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 (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
PIBF1_chr13_72777133_73021461	72904433	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03225.hp1 HG00738.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0250 a0001c0001t0002g0183 a0001c0001t0001g0250 a0001c0001t0002g0183	2	346	0.0058	19	c.148 others(38): Show c.1489-4091_1489-4073dupTTTTTTTTTTTTTTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72949300	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0195	1	346	0.0029	19	c.183 others(40): Show c.1834-15959_1834-15941dupTTTTTTTTTTTTTTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	73001582	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01952.hp2 HG02165.hp1 others(8): Show HG01258.hp2 HG01952.hp2 HG02165.hp1 HG02273.hp2 HG03942.hp1 HG04184.hp1 NA18943.hp2 NA18960.hp2 NA18979.hp1 NA19012.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0091 a0001c0001t0001g0116 a0001c0001t0001g0126 others(8): Show a0001c0001t0001g0091 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0127 a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0154	11	346	0.0318	19	c.222 others(38): Show c.2223+2605_2223+2606insTTTTTTTTTTTTTTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PICALM_chr11_85952175_86074084	85986365	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	358	0.0028	19	c.140 others(38): Show c.1409-2411_1409-2393dupAAAAAAAAAAAAAAAAAAA	PICALM	ENSG00000073921.18	transcript	ENST00000393346.8	protein_coding	13/19			chr11	TogoVar
PICALM_chr11_85952175_86074084	86056134	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01081.hp2 HG01099.hp1 others(3): Show HG01070.hp1 HG01081.hp2 HG01099.hp1 HG02004.hp1 HG03486.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0024 others(3): Show a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0027 a0001c0003t0001g0067	6	358	0.0168	19	c.130 others(38): Show c.130+12516_130+12517insTTTTTTTTTTTTTTTTTTT	PICALM	ENSG00000073921.18	transcript	ENST00000393346.8	protein_coding	1/19			chr11	TogoVar
PID1_chr2_229018973_229276287	229266395	A A	AATTTTAA others(12): Show AATTTTAACTTCAATAGGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02109.hp1 others(14): Show HG01109.hp1 HG01243.hp1 HG02109.hp1 HG02109.hp2 HG02559.hp2 HG02630.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03139.hp1 HG03516.hp2 NA18906.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017	a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0036 others(14): Show a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0235 a0001c0001t0005g0027 a0001c0001t0005g0038 a0001c0001t0006g0040 a0001c0001t0010g0002 a0001c0001t0011g0035 a0001c0001t0016g0142 a0001c0001t0017g0033	17	256	0.0664	19	c.30+ others(34): Show c.30+4600_30+4618dupCTCCTATTGAAGTTAAAAT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229271110	G G	GCTGGGGT others(12): Show GCTGGGGTCCCGCTTTACAT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0002 a0001c0001t0010g0002	1	256	0.0039	19	c.-86 others(26): Show c.-86_-68dupATGTAAAGCGGGACCCCAG	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/3	68		chr2	TogoVar
PIDD1_chr11_794184_810231	795412	C C	CCGCTCAC others(12): Show CCGCTCACGCTCGGGGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01106.hp1 others(8): Show HG00280.hp1 HG00642.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01255.hp1 HG01433.hp2 HG01891.hp1 HG03041.hp2 HG03453.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0021 a0005c0009 a0001c0001 a0001c0021 a0005c0009	a0001c0001t0001 a0001c0021t0001 a0005c0009t0001 a0001c0001t0001 a0001c0021t0001 a0005c0009t0001	a0001c0001t0001g0002 a0001c0021t0001g0067 a0005c0009t0001g0019 others(2): Show a0001c0001t0001g0002 a0001c0021t0001g0067 a0005c0009t0001g0019 a0005c0009t0001g0066 a0005c0009t0001g0069	11	408	0.0270	19	c.38 others(30): Show c.3876_*3894dupTGAGCCCCGAGCGTGAGCG	PIDD1	ENSG00000177595.19	transcript	ENST00000347755.10	protein_coding		3771		chr11	TogoVar
PIDD1_chr11_794184_810231	798233	G G	GCCGCGCT others(12): Show GCCGCGCTCGCCTGCCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 NA18974.hp2 NA19059.hp2 HG01255.hp2 NA18974.hp2 NA19059.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0015 a0002c0002t0001g0001 a0002c0002t0001g0015	3	408	0.0074	19	c.10 others(30): Show c.1055_*1073dupGGCGGGCAGGCGAGCGCGG	PIDD1	ENSG00000177595.19	transcript	ENST00000347755.10	protein_coding		950		chr11	TogoVar
PIDD1_chr11_794184_810231	798331	T T	TTCGGCTC others(12): Show TTCGGCTCCCCCTCCTGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	408	0.0025	19	c.97 others(28): Show c.975_*976insGGCCAGGAGGGGGAGCCGA	PIDD1	ENSG00000177595.19	transcript	ENST00000347755.10	protein_coding		852		chr11	TogoVar
PIGA_chrX_15314456_15340523	15333584	G G	GACAGGAG others(12): Show GACAGGAGAACCGCTTGAAC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	308	0.0033	19	c.-62 others(36): Show c.-62-1593_-62-1592insGTTCAAGCGGTTCTCCTGT	PIGA	ENSG00000165195.16	transcript	ENST00000333590.6	protein_coding	1/5			chrX	TogoVar
PIGB_chr15_55314222_55360648	55353998	T T	TAAAAATA others(12): Show TAAAAATAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02109.hp2 others(14): Show HG01167.hp2 HG01169.hp2 HG02109.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02647.hp1 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0005 a0001c0001t0003g0039 a0001c0001t0003g0040 others(6): Show a0001c0001t0003g0005 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0234 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0004g0139	17	376	0.0452	19	c.133 others(36): Show c.1338-795_1338-794insTAAAAAAAAAAAAAAAAAA	PIGB	ENSG00000069943.10	transcript	ENST00000164305.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIGK_chr1_77083989_77224430	77171436	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18963.hp1 HG01496.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0203 a0001c0001t0005g0209 a0001c0001t0005g0203 a0001c0001t0005g0209	2	366	0.0055	19	c.240 others(36): Show c.240-2060_240-2042dupTTTTTTTTTTTTTTTTTTT	PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding	3/10			chr1	TogoVar
PIGL_chr17_16212210_16331411	16216786	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01123.hp1 HG01168.hp2 others(16): Show HG01074.hp1 HG01123.hp1 HG01168.hp2 HG01433.hp2 HG01975.hp1 HG02148.hp1 HG02258.hp2 HG02280.hp1 HG02735.hp2 HG03098.hp1 HG03209.hp2 HG03704.hp2 HG03927.hp2 NA18747.hp1 NA18980.hp2 NA18982.hp1 NA18995.hp2 NA19057.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 others(16): Show a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0077 a0001c0001t0002g0078 a0001c0001t0003g0127 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0005g0125	19	246	0.0772	19	c.-44 others(28): Show c.-441_-440insAAAAAAAAAAAAAAAAAAA	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding		423		chr17	TogoVar
PIGL_chr17_16212210_16331411	16246672	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01433.hp2 HG02148.hp1 others(3): Show HG01106.hp1 HG01433.hp2 HG02148.hp1 HG02615.hp1 HG02895.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0030 a0001c0001t0003g0138 a0001c0001t0004g0241 others(3): Show a0001c0001t0001g0030 a0001c0001t0003g0138 a0001c0001t0004g0241 a0001c0001t0005g0029 a0001c0001t0005g0125 a0001c0001t0007g0239	6	246	0.0244	19	c.335 others(38): Show c.335+12608_335+12626dupTTTTTTTTTTTTTTTTTTT	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PIGL_chr17_16212210_16331411	16311467	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp2 others(55): Show HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00621.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG02040.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02293.hp1 HG02523.hp1 HG02622.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03490.hp1 HG03492.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18953.hp1 NA18979.hp1 NA19005.hp2 NA19043.hp1 NA19064.hp1 NA19079.hp2 NA19084.hp2 NA19087.hp2 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0042 others(55): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0002g0234	58	246	0.2358	19	c.427 others(36): Show c.427-2066_427-2065insTTTTTTTTTTTTTTTTTTT	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PIGN_chr18_62036164_62192056	62062882	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01255.hp2 NA18943.hp1 others(1): Show HG01071.hp1 HG01255.hp2 NA18943.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0041 a0002c0002t0069 a0002c0002t0070 others(1): Show a0002c0002t0041 a0002c0002t0069 a0002c0002t0070 a0002c0002t0096	a0002c0002t0041g0078 a0002c0002t0069g0013 a0002c0002t0070g0012 others(1): Show a0002c0002t0041g0078 a0002c0002t0069g0013 a0002c0002t0070g0012 a0002c0002t0096g0085	4	342	0.0117	19	c.267 others(38): Show c.2672+9772_2672+9790dupAAAAAAAAAAAAAAAAAAA	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIGV_chr1_26782950_26805659	26804848	A A	AGGAGAGG others(12): Show AGGAGAGGGAGAGGGAGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00673.hp2 HG01070.hp1 others(10): Show HG00280.hp1 HG00673.hp2 HG01070.hp1 HG01256.hp1 HG01258.hp1 HG01516.hp2 HG01981.hp2 HG02132.hp1 HG02132.hp2 HG03041.hp1 NA18978.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0032 a0001c0001t0002g0004 a0001c0001t0002g0037 others(1): Show a0001c0001t0001g0032 a0001c0001t0002g0004 a0001c0001t0002g0037 a0001c0001t0002g0038	13	282	0.0461	19	c.70 others(30): Show c.7004_*7005insGGAGAGGGAGAGGGAGACG	PIGV	ENSG00000060642.12	transcript	ENST00000674202.1	protein_coding		4190		chr1	TogoVar
PIGV_chr1_26782950_26805659	26804861	G G	GGAGACGG others(12): Show GGAGACGGGAGAGGGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02818.hp2 HG02109.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	2	282	0.0071	19	c.70 others(30): Show c.7017_*7018insGAGACGGGAGAGGGAGAGA	PIGV	ENSG00000060642.12	transcript	ENST00000674202.1	protein_coding		4203		chr1	TogoVar
PIGX_chr3_196707377_196741007	196717300	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01516.hp1 HG01934.hp1 others(23): Show HG00558.hp1 HG01516.hp1 HG01934.hp1 HG02040.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02897.hp1 HG02965.hp1 HG03540.hp1 HG03688.hp2 HG03927.hp1 HG04184.hp2 NA18942.hp2 NA18980.hp2 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA19002.hp2 NA19011.hp2 NA19067.hp2 NA19075.hp1 NA19078.hp2 NA19087.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(10): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0042 a0001c0001t0056 a0001c0003t0009 a0002c0004t0006 a0002c0004t0026	a0001c0001t0005g0158 a0001c0001t0006g0162 a0001c0001t0006g0165 others(21): Show a0001c0001t0005g0158 a0001c0001t0006g0162 a0001c0001t0006g0165 a0001c0001t0006g0168 a0001c0001t0007g0152 a0001c0001t0007g0157 a0001c0001t0007g0159 a0001c0001t0008g0146 a0001c0001t0008g0163 a0001c0001t0013g0161 a0001c0001t0014g0167 a0001c0001t0017g0166 a0001c0001t0018g0281 a0001c0001t0018g0282 a0001c0001t0018g0283 a0001c0001t0018g0284 a0001c0001t0018g0296 a0001c0001t0042g0285 a0001c0001t0056g0145 a0001c0003t0009g0022 a0001c0003t0009g0023 a0001c0003t0009g0102 a0002c0004t0006g0164 a0002c0004t0026g0160	26	416	0.0625	19	c.176 others(34): Show c.176+386_176+387insAAAAAAAAAAAAAAAAAAA	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PIGX_chr3_196707377_196741007	196717301	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0238 a0001c0001t0005g0238	1	416	0.0024	19	c.176 others(34): Show c.176+386_176+387insAAAAAAAAAAAAGAAAAAA	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PIGX_chr3_196707377_196741007	196735294	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18942.hp1 NA18942.hp2 NA18990.hp1 others(3): Show NA18942.hp1 NA18942.hp2 NA18990.hp1 NA18993.hp2 NA19005.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0031 a0001c0001t0014g0040 a0001c0001t0014g0167 others(3): Show a0001c0001t0014g0031 a0001c0001t0014g0040 a0001c0001t0014g0167 a0001c0001t0014g0171 a0001c0001t0014g0216 a0001c0001t0014g0240	6	416	0.0144	19	c.14 others(30): Show c.1404_*1422dupAAAAAAAAAAAAAAAAAAA	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	6/6	1423	INFO_REALIGN_3_PRIME	chr3	TogoVar
PIGZ_chr3_196941356_196973833	196960764	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0126 a0010c0019t0001g0126	1	424	0.0024	19	c.-1+ others(34): Show c.-1+7922_-1+7923insCTTTCTTTCTTTCTTTCTT	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	1/2			chr3	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	384	0.0026	19	c.18 others(28): Show c.185_*186insATATATATTTTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	384	0.0026	19	c.18 others(28): Show c.185_*186insATATATATATATATATTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIK3AP1_chr10_96588315_96725514	96629930	A A	AGAAGAAG others(12): Show AGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02818.hp1 HG02976.hp2 others(3): Show HG02615.hp1 HG02818.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0005 a0001c0006 a0002c0005	a0001c0006t0005 a0002c0005t0005 a0001c0006t0005 a0002c0005t0005	a0001c0006t0005g0021 a0001c0006t0005g0024 a0001c0006t0005g0028 others(3): Show a0001c0006t0005g0021 a0001c0006t0005g0024 a0001c0006t0005g0028 a0001c0006t0005g0230 a0002c0005t0005g0086 a0002c0005t0005g0093	6	256	0.0234	19	c.137 others(38): Show c.1376-1438_1376-1437insCTTCTTCTTCTTCTTCTTC	PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	8/16			chr10	TogoVar
PIK3C2G_chr12_18256518_18653416	18292227	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0123 a0003c0002t0001g0123	1	176	0.0057	19	c.919 others(36): Show c.919+1216_919+1217insAAAAAAAAATATATATATA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18303139	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA19060.hp1 HG03490.hp1 NA19060.hp1	a0003 a0004 a0003 a0004	a0003c0002 a0004c0017 a0003c0002 a0004c0017	a0003c0002t0001 a0004c0017t0001 a0003c0002t0001 a0004c0017t0001	a0003c0002t0001g0092 a0004c0017t0001g0145 a0003c0002t0001g0092 a0004c0017t0001g0145	2	176	0.0114	19	c.103 others(38): Show c.1034+9126_1034+9127insCTTTCTTTCTTTCTTTCTT	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3CB_chr3_138647698_138839928	138757629	A A	AGGGGAGG others(12): Show AGGGGAGGGGAAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp1 NA18906.hp1 HG02280.hp1 HG02922.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0014 a0001c0001t0007g0013 a0001c0001t0007g0015 a0001c0001t0001g0014 a0001c0001t0007g0013 a0001c0001t0007g0015	3	206	0.0146	19	c.171 others(36): Show c.171+1525_171+1543dupCTCCTCCCTTCCCCTCCCC	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	3/23			chr3	TogoVar
PIK3R1_chr5_68210756_68306821	68217653	T T	TGCGCGCG others(12): Show TGCGCGCGCGCAGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0250 a0002c0003t0020g0250	1	308	0.0033	19	c.-38 others(38): Show c.-387+1713_-387+1714insCAGCGCGCGCGCGCGCGCG	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R3_chr1_46035140_46137629	46110422	T T	TGAGCCAC others(12): Show TGAGCCACCACGCCCAGCCC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	1	318	0.0031	19	c.106 others(38): Show c.106+21406_106+21424dupGGGCTGGGCGTGGTGGCTC	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	1/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46115218	T T	TACCCTTC others(12): Show TACCCTTCATCAAACCATGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18959.hp1 HG00544.hp1 NA18959.hp1	a0000 a0001 a0000 a0001	a0000c0006 a0001c0001 a0000c0006 a0001c0001	a0000c0006t0005 a0001c0001t0018 a0000c0006t0005 a0001c0001t0018	a0000c0006t0005g0014 a0001c0001t0018g0059 a0000c0006t0005g0014 a0001c0001t0018g0059	2	318	0.0063	19	c.106 others(38): Show c.106+16610_106+16628dupGCATGGTTTGATGAAGGGT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	1/9			chr1	TogoVar
PILRA_chr7_100368487_100405096	100397311	G G	GGGGATGG others(12): Show GGGGATGGGAGGGGCAGGAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	364	0.0028	19	c.674 others(34): Show c.674-567_674-549dupGGGATGGGAGGGGCAGGAC	PILRA	ENSG00000085514.16	transcript	ENST00000198536.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
PIM3_chr22_49955772_49969072	49960485	T T	TGCGCGGA others(12): Show TGCGCGGAGTGAGAGCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	426	0.0024	19	c.-46 others(28): Show c.-463_-462insGCGCGGAGTGAGAGCGTGA	PIM3	ENSG00000198355.5	transcript	ENST00000360612.5	protein_coding		286		chr22	TogoVar
PIM3_chr22_49955772_49969072	49967817	C C	CAGAGGGT others(12): Show CAGAGGGTGAGGAGGCCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(315): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0002c0002 a0002c0004 a0003c0006 a0004c0007 a0005c0011 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0023 a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 a0001c0003t0009 a0001c0003t0013 a0001c0003t0017 a0001c0003t0019 a0001c0003t0020 a0001c0005t0001 a0001c0010t0003 a0001c0012t0001 a0002c0002t0002 a0002c0004t0002 a0003c0006t0001 a0004c0007t0001 a0005c0011t0001 a0006c0009t0018	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0016 a0001c0001t0004g0002 a0001c0001t0005g0001 a0001c0001t0007g0001 a0001c0001t0011g0002 a0001c0001t0014g0006 a0001c0001t0015g0032 a0001c0001t0016g0001 a0001c0001t0021g0001 a0001c0001t0023g0002 a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0017 a0001c0003t0001g0020 a0001c0003t0001g0026 a0001c0003t0003g0030 a0001c0003t0006g0002 a0001c0003t0009g0002 a0001c0003t0013g0002 a0001c0003t0017g0002 a0001c0003t0019g0022 a0001c0003t0020g0002 a0001c0005t0001g0001 a0001c0005t0001g0005 a0001c0005t0001g0028 a0001c0005t0001g0033 a0001c0010t0003g0007 a0001c0012t0001g0001 a0002c0002t0002g0003 a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0004t0002g0003 a0003c0006t0001g0005 a0004c0007t0001g0001 a0005c0011t0001g0007 a0006c0009t0018g0001	318	426	0.7465	19	c.46 others(30): Show c.4690_*4691insAGAGGGTGAGGAGGCCAGG	PIM3	ENSG00000198355.5	transcript	ENST00000360612.5	protein_coding		3746		chr22	TogoVar
PIMREG_chr17_6439455_6456469	6448282	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	312	0.0032	19	c.590 others(34): Show c.590+526_590+544dupAAAAAAAAAAAAAAAAAAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
PIMREG_chr17_6439455_6456469	6452496	G G	GGGGTCAC others(12): Show GGGGTCACAGAACTACTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	312	0.0032	19	c.21 others(30): Show c.2149_*2150insGGGTCACAGAACTACTCAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		1028		chr17	TogoVar
PIN1_chr19_9830318_9854689	9831134	T T	TCTTGAAC others(12): Show TCTTGAACTCCTGACCTCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	422	0.0024	19	c.-42 others(30): Show c.-4211_-4210insCTTGAACTCCTGACCTCAG	PIN1	ENSG00000127445.14	transcript	ENST00000247970.9	protein_coding		4183		chr19	TogoVar
PINK1_chr1_20628458_20656511	20651801	T T	TTTTTTTT others(12): Show TTTTTTTTATTTATTTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0021 a0002c0002t0003g0021	1	458	0.0022	19	c.11 others(30): Show c.1110_*1111insTTTTTTTATTTATTTATTA	PINK1	ENSG00000158828.8	transcript	ENST00000321556.5	protein_coding		291		chr1	TogoVar
PIP4K2A_chr10_22529854_22719578	22536720	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0052 a0002c0003t0052	a0002c0003t0052g0192 a0002c0003t0052g0192	1	206	0.0049	19	c.46 others(28): Show c.462_*480dupGTTTTTTTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	10/10	480		chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22536724	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAACAAAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG01255.hp2 HG02896.hp1 others(3): Show HG00140.hp2 HG01255.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp1 NA20752.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0044 a0002c0003t0007 a0002c0003t0044	a0002c0003t0007g0105 a0002c0003t0007g0106 a0002c0003t0007g0119 others(3): Show a0002c0003t0007g0105 a0002c0003t0007g0106 a0002c0003t0007g0119 a0002c0003t0007g0184 a0002c0003t0007g0187 a0002c0003t0044g0107	6	206	0.0291	19	c.47 others(28): Show c.476_*477insGTTTTGTTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	10/10	476		chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22536725	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAACAAAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(23): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01261.hp1 HG02148.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG06807.hp1 NA18747.hp1 NA18974.hp1 NA18974.hp2 NA18984.hp1 NA18984.hp2 NA19009.hp2 NA19079.hp2 NA19088.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0006 a0002c0003 a0002c0004 a0002c0006	a0002c0003t0003 a0002c0003t0023 a0002c0004t0003 others(3): Show a0002c0003t0003 a0002c0003t0023 a0002c0004t0003 a0002c0004t0048 a0002c0004t0049 a0002c0006t0003	a0002c0003t0003g0112 a0002c0003t0003g0113 a0002c0003t0003g0116 others(23): Show a0002c0003t0003g0112 a0002c0003t0003g0113 a0002c0003t0003g0116 a0002c0003t0003g0117 a0002c0003t0003g0138 a0002c0003t0003g0144 a0002c0003t0003g0147 a0002c0003t0003g0150 a0002c0003t0003g0154 a0002c0003t0003g0183 a0002c0003t0023g0111 a0002c0003t0023g0141 a0002c0004t0003g0012 a0002c0004t0003g0060 a0002c0004t0003g0061 a0002c0004t0003g0067 a0002c0004t0003g0068 a0002c0004t0003g0069 a0002c0004t0048g0066 a0002c0004t0049g0058 a0002c0006t0003g0002 a0002c0006t0003g0003 a0002c0006t0003g0004 a0002c0006t0003g0005 a0002c0006t0003g0007 a0002c0006t0003g0008	26	206	0.1262	19	c.47 others(28): Show c.475_*476insGTTTTGTTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	10/10	475		chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22536725	A A	AAAAAAAA others(12): Show AAAAAAAAACAAAACAAAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0047 a0002c0003t0047	a0002c0003t0047g0153 a0002c0003t0047g0153	1	206	0.0049	19	c.47 others(28): Show c.475_*476insGTTTTGTTTTGTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	10/10	475		chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22536729	A A	AAAAAAAA others(12): Show AAAAAAAAACAAAACAAAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0046 a0002c0003t0046	a0002c0003t0046g0096 a0002c0003t0046g0096	1	206	0.0049	19	c.47 others(28): Show c.471_*472insGTTTTGTTTTGTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	10/10	471		chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22536730	A A	AAAAAAAA others(12): Show AAAAAAAAACAAAACAAAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0045 a0002c0004t0045	a0002c0004t0045g0063 a0002c0004t0045g0063	1	206	0.0049	19	c.47 others(28): Show c.470_*471insGTTTTGTTTTGTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	10/10	470		chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22596205	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0025 a0002c0004t0025	a0002c0004t0025g0087 a0002c0004t0025g0087	1	206	0.0049	19	c.340 others(36): Show c.340-4443_340-4425dupTTTTTTTTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	3/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22601130	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0048 a0002c0004t0048	a0002c0004t0048g0066 a0002c0004t0048g0066	1	206	0.0049	19	c.339 others(36): Show c.339+6778_339+6796dupTTTTTTTTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	3/9			chr10	TogoVar
PIP4K2C_chr12_57586192_57608418	57590087	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG02615.hp2 others(6): Show HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG03098.hp2 HG03453.hp1 NA18950.hp1 NA19030.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 a0001c0001 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0002c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0060 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0060 a0001c0001t0002g0042 a0001c0001t0002g0129 a0001c0006t0001g0043 a0002c0004t0001g0128	9	386	0.0233	19	c.-12 others(30): Show c.-1203_-1202insTTTTTTTTTTTTTTTTTTT	PIP4K2C	ENSG00000166908.18	transcript	ENST00000354947.10	protein_coding		1104		chr12	TogoVar
PIP5K1A_chr1_151193552_151254531	151251260	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02129.hp1 HG02976.hp1 others(7): Show HG02083.hp1 HG02129.hp1 HG02976.hp1 HG03209.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 NA18964.hp1 NA19060.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0151 a0001c0001t0001g0216 a0001c0001t0001g0229 others(7): Show a0001c0001t0001g0151 a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0001g0239 a0001c0001t0001g0282 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0301 a0001c0001t0001g0308 a0001c0003t0001g0002	10	334	0.0299	19	c.33 others(30): Show c.3395_*3396insAAAAAAAAAAAAAAAAAAA	PIP5K1A	ENSG00000143398.20	transcript	ENST00000368888.9	protein_coding		1730		chr1	TogoVar
PIP5K1B_chr9_68700240_69014176	68754175	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03225.hp1 HG03831.hp1 others(1): Show HG01243.hp2 HG03225.hp1 HG03831.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0002g0143 a0001c0001t0002g0219 others(1): Show a0001c0001t0001g0006 a0001c0001t0002g0143 a0001c0001t0002g0219 a0001c0002t0001g0106	4	220	0.0182	19	c.-86 others(38): Show c.-86+11530_-86+11531insTTTTTTTTTTTTTTTTTTT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr9	TogoVar

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