Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

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
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	334	0.0030	50	c.313 others(67): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PEAK1_chr15_77103158_77425104	77303036	G G	GATCTCTC others(43): Show GATCTCTCTAACTTGGCAATGTGCATTTTTAAGATTCATCCATGTCTTTT C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0022 a0003c0003t0022	a0003c0003t0022g0177 a0003c0003t0022g0177	1	326	0.0031	50	c.-60 others(71): Show c.-602-16582_-602-16533dupGAAAAGACATGGATGAATCTTAAA AATGCACATTGCCAAGTTAGAGAGAT	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEBP4_chr8_22708251_22932914	22751603	T T	TGTGTGTG others(43): Show TGTGTGTGTCTGTGTTGCTGAAACAGGAGGCTTTGACTTGGATAAGGAGG A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0006 a0006	a0006c0033 a0006c0033	a0006c0033t0008 a0006c0033t0008	a0006c0033t0008g0026 a0006c0033t0008g0026	1	278	0.0036	50	c.358 others(69): Show c.358-24384_358-24383insTCCTCCTTATCCAAGTCAAAGCCTCC TGTTTCAGCAACACAGACACACAC	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEX5_chr12_7184686_7216459	7197238	A A	ATGTAATT others(43): Show ATGTAATTATATATGTCATATATAATGTAATTATATATGTCATATATAAT G	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	428	0.0023	50	c.449 others(67): Show c.449-1772_449-1771insGTAATTATATATGTCATATATAATGTAA TTATATATGTCATATATAATGT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197316	T T	TTATATAT others(43): Show TTATATATGTCATATATAATGTAATAATTATATATGTCATATAATGTAAT C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18997.hp1 NA19070.hp2 others(1): Show NA18747.hp2 NA18997.hp1 NA19070.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0182 a0001c0001t0003g0210 a0001c0001t0003g0030 a0001c0001t0003g0182 a0001c0001t0003g0210	4	428	0.0094	50	c.449 others(67): Show c.449-1695_449-1694insTATATATGTCATATATAATGTAATAATT ATATATGTCATATAATGTAATC	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15			chr12	TogoVar
PEX5_chr12_7184686_7216459	7197365	T T	TTATATAT others(43): Show TTATATATGTCATATACAATGTAATAATTATATATGTCATATACAATGTA A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0204 a0001c0001t0017g0204	1	428	0.0023	50	c.449 others(67): Show c.449-1612_449-1611insGTCATATACAATGTAATATATATGTCAT ATACAATGTAATAATTATATAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197365	T T	TTATATAT others(43): Show TTATATATGTCATATACGATGTAATAATTATATATGTCATATACAATGTA A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01884.hp1 others(13): Show HG01167.hp1 HG01169.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02257.hp1 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02818.hp1 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0004 a0001c0001t0004 a0002c0002t0004	a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 others(10): Show a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0211 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0224 a0001c0001t0004g0298 a0002c0002t0004g0326	16	428	0.0374	50	c.449 others(67): Show c.449-1630_449-1629insGATGTAATAATTATATATGTCATATACA ATGTAATATATATGTCATATAC	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKFB3_chr10_6197932_6240532	6206548	A A	ACCTCACG others(43): Show ACCTCACGGACGGGGCGGCTGGCCGGGTGGGGGTGCTGACCCCCCCACCT C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0345 a0001c0001t0024g0345	1	432	0.0023	50	c.76+ others(65): Show c.76+3216_76+3217insACGGACGGGGCGGCTGGCCGGGTGGGGGTG CTGACCCCCCCACCTCCCTC	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210533	T T	TGTGTTTT others(43): Show TGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0028 a0001c0001t0029g0028	1	432	0.0023	50	c.77- others(65): Show c.77-2763_77-2714dupATGTTAGCCAGGATAGTCTTGATAGTGTTT TTAATAGACGGGGTTTCGCC	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210533	T T	TGTGTTTT others(43): Show TGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGAT A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0410 a0001c0003t0019g0410	1	432	0.0023	50	c.77- others(65): Show c.77-3050_77-3049insGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210574	A A	AGTCTTGA others(43): Show AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT G	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	432	0.0023	50	c.77- others(65): Show c.77-3000_77-2999insGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3084854	C C	CCCAGCAC others(43): Show CCCAGCACGGTCCCCCACTCCACTCTCCAGCACGGTCCCCCACTCCACTC T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02738.hp1 others(2): Show HG01070.hp2 HG01071.hp2 HG02738.hp1 HG03834.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0019 a0001c0001 a0001c0005 a0001c0019	a0001c0001t0002 a0001c0005t0010 a0001c0019t0004 a0001c0001t0002 a0001c0005t0010 a0001c0019t0004	a0001c0001t0002g0191 a0001c0001t0002g0266 a0001c0005t0010g0192 others(2): Show a0001c0001t0002g0191 a0001c0001t0002g0266 a0001c0005t0010g0192 a0001c0019t0004g0083 a0001c0019t0004g0084	5	402	0.0124	50	c.186 others(67): Show c.186+2410_186+2459dupCTCCACTCTCCAGCACGGTCCCCCACTC CACTCTCCAGCACGGTCCCCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085080	G G	GGGTCCCC others(43): Show GGGTCCCCCACTCCCTCCCCAGCACAGTCCCCCCACTCCCTCCCCAGCAC A	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0320 a0001c0001t0003g0320	1	402	0.0025	50	c.186 others(67): Show c.186+2620_186+2621insGTCCCCCACTCCCTCCCCAGCACAGTCC CCCCACTCCCTCCCCAGCACAG	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085208	T T	TCACCCCC others(43): Show TCACCCCCTCCCCAGCACAGTCCCCCCACCCCCTCCCCAGCACAGTCCCC C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0303	1	402	0.0025	50	c.186 others(67): Show c.186+2772_186+2773insCACCCCCTCCCCAGCACAGTCCCCCCAC CCCCTCCCCAGCACAGTCCCCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085811	C C	CTGTCCTC others(43): Show CTGTCCTCCACCCTGGGCCAAAGCACTGTCCTCCACCCTGGGCCAAAGCA T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(76): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01257.hp2 HG01261.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02735.hp1 HG02735.hp2 HG02965.hp1 HG03017.hp1 HG03491.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18962.hp2 NA18968.hp1 NA18971.hp1 NA18973.hp1 NA18981.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19002.hp2 NA19010.hp2 NA19012.hp2 NA19057.hp2 NA19058.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA19082.hp2 NA19087.hp1 NA19240.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0014 a0001c0019 a0001c0020 a0001c0022 a0001c0027 a0001c0029 a0001c0037 a0001c0038 a0001c0046 a0001c0057 a0001c0067 a0002c0013 a0006c0035	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(29): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0003t0001 a0001c0003t0012 a0001c0004t0006 a0001c0005t0002 a0001c0005t0006 a0001c0005t0007 a0001c0005t0008 a0001c0006t0001 a0001c0007t0005 a0001c0008t0001 a0001c0008t0005 a0001c0009t0001 a0001c0014t0004 a0001c0019t0004 a0001c0020t0001 a0001c0022t0001 a0001c0027t0005 a0001c0029t0001 a0001c0037t0002 a0001c0038t0002 a0001c0046t0003 a0001c0057t0009 a0001c0067t0005 a0002c0013t0004 a0006c0035t0005	a0001c0001t0002g0266 a0001c0001t0002g0298 a0001c0001t0002g0303 others(76): Show a0001c0001t0002g0266 a0001c0001t0002g0298 a0001c0001t0002g0303 a0001c0001t0002g0308 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0277 a0001c0001t0003g0286 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0003g0323 a0001c0001t0003g0341 a0001c0001t0006g0127 a0001c0001t0006g0312 a0001c0001t0008g0300 a0001c0002t0002g0309 a0001c0002t0004g0102 a0001c0002t0004g0184 a0001c0002t0004g0311 a0001c0002t0004g0318 a0001c0002t0006g0271 a0001c0003t0001g0021 a0001c0003t0001g0085 a0001c0003t0001g0135 a0001c0003t0001g0159 a0001c0003t0001g0259 a0001c0003t0001g0262 a0001c0003t0001g0268 a0001c0003t0001g0276 a0001c0003t0001g0278 a0001c0003t0001g0284 a0001c0003t0001g0297 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0313 a0001c0003t0001g0316 a0001c0003t0012g0263 a0001c0004t0006g0293 a0001c0005t0002g0282 a0001c0005t0002g0310 a0001c0005t0002g0326 a0001c0005t0006g0307 a0001c0005t0007g0032 a0001c0005t0008g0306 a0001c0006t0001g0065 a0001c0006t0001g0291 a0001c0006t0001g0327 a0001c0007t0005g0281 a0001c0008t0001g0267 a0001c0008t0005g0105 a0001c0008t0005g0299 a0001c0008t0005g0342 a0001c0008t0005g0362 a0001c0009t0001g0322 a0001c0014t0004g0273 a0001c0019t0004g0083 a0001c0019t0004g0084 a0001c0020t0001g0324 a0001c0022t0001g0280 a0001c0022t0001g0294 a0001c0022t0001g0305 a0001c0027t0005g0030 a0001c0027t0005g0321 a0001c0029t0001g0275 a0001c0029t0001g0304 a0001c0037t0002g0219 a0001c0038t0002g0325 a0001c0046t0003g0062 a0001c0057t0009g0332 a0001c0067t0005g0270 a0002c0013t0004g0026 a0002c0013t0004g0252 a0002c0013t0004g0253 a0006c0035t0005g0269	79	402	0.1965	50	c.186 others(67): Show c.186+3350_186+3351insTGTCCTCCACCCTGGGCCAAAGCACTGT CCTCCACCCTGGGCCAAAGCAT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21			chr10	TogoVar
PGAP3_chr17_39666122_39693057	39691902	T T	TATAGATA others(43): Show TATAGATATAGATATAGATATAGATATAGATATATATACATATACATATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0172 a0001c0003t0005g0172	1	376	0.0027	50	c.-38 others(61): Show c.-3889_-3888insGTATATGTATATGTATATATATCTATATCTATAT CTATATCTATATCTAT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3846		chr17	TogoVar
PGBD5_chr1_230309490_230431332	230335681	A A	ACAAACAT others(43): Show ACAAACATACAGATGCACACGCACACATAGACACAAACAGATGCACACAT G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG02896.hp2 others(3): Show HG01891.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG03209.hp2 HG03225.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0022 a0001c0001t0043 a0001c0001t0087 others(2): Show a0001c0001t0022 a0001c0001t0043 a0001c0001t0087 a0001c0001t0088 a0005c0011t0022	a0001c0001t0022g0084 a0001c0001t0022g0097 a0001c0001t0043g0002 others(3): Show a0001c0001t0022g0084 a0001c0001t0022g0097 a0001c0001t0043g0002 a0001c0001t0087g0096 a0001c0001t0088g0112 a0005c0011t0022g0095	6	288	0.0208	50	c.107 others(69): Show c.1075+1426_1075+1427insCATGTGTGCATCTGTTTGTGTCTATG TGTGCGTGTGCATCTGTATGTTTG	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	4/6			chr1	TogoVar
PGS1_chr17_78373649_78429659	78422487	A A	ATGGGTGT others(43): Show ATGGGTGTGTTTGCCTTTTTTCCCCCTTTTGAGACAGGGTCTCACTCTGT C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00733.hp2 HG01069.hp2 others(21): Show HG00558.hp2 HG00733.hp2 HG01069.hp2 HG01074.hp2 HG01123.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01515.hp2 HG01891.hp2 HG02004.hp1 HG02129.hp2 HG02257.hp1 HG02300.hp2 HG02896.hp1 HG03491.hp2 HG03492.hp1 HG04199.hp1 HG04228.hp2 NA18952.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0002 a0001c0002t0002 a0001c0011t0002 a0001c0001t0002 a0001c0002t0002 a0001c0011t0002	a0001c0001t0002g0263 a0001c0001t0002g0270 a0001c0001t0002g0370 others(21): Show a0001c0001t0002g0263 a0001c0001t0002g0270 a0001c0001t0002g0370 a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0002t0002g0065 a0001c0002t0002g0068 a0001c0002t0002g0076 a0001c0002t0002g0080 a0001c0002t0002g0112 a0001c0002t0002g0189 a0001c0002t0002g0196 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0269 a0001c0011t0002g0315	24	398	0.0603	50	c.11 others(67): Show c.11-1573_*11-1524dupTGGGTGTGTTTGCCTTTTTTCCCCCTTT TGAGACAGGGTCTCACTCTGTC	PGS1	ENSG00000087157.19	transcript	ENST00000262764.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
PHACTR1_chr6_12711767_13292837	13003963	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATGTATATATATATATATAT G	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	108	0.0093	50	c.251 others(69): Show c.251-49401_251-49400insATATATATATATATATATATATATAT ATATGTATATATATATATATATGT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59635194	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	250	0.0040	50	c.118 others(69): Show c.118+30063_118+30064insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59674614	C C	CTCCCTTC others(43): Show CTCCCTTCTCCTGTTCCCCACTTCTCCTCTTCCCACCTTCTCCTGTTCCT G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19074.hp2 NA18971.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0203 a0001c0001t0001g0204	2	250	0.0080	50	c.119 others(69): Show c.119-68493_119-68492insTCCCTTCTCCTGTTCCCCACTTCTCC TCTTCCCACCTTCTCCTGTTCCTG	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12			chr20	TogoVar
PHEX_chrX_22027325_22256310	22224947	A A	AATTATCA others(43): Show AATTATCATACAGCGCTGTATGATTTATTATCATACAGCGCTGTATGATT T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02056.hp1 HG02135.hp1 others(17): Show HG01891.hp1 HG02056.hp1 HG02135.hp1 HG02280.hp1 HG02523.hp1 HG03471.hp1 HG03579.hp1 NA18943.hp1 NA18960.hp1 NA18964.hp2 NA18977.hp1 NA18993.hp2 NA19001.hp1 NA19010.hp2 NA19011.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19070.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 others(12): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0023 a0001c0001t0025 a0001c0001t0039 a0001c0001t0041 a0001c0001t0044 a0001c0001t0054 a0001c0001t0055 a0001c0001t0061 a0001c0001t0079 a0001c0001t0093 a0001c0001t0105 a0001c0001t0127	a0001c0001t0003g0089 a0001c0001t0009g0144 a0001c0001t0009g0200 others(17): Show a0001c0001t0003g0089 a0001c0001t0009g0144 a0001c0001t0009g0200 a0001c0001t0009g0214 a0001c0001t0009g0215 a0001c0001t0013g0064 a0001c0001t0013g0085 a0001c0001t0013g0096 a0001c0001t0023g0204 a0001c0001t0025g0165 a0001c0001t0039g0181 a0001c0001t0041g0202 a0001c0001t0044g0224 a0001c0001t0054g0168 a0001c0001t0055g0169 a0001c0001t0061g0196 a0001c0001t0079g0191 a0001c0001t0093g0044 a0001c0001t0105g0088 a0001c0001t0127g0047	20	231	0.0866	50	c.190 others(69): Show c.1900-1458_1900-1457insGCTGTATGATTTATTATCATACAGCG CTGTATGATTTATTATCATACAGC	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	18/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PHEX_chrX_22027325_22256310	22224947	A A	AATTATCA others(43): Show AATTATCATACAGTGCTGTATGATTTATTATCATACAGCGCTGTATGATT T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG02630.hp1 others(3): Show HG01109.hp1 HG02257.hp1 HG02630.hp1 HG02630.hp2 HG03041.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0048 a0001c0001t0049 a0001c0001t0101 others(3): Show a0001c0001t0048 a0001c0001t0049 a0001c0001t0101 a0001c0001t0146 a0001c0001t0162 a0001c0004t0145	a0001c0001t0048g0166 a0001c0001t0049g0148 a0001c0001t0101g0045 others(3): Show a0001c0001t0048g0166 a0001c0001t0049g0148 a0001c0001t0101g0045 a0001c0001t0146g0030 a0001c0001t0162g0024 a0001c0004t0145g0010	6	231	0.0260	50	c.190 others(69): Show c.1900-1484_1900-1483insTGCTGTATGATTTATTATCATACAGC GCTGTATGATTTATTATCATACAG	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	18/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PHF3_chr6_63630802_63731011	63727737	A A	AAAATATA others(43): Show AAAATATATATATATATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0283 a0001c0001t0025g0283	1	320	0.0031	50	c.14 others(63): Show c.14029_*14030insAAATATATATATATATATATATATATATATAT ATATATATATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1727		chr6	TogoVar
PHKA1_chrX_72573814_72719306	72681993	T T	TCTGCCCG others(43): Show TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCC C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	237	0.0042	50	c.537 others(67): Show c.537+2504_537+2505insGGGGCCGACCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72682076	T T	TGGGGGGG others(43): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02717.hp1 others(1): Show HG01243.hp1 HG02109.hp1 HG02717.hp1 HG03195.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0004c0006 a0001c0001 a0001c0008 a0004c0006	a0001c0001t0001 a0001c0008t0001 a0004c0006t0001 a0001c0001t0001 a0001c0008t0001 a0004c0006t0001	a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0008t0001g0020 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0008t0001g0020 a0004c0006t0001g0021	4	237	0.0169	50	c.537 others(67): Show c.537+2421_537+2422insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHLDB2_chr3_111854265_111981517	111866014	A A	ATTTTTTT others(43): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0212 a0001c0005t0001g0212	1	286	0.0035	50	c.-15 others(67): Show c.-15+6462_-15+6463insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	PHLDB2	ENSG00000144824.21	transcript	ENST00000431670.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PHLPP1_chr18_62710541_62985433	62849826	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	192	0.0052	50	c.190 others(71): Show c.1900-10608_1900-10607insTATATATATATATATATATATATA TATATATATATATATATATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIAS1_chr15_68049315_68198847	68050492	T T	TATACATA others(43): Show TATACATATATATATTCATATATATATACATATATATTCATATATATATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03486.hp1 HG02258.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0004 a0001c0001t0002g0005	2	260	0.0077	50	c.-38 others(61): Show c.-3835_-3834insATACATATATATATTCATATATATATACATATAT ATTCATATATATATAC	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding		3822		chr15	TogoVar
PIAS4_chr19_4002736_4044386	4036294	A A	ACATCCAT others(43): Show ACATCCATACAGTCCACACCATCACACACACATCTATACAGTCCACACCA T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(78): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG03209.hp1 HG03239.hp2 HG03490.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18942.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA19007.hp2 NA19059.hp1 NA19060.hp2 NA19079.hp1 NA19084.hp1 NA19089.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0016	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0002t0010 a0001c0002t0018 a0001c0009t0001 a0001c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(71): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0265 a0001c0001t0009g0093 a0001c0001t0009g0095 a0001c0001t0010g0140 a0001c0001t0013g0052 a0001c0001t0014g0135 a0001c0001t0016g0023 a0001c0002t0001g0044 a0001c0002t0010g0105 a0001c0002t0018g0138 a0001c0009t0001g0010 a0001c0009t0001g0072 a0001c0009t0001g0073 a0001c0009t0001g0074 a0001c0016t0001g0125	81	334	0.2425	50	c.114 others(69): Show c.1143-1078_1143-1077insTCCATACAGTCCACACCATCACACAC ACATCTATACAGTCCACACCATCA	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(43): Show CACACACACACACACACACACACACACACACACACATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	158	0.0063	50	c.719 others(67): Show c.7191-400_7191-399insATATATATATATATATGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(43): Show CACACACACACACACACACACACACACATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0006 a0006	a0006c0077 a0006c0077	a0006c0077t0006 a0006c0077t0006	a0006c0077t0006g0001 a0006c0077t0006g0001	1	158	0.0063	50	c.719 others(67): Show c.7191-400_7191-399insATATATATATATATATATATATATGTGT GTGTGTGTGTGTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(43): Show CACACACACACACACACACACACACATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0152 a0006c0004t0001g0152	1	158	0.0063	50	c.719 others(67): Show c.7191-400_7191-399insATATATATATATATATATATATATATGT GTGTGTGTGTGTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886368	A A	ATGTGTGT others(43): Show ATGTGTGTGTATATATATATATATATACACACACACATATATGTGTGTGT G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0006 a0006	a0006c0077 a0006c0077	a0006c0077t0006 a0006c0077t0006	a0006c0077t0006g0001 a0006c0077t0006g0001	1	158	0.0063	50	c.330 others(69): Show c.330-14954_330-14953insCACACACACATATATGTGTGTGTGTA TATATATATATATATACACACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(43): Show CATATATATATATATATATGTATGTATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03098.hp2 HG02258.hp1 HG03098.hp2	a0014 a0018 a0014 a0018	a0014c0036 a0018c0030 a0014c0036 a0018c0030	a0014c0036t0002 a0018c0030t0001 a0014c0036t0002 a0018c0030t0001	a0014c0036t0002g0037 a0018c0030t0001g0079 a0014c0036t0002g0037 a0018c0030t0001g0079	2	158	0.0127	50	c.330 others(69): Show c.330-15073_330-15072insATATATATATATATATATATATATAT ACATACATATATATATATATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIGN_chr18_62036164_62192056	62125125	A A	AATATACG others(43): Show AATATACGTTTGTACATACATGTATATATACACGTTTGTACATACATGTA T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp1 HG01891.hp1 HG02572.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0052 a0001c0009t0053 a0001c0009t0052 a0001c0009t0053	a0001c0009t0052g0201 a0001c0009t0053g0202 a0001c0009t0052g0201 a0001c0009t0053g0202	2	342	0.0059	50	c.117 others(71): Show c.1173-10487_1173-10486insATACATGTATGTACAAACGTGTAT ATATACATGTATGTACAAACGTATAT	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	14/30			chr18	TogoVar
PIK3C2B_chr1_204417633_204499805	204471058	C C	CATGGCTT others(43): Show CATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02818.hp1 others(9): Show HG02451.hp1 HG02559.hp1 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03471.hp2 NA18612.hp1 NA20300.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0001c0038 a0003c0044 a0003c0045 a0004c0037 a0007c0046	a0001c0001t0001 a0001c0003t0001 a0001c0003t0012 others(7): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0012 a0001c0008t0011 a0001c0008t0014 a0001c0038t0003 a0003c0044t0001 a0003c0045t0003 a0004c0037t0002 a0007c0046t0001	a0001c0001t0001g0225 a0001c0003t0001g0042 a0001c0003t0012g0235 others(9): Show a0001c0001t0001g0225 a0001c0003t0001g0042 a0001c0003t0012g0235 a0001c0008t0011g0245 a0001c0008t0011g0257 a0001c0008t0011g0258 a0001c0008t0014g0265 a0001c0038t0003g0043 a0003c0044t0001g0263 a0003c0045t0003g0261 a0004c0037t0002g0068 a0007c0046t0001g0266	12	302	0.0397	50	c.-84 others(67): Show c.-84-1173_-84-1172insCATGTGAGAATACCAGTGAAGCCATCAT GTGAGAATACCAGTGAAGCCAT	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIM1_chr6_37165152_37180428	37179358	A A	AATATATA others(43): Show AATATATATTATATATTATATATATAATATATAATATATATTATATATTA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03927.hp1 HG03831.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	2	414	0.0048	50	c.52 others(61): Show c.5267_*5268insATATATATTATATATTATATATATAATATATAAT ATATATTATATATTAT	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3931		chr6	TogoVar
PIP4K2A_chr10_22529854_22719578	22664048	C C	CATATATA others(43): Show CATATATATATATACACATATATATATATATATACATATATATATACGTA T	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0009 a0002c0006t0009	a0002c0006t0009g0011 a0002c0006t0009g0011	1	206	0.0049	50	c.144 others(69): Show c.144+50134_144+50135insATACGTATATATATATGTATATATAT ATATATATGTGTATATATATATAT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22664048	C C	CATATATA others(43): Show CATATATATATATATACATATATATATATATATACACATATATATACGTA T	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0008 a0002c0006t0003g0008	1	206	0.0049	50	c.144 others(69): Show c.144+50134_144+50135insATACGTATATATATGTGTATATATAT ATATATATGTATATATATATATAT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22664048	C C	CATATATA others(43): Show CATATATATATATATACATATATATATATATATACATATATATATACGTA T	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0005 a0002c0006t0003g0005	1	206	0.0049	50	c.144 others(69): Show c.144+50134_144+50135insATACGTATATATATATGTATATATAT ATATATATGTATATATATATATAT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22664048	C C	CATATATA others(43): Show CATATATATATATATACATATATATATATATATATACATATATATATACG T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18944.hp2 NA18747.hp1 NA18944.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0006 a0001c0005 a0002c0006	a0001c0005t0012 a0002c0006t0003 a0001c0005t0012 a0002c0006t0003	a0001c0005t0012g0009 a0002c0006t0003g0003 a0001c0005t0012g0009 a0002c0006t0003g0003	2	206	0.0097	50	c.144 others(69): Show c.144+50134_144+50135insACGTATATATATATGTATATATATAT ATATATATGTATATATATATATAT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22664048	C C	CATATATA others(43): Show CATATATATATATATACATATATATATATATATATACGTATATATATACG T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0006 a0001c0005t0001g0006	1	206	0.0049	50	c.144 others(69): Show c.144+50134_144+50135insACGTATATATATACGTATATATATAT ATATATATGTATATATATATATAT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP5K1C_chr19_3625183_3705468	3649038	G G	GGGGAGTT others(43): Show GGGGAGTTAACTGTCACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCG C	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	332	0.0030	50	c.112 others(67): Show c.1128-331_1128-330insGCGCTGGGCAGGGGACGTGTGGGCACGG TGCCGGGTGACAGTTAACTCCC	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649048	T T	TTGTCACC others(43): Show TTGTCACCCGGCACCATGCCCACAGGTCCCCTGCCCAGCGCGGGAGTTAA C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0061 a0001c0001t0010g0061	1	332	0.0030	50	c.112 others(67): Show c.1128-341_1128-340insGTTAACTCCCGCGCTGGGCAGGGGACCT GTGGGCATGGTGCCGGGTGACA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649163	A A	ATGCCCAC others(43): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01943.hp1 HG02080.hp2 HG00642.hp1 HG01943.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0107 a0001c0001t0004g0133 a0001c0001t0004g0035 a0001c0001t0004g0107 a0001c0001t0004g0133	3	332	0.0090	50	c.112 others(67): Show c.1128-456_1128-455insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649263	A A	ATGCCCAC others(43): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(14): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG02015.hp1 HG02074.hp2 HG02886.hp1 HG03942.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18989.hp2 NA19005.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0027	a0001c0001t0001g0036 a0001c0001t0004g0046 a0001c0001t0004g0055 others(14): Show a0001c0001t0001g0036 a0001c0001t0004g0046 a0001c0001t0004g0055 a0001c0001t0004g0067 a0001c0001t0004g0106 a0001c0001t0004g0112 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0002t0003g0181 a0001c0002t0003g0279 a0001c0002t0003g0294 a0001c0002t0004g0296 a0001c0002t0004g0299 a0001c0002t0008g0283 a0001c0002t0027g0157	17	332	0.0512	50	c.112 others(67): Show c.1128-605_1128-556dupCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649416	C C	CCCACACG others(43): Show CCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACCGTG A	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0321 a0001c0001t0004g0321	1	332	0.0030	50	c.112 others(67): Show c.1128-709_1128-708insTCACGGTGCCGGGTGACAGTTAACTCCC GCGCTGGGCAGGGGACGTGTGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649431	C C	CCCAGCGC others(43): Show CCCAGCGCGGGAGTTAACTGTCACCCGGCACCGTGCCCACACGTCCCCTG T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00597.hp2 others(25): Show HG00423.hp1 HG00558.hp2 HG00597.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG02129.hp1 HG02135.hp2 HG02559.hp2 HG03041.hp2 HG03486.hp1 HG03688.hp1 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18950.hp1 NA18960.hp1 NA18961.hp2 NA18970.hp1 NA18982.hp2 NA18985.hp2 NA19000.hp1 NA19007.hp2 NA19012.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0051 a0001c0002t0006	a0001c0001t0001g0001 a0001c0001t0003g0113 a0001c0001t0004g0010 others(24): Show a0001c0001t0001g0001 a0001c0001t0003g0113 a0001c0001t0004g0010 a0001c0001t0004g0018 a0001c0001t0004g0021 a0001c0001t0004g0025 a0001c0001t0004g0039 a0001c0001t0004g0056 a0001c0001t0004g0066 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0073 a0001c0001t0004g0104 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0117 a0001c0001t0004g0122 a0001c0001t0004g0173 a0001c0001t0004g0212 a0001c0001t0004g0300 a0001c0001t0006g0088 a0001c0001t0006g0119 a0001c0001t0006g0129 a0001c0001t0006g0131 a0001c0001t0006g0216 a0001c0001t0051g0040 a0001c0002t0006g0184	28	332	0.0843	50	c.112 others(67): Show c.1128-724_1128-723insACAGGGGACGTGTGGGCACGGTGCCGGG TGACAGTTAACTCCCGCGCTGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PITPNC1_chr17_67372281_67702256	67522659	C C	CTTTTTTT others(43): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	218	0.0046	50	c.49- others(67): Show c.49-10129_49-10128insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar

Search by Variant

Search

Search Results