Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PCYOX1_chr2_70253137_70286185	70283096	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0006 a0001c0003t0006g0006	1	424	0.0024	17	c.57 others(28): Show c.5704_*5705insAAAAAAAAAAAAAAAAA	PCYOX1	ENSG00000116005.12	transcript	ENST00000433351.7	protein_coding		1912		chr2	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0174 a0001c0001t0090g0174	1	260	0.0039	17	c.117 others(34): Show c.117+9497_117+9498insATATATATATATTTTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02698.hp1 NA18954.hp1 HG01261.hp1 HG02698.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0048 a0001c0001t0001 a0001c0001t0002 a0001c0001t0048	a0001c0001t0001g0087 a0001c0001t0002g0086 a0001c0001t0048g0088 a0001c0001t0001g0087 a0001c0001t0002g0086 a0001c0001t0048g0088	3	260	0.0115	17	c.117 others(34): Show c.117+9497_117+9498insATATATATATATATATT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PDCD6_chr5_266646_319974	318246	C C	CACCTCCC others(10): Show CACCTCCCCCCATCCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	360	0.0028	17	c.37 others(28): Show c.3731_*3732insACCTCCCCCCATCCTTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3273		chr5	TogoVar
PDCD6_chr5_266646_319974	318260	C C	CTTTACCT others(10): Show CTTTACCTCCCCCCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01192.hp2 HG01346.hp1 others(4): Show HG00099.hp1 HG01192.hp2 HG01346.hp1 HG02698.hp2 HG02735.hp1 NA18968.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0080 a0001c0002t0001g0042 a0001c0002t0001g0043 others(4): Show a0001c0001t0002g0080 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0140	7	360	0.0194	17	c.37 others(28): Show c.3745_*3746insTTTACCTCCCCCCATCT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3287		chr5	TogoVar
PDCD6_chr5_266646_319974	318317	C C	CCTCCCCC others(10): Show CCTCCCCCCTCCCTTCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0292 a0002c0003t0001g0292	1	360	0.0028	17	c.38 others(28): Show c.3802_*3803insCTCCCCCCTCCCTTCAT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3344		chr5	TogoVar
PDCL2_chr4_55551519_55597245	55571686	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01069.hp1 others(17): Show HG00099.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01123.hp1 HG01255.hp2 HG01433.hp1 HG01978.hp2 HG02135.hp2 HG02280.hp1 HG02293.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG03453.hp1 HG03491.hp2 HG03834.hp2 NA18995.hp1 NA19076.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0115 others(11): Show a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0115 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0002g0076	20	376	0.0532	17	c.219 others(34): Show c.219-1826_219-1825insTTTTTTTTTTTTTTTTT	PDCL2	ENSG00000163440.12	transcript	ENST00000295645.9	protein_coding	3/5			chr4	TogoVar
PDCL2_chr4_55551519_55597245	55593359	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	376	0.0027	17	c.-12 others(28): Show c.-1251_-1250insTTTTTTTTTTTTTTTTT	PDCL2	ENSG00000163440.12	transcript	ENST00000295645.9	protein_coding		1115		chr4	TogoVar
PDC_chr1_186438566_186466114	186455797	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02155.hp1 HG02602.hp1 others(6): Show HG00621.hp1 HG02155.hp1 HG02602.hp1 HG03492.hp1 NA18948.hp2 NA18967.hp1 NA18978.hp2 NA18990.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0118 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0151	9	404	0.0223	17	c.-25 others(34): Show c.-25+5245_-25+5261dupTTTTTTTTTTTTTTTTT	PDC	ENSG00000116703.14	transcript	ENST00000391997.3	protein_coding	1/3			chr1	TogoVar
PDC_chr1_186438566_186466114	186459781	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp2 HG02132.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0309 a0001c0001t0001g0310	2	404	0.0050	17	c.-25 others(34): Show c.-25+1277_-25+1278insTATATATATATATATAT	PDC	ENSG00000116703.14	transcript	ENST00000391997.3	protein_coding	1/3			chr1	TogoVar
PDE10A_chr6_165322289_165668241	165498423	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	222	0.0045	17	c.995 others(36): Show c.995-16097_995-16081dupTTTTTTTTTTTTTTTTT	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	2/21			chr6	TogoVar
PDE11A_chr2_177618244_178077777	177631322	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG03130.hp2 others(1): Show HG02486.hp1 HG02559.hp2 HG03130.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0001t0014 a0001c0003t0014 a0001c0001t0008 a0001c0001t0014 a0001c0003t0014	a0001c0001t0008g0086 a0001c0001t0008g0148 a0001c0001t0014g0065 others(1): Show a0001c0001t0008g0086 a0001c0001t0008g0148 a0001c0001t0014g0065 a0001c0003t0014g0151	4	170	0.0235	17	c.264 others(36): Show c.2647-1761_2647-1760insGTTTTTTTTTTTTTTTT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	19/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177737449	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18942.hp1 HG01978.hp1 NA18942.hp1	a0002 a0002	a0002c0004 a0002c0021 a0002c0004 a0002c0021	a0002c0004t0004 a0002c0021t0001 a0002c0004t0004 a0002c0021t0001	a0002c0004t0004g0118 a0002c0021t0001g0110 a0002c0004t0004g0118 a0002c0021t0001g0110	2	170	0.0118	17	c.178 others(36): Show c.1789-9278_1789-9277insGTGTGTGTGTGTGTGTG	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	10/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177819860	T T	TTCTCTTC others(10): Show TTCTCTTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0039 a0001c0001t0011g0039	1	170	0.0059	17	c.157 others(34): Show c.1576+359_1576+360insGAGAGAGAGAGAAGAGA	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	7/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177957910	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02630.hp1 HG02886.hp1 others(7): Show HG00558.hp1 HG02630.hp1 HG02886.hp1 HG03225.hp1 HG03486.hp2 NA18939.hp1 NA18942.hp2 NA18966.hp1 NA19068.hp1 NA20129.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0002c0034 others(1): Show a0001c0001 a0002c0002 a0002c0034 a0012c0024	a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 others(6): Show a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 a0001c0001t0046 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0034t0006 a0012c0024t0012	a0001c0001t0011g0039 a0001c0001t0013g0036 a0001c0001t0021g0042 others(7): Show a0001c0001t0011g0039 a0001c0001t0013g0036 a0001c0001t0021g0042 a0001c0001t0046g0043 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0004g0035 a0002c0002t0006g0028 a0002c0034t0006g0168 a0012c0024t0012g0041	10	170	0.0588	17	c.107 others(38): Show c.1072-52724_1072-52723insAAAAAAAAAAAAAAAAA	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182358960	C C	CCCTTCCT others(10): Show CCCTTCCTTCCTTTCCTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0104 a0001c0001t0013g0104	1	264	0.0038	17	c.53+ others(34): Show c.53+67601_53+67617dupAAGGAAAGGAAGGAAGG	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182364466	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA19082.hp1 NA18991.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0147 a0001c0001t0021g0203 a0001c0001t0004g0147 a0001c0001t0021g0203	2	264	0.0076	17	c.53+ others(34): Show c.53+62095_53+62111dupTTTTTTTTTTTTTTTTT	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182385661	A A	AAGAAAGA others(10): Show AAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0159 a0001c0001t0007g0159	1	264	0.0038	17	c.53+ others(34): Show c.53+40916_53+40917insCTTCTTTCTTTCTTTCT	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182403598	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03130.hp2 HG03471.hp1 others(4): Show HG03098.hp1 HG03130.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 others(3): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026	a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0011g0012 others(4): Show a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0011g0012 a0001c0001t0015g0020 a0001c0001t0022g0007 a0001c0001t0025g0013 a0001c0001t0026g0005	7	264	0.0265	17	c.53+ others(34): Show c.53+22979_53+22980insTTTTTTTTTTTTTTTTT	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE1B_chr12_54544601_54584239	54572132	C C	CTTCTCAA others(10): Show CTTCTCAAAGGAGAGGGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp1 HG03195.hp1 HG02258.hp2 HG03139.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0006 a0001c0001t0002 a0001c0002t0006	a0001c0001t0002g0299 a0001c0002t0006g0046 a0001c0001t0002g0299 a0001c0002t0006g0046	3	430	0.0070	17	c.595 others(32): Show c.595-469_595-468insTTCTCAAAGGAGAGGGT	PDE1B	ENSG00000123360.12	transcript	ENST00000243052.8	protein_coding	6/15			chr12	TogoVar
PDE1C_chr7_31746179_32075407	31930848	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0027 a0001c0001t0014g0027	1	262	0.0038	17	c.129 others(36): Show c.129-50005_129-49989dupTTTTTTTTTTTTTTTTT	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE3A_chr12_20363537_20693583	20368458	C C	CCTTCTCA others(10): Show CCTTCTCACCCTCCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0125 a0001c0001t0065g0125	1	198	0.0051	17	c.-82 others(26): Show c.-827_-826insCTTCTCACCCTCCCTTT	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding		78		chr12	TogoVar
PDE3A_chr12_20363537_20693583	20385999	T T	TATATAAA others(10): Show TATATAAATATATATAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0046 a0001c0001t0015g0046	1	198	0.0051	17	c.960 others(36): Show c.960+15760_960+15761insAATATATATAAAATATA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20481764	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0137 a0002c0002t0137	a0002c0002t0137g0193 a0002c0002t0137g0193	1	198	0.0051	17	c.961 others(36): Show c.961-74890_961-74874dupTTTTTTTTTTTTTTTTT	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20687914	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01071.hp1 HG02922.hp2 HG01071.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0082 a0001c0001t0071 a0001c0001t0082	a0001c0001t0071g0196 a0001c0001t0082g0064 a0001c0001t0071g0196 a0001c0001t0082g0064	2	198	0.0101	17	c.76 others(28): Show c.7650_*7666dupAAAAAAAAAAAAAAAAA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	16/16	7667	INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE4B_chr1_65787895_66379574	65887247	T T	TTTCTTTT others(10): Show TTTCTTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0033 a0001c0001t0006g0033	1	118	0.0085	17	c.-70 others(36): Show c.-70-25996_-70-25995insCTTTTCTTTTCTTTCTT	PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4B_chr1_65787895_66379574	65887414	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03041.hp2 HG02559.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0001 a0001c0001t0009 a0001c0002t0001	a0001c0001t0009g0038 a0001c0002t0001g0075 a0001c0001t0009g0038 a0001c0002t0001g0075	2	118	0.0170	17	c.-70 others(36): Show c.-70-25823_-70-25807dupTTTTTTTTTTTTTTTTT	PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4B_chr1_65787895_66379574	65924077	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01109.hp2 HG01261.hp1 others(12): Show HG01069.hp2 HG01109.hp2 HG01261.hp1 HG01516.hp2 HG02109.hp1 HG02148.hp1 HG02922.hp2 HG02965.hp2 HG03209.hp1 HG03453.hp1 HG03540.hp2 HG03654.hp2 HG04199.hp1 NA18947.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0004 a0001c0001t0001g0056 a0001c0001t0001g0066 others(12): Show a0001c0001t0001g0004 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0096 a0001c0001t0001g0114 a0001c0001t0003g0027 a0001c0001t0003g0049 a0001c0001t0005g0059 a0001c0001t0005g0086 a0001c0001t0005g0089 a0001c0001t0008g0057 a0001c0002t0001g0012 a0001c0002t0001g0098 a0001c0002t0001g0116 a0001c0002t0004g0005	15	118	0.1271	17	c.281 others(34): Show c.281+5257_281+5258insTTTTTTTTTTTTTTTTT	PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4B_chr1_65787895_66379574	66090616	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0059	1	118	0.0085	17	c.282 others(38): Show c.282-156844_282-156843insTATATATATATATATAT	PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16			chr1	TogoVar
PDE4D_chr5_58964038_59898726	59649904	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01071.hp1 HG01515.hp2 others(3): Show HG00140.hp2 HG01071.hp1 HG01515.hp2 HG03017.hp1 NA18983.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0012	a0001c0001t0001g0051 a0001c0001t0002g0036 a0001c0001t0002g0039 others(3): Show a0001c0001t0001g0051 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0064 a0001c0001t0008g0057 a0001c0001t0012g0061	6	74	0.0811	17	c.455 others(38): Show c.455+243263_455+243264insAAAAAAAAAAAAAAAAA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14			chr5	TogoVar
PDE5A_chr4_119489403_119633804	119592456	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0007 a0005c0009t0007	a0005c0009t0007g0148 a0005c0009t0007g0148	1	336	0.0030	17	c.831 others(34): Show c.831+4050_831+4066dupTTTTTTTTTTTTTTTTT	PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding	3/20			chr4	TogoVar
PDE6A_chr5_149852953_149949793	149889081	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01074.hp1 HG01517.hp2 others(13): Show HG00280.hp2 HG01074.hp1 HG01517.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02970.hp1 HG03209.hp1 HG03471.hp1 HG03688.hp1 HG03927.hp2 NA18951.hp2 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0007 a0004c0014 a0010c0029	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0002t0006 a0001c0002t0007 a0001c0005t0006 a0002c0003t0001 a0002c0003t0043 a0003c0007t0001 a0004c0014t0025 a0010c0029t0065	a0001c0001t0001g0022 a0001c0001t0001g0052 a0001c0001t0001g0127 others(13): Show a0001c0001t0001g0022 a0001c0001t0001g0052 a0001c0001t0001g0127 a0001c0001t0003g0202 a0001c0001t0008g0123 a0001c0001t0008g0144 a0001c0001t0010g0077 a0001c0001t0011g0106 a0001c0002t0006g0281 a0001c0002t0007g0264 a0001c0005t0006g0325 a0002c0003t0001g0213 a0002c0003t0043g0214 a0003c0007t0001g0318 a0004c0014t0025g0013 a0010c0029t0065g0225	16	328	0.0488	17	c.172 others(36): Show c.1729-2724_1729-2708dupTTTTTTTTTTTTTTTTT	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	13/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149906519	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp2 HG03516.hp2 HG01884.hp1 HG02976.hp2 HG03516.hp2	a0002 a0002	a0002c0003 a0002c0012 a0002c0003 a0002c0012	a0002c0003t0011 a0002c0012t0006 a0002c0012t0018 a0002c0003t0011 a0002c0012t0006 a0002c0012t0018	a0002c0003t0011g0217 a0002c0012t0006g0212 a0002c0012t0018g0216 a0002c0003t0011g0217 a0002c0012t0006g0212 a0002c0012t0018g0216	3	328	0.0092	17	c.106 others(34): Show c.1065+776_1065+792dupTTTTTTTTTTTTTTTTT	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	7/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0168 a0001c0001t0030g0168	1	328	0.0031	17	c.858 others(34): Show c.858+2796_858+2797insAAAAAAAAATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01074.hp2 others(11): Show HG00323.hp1 HG00642.hp2 HG01074.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp1 HG02293.hp2 HG02451.hp1 HG02965.hp1 HG03654.hp1 HG03834.hp1 NA18999.hp1 NA18999.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0023 a0001c0001 a0001c0004 a0001c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0004t0006 a0001c0023t0008	a0001c0001t0001g0065 a0001c0001t0001g0139 a0001c0001t0001g0160 others(11): Show a0001c0001t0001g0065 a0001c0001t0001g0139 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0002g0162 a0001c0001t0004g0163 a0001c0001t0005g0159 a0001c0001t0014g0133 a0001c0004t0006g0132 a0001c0023t0008g0164	14	328	0.0427	17	c.858 others(34): Show c.858+2796_858+2797insAAAAAAAAAAATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	328	0.0031	17	c.858 others(34): Show c.858+2796_858+2797insAAAAAAAAAAAAATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0144 a0001c0001t0008g0144	1	328	0.0031	17	c.858 others(34): Show c.858+2796_858+2797insAAAAAAAAAAAAAAATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6B_chr4_620573_675782	628196	A A	AGCCTCAT others(10): Show AGCCTCATGAAGTGCATC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01358.hp2 HG02622.hp2 others(2): Show HG00642.hp2 HG01358.hp2 HG02622.hp2 HG02683.hp1 HG03490.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0004c0007 a0009c0032 a0001c0001 a0004c0007 a0009c0032	a0001c0001t0006 a0004c0007t0008 a0009c0032t0008 a0001c0001t0006 a0004c0007t0008 a0009c0032t0008	a0001c0001t0006g0255 a0004c0007t0008g0252 a0004c0007t0008g0253 others(2): Show a0001c0001t0006g0255 a0004c0007t0008g0252 a0004c0007t0008g0253 a0004c0007t0008g0254 a0009c0032t0008g0256	5	308	0.0162	17	c.468 others(34): Show c.468+2103_468+2119dupGCCTCATGAAGTGCATC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6D_chr2_231727433_231786282	231781626	G G	GACCACAG others(10): Show GACCACAGATCCCAGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG01069.hp2 others(43): Show HG00408.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01978.hp1 HG01981.hp2 HG02165.hp1 HG02523.hp1 HG02602.hp1 HG02717.hp1 HG02735.hp2 HG03239.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp2 NA18522.hp2 NA18747.hp2 NA18948.hp2 NA18949.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18969.hp1 NA18984.hp2 NA18991.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19065.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 others(39): Show a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0235	46	266	0.1729	17	c.-52 others(26): Show c.-529_-513dupGCGCTGGGATCTGTGGT	PDE6D	ENSG00000156973.14	transcript	ENST00000287600.9	protein_coding		345		chr2	TogoVar
PDE6H_chr12_14968042_14986865	14982038	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0035 a0001c0002t0004g0035	1	448	0.0022	17	c.56 others(26): Show c.562_*563insTTTTTTTTTTTTTTTTT	PDE6H	ENSG00000139053.3	transcript	ENST00000266395.3	protein_coding		174		chr12	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0082 a0001c0001t0013g0082	1	248	0.0040	17	c.139 others(36): Show c.139-15364_139-15363insAAATATATATATATATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0075 a0001c0001t0018g0075	1	248	0.0040	17	c.139 others(36): Show c.139-15364_139-15363insAAAAAAAAATATATATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE8A_chr15_84976856_85144142	85017887	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0137 a0006c0009t0001g0137	1	344	0.0029	17	c.186 others(36): Show c.186+35551_186+35552insAAAAAAAAAAAAAAAAA	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE8B_chr5_77205680_77433256	77397026	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0135 a0001c0003t0007g0135	1	314	0.0032	17	c.116 others(36): Show c.1168-3214_1168-3198dupTTTTTTTTTTTTTTTTT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE8B_chr5_77205680_77433256	77423632	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	314	0.0032	17	c.241 others(36): Show c.2418+1655_2418+1671dupTTTTTTTTTTTTTTTTT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDGFA_chr7_492258_524846	499720	T T	TCCCCCCA others(10): Show TCCCCCCACCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0108 a0001c0003t0003g0108	1	302	0.0033	17	c.581 others(34): Show c.581-1147_581-1146insGGGGGGGGGGTGGGGGG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	5/5			chr7	TogoVar
PDGFA_chr7_492258_524846	499720	T T	TCCCCCCC others(10): Show TCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19084.hp2 NA18995.hp2 NA19084.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0017 a0001c0001 a0016c0017	a0001c0001t0106 a0016c0017t0007 a0001c0001t0106 a0016c0017t0007	a0001c0001t0106g0196 a0016c0017t0007g0250 a0001c0001t0106g0196 a0016c0017t0007g0250	2	302	0.0066	17	c.581 others(34): Show c.581-1147_581-1146insGGGGGGGGGGGGGGGGG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	5/5			chr7	TogoVar
PDGFC_chr4_156755454_156976799	156891279	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	208	0.0048	17	c.119 others(36): Show c.119-40880_119-40864dupTTTTTTTTTTTTTTTTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA19078.hp1 HG00323.hp2 NA19078.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0015 a0001c0002t0001g0003 a0001c0002t0001g0015	2	400	0.0050	17	c.353 others(32): Show c.353+475_353+491dupAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(10): Show TCCCCGCCCCCCCCAACC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0202 a0001c0002t0001g0202	1	400	0.0025	17	c.940 others(32): Show c.940-710_940-709insCCCCCCAACCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar

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