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
PDGFA_chr7_492258_524846	510747	AGGAGGGG others(18): Show AGGAGGGGAGGGGAGAGGAGAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03486.hp2 HG02818.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0279 a0001c0001t0021g0138 a0001c0001t0004g0279 a0001c0001t0021g0138	2	274	0.0073	-25	c.453 others(38): Show c.453+37_453+61delCCTCCTCTCCTCTCCCCTCCCCTCC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDGFB_chr22_39218359_39249982	39247876	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01099.hp1 others(4): Show HG00639.hp2 HG01081.hp1 HG01099.hp1 HG01358.hp2 HG03130.hp1 HG03486.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0022	a0001c0001t0001g0006 a0001c0001t0001g0157 a0001c0001t0002g0022 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0157 a0001c0001t0002g0022 a0001c0001t0003g0049 a0001c0001t0003g0062 a0001c0001t0003g0068 a0001c0001t0022g0060	7	346	0.0202	-25	c.-39 others(36): Show c.-3938_-3914delATATATATATATTTTTTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2895		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247878	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	342	0.0029	-25	c.-39 others(36): Show c.-3940_-3916delATATATATATATATTTTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2897		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247880	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 NA19030.hp1 HG03516.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0023 a0001c0003t0017 a0001c0003t0023	a0001c0003t0017g0043 a0001c0003t0023g0075 a0001c0003t0017g0043 a0001c0003t0023g0075	2	353	0.0057	-25	c.-39 others(36): Show c.-3942_-3918delATATATATATATATATTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2899		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247882	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0042 a0001c0003t0042	a0001c0003t0042g0198 a0001c0003t0042g0198	1	379	0.0026	-25	c.-39 others(36): Show c.-3944_-3920delATATATATATATATATATTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2901		chr22	TogoVar
PDGFC_chr4_156755454_156976799	156891279	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp2 HG01069.hp1 others(76): Show HG00438.hp2 HG00639.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01358.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG02015.hp2 HG02040.hp1 HG02080.hp2 HG02129.hp2 HG02155.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18942.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18961.hp1 NA18964.hp2 NA18972.hp1 NA18977.hp1 NA18980.hp2 NA18985.hp1 NA18986.hp2 NA18989.hp1 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp2 NA19079.hp2 NA19084.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0022 a0001c0001t0024 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0025 a0001c0002t0026 a0002c0004t0015	a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0044 others(76): Show a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0072 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0154 a0001c0001t0002g0005 a0001c0001t0002g0020 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0060 a0001c0001t0002g0094 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0112 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0136 a0001c0001t0002g0144 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0178 a0001c0001t0004g0089 a0001c0001t0005g0048 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0006g0024 a0001c0001t0006g0033 a0001c0001t0006g0039 a0001c0001t0006g0117 a0001c0001t0006g0156 a0001c0001t0008g0163 a0001c0001t0009g0099 a0001c0001t0016g0182 a0001c0001t0016g0184 a0001c0001t0022g0057 a0001c0001t0024g0012 a0001c0002t0002g0028 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0040 a0001c0002t0002g0046 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0055 a0001c0002t0002g0061 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0086 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0100 a0001c0002t0002g0107 a0001c0002t0002g0140 a0001c0002t0002g0147 a0001c0002t0002g0164 a0001c0002t0002g0167 a0001c0002t0005g0062 a0001c0002t0005g0063 a0001c0002t0005g0070 a0001c0002t0005g0123 a0001c0002t0006g0038 a0001c0002t0006g0082 a0001c0002t0025g0081 a0001c0002t0026g0158 a0002c0004t0015g0179	79	87	0.9080	-25	c.119 others(44): Show c.119-40888_119-40864delTTTTTTTTTTTTTTTTTTTTTTTTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFRL_chr8_17572216_17648144	17579098	TGAGGCAG others(18): Show TGAGGCAGAGAACTGCTTGAACCTGG	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18947.hp1 NA18969.hp2 others(3): Show NA18612.hp1 NA18947.hp1 NA18969.hp2 NA19009.hp1 NA19011.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0054 a0001c0001t0001g0347 a0001c0001t0001g0356 others(3): Show a0001c0001t0001g0054 a0001c0001t0001g0347 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0001g0360 a0001c0002t0001g0053	6	398	0.0151	-25	c.55+ others(40): Show c.55+1801_55+1825delAACTGCTTGAACCTGGGAGGCAGAG	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDIA4_chr7_148998062_149033505	149017694	AAAATAAA others(18): Show AAAATAAAATTAAATACATTTTATCG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0017 a0001c0020t0017	a0001c0020t0017g0213 a0001c0020t0017g0213	1	350	0.0029	-25	c.475 others(42): Show c.475+1273_475+1297delCGATAAAATGTATTTAATTTTATTT	PDIA4	ENSG00000155660.11	transcript	ENST00000652332.1	protein_coding	3/9			chr7	TogoVar
PDLIM1_chr10_95232572_95296003	95256985	AAAAAGAA others(18): Show AAAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0122	1	283	0.0035	-25	c.533 others(42): Show c.533+6854_533+6878delCTTTCTTTCTTTCTTTCTTTCTTTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDS5A_chr4_39817863_39982911	39909040	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	91	0.0110	-25	c.108 others(42): Show c.1088-525_1088-501delATTTTATTTTATTTTATTTTATTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	10/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32635170	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18956.hp1 HG02257.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0031 a0001c0001t0005 a0001c0001t0031	a0001c0001t0005g0174 a0001c0001t0031g0299 a0001c0001t0005g0174 a0001c0001t0031g0299	2	8	0.2500	-25	c.-19 others(44): Show c.-19-13563_-19-13539delTTTTTTTTTTTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDSS1_chr10_26692701_26751798	26696732	ATTTCCTC others(18): Show ATTTCCTCATTAGAGTGAATTTTTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	414	0.0024	-25	c.-97 others(34): Show c.-979_-955delTTTCCTCATTAGAGTGAATTTTTTG	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		968		chr10	TogoVar
PDXK_chr21_43714129_43767299	43734160	CTGTGGGT others(18): Show CTGTGGGTGTGAGGGACGGGGCGGAG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02486.hp1 HG02895.hp2 others(5): Show HG01496.hp2 HG02486.hp1 HG02895.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0037 a0001c0001t0052 a0001c0003t0008 others(3): Show a0001c0001t0037 a0001c0001t0052 a0001c0003t0008 a0001c0003t0038 a0001c0003t0039 a0001c0003t0103	a0001c0001t0037g0327 a0001c0001t0052g0348 a0001c0003t0008g0013 others(5): Show a0001c0001t0037g0327 a0001c0001t0052g0348 a0001c0003t0008g0013 a0001c0003t0008g0014 a0001c0003t0008g0307 a0001c0003t0038g0325 a0001c0003t0039g0326 a0001c0003t0103g0022	8	356	0.0225	-25	c.142 others(39): Show c.142+84_142+108delGGAGTGTGGGTGTGAGGGACGGGGC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741267	CGGGGGGG others(18): Show CGGGGGGGCTCGCGGGGGGGCTCGCG	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03098.hp2 NA19067.hp1 HG02896.hp2 HG03098.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0014 a0001c0002t0003 a0001c0001t0013 a0001c0001t0014 a0001c0002t0003	a0001c0001t0013g0223 a0001c0001t0014g0189 a0001c0002t0003g0107 a0001c0001t0013g0223 a0001c0001t0014g0189 a0001c0002t0003g0107	3	267	0.0112	-25	c.143 others(40): Show c.143-393_143-369delGCTCGCGGGGGGGCTCGCGGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741394	CGGGGGGG others(18): Show CGGGGGGGCTCGCGGGGGGGCTCGCG	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	249	0.0040	-25	c.143 others(40): Show c.143-266_143-242delGCTCGCGGGGGGGCTCGCGGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXP_chr22_37653723_37671932	37661917	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG03490.hp2 others(3): Show HG00735.hp1 HG01081.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0019 a0001c0001t0001g0077 a0001c0001t0001g0078	6	60	0.1000	-25	c.574 others(42): Show c.574+2579_574+2603delTTTTTTTTTTTTTTTTTTTTTTTTT	PDXP	ENSG00000241360.2	transcript	ENST00000215904.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr22	TogoVar
PDZD2_chr5_31634131_32115932	31988453	ATCACCCT others(18): Show ATCACCCTCCTGGCATGTGGATGTAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02257.hp2 others(14): Show HG01243.hp1 HG01884.hp1 HG02257.hp2 HG02280.hp2 HG02622.hp2 HG02922.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03579.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp2	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0006 a0008 a0029 a0036	a0001c0001 a0001c0005 a0001c0034 others(8): Show a0001c0001 a0001c0005 a0001c0034 a0001c0050 a0004c0006 a0005c0009 a0006c0015 a0006c0016 a0008c0018 a0029c0052 a0036c0030	a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 others(12): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 a0001c0005t0001 a0001c0005t0048 a0001c0034t0019 a0001c0050t0036 a0004c0006t0010 a0005c0009t0013 a0006c0015t0040 a0006c0015t0046 a0006c0016t0001 a0008c0018t0006 a0029c0052t0003 a0036c0030t0033	a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0008g0065 others(14): Show a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0008g0065 a0001c0001t0017g0069 a0001c0005t0001g0066 a0001c0005t0048g0002 a0001c0034t0019g0212 a0001c0050t0036g0187 a0004c0006t0010g0206 a0005c0009t0013g0051 a0005c0009t0013g0058 a0006c0015t0040g0213 a0006c0015t0046g0005 a0006c0016t0001g0100 a0008c0018t0006g0061 a0029c0052t0003g0003 a0036c0030t0033g0103	17	211	0.0806	-25	c.978 others(42): Show c.978+4828_978+4852delCTCCTGGCATGTGGATGTATTCACC	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32003127	ACACACAC others(18): Show ACACACACCACACACACACCACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(102): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02451.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18962.hp1 NA18968.hp1 NA18973.hp1 NA18973.hp2 NA18986.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19057.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0017 a0020 a0021 a0031 a0032 a0033	a0001c0001 a0001c0005 a0001c0007 others(26): Show a0001c0001 a0001c0005 a0001c0007 a0001c0044 a0002c0002 a0002c0003 a0002c0011 a0002c0012 a0002c0040 a0002c0063 a0003c0004 a0003c0008 a0003c0027 a0003c0038 a0004c0006 a0005c0009 a0006c0016 a0007c0013 a0009c0014 a0010c0023 a0011c0043 a0012c0025 a0013c0037 a0017c0031 a0020c0028 a0021c0042 a0031c0021 a0032c0064 a0033c0058	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0018 a0001c0001t0020 a0001c0001t0035 a0001c0001t0044 a0001c0005t0001 a0001c0005t0003 a0001c0007t0009 a0001c0044t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0025 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0011 a0002c0011t0001 a0002c0012t0002 a0002c0040t0032 a0002c0063t0002 a0003c0004t0001 a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 a0003c0004t0011 a0003c0004t0012 a0003c0004t0027 a0003c0008t0012 a0003c0027t0012 a0003c0038t0001 a0004c0006t0007 a0005c0009t0013 a0006c0016t0002 a0007c0013t0004 a0009c0014t0004 a0010c0023t0029 a0011c0043t0002 a0012c0025t0001 a0013c0037t0001 a0017c0031t0001 a0020c0028t0004 a0021c0042t0014 a0031c0021t0003 a0032c0064t0001 a0033c0058t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0049 others(102): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0002g0036 a0001c0001t0002g0095 a0001c0001t0002g0114 a0001c0001t0002g0127 a0001c0001t0003g0008 a0001c0001t0003g0032 a0001c0001t0004g0208 a0001c0001t0006g0041 a0001c0001t0006g0109 a0001c0001t0010g0040 a0001c0001t0018g0167 a0001c0001t0020g0019 a0001c0001t0035g0140 a0001c0001t0044g0006 a0001c0005t0001g0130 a0001c0005t0001g0162 a0001c0005t0003g0014 a0001c0007t0009g0057 a0001c0044t0001g0184 a0002c0002t0001g0115 a0002c0002t0001g0123 a0002c0002t0001g0142 a0002c0002t0001g0165 a0002c0002t0001g0182 a0002c0002t0001g0192 a0002c0002t0002g0089 a0002c0002t0002g0144 a0002c0002t0002g0183 a0002c0002t0002g0214 a0002c0002t0003g0021 a0002c0002t0005g0007 a0002c0002t0005g0025 a0002c0002t0006g0194 a0002c0002t0025g0108 a0002c0003t0001g0157 a0002c0003t0002g0056 a0002c0003t0002g0081 a0002c0003t0002g0088 a0002c0003t0002g0132 a0002c0003t0002g0141 a0002c0003t0002g0147 a0002c0003t0002g0171 a0002c0003t0002g0197 a0002c0003t0005g0016 a0002c0003t0005g0017 a0002c0003t0005g0029 a0002c0003t0011g0149 a0002c0011t0001g0119 a0002c0012t0002g0117 a0002c0040t0032g0143 a0002c0063t0002g0129 a0003c0004t0001g0047 a0003c0004t0001g0137 a0003c0004t0001g0168 a0003c0004t0003g0022 a0003c0004t0004g0151 a0003c0004t0004g0154 a0003c0004t0004g0195 a0003c0004t0005g0031 a0003c0004t0011g0090 a0003c0004t0011g0163 a0003c0004t0012g0013 a0003c0004t0027g0139 a0003c0008t0012g0030 a0003c0027t0012g0015 a0003c0038t0001g0094 a0004c0006t0007g0063 a0004c0006t0007g0201 a0005c0009t0013g0051 a0005c0009t0013g0058 a0006c0016t0002g0082 a0007c0013t0004g0198 a0009c0014t0004g0062 a0010c0023t0029g0180 a0011c0043t0002g0128 a0012c0025t0001g0164 a0013c0037t0001g0166 a0017c0031t0001g0186 a0020c0028t0004g0118 a0021c0042t0014g0071 a0031c0021t0003g0012 a0032c0064t0001g0075 a0033c0058t0001g0174	105	214	0.4907	-25	c.125 others(44): Show c.1254+2860_1254+2884delACACCACACACACACCACACACCAC	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	5/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD8_chr10_117272274_117380440	117281351	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18977.hp2 NA18984.hp2 NA18990.hp1 others(4): Show NA18977.hp2 NA18984.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA19002.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0064 a0001c0001t0010 a0001c0001t0064	a0001c0001t0010g0004 a0001c0001t0010g0208 a0001c0001t0010g0218 others(3): Show a0001c0001t0010g0004 a0001c0001t0010g0208 a0001c0001t0010g0218 a0001c0001t0010g0253 a0001c0001t0010g0258 a0001c0001t0064g0249	7	8	0.8750	-25	c.18 others(36): Show c.1892_*1916delTTTTTTTTTTTTTTTTTTTTTTTTT	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	5/5	1892		chr10	TogoVar
PDZD8_chr10_117272274_117380440	117357765	CCAAAAAA others(18): Show CCAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01168.hp2 HG02083.hp2 others(12): Show HG01167.hp2 HG01168.hp2 HG02083.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02451.hp1 HG02572.hp1 HG02683.hp1 HG02976.hp1 HG02976.hp2 HG03471.hp2 HG04199.hp2 NA18987.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0018	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(9): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0026 a0001c0002t0006 a0001c0002t0022 a0001c0002t0036 a0001c0002t0041 a0001c0002t0042 a0001c0004t0059 a0001c0009t0045 a0001c0018t0006	a0001c0001t0003g0174 a0001c0001t0006g0018 a0001c0001t0007g0159 others(12): Show a0001c0001t0003g0174 a0001c0001t0006g0018 a0001c0001t0007g0159 a0001c0001t0026g0173 a0001c0002t0006g0103 a0001c0002t0006g0107 a0001c0002t0006g0109 a0001c0002t0022g0104 a0001c0002t0022g0105 a0001c0002t0036g0102 a0001c0002t0041g0110 a0001c0002t0042g0111 a0001c0004t0059g0312 a0001c0009t0045g0015 a0001c0018t0006g0140	15	126	0.1190	-25	c.872 others(44): Show c.872+16566_872+16590delTTTTTTTTTTTTTTTTTTTTTTTTG	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4			chr10	TogoVar
PDZK1IP1_chr1_47178582_47195036	47191410	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02055.hp2 others(3): Show HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02451.hp2 HG03540.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0015 a0001c0001t0004g0011 a0001c0001t0001g0015 a0001c0001t0004g0011	6	424	0.0142	-25	c.-15 others(36): Show c.-1503_-1479delCACACACACACACACACACACACAC	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		1375		chr1	TogoVar
PDZRN4_chr12_41183320_41579745	41383969	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02148.hp1 others(26): Show HG01243.hp1 HG02055.hp1 HG02148.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02647.hp1 HG02735.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03017.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03704.hp2 HG04115.hp2 NA18942.hp1 NA18950.hp2 NA18953.hp1 NA18968.hp1 NA18983.hp1 NA19010.hp1 NA19060.hp1 NA19065.hp1 NA19080.hp2 NA19083.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0007 a0014 a0021	a0001c0001 a0001c0010 a0001c0013 others(10): Show a0001c0001 a0001c0010 a0001c0013 a0002c0002 a0002c0009 a0002c0015 a0002c0017 a0004c0003 a0005c0008 a0007c0014 a0007c0018 a0014c0058 a0021c0041	a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 a0001c0010t0004 a0001c0013t0001 a0002c0002t0001 a0002c0002t0002 a0002c0009t0001 a0002c0015t0001 a0002c0017t0002 a0004c0003t0001 a0004c0003t0002 a0005c0008t0001 a0007c0014t0002 a0007c0018t0001 a0014c0058t0001 a0021c0041t0002	a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0002g0014 others(26): Show a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0002g0014 a0001c0001t0002g0155 a0001c0010t0001g0114 a0001c0010t0001g0121 a0001c0010t0004g0118 a0001c0013t0001g0068 a0002c0002t0001g0099 a0002c0002t0001g0184 a0002c0002t0002g0164 a0002c0002t0002g0170 a0002c0009t0001g0197 a0002c0015t0001g0137 a0002c0017t0002g0019 a0004c0003t0001g0082 a0004c0003t0001g0104 a0004c0003t0001g0105 a0004c0003t0001g0106 a0004c0003t0001g0108 a0004c0003t0001g0109 a0004c0003t0001g0120 a0004c0003t0001g0123 a0004c0003t0002g0058 a0005c0008t0001g0165 a0007c0014t0002g0129 a0007c0018t0001g0126 a0014c0058t0001g0173 a0021c0041t0002g0065	29	30	0.9667	-25	c.844 others(46): Show c.844-122460_844-122436delTTTTTTTTTTTTTTTTTTTTTTTT T	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41402184	TATATATA others(18): Show TATATATACACACACACTGAGTATAC	T T	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0073 a0003c0006t0002g0073	1	206	0.0049	-25	c.844 others(46): Show c.844-104264_844-104240delCACACACACTGAGTATACATATAT A	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41402211	TATATATA others(18): Show TATATATACACACACACTGAGTATAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02896.hp2 HG06807.hp1 HG02257.hp1 HG02896.hp2 HG06807.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0013 a0013c0033 a0001c0001 a0001c0013 a0013c0033	a0001c0001t0002 a0001c0013t0001 a0013c0033t0006 a0001c0001t0002 a0001c0013t0001 a0013c0033t0006	a0001c0001t0002g0154 a0001c0013t0001g0084 a0013c0033t0006g0093 a0001c0001t0002g0154 a0001c0013t0001g0084 a0013c0033t0006g0093	3	206	0.0146	-25	c.844 others(46): Show c.844-104237_844-104213delCACACACACTGAGTATACATATAT A	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77193803	TAACTAAA others(18): Show TAACTAAACTAAACTAAACTAAACTA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0293 a0002c0002t0002g0293	1	105	0.0095	-25	c.-11 others(46): Show c.-114-11788_-114-11764delTAGTTTAGTTTAGTTTAGTTTAGT T	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEMT_chr17_17500563_17596708	17586264	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	340	0.0029	-25	c.96+ others(40): Show c.96+5242_96+5266delTCTTTCTTTCTTTCTTTCTTTCTTT	PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	1/6			chr17	TogoVar
PER2_chr2_238239044_238293610	238285676	ACCAGAGG others(18): Show ACCAGAGGCAGGACAGTGCCAGCCCC	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0019 a0019	a0019c0029 a0019c0029	a0019c0029t0019 a0019c0029t0019	a0019c0029t0019g0032 a0019c0029t0019g0032	1	368	0.0027	-25	c.-20 others(42): Show c.-20+2648_-20+2672delGGGGCTGGCACTGTCCTGCCTCTGG	PER2	ENSG00000132326.13	transcript	ENST00000254657.8	protein_coding	1/22			chr2	TogoVar
PERM1_chr1_970198_987093	977724	ACCGACCA others(18): Show ACCGACCAACCCCGGGAACCGCCTCC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01361.hp2 HG01496.hp2 others(8): Show HG00609.hp1 HG01361.hp2 HG01496.hp2 HG02080.hp2 HG02132.hp1 HG02273.hp1 HG02523.hp1 NA18940.hp2 NA18952.hp2 NA19010.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0002 a0001c0020t0002 a0001c0001t0002 a0001c0020t0002	a0001c0001t0002g0005 a0001c0020t0002g0071 a0001c0001t0002g0005 a0001c0020t0002g0071	11	91	0.1209	-25	c.215 others(44): Show c.2150-1125_2150-1101delGGAGGCGGTTCCCGGGGTTGGTCGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PEX12_chr17_35569795_35583571	35570854	CTTTTTCT others(18): Show CTTTTTCTTTCTTTCTTTCTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01433.hp2 HG01975.hp1 others(11): Show HG00621.hp2 HG01433.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02074.hp1 HG02155.hp2 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18992.hp1 NA19067.hp1 NA19072.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0032 a0001c0001t0003g0003 a0001c0001t0003g0032	14	433	0.0323	-25	c.49 others(36): Show c.4903_*4927delAAAAAAAGAAAGAAAGAAAGAAAAA	PEX12	ENSG00000108733.11	transcript	ENST00000225873.9	protein_coding		3940		chr17	TogoVar
PEX12_chr17_35569795_35583571	35583115	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	81	0.0123	-25	c.-51 others(36): Show c.-5119_-5095delAAAAAAAAAAAAAAAAAAAAAAAAA	PEX12	ENSG00000108733.11	transcript	ENST00000225873.9	protein_coding		4545		chr17	TogoVar
PEX14_chr1_10469950_10635758	10577548	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01070.hp1 HG01175.hp2 others(4): Show HG00408.hp1 HG01070.hp1 HG01175.hp2 NA18959.hp1 NA19004.hp2 NA19005.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0106 a0001c0001t0001g0141 a0001c0001t0001g0143 others(4): Show a0001c0001t0001g0106 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0003t0001g0151 a0001c0004t0001g0166	7	237	0.0295	-25	c.170 others(44): Show c.170-21688_170-21664delATATATATATATATTTTTTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577550	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03942.hp1 HG04204.hp2 others(1): Show HG02738.hp2 HG03942.hp1 HG04204.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0137 a0001c0001t0001g0157 a0001c0003t0001g0149 others(1): Show a0001c0001t0001g0137 a0001c0001t0001g0157 a0001c0003t0001g0149 a0001c0004t0001g0152	4	229	0.0175	-25	c.170 others(44): Show c.170-21686_170-21662delATATATATATATTTTTTTTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577552	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18992.hp2 NA18939.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0243 a0001c0001t0001g0159 a0001c0001t0001g0243	2	238	0.0084	-25	c.170 others(44): Show c.170-21684_170-21660delATATATATATTTTTTTTTTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10620291	CAATAAAA others(18): Show CAATAAAATAAAATAAAATAAAATAA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02717.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0248 a0001c0002t0001g0179 a0001c0001t0001g0248 a0001c0002t0001g0179	2	132	0.0152	-25	c.384 others(42): Show c.384+1891_384+1915delATAAAATAAAATAAAATAAAATAAA	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX1_chr7_92482025_92533520	92516040	AGAGAAGA others(18): Show AGAGAAGAGAAGAGAAAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	262	0.0038	-25	c.123 others(44): Show c.1239+1211_1239+1235delCTTTTCTTTTTTCTCTTCTCTTCTC	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX1_chr7_92482025_92533520	92516045	AGAGAAGA others(18): Show AGAGAAGAGAAAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	305	0.0033	-25	c.123 others(44): Show c.1239+1206_1239+1230delCTTTTCTTTTCTTTTTTCTCTTCTC	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PF4V1_chr4_73848296_73859483	73855081	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	299	0.0033	-25	c.96 others(34): Show c.960_*984delTATATATATATATATATATATATAT	PF4V1	ENSG00000109272.4	transcript	ENST00000226524.4	protein_coding		599		chr4	TogoVar
PF4V1_chr4_73848296_73859483	73855083	ATATATAT others(18): Show ATATATATATATATATATATATATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01167.hp1 HG01099.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	422	0.0047	-25	c.96 others(34): Show c.962_*986delTATATATATATATATATATATATTT	PF4V1	ENSG00000109272.4	transcript	ENST00000226524.4	protein_coding		601		chr4	TogoVar
PF4V1_chr4_73848296_73859483	73855087	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	443	0.0023	-25	c.96 others(34): Show c.966_*990delTATATATATATATATATATTTTTTT	PF4V1	ENSG00000109272.4	transcript	ENST00000226524.4	protein_coding		605		chr4	TogoVar
PF4_chr4_73975811_73987027	73982164	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	25	0.0400	-25	c.-23 others(34): Show c.-236_-212delTTTTTTTTTTTTTTTTTTTTTTTTT	PF4	ENSG00000163737.5	transcript	ENST00000296029.4	protein_coding		138		chr4	TogoVar
PFKP_chr10_3062548_3141802	3078241	TCATTGCA others(18): Show TCATTGCAGGTGTGCACGTCTGCCTG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03471.hp1 HG01070.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0002 a0001c0008t0005 a0001c0002t0002 a0001c0008t0005	a0001c0002t0002g0102 a0001c0008t0005g0400 a0001c0002t0002g0102 a0001c0008t0005g0400	2	400	0.0050	-25	c.113 others(42): Show c.113-4126_113-4102delGCCTGCATTGCAGGTGTGCACGTCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3084750	AGCCCCTC others(18): Show AGCCCCTCCCCAGGAGAGTCCTCCAC	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0144 a0001c0002t0003g0144	1	400	0.0025	-25	c.186 others(42): Show c.186+2290_186+2314delGCCCCTCCCCAGGAGAGTCCTCCAC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21			chr10	TogoVar
PFKP_chr10_3062548_3141802	3085145	CCCAGCAC others(18): Show CCCAGCACAGTCCCCCACTCCACTCT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0218 a0001c0012t0002g0218	1	383	0.0026	-25	c.186 others(42): Show c.186+2698_186+2722delCCACTCCACTCTCCAGCACAGTCCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085266	CCCAGCAC others(18): Show CCCAGCACAGTCCCCCACTCCACTCT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03098.hp2 NA18522.hp1 HG01099.hp1 HG03098.hp2 NA18522.hp1	a0001 a0009 a0001 a0009	a0001c0010 a0001c0014 a0009c0048 a0001c0010 a0001c0014 a0009c0048	a0001c0010t0001 a0001c0014t0006 a0009c0048t0013 a0001c0010t0001 a0001c0014t0006 a0009c0048t0013	a0001c0010t0001g0237 a0001c0014t0006g0352 a0009c0048t0013g0353 a0001c0010t0001g0237 a0001c0014t0006g0352 a0009c0048t0013g0353	3	383	0.0078	-25	c.186 others(42): Show c.186+2922_186+2946delCTCCACTCTCCAGCACAGTCCCCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAP6_chr16_365788_386978	381313	AGGCCGGA others(18): Show AGGCCGGACCCGGCCGGTGAGCTCAC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	373	0.0027	-25	c.121 others(40): Show c.121+363_121+387delGTGAGCTCACCGGCCGGGTCCGGCC	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PGBD1_chr6_28276572_28307549	28281635	GCTCTGGG others(18): Show GCTCTGGGGAAACCGGCGCTCCCGAC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG02622.hp2 others(4): Show HG01243.hp1 HG02572.hp1 HG02622.hp2 HG02723.hp1 HG02886.hp2 HG03139.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0004 a0002c0003t0005g0035 a0002c0003t0005g0107 others(2): Show a0002c0003t0005g0004 a0002c0003t0005g0035 a0002c0003t0005g0107 a0002c0003t0005g0108 a0002c0003t0005g0109	7	406	0.0172	-25	c.-32 others(34): Show c.-321_-297delCTCTGGGGAAACCGGCGCTCCCGAC	PGBD1	ENSG00000137338.6	transcript	ENST00000682144.1	protein_coding	1/7	2154		chr6	TogoVar
PGLS_chr19_17506649_17526288	17514033	CCGGTTCT others(18): Show CCGGTTCTCTGTGAGGGGAATCATAT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG04184.hp1 HG04228.hp2 HG03927.hp2 HG04184.hp1 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0004t0001g0123 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0004t0001g0123	3	440	0.0068	-25	c.288 others(42): Show c.288+2080_288+2104delTCTGTGAGGGGAATCATATCGGTTC	PGLS	ENSG00000130313.7	transcript	ENST00000252603.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PGM5_chr9_68351611_68536061	68444614	ATGAGTTG others(18): Show ATGAGTTGAGTCGCATGCCCACTCTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0040 a0001c0001t0028g0040	1	244	0.0041	-25	c.104 others(46): Show c.1044-20476_1044-20452delAGTTGAGTCGCATGCCCACTCTTT G	PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PGR_chr11_101024624_101134813	101046292	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0109 a0001c0001t0065g0109	1	16	0.0625	-25	c.248 others(44): Show c.2488+3612_2488+3636delAAAAAAAAAAAAAAAAAAAAAAAAA	PGR	ENSG00000082175.16	transcript	ENST00000325455.10	protein_coding	6/7			chr11	TogoVar
PHACTR1_chr6_12711767_13292837	13218853	AAAGAGAA others(18): Show AAAGAGAAGAGAAGAGAAGAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01261.hp2 HG02886.hp1 others(1): Show HG01192.hp2 HG01261.hp2 HG02886.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0002g0056 a0001c0001t0002g0071 others(1): Show a0001c0001t0001g0004 a0001c0001t0002g0056 a0001c0001t0002g0071 a0001c0001t0002g0073	4	11	0.3636	-25	c.987 others(42): Show c.987-8925_987-8901delGAGAAGAGAAGAGAAGAGAAGAGAA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr6	TogoVar

Search by Variant

Search

Search Results