JoGo: Joint Open Genome and Omics Platform

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
PIAS1_chr15_68049315_68198847	68050434	T T	TATATATA others(23): Show TATATATATATATACGTATATATATATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG03453.hp2 others(1): Show HG02451.hp1 HG02622.hp1 HG03453.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0023 a0001c0001t0001g0073 a0002c0004t0001g0074 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0073 a0002c0004t0001g0074 a0002c0004t0001g0075	4	260	0.0154	30	c.-38 others(41): Show c.-3893_-3892insATATATATATATACGTATATATATATATTC	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding		3880		chr15	TogoVar
PIAS1_chr15_68049315_68198847	68088176	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	260	0.0039	30	c.469 others(47): Show c.469+1427_469+1428insGTATATATATATATATATATATATATAT AT	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp1 HG01884.hp1 HG02970.hp2 HG01123.hp1 HG01884.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0225 a0001c0001t0232 a0001c0003t0219 a0001c0001t0225 a0001c0001t0232 a0001c0003t0219	a0001c0001t0225g0104 a0001c0001t0232g0085 a0001c0003t0219g0119 a0001c0001t0225g0104 a0001c0001t0232g0085 a0001c0003t0219g0119	3	322	0.0093	30	c.50 others(41): Show c.5049_*5050insAATATATATATATATATATATATATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG03831.hp2 NA18960.hp1 HG02280.hp1 HG03831.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0136 a0001c0001t0230 a0001c0001t0252 a0001c0001t0136 a0001c0001t0230 a0001c0001t0252	a0001c0001t0136g0277 a0001c0001t0230g0038 a0001c0001t0252g0319 a0001c0001t0136g0277 a0001c0001t0230g0038 a0001c0001t0252g0319	3	322	0.0093	30	c.50 others(41): Show c.5049_*5050insAAAATATATATATATATATATATATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp1 NA21309.hp2 HG01516.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0163 a0001c0001t0044 a0001c0001t0163	a0001c0001t0044g0057 a0001c0001t0163g0035 a0001c0001t0044g0057 a0001c0001t0163g0035	2	322	0.0062	30	c.50 others(41): Show c.5049_*5050insAAAAAATATATATATATATATATATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIBF1_chr13_72777133_73021461	72844728	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	346	0.0029	30	c.122 others(49): Show c.1224-9286_1224-9257dupACACACACACACACACACACACACAC ACAC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72902006	A A	ATATGTGT others(23): Show ATATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	346	0.0029	30	c.148 others(49): Show c.1489-6524_1489-6523insATGTGTGTGTGTGTGTGTGTGTGTGT GTGT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72902006	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18995.hp2 NA19004.hp1 NA18970.hp2 NA18995.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0266 a0001c0001t0001g0328 a0001c0001t0001g0248 a0001c0001t0001g0266 a0001c0001t0001g0328	3	346	0.0087	30	c.148 others(49): Show c.1489-6508_1489-6507insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72904433	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01993.hp1 others(8): Show HG00639.hp2 HG01081.hp1 HG01993.hp1 HG02004.hp1 HG03704.hp2 NA18612.hp1 NA18952.hp1 NA18968.hp2 NA18972.hp2 NA19060.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0136 others(8): Show a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0136 a0001c0001t0001g0243 a0001c0001t0001g0286 a0001c0001t0001g0320 a0001c0001t0001g0325 a0001c0001t0002g0106 a0001c0001t0002g0145 a0001c0001t0002g0161 a0001c0001t0002g0172	11	346	0.0318	30	c.148 others(49): Show c.1489-4073_1489-4072insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72927996	C C	CATATATA others(23): Show CATATATATATACACACATATATATATACAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0001 a0002c0012t0002g0001	1	346	0.0029	30	c.173 others(49): Show c.1731-3160_1731-3159insTACACACATATATATATACATATATA TATA	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72928028	T T	TATATATA others(23): Show TATATATATATACATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03209.hp1 HG01243.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0195 a0001c0001t0003g0196	2	346	0.0058	30	c.173 others(49): Show c.1731-3126_1731-3125insCATATATACATATATATACATATATA TATA	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72931718	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19083.hp1 HG03041.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0018 a0002c0002t0003g0045 a0002c0002t0003g0018 a0002c0002t0003g0045	2	346	0.0058	30	c.183 others(47): Show c.1833+476_1833+477insATATATATATATATATATATATATATAT AT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PICALM_chr11_85952175_86074084	85986365	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	358	0.0028	30	c.140 others(49): Show c.1409-2422_1409-2393dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	PICALM	ENSG00000073921.18	transcript	ENST00000393346.8	protein_coding	13/19			chr11	TogoVar
PID1_chr2_229018973_229276287	229114119	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTTTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	256	0.0039	30	c.177 others(49): Show c.177+41698_177+41699insAAGAGAGAGAGAGAGAAAGAGAGAGA GAGA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229145155	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTATATACATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	256	0.0039	30	c.177 others(49): Show c.177+10662_177+10663insTATATATATATATGTATATACACACA CACA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229184820	A A	ATATATAT others(23): Show ATATATATATCCCGTATATATATATATCCCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(35): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01257.hp1 HG01361.hp2 HG02083.hp2 HG02148.hp2 HG02257.hp1 HG02630.hp1 HG02886.hp2 HG03041.hp1 HG03239.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18942.hp2 NA18944.hp1 NA18948.hp2 NA18951.hp2 NA18959.hp2 NA18966.hp2 NA18986.hp2 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19011.hp2 NA19066.hp2 NA19077.hp2 NA19081.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0001t0028 a0001c0002t0018	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 others(35): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0063 a0001c0001t0002g0116 a0001c0001t0002g0156 a0001c0001t0002g0182 a0001c0001t0002g0205 a0001c0001t0002g0224 a0001c0001t0003g0073 a0001c0001t0003g0124 a0001c0001t0003g0161 a0001c0001t0003g0178 a0001c0001t0003g0203 a0001c0001t0003g0234 a0001c0001t0004g0252 a0001c0001t0019g0177 a0001c0001t0028g0256 a0001c0002t0018g0069	38	256	0.1484	30	c.31- others(47): Show c.31-28857_31-28856insCGGGATATATATATATACGGGATATATA TA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229184861	G G	GTATATAT others(23): Show GTATATATATATCCCGTATATATATATCCCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03516.hp2 HG02109.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0037 a0001c0001t0003g0034 a0001c0001t0001g0037 a0001c0001t0003g0034	2	256	0.0078	30	c.31- others(47): Show c.31-28898_31-28897insTGGGATATATATATACGGGATATATATA TA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PIEZO1_chr16_88710338_88790220	88741806	G G	GCAGGTGC others(23): Show GCAGGTGCGGGTGGGAGCGTGGATGGGTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp1 HG02280.hp1 others(7): Show HG01167.hp1 HG02109.hp1 HG02280.hp1 HG02486.hp1 HG02622.hp2 HG02896.hp1 HG02965.hp1 HG03041.hp2 HG06807.hp1 NA19043.hp2	a0014 a0016 a0064 others(3): Show a0014 a0016 a0064 a0076 a0082 a0087	a0014c0010 a0016c0019 a0064c0096 others(3): Show a0014c0010 a0016c0019 a0064c0096 a0076c0117 a0082c0113 a0087c0074	a0014c0010t0007 a0014c0010t0024 a0016c0019t0002 others(5): Show a0014c0010t0007 a0014c0010t0024 a0016c0019t0002 a0016c0019t0006 a0064c0096t0002 a0076c0117t0002 a0082c0113t0001 a0087c0074t0001	a0014c0010t0007g0028 a0014c0010t0007g0029 a0014c0010t0024g0280 others(7): Show a0014c0010t0007g0028 a0014c0010t0007g0029 a0014c0010t0024g0280 a0016c0019t0002g0178 a0016c0019t0002g0179 a0016c0019t0006g0018 a0064c0096t0002g0131 a0076c0117t0002g0177 a0082c0113t0001g0223 a0087c0074t0001g0274	10	282	0.0355	30	c.327 others(45): Show c.327-191_327-190insGAGACCCATCCACGCTCCCACCCGCACCTG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	4/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88741823	T T	TGTGGATG others(23): Show TGTGGATGGGTCTCCAGGTGCGGGTGGGAGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(86): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG03098.hp1 HG03139.hp2 HG03516.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp2 NA18954.hp1 NA18960.hp1 NA18962.hp1 NA18967.hp2 NA18970.hp1 NA18980.hp1 NA18983.hp1 NA18990.hp2 NA18999.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 others(19): Show a0001 a0002 a0008 a0013 a0014 a0024 a0025 a0026 a0028 a0052 a0053 a0055 a0056 a0057 a0059 a0060 a0061 a0069 a0072 a0078 a0088 a0090	a0001c0001 a0001c0002 a0001c0008 others(30): Show a0001c0001 a0001c0002 a0001c0008 a0001c0049 a0001c0097 a0001c0102 a0001c0108 a0002c0006 a0002c0009 a0002c0016 a0002c0044 a0008c0013 a0008c0063 a0008c0126 a0013c0012 a0014c0010 a0024c0023 a0025c0024 a0026c0029 a0028c0032 a0052c0061 a0053c0060 a0055c0050 a0056c0107 a0057c0100 a0059c0103 a0060c0099 a0061c0075 a0069c0093 a0072c0132 a0078c0114 a0088c0073 a0090c0129	a0001c0001t0001 a0001c0001t0021 a0001c0002t0001 others(34): Show a0001c0001t0001 a0001c0001t0021 a0001c0002t0001 a0001c0002t0018 a0001c0008t0001 a0001c0008t0025 a0001c0049t0001 a0001c0097t0001 a0001c0102t0001 a0001c0108t0001 a0002c0006t0001 a0002c0009t0001 a0002c0016t0001 a0002c0044t0001 a0008c0013t0005 a0008c0063t0004 a0008c0126t0004 a0013c0012t0001 a0014c0010t0007 a0024c0023t0001 a0025c0024t0002 a0026c0029t0001 a0026c0029t0016 a0028c0032t0001 a0052c0061t0001 a0053c0060t0001 a0055c0050t0001 a0056c0107t0001 a0057c0100t0008 a0059c0103t0001 a0060c0099t0001 a0061c0075t0001 a0069c0093t0001 a0072c0132t0001 a0078c0114t0001 a0088c0073t0001 a0090c0129t0015	a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0145 others(86): Show a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0229 a0001c0001t0001g0247 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0271 a0001c0001t0021g0256 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0052 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0102 a0001c0002t0001g0106 a0001c0002t0001g0110 a0001c0002t0001g0116 a0001c0002t0018g0063 a0001c0008t0001g0121 a0001c0008t0001g0125 a0001c0008t0025g0282 a0001c0049t0001g0094 a0001c0097t0001g0148 a0001c0102t0001g0248 a0001c0108t0001g0137 a0002c0006t0001g0157 a0002c0006t0001g0195 a0002c0006t0001g0245 a0002c0009t0001g0040 a0002c0009t0001g0056 a0002c0009t0001g0112 a0002c0016t0001g0260 a0002c0044t0001g0066 a0008c0013t0005g0007 a0008c0013t0005g0008 a0008c0013t0005g0009 a0008c0013t0005g0010 a0008c0063t0004g0115 a0008c0126t0004g0270 a0013c0012t0001g0231 a0013c0012t0001g0232 a0014c0010t0007g0027 a0024c0023t0001g0089 a0024c0023t0001g0090 a0025c0024t0002g0117 a0025c0024t0002g0118 a0026c0029t0001g0210 a0026c0029t0016g0031 a0028c0032t0001g0238 a0052c0061t0001g0103 a0053c0060t0001g0039 a0055c0050t0001g0053 a0056c0107t0001g0234 a0057c0100t0008g0278 a0059c0103t0001g0253 a0060c0099t0001g0242 a0061c0075t0001g0187 a0069c0093t0001g0174 a0072c0132t0001g0122 a0078c0114t0001g0233 a0088c0073t0001g0218 a0090c0129t0015g0032	89	282	0.3156	30	c.327 others(45): Show c.327-208_327-207insGCTCCCACCCGCACCTGGAGACCCATCCAC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	4/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88741853	T T	CGTGGATG others(23): Show CGTGGATGGGTCTCCAGGTGCGGGTGGGAGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	282	0.0036	30	c.326 others(45): Show c.326+200_326+201insCTCCCACCCGCACCTGGAGACCCATCCACG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	4/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88741883	T T	TGTGGATG others(23): Show TGTGGATGGGTCTCCAGGTGCGGGTGAGAGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0063 a0063	a0063c0109 a0063c0109	a0063c0109t0001 a0063c0109t0001	a0063c0109t0001g0138 a0063c0109t0001g0138	1	282	0.0036	30	c.326 others(45): Show c.326+169_326+170insGCTCTCACCCGCACCTGGAGACCCATCCAC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	4/50			chr16	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACATA others(23): Show CACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19240.hp2 HG03098.hp2 NA19240.hp2	a0001 a0018 a0001 a0018	a0001c0024 a0018c0030 a0001c0024 a0018c0030	a0001c0024t0001 a0018c0030t0001 a0001c0024t0001 a0018c0030t0001	a0001c0024t0001g0156 a0018c0030t0001g0079 a0001c0024t0001g0156 a0018c0030t0001g0079	2	158	0.0127	30	c.719 others(47): Show c.7191-400_7191-399insATATATATATATATATATATATATATGT GT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10720234	G G	GCGTATAT others(23): Show GCGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp2 HG02976.hp2 others(4): Show HG02622.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03579.hp2 NA19043.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0025	a0001c0003 a0002c0018 a0002c0076 others(2): Show a0001c0003 a0002c0018 a0002c0076 a0004c0075 a0025c0053	a0001c0003t0001 a0001c0003t0002 a0002c0018t0001 others(4): Show a0001c0003t0001 a0001c0003t0002 a0002c0018t0001 a0002c0018t0002 a0002c0076t0002 a0004c0075t0002 a0025c0053t0002	a0001c0003t0001g0118 a0001c0003t0002g0029 a0002c0018t0001g0026 others(4): Show a0001c0003t0001g0118 a0001c0003t0002g0029 a0002c0018t0001g0026 a0002c0018t0002g0068 a0002c0076t0002g0111 a0004c0075t0002g0072 a0025c0053t0002g0067	7	158	0.0443	30	c.503 others(49): Show c.5030-1976_5030-1975insTATATATATATATATATATATATATA TACG	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10720234	G G	GCGTGTAT others(23): Show GCGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0002 a0001c0047t0002	a0001c0047t0002g0144 a0001c0047t0002g0144	1	158	0.0063	30	c.503 others(49): Show c.5030-1976_5030-1975insTATATATATATATATATATATATATA CACG	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10844422	G G	GATAAAAT others(23): Show GATAAAATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02056.hp1 HG02257.hp2 others(6): Show HG00558.hp2 HG02056.hp1 HG02257.hp2 HG02572.hp1 HG02647.hp2 HG03041.hp2 HG03471.hp2 NA18970.hp1 NA19240.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0008 a0012 a0019	a0001c0003 a0001c0006 a0002c0023 others(5): Show a0001c0003 a0001c0006 a0002c0023 a0004c0005 a0005c0080 a0008c0070 a0012c0064 a0019c0029	a0001c0003t0002 a0001c0003t0003 a0001c0006t0001 others(6): Show a0001c0003t0002 a0001c0003t0003 a0001c0006t0001 a0002c0023t0002 a0004c0005t0002 a0005c0080t0002 a0008c0070t0002 a0012c0064t0002 a0019c0029t0002	a0001c0003t0002g0147 a0001c0003t0003g0102 a0001c0006t0001g0148 others(6): Show a0001c0003t0002g0147 a0001c0003t0003g0102 a0001c0006t0001g0148 a0002c0023t0002g0103 a0004c0005t0002g0006 a0005c0080t0002g0089 a0008c0070t0002g0127 a0012c0064t0002g0059 a0019c0029t0002g0116	9	158	0.0570	30	c.917 others(49): Show c.917+10930_917+10931insTTTATTTTATTTTATTTTATTTTATT TTAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	7/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886319	C C	CATACATA others(23): Show CATACATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03130.hp1 HG02486.hp2 HG03130.hp1	a0002 a0008 a0002 a0008	a0002c0076 a0008c0034 a0002c0076 a0008c0034	a0002c0076t0002 a0008c0034t0002 a0002c0076t0002 a0008c0034t0002	a0002c0076t0002g0111 a0008c0034t0002g0069 a0002c0076t0002g0111 a0008c0034t0002g0069	2	158	0.0127	30	c.330 others(49): Show c.330-14905_330-14904insATATATATATATATATATATATGTAT GTAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886343	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0006 a0002c0001 a0006c0004 a0001c0006 a0002c0001 a0006c0004	a0001c0006t0001 a0002c0001t0002 a0006c0004t0003 a0001c0006t0001 a0002c0001t0002 a0006c0004t0003	a0001c0006t0001g0115 a0002c0001t0002g0151 a0006c0004t0003g0149 a0001c0006t0001g0115 a0002c0001t0002g0151 a0006c0004t0003g0149	3	158	0.0190	30	c.330 others(49): Show c.330-14929_330-14928insGTGTGTATATATATATATATATATAT ATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886343	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0003 a0001c0059t0003	a0001c0059t0003g0110 a0001c0059t0003g0110	1	158	0.0063	30	c.330 others(49): Show c.330-14929_330-14928insGTATATATATATATATATATATATAT ATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886390	A A	ACACACAC others(23): Show ACACACACATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02809.hp1 HG02896.hp2 others(2): Show HG02129.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG03225.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0006 a0002c0001 a0006c0004 a0001c0006 a0002c0001 a0006c0004	a0001c0006t0001 a0002c0001t0001 a0002c0001t0002 others(1): Show a0001c0006t0001 a0002c0001t0001 a0002c0001t0002 a0006c0004t0003	a0001c0006t0001g0115 a0002c0001t0001g0087 a0002c0001t0001g0117 others(2): Show a0001c0006t0001g0115 a0002c0001t0001g0087 a0002c0001t0001g0117 a0002c0001t0002g0151 a0006c0004t0003g0149	5	158	0.0317	30	c.330 others(49): Show c.330-14976_330-14975insCACACACACACACACATATATATGTG TGTG	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0120 a0006c0004t0001g0120	1	158	0.0063	30	c.330 others(49): Show c.330-15073_330-15072insATATATATATATATATATATATATAT ATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(23): Show CATATATATATATATGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02257.hp2 NA18941.hp2 others(2): Show HG02040.hp1 HG02257.hp2 NA18941.hp2 NA18998.hp1 NA19011.hp2	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0015	a0001c0006 a0002c0001 a0013c0027 others(1): Show a0001c0006 a0002c0001 a0013c0027 a0015c0025	a0001c0006t0001 a0002c0001t0005 a0013c0027t0002 others(1): Show a0001c0006t0001 a0002c0001t0005 a0013c0027t0002 a0015c0025t0001	a0001c0006t0001g0148 a0002c0001t0005g0094 a0013c0027t0002g0017 others(2): Show a0001c0006t0001g0148 a0002c0001t0005g0094 a0013c0027t0002g0017 a0013c0027t0002g0048 a0015c0025t0001g0082	5	158	0.0317	30	c.330 others(49): Show c.330-15073_330-15072insATATATATATATATACATATATATAT ATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIGN_chr18_62036164_62192056	62062882	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18963.hp1 HG03516.hp2 NA18963.hp1	a0001 a0004 a0001 a0004	a0001c0010 a0004c0007 a0001c0010 a0004c0007	a0001c0010t0019 a0004c0007t0121 a0001c0010t0019 a0004c0007t0121	a0001c0010t0019g0049 a0004c0007t0121g0203 a0001c0010t0019g0049 a0004c0007t0121g0203	2	342	0.0059	30	c.267 others(49): Show c.2672+9761_2672+9790dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIGN_chr18_62036164_62192056	62125048	A A	ATTTGTAC others(23): Show ATTTGTACATACATGTATATAAATATACATG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp1 HG03130.hp2 others(2): Show HG01081.hp2 HG02055.hp1 HG03130.hp2 HG03195.hp2 NA19083.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0085 a0003c0004t0006 a0003c0004t0020 others(1): Show a0002c0002t0085 a0003c0004t0006 a0003c0004t0020 a0003c0004t0106	a0002c0002t0085g0096 a0003c0004t0006g0052 a0003c0004t0006g0141 others(2): Show a0002c0002t0085g0096 a0003c0004t0006g0052 a0003c0004t0006g0141 a0003c0004t0020g0111 a0003c0004t0106g0112	5	342	0.0146	30	c.117 others(51): Show c.1173-10439_1173-10410dupCATGTATATTTATATACATGTATG TACAAA	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	14/30			chr18	TogoVar
PIGN_chr18_62036164_62192056	62125157	T T	TGTTTGTA others(23): Show TGTTTGTACATATGTGTATATAAATATACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02258.hp1 others(12): Show HG01884.hp2 HG01891.hp2 HG02258.hp1 HG02647.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03540.hp1 HG06807.hp1 NA18522.hp1 NA18941.hp1 NA18964.hp1 NA18973.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0036 a0001c0003t0038 a0001c0003t0072 others(10): Show a0001c0003t0036 a0001c0003t0038 a0001c0003t0072 a0001c0003t0073 a0001c0003t0074 a0001c0003t0075 a0001c0003t0109 a0001c0003t0111 a0001c0003t0112 a0001c0003t0113 a0002c0002t0019 a0002c0002t0042 a0002c0002t0088	a0001c0003t0036g0022 a0001c0003t0036g0030 a0001c0003t0038g0024 others(12): Show a0001c0003t0036g0022 a0001c0003t0036g0030 a0001c0003t0038g0024 a0001c0003t0038g0025 a0001c0003t0072g0026 a0001c0003t0073g0031 a0001c0003t0074g0029 a0001c0003t0075g0023 a0001c0003t0109g0069 a0001c0003t0111g0032 a0001c0003t0112g0034 a0001c0003t0113g0033 a0002c0002t0019g0095 a0002c0002t0042g0089 a0002c0002t0088g0088	15	342	0.0439	30	c.117 others(51): Show c.1173-10548_1173-10519dupGTGTATATTTATATACACATATGT ACAAAC	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	14/30			chr18	TogoVar
PIGS_chr17_28548387_28576524	28554794	T T	TGTAAAAT others(23): Show TGTAAAATTCATCAAATTGCACATTGAAATG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0014 a0005c0006t0014	a0005c0006t0014g0146 a0005c0006t0014g0146	1	330	0.0030	30	c.139 others(45): Show c.1392+56_1392+57insCATTTCAATGTGCAATTTGATGAATTTTAC	PIGS	ENSG00000087111.22	transcript	ENST00000308360.8	protein_coding	11/11			chr17	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	30	c.18 others(39): Show c.185_*186insATATATATATATATATATTTTTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 NA18972.hp1 NA18994.hp2 HG02273.hp2 NA18972.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0111 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0111	3	384	0.0078	30	c.18 others(39): Show c.185_*186insATATATATATATATATATATTTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18983.hp1 NA19072.hp1 NA18965.hp1 NA18983.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	3	384	0.0078	30	c.18 others(39): Show c.185_*186insATATATATATATATATATATATTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(23): Show AAAAAAAATAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	384	0.0026	30	c.18 others(39): Show c.185_*186insATATATATATATATATATATTTATTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG03579.hp1 NA18962.hp2 HG00733.hp1 HG03579.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0061 a0001c0001t0001g0002 a0001c0001t0001g0061	3	384	0.0078	30	c.18 others(39): Show c.185_*186insATATATATATATATATATATATATTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	30	c.18 others(39): Show c.185_*186insATATATATATATATATATATATATATTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIK3AP1_chr10_96588315_96725514	96711739	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	256	0.0039	30	c.14- others(45): Show c.14-1786_14-1757dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	1/16			chr10	TogoVar
PIK3C2B_chr1_204417633_204499805	204493524	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	302	0.0033	30	c.-85 others(45): Show c.-85+802_-85+831dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIK3C2G_chr12_18256518_18653416	18559821	T T	TATATATA others(23): Show TATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0048 a0006c0011t0001g0048	1	176	0.0057	30	c.359 others(49): Show c.3591-2881_3591-2880insTATATATATATATATAGAGAGAGAGA GAGA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3C3_chr18_41950234_42092830	42009616	C C	CTACATTA others(23): Show CTACATTATGTAATGTACATTATGTAATGCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00733.hp2 others(20): Show HG00438.hp2 HG00558.hp1 HG00733.hp2 HG01081.hp1 HG01255.hp1 HG01978.hp1 HG02004.hp2 HG02027.hp2 HG02148.hp2 HG02896.hp2 HG02970.hp1 HG03239.hp2 NA18939.hp2 NA18954.hp1 NA18956.hp2 NA18964.hp2 NA18977.hp2 NA18999.hp2 NA19005.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0031 a0001c0003t0003 a0001c0003t0004	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0003g0073 others(20): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0003g0073 a0001c0001t0003g0089 a0001c0001t0003g0103 a0001c0001t0011g0099 a0001c0001t0011g0100 a0001c0001t0011g0102 a0001c0001t0011g0106 a0001c0001t0017g0030 a0001c0001t0017g0098 a0001c0001t0017g0101 a0001c0001t0017g0117 a0001c0001t0018g0093 a0001c0001t0018g0094 a0001c0001t0018g0097 a0001c0001t0031g0095 a0001c0001t0031g0096 a0001c0003t0003g0317 a0001c0003t0004g0313 a0001c0003t0004g0314 a0001c0003t0004g0315 a0001c0003t0004g0316	23	340	0.0677	30	c.117 others(49): Show c.1171-3700_1171-3671dupTATGTAATGTACATTATGTAATGCTT ACAT	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIK3C3_chr18_41950234_42092830	42009654	T T	TGTAATGT others(23): Show TGTAATGTACATTATGTAATGCTTACATTAC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	340	0.0029	30	c.117 others(49): Show c.1171-3759_1171-3758insCGTAATGTACATTATGTAATGCTTAC ATTA	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIK3C3_chr18_41950234_42092830	42076105	T T	TATATATA others(23): Show TATATATATATATATGTATATATATATGCAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02647.hp1 others(8): Show HG02280.hp2 HG02572.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03516.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0001t0008 a0001c0006t0050 a0001c0001t0006 a0001c0001t0008 a0001c0006t0050	a0001c0001t0006g0319 a0001c0001t0006g0326 a0001c0001t0006g0327 others(8): Show a0001c0001t0006g0319 a0001c0001t0006g0326 a0001c0001t0006g0327 a0001c0001t0006g0328 a0001c0001t0006g0329 a0001c0001t0006g0330 a0001c0001t0006g0331 a0001c0001t0006g0333 a0001c0001t0006g0334 a0001c0001t0008g0325 a0001c0006t0050g0321	11	340	0.0324	30	c.265 others(49): Show c.2650-5004_2650-5003insGTATATATATATGCACATATATATAT ATAT	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	24/24		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIK3C3_chr18_41950234_42092830	42076129	T T	TATATATA others(23): Show TATATATATATATGCACATATATATATGCAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03540.hp1 HG02451.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0118 a0001c0001t0030g0119 a0001c0001t0030g0118 a0001c0001t0030g0119	2	340	0.0059	30	c.265 others(49): Show c.2650-4982_2650-4981insGCACATATATATATGCACATATATAT ATAT	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	24/24		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIK3R1_chr5_68210756_68306821	68262593	C C	CTGCATGT others(23): Show CTGCATGTATACACATGTATACACATGTAGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG00738.hp2 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0291 a0001c0001t0022g0292 a0001c0001t0022g0291 a0001c0001t0022g0292	2	308	0.0065	30	c.335 others(49): Show c.335-10768_335-10739dupGATGCATGTATACACATGTATACACA TGTA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R3_chr1_46035140_46137629	46067277	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19082.hp1 NA18944.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0025 a0001c0001t0005g0017 a0001c0001t0005g0025	2	318	0.0063	30	c.315 others(45): Show c.315-187_315-186insTTATATATATATATATATATATATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar

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