Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PTPRG_chr3_61556571_62302609	62265896	T T	TATATACA others(15): Show TATATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03130.hp1 HG03540.hp2 HG03098.hp1 HG03130.hp1 HG03540.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0002 a0008c0009t0002 a0001c0001t0002 a0008c0009t0002	a0001c0001t0002g0035 a0001c0001t0002g0093 a0008c0009t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0093 a0008c0009t0002g0032	3	94	0.0319	22	c.265 others(41): Show c.2657-1513_2657-1512insTATACACACACACACACACACA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62281538	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	94	0.0106	22	c.376 others(37): Show c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRJ_chr11_47975559_48175839	47988879	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0049 a0018c0026t0049	a0018c0026t0049g0008 a0018c0026t0049g0008	1	216	0.0046	22	c.96+ others(37): Show c.96+7876_96+7897dupTTTTTTTTTTTTTTTTTTTTTT	PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRJ_chr11_47975559_48175839	48159122	G G	GGGGTGTG others(15): Show GGGGTGTGTGTGTCTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00609.hp2 others(21): Show HG00438.hp2 HG00597.hp2 HG00609.hp2 HG01071.hp1 HG01257.hp1 HG01261.hp2 HG02040.hp2 HG02071.hp2 HG02451.hp1 HG02486.hp1 HG02602.hp2 HG02698.hp2 HG02738.hp2 HG02970.hp1 HG03486.hp1 NA18962.hp2 NA18971.hp1 NA18977.hp1 NA18988.hp1 NA19084.hp1 NA19085.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0009 a0010 a0021	a0001c0003 a0001c0004 a0002c0001 others(4): Show a0001c0003 a0001c0004 a0002c0001 a0003c0002 a0009c0014 a0010c0013 a0021c0025	a0001c0003t0003 a0001c0003t0005 a0001c0003t0018 others(14): Show a0001c0003t0003 a0001c0003t0005 a0001c0003t0018 a0001c0004t0017 a0002c0001t0002 a0002c0001t0004 a0002c0001t0007 a0002c0001t0019 a0002c0001t0025 a0002c0001t0066 a0003c0002t0004 a0009c0014t0007 a0009c0014t0019 a0009c0014t0063 a0010c0013t0014 a0010c0013t0033 a0021c0025t0015	a0001c0003t0003g0085 a0001c0003t0005g0212 a0001c0003t0018g0121 others(21): Show a0001c0003t0003g0085 a0001c0003t0005g0212 a0001c0003t0018g0121 a0001c0004t0017g0063 a0002c0001t0002g0026 a0002c0001t0002g0056 a0002c0001t0002g0069 a0002c0001t0002g0076 a0002c0001t0004g0054 a0002c0001t0004g0073 a0002c0001t0004g0087 a0002c0001t0007g0017 a0002c0001t0019g0119 a0002c0001t0025g0029 a0002c0001t0025g0030 a0002c0001t0025g0032 a0002c0001t0066g0057 a0003c0002t0004g0210 a0009c0014t0007g0025 a0009c0014t0019g0021 a0009c0014t0063g0024 a0010c0013t0014g0120 a0010c0013t0033g0113 a0021c0025t0015g0015	24	216	0.1111	22	c.343 others(39): Show c.3439-807_3439-806insGGTGTGTGTGTCTGTGTGTGTG	PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRM_chr18_7562316_8411856	7834491	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp1 NA18522.hp1 others(1): Show HG02559.hp1 HG03225.hp1 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0002	a0001c0002t0001g0015 a0001c0003t0001g0019 a0001c0004t0001g0055 others(1): Show a0001c0002t0001g0015 a0001c0003t0001g0019 a0001c0004t0001g0055 a0001c0005t0002g0044	4	80	0.0500	22	c.197 others(41): Show c.197-53598_197-53577dupACACACACACACACACACACAC	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7834491	T T	TACACACA others(15): Show TACACACACACACACACACATAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03195.hp1 HG03540.hp1 HG02896.hp2 HG03195.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0001t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0059 a0001c0001t0005g0036 a0001c0002t0001g0042 a0001c0001t0001g0059 a0001c0001t0005g0036 a0001c0002t0001g0042	3	80	0.0375	22	c.197 others(41): Show c.197-53596_197-53595insTACACACACACACACACACACA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7834491	T T	TACACACA others(15): Show TACACACACACACACACATACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02040.hp1 HG02965.hp1 others(4): Show HG00741.hp1 HG02040.hp1 HG02965.hp1 HG03471.hp1 NA18522.hp2 NA18612.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0012 a0001c0013 a0001c0021	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0006t0002 a0001c0012t0002 a0001c0013t0002 a0001c0021t0001	a0001c0001t0001g0020 a0001c0001t0002g0031 a0001c0003t0002g0011 others(4): Show a0001c0001t0001g0020 a0001c0001t0002g0031 a0001c0003t0002g0011 a0001c0006t0002g0030 a0001c0012t0002g0035 a0001c0013t0002g0034 a0001c0021t0001g0062	7	80	0.0875	22	c.197 others(41): Show c.197-53598_197-53597insTACACACACACACACACACACA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7842930	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03225.hp2 HG03453.hp1 others(2): Show HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0003c0015	a0001c0001t0003 a0001c0001t0004 a0001c0005t0003 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0005t0003 a0001c0006t0003 a0003c0015t0002	a0001c0001t0003g0075 a0001c0001t0004g0069 a0001c0005t0003g0076 others(2): Show a0001c0001t0003g0075 a0001c0001t0004g0069 a0001c0005t0003g0076 a0001c0006t0003g0078 a0003c0015t0002g0039	5	80	0.0625	22	c.197 others(41): Show c.197-45175_197-45174insGTGTGTATATATATATATATAT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7842947	T T	TATATATA others(15): Show TATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	80	0.0125	22	c.197 others(41): Show c.197-45158_197-45157insTATATATATATAGAGAGAGAGA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7960480	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0006 a0001c0019t0001g0006	1	80	0.0125	22	c.113 others(41): Show c.1132+5067_1132+5068insTATATATATATATATATACACA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7984602	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	80	0.0125	22	c.113 others(43): Show c.1132+29189_1132+29190insTATATATATATATATATATACA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	8023831	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	80	0.0125	22	c.113 others(43): Show c.1133-45836_1133-45815dupACACACACACACACACACACAC	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	8054298	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0054 a0002c0007t0001g0054	1	80	0.0125	22	c.113 others(43): Show c.1133-15385_1133-15364dupATATATATATATATATATATAT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	8240499	G G	GGAAGGAA others(15): Show GGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03130.hp2 NA18522.hp2 HG02965.hp2 HG03130.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0003t0001 a0001c0008t0002 a0001c0001t0001 a0001c0003t0001 a0001c0008t0002	a0001c0001t0001g0020 a0001c0003t0001g0041 a0001c0008t0002g0025 a0001c0001t0001g0020 a0001c0003t0001g0041 a0001c0008t0002g0025	3	80	0.0375	22	c.230 others(41): Show c.2301-3559_2301-3558insGAAGGAAGGAAGGAAGGAAGGA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	14/32			chr18	TogoVar
PTPRM_chr18_7562316_8411856	8289539	T T	TATATATA others(15): Show TATATATACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0033 a0001c0003t0002g0033	1	80	0.0125	22	c.275 others(41): Show c.2755-6822_2755-6821insCATATATATATACACATATATA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	8344448	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp1 HG02965.hp2 HG02976.hp1	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0002 a0001c0008t0002 a0001c0006t0002 a0001c0008t0002	a0001c0006t0002g0038 a0001c0008t0002g0025 a0001c0006t0002g0038 a0001c0008t0002g0025	2	80	0.0250	22	c.305 others(39): Show c.3054+929_3054+930insGTGTGTATATATATATATATAT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	23/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRO_chr12_15317508_15603331	15319970	T T	TATACATA others(15): Show TATACATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01515.hp1 HG01981.hp2 others(9): Show HG00735.hp1 HG01515.hp1 HG01981.hp2 HG03017.hp1 HG03491.hp2 HG03492.hp1 HG04115.hp1 NA18946.hp2 NA18949.hp2 NA18981.hp2 NA19065.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0010g0022 a0001c0001t0010g0023 a0001c0001t0014g0001 a0001c0002t0001g0008 a0001c0002t0001g0013 a0001c0003t0001g0012 a0001c0004t0001g0017	12	164	0.0732	22	c.-27 others(33): Show c.-2757_-2756insATACATATATATATATATATAC	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding		2537		chr12	TogoVar
PTPRO_chr12_15317508_15603331	15319970	T T	TATATACA others(15): Show TATATACATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 NA18989.hp2 NA19056.hp1 HG01169.hp1 NA18989.hp2 NA19056.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0007 a0001c0004t0001g0024 a0001c0004t0001g0025 a0001c0004t0001g0007 a0001c0004t0001g0024 a0001c0004t0001g0025	3	164	0.0183	22	c.-27 others(33): Show c.-2757_-2756insATATACATATATATATATATAC	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding		2537		chr12	TogoVar
PTPRQ_chr12_80439235_80685273	80514402	A A	ACACACAC others(15): Show ACACACACACACACACACTCTCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02300.hp1 HG02683.hp2 others(2): Show HG01891.hp1 HG02300.hp1 HG02683.hp2 HG03225.hp1 NA18964.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0017 a0001c0001 a0012c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0012c0017t0002	a0001c0001t0001g0075 a0001c0001t0002g0082 a0001c0001t0003g0037 others(2): Show a0001c0001t0001g0075 a0001c0001t0002g0082 a0001c0001t0003g0037 a0001c0001t0003g0063 a0012c0017t0002g0100	5	178	0.0281	22	c.267 others(41): Show c.2678+3960_2678+3961insACACACACACACACACTCTCTC	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	17/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRQ_chr12_80439235_80685273	80514402	A A	ACACACAC others(15): Show ACACACACACACACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03041.hp1 HG03540.hp1 HG00738.hp2 HG03041.hp1 HG03540.hp1	a0001 a0045 a0060 a0001 a0045 a0060	a0001c0013 a0045c0071 a0060c0072 a0001c0013 a0045c0071 a0060c0072	a0001c0013t0002 a0045c0071t0003 a0060c0072t0002 a0001c0013t0002 a0045c0071t0003 a0060c0072t0002	a0001c0013t0002g0043 a0045c0071t0003g0131 a0060c0072t0002g0132 a0001c0013t0002g0043 a0045c0071t0003g0131 a0060c0072t0002g0132	3	178	0.0169	22	c.267 others(41): Show c.2678+3960_2678+3961insACACACACACACACTCTCTCTC	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	17/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRQ_chr12_80439235_80685273	80608563	C C	CTTATAAA others(15): Show CTTATAAATTATAAATTTATAAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0020 a0020	a0020c0019 a0020c0019	a0020c0019t0001 a0020c0019t0001	a0020c0019t0001g0042 a0020c0019t0001g0042	1	178	0.0056	22	c.473 others(41): Show c.4732-1860_4732-1839dupTTATAATTTATAAATTATAAAT	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	27/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRR_chr12_70633079_70925738	70821213	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03490.hp1 HG03831.hp2 others(7): Show HG01071.hp2 HG03490.hp1 HG03831.hp2 NA18947.hp2 NA18949.hp2 NA18964.hp1 NA19000.hp1 NA19054.hp1 NA19078.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0006c0007 a0001c0001 a0001c0004 a0006c0007	a0001c0001t0001 a0001c0004t0001 a0006c0007t0001 a0001c0001t0001 a0001c0004t0001 a0006c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0112 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0112 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0174 a0001c0001t0001g0202 a0001c0004t0001g0169 a0006c0007t0001g0083	10	204	0.0490	22	c.358 others(41): Show c.358-56457_358-56436dupAAAAAAAAAAAAAAAAAAAAAA	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	2/13			chr12	TogoVar
PTPRT_chr20_42067756_43194906	42201950	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0013 a0001c0029t0013	a0001c0029t0013g0057 a0001c0029t0013g0057	1	62	0.0161	22	c.234 others(41): Show c.2343-2584_2343-2563dupACACACACACACACACACACAC	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	15/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42274581	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02897.hp2 HG00738.hp2 HG02897.hp2	a0001 a0001	a0001c0025 a0001c0026 a0001c0025 a0001c0026	a0001c0025t0015 a0001c0026t0007 a0001c0025t0015 a0001c0026t0007	a0001c0025t0015g0028 a0001c0026t0007g0059 a0001c0025t0015g0028 a0001c0026t0007g0059	2	62	0.0323	22	c.217 others(41): Show c.2176+7907_2176+7908insTACACACACACACACACACACA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	13/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42404972	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19030.hp2 HG02280.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0058 a0001c0002t0002g0031 a0001c0002t0002g0058	2	62	0.0323	22	c.156 others(43): Show c.1560+43247_1560+43248insTATATATATATATATATATAAA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	9/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42508125	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0046 a0001c0003t0018g0046	1	62	0.0161	22	c.115 others(43): Show c.1154-35564_1154-35563insCACACACACACACACACACACA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42569077	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0016 a0003c0020t0016	a0003c0020t0016g0029 a0003c0020t0016g0029	1	62	0.0161	22	c.115 others(43): Show c.1154-96516_1154-96515insATATATATATATATATATATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42624005	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp1 HG02647.hp2 others(3): Show HG02109.hp2 HG02647.hp1 HG02647.hp2 HG03209.hp2 HG03471.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0027 a0001c0029 others(3): Show a0001c0003 a0001c0027 a0001c0029 a0001c0030 a0002c0004 a0002c0015	a0001c0003t0018 a0001c0027t0028 a0001c0029t0013 others(3): Show a0001c0003t0018 a0001c0027t0028 a0001c0029t0013 a0001c0030t0001 a0002c0004t0002 a0002c0015t0001	a0001c0003t0018g0046 a0001c0027t0028g0049 a0001c0029t0013g0057 others(3): Show a0001c0003t0018g0046 a0001c0027t0028g0049 a0001c0029t0013g0057 a0001c0030t0001g0035 a0002c0004t0002g0005 a0002c0015t0001g0013	6	62	0.0968	22	c.115 others(43): Show c.1153+53860_1153+53861insTTTTTTTTTTTTTTTTTTTTTT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42633818	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02976.hp2 HG02280.hp1 HG02976.hp2	a0004 a0009 a0004 a0009	a0004c0006 a0009c0019 a0004c0006 a0009c0019	a0004c0006t0009 a0009c0019t0008 a0004c0006t0009 a0009c0019t0008	a0004c0006t0009g0051 a0009c0019t0008g0050 a0004c0006t0009g0051 a0009c0019t0008g0050	2	62	0.0323	22	c.115 others(43): Show c.1153+44047_1153+44048insTTATATATATATATATATATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	43180341	A A	ATCTCTCT others(15): Show ATCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03017.hp1 HG02647.hp2 HG03017.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0018 a0002c0005t0012 a0001c0003t0018 a0002c0005t0012	a0001c0003t0018g0046 a0002c0005t0012g0010 a0001c0003t0018g0046 a0002c0005t0012g0010	2	62	0.0323	22	c.88+ others(37): Show c.88+9283_88+9304dupGAGAGAGAGAGAGAGAGAGAGA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PTPRZ1_chr7_121868161_122067036	121905650	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG00738.hp2 others(22): Show HG00597.hp2 HG00609.hp2 HG00738.hp2 HG01257.hp2 HG01258.hp2 HG01993.hp2 HG02129.hp1 HG02258.hp2 HG03704.hp1 HG03710.hp2 HG04115.hp2 HG04199.hp2 NA18747.hp1 NA18946.hp1 NA18980.hp1 NA18983.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18993.hp2 NA19004.hp2 NA19054.hp1 NA19075.hp1 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0021	a0001c0001 a0002c0002 a0002c0006 others(5): Show a0001c0001 a0002c0002 a0002c0006 a0003c0003 a0004c0005 a0005c0004 a0007c0016 a0021c0028	a0001c0001t0002 a0002c0002t0002 a0002c0006t0002 others(5): Show a0001c0001t0002 a0002c0002t0002 a0002c0006t0002 a0003c0003t0003 a0004c0005t0002 a0005c0004t0002 a0007c0016t0006 a0021c0028t0001	a0001c0001t0002g0060 a0001c0001t0002g0073 a0001c0001t0002g0111 others(22): Show a0001c0001t0002g0060 a0001c0001t0002g0073 a0001c0001t0002g0111 a0001c0001t0002g0119 a0001c0001t0002g0120 a0002c0002t0002g0103 a0002c0006t0002g0053 a0002c0006t0002g0077 a0002c0006t0002g0088 a0002c0006t0002g0105 a0003c0003t0003g0145 a0003c0003t0003g0148 a0003c0003t0003g0151 a0003c0003t0003g0156 a0003c0003t0003g0170 a0003c0003t0003g0171 a0003c0003t0003g0172 a0003c0003t0003g0180 a0003c0003t0003g0184 a0004c0005t0002g0078 a0005c0004t0002g0104 a0005c0004t0002g0107 a0005c0004t0002g0109 a0007c0016t0006g0212 a0021c0028t0001g0271	25	312	0.0801	22	c.59- others(39): Show c.59-22500_59-22479dupCACACACACACACACACACACA	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPRZ1_chr7_121868161_122067036	122000646	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0005 a0005	a0005c0032 a0005c0032	a0005c0032t0002 a0005c0032t0002	a0005c0032t0002g0124 a0005c0032t0002g0124	1	312	0.0032	22	c.124 others(41): Show c.1240+2675_1240+2696dupATATATATATATATATATATAT	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	10/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PUM1_chr1_30926506_31070717	30942191	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18942.hp1 NA18522.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0195 a0001c0001t0002g0081 a0001c0001t0002g0195	2	334	0.0060	22	c.299 others(37): Show c.2995-90_2995-69dupTATATATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	18/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30957087	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	334	0.0030	22	c.232 others(41): Show c.2324-3128_2324-3107dupGTGTGTGTGTGTGTGTGTGTGT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	14/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972267	A A	AGGAGAGG others(15): Show AGGAGAGGAGAGGAGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0010 a0001c0002t0004g0010	1	334	0.0030	22	c.150 others(41): Show c.1506+2383_1506+2384insCCTCCCCTCTCCTCTCCTCTCC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038956	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01943.hp2 HG01496.hp1 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0244 a0001c0002t0001g0107 a0001c0002t0001g0244	2	334	0.0060	22	c.364 others(41): Show c.364-10093_364-10092insTATATATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038958	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	334	0.0030	22	c.364 others(41): Show c.364-10116_364-10095dupTATATATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	334	0.0030	22	c.364 others(41): Show c.364-10121_364-10120insAATATATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19240.hp1 HG02027.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0015 a0001c0002t0001 a0001c0002t0015	a0001c0002t0001g0246 a0001c0002t0015g0269 a0001c0002t0001g0246 a0001c0002t0015g0269	2	334	0.0060	22	c.364 others(41): Show c.364-10121_364-10120insAAAATATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18966.hp1 HG03540.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0057 a0001c0001t0008g0183 a0001c0001t0005g0057 a0001c0001t0008g0183	2	334	0.0060	22	c.364 others(41): Show c.364-10121_364-10120insAAAAAAAATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19004.hp1 NA19030.hp2 HG06807.hp1 NA19004.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0080 a0001c0001t0002g0139 a0001c0001t0002g0045 a0001c0001t0002g0080 a0001c0001t0002g0139	3	334	0.0090	22	c.364 others(41): Show c.364-10121_364-10120insAAAAAAAAAATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	334	0.0030	22	c.364 others(41): Show c.364-10121_364-10120insAAAAAAAAAAAATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0264 a0001c0001t0017g0264	1	334	0.0030	22	c.364 others(41): Show c.364-10121_364-10120insAAAAAAAAAAAAAATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(15): Show ATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	334	0.0030	22	c.364 others(41): Show c.364-10121_364-10120insAAAAAAAAAAAAAAAATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20264367	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0354 a0001c0001t0010g0354	1	358	0.0028	22	c.195 others(39): Show c.1958-929_1958-908dupATATATATATATATATATATAT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01261.hp2 HG01934.hp1 others(14): Show HG00408.hp2 HG01261.hp2 HG01934.hp1 HG02622.hp2 HG03017.hp2 HG03486.hp1 HG03516.hp2 HG04184.hp2 NA18940.hp2 NA18961.hp2 NA18968.hp2 NA19003.hp1 NA19012.hp1 NA19030.hp1 NA19055.hp2 NA19063.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0125 others(14): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0190 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0003g0203 a0001c0001t0010g0353 a0001c0002t0001g0325	17	358	0.0475	22	c.195 others(41): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20332282	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	358	0.0028	22	c.-18 others(39): Show c.-18-4926_-18-4905dupACACACACACACACACACACAC	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	1/20			chr2	TogoVar
PUM3_chr9_2799152_2849095	2821443	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01358.hp2 NA18993.hp2 others(3): Show HG01099.hp2 HG01358.hp2 NA18993.hp2 NA19004.hp1 NA19063.hp2 NA20805.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0004 a0004c0006 a0002c0002 a0003c0004 a0004c0006	a0002c0002t0001 a0003c0004t0001 a0004c0006t0001 a0002c0002t0001 a0003c0004t0001 a0004c0006t0001	a0002c0002t0001g0243 a0003c0004t0001g0030 a0003c0004t0001g0172 others(2): Show a0002c0002t0001g0243 a0003c0004t0001g0030 a0003c0004t0001g0172 a0003c0004t0001g0180 a0004c0006t0001g0155	6	420	0.0143	22	c.118 others(41): Show c.1189-1346_1189-1345insTTTTTTTTTTTTTTTTTTTTTT	PUM3	ENSG00000080608.10	transcript	ENST00000397885.3	protein_coding	12/17			chr9	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	306	0.0033	22	c.11 others(35): Show c.11568_*11569insATATATATATATATATATATAT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7_chr7_105451503_105527271	105455576	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02717.hp1 NA18522.hp1 HG02258.hp1 HG02717.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0014 a0001c0004t0001 a0001c0001t0001 a0001c0001t0014 a0001c0004t0001	a0001c0001t0001g0238 a0001c0001t0014g0239 a0001c0004t0001g0081 a0001c0001t0001g0238 a0001c0001t0014g0239 a0001c0004t0001g0081	3	350	0.0086	22	c.21 others(33): Show c.2192_*2213dupATATATATATATATATATATAT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		926		chr7	TogoVar

Search by Variant

Search

Search Results