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 per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PCGF3_chr4_700832_775089	701973	C C	CAAAGAAA others(18): Show CAAAGAAAAGAAAAGAAAAGAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02258.hp2 NA21309.hp1 HG01255.hp2 HG02258.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0318 a0001c0001t0004g0244 a0001c0001t0004g0289 a0001c0001t0003g0318 a0001c0001t0004g0244 a0001c0001t0004g0289	3	366	0.0082	25	c.-41 others(36): Show c.-4187_-4186insAAAGAAAAGAAAAGAAAAGAAAAGA	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding		3858		chr4	TogoVar
PCGF6_chr10_103297796_103356140	103302452	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	372	0.0027	25	c.14 others(36): Show c.1452_*1453insAAAAAAAAAAAAAAAAAAAAAAAAA	PCGF6	ENSG00000156374.16	transcript	ENST00000369847.4	protein_coding		343		chr10	TogoVar
PCLO_chr7_82749012_83167884	83038057	A A	AATATATA others(18): Show AATATATATTTTTATATATATATATT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0046 a0046	a0046c0077 a0046c0077	a0046c0077t0003 a0046c0077t0003	a0046c0077t0003g0012 a0046c0077t0003g0012	1	188	0.0053	25	c.330 others(46): Show c.3301-71571_3301-71570insAATATATATATATAAAAATATATA T	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83050208	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0045 a0045	a0045c0075 a0045c0075	a0045c0075t0003 a0045c0075t0003	a0045c0075t0003g0138 a0045c0075t0003g0138	1	188	0.0053	25	c.330 others(46): Show c.3301-83746_3301-83722dupTTTTTTTTTTTTTTTTTTTTTTTT T	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83093492	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0108 a0002c0004t0007g0108	1	188	0.0053	25	c.330 others(46): Show c.3300+40757_3300+40758insAAAAAAAAAAAAAAATATATATAT A	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCMT1_chr6_149744741_149816419	149758208	C C	CTTTCTTT others(18): Show CTTTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	334	0.0030	25	c.55+ others(40): Show c.55+8255_55+8256insCTTTTTTTTTTTTTTTTTTTTTTTT	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PCNT_chr21_46319156_46450769	46400579	C C	CGCAATCT others(18): Show CGCAATCTTGGCTCGAGTGCAGTGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00621.hp1 others(55): Show HG00099.hp2 HG00438.hp2 HG00621.hp1 HG00642.hp2 HG01074.hp2 HG01099.hp1 HG01175.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02809.hp1 HG02970.hp2 HG03139.hp2 HG03239.hp1 HG03688.hp1 HG03942.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18964.hp1 NA18965.hp2 NA18971.hp1 NA18977.hp2 NA18983.hp1 NA18986.hp1 NA18990.hp2 NA19000.hp1 NA19004.hp1 NA19012.hp1 NA19056.hp1 NA19057.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19090.hp1	a0003 a0010 a0012 others(8): Show a0003 a0010 a0012 a0013 a0027 a0030 a0031 a0032 a0033 a0034 a0035	a0003c0003 a0003c0080 a0003c0084 others(10): Show a0003c0003 a0003c0080 a0003c0084 a0010c0010 a0012c0013 a0013c0015 a0027c0090 a0030c0041 a0031c0085 a0032c0083 a0033c0081 a0034c0082 a0035c0079	a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 others(12): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0080t0001 a0003c0084t0001 a0010c0010t0001 a0012c0013t0002 a0013c0015t0001 a0027c0090t0001 a0030c0041t0001 a0031c0085t0001 a0032c0083t0001 a0033c0081t0001 a0034c0082t0001 a0035c0079t0002	a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0132 others(55): Show a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0147 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0158 a0003c0003t0001g0162 a0003c0003t0001g0164 a0003c0003t0001g0165 a0003c0003t0001g0169 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0002g0157 a0003c0003t0005g0170 a0003c0080t0001g0161 a0003c0084t0001g0163 a0010c0010t0001g0137 a0010c0010t0001g0148 a0010c0010t0001g0149 a0010c0010t0001g0150 a0010c0010t0001g0220 a0010c0010t0001g0225 a0012c0013t0002g0144 a0012c0013t0002g0145 a0012c0013t0002g0174 a0012c0013t0002g0175 a0012c0013t0002g0176 a0013c0015t0001g0226 a0013c0015t0001g0227 a0013c0015t0001g0228 a0013c0015t0001g0229 a0027c0090t0001g0230 a0030c0041t0001g0159 a0031c0085t0001g0167 a0032c0083t0001g0209 a0033c0081t0001g0221 a0034c0082t0001g0218 a0035c0079t0002g0160	58	332	0.1747	25	c.479 others(42): Show c.4791+790_4791+791insTGGCTCGAGTGCAGTGGTGCAATCT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	25/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNX1_chr14_70902459_71120382	70971115	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0279 a0001c0002t0003g0280 a0001c0002t0003g0279 a0001c0002t0003g0280	2	352	0.0057	25	c.604 others(42): Show c.604+2021_604+2045dupTTTTTTTTTTTTTTTTTTTTTTTTT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	5/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	71119426	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0060 a0001c0002t0007g0060	1	352	0.0028	25	c.94 others(36): Show c.9491_*9492insTTTTTTTTTTTTTTTTTTTTTTTTT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding		4045		chr14	TogoVar
PCNX1_chr14_70902459_71120382	71119428	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 NA18612.hp1 NA18747.hp2 others(6): Show HG02965.hp2 NA18612.hp1 NA18747.hp2 NA18957.hp1 NA18984.hp1 NA18998.hp2 NA19054.hp2 NA19064.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 a0001c0002 a0001c0004 a0001c0006	a0001c0002t0005 a0001c0002t0009 a0001c0002t0047 others(3): Show a0001c0002t0005 a0001c0002t0009 a0001c0002t0047 a0001c0004t0005 a0001c0004t0014 a0001c0006t0029	a0001c0002t0005g0068 a0001c0002t0005g0074 a0001c0002t0009g0077 others(6): Show a0001c0002t0005g0068 a0001c0002t0005g0074 a0001c0002t0009g0077 a0001c0002t0009g0103 a0001c0002t0047g0111 a0001c0004t0005g0083 a0001c0004t0005g0093 a0001c0004t0014g0097 a0001c0006t0029g0122	9	352	0.0256	25	c.94 others(36): Show c.9493_*9494insTTTTTTTTTTTTTTTTTTTTTTTTT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding		4047		chr14	TogoVar
PCOLCE_chr7_100597363_100613175	100607149	G G	GGGAGGAT others(18): Show GGGAGGATTGCTTGAGCTGGGAAGGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	332	0.0030	25	c.941 others(40): Show c.941-302_941-278dupGGAGGATTGCTTGAGCTGGGAAGGT	PCOLCE	ENSG00000106333.13	transcript	ENST00000223061.6	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
PCSK2_chr20_17222040_17489578	17484865	G G	GATAGAAT others(18): Show GATAGAATAGAATAGAATAGAATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00438.hp1 others(47): Show HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01243.hp1 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG02074.hp1 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03130.hp1 HG03239.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03831.hp1 NA18947.hp2 NA18948.hp1 NA18971.hp1 NA18971.hp2 NA18982.hp1 NA18994.hp2 NA19000.hp1 NA19002.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0031 a0001c0001t0042 a0001c0002t0048 a0001c0012t0021	a0001c0001t0001g0025 a0001c0001t0001g0148 a0001c0001t0001g0175 others(47): Show a0001c0001t0001g0025 a0001c0001t0001g0148 a0001c0001t0001g0175 a0001c0001t0001g0214 a0001c0001t0001g0245 a0001c0001t0002g0156 a0001c0001t0002g0194 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0259 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0027 a0001c0001t0003g0037 a0001c0001t0003g0042 a0001c0001t0003g0055 a0001c0001t0003g0079 a0001c0001t0003g0135 a0001c0001t0003g0162 a0001c0001t0003g0215 a0001c0001t0003g0220 a0001c0001t0003g0255 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0005g0084 a0001c0001t0005g0090 a0001c0001t0005g0104 a0001c0001t0005g0112 a0001c0001t0006g0122 a0001c0001t0006g0197 a0001c0001t0006g0227 a0001c0001t0006g0261 a0001c0001t0007g0012 a0001c0001t0007g0013 a0001c0001t0008g0182 a0001c0001t0008g0208 a0001c0001t0010g0024 a0001c0001t0010g0029 a0001c0001t0010g0152 a0001c0001t0011g0022 a0001c0001t0014g0006 a0001c0001t0014g0083 a0001c0001t0016g0059 a0001c0001t0016g0091 a0001c0001t0021g0219 a0001c0001t0024g0179 a0001c0001t0031g0069 a0001c0001t0042g0241 a0001c0002t0048g0127 a0001c0012t0021g0033	50	274	0.1825	25	c.27 others(36): Show c.2795_*2796insATAGAATAGAATAGAATAGAATAGA	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding		288		chr20	TogoVar
PCSK2_chr20_17222040_17489578	17484865	G G	GATAGGAT others(18): Show GATAGGATAGAATAGAATAGAATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 NA19043.hp1 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0270 a0001c0001t0012g0136 a0001c0001t0003g0270 a0001c0001t0012g0136	2	274	0.0073	25	c.27 others(36): Show c.2795_*2796insATAGGATAGAATAGAATAGAATAGA	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding		288		chr20	TogoVar
PCSK5_chr9_75885673_76367975	75902214	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0054 a0003c0010t0054	a0003c0010t0054g0083 a0003c0010t0054g0083	1	166	0.0060	25	c.192 others(44): Show c.192+10846_192+10870dupAAAAAAAAAAAAAAAAAAAAAAAAA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76345182	A A	ATTATTTT others(18): Show ATTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0006 a0006	a0006c0067 a0006c0067	a0006c0067t0001 a0006c0067t0001	a0006c0067t0001g0058 a0006c0067t0001g0058	1	166	0.0060	25	c.496 others(44): Show c.4967-5637_4967-5613dupTTTTATTTTATTTTATTTTATTTTA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101311482	T T	TTCCATCA others(18): Show TTCCATCAGGAGTGAAGACGCTGGGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0055 a0004c0014t0001g0055	1	336	0.0030	25	c.269 others(44): Show c.2699+1893_2699+1894insGCCCAGCGTCTTCACTCCTGATGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311672	C C	CCACCCCA others(18): Show CCACCCCATCGTCACCCCTCACAGCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp2 HG01071.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0198 a0001c0011t0001g0202 a0001c0011t0001g0218 a0001c0011t0001g0198 a0001c0011t0001g0202 a0001c0011t0001g0218	3	336	0.0089	25	c.269 others(44): Show c.2699+1703_2699+1704insAGCTGTGAGGGGTGACGATGGGGTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311772	C C	CCACCCCA others(18): Show CCACCCCATCATCACCCCTCACAGCT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0002 a0001c0037t0002	a0001c0037t0002g0063 a0001c0037t0002g0063	1	336	0.0030	25	c.269 others(44): Show c.2699+1603_2699+1604insAGCTGTGAGGGGTGATGATGGGGTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311910	A A	ACCCCTCA others(18): Show ACCCCTCACAGCTCACCCCATCGTCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0025 a0002c0018t0001g0025	1	336	0.0030	25	c.269 others(44): Show c.2699+1465_2699+1466insGGACGATGGGGTGAGCTGTGAGGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311948	C C	CCACCCCA others(18): Show CCACCCCATCGTCACCCCTCACAGCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0013 a0002c0018t0013	a0002c0018t0013g0031 a0002c0018t0013g0031	1	336	0.0030	25	c.269 others(44): Show c.2699+1427_2699+1428insAGCTGTGAGGGGTGACGATGGGGTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311963	A A	ACCCTCAC others(18): Show ACCCTCACAGCCCACCCCATCGTCAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00741.hp1 others(3): Show HG00597.hp1 HG00639.hp2 HG00741.hp1 HG01168.hp2 HG01169.hp1 HG02647.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0036 a0007c0025	a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 a0001c0036t0001 a0007c0025t0001	a0001c0001t0001g0236 a0001c0003t0001g0090 a0001c0003t0001g0106 others(3): Show a0001c0001t0001g0236 a0001c0003t0001g0090 a0001c0003t0001g0106 a0001c0009t0001g0227 a0001c0036t0001g0110 a0007c0025t0001g0325	6	336	0.0179	25	c.269 others(44): Show c.2699+1388_2699+1412dupGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312084	G G	GTCACCCC others(18): Show GTCACCCCTCACAGCTCACCCCATCA	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18984.hp2 HG00558.hp2 NA18984.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0024 a0001c0001 a0003c0024	a0001c0001t0004 a0003c0024t0004 a0001c0001t0004 a0003c0024t0004	a0001c0001t0004g0152 a0003c0024t0004g0315 a0001c0001t0004g0152 a0003c0024t0004g0315	2	336	0.0060	25	c.269 others(44): Show c.2699+1291_2699+1292insTGATGGGGTGAGCTGTGAGGGGTGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312089	A A	ACCCTCAC others(18): Show ACCCTCACAGCCCACCCCATCGTCAC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19004.hp2 NA18983.hp1 NA19004.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0023 a0001c0002 a0003c0023	a0001c0002t0001 a0003c0023t0001 a0001c0002t0001 a0003c0023t0001	a0001c0002t0001g0188 a0003c0023t0001g0311 a0001c0002t0001g0188 a0003c0023t0001g0311	2	336	0.0060	25	c.269 others(44): Show c.2699+1262_2699+1286dupGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312100	C C	CCACCCCA others(18): Show CCACCCCATCGTCACCCCTCACAGCT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0002 a0001c0037t0002	a0001c0037t0002g0063 a0001c0037t0002g0063	1	336	0.0030	25	c.269 others(44): Show c.2699+1275_2699+1276insAGCTGTGAGGGGTGACGATGGGGTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312150	C C	CCACCCCA others(18): Show CCACCCCATCGTCACCCCTCACAGCT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0124 a0001c0012t0002g0124	1	336	0.0030	25	c.269 others(44): Show c.2699+1201_2699+1225dupAGCTGTGAGGGGTGACGATGGGGTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312185	G G	GTCACCCC others(18): Show GTCACCCCTCACAGCCCACCCCATCA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp2 HG02145.hp2 others(5): Show HG00735.hp2 HG01243.hp2 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02886.hp2 HG03516.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0019	a0001c0006 a0001c0019 a0002c0008 others(3): Show a0001c0006 a0001c0019 a0002c0008 a0004c0014 a0006c0030 a0019c0033	a0001c0006t0001 a0001c0019t0001 a0002c0008t0001 others(3): Show a0001c0006t0001 a0001c0019t0001 a0002c0008t0001 a0004c0014t0001 a0006c0030t0001 a0019c0033t0001	a0001c0006t0001g0037 a0001c0006t0001g0111 a0001c0006t0001g0115 others(5): Show a0001c0006t0001g0037 a0001c0006t0001g0111 a0001c0006t0001g0115 a0001c0019t0001g0306 a0002c0008t0001g0020 a0004c0014t0001g0055 a0006c0030t0001g0003 a0019c0033t0001g0028	8	336	0.0238	25	c.269 others(44): Show c.2699+1190_2699+1191insTGATGGGGTGGGCTGTGAGGGGTGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101392593	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0142 a0001c0003t0001g0142	1	336	0.0030	25	c.120 others(42): Show c.1209+618_1209+619insAAAAAAAAAAAAAAAAAAAAAAAAA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	8/21			chr15	TogoVar
PCSK7_chr11_117199337_117237073	117215364	T T	TTTTTGTG others(18): Show TTTTTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0265 a0001c0012t0002g0265	1	460	0.0022	25	c.153 others(44): Show c.1534+3101_1534+3102insCACACACACACACACACACACAAAA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	260	0.0039	25	c.117 others(42): Show c.117+9497_117+9498insATATATATATATATATATATATATT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24648449	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03098.hp1 HG03041.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0068 a0001c0002t0003 a0001c0002t0068	a0001c0002t0003g0188 a0001c0002t0068g0185 a0001c0002t0003g0188 a0001c0002t0068g0185	2	260	0.0077	25	c.-13 others(36): Show c.-1369_-1345dupAAAAAAAAAAAAAAAAAAAAAAAAA	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding		1103		chrX	TogoVar
PC_chr11_66843420_66963383	66886273	G G	GGAAGCAA others(18): Show GGAAGCAAACAGCCTGGCGTGGCCCA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0264 a0006c0008t0001g0264	1	274	0.0037	25	c.1-1 others(40): Show c.1-14115_1-14114insTGGGCCACGCCAGGCTGTTTGCTTC	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding	3/22			chr11	TogoVar
PDCL2_chr4_55551519_55597245	55587216	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19030.hp2 HG03139.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0154 a0001c0001t0001g0111 a0001c0001t0001g0154	2	376	0.0053	25	c.6+4 others(38): Show c.6+4863_6+4887dupTTTTTTTTTTTTTTTTTTTTTTTTT	PDCL2	ENSG00000163440.12	transcript	ENST00000295645.9	protein_coding	1/5			chr4	TogoVar
PDE10A_chr6_165322289_165668241	165542612	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG01891.hp2 HG02572.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0012 a0001c0006 a0002c0012	a0001c0006t0002 a0002c0012t0001 a0001c0006t0002 a0002c0012t0001	a0001c0006t0002g0214 a0002c0012t0001g0205 a0001c0006t0002g0214 a0002c0012t0001g0205	2	222	0.0090	25	c.994 others(40): Show c.994+803_994+827dupAAAAAAAAAAAAAAAAAAAAAAAAA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	2/21			chr6	TogoVar
PDE10A_chr6_165322289_165668241	165618974	G G	GTAGACTA others(18): Show GTAGACTAGTGTAGTGTAGTGTAGTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG03041.hp2 others(2): Show HG01243.hp2 HG02109.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0027	a0001c0001t0003 a0001c0002t0005 a0001c0002t0027 others(2): Show a0001c0001t0003 a0001c0002t0005 a0001c0002t0027 a0001c0008t0005 a0002c0027t0037	a0001c0001t0003g0110 a0001c0002t0005g0073 a0001c0002t0027g0084 others(2): Show a0001c0001t0003g0110 a0001c0002t0005g0073 a0001c0002t0027g0084 a0001c0008t0005g0074 a0002c0027t0037g0222	5	222	0.0225	25	c.865 others(44): Show c.865+42972_865+42973insTACTACACTACACTACACTAGTCTA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PDE10A_chr6_165322289_165668241	165619244	G G	GTAGTGTA others(18): Show GTAGTGTAGTCTAGTGTAGTGTAGTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02922.hp1 others(2): Show HG02280.hp2 HG02486.hp2 HG02922.hp1 HG03041.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0002c0012	a0001c0001t0009 a0001c0002t0003 a0001c0005t0002 others(2): Show a0001c0001t0009 a0001c0002t0003 a0001c0005t0002 a0001c0008t0003 a0002c0012t0002	a0001c0001t0009g0124 a0001c0002t0003g0123 a0001c0005t0002g0129 others(2): Show a0001c0001t0009g0124 a0001c0002t0003g0123 a0001c0005t0002g0129 a0001c0008t0003g0108 a0002c0012t0002g0204	5	222	0.0225	25	c.865 others(44): Show c.865+42678_865+42702dupGACTACACTACACTAGACTACACTA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PDE1A_chr2_182135041_182432036	182385640	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0249 a0001c0001t0007g0249	1	264	0.0038	25	c.53+ others(42): Show c.53+40937_53+40938insTCTTTCTTTCTTTCTTTCTTTCTTT	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE1C_chr7_31746179_32075407	31825464	T T	TTGGGAAG others(18): Show TTGGGAAGGCAGGTTATCGACAGCTC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	262	0.0038	25	c.128 others(42): Show c.1286-502_1286-478dupGAGCTGTCGATAACCTGCCTTCCCA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	12/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886770	A A	AGATCTAT others(18): Show AGATCTATTCAGAATAGATCTTTTCG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01884.hp1 others(14): Show HG01167.hp2 HG01169.hp1 HG01884.hp1 HG02109.hp2 HG02145.hp2 HG02630.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03486.hp2 HG03834.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 others(2): Show a0001c0001 a0001c0005 a0001c0008 a0001c0017 a0001c0018	a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 a0001c0005t0007 a0001c0008t0001 a0001c0017t0002 a0001c0018t0002	a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0001t0001g0109 others(14): Show a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0001t0003g0052 a0001c0001t0003g0116 a0001c0005t0003g0019 a0001c0005t0003g0020 a0001c0005t0003g0085 a0001c0005t0007g0001 a0001c0005t0007g0004 a0001c0008t0001g0246 a0001c0008t0001g0247 a0001c0017t0002g0130 a0001c0018t0002g0009	17	262	0.0649	25	c.129 others(42): Show c.129-5935_129-5911dupCGAAAAGATCTATTCTGAATAGATC	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886795	G G	GGATCTTT others(18): Show GGATCTTTTCAGAATAGATCTTTTCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01516.hp2 HG02818.hp1 others(3): Show HG00408.hp1 HG01516.hp2 HG02818.hp1 HG03239.hp1 NA18961.hp2 NA19005.hp2	a0001 a0001	a0001c0004 a0001c0021 a0001c0004 a0001c0021	a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 others(1): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0021t0001	a0001c0004t0001g0031 a0001c0004t0001g0166 a0001c0004t0001g0178 others(3): Show a0001c0004t0001g0031 a0001c0004t0001g0166 a0001c0004t0001g0178 a0001c0004t0002g0032 a0001c0004t0004g0114 a0001c0021t0001g0100	6	262	0.0229	25	c.129 others(42): Show c.129-5936_129-5935insTGAAAAGATCTATTCTGAAAAGATC	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE2A_chr11_72571141_72679422	72655347	A A	AGACAGCC others(18): Show AGACAGCCTGGGGACAATGAGCTTGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(227): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19066.hp1 NA19080.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0018 a0001c0020 a0002c0004 a0003c0009 a0004c0019 a0005c0014 a0006c0017 a0007c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0002t0001 a0001c0002t0012 a0001c0002t0013 a0001c0003t0001 a0001c0003t0005 a0001c0003t0008 a0001c0003t0016 a0001c0005t0003 a0001c0005t0004 a0001c0005t0006 a0001c0005t0017 a0001c0006t0001 a0001c0007t0003 a0001c0008t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0003 a0001c0015t0005 a0001c0016t0001 a0001c0018t0001 a0001c0020t0001 a0002c0004t0001 a0003c0009t0001 a0004c0019t0001 a0005c0014t0001 a0006c0017t0001 a0007c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0034 others(211): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0274 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0009g0264 a0001c0001t0010g0230 a0001c0001t0011g0265 a0001c0001t0015g0112 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0157 a0001c0002t0001g0183 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0213 a0001c0002t0001g0220 a0001c0002t0001g0225 a0001c0002t0001g0240 a0001c0002t0001g0250 a0001c0002t0001g0261 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0012g0185 a0001c0002t0013g0059 a0001c0003t0001g0008 a0001c0003t0001g0012 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0045 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0090 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0096 a0001c0003t0001g0098 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0109 a0001c0003t0001g0111 a0001c0003t0001g0123 a0001c0003t0001g0141 a0001c0003t0001g0161 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0197 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0202 a0001c0003t0001g0209 a0001c0003t0001g0214 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0001g0228 a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0003t0001g0233 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0001g0239 a0001c0003t0001g0243 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0263 a0001c0003t0005g0022 a0001c0003t0005g0023 a0001c0003t0005g0118 a0001c0003t0008g0262 a0001c0003t0016g0206 a0001c0005t0003g0005 a0001c0005t0004g0019 a0001c0005t0004g0020 a0001c0005t0004g0021 a0001c0005t0004g0110 a0001c0005t0004g0258 a0001c0005t0006g0024 a0001c0005t0006g0025 a0001c0005t0006g0026 a0001c0005t0006g0027 a0001c0005t0017g0028 a0001c0006t0001g0108 a0001c0006t0001g0223 a0001c0006t0001g0254 a0001c0006t0001g0255 a0001c0007t0003g0035 a0001c0007t0003g0037 a0001c0007t0003g0038 a0001c0008t0001g0040 a0001c0008t0001g0041 a0001c0010t0001g0018 a0001c0010t0001g0088 a0001c0011t0001g0015 a0001c0012t0001g0064 a0001c0013t0003g0036 a0001c0015t0005g0104 a0001c0016t0001g0082 a0001c0018t0001g0089 a0001c0020t0001g0201 a0002c0004t0001g0011 a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0004t0001g0031 a0002c0004t0001g0032 a0002c0004t0001g0070 a0002c0004t0001g0164 a0002c0004t0001g0167 a0002c0004t0001g0175 a0002c0004t0001g0176 a0002c0004t0001g0177 a0002c0004t0001g0178 a0002c0004t0001g0179 a0002c0004t0001g0180 a0002c0004t0001g0181 a0002c0004t0001g0182 a0002c0004t0001g0203 a0002c0004t0001g0211 a0002c0004t0001g0212 a0002c0004t0001g0215 a0002c0004t0001g0248 a0003c0009t0001g0229 a0004c0019t0001g0189 a0005c0014t0001g0116 a0006c0017t0001g0119 a0007c0021t0001g0062	230	292	0.7877	25	c.72- others(42): Show c.72-13022_72-13021insCCAAGCTCATTGTCCCCAGGCTGTC	PDE2A	ENSG00000186642.16	transcript	ENST00000334456.10	protein_coding	1/30			chr11	TogoVar
PDE3A_chr12_20363537_20693583	20612602	T T	TTATATAA others(18): Show TTATATAAGTAACTATATATAAGTAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18522.hp2 HG02922.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0082 a0002c0002t0111 a0001c0001t0082 a0002c0002t0111	a0001c0001t0082g0064 a0002c0002t0111g0065 a0001c0001t0082g0064 a0002c0002t0111g0065	2	198	0.0101	25	c.101 others(42): Show c.1012-836_1012-812dupTAAGTAACTATATATAAGTAATATA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE4D_chr5_58964038_59898726	59079838	G G	GGGAGAGG others(18): Show GGGAGAGGAGAGGAGAGGAGAGGAGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	74	0.0135	25	c.809 others(44): Show c.809-40868_809-40867insTCTCCTCTCCTCTCCTCTCCTCTCC	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59413457	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0071 a0001c0001t0006g0071	1	74	0.0135	25	c.456 others(46): Show c.456-197490_456-197489insTTTTTTTTTTTTTTTTTTTTTTTT T	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59771493	G G	GAAGAAAG others(18): Show GAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	74	0.0135	25	c.455 others(46): Show c.455+121674_455+121675insTTCTTTCTTTCTTTCTTTCTTTCT T	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149858816	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0055 a0001c0009t0055	a0001c0009t0055g0014 a0001c0009t0055g0014	1	328	0.0031	25	c.20 others(36): Show c.2078_*2079insAAAAAAAAAAAAAAAAAAAAAAAAA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	22/22	2078		chr5	TogoVar
PDE6A_chr5_149852953_149949793	149906519	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02717.hp1 HG03209.hp2 HG01167.hp1 HG02717.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0016 a0001c0004t0006 a0001c0001t0001 a0001c0001t0016 a0001c0004t0006	a0001c0001t0001g0165 a0001c0001t0016g0050 a0001c0004t0006g0115 a0001c0001t0001g0165 a0001c0001t0016g0050 a0001c0004t0006g0115	3	328	0.0092	25	c.106 others(42): Show c.1065+792_1065+793insTTTTTTTTTTTTTTTTTTTTTTTTT	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	7/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03225.hp2 HG03579.hp2 HG03098.hp2 HG03225.hp2 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0034 a0003c0007t0001 a0003c0007t0021 a0001c0002t0034 a0003c0007t0001 a0003c0007t0021	a0001c0002t0034g0313 a0003c0007t0001g0317 a0003c0007t0021g0316 a0001c0002t0034g0313 a0003c0007t0001g0317 a0003c0007t0021g0316	3	328	0.0092	25	c.858 others(42): Show c.858+2796_858+2797insAAATATATATATATATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0245 a0001c0002t0003g0245	1	328	0.0031	25	c.858 others(42): Show c.858+2796_858+2797insAAAAAAAAAAATATATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG04115.hp1 HG01928.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0287 a0001c0005t0001g0326 a0001c0002t0001g0287 a0001c0005t0001g0326	2	328	0.0061	25	c.858 others(42): Show c.858+2796_858+2797insAAAAAAAAAAAAATATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18979.hp1 HG03486.hp2 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0020 a0001c0002t0005 a0001c0002t0020	a0001c0002t0005g0273 a0001c0002t0020g0296 a0001c0002t0005g0273 a0001c0002t0020g0296	2	328	0.0061	25	c.858 others(42): Show c.858+2796_858+2797insAAAAAAAAAAAAAAATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar

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