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
PHF19_chr9_120850651_120882188	120872037	C C	CAAAAAAA others(12): Show CAAAAAAAAAGAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00738.hp2 others(5): Show HG00099.hp1 HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01169.hp2 HG01496.hp2 HG03492.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0013 a0001c0001t0004g0056 a0001c0001t0004g0065 others(3): Show a0001c0001t0004g0013 a0001c0001t0004g0056 a0001c0001t0004g0065 a0001c0001t0004g0290 a0001c0002t0004g0289 a0001c0002t0004g0291	8	408	0.0196	19	c.269 others(36): Show c.269-1500_269-1499insTTTTTTTTTCTTTTTTTTT	PHF19	ENSG00000119403.15	transcript	ENST00000373896.8	protein_coding	3/14			chr9	TogoVar
PHF20_chr20_35767015_35955370	35793995	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03017.hp1 HG04228.hp2 others(1): Show HG02257.hp1 HG03017.hp1 HG04228.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0096 a0002c0002t0003g0118 a0002c0002t0003g0135 others(1): Show a0002c0002t0002g0096 a0002c0002t0003g0118 a0002c0002t0003g0135 a0002c0002t0003g0146	4	206	0.0194	19	c.-32 others(36): Show c.-32-7492_-32-7474dupAAAAAAAAAAAAAAAAAAA	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF20_chr20_35767015_35955370	35904767	C C	CTCCTCCT others(12): Show CTCCTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01952.hp1 HG02258.hp1 others(10): Show HG00544.hp1 HG01952.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02809.hp1 HG02886.hp1 HG03516.hp1 HG03688.hp1 HG03834.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0020 a0001c0005t0002 a0002c0002t0003 a0002c0002t0008	a0001c0001t0002g0151 a0001c0001t0002g0160 a0001c0001t0002g0168 others(10): Show a0001c0001t0002g0151 a0001c0001t0002g0160 a0001c0001t0002g0168 a0001c0001t0002g0184 a0001c0001t0002g0196 a0001c0001t0004g0034 a0001c0001t0007g0180 a0001c0001t0007g0182 a0001c0001t0020g0153 a0001c0005t0002g0149 a0001c0005t0002g0155 a0002c0002t0003g0143 a0002c0002t0008g0140	13	206	0.0631	19	c.156 others(38): Show c.1561+5123_1561+5124insCCTTCCTTCCTTCCTTCCT	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF21A_chr11_45924319_46126454	45958419	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18953.hp2 NA18968.hp1 HG01433.hp2 NA18953.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0137 a0001c0001t0003g0152 a0001c0001t0003g0126 a0001c0001t0003g0137 a0001c0001t0003g0152	3	280	0.0107	19	c.997 others(36): Show c.997-4795_997-4794insATATATATTTTTTTTTTTT	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	10/18			chr11	TogoVar
PHF21A_chr11_45924319_46126454	45958419	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	280	0.0036	19	c.997 others(36): Show c.997-4795_997-4794insATATATATATTTTTTTTTT	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	10/18			chr11	TogoVar
PHF21A_chr11_45924319_46126454	45958419	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0006 a0002c0002t0007g0006	1	280	0.0036	19	c.997 others(36): Show c.997-4795_997-4794insATATATATATATTTTTTTT	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	10/18			chr11	TogoVar
PHF21A_chr11_45924319_46126454	45986084	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	280	0.0036	19	c.154 others(36): Show c.154-6119_154-6118insGTGTGTGTGTGTGTGTGTG	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	6/18			chr11	TogoVar
PHF21B_chr22_44876162_45015005	44912878	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG06807.hp1 NA18906.hp2 HG03041.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0039 a0001c0001t0001 a0001c0001t0039	a0001c0001t0001g0226 a0001c0001t0001g0245 a0001c0001t0039g0235 a0001c0001t0001g0226 a0001c0001t0001g0245 a0001c0001t0039g0235	3	300	0.0100	19	c.831 others(34): Show c.831+925_831+943dupTTTTTTTTTTTTTTTTTTT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	5/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44947971	G G	GCCTCCTC others(12): Show GCCTCCTCCCCGCTGTTGTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00423.hp1 others(128): Show HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18980.hp1 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19002.hp1 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp2 NA19066.hp2 NA19068.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0008	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0011 a0001c0012 a0001c0017 a0002c0003 a0002c0007 a0004c0009 a0007c0014 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0014 a0001c0002t0016 a0001c0002t0018 a0001c0002t0023 a0001c0002t0027 a0001c0002t0028 a0001c0002t0036 a0001c0004t0005 a0001c0004t0030 a0001c0006t0002 a0001c0006t0003 a0001c0006t0005 a0001c0006t0017 a0001c0011t0006 a0001c0011t0015 a0001c0012t0016 a0001c0017t0033 a0002c0003t0011 a0002c0003t0012 a0002c0003t0026 a0002c0007t0005 a0002c0007t0006 a0002c0007t0009 a0004c0009t0002 a0007c0014t0015 a0008c0013t0015	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0084 others(128): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0107 a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0226 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0177 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0271 a0001c0001t0003g0034 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0097 a0001c0001t0004g0104 a0001c0001t0004g0176 a0001c0001t0007g0288 a0001c0001t0007g0292 a0001c0001t0007g0294 a0001c0001t0008g0024 a0001c0001t0016g0020 a0001c0001t0031g0158 a0001c0001t0034g0202 a0001c0001t0035g0270 a0001c0001t0044g0275 a0001c0001t0045g0290 a0001c0001t0047g0300 a0001c0002t0001g0103 a0001c0002t0002g0094 a0001c0002t0003g0099 a0001c0002t0003g0100 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0106 a0001c0002t0004g0162 a0001c0002t0005g0068 a0001c0002t0005g0219 a0001c0002t0006g0105 a0001c0002t0006g0109 a0001c0002t0006g0110 a0001c0002t0006g0170 a0001c0002t0006g0172 a0001c0002t0006g0173 a0001c0002t0006g0174 a0001c0002t0006g0175 a0001c0002t0006g0228 a0001c0002t0006g0236 a0001c0002t0006g0254 a0001c0002t0008g0021 a0001c0002t0009g0004 a0001c0002t0009g0005 a0001c0002t0009g0014 a0001c0002t0009g0016 a0001c0002t0009g0022 a0001c0002t0014g0277 a0001c0002t0014g0278 a0001c0002t0014g0293 a0001c0002t0016g0003 a0001c0002t0018g0012 a0001c0002t0023g0298 a0001c0002t0027g0018 a0001c0002t0028g0019 a0001c0002t0036g0240 a0001c0004t0005g0160 a0001c0004t0005g0161 a0001c0004t0030g0095 a0001c0006t0002g0246 a0001c0006t0003g0171 a0001c0006t0005g0194 a0001c0006t0017g0025 a0001c0011t0006g0207 a0001c0011t0015g0015 a0001c0012t0016g0013 a0001c0017t0033g0108 a0002c0003t0011g0035 a0002c0003t0011g0247 a0002c0003t0012g0220 a0002c0003t0012g0221 a0002c0003t0012g0266 a0002c0003t0026g0026 a0002c0007t0005g0234 a0002c0007t0006g0169 a0002c0007t0009g0001 a0004c0009t0002g0185 a0004c0009t0002g0209 a0004c0009t0002g0217 a0007c0014t0015g0002 a0008c0013t0015g0006	131	300	0.4367	19	c.121 others(38): Show c.121-27500_121-27482dupGACAACAGCGGGGAGGAGG	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF23_chr17_7230038_7244457	7233087	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00597.hp2 others(41): Show HG00323.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01975.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02300.hp2 HG02523.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 NA18612.hp1 NA18948.hp2 NA18966.hp1 NA18986.hp2 NA18999.hp2 NA19000.hp2 NA19009.hp2 NA19012.hp1 NA19062.hp1 NA19070.hp1 NA19086.hp1 NA19088.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0008 a0001c0001 a0001c0006 a0003c0008	a0001c0001t0001 a0001c0006t0001 a0003c0008t0001 a0001c0001t0001 a0001c0006t0001 a0003c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0006t0001g0065 a0003c0008t0001g0066	44	394	0.1117	19	c.25 others(30): Show c.2520_*2538dupTTTTTTTTTTTTTTTTTTT	PHF23	ENSG00000040633.13	transcript	ENST00000320316.8	protein_coding		1950		chr17	TogoVar
PHF2_chr9_93571584_93684587	93627492	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01496.hp2 HG01952.hp2 others(8): Show HG01069.hp1 HG01496.hp2 HG01952.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02809.hp2 HG03209.hp2 NA18906.hp2 NA19055.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0017 others(1): Show a0001c0001 a0001c0003 a0001c0017 a0004c0010	a0001c0001t0001 a0001c0003t0003 a0001c0003t0007 others(3): Show a0001c0001t0001 a0001c0003t0003 a0001c0003t0007 a0001c0003t0009 a0001c0017t0001 a0004c0010t0009	a0001c0001t0001g0289 a0001c0003t0003g0008 a0001c0003t0003g0065 others(7): Show a0001c0001t0001g0289 a0001c0003t0003g0008 a0001c0003t0003g0065 a0001c0003t0003g0262 a0001c0003t0007g0152 a0001c0003t0007g0287 a0001c0003t0007g0330 a0001c0003t0009g0318 a0001c0017t0001g0075 a0004c0010t0009g0285	11	350	0.0314	19	c.99- others(34): Show c.99-2462_99-2461insTTTTTTTTTTTTTTTTTTT	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHF3_chr6_63630802_63731011	63727735	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG03239.hp1 HG03688.hp2 others(2): Show HG00323.hp1 HG03239.hp1 HG03688.hp2 NA18941.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0065 a0001c0001t0003 a0001c0001t0065	a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0069 others(2): Show a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0069 a0001c0001t0003g0290 a0001c0001t0065g0039	5	320	0.0156	19	c.14 others(32): Show c.14027_*14028insTATATATATATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1725		chr6	TogoVar
PHF3_chr6_63630802_63731011	63727737	A A	AAATATAT others(12): Show AAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG02300.hp1 HG02818.hp2 others(2): Show HG01517.hp1 HG02300.hp1 HG02818.hp2 HG03669.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0028 others(2): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0028 a0001c0001t0071 a0001c0001t0077	a0001c0001t0006g0087 a0001c0001t0007g0051 a0001c0001t0028g0166 others(2): Show a0001c0001t0006g0087 a0001c0001t0007g0051 a0001c0001t0028g0166 a0001c0001t0071g0072 a0001c0001t0077g0094	5	320	0.0156	19	c.14 others(32): Show c.14029_*14030insAATATATATATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1727		chr6	TogoVar
PHF3_chr6_63630802_63731011	63727737	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG01070.hp2 others(10): Show HG00408.hp1 HG00597.hp1 HG01070.hp2 HG01106.hp2 HG01258.hp1 HG01952.hp1 HG02056.hp2 HG02129.hp1 HG02451.hp1 HG03098.hp1 HG03195.hp2 NA18747.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0048 a0001c0001t0066 a0001c0001t0072 a0001c0013t0006	a0001c0001t0002g0235 a0001c0001t0002g0248 a0001c0001t0003g0044 others(10): Show a0001c0001t0002g0235 a0001c0001t0002g0248 a0001c0001t0003g0044 a0001c0001t0003g0073 a0001c0001t0003g0085 a0001c0001t0003g0299 a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0007g0028 a0001c0001t0048g0084 a0001c0001t0066g0013 a0001c0001t0072g0079 a0001c0013t0006g0046	13	320	0.0406	19	c.14 others(32): Show c.14029_*14030insTATATATATATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1727		chr6	TogoVar
PHLDB1_chr11_118602615_118663028	118647727	G G	GGGTTTGA others(12): Show GGGTTTGAAGTCAGGACAGT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	356	0.0028	19	c.350 others(36): Show c.3508-202_3508-184dupGGTTTGAAGTCAGGACAGT	PHLDB1	ENSG00000019144.20	transcript	ENST00000600882.6	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHLDB2_chr3_111854265_111981517	111866014	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01123.hp2 HG04199.hp1 others(2): Show HG00738.hp2 HG01123.hp2 HG04199.hp1 HG06807.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0005 a0001c0001t0001 a0001c0003t0005	a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0003t0005g0163 others(2): Show a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0003t0005g0163 a0001c0003t0005g0165 a0001c0003t0005g0166	5	286	0.0175	19	c.-15 others(36): Show c.-15+6444_-15+6462dupTTTTTTTTTTTTTTTTTTT	PHLDB2	ENSG00000144824.21	transcript	ENST00000431670.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PHLDB3_chr19_43470103_43509746	43487574	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	396	0.0025	19	c.115 others(36): Show c.1150-452_1150-451insTTTTTTTTTTTTTTTTTTT	PHLDB3	ENSG00000176531.11	transcript	ENST00000292140.10	protein_coding	9/15			chr19	TogoVar
PHLDB3_chr19_43470103_43509746	43503280	G G	GTCTCTCT others(12): Show GTCTCTCTCTCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	396	0.0025	19	c.213 others(34): Show c.213+625_213+626insGAGAGAGAGGAGAGAGAGA	PHLDB3	ENSG00000176531.11	transcript	ENST00000292140.10	protein_coding	2/15			chr19	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	192	0.0052	19	c.157 others(40): Show c.1576+48818_1576+48819insAAAAAAAAAAATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0159 a0002c0003t0001g0159	1	192	0.0052	19	c.157 others(40): Show c.1576+48818_1576+48819insAAAAAAATATATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02717.hp1 NA18953.hp2 others(1): Show HG01081.hp1 HG02717.hp1 NA18953.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0086 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089	4	192	0.0208	19	c.157 others(40): Show c.1576+48817_1576+48818insTATATATATATATATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16			chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766103	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	192	0.0052	19	c.157 others(40): Show c.1576+48844_1576+48845insTATATATATATATATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16			chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62772830	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0019 a0004c0024t0019	a0004c0024t0019g0060 a0004c0024t0019g0060	1	192	0.0052	19	c.157 others(40): Show c.1576+55572_1576+55590dupAAAAAAAAAAAAAAAAAAA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP2_chr16_71639924_71729701	71704307	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0273 a0001c0001t0023g0273	1	324	0.0031	19	c.285 others(36): Show c.285-1577_285-1576insTTTTTTTTTTTTTTTTTTT	PHLPP2	ENSG00000040199.18	transcript	ENST00000568954.5	protein_coding	2/18			chr16	TogoVar
PHLPP2_chr16_71639924_71729701	71719964	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19066.hp1 NA18971.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0027 a0001c0001t0001g0042	2	324	0.0062	19	c.-7+ others(34): Show c.-7+4346_-7+4364dupAAAAAAAAAAAAAAAAAAA	PHLPP2	ENSG00000040199.18	transcript	ENST00000568954.5	protein_coding	1/18			chr16	TogoVar
PHOSPHO1_chr17_49218366_49235787	49232385	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01952.hp1 HG02004.hp2 others(5): Show HG01168.hp1 HG01952.hp1 HG02004.hp2 HG02735.hp1 HG02818.hp2 HG03017.hp2 NA18939.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0005 a0001c0001t0003g0007	8	420	0.0191	19	c.-19 others(30): Show c.-1986_-1985insTTTTTTTTTTTTTTTTTTT	PHOSPHO1	ENSG00000173868.12	transcript	ENST00000310544.9	protein_coding		1599		chr17	TogoVar
PHOX2B_chr4_41739082_41753725	41742625	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01243.hp1 NA19043.hp1 others(1): Show HG00741.hp1 HG01243.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	4	382	0.0105	19	c.31 others(30): Show c.3181_*3182insAAAAAAAAAAAAAAAAAAA	PHOX2B	ENSG00000109132.7	transcript	ENST00000226382.4	protein_coding		1456		chr4	TogoVar
PHPT1_chr9_136844409_136856024	136849695	G G	GCGGGGGC others(12): Show GCGGGGGCGGGGCTGCGGGC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	344	0.0029	19	c.160 others(34): Show c.160+108_160+126dupGGGGCGGGGCTGCGGGCCG	PHPT1	ENSG00000054148.18	transcript	ENST00000247665.12	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHRF1_chr11_571470_617222	576745	G G	GCTGGGAG others(12): Show GCTGGGAGGCCCCGCCGAGA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01361.hp1 others(15): Show HG01256.hp2 HG01258.hp2 HG01361.hp1 HG02071.hp1 HG02451.hp2 HG02622.hp1 HG02818.hp2 HG03453.hp1 HG03490.hp2 HG03834.hp2 HG04184.hp2 NA18747.hp2 NA18906.hp1 NA18943.hp2 NA18963.hp2 NA18964.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0009 a0010 a0011	a0001c0001 a0002c0002 a0006c0008 others(3): Show a0001c0001 a0002c0002 a0006c0008 a0009c0012 a0010c0015 a0011c0016	a0001c0001t0001 a0002c0002t0001 a0006c0008t0004 others(4): Show a0001c0001t0001 a0002c0002t0001 a0006c0008t0004 a0006c0008t0010 a0009c0012t0003 a0010c0015t0001 a0011c0016t0001	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 others(14): Show a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0002c0002t0001g0066 a0002c0002t0001g0070 a0002c0002t0001g0072 a0006c0008t0004g0080 a0006c0008t0004g0081 a0006c0008t0010g0068 a0009c0012t0003g0067 a0010c0015t0001g0004 a0011c0016t0001g0069	18	279	0.0645	19	c.-22 others(34): Show c.-22+317_-22+335dupCGCCGAGACTGGGAGGCCC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHTF1_chr1_113691831_113764486	113701826	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp1 homoSapiens_chm13v2.hp1 NA18947.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0222 a0001c0001t0001g0159 a0001c0001t0001g0222	2	330	0.0061	19	c.189 others(36): Show c.1891-896_1891-878dupTTTTTTTTTTTTTTTTTTT	PHTF1	ENSG00000116793.16	transcript	ENST00000369604.6	protein_coding	15/18			chr1	TogoVar
PHTF2_chr7_77793773_77962225	77927177	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0003 a0001c0003t0004g0003	1	314	0.0032	19	c.101 others(38): Show c.1018-1931_1018-1930insAAAAAAAAATATATATATA	PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHTF2_chr7_77793773_77962225	77927177	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03239.hp2 NA20805.hp1 HG01256.hp1 HG03239.hp2 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0002 a0001c0003t0004g0005 a0001c0003t0004g0006 a0001c0003t0004g0002 a0001c0003t0004g0005 a0001c0003t0004g0006	3	314	0.0096	19	c.101 others(38): Show c.1018-1931_1018-1930insAAAAAAATATATATATATA	PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHTF2_chr7_77793773_77962225	77947826	C C	CTTTCTTT others(12): Show CTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0310 a0001c0001t0003g0310	1	314	0.0032	19	c.185 others(38): Show c.1858-1849_1858-1848insCTTTTTTTTTTTTTTTTTT	PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHYHIPL_chr10_59171643_59252770	59177785	G G	GAGTCTGC others(12): Show GAGTCTGCTACTTTAGTAAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0028	1	202	0.0050	19	c.106 others(34): Show c.106+827_106+845dupAGTCTGCTACTTTAGTAAT	PHYHIPL	ENSG00000165443.12	transcript	ENST00000373880.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHYH_chr10_13272799_13305064	13296270	T T	TGTTCAAA others(12): Show TGTTCAAAATGTTAACTATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(237): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0005c0009 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0005c0009t0003 a0006c0011t0002	a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0001g0046 others(215): Show a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0107 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0294 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0325 a0001c0001t0001g0336 a0001c0001t0001g0358 a0001c0001t0001g0366 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0075 a0001c0001t0002g0160 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0209 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0289 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0305 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0342 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0347 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0365 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0002g0378 a0001c0001t0002g0386 a0001c0001t0002g0390 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0098 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0162 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0178 a0001c0001t0003g0219 a0001c0001t0003g0233 a0001c0001t0003g0242 a0001c0001t0003g0245 a0001c0001t0003g0291 a0001c0001t0003g0306 a0001c0001t0003g0308 a0001c0001t0003g0311 a0001c0001t0003g0339 a0001c0001t0003g0346 a0001c0001t0004g0230 a0001c0001t0004g0384 a0001c0001t0004g0385 a0001c0001t0004g0387 a0001c0001t0004g0388 a0001c0001t0004g0389 a0001c0001t0007g0031 a0001c0001t0008g0304 a0001c0001t0009g0211 a0001c0002t0001g0095 a0001c0002t0001g0108 a0001c0002t0001g0153 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0002g0048 a0001c0002t0002g0063 a0001c0002t0003g0019 a0001c0002t0003g0163 a0001c0002t0003g0299 a0001c0002t0005g0179 a0002c0003t0001g0116 a0002c0003t0002g0117 a0002c0004t0001g0103 a0002c0004t0001g0121 a0002c0004t0001g0124 a0002c0004t0002g0122 a0005c0009t0003g0341 a0006c0011t0002g0301	240	438	0.5480	19	c.135 others(34): Show c.135-665_135-664insCATAGTTAACATTTTGAAC	PHYH	ENSG00000107537.14	transcript	ENST00000263038.9	protein_coding	2/8			chr10	TogoVar
PHYKPL_chr5_178203471_178237802	178203504	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00733.hp2 HG00741.hp2 others(21): Show HG00408.hp2 HG00733.hp2 HG00741.hp2 HG01071.hp2 HG01168.hp2 HG01934.hp1 HG02071.hp2 HG02135.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG03704.hp2 HG03834.hp1 HG04204.hp2 NA18939.hp2 NA18949.hp2 NA18970.hp1 NA19003.hp2 NA19058.hp2 NA19083.hp1 NA19085.hp2 NA19088.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0006 a0001c0001 a0001c0002 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0006c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0113 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0002g0005 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0002g0307 a0001c0001t0003g0034 a0001c0001t0003g0263 a0001c0001t0003g0271 a0001c0001t0004g0283 a0001c0002t0001g0049 a0001c0002t0001g0060 a0001c0002t0001g0076 a0006c0006t0001g0121	24	440	0.0546	19	c.54 others(30): Show c.5442_*5443insTTTTTTTTTTTTTTTTTTT	PHYKPL	ENSG00000175309.15	transcript	ENST00000308158.10	protein_coding		4966		chr5	TogoVar
PHYKPL_chr5_178203471_178237802	178232400	C C	CGCGTGCG others(12): Show CGCGTGCGTAGTGCGTGCGT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	440	0.0023	19	c.59+ others(30): Show c.59+73_59+91dupACGCACGCACTACGCACGC	PHYKPL	ENSG00000175309.15	transcript	ENST00000308158.10	protein_coding	1/12			chr5	TogoVar
PI4K2A_chr10_97635671_97681434	97679000	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 NA18994.hp2 HG01255.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0332 a0001c0003t0003g0093 a0001c0001t0001g0332 a0001c0003t0003g0093	2	350	0.0057	19	c.52 others(30): Show c.5258_*5259insGTGTGTGTGTGTGTGTGTG	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2567		chr10	TogoVar
PI4K2B_chr4_25229033_25284204	25265198	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA20805.hp2 NA18945.hp1 NA20805.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0183 a0003c0004t0002g0209 a0003c0004t0002g0183 a0003c0004t0002g0209	2	436	0.0046	19	c.107 others(38): Show c.1078+1354_1078+1372dupAAAAAAAAAAAAAAAAAAA	PI4K2B	ENSG00000038210.14	transcript	ENST00000264864.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
PI4KA_chr22_20702691_20863811	20759402	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0313 a0001c0003t0003g0313	1	334	0.0030	19	c.279 others(38): Show c.2791+1883_2791+1901dupAAAAAAAAAAAAAAAAAAA	PI4KA	ENSG00000241973.11	transcript	ENST00000255882.11	protein_coding	23/54			chr22	TogoVar
PI4KA_chr22_20702691_20863811	20817734	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0063 a0001c0002t0008g0063	1	334	0.0030	19	c.856 others(34): Show c.856+730_856+748dupTTTTTTTTTTTTTTTTTTT	PI4KA	ENSG00000241973.11	transcript	ENST00000255882.11	protein_coding	7/54			chr22	TogoVar
PIAS1_chr15_68049315_68198847	68065915	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0172 a0001c0001t0010g0172	1	260	0.0039	19	c.24+ others(36): Show c.24+11575_24+11593dupTTTTTTTTTTTTTTTTTTT	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(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02273.hp2 HG03710.hp2 HG01952.hp1 HG02273.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0123 a0001c0001t0003g0159 a0001c0001t0011g0210 a0001c0001t0003g0123 a0001c0001t0003g0159 a0001c0001t0011g0210	3	260	0.0115	19	c.148 others(38): Show c.1482-1638_1482-1620dupTTTTTTTTTTTTTTTTTTT	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(12): Show ATATATATATATATATTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 homoSapiens_chm13v2.hp1 HG02630.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0084 a0001c0005t0127 a0001c0001t0084 a0001c0005t0127	a0001c0001t0084g0107 a0001c0005t0127g0170 a0001c0001t0084g0107 a0001c0005t0127g0170	2	322	0.0062	19	c.50 others(30): Show c.5049_*5050insAAAAATATATATATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0105	a0001c0001t0105g0280 a0001c0001t0105g0280	1	322	0.0031	19	c.50 others(30): Show c.5049_*5050insAAAAAAAAATATATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46832892	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG00558.hp1 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0040 a0001c0001t0039 a0001c0001t0040	a0001c0001t0039g0250 a0001c0001t0040g0251 a0001c0001t0039g0250 a0001c0001t0040g0251	2	322	0.0062	19	c.120 others(38): Show c.1203-3026_1203-3025insTTTTTTTTTTTTTTTTTTT	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	9/13			chr18	TogoVar
PIAS4_chr19_4002736_4044386	4036164	A A	ACATCCAT others(12): Show ACATCCATACAGTCCACACC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0117 a0001c0001t0021g0117	1	334	0.0030	19	c.114 others(38): Show c.1143-1210_1143-1209insCATCCATACAGTCCACACC	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10			chr19	TogoVar
PIAS4_chr19_4002736_4044386	4036168	A A	ATCCATAC others(12): Show ATCCATACAATCCACACCGT	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	19	c.114 others(38): Show c.1143-1206_1143-1205insTCCATACAATCCACACCGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10			chr19	TogoVar
PIBF1_chr13_72777133_73021461	72858023	T T	TTGCTTTG others(12): Show TTGCTTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0198 a0001c0001t0009g0198	1	346	0.0029	19	c.132 others(38): Show c.1322+3870_1322+3871insCTTTGTGTGTGTGTGTGTG	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72858023	T T	TTGCTTTT others(12): Show TTGCTTTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG04204.hp1 HG01070.hp2 HG01071.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0290 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0290	3	346	0.0087	19	c.132 others(38): Show c.1322+3870_1322+3871insCTTTTTGTGTGTGTGTGTG	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr13	TogoVar

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