Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PDGFD_chr11_103902189_104169147	104118809	AATATATT others(31): Show AATATATTATATATTATAAATATTAATATATAATATATT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02145.hp2 others(3): Show HG01891.hp2 HG02109.hp2 HG02145.hp2 HG06807.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0005	a0001c0001t0002g0109 a0001c0001t0003g0112 a0001c0002t0001g0106 others(3): Show a0001c0001t0002g0109 a0001c0001t0003g0112 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0005g0108 a0001c0002t0005g0188	6	200	0.0300	-38	c.124 others(57): Show c.124+44957_124+44994delAATATATTATATATTAATATTTATAA TATATAATATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDZD2_chr5_31634131_32115932	32003139	CACACACC others(31): Show CACACACCACACACCACCAACACACACACCACACACCAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01071.hp1 HG01081.hp1 others(12): Show HG00673.hp2 HG01071.hp1 HG01081.hp1 HG01433.hp1 HG01952.hp1 HG02135.hp2 HG02523.hp1 HG02683.hp1 HG03139.hp1 HG03831.hp1 HG04184.hp1 NA18979.hp1 NA18989.hp1 NA19009.hp2 NA19011.hp1	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0001 a0001c0022 a0002c0002 others(3): Show a0001c0001 a0001c0022 a0002c0002 a0002c0003 a0002c0011 a0016c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0037 a0001c0022t0001 a0002c0002t0001 a0002c0002t0006 a0002c0003t0002 a0002c0003t0005 a0002c0003t0020 a0002c0011t0002 a0016c0032t0001	a0001c0001t0001g0107 a0001c0001t0001g0162 a0001c0001t0002g0117 others(12): Show a0001c0001t0001g0107 a0001c0001t0001g0162 a0001c0001t0002g0117 a0001c0001t0003g0023 a0001c0001t0005g0010 a0001c0001t0008g0068 a0001c0001t0037g0154 a0001c0022t0001g0087 a0002c0002t0001g0120 a0002c0002t0006g0131 a0002c0003t0002g0092 a0002c0003t0005g0018 a0002c0003t0020g0033 a0002c0011t0002g0085 a0016c0032t0001g0048	15	216	0.0694	-38	c.125 others(57): Show c.1254+2873_1254+2910delACCACACACCACCAACACACACACCA CACACCATACAC	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	5/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD7_chr10_101002679_101036129	101017875	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02647.hp1 HG02896.hp1 others(3): Show HG00639.hp2 HG02647.hp1 HG02896.hp1 HG03130.hp1 HG03453.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0003c0003t0002 a0004c0004t0001 a0004c0004t0011	a0001c0001t0001g0390 a0001c0001t0003g0139 a0002c0002t0001g0083 others(3): Show a0001c0001t0001g0390 a0001c0001t0003g0139 a0002c0002t0001g0083 a0003c0003t0002g0029 a0004c0004t0001g0028 a0004c0004t0011g0135	6	432	0.0139	-38	c.152 others(55): Show c.1522+186_1522+223delTCTTTCTTTCTTTCTTTCTTTTCTTTCT TTCTTTCTTT	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZD8_chr10_117272274_117380440	117357765	CCAAAAAA others(31): Show CCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0075	1	322	0.0031	-38	c.872 others(57): Show c.872+16553_872+16590delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTG	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4			chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6206992	GATGGGTG others(31): Show GATGGGTGGCCAGGCAGAGACGCTCCTCACTTCCCAGAT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0014 a0002c0007t0014	a0002c0007t0014g0387 a0002c0007t0014g0387	1	432	0.0023	-38	c.76+ others(53): Show c.76+3657_76+3694delATGGGTGGCCAGGCAGAGACGCTCCTCACT TCCCAGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14			chr10	TogoVar
PFKL_chr21_44295053_44332373	44295836	AGGGCTGC others(31): Show AGGGCTGCCGGGCCTCGCAGCGCCAGTGTTCACCCGAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02896.hp2 HG02922.hp1 HG02630.hp1 HG02896.hp2 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0006 a0002c0003t0001g0067 a0002c0003t0001g0006 a0002c0003t0001g0067	3	392	0.0077	-38	c.-42 others(49): Show c.-4269_-4232delGGGCTGCCGGGCCTCGCAGCGCCAGTGTTCACCC GAGT	PFKL	ENSG00000141959.17	transcript	ENST00000349048.9	protein_coding		4216		chr21	TogoVar
PFKP_chr10_3062548_3141802	3079912	CGGGAGGC others(31): Show CGGGAGGCTCTGTCCTGCCAGGAATAAATGGAATCAGGT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18947.hp2 HG02004.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0006t0012 a0001c0001t0003 a0001c0006t0012	a0001c0001t0003g0131 a0001c0006t0012g0118 a0001c0001t0003g0131 a0001c0006t0012g0118	2	402	0.0050	-38	c.113 others(55): Show c.113-2456_113-2419delGGAATAAATGGAATCAGGTGGGAGGCTC TGTCCTGCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3079932	GGAATAAA others(31): Show GGAATAAATGGAATCAGGTGGGAGGCTCTGTCCTGCCAC	G G	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	402	0.0025	-38	c.113 others(55): Show c.113-2430_113-2393delTCTGTCCTGCCACGAATAAATGGAATCA GGTGGGAGGC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3087716	TGAGCCCA others(31): Show TGAGCCCAAATTTCCTCTCTGGCACCCTCCCCACCTGCC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0006 a0001c0014t0006	a0001c0014t0006g0353 a0001c0014t0006g0353	1	402	0.0025	-38	c.186 others(55): Show c.186+5256_186+5293delGAGCCCAAATTTCCTCTCTGGCACCCTC CCCACCTGCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21			chr10	TogoVar
PFKP_chr10_3062548_3141802	3123941	ACCTTGTG others(31): Show ACCTTGTGGTCACCCAGCACTGACCCCGTTCACAGCTCG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02738.hp1 NA18973.hp2 others(1): Show HG02135.hp2 HG02738.hp1 NA18973.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0021 a0001c0002 a0001c0005 a0001c0021	a0001c0002t0003 a0001c0002t0010 a0001c0005t0010 others(1): Show a0001c0002t0003 a0001c0002t0010 a0001c0005t0010 a0001c0021t0010	a0001c0002t0003g0155 a0001c0002t0010g0023 a0001c0005t0010g0192 others(1): Show a0001c0002t0003g0155 a0001c0002t0010g0023 a0001c0005t0010g0192 a0001c0021t0010g0206	4	402	0.0100	-38	c.168 others(57): Show c.1683+3923_1683+3960delCGTTCACAGCTCGCCTTGTGGTCACC CAGCACTGACCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGBD5_chr1_230309490_230431332	230316035	TAAGTATA others(31): Show TAAGTATATGTGTACACATATATGTATGTGTATACATAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG01070.hp1 HG01192.hp1 others(12): Show HG00741.hp1 HG01070.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01891.hp1 HG02109.hp1 HG02738.hp2 HG02809.hp2 HG02965.hp2 HG02970.hp2 HG03540.hp2 HG04228.hp1 NA18522.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0001t0040 a0001c0001t0067 others(5): Show a0001c0001t0024 a0001c0001t0040 a0001c0001t0067 a0001c0002t0016 a0001c0002t0035 a0001c0002t0047 a0001c0002t0092 a0001c0002t0106	a0001c0001t0024g0117 a0001c0001t0024g0118 a0001c0001t0024g0119 others(12): Show a0001c0001t0024g0117 a0001c0001t0024g0118 a0001c0001t0024g0119 a0001c0001t0040g0029 a0001c0001t0040g0129 a0001c0001t0067g0131 a0001c0002t0016g0046 a0001c0002t0016g0047 a0001c0002t0016g0048 a0001c0002t0016g0232 a0001c0002t0035g0149 a0001c0002t0035g0155 a0001c0002t0047g0005 a0001c0002t0092g0042 a0001c0002t0106g0196	15	288	0.0521	-38	c.73 others(49): Show c.7352_*7389delGTATGTATACACATACATATATGTGTACACATAT ACTT	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	7/7	7352		chr1	TogoVar
PGC_chr6_41731711_41752397	41738176	ATACATAT others(31): Show ATACATATATATATGCATATATATATGCATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG03486.hp1 others(1): Show HG02257.hp1 HG02451.hp1 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0170 a0001c0001t0001g0030 a0001c0001t0001g0170	4	464	0.0086	-38	c.916 others(53): Show c.916-386_916-349delCATATATATATGCATATATATATGCATATA TATATGTA	PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8			chr6	TogoVar
PGM1_chr1_63588411_63665245	63647256	TTACATAT others(31): Show TTACATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01081.hp1 HG01168.hp1 others(33): Show HG00438.hp2 HG01081.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG02080.hp2 HG02083.hp2 HG02451.hp1 HG02559.hp2 HG02818.hp2 HG02922.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18949.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA19010.hp2 NA19062.hp1 NA19070.hp1 NA19074.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0006 a0001c0008 others(3): Show a0001c0001 a0001c0006 a0001c0008 a0001c0017 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0006t0003 a0001c0008t0001 others(4): Show a0001c0001t0001 a0001c0006t0003 a0001c0008t0001 a0001c0017t0001 a0002c0002t0001 a0005c0005t0001 a0005c0005t0003	a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0027 others(31): Show a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0178 a0001c0001t0001g0256 a0001c0001t0001g0287 a0001c0001t0001g0310 a0001c0001t0001g0324 a0001c0001t0001g0352 a0001c0001t0001g0360 a0001c0006t0003g0170 a0001c0006t0003g0346 a0001c0008t0001g0001 a0001c0008t0001g0103 a0001c0008t0001g0338 a0001c0008t0001g0339 a0001c0017t0001g0345 a0002c0002t0001g0101 a0002c0002t0001g0116 a0002c0002t0001g0221 a0002c0002t0001g0232 a0002c0002t0001g0341 a0005c0005t0001g0171 a0005c0005t0001g0344 a0005c0005t0003g0044	36	366	0.0984	-38	c.114 others(57): Show c.1145-1258_1145-1221delCATATATATATATATATATATATATA TATATATATATA	PGM1	ENSG00000079739.17	transcript	ENST00000371084.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
PGM1_chr1_63588411_63665245	63663790	TTTTATCT others(31): Show TTTTATCTCCCACTGCTACAAAATTAATTGGGAGGTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0057 a0011c0016t0001g0057	1	366	0.0027	-38	c.41 others(49): Show c.4116_*4153delTTTATCTCCCACTGCTACAAAATTAATTGGGAGG TATA	PGM1	ENSG00000079739.17	transcript	ENST00000371084.8	protein_coding		3546		chr1	TogoVar
PGM2L1_chr11_74325316_74403433	74369366	GAAATTTG others(31): Show GAAATTTGAATTAAACATAAATGGAGTTATAGAAAAAAT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp1 HG02258.hp1 others(23): Show HG00639.hp2 HG02109.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0004 a0003c0006 a0006c0014 a0001c0004 a0003c0006 a0006c0014	a0001c0004t0009 a0001c0004t0013 a0001c0004t0016 others(8): Show a0001c0004t0009 a0001c0004t0013 a0001c0004t0016 a0001c0004t0023 a0001c0004t0024 a0001c0004t0045 a0001c0004t0058 a0001c0004t0059 a0003c0006t0013 a0003c0006t0047 a0006c0014t0016	a0001c0004t0009g0334 a0001c0004t0009g0335 a0001c0004t0009g0336 others(23): Show a0001c0004t0009g0334 a0001c0004t0009g0335 a0001c0004t0009g0336 a0001c0004t0009g0337 a0001c0004t0009g0338 a0001c0004t0009g0339 a0001c0004t0009g0340 a0001c0004t0009g0341 a0001c0004t0009g0342 a0001c0004t0013g0105 a0001c0004t0013g0107 a0001c0004t0013g0108 a0001c0004t0013g0109 a0001c0004t0016g0262 a0001c0004t0016g0263 a0001c0004t0016g0264 a0001c0004t0023g0095 a0001c0004t0023g0348 a0001c0004t0024g0106 a0001c0004t0024g0261 a0001c0004t0045g0349 a0001c0004t0058g0358 a0001c0004t0059g0364 a0003c0006t0013g0094 a0003c0006t0047g0023 a0006c0014t0016g0257	26	380	0.0684	-38	c.472 others(53): Show c.472-829_472-792delATTTTTTCTATAACTCCATTTATGTTTAAT TCAAATTT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	4/13			chr11	TogoVar
PGM5_chr9_68351611_68536061	68406660	GTATATAT others(31): Show GTATATATATATATATATGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 NA18951.hp1 HG00738.hp2 HG00741.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0001t0001 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0146 a0001c0001t0004g0191 a0001c0002t0002g0062 a0001c0001t0001g0146 a0001c0001t0004g0191 a0001c0002t0002g0062	3	246	0.0122	-38	c.104 others(59): Show c.1043+14205_1043+14242delGTATATATATATATATATATATAT ATATATATATATAT	PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHACTR1_chr6_12711767_13292837	13064580	ATATATAT others(31): Show ATATATATATATATATATATATATATCTATATATCTATC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01496.hp2 HG03209.hp2 others(1): Show HG01255.hp2 HG01496.hp2 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0062 a0001c0001t0002g0079 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0062 a0001c0001t0002g0079 a0001c0001t0002g0085	4	108	0.0370	-38	c.415 others(57): Show c.415+11055_415+11092delATATATATATATATATATATATCTAT ATATCTATCTAT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59618712	AAGAGGTG others(31): Show AAGAGGTGCTGTCTCACCCTGAGCAGGGCCGAGAGCCTG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp1 HG03209.hp2 others(2): Show HG02922.hp1 HG02965.hp1 HG03209.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0127 a0001c0001t0003g0128 others(2): Show a0001c0001t0003g0044 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130	5	250	0.0200	-38	c.118 others(57): Show c.118+13685_118+13722delCGAGAGCCTGAGAGGTGCTGTCTCAC CCTGAGCAGGGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59785861	GCTTCTGC others(31): Show GCTTCTGCATCCCCTACTTCATTTTGTTTTCCAACGGCC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03486.hp2 HG02258.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0197 a0001c0001t0011g0066 a0001c0001t0004g0197 a0001c0001t0011g0066	2	250	0.0080	-38	c.117 others(59): Show c.1174+11374_1174+11411delTCTGCATCCCCTACTTCATTTTGT TTTCCAACGGCCCT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHRF1_chr11_571470_617222	576745	GCTGGGAG others(31): Show GCTGGGAGGCCCCGCCGAGACTGGGAGGCCCCGCCGAGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp2 others(48): Show HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG01069.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG02056.hp1 HG02145.hp1 HG02273.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG03041.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18941.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18963.hp1 NA18967.hp1 NA18969.hp2 NA18974.hp1 NA18985.hp1 NA19010.hp2 NA19063.hp1 NA19068.hp1 NA19081.hp2 NA19087.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0019 a0020 a0025	a0001c0001 a0001c0009 a0002c0002 others(8): Show a0001c0001 a0001c0009 a0002c0002 a0003c0004 a0005c0007 a0006c0008 a0008c0013 a0009c0012 a0019c0030 a0020c0032 a0025c0038	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0009t0002 a0002c0002t0001 a0003c0004t0003 a0005c0007t0001 a0006c0008t0004 a0008c0013t0002 a0009c0012t0003 a0019c0030t0001 a0020c0032t0001 a0025c0038t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(46): Show a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0006g0212 a0001c0001t0007g0196 a0001c0001t0007g0201 a0001c0009t0002g0183 a0002c0002t0001g0002 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0003c0004t0003g0174 a0003c0004t0003g0175 a0003c0004t0003g0177 a0003c0004t0003g0190 a0005c0007t0001g0179 a0005c0007t0001g0180 a0006c0008t0004g0178 a0008c0013t0002g0184 a0009c0012t0003g0176 a0019c0030t0001g0182 a0020c0032t0001g0167 a0025c0038t0001g0181	51	279	0.1828	-38	c.-22 others(53): Show c.-22+298_-22+335delCGCCGAGACTGGGAGGCCCCGCCGAGACTG GGAGGCCC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PI4K2A_chr10_97635671_97681434	97678880	GGTGTGTG others(31): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	350	0.0029	-38	c.51 others(49): Show c.5139_*5176delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2447		chr10	TogoVar
PI4K2B_chr4_25229033_25284204	25249380	GGGGTGGC others(31): Show GGGGTGGCCGGGCAGAGGCGCCCCTCCACCCCCCGGACA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01081.hp2 others(9): Show HG00642.hp2 HG00733.hp2 HG01081.hp2 HG01099.hp1 HG01256.hp2 HG01358.hp2 HG01496.hp2 HG02735.hp1 HG03017.hp1 HG03490.hp1 HG04228.hp2 NA20805.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0015 a0003c0004t0002 a0003c0004t0015	a0003c0004t0002g0030 a0003c0004t0002g0031 a0003c0004t0002g0181 others(8): Show a0003c0004t0002g0030 a0003c0004t0002g0031 a0003c0004t0002g0181 a0003c0004t0002g0183 a0003c0004t0002g0184 a0003c0004t0002g0185 a0003c0004t0002g0193 a0003c0004t0002g0197 a0003c0004t0002g0198 a0003c0004t0015g0030 a0003c0004t0015g0214	12	436	0.0275	-38	c.269 others(55): Show c.269-2937_269-2900delTGGCCGGGCAGAGGCGCCCCTCCACCCC CCGGACAGGG	PI4K2B	ENSG00000038210.14	transcript	ENST00000264864.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
PIBF1_chr13_72777133_73021461	73009675	GAACATAT others(31): Show GAACATATCTTAGTCCTATGGGAACAGACTTTGAAATTA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0185 a0002c0002t0003g0185	1	346	0.0029	-38	c.222 others(57): Show c.2224-6191_2224-6154delCATATCTTAGTCCTATGGGAACAGAC TTTGAAATTAAA	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PID1_chr2_229018973_229276287	229139035	GAAAGAGA others(31): Show GAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	256	0.0039	-38	c.177 others(57): Show c.177+16745_177+16782delTTCTTTCTTTCTTTCTCTTTCTTTCT TTCTTTCTCTTT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PIEZO1_chr16_88710338_88790220	88753237	AGCCCCCC others(31): Show AGCCCCCCCAGAGCGCACCCAGCCCCCCAGAGCTCACCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG00642.hp1 others(68): Show HG00099.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01123.hp1 HG01169.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02896.hp1 HG03041.hp2 HG03098.hp1 HG03492.hp1 HG03540.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18954.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18983.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19064.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(26): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011 a0013 a0015 a0016 a0019 a0027 a0028 a0031 a0032 a0039 a0049 a0051 a0052 a0053 a0059 a0064 a0068 a0072 a0076 a0078 a0082 a0085 a0088	a0001c0001 a0001c0002 a0001c0007 others(42): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0001c0033 a0001c0048 a0002c0003 a0002c0006 a0002c0016 a0002c0018 a0002c0027 a0002c0031 a0002c0082 a0002c0125 a0003c0005 a0003c0017 a0003c0030 a0004c0020 a0004c0111 a0005c0015 a0009c0036 a0011c0155 a0013c0012 a0015c0067 a0016c0019 a0019c0151 a0019c0152 a0027c0046 a0028c0032 a0031c0110 a0032c0034 a0039c0150 a0049c0143 a0051c0123 a0052c0061 a0053c0060 a0059c0103 a0064c0096 a0068c0047 a0072c0132 a0076c0117 a0078c0114 a0082c0113 a0085c0124 a0088c0073	a0001c0001t0001 a0001c0001t0021 a0001c0002t0001 others(47): Show a0001c0001t0001 a0001c0001t0021 a0001c0002t0001 a0001c0007t0001 a0001c0008t0001 a0001c0008t0025 a0001c0033t0001 a0001c0048t0001 a0002c0003t0001 a0002c0006t0001 a0002c0016t0001 a0002c0018t0001 a0002c0027t0011 a0002c0031t0001 a0002c0082t0001 a0002c0125t0001 a0003c0005t0001 a0003c0017t0002 a0003c0030t0001 a0003c0030t0002 a0004c0020t0001 a0004c0020t0003 a0004c0111t0001 a0005c0015t0001 a0009c0036t0001 a0011c0155t0001 a0013c0012t0001 a0015c0067t0001 a0016c0019t0002 a0016c0019t0006 a0019c0151t0001 a0019c0152t0001 a0027c0046t0001 a0028c0032t0001 a0031c0110t0001 a0032c0034t0019 a0039c0150t0001 a0049c0143t0001 a0051c0123t0001 a0052c0061t0001 a0053c0060t0001 a0059c0103t0001 a0064c0096t0002 a0068c0047t0001 a0072c0132t0001 a0076c0117t0002 a0078c0114t0001 a0082c0113t0001 a0085c0124t0001 a0088c0073t0001	a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0200 others(68): Show a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0021g0256 a0001c0002t0001g0035 a0001c0007t0001g0034 a0001c0008t0001g0121 a0001c0008t0025g0282 a0001c0033t0001g0264 a0001c0033t0001g0265 a0001c0048t0001g0108 a0002c0003t0001g0075 a0002c0006t0001g0157 a0002c0006t0001g0227 a0002c0006t0001g0245 a0002c0016t0001g0260 a0002c0016t0001g0261 a0002c0016t0001g0262 a0002c0018t0001g0243 a0002c0027t0011g0198 a0002c0027t0011g0199 a0002c0031t0001g0244 a0002c0082t0001g0230 a0002c0125t0001g0241 a0003c0005t0001g0228 a0003c0017t0002g0120 a0003c0017t0002g0236 a0003c0030t0001g0203 a0003c0030t0002g0136 a0004c0020t0001g0189 a0004c0020t0003g0006 a0004c0111t0001g0153 a0005c0015t0001g0048 a0009c0036t0001g0237 a0011c0155t0001g0202 a0013c0012t0001g0231 a0013c0012t0001g0232 a0015c0067t0001g0107 a0016c0019t0002g0178 a0016c0019t0002g0179 a0016c0019t0006g0018 a0019c0151t0001g0155 a0019c0152t0001g0154 a0027c0046t0001g0055 a0028c0032t0001g0235 a0028c0032t0001g0238 a0031c0110t0001g0169 a0032c0034t0019g0192 a0039c0150t0001g0156 a0049c0143t0001g0246 a0051c0123t0001g0263 a0052c0061t0001g0103 a0053c0060t0001g0039 a0059c0103t0001g0253 a0064c0096t0002g0131 a0068c0047t0001g0095 a0072c0132t0001g0122 a0076c0117t0002g0177 a0078c0114t0001g0233 a0082c0113t0001g0223 a0085c0124t0001g0190 a0088c0073t0001g0218	71	282	0.2518	-38	c.65- others(53): Show c.65-3796_65-3759delGGGTGAGCTCTGGGGGGCTGGGTGCGCTCT GGGGGGGC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	1/50			chr16	TogoVar
PIEZO2_chr18_10665247_11154569	10720399	GTGTGTAT others(31): Show GTGTGTATGTGTATGTGTATGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp1 HG01169.hp1 others(17): Show HG00609.hp1 HG00741.hp1 HG01169.hp1 HG01943.hp2 HG01981.hp2 HG02040.hp1 HG02056.hp1 HG02109.hp1 HG02615.hp1 HG02622.hp1 HG03017.hp2 HG03471.hp1 HG03540.hp2 NA18950.hp2 NA18957.hp1 NA18970.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0012 a0015 a0019 a0027	a0001c0024 a0001c0058 a0001c0087 others(14): Show a0001c0024 a0001c0058 a0001c0087 a0001c0088 a0002c0001 a0003c0011 a0004c0005 a0004c0022 a0005c0008 a0005c0013 a0005c0046 a0005c0056 a0012c0064 a0012c0078 a0015c0025 a0019c0029 a0027c0081	a0001c0024t0001 a0001c0058t0001 a0001c0087t0001 others(15): Show a0001c0024t0001 a0001c0058t0001 a0001c0087t0001 a0001c0088t0001 a0002c0001t0002 a0003c0011t0001 a0004c0005t0002 a0004c0022t0002 a0005c0008t0001 a0005c0013t0001 a0005c0013t0002 a0005c0046t0001 a0005c0056t0001 a0012c0064t0002 a0012c0078t0002 a0015c0025t0001 a0019c0029t0002 a0027c0081t0002	a0001c0024t0001g0156 a0001c0058t0001g0150 a0001c0087t0001g0033 others(17): Show a0001c0024t0001g0156 a0001c0058t0001g0150 a0001c0087t0001g0033 a0001c0088t0001g0130 a0002c0001t0002g0039 a0003c0011t0001g0034 a0004c0005t0002g0080 a0004c0022t0002g0085 a0005c0008t0001g0027 a0005c0008t0001g0157 a0005c0013t0001g0022 a0005c0013t0002g0010 a0005c0046t0001g0129 a0005c0056t0001g0061 a0012c0064t0002g0059 a0012c0078t0002g0141 a0015c0025t0001g0050 a0015c0025t0001g0082 a0019c0029t0002g0116 a0027c0081t0002g0095	20	158	0.1266	-38	c.503 others(57): Show c.5030-2178_5030-2141delTATATATATATATATATACATACACA TACACATACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10720409	GTATGTGT others(31): Show GTATGTGTATGTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00609.hp2 others(19): Show HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00741.hp2 HG01167.hp1 HG01884.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02129.hp1 HG02257.hp1 HG02647.hp2 HG02896.hp2 HG02976.hp1 HG03492.hp1 HG03540.hp1 NA18962.hp1 NA18970.hp2 NA19005.hp2 NA19011.hp2 NA19043.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0008 a0021 a0026	a0001c0006 a0001c0007 a0002c0001 others(11): Show a0001c0006 a0001c0007 a0002c0001 a0002c0015 a0002c0055 a0002c0069 a0002c0074 a0003c0009 a0004c0005 a0006c0004 a0008c0054 a0008c0070 a0021c0031 a0026c0061	a0001c0006t0001 a0001c0007t0001 a0002c0001t0001 others(12): Show a0001c0006t0001 a0001c0007t0001 a0002c0001t0001 a0002c0001t0005 a0002c0015t0002 a0002c0055t0002 a0002c0069t0001 a0002c0074t0001 a0003c0009t0001 a0004c0005t0002 a0006c0004t0003 a0008c0054t0001 a0008c0070t0002 a0021c0031t0001 a0026c0061t0008	a0001c0006t0001g0099 a0001c0006t0001g0138 a0001c0007t0001g0113 others(19): Show a0001c0006t0001g0099 a0001c0006t0001g0138 a0001c0007t0001g0113 a0002c0001t0001g0011 a0002c0001t0001g0055 a0002c0001t0001g0117 a0002c0001t0001g0135 a0002c0001t0001g0139 a0002c0001t0001g0158 a0002c0001t0005g0094 a0002c0015t0002g0145 a0002c0055t0002g0140 a0002c0069t0001g0136 a0002c0074t0001g0028 a0003c0009t0001g0052 a0003c0009t0001g0083 a0004c0005t0002g0006 a0006c0004t0003g0149 a0008c0054t0001g0077 a0008c0070t0002g0127 a0021c0031t0001g0066 a0026c0061t0008g0109	22	158	0.1392	-38	c.503 others(57): Show c.5030-2188_5030-2151delTATATATATATATATATATATATATA TACATACACATA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10795314	ATATTTTA others(31): Show ATATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02129.hp1 HG02129.hp2 others(11): Show HG01106.hp1 HG02129.hp1 HG02129.hp2 HG02257.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp2 HG03017.hp1 HG03710.hp1 NA18957.hp2 NA18970.hp2 NA18994.hp2 NA18998.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0007 a0008 a0020	a0001c0002 a0001c0006 a0002c0001 others(8): Show a0001c0002 a0001c0006 a0002c0001 a0002c0023 a0004c0005 a0004c0022 a0006c0004 a0006c0077 a0007c0086 a0008c0070 a0020c0066	a0001c0002t0001 a0001c0006t0001 a0002c0001t0001 others(9): Show a0001c0002t0001 a0001c0006t0001 a0002c0001t0001 a0002c0001t0005 a0002c0023t0001 a0004c0005t0001 a0004c0022t0002 a0006c0004t0003 a0006c0077t0006 a0007c0086t0001 a0008c0070t0002 a0020c0066t0002	a0001c0002t0001g0108 a0001c0006t0001g0148 a0002c0001t0001g0057 others(11): Show a0001c0002t0001g0108 a0001c0006t0001g0148 a0002c0001t0001g0057 a0002c0001t0001g0117 a0002c0001t0001g0135 a0002c0001t0005g0008 a0002c0023t0001g0021 a0004c0005t0001g0137 a0004c0022t0002g0042 a0006c0004t0003g0084 a0006c0077t0006g0001 a0007c0086t0001g0009 a0008c0070t0002g0127 a0020c0066t0002g0119	14	158	0.0886	-38	c.152 others(55): Show c.1528-350_1528-313delATAAAATAAAATAAAATAAAATAAAATA AAATAAAATA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	12/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10880846	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0007 a0001c0024t0007	a0001c0024t0007g0002 a0001c0024t0007g0002	1	158	0.0063	-38	c.330 others(55): Show c.330-9469_330-9432delATATATATATATATATATATATATATAT ATATATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIGK_chr1_77083989_77224430	77189712	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	366	0.0027	-38	c.239 others(57): Show c.239+16890_239+16927delGTATATATATATATATATATATATAT ATATATATATAT	PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding	3/10			chr1	TogoVar
PIGU_chr20_34555542_34682092	34631765	ATATATAT others(31): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03098.hp1 HG02572.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0018 a0001c0001t0001g0034	2	320	0.0063	-38	c.529 others(55): Show c.529+2812_529+2849delAAAAAAAAAAAAAAAAAATATATATATA TATATATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIGX_chr3_196707377_196741007	196732240	ATATATAT others(31): Show ATATATATATATATATATTTTATTTTATTTTATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02897.hp1 HG03540.hp1 HG02451.hp1 HG02897.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0056 a0001c0001t0018 a0001c0001t0056	a0001c0001t0018g0284 a0001c0001t0018g0296 a0001c0001t0056g0145 a0001c0001t0018g0284 a0001c0001t0018g0296 a0001c0001t0056g0145	3	416	0.0072	-38	c.633 others(55): Show c.633+1150_633+1187delATATATATATATATATTTTATTTTATTT TATTTTTTTT	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PIGX_chr3_196707377_196741007	196732242	ATATATAT others(31): Show ATATATATATATATATTTTATTTTATTTTATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0282 a0001c0001t0018g0282	1	416	0.0024	-38	c.633 others(55): Show c.633+1152_633+1189delATATATATATATATTTTATTTTATTTTA TTTTTTTTTT	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PIK3C2A_chr11_17081575_17212986	17181603	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00738.hp2 HG01109.hp2 others(23): Show HG00621.hp2 HG00738.hp2 HG01109.hp2 HG01928.hp1 HG02004.hp2 HG02165.hp2 HG02602.hp2 NA18941.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp2 NA18979.hp2 NA18984.hp1 NA18986.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19067.hp1 NA19074.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0020	a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 a0001c0020t0002	a0001c0001t0002g0154 a0001c0002t0001g0205 a0001c0002t0001g0229 others(23): Show a0001c0001t0002g0154 a0001c0002t0001g0205 a0001c0002t0001g0229 a0001c0002t0001g0239 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0279 a0001c0002t0001g0299 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0005t0001g0012 a0001c0005t0001g0227 a0001c0005t0001g0266 a0001c0020t0002g0010	26	342	0.0760	-38	c.-65 others(57): Show c.-65-11835_-65-11798delATATATATATATATATATATATATAT ATATATATATAT	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PIK3C2G_chr12_18256518_18653416	18650686	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTATATATCTATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0001 a0013c0025t0001	a0013c0025t0001g0102 a0013c0025t0001g0102	1	176	0.0057	-38	c.26 others(49): Show c.2659_*2696delTGTGTGTGTGTGTGTGTGTATATATCTATATATA TATA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding		2271		chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18650698	GTGTGTGT others(31): Show GTGTGTGTATATATCTATATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03139.hp1 HG03130.hp1 HG03139.hp1	a0002 a0004 a0002 a0004	a0002c0009 a0004c0012 a0002c0009 a0004c0012	a0002c0009t0002 a0004c0012t0002 a0002c0009t0002 a0004c0012t0002	a0002c0009t0002g0019 a0004c0012t0002g0136 a0002c0009t0002g0019 a0004c0012t0002g0136	2	176	0.0114	-38	c.26 others(49): Show c.2671_*2708delTGTGTGTATATATCTATATATATATATATATATA TATA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding		2283		chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18650704	GTATATAT others(31): Show GTATATATCTATATATATATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	176	0.0057	-38	c.26 others(49): Show c.2677_*2714delTATATATCTATATATATATATATATATATATATA TATA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding		2289		chr12	TogoVar
PIK3C3_chr18_41950234_42092830	42054126	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0127 a0001c0001t0047g0127	1	340	0.0029	-38	c.226 others(57): Show c.2264-3728_2264-3691delTATATATATATATATATATATATATA TATATATATATA	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIK3C3_chr18_41950234_42092830	42076107	TATATATA others(31): Show TATATATATATATATGCGCATATATATATATATATATGC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp1 HG02258.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0036 a0001c0001t0020 a0001c0001t0036	a0001c0001t0020g0002 a0001c0001t0036g0002 a0001c0001t0020g0002 a0001c0001t0036g0002	2	340	0.0059	-38	c.265 others(57): Show c.2650-5015_2650-4978delATATATATATATATGCGCATATATAT ATATATATATGC	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	24/24			chr18	TogoVar
PIK3CB_chr3_138647698_138839928	138747054	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0041 a0001c0001t0017g0041	1	206	0.0049	-38	c.398 others(55): Show c.398-4311_398-4274delTATATATATATATATATATATATATATA TATATATATA	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	4/23			chr3	TogoVar
PIP5K1B_chr9_68700240_69014176	68880556	AACACACA others(31): Show AACACACACACACACACACACACACACACACACGCATAC	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01496.hp2 HG02083.hp2 others(10): Show HG01346.hp2 HG01496.hp2 HG02083.hp2 HG02132.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03516.hp1 HG03669.hp1 NA18950.hp1 NA18954.hp2 NA18984.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0003c0006t0001 a0003c0006t0002	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0002g0161 others(10): Show a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0002g0161 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0216 a0001c0001t0003g0133 a0001c0002t0001g0052 a0001c0002t0003g0136 a0003c0006t0001g0017 a0003c0006t0002g0167	13	220	0.0591	-38	c.318 others(55): Show c.318+3785_318+3822delACACACACACGCATACACACACACACAC ACACACACAC	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PJA2_chr5_109329722_109414974	109338338	CCGTTTAA others(31): Show CCGTTTAAGAATCCATTTCAGGCCAGGCACGGTGGCTCA	C C	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0058 a0003c0003t0002g0058	1	346	0.0029	-38	c.200 others(56): Show c.2002-1020_2002-983delTGAGCCACCGTGCCTGGCCTGAAATGG ATTCTTAAACG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109340090	GTTTACTG others(31): Show GTTTACTGAAGACTGCTAGCTGGTCTTTGTAACTTGCAC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0021 a0003c0003t0021	a0003c0003t0021g0074 a0003c0003t0021g0074	1	346	0.0029	-38	c.200 others(57): Show c.2002-2772_2002-2735delGTGCAAGTTACAAAGACCAGCTAGCA GTCTTCAGTAAA	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109354499	CATAGATA others(31): Show CATAGATATCTATATCGATATTAGATATCTATAATATCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00639.hp1 others(93): Show HG00438.hp2 HG00544.hp2 HG00639.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01243.hp2 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG02015.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03704.hp1 HG03834.hp1 HG04228.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18968.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18981.hp2 NA18984.hp1 NA18987.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19007.hp1 NA19009.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19084.hp1 NA19088.hp1 NA19089.hp2 NA19240.hp1 NA21309.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0004 a0004c0005 others(1): Show a0001c0001 a0001c0004 a0004c0005 a0005c0009	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0004t0001 a0004c0005t0001 a0005c0009t0001	a0001c0001t0001g0010 a0001c0001t0001g0194 a0001c0001t0001g0195 others(93): Show a0001c0001t0001g0010 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0289 a0001c0001t0001g0326 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0009g0263 a0001c0001t0009g0264 a0001c0001t0010g0238 a0001c0001t0010g0239 a0001c0001t0014g0237 a0001c0001t0015g0236 a0001c0001t0017g0226 a0001c0001t0019g0327 a0001c0004t0001g0180 a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0001g0184 a0001c0004t0001g0185 a0001c0004t0001g0186 a0001c0004t0001g0187 a0001c0004t0001g0188 a0001c0004t0001g0189 a0001c0004t0001g0190 a0004c0005t0001g0040 a0004c0005t0001g0041 a0004c0005t0001g0042 a0004c0005t0001g0043 a0004c0005t0001g0045 a0004c0005t0001g0294 a0005c0009t0001g0200	96	346	0.2775	-38	c.176 others(57): Show c.1764+1378_1764+1415delAGATATTATAGATATCTAATATCGAT ATAGATATCTAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKD1L3_chr16_71924538_72005402	71943082	TGTCTTTT others(31): Show TGTCTTTTTCATTTTTCCTAAGTCTATAGACTTATGCAG	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0106 a0004c0009t0001g0106	1	308	0.0033	-38	c.386 others(53): Show c.3860-96_3860-59delCTGCATAAGTCTATAGACTTAGGAAAAATG AAAAAGAC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	23/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71945293	TATATATA others(31): Show TATATATATATATACACACACACACACACATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18942.hp2 HG03710.hp1 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0044 a0002c0002 a0002c0044	a0002c0002t0001 a0002c0044t0001 a0002c0002t0001 a0002c0044t0001	a0002c0002t0001g0104 a0002c0044t0001g0089 a0002c0002t0001g0104 a0002c0044t0001g0089	2	308	0.0065	-38	c.371 others(57): Show c.3719-1161_3719-1124delGTGTATATATGTGTGTGTGTGTGTGT ATATATATATAT	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100315001	AGGAAGGA others(31): Show AGGAAGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG04204.hp2 NA18966.hp2 others(2): Show HG00408.hp2 HG04204.hp2 NA18966.hp2 NA19000.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0097 a0001c0001t0001g0125 a0001c0001t0001g0139 others(2): Show a0001c0001t0001g0097 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0254 a0001c0002t0001g0037	5	306	0.0163	-38	c.349 others(57): Show c.349+14172_349+14209delCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCTTCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKM_chr15_72194029_72236190	72209421	ATATATAT others(31): Show ATATATATATATATATATATGTATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02109.hp1 HG02155.hp1 others(7): Show HG02056.hp1 HG02109.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp2 HG02572.hp1 HG02738.hp1 NA18985.hp2 NA18989.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0115 a0001c0001t0001g0119 others(7): Show a0001c0001t0001g0082 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0273 a0001c0001t0001g0284	10	370	0.0270	-38	c.565 others(53): Show c.565+214_565+251delCATATATATATATATATACATATATATATA TATATATA	PKM	ENSG00000067225.21	transcript	ENST00000335181.10	protein_coding	5/10			chr15	TogoVar
PKM_chr15_72194029_72236190	72228404	GTCTCGCT others(31): Show GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	370	0.0027	-38	c.-14 others(55): Show c.-14+2674_-14+2711delTCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGA	PKM	ENSG00000067225.21	transcript	ENST00000335181.10	protein_coding	1/10			chr15	TogoVar
PKN2_chr1_88679273_88841255	88820180	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0017 a0001c0004t0006g0017	1	330	0.0030	-38	c.228 others(57): Show c.2280-1744_2280-1707delTATATATATATATATATATATATATA TATATATATATA	PKN2	ENSG00000065243.20	transcript	ENST00000370521.8	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 2603 hits)