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
PGAP2_chr11_3803560_3831371	3814748	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0068 a0001c0001t0008g0068	1	418	0.0024	-28	c.166 others(45): Show c.166-2567_166-2540delTTCTTTCTTTCTTTCTTTCTTTCTTTCT	PGAP2	ENSG00000148985.20	transcript	ENST00000278243.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
PGBD5_chr1_230309490_230431332	230316138	GTATATGT others(21): Show GTATATGTGTACACATATATGTATGTGTA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02647.hp2 HG02895.hp2 HG02257.hp1 HG02647.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0042 a0001c0001t0028 a0001c0001t0042	a0001c0001t0028g0018 a0001c0001t0028g0051 a0001c0001t0042g0003 a0001c0001t0028g0018 a0001c0001t0028g0051 a0001c0001t0042g0003	3	288	0.0104	-28	c.72 others(39): Show c.7259_*7286delTACACATACATATATGTGTACACATATA	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	7/7	7259		chr1	TogoVar
PGLYRP2_chr19_15463645_15484501	15482608	CTTCCTTC others(21): Show CTTCCTTCTTTCTTTCTTTCTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0020 a0020	a0020c0020 a0020c0020	a0020c0020t0001 a0020c0020t0001	a0020c0020t0001g0151 a0020c0020t0001g0151	1	382	0.0026	-28	c.-32 others(39): Show c.-3265_-3238delAGAAAGAAAGAAAGAAAGAAAGAAGGAA	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding		3108		chr19	TogoVar
PGLYRP3_chr1_153292116_153317952	153297499	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02922.hp1 HG02970.hp1 others(1): Show HG02055.hp1 HG02922.hp1 HG02970.hp1 HG03486.hp1	a0002 a0005 a0002 a0005	a0002c0008 a0005c0012 a0002c0008 a0005c0012	a0002c0008t0046 a0005c0012t0104 a0005c0012t0105 a0002c0008t0046 a0005c0012t0104 a0005c0012t0105	a0002c0008t0046g0066 a0005c0012t0104g0069 a0005c0012t0105g0070 a0002c0008t0046g0066 a0005c0012t0104g0069 a0005c0012t0105g0070	4	434	0.0092	-28	c.42 others(37): Show c.429_*456delCCTTCCTTCCTTCCTTCCTTCCTTCCTT	PGLYRP3	ENSG00000159527.4	transcript	ENST00000683862.1	protein_coding	8/8	429		chr1	TogoVar
PGLYRP3_chr1_153292116_153317952	153297526	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0115 a0002c0002t0115	a0002c0002t0115g0147 a0002c0002t0115g0147	1	434	0.0023	-28	c.40 others(37): Show c.402_*429delTTTCCTTCCTTCCTTCCTTCCTTCCTTC	PGLYRP3	ENSG00000159527.4	transcript	ENST00000683862.1	protein_coding	8/8	402		chr1	TogoVar
PGM5_chr9_68351611_68536061	68406660	GTATATAT others(21): Show GTATATATATATATATATGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG02135.hp1 others(11): Show HG00639.hp2 HG00642.hp1 HG02135.hp1 HG02148.hp1 HG02922.hp2 HG04199.hp1 NA18944.hp2 NA18946.hp1 NA18955.hp2 NA18965.hp2 NA18975.hp2 NA19003.hp2 NA19004.hp2 NA19063.hp2	a0000 a0001 a0004 a0000 a0001 a0004	a0000c0016 a0001c0001 a0001c0002 others(2): Show a0000c0016 a0001c0001 a0001c0002 a0001c0003 a0004c0010	a0000c0016t0001 a0001c0001t0001 a0001c0001t0006 others(6): Show a0000c0016t0001 a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0021 a0001c0002t0002 a0001c0003t0015 a0004c0010t0019	a0000c0016t0001g0112 a0001c0001t0001g0100 a0001c0001t0001g0113 others(11): Show a0000c0016t0001g0112 a0001c0001t0001g0100 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0153 a0001c0001t0001g0171 a0001c0001t0006g0140 a0001c0001t0007g0232 a0001c0001t0010g0223 a0001c0001t0021g0224 a0001c0002t0002g0050 a0001c0003t0015g0007 a0004c0010t0019g0245	14	246	0.0569	-28	c.104 others(49): Show c.1043+14205_1043+14232delGTATATATATATATATATATATAT ATAT	PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PGPEP1_chr19_18335598_18374950	18340510	AGGGCGCG others(21): Show AGGGCGCGCACGCTGCGTCTCGGGCCCGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0285 a0001c0001t0094g0285	1	412	0.0024	-28	c.-17 others(37): Show c.-171_-144delGGGCGCGCACGCTGCGTCTCGGGCCCGG	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding		87		chr19	TogoVar
PHACTR2_chr6_143672965_143836185	143771131	CATATATA others(21): Show CATATATATATATGTATATATATATATGT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0012 a0001c0001t0107g0012	1	310	0.0032	-28	c.123 others(47): Show c.1233-1114_1233-1087delGTATATATATATATGTATATATATAT AT	PHACTR2	ENSG00000112419.15	transcript	ENST00000440869.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR2_chr6_143672965_143836185	143827155	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp2 HG02976.hp2 HG02809.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0101 a0001c0001t0100 a0001c0001t0101	a0001c0001t0100g0050 a0001c0001t0101g0017 a0001c0001t0100g0050 a0001c0001t0101g0017	2	310	0.0065	-28	c.34 others(39): Show c.3483_*3510delATATATATATATATATATATATATATAT	PHACTR2	ENSG00000112419.15	transcript	ENST00000440869.7	protein_coding	13/13	3483	INFO_REALIGN_3_PRIME	chr6	TogoVar
PHC2_chr1_33318626_33436095	33356249	TTATATAT others(21): Show TTATATATATATATATATATATATATATG	T T	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18975.hp2 NA19058.hp2 NA18965.hp2 NA18975.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0176 a0001c0001t0008g0177 a0001c0001t0008g0178 a0001c0001t0008g0176 a0001c0001t0008g0177 a0001c0001t0008g0178	3	370	0.0081	-28	c.977 others(44): Show c.977-1024_977-997delCATATATATATATATATATATATATATA	PHC2	ENSG00000134686.21	transcript	ENST00000683057.1	protein_coding	7/14			chr1	TogoVar
PHC3_chr3_170082584_170186733	170111297	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAGGAACGAAC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0029 a0010c0007t0029	a0010c0007t0029g0323 a0010c0007t0029g0323	1	332	0.0030	-28	c.235 others(47): Show c.2353+2035_2353+2062delGTTCGTTCCTTCCTTCCTTCCTTCCT TC	PHC3	ENSG00000173889.16	transcript	ENST00000495893.7	protein_coding	11/14			chr3	TogoVar
PHF11_chr13_49490953_49533976	49515455	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA18980.hp1 HG01257.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0054 a0001c0001t0002g0169 a0001c0001t0001g0054 a0001c0001t0002g0169	2	414	0.0048	-28	c.324 others(45): Show c.324+2311_324+2338delCACACACACACACACACACACACACACA	PHF11	ENSG00000136147.18	transcript	ENST00000378319.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
PHKA1_chrX_72573814_72719306	72578491	AAAGAAAA others(21): Show AAAGAAAAGAAAAGAAAAGAAAAGAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02717.hp1 HG02896.hp2 others(2): Show HG02109.hp1 HG02717.hp1 HG02896.hp2 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0008t0001g0020	5	237	0.0211	-28	c.24 others(39): Show c.2483_*2510delCTTTTCTTTTCTTTTCTTTTCTTTTCTT	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding		322		chrX	TogoVar
PHKG2_chr16_30743425_30766176	30748998	CGGGTGGT others(21): Show CGGGTGGTGGTGGTGGTGGTGGTGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0153 a0001c0001t0004g0153	1	264	0.0038	-28	c.95+ others(40): Show c.95+86_95+113delGTGGTGGTGGTGGTGGTGGTGGTGGTGG	PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHLPP1_chr18_62710541_62985433	62801009	TTCCCTCC others(21): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG01169.hp1 others(5): Show HG01074.hp2 HG01167.hp1 HG01169.hp1 HG02083.hp1 HG02735.hp1 HG02738.hp1 HG03225.hp1 NA20805.hp2	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0002 a0003c0004 a0012c0023 a0001c0002 a0003c0004 a0012c0023	a0001c0002t0006 a0001c0002t0009 a0003c0004t0008 others(3): Show a0001c0002t0006 a0001c0002t0009 a0003c0004t0008 a0003c0004t0017 a0003c0004t0018 a0012c0023t0008	a0001c0002t0006g0005 a0001c0002t0006g0049 a0001c0002t0009g0062 others(5): Show a0001c0002t0006g0005 a0001c0002t0006g0049 a0001c0002t0009g0062 a0003c0004t0008g0058 a0003c0004t0008g0059 a0003c0004t0017g0057 a0003c0004t0018g0061 a0012c0023t0008g0056	8	192	0.0417	-28	c.157 others(49): Show c.1577-28994_1577-28967delCTCCCTCCCTCCCTCCCTCCCTCC CTCC	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHTF2_chr7_77793773_77962225	77911173	TACTATAC others(21): Show TACTATACAAAAATGGCTTTTTGCATACA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG00642.hp2 others(46): Show HG00280.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG01167.hp2 HG01169.hp1 HG01256.hp2 HG01258.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02132.hp2 HG02165.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18962.hp1 NA19068.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0006t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0081 others(46): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0006g0265 a0001c0001t0006g0296 a0001c0001t0006g0300 a0001c0002t0002g0061 a0001c0006t0001g0275	49	314	0.1561	-28	c.674 others(43): Show c.674+867_674+894delTTTGCATACAACTATACAAAAATGGCTT	PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHYHIPL_chr10_59171643_59252770	59180314	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG00733.hp2 others(30): Show HG00558.hp1 HG00597.hp2 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01123.hp1 HG01255.hp2 HG02129.hp1 HG02132.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02602.hp2 HG02735.hp2 HG03654.hp2 HG03831.hp1 HG04204.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18963.hp2 NA18981.hp2 NA18990.hp1 NA18997.hp1 NA19003.hp1 NA19067.hp1 NA19077.hp2 NA19083.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0010 a0002c0002t0001 a0002c0002t0010	a0002c0002t0001g0023 a0002c0002t0001g0129 a0002c0002t0001g0130 others(30): Show a0002c0002t0001g0023 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0197 a0002c0002t0010g0161	33	202	0.1634	-28	c.106 others(45): Show c.106+3376_106+3403delTATATATATATATATATATATATATATA	PHYHIPL	ENSG00000165443.12	transcript	ENST00000373880.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PI4K2A_chr10_97635671_97681434	97678880	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG02083.hp1 HG03492.hp2 HG00280.hp2 HG02083.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0261 a0001c0001t0001g0283 a0001c0003t0003g0339 a0001c0001t0001g0261 a0001c0001t0001g0283 a0001c0003t0003g0339	3	350	0.0086	-28	c.51 others(39): Show c.5139_*5166delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2447		chr10	TogoVar
PI4K2B_chr4_25229033_25284204	25236206	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	436	0.0023	-28	c.268 others(45): Show c.268+1800_268+1827delAAATAAATAAATAAATAAATAAATAAAT	PI4K2B	ENSG00000038210.14	transcript	ENST00000264864.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
PIAS1_chr15_68049315_68198847	68129794	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18612.hp1 NA18982.hp2 others(4): Show HG00438.hp2 NA18612.hp1 NA18982.hp2 NA18999.hp2 NA19010.hp2 NA19070.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0016 a0001c0002t0007g0017 a0001c0002t0007g0018 others(4): Show a0001c0002t0007g0016 a0001c0002t0007g0017 a0001c0002t0007g0018 a0001c0002t0007g0019 a0001c0002t0007g0020 a0001c0002t0007g0021 a0001c0002t0007g0022	7	260	0.0269	-28	c.470 others(47): Show c.470-12137_470-12110delACACACACACACACACACACACACAC AC	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS2_chr18_46798218_46922507	46803044	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 NA19001.hp1 HG02040.hp1 NA19001.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0076 a0002c0006t0120 a0001c0001t0076 a0002c0006t0120	a0001c0001t0076g0149 a0002c0006t0120g0317 a0001c0001t0076g0149 a0002c0006t0120g0317	2	322	0.0062	-28	c.93 others(39): Show c.9361_*9388delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding		173		chr18	TogoVar
PIBF1_chr13_72777133_73021461	72844728	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0245 a0003c0003t0001g0245	1	346	0.0029	-28	c.122 others(47): Show c.1224-9284_1224-9257delACACACACACACACACACACACACAC AC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PID1_chr2_229018973_229276287	229139029	AAGAAAGA others(21): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	256	0.0039	-28	c.177 others(47): Show c.177+16761_177+16788delCTTTCTTTCTTTCTTTCTCTTTCTTT CT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229163654	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGCGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00544.hp1 others(37): Show HG00140.hp1 HG00438.hp1 HG00544.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp2 HG01496.hp1 HG01934.hp1 HG02015.hp2 HG02129.hp2 HG03654.hp1 HG03669.hp2 HG03927.hp1 HG04115.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18944.hp2 NA18952.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18983.hp2 NA18999.hp1 NA19009.hp2 NA19070.hp2 NA19077.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0007	a0001c0001t0001g0022 a0001c0001t0001g0045 a0001c0001t0001g0048 others(37): Show a0001c0001t0001g0022 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0239 a0001c0001t0002g0081 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0120 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0181 a0001c0001t0002g0186 a0001c0001t0002g0196 a0001c0001t0002g0206 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0003g0006 a0001c0001t0003g0023 a0001c0001t0003g0053 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0073 a0001c0001t0003g0107 a0001c0001t0003g0125 a0001c0001t0003g0219 a0001c0001t0008g0017 a0001c0002t0007g0098	40	256	0.1563	-28	c.31- others(43): Show c.31-7718_31-7691delGCACACGCACACACACACACACACACAC	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PIEZO2_chr18_10665247_11154569	10720397	GTGTGTGT others(21): Show GTGTGTGTATGTGTATGTGTATGTATATA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0007 a0001c0024t0007	a0001c0024t0007g0002 a0001c0024t0007g0002	1	158	0.0063	-28	c.503 others(47): Show c.5030-2166_5030-2139delTATATACATACACATACACATACACA CA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10720401	GTGTATGT others(21): Show GTGTATGTGTATGTGTATGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0029 a0029	a0029c0043 a0029c0043	a0029c0043t0002 a0029c0043t0002	a0029c0043t0002g0036 a0029c0043t0002g0036	1	158	0.0063	-28	c.503 others(47): Show c.5030-2170_5030-2143delTATATATATACATACACATACACATA CA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10720403	GTATGTGT others(21): Show GTATGTGTATGTGTATGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03486.hp1 HG03492.hp2 HG03130.hp2 HG03486.hp1 HG03492.hp2	a0007 a0009 a0007 a0009	a0007c0090 a0009c0010 a0007c0090 a0009c0010	a0007c0090t0001 a0009c0010t0002 a0007c0090t0001 a0009c0010t0002	a0007c0090t0001g0134 a0009c0010t0002g0075 a0009c0010t0002g0154 a0007c0090t0001g0134 a0009c0010t0002g0075 a0009c0010t0002g0154	3	158	0.0190	-28	c.503 others(47): Show c.5030-2172_5030-2145delTATATATATATACATACACATACACA TA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10720407	GTGTATGT others(21): Show GTGTATGTGTATGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0093 a0001c0021t0002g0093	1	158	0.0063	-28	c.503 others(47): Show c.5030-2176_5030-2149delTATATATATATATATACATACACATA CA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10720415	GTATGTAT others(21): Show GTATGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0123 a0002c0001t0001g0123	1	158	0.0063	-28	c.503 others(47): Show c.5030-2184_5030-2157delTATATATATATATATATATATATACA TA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10880846	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02809.hp1 HG02896.hp2 others(5): Show HG01175.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03225.hp2 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0014 a0025	a0001c0006 a0002c0001 a0003c0011 others(4): Show a0001c0006 a0002c0001 a0003c0011 a0004c0022 a0006c0004 a0014c0083 a0025c0053	a0001c0006t0001 a0002c0001t0001 a0002c0001t0002 others(5): Show a0001c0006t0001 a0002c0001t0001 a0002c0001t0002 a0003c0011t0001 a0004c0022t0002 a0006c0004t0003 a0014c0083t0002 a0025c0053t0002	a0001c0006t0001g0115 a0002c0001t0001g0087 a0002c0001t0002g0151 others(5): Show a0001c0006t0001g0115 a0002c0001t0001g0087 a0002c0001t0002g0151 a0003c0011t0001g0054 a0004c0022t0002g0085 a0006c0004t0003g0149 a0014c0083t0002g0132 a0025c0053t0002g0067	8	158	0.0506	-28	c.330 others(45): Show c.330-9459_330-9432delATATATATATATATATATATATATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIGK_chr1_77083989_77224430	77189722	TATATATA others(21): Show TATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18998.hp2 NA19078.hp1 others(1): Show HG03942.hp1 NA18998.hp2 NA19078.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0032 a0001c0001t0003g0160 a0001c0001t0003g0176 others(1): Show a0001c0001t0002g0032 a0001c0001t0003g0160 a0001c0001t0003g0176 a0001c0001t0003g0184	4	366	0.0109	-28	c.239 others(47): Show c.239+16890_239+16917delGTATATATATATATATATATATATAT AT	PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding	3/10			chr1	TogoVar
PIGK_chr1_77083989_77224430	77189732	TATATATA others(21): Show TATATATATATATATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	366	0.0027	-28	c.239 others(47): Show c.239+16880_239+16907delGTGTGTGTGTGTATATATATATATAT AT	PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding	3/10			chr1	TogoVar
PIGN_chr18_62036164_62192056	62063203	CTTTATCC others(21): Show CTTTATCCAAAATCTATGGTTTTATAGAT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18944.hp2 NA18946.hp1 others(11): Show HG02165.hp2 NA18944.hp2 NA18946.hp1 NA18951.hp1 NA18957.hp2 NA18966.hp1 NA18970.hp2 NA18986.hp2 NA18991.hp2 NA18994.hp1 NA19005.hp1 NA19007.hp2 NA19081.hp2 NA19088.hp1	a0001 a0005 a0001 a0005	a0001c0008 a0001c0020 a0005c0012 a0001c0008 a0001c0020 a0005c0012	a0001c0008t0032 a0001c0008t0033 a0001c0008t0058 others(7): Show a0001c0008t0032 a0001c0008t0033 a0001c0008t0058 a0001c0008t0139 a0001c0008t0140 a0001c0008t0141 a0001c0008t0142 a0001c0008t0143 a0001c0020t0123 a0005c0012t0033	a0001c0008t0032g0291 a0001c0008t0032g0293 a0001c0008t0032g0295 others(11): Show a0001c0008t0032g0291 a0001c0008t0032g0293 a0001c0008t0032g0295 a0001c0008t0033g0307 a0001c0008t0033g0309 a0001c0008t0058g0296 a0001c0008t0058g0308 a0001c0008t0139g0302 a0001c0008t0140g0290 a0001c0008t0141g0306 a0001c0008t0142g0294 a0001c0008t0143g0305 a0001c0020t0123g0184 a0005c0012t0033g0292	14	342	0.0409	-28	c.267 others(47): Show c.2672+9442_2672+9469delATCTATAAAACCATAGATTTTGGATA AA	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIGN_chr18_62036164_62192056	62063236	TCCAAAAT others(21): Show TCCAAAATCTATGGTTTTATAGATTTTAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00738.hp1 others(42): Show HG00323.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01168.hp2 HG01175.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG02015.hp1 HG02280.hp1 HG02300.hp2 HG02630.hp1 HG02723.hp1 HG03041.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp2 NA18941.hp1 NA18943.hp1 NA18946.hp2 NA18954.hp1 NA18955.hp2 NA18964.hp1 NA18973.hp2 NA19002.hp1 NA19057.hp2 NA19066.hp2 NA19077.hp2 NA19079.hp1 NA19083.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0003 a0001c0010 a0002c0002 others(3): Show a0001c0003 a0001c0010 a0002c0002 a0003c0004 a0004c0007 a0008c0023	a0001c0003t0011 a0001c0003t0027 a0001c0003t0045 others(31): Show a0001c0003t0011 a0001c0003t0027 a0001c0003t0045 a0001c0003t0047 a0001c0010t0019 a0001c0010t0046 a0002c0002t0004 a0002c0002t0007 a0002c0002t0008 a0002c0002t0014 a0002c0002t0019 a0002c0002t0026 a0002c0002t0027 a0002c0002t0035 a0002c0002t0041 a0002c0002t0042 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0048 a0002c0002t0069 a0002c0002t0082 a0002c0002t0085 a0002c0002t0086 a0002c0002t0088 a0002c0002t0091 a0002c0002t0094 a0002c0002t0095 a0002c0002t0096 a0002c0002t0097 a0002c0002t0098 a0003c0004t0009 a0004c0007t0065 a0008c0023t0007	a0001c0003t0011g0103 a0001c0003t0011g0107 a0001c0003t0011g0108 others(42): Show a0001c0003t0011g0103 a0001c0003t0011g0107 a0001c0003t0011g0108 a0001c0003t0027g0102 a0001c0003t0045g0057 a0001c0003t0047g0046 a0001c0003t0047g0047 a0001c0010t0019g0049 a0001c0010t0046g0050 a0002c0002t0004g0018 a0002c0002t0004g0070 a0002c0002t0004g0100 a0002c0002t0007g0081 a0002c0002t0007g0104 a0002c0002t0008g0105 a0002c0002t0014g0082 a0002c0002t0014g0084 a0002c0002t0019g0094 a0002c0002t0019g0095 a0002c0002t0026g0021 a0002c0002t0026g0044 a0002c0002t0027g0215 a0002c0002t0035g0014 a0002c0002t0041g0048 a0002c0002t0042g0089 a0002c0002t0043g0080 a0002c0002t0044g0073 a0002c0002t0044g0101 a0002c0002t0045g0036 a0002c0002t0048g0086 a0002c0002t0048g0131 a0002c0002t0069g0013 a0002c0002t0082g0115 a0002c0002t0085g0096 a0002c0002t0086g0097 a0002c0002t0088g0088 a0002c0002t0091g0040 a0002c0002t0094g0058 a0002c0002t0095g0087 a0002c0002t0096g0085 a0002c0002t0097g0059 a0002c0002t0098g0106 a0003c0004t0009g0147 a0004c0007t0065g0004 a0008c0023t0007g0098	45	342	0.1316	-28	c.267 others(47): Show c.2672+9409_2672+9436delCTAAAATCTATAAAACCATAGATTTT GG	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIGN_chr18_62036164_62192056	62063432	GCCAAAAT others(21): Show GCCAAAATCTATGGTTTTATAGATTTTAT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG00733.hp2 others(25): Show HG00423.hp2 HG00673.hp1 HG00733.hp2 HG02071.hp1 HG02165.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18951.hp1 NA18953.hp1 NA18957.hp2 NA18961.hp1 NA18966.hp1 NA18970.hp2 NA18974.hp2 NA18978.hp1 NA18986.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19081.hp2 NA19088.hp1 NA19091.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0005 a0001c0008 a0001c0020 others(3): Show a0001c0005 a0001c0008 a0001c0020 a0002c0002 a0004c0006 a0005c0012	a0001c0005t0114 a0001c0008t0032 a0001c0008t0033 others(18): Show a0001c0005t0114 a0001c0008t0032 a0001c0008t0033 a0001c0008t0058 a0001c0008t0139 a0001c0008t0140 a0001c0008t0141 a0001c0008t0142 a0001c0008t0143 a0001c0020t0123 a0002c0002t0083 a0004c0006t0031 a0004c0006t0057 a0004c0006t0066 a0004c0006t0093 a0004c0006t0134 a0004c0006t0135 a0004c0006t0136 a0004c0006t0137 a0004c0006t0138 a0005c0012t0033	a0001c0005t0114g0175 a0001c0008t0032g0291 a0001c0008t0032g0293 others(24): Show a0001c0005t0114g0175 a0001c0008t0032g0291 a0001c0008t0032g0293 a0001c0008t0032g0295 a0001c0008t0033g0307 a0001c0008t0033g0309 a0001c0008t0058g0296 a0001c0008t0058g0308 a0001c0008t0139g0302 a0001c0008t0140g0290 a0001c0008t0141g0306 a0001c0008t0142g0294 a0001c0008t0143g0305 a0001c0020t0123g0184 a0002c0002t0083g0041 a0004c0006t0031g0003 a0004c0006t0031g0303 a0004c0006t0057g0299 a0004c0006t0057g0304 a0004c0006t0066g0009 a0004c0006t0093g0218 a0004c0006t0134g0310 a0004c0006t0135g0301 a0004c0006t0136g0298 a0004c0006t0137g0300 a0004c0006t0138g0297 a0005c0012t0033g0292	28	342	0.0819	-28	c.267 others(47): Show c.2672+9213_2672+9240delATAAAATCTATAAAACCATAGATTTT GG	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIGN_chr18_62036164_62192056	62070785	CTTTATTT others(21): Show CTTTATTTTTAATTAACTAATTAATTAAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03098.hp2 HG03130.hp1 others(1): Show HG02145.hp1 HG03098.hp2 HG03130.hp1 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0007 a0002c0002t0027 others(1): Show a0002c0002t0004 a0002c0002t0007 a0002c0002t0027 a0002c0002t0043	a0002c0002t0004g0079 a0002c0002t0007g0038 a0002c0002t0027g0077 others(1): Show a0002c0002t0004g0079 a0002c0002t0007g0038 a0002c0002t0027g0077 a0002c0002t0043g0080	4	342	0.0117	-28	c.267 others(47): Show c.2672+1860_2672+1887delATTAATTAATTAGTTAATTAAAAATA AA	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIGN_chr18_62036164_62192056	62071863	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp1 HG02630.hp2 HG03098.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0018 a0001c0001 a0006c0018	a0001c0001t0130 a0006c0018t0125 a0001c0001t0130 a0006c0018t0125	a0001c0001t0130g0177 a0006c0018t0125g0181 a0001c0001t0130g0177 a0006c0018t0125g0181	2	342	0.0059	-28	c.267 others(45): Show c.2672+782_2672+809delATATATATATATATATATATATATATAT	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIGN_chr18_62036164_62192056	62125151	TATACATG others(21): Show TATACATGTTTGTACATATGTGTATATAA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0144 a0001c0015t0144	a0001c0015t0144g0322 a0001c0015t0144g0322	1	342	0.0029	-28	c.117 others(49): Show c.1173-10540_1173-10513delTTATATACACATATGTACAAACAT GTAT	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	14/30			chr18	TogoVar
PIGT_chr20_45411141_45431241	45425137	CTTTCTCT others(21): Show CTTTCTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	462	0.0022	-28	c.148 others(45): Show c.1485-435_1485-408delTTCTCTTTCTTTCTTTCTTTCTTTCTTT	PIGT	ENSG00000124155.19	transcript	ENST00000279036.12	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PIGU_chr20_34555542_34682092	34631722	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03195.hp2 HG02572.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0179 a0001c0001t0004g0185 a0001c0001t0001g0179 a0001c0001t0004g0185	2	320	0.0063	-28	c.529 others(45): Show c.529+2865_529+2892delATATATATATATATATATATATATATAT	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIGU_chr20_34555542_34682092	34631759	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	320	0.0031	-28	c.529 others(45): Show c.529+2828_529+2855delAATATATATATATATATATATATATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIGX_chr3_196707377_196741007	196732236	ATATATAT others(21): Show ATATATATATATATATATATATTTTATTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03516.hp2 HG06807.hp1 others(7): Show HG02723.hp2 HG03516.hp2 HG06807.hp1 NA18949.hp2 NA18979.hp1 NA18990.hp1 NA18990.hp2 NA19000.hp2 NA19011.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0004 a0001c0001 a0001c0013 a0002c0004	a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 others(4): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0028 a0001c0013t0006 a0002c0004t0006	a0001c0001t0006g0237 a0001c0001t0008g0046 a0001c0001t0008g0163 others(7): Show a0001c0001t0006g0237 a0001c0001t0008g0046 a0001c0001t0008g0163 a0001c0001t0011g0175 a0001c0001t0014g0171 a0001c0001t0028g0046 a0001c0013t0006g0215 a0002c0004t0006g0164 a0002c0004t0006g0203 a0002c0004t0006g0222	10	416	0.0240	-28	c.633 others(45): Show c.633+1148_633+1175delATATATATATATATATATTTTATTTTAT	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PIGX_chr3_196707377_196741007	196732240	ATATATAT others(21): Show ATATATATATATATATATTTTATTTTATT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03490.hp2 HG03927.hp2 others(1): Show HG02056.hp1 HG03490.hp2 HG03927.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0047	a0001c0001t0006g0036 a0001c0001t0008g0228 a0001c0001t0010g0036 others(1): Show a0001c0001t0006g0036 a0001c0001t0008g0228 a0001c0001t0010g0036 a0001c0001t0047g0170	4	416	0.0096	-28	c.633 others(45): Show c.633+1150_633+1177delATATATATATATATATTTTATTTTATTT	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PIGX_chr3_196707377_196741007	196732243	TATATATA others(21): Show TATATATATATATATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0211 a0001c0001t0006g0211	1	416	0.0024	-28	c.633 others(45): Show c.633+1152_633+1179delATATATATATATATTTTATTTTATTTTA	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	5/5			chr3	TogoVar
PIK3AP1_chr10_96588315_96725514	96597312	TTCCTTCC others(21): Show TTCCTTCCTTCCTTCCTTCTTTCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19079.hp1 HG02559.hp2 NA19079.hp1	a0002 a0006 a0002 a0006	a0002c0008 a0006c0013 a0002c0008 a0006c0013	a0002c0008t0004 a0006c0013t0012 a0002c0008t0004 a0006c0013t0012	a0002c0008t0004g0091 a0006c0013t0012g0128 a0002c0008t0004g0091 a0006c0013t0012g0128	2	256	0.0078	-28	c.236 others(47): Show c.2361-1706_2361-1679delGGGAAGGAAAGAAGGAAGGAAGGAAG GA	PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	16/16			chr10	TogoVar
PIK3C2A_chr11_17081575_17212986	17181603	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(50): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01943.hp2 HG02004.hp1 HG02056.hp2 HG02080.hp1 HG02622.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03492.hp2 HG03688.hp1 HG04204.hp2 NA18941.hp2 NA18950.hp1 NA18952.hp1 NA18957.hp2 NA18965.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA19006.hp2 NA19030.hp2 NA19056.hp2 NA19058.hp2 NA19067.hp2 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19089.hp2 NA19091.hp2 NA20905.hp1	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0013 a0015	a0001c0001 a0002c0004 a0009c0017 others(2): Show a0001c0001 a0002c0004 a0009c0017 a0013c0021 a0015c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0002c0004t0003 a0002c0004t0006 a0009c0017t0002 a0013c0021t0014 a0015c0007t0002	a0001c0001t0001g0147 a0001c0001t0002g0006 a0001c0001t0002g0067 others(50): Show a0001c0001t0001g0147 a0001c0001t0002g0006 a0001c0001t0002g0067 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0152 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0169 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0175 a0001c0001t0003g0198 a0001c0001t0007g0327 a0001c0001t0009g0107 a0001c0001t0009g0130 a0001c0001t0009g0133 a0001c0001t0009g0134 a0001c0001t0009g0148 a0001c0001t0010g0116 a0001c0001t0010g0151 a0001c0001t0015g0314 a0001c0001t0018g0167 a0002c0004t0003g0183 a0002c0004t0003g0190 a0002c0004t0003g0191 a0002c0004t0003g0199 a0002c0004t0006g0326 a0009c0017t0002g0104 a0013c0021t0014g0002 a0015c0007t0002g0129	53	342	0.1550	-28	c.-65 others(47): Show c.-65-11825_-65-11798delATATATATATATATATATATATATAT AT	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PIK3C2A_chr11_17081575_17212986	17212933	TGCCTACC others(21): Show TGCCTACCACAGTAGGTTCCACAGAGGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01109.hp1 others(17): Show HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01261.hp1 HG01433.hp1 HG02622.hp1 HG02647.hp1 HG02735.hp1 HG02809.hp1 HG03540.hp1 HG04184.hp2 HG04204.hp2 NA18943.hp1 NA18973.hp2 NA18994.hp2 NA19070.hp2 NA19079.hp1 homoSapiens_chm13v2.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0021 a0001c0001 a0013c0021	a0001c0001t0003 a0013c0021t0014 a0001c0001t0003 a0013c0021t0014	a0001c0001t0003g0009 a0001c0001t0003g0018 a0001c0001t0003g0019 others(17): Show a0001c0001t0003g0009 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0198 a0001c0001t0003g0200 a0013c0021t0014g0002	20	342	0.0585	-28	c.-51 others(39): Show c.-5179_-5152delCTCCTCTGTGGAACCTACTGTGGTAGGC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding		4948		chr11	TogoVar
PIK3C2G_chr12_18256518_18653416	18559799	TATATATA others(21): Show TATATATATATATATATATATATAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0008 a0008	a0008c0051 a0008c0051	a0008c0051t0001 a0008c0051t0001	a0008c0051t0001g0049 a0008c0051t0001g0049	1	176	0.0057	-28	c.359 others(47): Show c.3591-2902_3591-2875delTATATATATATATATATATATAGAGA GA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18559803	TATATATA others(21): Show TATATATATATATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01891.hp1 others(1): Show HG01515.hp1 HG01517.hp1 HG01891.hp1 NA20129.hp2	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0020 a0003c0028 a0007c0007 a0002c0020 a0003c0028 a0007c0007	a0002c0020t0001 a0003c0028t0002 a0007c0007t0002 a0002c0020t0001 a0003c0028t0002 a0007c0007t0002	a0002c0020t0001g0051 a0003c0028t0002g0093 a0007c0007t0002g0004 others(1): Show a0002c0020t0001g0051 a0003c0028t0002g0093 a0007c0007t0002g0004 a0007c0007t0002g0005	4	176	0.0227	-28	c.359 others(47): Show c.3591-2898_3591-2871delTATATATATATATATATAGAGAGAGA GA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18559807	TATATATA others(21): Show TATATATATATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0050 a0004c0005t0002g0050	1	176	0.0057	-28	c.359 others(47): Show c.3591-2894_3591-2867delTATATATATATATAGAGAGAGAGAGA GA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr12	TogoVar

Search by Variant

Search

Search Results (Total: 7045 hits)