ENST00000274710.4	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PSD2_chr5_139790808_139849466	139830626	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	276	0.0036	36	c.127 others(55): Show c.1270-3045_1270-3044insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	PSD2	ENSG00000146005.4	transcript	ENST00000274710.4	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PSD2_chr5_139790808_139849466	139830626	C C	CTTTCTCT others(29): Show CTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	276	0.0036	36	c.127 others(55): Show c.1270-3075_1270-3074insTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	PSD2	ENSG00000146005.4	transcript	ENST00000274710.4	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PSD3_chr8_18522303_19018703	18759078	T T	TCACACAC others(29): Show TCACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0104 a0002c0003t0001g0104	1	228	0.0044	36	c.217 others(55): Show c.2172+6370_2172+6371insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTG	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSMA3_chr14_58239843_58277004	58254333	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG01069.hp1 others(15): Show HG00544.hp1 HG00597.hp2 HG01069.hp1 HG01106.hp2 HG01358.hp1 HG01975.hp1 HG02132.hp2 HG02630.hp2 HG02735.hp1 HG03239.hp2 HG03669.hp1 NA18941.hp1 NA18953.hp2 NA18961.hp2 NA18967.hp2 NA18971.hp2 NA18982.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0041 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0041 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0147	18	332	0.0542	36	c.228 others(53): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT ATATATAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58254340	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01255.hp1 HG02698.hp1 others(3): Show HG00140.hp2 HG01255.hp1 HG02698.hp1 HG03654.hp2 HG03942.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 others(3): Show a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122	6	332	0.0181	36	c.228 others(53): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT GTATGTAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMD11_chr17_32439510_32488319	32459115	C C	CATATATA others(29): Show CATATATATATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02451.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0050 a0001c0001t0006g0051 a0001c0001t0006g0050 a0001c0001t0006g0051	2	290	0.0069	36	c.318 others(53): Show c.318+4507_318+4508insCATATATATATATATATATATATATATA TATATATA	PSMD11	ENSG00000108671.11	transcript	ENST00000261712.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(29): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	268	0.0037	36	c.571 others(53): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0060 a0004c0005t0060	a0004c0005t0060g0190 a0004c0005t0060g0190	1	326	0.0031	36	c.366 others(53): Show c.366-1551_366-1550insATATATATATATATATATATATATATAT ATTTTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSRC1_chr1_109274556_109288145	109287220	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATTAAAGTGATTTTAGCATCAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	36	c.-41 others(47): Show c.-4197_-4196insCTCTGATGCTAAAATCACTTTAATTTTTTTTTTT TT	PSRC1	ENSG00000134222.16	transcript	ENST00000369909.7	protein_coding		4076		chr1	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03942.hp1 NA18940.hp1 others(1): Show HG02257.hp2 HG03942.hp1 NA18940.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0331 a0001c0002t0001g0336 a0001c0002t0001g0349 others(1): Show a0001c0002t0001g0331 a0001c0002t0001g0336 a0001c0002t0001g0349 a0001c0002t0008g0286	4	364	0.0110	36	c.905 others(53): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	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(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	342	0.0029	36	c.802 others(53): Show c.802+6639_802+6640insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATGTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02280.hp1 others(2): Show HG02109.hp1 HG02257.hp2 HG02280.hp1 HG02622.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 a0001c0001t0002 a0001c0001t0003 a0001c0003t0003	a0001c0001t0002g0235 a0001c0001t0003g0043 a0001c0001t0003g0236 others(2): Show a0001c0001t0002g0235 a0001c0001t0003g0043 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0003t0003g0008	5	380	0.0132	36	c.-20 others(47): Show c.-2010_-2009insAAAAAAAAAACATATATATATATATATATATATA TA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCHD4_chr6_47851673_48116197	48098318	T T	TTTCTTCT others(29): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02717.hp1 HG02738.hp2 others(1): Show HG00597.hp2 HG02717.hp1 HG02738.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0057 a0001c0002t0065 a0001c0002t0070 others(1): Show a0001c0001t0057 a0001c0002t0065 a0001c0002t0070 a0001c0003t0049	a0001c0001t0057g0111 a0001c0002t0065g0012 a0001c0002t0070g0092 others(1): Show a0001c0001t0057g0111 a0001c0002t0065g0012 a0001c0002t0070g0092 a0001c0003t0049g0110	4	182	0.0220	36	c.-97 others(57): Show c.-970+12730_-970+12731insGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAA	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	1/4			chr6	TogoVar
PTGIS_chr20_49498874_49573137	49568117	C C	CGCGGGGC others(29): Show CGCGGGGCTGGCGGGGCTGGCGGGGCTGGCGGGGCTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01106.hp1 HG03139.hp2 NA20129.hp1 HG01106.hp1 HG03139.hp2 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0003 a0006c0026 a0001c0003 a0006c0026	a0001c0003t0033 a0001c0003t0034 a0006c0026t0035 a0001c0003t0033 a0001c0003t0034 a0006c0026t0035	a0001c0003t0033g0009 a0001c0003t0034g0008 a0006c0026t0035g0007 a0001c0003t0033g0009 a0001c0003t0034g0008 a0006c0026t0035g0007	3	316	0.0095	36	c.-2_ others(41): Show c.-2_-1insCAGCCCCGCCAGCCCCGCCAGCCCCGCCAGCCCCGC	PTGIS	ENSG00000124212.6	transcript	ENST00000244043.5	protein_coding	1/10	2		chr20	TogoVar
PTGR2_chr14_73846831_73890726	73876483	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19077.hp1 NA19063.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0068 a0001c0001t0004g0052 a0001c0001t0004g0068	2	420	0.0048	36	c.349 others(51): Show c.349-499_349-498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTH2R_chr2_208401792_208499506	208408722	A A	AAGAGAGA others(29): Show AAGAGAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03098.hp1 HG02080.hp2 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0002c0004t0004 a0001c0001t0003 a0002c0004t0004	a0001c0001t0003g0177 a0002c0004t0004g0274 a0001c0001t0003g0177 a0002c0004t0004g0274	2	294	0.0068	36	c.75+ others(51): Show c.75+1621_75+1622insGAGAAAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	PTH2R	ENSG00000144407.10	transcript	ENST00000272847.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTK2_chr8_140652900_141006282	141000087	T T	TCACACAC others(29): Show TCACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	290	0.0035	36	c.-12 others(55): Show c.-122+1002_-122+1037dupTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTG	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTN_chr7_137222341_137348733	137280699	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	296	0.0034	36	c.-1- others(53): Show c.-1-25726_-1-25725insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02976.hp1 HG02818.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0135 a0001c0001t0001g0061 a0001c0001t0001g0135	2	296	0.0068	36	c.-2+ others(53): Show c.-2+19005_-2+19006insATATATATATATATATATATATATTTTT TTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(29): Show AAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	296	0.0034	36	c.-2+ others(53): Show c.-2+19005_-2+19006insATATATATATATATATATATATATATAT ATTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTPN12_chr7_77532295_77645069	77537203	A A	AGGCGGCG others(29): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0025	1	310	0.0032	36	c.-34 others(45): Show c.-344_-343insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		91		chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCTCTC others(29): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG03654.hp1 HG01169.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0144 a0001c0001t0001g0147	2	310	0.0065	36	c.102 others(55): Show c.1026-1217_1026-1182dupTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN14_chr1_214343700_214556602	214378785	G G	GGGCCCAC others(29): Show GGGCCCACAGTAACAGAGACGGTGCCTCCCAACACAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 NA19240.hp1 HG02486.hp1 HG02559.hp1 NA19240.hp1	a0001 a0011 a0001 a0011	a0001c0014 a0001c0024 a0011c0020 a0001c0014 a0001c0024 a0011c0020	a0001c0014t0154 a0001c0024t0102 a0011c0020t0055 a0001c0014t0154 a0001c0024t0102 a0011c0020t0055	a0001c0014t0154g0198 a0001c0024t0102g0078 a0011c0020t0055g0185 a0001c0014t0154g0198 a0001c0024t0102g0078 a0011c0020t0055g0185	3	272	0.0110	36	c.254 others(53): Show c.2545-719_2545-684dupTTGTGTTGGGAGGCACCGTCTCTGTTAC TGTGGGCC	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	13/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402663	A A	AAGGGAGG others(29): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0089 a0002c0003t0089	a0002c0003t0089g0010 a0002c0003t0089g0010	1	272	0.0037	36	c.581 others(51): Show c.581+219_581+220insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402667	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp2 HG02109.hp2 others(5): Show HG01106.hp2 HG01891.hp2 HG02109.hp2 HG02258.hp1 HG03225.hp1 HG03579.hp2 HG06807.hp2 NA18972.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0005 a0001c0001 a0002c0003 a0003c0005	a0001c0001t0002 a0001c0001t0028 a0002c0003t0023 others(3): Show a0001c0001t0002 a0001c0001t0028 a0002c0003t0023 a0002c0003t0172 a0002c0003t0184 a0003c0005t0063	a0001c0001t0002g0020 a0001c0001t0002g0105 a0001c0001t0028g0243 others(5): Show a0001c0001t0002g0020 a0001c0001t0002g0105 a0001c0001t0028g0243 a0002c0003t0023g0011 a0002c0003t0023g0169 a0002c0003t0172g0254 a0002c0003t0184g0262 a0003c0005t0063g0122	8	272	0.0294	36	c.581 others(51): Show c.581+215_581+216insCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402667	A A	AAGGAAGG others(29): Show AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0076 a0001c0008t0010g0076	1	272	0.0037	36	c.581 others(51): Show c.581+215_581+216insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402667	A A	AAGGGAGG others(29): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 HG02615.hp1 others(2): Show HG01243.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG03139.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0003 a0008c0009 a0001c0001 a0002c0003 a0008c0009	a0001c0001t0141 a0001c0001t0165 a0002c0003t0086 others(2): Show a0001c0001t0141 a0001c0001t0165 a0002c0003t0086 a0008c0009t0033 a0008c0009t0034	a0001c0001t0141g0232 a0001c0001t0165g0251 a0002c0003t0086g0026 others(2): Show a0001c0001t0141g0232 a0001c0001t0165g0251 a0002c0003t0086g0026 a0008c0009t0033g0157 a0008c0009t0034g0084	5	272	0.0184	36	c.581 others(51): Show c.581+215_581+216insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402671	A A	AAGGGAGG others(29): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0055 a0011c0020t0055	a0011c0020t0055g0185 a0011c0020t0055g0185	1	272	0.0037	36	c.581 others(51): Show c.581+211_581+212insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402675	A A	AAGGGAGG others(29): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0031 a0002c0003t0031	a0002c0003t0031g0186 a0002c0003t0031g0186	1	272	0.0037	36	c.581 others(51): Show c.581+207_581+208insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0087 a0002c0003t0087	a0002c0003t0087g0077 a0002c0003t0087g0077	1	272	0.0037	36	c.-15 others(57): Show c.-155+31117_-155+31118insATATATATATATATATATATATTT TTTTTTTTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0100 a0001c0001t0005g0100	1	272	0.0037	36	c.-15 others(57): Show c.-155+31117_-155+31118insATATATATATATATATATATATAT ATTTTTTTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN18_chr2_130351056_130380405	130361518	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0090 a0002c0003t0003g0090	1	380	0.0026	36	c.414 others(53): Show c.414+1873_414+1874insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	370	0.0027	36	c.859 others(53): Show c.859-5436_859-5435insATATATATATATATATATATTTTTTTTT TTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0368 a0001c0001t0001g0368	1	370	0.0027	36	c.859 others(53): Show c.859-5436_859-5435insATATATATATATATATATATATATTTTT TTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar

Search by Variant

Search

Search Results (Total: 8848 hits)