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
PTPRD_chr9_8309246_10618002	10277203	A A	AAACATAA others(12): Show AAACATAAACATAAAACATG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02257.hp2 HG03139.hp2 others(1): Show HG01099.hp2 HG02257.hp2 HG03139.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0005 a0001c0001t0001 a0001c0001t0002 a0001c0002t0005	a0001c0001t0001g0006 a0001c0001t0002g0013 a0001c0001t0002g0018 others(1): Show a0001c0001t0001g0006 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0002t0005g0025	4	34	0.1177	19	c.-54 others(40): Show c.-545+63759_-545+63760insCATGTTTTATGTTTATGTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10504115	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0027 a0001c0003t0004g0027	1	34	0.0294	19	c.-60 others(42): Show c.-600+108264_-600+108282dupTTTTTTTTTTTTTTTTTTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10509580	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	34	0.0294	19	c.-60 others(42): Show c.-600+102817_-600+102818insTATATATATATATATATAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRE_chr10_127902103_128090855	127967988	T T	TGCCTCCC others(12): Show TGCCTCCCAGGTTGCTCTAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	304	0.0033	19	c.-30 others(38): Show c.-30-14268_-30-14267insAGCCTCCCAGGTTGCTCTA	PTPRE	ENSG00000132334.17	transcript	ENST00000254667.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPRG_chr3_61556571_62302609	61676456	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0076 a0003c0004t0007g0076	1	94	0.0106	19	c.86- others(36): Show c.86-72404_86-72403insAAAAAAAAAAAAAAAAAAA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62026879	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02809.hp1 HG02922.hp1 others(1): Show HG01099.hp1 HG02809.hp1 HG02922.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0004 a0001c0001 a0001c0008 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0008t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0008t0005 a0003c0004t0001	a0001c0001t0001g0033 a0001c0001t0003g0023 a0001c0008t0005g0068 others(1): Show a0001c0001t0001g0033 a0001c0001t0003g0023 a0001c0008t0005g0068 a0003c0004t0001g0002	4	94	0.0426	19	c.519 others(38): Show c.519+23397_519+23398insAAAAAAAAAAAAAAAAAAA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRJ_chr11_47975559_48175839	48046913	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0037 a0001c0006t0037	a0001c0006t0037g0215 a0001c0006t0037g0215	1	216	0.0046	19	c.97- others(36): Show c.97-63145_97-63144insATATATATATATATATATA	PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	1/24			chr11	TogoVar
PTPRJ_chr11_47975559_48175839	48049565	C C	CAAAACAA others(12): Show CAAAACAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0075 a0001c0003t0013g0075	1	216	0.0046	19	c.97- others(36): Show c.97-60491_97-60490insAACAAAACAAAACAAAAAA	PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRK_chr6_127963785_128525599	128174853	T T	TGCACTCA others(12): Show TGCACTCACAGAGCCTAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02559.hp2 NA21309.hp2 HG00280.hp1 HG02559.hp2 NA21309.hp2	a0001 a0001	a0001c0012 a0001c0013 a0001c0014 a0001c0012 a0001c0013 a0001c0014	a0001c0012t0001 a0001c0013t0002 a0001c0014t0007 a0001c0012t0001 a0001c0013t0002 a0001c0014t0007	a0001c0012t0001g0049 a0001c0013t0002g0045 a0001c0014t0007g0005 a0001c0012t0001g0049 a0001c0013t0002g0045 a0001c0014t0007g0005	3	53	0.0566	19	c.116 others(38): Show c.1162+9578_1162+9579insTTTTAGGCTCTGTGAGTGC	PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	7/29			chr6	TogoVar
PTPRM_chr18_7562316_8411856	8372056	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	80	0.0125	19	c.317 others(38): Show c.3171+1058_3171+1076dupTTTTTTTTTTTTTTTTTTT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRO_chr12_15317508_15603331	15448339	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01167.hp2 HG01243.hp1 others(8): Show HG00423.hp1 HG01167.hp2 HG01243.hp1 HG01934.hp1 HG02074.hp2 HG02083.hp1 HG06807.hp2 NA18943.hp1 NA18988.hp2 NA18989.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001	a0001c0001t0001g0091 a0001c0001t0001g0122 a0001c0001t0001g0136 others(8): Show a0001c0001t0001g0091 a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0002t0001g0132 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0003g0129 a0001c0003t0001g0106 a0001c0004t0001g0055 a0001c0007t0001g0053	11	164	0.0671	19	c.76- others(36): Show c.76-35632_76-35614dupAAAAAAAAAAAAAAAAAAA	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRO_chr12_15317508_15603331	15473768	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0051 a0001c0003t0001g0051	1	164	0.0061	19	c.76- others(36): Show c.76-10202_76-10184dupAAAAAAAAAAAAAAAAAAA	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRR_chr12_70633079_70925738	70821213	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02683.hp2 HG04228.hp2 others(2): Show HG02027.hp2 HG02683.hp2 HG04228.hp2 NA18945.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0127 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0005g0204	5	204	0.0245	19	c.358 others(38): Show c.358-56454_358-56436dupAAAAAAAAAAAAAAAAAAA	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	2/13			chr12	TogoVar
PTPRS_chr19_5200508_5345812	5228347	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0003 a0001c0027t0003	a0001c0027t0003g0010 a0001c0027t0003g0010	1	276	0.0036	19	c.237 others(36): Show c.2376+968_2376+969insTTTTTTTTTTTTTTTTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	16/37			chr19	TogoVar
PTPRS_chr19_5200508_5345812	5272595	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01361.hp2 HG00735.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0153 a0001c0001t0001g0154	2	276	0.0073	19	c.379 others(34): Show c.379+828_379+846dupTTTTTTTTTTTTTTTTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	4/37			chr19	TogoVar
PTPRS_chr19_5200508_5345812	5305939	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0127 a0001c0009t0005g0127	1	276	0.0036	19	c.-94 others(38): Show c.-94-19724_-94-19706dupTTTTTTTTTTTTTTTTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	1/37			chr19	TogoVar
PTPRS_chr19_5200508_5345812	5343739	G G	GCCGGAGC others(12): Show GCCGGAGCGTGGAAGCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0033 a0001c0009t0033	a0001c0009t0033g0078 a0001c0009t0033g0078	1	276	0.0036	19	c.-31 others(30): Show c.-3171_-3170insAAAGGCTTCCACGCTCCGG	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding		2928		chr19	TogoVar
PTPRT_chr20_42067756_43194906	42363300	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0001 a0002c0004t0002g0001	1	62	0.0161	19	c.156 others(40): Show c.1561-11016_1561-11015insAAAAAAAAAAATATATATA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	9/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42648820	G G	GTTGTTTT others(12): Show GTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0008 a0003c0006t0008	a0003c0006t0008g0054 a0003c0006t0008g0054	1	62	0.0161	19	c.115 others(40): Show c.1153+29045_1153+29046insAAAAAAAAAAAAAAAACAA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	43042708	C C	CCCTCCCA others(12): Show CCCTCCCACCCGCCATCTCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01109.hp2 others(35): Show HG00741.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp2 HG01496.hp1 HG02109.hp1 HG02109.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0002 a0001c0003 a0001c0007 others(21): Show a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0018 a0001c0022 a0001c0023 a0001c0026 a0001c0030 a0001c0031 a0002c0001 a0002c0004 a0002c0009 a0002c0011 a0002c0013 a0002c0014 a0002c0015 a0002c0016 a0003c0006 a0004c0020 a0004c0024 a0005c0028 a0007c0010 a0008c0012	a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 others(33): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0014 a0001c0002t0022 a0001c0002t0023 a0001c0003t0001 a0001c0003t0002 a0001c0003t0018 a0001c0003t0020 a0001c0007t0001 a0001c0008t0001 a0001c0008t0005 a0001c0018t0003 a0001c0022t0021 a0001c0023t0007 a0001c0026t0007 a0001c0030t0001 a0001c0031t0001 a0002c0001t0003 a0002c0001t0011 a0002c0001t0025 a0002c0004t0002 a0002c0004t0024 a0002c0009t0001 a0002c0011t0006 a0002c0013t0001 a0002c0014t0007 a0002c0015t0001 a0002c0016t0030 a0003c0006t0008 a0004c0020t0016 a0004c0024t0005 a0005c0028t0027 a0007c0010t0009 a0008c0012t0005	a0001c0002t0002g0058 a0001c0002t0003g0040 a0001c0002t0006g0036 others(35): Show a0001c0002t0002g0058 a0001c0002t0003g0040 a0001c0002t0006g0036 a0001c0002t0006g0039 a0001c0002t0014g0052 a0001c0002t0022g0055 a0001c0002t0023g0044 a0001c0003t0001g0038 a0001c0003t0002g0043 a0001c0003t0018g0046 a0001c0003t0020g0047 a0001c0007t0001g0061 a0001c0008t0001g0060 a0001c0008t0005g0037 a0001c0018t0003g0030 a0001c0022t0021g0045 a0001c0023t0007g0034 a0001c0026t0007g0059 a0001c0030t0001g0035 a0001c0031t0001g0056 a0002c0001t0003g0008 a0002c0001t0011g0019 a0002c0001t0011g0020 a0002c0001t0025g0002 a0002c0004t0002g0005 a0002c0004t0024g0006 a0002c0009t0001g0018 a0002c0011t0006g0003 a0002c0013t0001g0016 a0002c0014t0007g0004 a0002c0015t0001g0013 a0002c0016t0030g0014 a0003c0006t0008g0054 a0004c0020t0016g0029 a0004c0024t0005g0032 a0005c0028t0027g0042 a0007c0010t0009g0021 a0008c0012t0005g0017	38	62	0.6129	19	c.88+ others(38): Show c.88+146919_88+146937dupAGAGATGGCGGGTGGGAGG	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	334	0.0030	19	c.364 others(38): Show c.364-10121_364-10120insAAATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	334	0.0030	19	c.364 others(38): Show c.364-10121_364-10120insAAAAATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0259 a0001c0002t0001g0259	1	334	0.0030	19	c.364 others(38): Show c.364-10121_364-10120insAAAAAAATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG04199.hp2 NA18939.hp2 HG01433.hp2 HG04199.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0084 a0001c0001t0005g0123 a0001c0001t0005g0059 a0001c0001t0005g0084 a0001c0001t0005g0123	3	334	0.0090	19	c.364 others(38): Show c.364-10121_364-10120insAAAAAAAAAAAAATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18964.hp2 NA18968.hp1 others(1): Show HG03654.hp1 NA18964.hp2 NA18968.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0112 a0001c0001t0005g0115 a0001c0001t0005g0179 others(1): Show a0001c0001t0005g0112 a0001c0001t0005g0115 a0001c0001t0005g0179 a0001c0001t0005g0180	4	334	0.0120	19	c.364 others(38): Show c.364-10121_364-10120insAAAAAAAAAAAAAAATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20261394	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	358	0.0028	19	c.222 others(36): Show c.2226-947_2226-929dupTTTTTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	14/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20264365	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	358	0.0028	19	c.195 others(36): Show c.1958-906_1958-905insATATATATATATATATATA	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20264367	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	358	0.0028	19	c.195 others(36): Show c.1958-908_1958-907insATATATATATATATATTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01358.hp1 HG02451.hp2 others(9): Show HG01257.hp2 HG01358.hp1 HG02451.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02976.hp2 HG03225.hp2 NA18947.hp1 NA18978.hp1 NA19060.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0002t0019 a0001c0003t0009	a0001c0001t0001g0186 a0001c0001t0001g0234 a0001c0001t0002g0043 others(9): Show a0001c0001t0001g0186 a0001c0001t0001g0234 a0001c0001t0002g0043 a0001c0001t0002g0062 a0001c0001t0002g0079 a0001c0001t0008g0228 a0001c0001t0009g0332 a0001c0001t0009g0334 a0001c0001t0013g0316 a0001c0001t0013g0317 a0001c0002t0019g0327 a0001c0003t0009g0337	12	358	0.0335	19	c.195 others(38): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM3_chr9_2799152_2849095	2821443	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 NA18522.hp2 others(4): Show HG00544.hp1 HG00558.hp2 NA18522.hp2 NA18984.hp1 NA18988.hp2 NA18992.hp2 NA19067.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0010 a0003c0004t0001g0160 a0003c0004t0001g0175 others(1): Show a0003c0004t0001g0010 a0003c0004t0001g0160 a0003c0004t0001g0175 a0003c0004t0001g0311	7	420	0.0167	19	c.118 others(38): Show c.1189-1364_1189-1346dupTTTTTTTTTTTTTTTTTTT	PUM3	ENSG00000080608.10	transcript	ENST00000397885.3	protein_coding	12/17			chr9	TogoVar
PUS3_chr11_125888485_125908206	125904265	T T	TCGCCCCG others(12): Show TCGCCCCGCTCTCTGCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02451.hp1 others(5): Show HG01891.hp1 HG02258.hp2 HG02451.hp1 HG02622.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp1 HG03491.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0006 a0009c0013 a0001c0001 a0003c0006 a0009c0013	a0001c0001t0005 a0003c0006t0008 a0009c0013t0008 a0001c0001t0005 a0003c0006t0008 a0009c0013t0008	a0001c0001t0005g0003 a0003c0006t0008g0017 a0003c0006t0008g0060 others(1): Show a0001c0001t0005g0003 a0003c0006t0008g0017 a0003c0006t0008g0060 a0009c0013t0008g0061	8	450	0.0178	19	c.-11 others(30): Show c.-1161_-1143dupGAGGGCAGAGAGCGGGGCG	PUS3	ENSG00000110060.9	transcript	ENST00000227474.8	protein_coding		1060		chr11	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 NA18984.hp1 NA19089.hp1 HG00597.hp1 NA18984.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0178 a0002c0002t0003g0017 a0002c0002t0003g0208 a0002c0002t0002g0178 a0002c0002t0003g0017 a0002c0002t0003g0208	3	306	0.0098	19	c.11 others(32): Show c.11568_*11569insATATATATATATATATTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7_chr7_105451503_105527271	105456076	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	350	0.0029	19	c.17 others(30): Show c.1713_*1714insATATATATATATATATTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		426		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456076	A A	AAATATAT others(12): Show AAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG03209.hp2 HG01192.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0247 a0001c0001t0003g0269 a0001c0001t0001g0247 a0001c0001t0003g0269	2	350	0.0057	19	c.17 others(30): Show c.1713_*1714insATATATATATATATATATT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		426		chr7	TogoVar
PUS7_chr7_105451503_105527271	105505003	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01517.hp2 HG03688.hp1 others(1): Show HG01256.hp1 HG01517.hp2 HG03688.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0133 a0001c0001t0002g0304 a0001c0001t0002g0306 others(1): Show a0001c0001t0001g0133 a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0002g0312	4	350	0.0114	19	c.585 others(34): Show c.585+951_585+952insAAAAAAAAAAAAAAAAAAA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	4/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105509184	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02155.hp2 NA18989.hp2 HG02027.hp2 HG02155.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0338 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0338 a0001c0001t0004g0340 a0001c0001t0004g0341	3	350	0.0086	19	c.-32 others(34): Show c.-32-659_-32-641dupTTTTTTTTTTTTTTTTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105515791	T T	TTTATTTA others(12): Show TTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	350	0.0029	19	c.-33 others(36): Show c.-33+6260_-33+6261insTAAATAAATAAATAAATAA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PVR_chr19_44638910_44671162	44668544	A A	AATTATAT others(12): Show AATTATATAATTATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG02647.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0027 a0001c0004t0026 a0001c0004t0027	a0001c0004t0026g0172 a0001c0004t0027g0173 a0001c0004t0026g0172 a0001c0004t0027g0173	2	412	0.0049	19	c.67 others(30): Show c.6733_*6734insATTATATAATTATATACAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		2383		chr19	TogoVar
PXDNL_chr8_51314577_51814445	51455115	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03579.hp2 NA18906.hp2 HG01975.hp1 HG03579.hp2 NA18906.hp2	a0001 a0012 a0014 a0001 a0012 a0014	a0001c0001 a0012c0013 a0014c0014 a0001c0001 a0012c0013 a0014c0014	a0001c0001t0001 a0012c0013t0001 a0014c0014t0001 a0001c0001t0001 a0012c0013t0001 a0014c0014t0001	a0001c0001t0001g0078 a0012c0013t0001g0058 a0014c0014t0001g0056 a0001c0001t0001g0078 a0012c0013t0001g0058 a0014c0014t0001g0056	3	122	0.0246	19	c.983 others(36): Show c.983-1331_983-1330insTTTTTTTTTTTTTTTTTTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	9/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51577923	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0020 a0020	a0020c0035 a0020c0035	a0020c0035t0003 a0020c0035t0003	a0020c0035t0003g0011 a0020c0035t0003g0011	1	122	0.0082	19	c.308 others(38): Show c.308+14703_308+14704insCTTTCTTTCTTTCTTTCTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1710673	T T	TCCACCAG others(12): Show TCCACCAGCACCCACTCTCC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG04184.hp1 HG02080.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0045 a0001c0001 a0001c0045	a0001c0001t0002 a0001c0045t0002 a0001c0001t0002 a0001c0045t0002	a0001c0001t0002g0271 a0001c0045t0002g0119 a0001c0001t0002g0271 a0001c0045t0002g0119	2	322	0.0062	19	c.201 others(38): Show c.201-17540_201-17539insGGAGAGTGGGTGCTGGTGG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1716440	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	322	0.0031	19	c.201 others(38): Show c.201-23325_201-23307dupTTTTTTTTTTTTTTTTTTT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1720610	C C	CGCTCTCT others(12): Show CGCTCTCTCTGCATCTCTTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0012 a0012	a0012c0038 a0012c0038	a0012c0038t0001 a0012c0038t0001	a0012c0038t0001g0238 a0012c0038t0001g0238	1	322	0.0031	19	c.200 others(38): Show c.200+23645_200+23646insAAAGAGATGCAGAGAGAGC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXK_chr3_58327892_58431127	58336071	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	300	0.0033	19	c.102 others(36): Show c.102+2982_102+2983insATATATATATATATATATT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXK_chr3_58327892_58431127	58336071	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0045 a0001c0005t0007g0045	1	300	0.0033	19	c.102 others(36): Show c.102+2982_102+2983insATATATATATATATATTTT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXK_chr3_58327892_58431127	58378512	T T	TTTTTTTG others(12): Show TTTTTTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	300	0.0033	19	c.202 others(36): Show c.202-4001_202-4000insTTTTTGTGTGTGTGTGTGT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXMP4_chr20_33697758_33725310	33717639	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0045 a0001c0008t0045	a0001c0008t0045g0053 a0001c0008t0045g0053	1	388	0.0026	19	c.113 others(36): Show c.113+2437_113+2455dupTTTTTTTTTTTTTTTTTTT	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding	1/3			chr20	TogoVar
PXT1_chr6_36385551_36447854	36425800	C C	CAAAAACA others(12): Show CAAAAACAAACAAACAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	390	0.0026	19	c.169 others(34): Show c.169+113_169+114insTTTTTGTTTGTTTGTTTTT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	3/4			chr6	TogoVar
PXT1_chr6_36385551_36447854	36425800	C C	CAAAAACA others(12): Show CAAAAACAAACAAACAAACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	390	0.0026	19	c.169 others(34): Show c.169+113_169+114insTGTTTGTTTGTTTGTTTTT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	3/4			chr6	TogoVar
PYCR2_chr1_225914878_225929250	225925498	T T	TTTTATTT others(12): Show TTTTATTTATTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	448	0.0022	19	c.-13 others(30): Show c.-1389_-1388insTAAATAAATAATAAATAAA	PYCR2	ENSG00000143811.20	transcript	ENST00000343818.11	protein_coding		1249		chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)