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
PHYKPL_chr5_178203471_178237802	178203504	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	440	0.0023	17	c.54 others(28): Show c.5442_*5443insTTTTTTTTTTTTTTTTT	PHYKPL	ENSG00000175309.15	transcript	ENST00000308158.10	protein_coding		4966		chr5	TogoVar
PI4K2A_chr10_97635671_97681434	97642842	C C	CTCTTTCT others(10): Show CTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	350	0.0029	17	c.435 others(34): Show c.435+1665_435+1666insTCTTTCTTTCTTTCTTT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding	1/8			chr10	TogoVar
PI4K2A_chr10_97635671_97681434	97642924	C C	CCTTTCTT others(10): Show CCTTTCTTTCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02074.hp1 NA18612.hp2 others(2): Show HG01255.hp2 HG02074.hp1 NA18612.hp2 NA19065.hp2 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0085 a0001c0003t0003g0092 a0001c0003t0003g0093 others(2): Show a0001c0003t0003g0085 a0001c0003t0003g0092 a0001c0003t0003g0093 a0001c0003t0003g0094 a0001c0003t0003g0098	5	350	0.0143	17	c.435 others(34): Show c.435+1756_435+1757insTTTCCTTTCTTTCTTTC	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PI4K2B_chr4_25229033_25284204	25265198	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0190 a0003c0004t0002g0190	1	436	0.0023	17	c.107 others(36): Show c.1078+1356_1078+1372dupAAAAAAAAAAAAAAAAA	PI4K2B	ENSG00000038210.14	transcript	ENST00000264864.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
PI4KA_chr22_20702691_20863811	20780775	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	334	0.0030	17	c.232 others(38): Show c.2328+12417_2328+12418insTTTTTTTTTTTTTTTTT	PI4KA	ENSG00000241973.11	transcript	ENST00000255882.11	protein_coding	19/54			chr22	TogoVar
PI4KA_chr22_20702691_20863811	20780789	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	334	0.0030	17	c.232 others(38): Show c.2328+12403_2328+12404insCTTTTTTTTTTTTTTTT	PI4KA	ENSG00000241973.11	transcript	ENST00000255882.11	protein_coding	19/54			chr22	TogoVar
PIAS1_chr15_68049315_68198847	68065915	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0029 a0001c0001t0005g0029	1	260	0.0039	17	c.24+ others(34): Show c.24+11577_24+11593dupTTTTTTTTTTTTTTTTT	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS1_chr15_68049315_68198847	68179564	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18943.hp1 NA18974.hp2 HG01167.hp1 NA18943.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0113 a0001c0001t0003g0174 a0001c0001t0004g0133 a0001c0001t0003g0113 a0001c0001t0003g0174 a0001c0001t0004g0133	3	260	0.0115	17	c.148 others(36): Show c.1482-1636_1482-1620dupTTTTTTTTTTTTTTTTT	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01169.hp1 NA18948.hp1 HG01169.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0177 a0001c0001t0113 a0001c0001t0177	a0001c0001t0113g0285 a0001c0001t0177g0039 a0001c0001t0113g0285 a0001c0001t0177g0039	2	322	0.0062	17	c.50 others(28): Show c.5049_*5050insAAAAAAATATATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807384	T T	TATATATA others(10): Show TATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0240 a0001c0001t0042g0240	1	322	0.0031	17	c.50 others(28): Show c.5048_*5049insTATATATATATATATAT	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5048		chr18	TogoVar
PIAS4_chr19_4002736_4044386	4005666	A A	ATAAAAGA others(10): Show ATAAAAGAGAAAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	334	0.0030	17	c.-20 others(28): Show c.-2095_-2094insTAAAAGAGAAAATGGGC	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding		2069		chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011673	G G	GGGGGTGT others(10): Show GGGGGTGTGGAGGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	334	0.0030	17	c.28- others(32): Show c.28-1079_28-1063dupGGGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011809	T T	TTTGGTGT others(10): Show TTTGGTGTGGAGGTGTGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0209 a0001c0002t0006g0209	1	334	0.0030	17	c.28- others(32): Show c.28-1114_28-1113insTTGGTGTGGAGGTGTGG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10			chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011872	C C	CTGTGGGG others(10): Show CTGTGGGGTGTGGAGGTG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	334	0.0030	17	c.28- others(32): Show c.28-1048_28-1032dupTGGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011892	G G	GGGGGTGT others(10): Show GGGGGTGTGGAGGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(65): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01496.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02630.hp1 HG02683.hp2 HG02738.hp1 HG02818.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18942.hp2 NA18944.hp1 NA18970.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18994.hp2 NA19007.hp1 NA19059.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0004c0013	a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 others(10): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0002t0018 a0001c0006t0004 a0001c0008t0005 a0004c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0194 a0001c0001t0001g0205 a0001c0001t0001g0226 a0001c0001t0009g0093 a0001c0001t0009g0095 a0001c0001t0014g0135 a0001c0001t0022g0057 a0001c0002t0001g0078 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0002g0112 a0001c0002t0003g0196 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0004g0171 a0001c0002t0004g0213 a0001c0002t0010g0105 a0001c0002t0018g0138 a0001c0006t0004g0036 a0001c0008t0005g0058 a0004c0013t0001g0015	68	334	0.2036	17	c.28- others(30): Show c.28-860_28-844dupGGGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011895	G G	TGTGTGGA others(10): Show TGTGTGGAGGTGTGTGGG	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18966.hp1 NA18968.hp2 others(1): Show HG02083.hp1 NA18966.hp1 NA18968.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0126 a0001c0001t0001g0127 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128	4	334	0.0120	17	c.28- others(32): Show c.28-1029_28-1028insTGTGTGGAGGTGTGTGG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10			chr19	TogoVar
PIAS4_chr19_4002736_4044386	4036388	A A	ATCCATAT others(10): Show ATCCATATAGTCCACACG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01256.hp2 HG01515.hp1 others(4): Show HG01192.hp2 HG01256.hp2 HG01515.hp1 HG02602.hp2 HG02738.hp1 HG03491.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0001c0001t0001 a0001c0003t0001 a0001c0007t0001	a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0003t0001g0217 others(4): Show a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0003t0001g0217 a0001c0007t0001g0024 a0001c0007t0001g0230 a0001c0007t0001g0235 a0001c0007t0001g0279	7	334	0.0210	17	c.114 others(34): Show c.1143-986_1143-985insTCCATATAGTCCACACG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10			chr19	TogoVar
PIBF1_chr13_72777133_73021461	72858023	T T	TTGCTTTT others(10): Show TTGCTTTTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG03209.hp1 others(14): Show HG00408.hp1 HG00544.hp1 HG03209.hp1 HG03654.hp2 HG03710.hp1 HG04228.hp1 NA18944.hp1 NA18950.hp2 NA18955.hp2 NA18961.hp1 NA18970.hp2 NA18983.hp2 NA18988.hp1 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0242 others(14): Show a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0291 a0001c0001t0001g0299 a0001c0001t0001g0312 a0001c0001t0003g0196	17	346	0.0491	17	c.132 others(36): Show c.1322+3870_1322+3871insCTTTTTGTGTGTGTGTG	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72904433	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03486.hp2 NA19004.hp1 HG00099.hp1 HG03486.hp2 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0097 a0001c0001t0001g0328 a0002c0002t0002g0214 a0001c0001t0001g0097 a0001c0001t0001g0328 a0002c0002t0002g0214	3	346	0.0087	17	c.148 others(36): Show c.1489-4089_1489-4073dupTTTTTTTTTTTTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	73001582	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG01358.hp1 others(22): Show HG00280.hp1 HG00558.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG03579.hp1 NA18952.hp1 NA18954.hp1 NA18977.hp2 NA18983.hp1 NA18986.hp2 NA19004.hp2 NA19043.hp2 NA19060.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0109 a0001c0001t0001g0136 a0001c0001t0001g0141 others(22): Show a0001c0001t0001g0109 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0002g0011 a0001c0001t0002g0106 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0140 a0001c0001t0002g0145 a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0002g0163 a0001c0001t0002g0168 a0001c0001t0002g0171 a0002c0002t0002g0089	25	346	0.0723	17	c.222 others(36): Show c.2223+2589_2223+2605dupTTTTTTTTTTTTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	73010810	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0001 a0002c0012t0002g0001	1	346	0.0029	17	c.222 others(36): Show c.2224-5045_2224-5029dupTTTTTTTTTTTTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PICALM_chr11_85952175_86074084	85982423	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0278 a0001c0002t0005g0278	1	358	0.0028	17	c.151 others(34): Show c.1517-421_1517-420insAAAAAAAAAAAAAAAAA	PICALM	ENSG00000073921.18	transcript	ENST00000393346.8	protein_coding	14/19			chr11	TogoVar
PID1_chr2_229018973_229276287	229134231	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	256	0.0039	17	c.177 others(36): Show c.177+21570_177+21586dupAAAAAAAAAAAAAAAAA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229138451	C C	CCCATTTG others(10): Show CCCATTTGACTTGGGTGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	256	0.0039	17	c.177 others(36): Show c.177+17350_177+17366dupTCACCCAAGTCAAATGG	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PIEZO2_chr18_10665247_11154569	10737292	A A	AAAAACAA others(10): Show AAAAACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp2 HG02258.hp1 HG03486.hp2	a0001 a0014 a0001 a0014	a0001c0044 a0014c0036 a0001c0044 a0014c0036	a0001c0044t0002 a0014c0036t0002 a0001c0044t0002 a0014c0036t0002	a0001c0044t0002g0073 a0014c0036t0002g0037 a0001c0044t0002g0073 a0014c0036t0002g0037	2	158	0.0127	17	c.470 others(34): Show c.4709-583_4709-582insGTTTTTTTTTTTGTTTT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	33/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10809260	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG03540.hp2 HG02451.hp1 HG02630.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0002c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0001t0002	a0001c0002t0001g0128 a0001c0002t0002g0091 a0002c0001t0002g0039 a0001c0002t0001g0128 a0001c0002t0002g0091 a0002c0001t0002g0039	3	158	0.0190	17	c.918 others(34): Show c.918-2003_918-1987dupAAAAAAAAAAAAAAAAA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	7/55			chr18	TogoVar
PIF1_chr15_64810632_64830647	64826624	T T	TATATATA others(10): Show TATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0040 a0006c0008t0003g0040	1	348	0.0029	17	c.-10 others(28): Show c.-1076_-1075insTATATATATATATATAT	PIF1	ENSG00000140451.13	transcript	ENST00000559239.2	protein_coding		978		chr15	TogoVar
PIGL_chr17_16212210_16331411	16216786	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG03704.hp1 NA18990.hp1 HG00323.hp1 HG03704.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0018 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0001g0018 a0001c0001t0003g0027 a0001c0001t0003g0028	3	246	0.0122	17	c.-44 others(26): Show c.-441_-440insAAAAAAAAAAAAAAAAA	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding		423		chr17	TogoVar
PIGL_chr17_16212210_16331411	16246672	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02976.hp2 HG03540.hp1 HG02622.hp1 HG02976.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0134 a0001c0001t0003g0124 a0001c0001t0003g0133 a0001c0001t0001g0134 a0001c0001t0003g0124 a0001c0001t0003g0133	3	246	0.0122	17	c.335 others(36): Show c.335+12610_335+12626dupTTTTTTTTTTTTTTTTT	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(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02280.hp2 HG02559.hp2 others(7): Show HG01361.hp1 HG02280.hp2 HG02559.hp2 HG02717.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0100 others(7): Show a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0002g0073	10	246	0.0407	17	c.427 others(34): Show c.427-2066_427-2065insTTTTTTTTTTTTTTTTT	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(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02015.hp1 NA18964.hp1 others(1): Show HG00733.hp2 HG02015.hp1 NA18964.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0008 a0002c0002t0083 others(1): Show a0002c0002t0007 a0002c0002t0008 a0002c0002t0083 a0002c0002t0088	a0002c0002t0007g0104 a0002c0002t0008g0105 a0002c0002t0083g0041 others(1): Show a0002c0002t0007g0104 a0002c0002t0008g0105 a0002c0002t0083g0041 a0002c0002t0088g0088	4	342	0.0117	17	c.267 others(36): Show c.2672+9774_2672+9790dupAAAAAAAAAAAAAAAAA	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIGP_chr21_37060374_37078071	37076694	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	436	0.0023	17	c.-37 others(28): Show c.-3734_-3718dupAAAAAAAAAAAAAAAAA	PIGP	ENSG00000185808.14	transcript	ENST00000360525.9	protein_coding		3624		chr21	TogoVar
PIGQ_chr16_564968_589109	569850	C C	CCGGGCCT others(10): Show CCGGGCCTGGGGACTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 NA18964.hp2 NA18988.hp1 others(1): Show HG02080.hp2 NA18964.hp2 NA18988.hp1 NA19089.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0169 a0002c0001t0001g0183 a0002c0001t0001g0199 others(1): Show a0002c0001t0001g0169 a0002c0001t0001g0183 a0002c0001t0001g0199 a0002c0001t0001g0212	4	408	0.0098	17	c.-25 others(26): Show c.-256_-255insCGGGCCTGGGGACTGGG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding		117		chr16	TogoVar
PIGS_chr17_28548387_28576524	28553975	A A	AAGGAGAC others(10): Show AAGGAGACCCGGATGATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0091 a0001c0001t0016g0091	1	330	0.0030	17	c.22 others(26): Show c.228_*244dupCATCATCCGGGTCTCCT	PIGS	ENSG00000087111.22	transcript	ENST00000308360.8	protein_coding	12/12	244		chr17	TogoVar
PIGX_chr3_196707377_196741007	196717300	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG01256.hp1 others(8): Show HG00408.hp1 HG00673.hp2 HG01256.hp1 HG02071.hp2 HG02129.hp1 HG04115.hp2 NA18747.hp2 NA18965.hp1 NA18968.hp1 NA18979.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025	a0001c0001t0005g0231 a0001c0001t0006g0232 a0001c0001t0006g0237 others(7): Show a0001c0001t0005g0231 a0001c0001t0006g0232 a0001c0001t0006g0237 a0001c0001t0007g0230 a0001c0001t0008g0042 a0001c0001t0008g0235 a0001c0001t0008g0236 a0001c0001t0010g0229 a0001c0001t0010g0233 a0001c0001t0025g0234	11	416	0.0264	17	c.176 others(32): Show c.176+386_176+387insAAAAAAAAAAAAAAAAA	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(10): Show CAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp2 HG01891.hp2 HG02723.hp2 others(8): Show HG01261.hp2 HG01891.hp2 HG02723.hp2 HG04228.hp2 NA18956.hp1 NA18967.hp2 NA18993.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0011 a0001c0001t0053 a0002c0004t0011 a0001c0001t0011 a0001c0001t0053 a0002c0004t0011	a0001c0001t0011g0001 a0001c0001t0011g0149 a0001c0001t0011g0175 others(4): Show a0001c0001t0011g0001 a0001c0001t0011g0149 a0001c0001t0011g0175 a0001c0001t0011g0225 a0001c0001t0053g0038 a0002c0004t0011g0179 a0002c0004t0011g0209	11	416	0.0264	17	c.14 others(28): Show c.1406_*1422dupAAAAAAAAAAAAAAAAA	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	6/6	1423	INFO_REALIGN_3_PRIME	chr3	TogoVar
PIGY_chr4_88515998_88528776	88516483	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	446	0.0022	17	c.50 others(28): Show c.5090_*5091insTTTTTTTTTTTTTTTTT	PIGY	ENSG00000255072.2	transcript	ENST00000527353.2	protein_coding		4514		chr4	TogoVar
PIGZ_chr3_196941356_196973833	196960735	A A	AGAGAGAA others(10): Show AGAGAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0129 a0001c0004t0001g0129	1	424	0.0024	17	c.-1+ others(32): Show c.-1+7951_-1+7952insCTTTCTTTCTTTCTCTC	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	1/2			chr3	TogoVar
PIGZ_chr3_196941356_196973833	196960737	G G	GAAGAAAG others(10): Show GAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0024 a0024	a0024c0036 a0024c0036	a0024c0036t0001 a0024c0036t0001	a0024c0036t0001g0141 a0024c0036t0001g0141	1	424	0.0024	17	c.-1+ others(32): Show c.-1+7949_-1+7950insTTCTTTCTTTCTTTCTT	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	1/2			chr3	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	384	0.0026	17	c.18 others(26): Show c.185_*186insATTTTTTTTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 NA19010.hp1 HG02145.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0003 a0001c0001t0001g0010	2	384	0.0052	17	c.18 others(26): Show c.185_*186insATATATTTTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	384	0.0026	17	c.18 others(26): Show c.185_*186insATATATATTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	384	0.0026	17	c.18 others(26): Show c.185_*186insATATATATATATTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIK3AP1_chr10_96588315_96725514	96629930	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA20129.hp2 HG02572.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0012 a0002c0002t0001g0092 a0001c0001t0001g0012 a0002c0002t0001g0092	2	256	0.0078	17	c.137 others(36): Show c.1376-1438_1376-1437insCTTCTTTTTTTTTTTTT	PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	8/16			chr10	TogoVar
PIK3AP1_chr10_96588315_96725514	96692575	A A	AAAAAAAA others(10): Show AAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0006 a0001c0009t0003g0006	1	256	0.0039	17	c.430 others(36): Show c.430+16975_430+16991dupCTTTCTTTCTTTTTTTT	PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	2/16			chr10	TogoVar
PIK3AP1_chr10_96588315_96725514	96693470	T T	TGGATGGA others(10): Show TGGATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0032 a0001c0006t0006g0032	1	256	0.0039	17	c.430 others(36): Show c.430+16096_430+16097insCATCCATCCATCCATCC	PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	2/16			chr10	TogoVar
PIK3AP1_chr10_96588315_96725514	96711739	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02818.hp1 HG02486.hp1 HG02559.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0008 a0002c0002 a0002c0005 a0002c0008	a0002c0002t0001 a0002c0005t0005 a0002c0008t0004 a0002c0002t0001 a0002c0005t0005 a0002c0008t0004	a0002c0002t0001g0226 a0002c0005t0005g0093 a0002c0008t0004g0078 a0002c0002t0001g0226 a0002c0005t0005g0093 a0002c0008t0004g0078	3	256	0.0117	17	c.14- others(32): Show c.14-1773_14-1757dupAAAAAAAAAAAAAAAAA	PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	1/16			chr10	TogoVar
PIK3C2G_chr12_18256518_18653416	18292227	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0119 a0003c0002t0002g0119	1	176	0.0057	17	c.919 others(34): Show c.919+1216_919+1217insAAAAAAAAATATATATA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18292227	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0001 a0003c0026t0001	a0003c0026t0001g0098 a0003c0026t0001g0098	1	176	0.0057	17	c.919 others(34): Show c.919+1216_919+1217insAAATATATATATATATA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18292227	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0141 a0001c0008t0001g0141	1	176	0.0057	17	c.919 others(34): Show c.919+1215_919+1216insTATATATATATATATAT	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	4/32			chr12	TogoVar

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