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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PCNX1_chr14_70902459_71120382	71003080	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03041.hp2 HG03195.hp2 others(1): Show HG02280.hp2 HG03041.hp2 HG03195.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0039 a0001c0003t0013 a0001c0001t0039 a0001c0003t0013	a0001c0001t0039g0006 a0001c0003t0013g0134 a0001c0003t0013g0136 others(1): Show a0001c0001t0039g0006 a0001c0003t0013g0134 a0001c0003t0013g0136 a0001c0003t0013g0142	4	104	0.0385	19	c.263 others(38): Show c.2630-6552_2630-6534dupTTTTTTTTTTTTTTTTTTT		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	8/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	71119428	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00741.hp1 others(26): Show HG00140.hp1 HG00423.hp2 HG00741.hp1 HG01070.hp2 HG01167.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG02056.hp1 HG02486.hp2 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG03492.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 NA18951.hp2 NA18954.hp2 NA18966.hp2 NA18970.hp2 NA18990.hp1 NA18998.hp1 NA19000.hp1 NA19009.hp2 NA19043.hp2 NA19058.hp1 NA19060.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0020 others(1): Show a0001c0001 a0001c0013 a0001c0020 a0001c0022	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0027 a0001c0001t0055 a0001c0001t0060 a0001c0001t0076 a0001c0013t0031 a0001c0020t0010 a0001c0022t0001	a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0185 others(26): Show a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0004g0158 a0001c0001t0004g0161 a0001c0001t0004g0186 a0001c0001t0004g0196 a0001c0001t0008g0157 a0001c0001t0008g0163 a0001c0001t0008g0165 a0001c0001t0008g0167 a0001c0001t0008g0223 a0001c0001t0010g0149 a0001c0001t0010g0204 a0001c0001t0015g0199 a0001c0001t0015g0202 a0001c0001t0027g0191 a0001c0001t0055g0194 a0001c0001t0060g0180 a0001c0001t0076g0198 a0001c0013t0031g0348 a0001c0020t0010g0210 a0001c0022t0001g0184	29	30	0.9667	19	c.94 others(30): Show c.9493_*9494insTTTTTTTTTTTTTTTTTTT		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding					4047		chr14	TogoVar
PCNX2_chr1_232978435_233300725	233169644	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0006 a0006	a0006c0041 a0006c0041	a0006c0041t0002 a0006c0041t0002	a0006c0041t0002g0046 a0006c0041t0002g0046	1	120	0.0083	19	c.327 others(38): Show c.3273+8157_3273+8158insTTTTTTTTTTTTTTTTTTT		PCNX2	ENSG00000135749.20	transcript	ENST00000258229.14	protein_coding	17/33						chr1	TogoVar
PCOLCE_chr7_100597363_100613175	100607090	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03098.hp2 NA18906.hp2 HG02559.hp1 HG03098.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0029 a0001c0001t0001g0046 a0002c0002t0002g0045 a0001c0001t0001g0029 a0001c0001t0001g0046 a0002c0002t0002g0045	3	260	0.0115	19	c.941 others(34): Show c.941-346_941-345insAAAAAAAAAAAAAAAAAAA		PCOLCE	ENSG00000106333.13	transcript	ENST00000223061.6	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
PCSK1_chr5_96385333_96438248	96412752	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0125 a0001c0001t0014g0125	1	106	0.0094	19	c.710 others(34): Show c.710-281_710-263dupAAAAAAAAAAAAAAAAAAA		PCSK1	ENSG00000175426.11	transcript	ENST00000311106.8	protein_coding	6/13						chr5	TogoVar
PCSK2_chr20_17222040_17489578	17433812	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCCC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	221	0.0045	19	c.710 others(36): Show c.710-2895_710-2894insTCTCTCTCTCTCTCTCCCC		PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK2_chr20_17222040_17489578	17450017	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0154 a0001c0001t0026g0154	1	36	0.0278	19	c.886 others(36): Show c.886-3713_886-3695dupTTTTTTTTTTTTTTTTTTT		PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK5_chr9_75885673_76367975	76173496	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0095 a0001c0095	a0001c0095t0002 a0001c0095t0002	a0001c0095t0002g0102 a0001c0095t0002g0102	1	12	0.0833	19	c.175 others(38): Show c.1757-1472_1757-1454dupTTTTTTTTTTTTTTTTTTT		PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	13/37					INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101316910	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19240.hp1 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0005 a0001c0010t0005 a0001c0003t0005 a0001c0010t0005	a0001c0003t0005g0068 a0001c0010t0005g0253 a0001c0003t0005g0068 a0001c0010t0005g0253	2	148	0.0135	19	c.256 others(38): Show c.2569+1390_2569+1408dupAAAAAAAAAAAAAAAAAAA		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	19/21						chr15	TogoVar
PCSK6_chr15_101298933_101494707	101342129	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0285 a0001c0001t0005g0285	1	74	0.0135	19	c.185 others(40): Show c.1859-10117_1859-10099dupTTTTTTTTTTTTTTTTTTT		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	13/21						chr15	TogoVar
PCSK6_chr15_101298933_101494707	101392593	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01884.hp1 HG01884.hp2 others(6): Show HG01516.hp2 HG01884.hp1 HG01884.hp2 HG02486.hp1 HG02559.hp2 HG02647.hp2 HG02922.hp2 HG03486.hp1 NA19011.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0003 a0001c0010 others(3): Show a0001c0002 a0001c0003 a0001c0010 a0001c0019 a0002c0017 a0005c0060	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(6): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0010t0001 a0001c0010t0003 a0001c0019t0003 a0002c0017t0001 a0005c0060t0001	a0001c0002t0001g0179 a0001c0002t0003g0294 a0001c0003t0001g0112 others(6): Show a0001c0002t0001g0179 a0001c0002t0003g0294 a0001c0003t0001g0112 a0001c0003t0002g0040 a0001c0010t0001g0297 a0001c0010t0003g0292 a0001c0019t0003g0304 a0002c0017t0001g0031 a0005c0060t0001g0303	9	82	0.1098	19	c.120 others(36): Show c.1209+618_1209+619insAAAAAAAAAAAAAAAAAAA		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	8/21						chr15	TogoVar
PCSK6_chr15_101298933_101494707	101489563	G G	GGCGCCCC others(12): Show GGCGCCCCCCGCGCCCCCCC	frameshift_variant frameshift_variant	HIGH	NA18967.hp2 NA18967.hp2	a0016 a0016	a0016c0066 a0016c0066	a0016c0066t0002 a0016c0066t0002	a0016c0066t0002g0323 a0016c0066t0002g0323	1	287	0.0035	19	c.107 others(26): Show c.107_108insGGGGGGGCGCGGGGGGCGC	p.Pro others(4): Show p.Pro39fs	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	1/22	144/4272	107/2910	36/969			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101489575	G G	GCCCCCCG others(12): Show GCCCCCCGCGCCCCCCGCGC	frameshift_variant frameshift_variant	HIGH	HG02148.hp2 HG02148.hp2	a0012 a0012	a0012c0072 a0012c0072	a0012c0072t0001 a0012c0072t0001	a0012c0072t0001g0335 a0012c0072t0001g0335	1	322	0.0031	19	c.77_ others(24): Show c.77_95dupGCGCGGGGGGCGCGGGGGG	p.Ala others(4): Show p.Ala33fs	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	1/22	132/4272	95/2910	32/969			chr15	TogoVar
PCYOX1_chr2_70253137_70286185	70283096	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	246	0.0041	19	c.57 others(30): Show c.5704_*5705insAAAAAAAAAAAAAAAAAAA		PCYOX1	ENSG00000116005.12	transcript	ENST00000433351.7	protein_coding					1912		chr2	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01496.hp2 HG03017.hp1 others(1): Show HG00099.hp1 HG01496.hp2 HG03017.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0050 a0001c0001t0001 a0001c0001t0031 a0001c0001t0050	a0001c0001t0001g0128 a0001c0001t0031g0127 a0001c0001t0031g0129 others(1): Show a0001c0001t0001g0128 a0001c0001t0031g0127 a0001c0001t0031g0129 a0001c0001t0050g0126	4	122	0.0328	19	c.117 others(36): Show c.117+9497_117+9498insATATATATATATATATATT		PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7						chrX	TogoVar
PC_chr11_66843420_66963383	66903773	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03942.hp1 HG02602.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0116 a0001c0001t0001g0117	2	113	0.0177	19	c.1-3 others(34): Show c.1-31615_1-31614insATATATATATATTTTTTTT		PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding	3/22						chr11	TogoVar
PC_chr11_66843420_66963383	66903773	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	112	0.0089	19	c.1-3 others(34): Show c.1-31615_1-31614insATATATATATATATATTTT		PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding	3/22						chr11	TogoVar
PDCD6_chr5_266646_319974	310792	T T	TTTGTATA others(12): Show TTTGTATAACTGGATGTCAC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	358	0.0028	19	c.368 others(34): Show c.368-488_368-487insTGTCACTTGTATAACTGGA		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	318164	C C	CCCCCTTC others(12): Show CCCCCTTCACCCTCCACCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	358	0.0028	19	c.36 others(30): Show c.3649_*3650insCCCCTTCACCCTCCACCTA		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding					3191		chr5	TogoVar
PDCL2_chr4_55551519_55597245	55571686	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	84	0.0119	19	c.219 others(36): Show c.219-1826_219-1825insTTTTTTTTTTTTTTTTTTT		PDCL2	ENSG00000163440.12	transcript	ENST00000295645.9	protein_coding	3/5						chr4	TogoVar
PDC_chr1_186438566_186466114	186455797	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp2 HG03490.hp1 others(2): Show HG02135.hp1 HG02135.hp2 HG03490.hp1 HG03710.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0124 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0124	5	205	0.0244	19	c.-25 others(36): Show c.-25+5243_-25+5261dupTTTTTTTTTTTTTTTTTTT		PDC	ENSG00000116703.14	transcript	ENST00000391997.3	protein_coding	1/3						chr1	TogoVar
PDC_chr1_186438566_186466114	186459781	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	399	0.0025	19	c.-25 others(36): Show c.-25+1277_-25+1278insTATATATATATATATATAT		PDC	ENSG00000116703.14	transcript	ENST00000391997.3	protein_coding	1/3						chr1	TogoVar
PDE10A_chr6_165322289_165668241	165495989	G G	GCAGACCA others(12): Show GCAGACCAGGATAAGGGGAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	220	0.0045	19	c.995 others(38): Show c.995-13665_995-13647dupTTCCCCTTATCCTGGTCTG		PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	2/21						chr6	TogoVar
PDE10A_chr6_165322289_165668241	165542612	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA18948.hp1 NA19074.hp1 HG01257.hp1 NA18948.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0033 a0001c0001 a0001c0033	a0001c0001t0001 a0001c0001t0002 a0001c0033t0003 a0001c0001t0001 a0001c0001t0002 a0001c0033t0003	a0001c0001t0001g0182 a0001c0001t0002g0164 a0001c0033t0003g0216 a0001c0001t0001g0182 a0001c0001t0002g0164 a0001c0033t0003g0216	3	102	0.0294	19	c.994 others(34): Show c.994+809_994+827dupAAAAAAAAAAAAAAAAAAA		PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	2/21						chr6	TogoVar
PDE11A_chr2_177618244_178077777	177737449	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp2 HG02698.hp1 HG02698.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0019 a0001c0001 a0010c0019	a0001c0001t0007 a0010c0019t0001 a0001c0001t0007 a0010c0019t0001	a0001c0001t0007g0052 a0010c0019t0001g0113 a0001c0001t0007g0052 a0010c0019t0001g0113	2	165	0.0121	19	c.178 others(38): Show c.1789-9278_1789-9277insGTGTGTGTGTGTGTGTGTG		PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	10/19						chr2	TogoVar
PDE11A_chr2_177618244_178077777	177957910	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp1 HG01099.hp2 others(24): Show HG00639.hp1 HG00673.hp1 HG01099.hp2 HG01243.hp2 HG02040.hp1 HG02109.hp1 HG02129.hp1 HG02280.hp1 HG02486.hp1 HG02602.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03831.hp2 HG03942.hp2 NA18906.hp1 NA18942.hp1 NA19010.hp2 NA19043.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0009	a0001c0001 a0001c0003 a0001c0005 others(9): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0010 a0001c0024 a0002c0002 a0002c0004 a0002c0020 a0004c0012 a0007c0025 a0009c0018	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(22): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0025 a0001c0001t0060 a0001c0001t0067 a0001c0003t0014 a0001c0003t0024 a0001c0003t0059 a0001c0005t0047 a0001c0005t0064 a0001c0009t0016 a0001c0010t0002 a0001c0010t0005 a0001c0024t0017 a0002c0002t0001 a0002c0002t0004 a0002c0002t0034 a0002c0004t0001 a0002c0004t0004 a0002c0004t0028 a0002c0020t0001 a0004c0012t0009 a0007c0025t0048 a0009c0018t0001	a0001c0001t0002g0079 a0001c0001t0005g0152 a0001c0001t0008g0084 others(24): Show a0001c0001t0002g0079 a0001c0001t0005g0152 a0001c0001t0008g0084 a0001c0001t0025g0103 a0001c0001t0060g0080 a0001c0001t0067g0024 a0001c0003t0014g0151 a0001c0003t0024g0110 a0001c0003t0059g0023 a0001c0005t0047g0018 a0001c0005t0064g0016 a0001c0009t0016g0011 a0001c0010t0002g0022 a0001c0010t0005g0035 a0001c0024t0017g0044 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0094 a0002c0002t0004g0077 a0002c0002t0034g0046 a0002c0004t0001g0109 a0002c0004t0004g0111 a0002c0004t0028g0106 a0002c0020t0001g0108 a0004c0012t0009g0088 a0007c0025t0048g0097 a0009c0018t0001g0112	27	62	0.4355	19	c.107 others(40): Show c.1072-52724_1072-52723insAAAAAAAAAAAAAAAAAAA		PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19						chr2	TogoVar
PDE12_chr3_57551274_57571848	57554286	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0003 a0001c0001t0059g0003	1	385	0.0026	19	c.-20 others(30): Show c.-2094_-2093insAAAAAAAAAAAAAAAAAAA		PDE12	ENSG00000174840.9	transcript	ENST00000311180.9	protein_coding					1987		chr3	TogoVar
PDE1C_chr7_31746179_32075407	31875835	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0089 a0001c0004t0013g0089	1	260	0.0038	19	c.492 others(36): Show c.492+2134_492+2135insATATATATATATATATATA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	5/17						chr7	TogoVar
PDE1C_chr7_31746179_32075407	31895580	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0052 a0001c0002t0005g0052	1	63	0.0159	19	c.129 others(38): Show c.129-14721_129-14720insGAGAGAGAGAGAGAGAGAG		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17						chr7	TogoVar
PDE1C_chr7_31746179_32075407	31932765	C C	CTCCATTT others(12): Show CTCCATTTTGCGCCTGCATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	260	0.0038	19	c.129 others(38): Show c.129-51906_129-51905insTATGCAGGCGCAAAATGGA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17						chr7	TogoVar
PDE3B_chr11_14638804_14877044	14728209	T T	TTGGATAA others(12): Show TTGGATAAACCCACTGTGGC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	330	0.0030	19	c.979 others(38): Show c.979-43725_979-43724insATAAACCCACTGTGGCTGG		PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
PDE4B_chr1_65787895_66379574	65887247	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	55	0.0182	19	c.-70 others(38): Show c.-70-25996_-70-25995insCTTTCTTTCTTTCTTTCTT		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(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	15	0.0667	19	c.-70 others(38): Show c.-70-25825_-70-25807dupTTTTTTTTTTTTTTTTTTT		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(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01255.hp1 others(10): Show HG00738.hp1 HG00738.hp2 HG01255.hp1 HG02132.hp2 HG02148.hp2 HG02257.hp2 HG03041.hp1 HG03130.hp2 HG03540.hp1 HG03579.hp2 NA18906.hp1 NA18944.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0028 a0001c0001t0001g0086 a0001c0001t0002g0029 others(10): Show a0001c0001t0001g0028 a0001c0001t0001g0086 a0001c0001t0002g0029 a0001c0001t0003g0110 a0001c0001t0004g0036 a0001c0001t0005g0032 a0001c0001t0006g0033 a0001c0001t0008g0070 a0001c0001t0011g0002 a0001c0002t0001g0051 a0001c0002t0001g0062 a0001c0002t0001g0068 a0001c0002t0001g0098	13	19	0.6842	19	c.281 others(36): Show c.281+5257_281+5258insTTTTTTTTTTTTTTTTTTT		PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4B_chr1_65787895_66379574	66090616	A A	ATGTGTGT others(12): Show ATGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03209.hp1 HG03471.hp2 others(1): Show HG03098.hp1 HG03209.hp1 HG03471.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0087 a0001c0001t0002g0088 a0001c0001t0008g0057 others(1): Show a0001c0001t0001g0087 a0001c0001t0002g0088 a0001c0001t0008g0057 a0001c0002t0001g0010	4	40	0.1000	19	c.282 others(40): Show c.282-156844_282-156843insTGTGTGTGTGTGTGTGTGT		PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16						chr1	TogoVar
PDE4D_chr5_58964038_59898726	59413457	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0028 a0001c0002t0014g0028	1	27	0.0370	19	c.456 others(40): Show c.456-197508_456-197490dupTTTTTTTTTTTTTTTTTTT		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59649904	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18966.hp2 HG03225.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0052 a0001c0001t0005g0008 a0001c0001t0001g0052 a0001c0001t0005g0008	2	28	0.0714	19	c.455 others(40): Show c.455+243263_455+243264insAAAAAAAAAAAAAAAAAAA		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59649905	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02717.hp2 HG01884.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0015 a0001c0001t0015g0066 a0001c0001t0001g0015 a0001c0001t0015g0066	2	23	0.0870	19	c.455 others(40): Show c.455+243244_455+243262dupAAAAAAAAAAAAAAAAAAA		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59732899	T T	TTAAGTGA others(12): Show TTAAGTGACTTTCACATGGA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01257.hp2 HG01361.hp2 others(19): Show HG01071.hp2 HG01257.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01952.hp1 HG02258.hp1 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03225.hp1 HG03239.hp2 HG03540.hp1 NA18983.hp1 NA19043.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0019 a0001c0002t0014 a0002c0003t0007	a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0020 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0029 a0001c0001t0003g0044 a0001c0001t0003g0072 a0001c0001t0004g0027 a0001c0001t0004g0031 a0001c0001t0004g0073 a0001c0001t0006g0067 a0001c0001t0006g0069 a0001c0001t0008g0046 a0001c0001t0010g0068 a0001c0001t0017g0002 a0001c0001t0019g0059 a0001c0002t0014g0028 a0002c0003t0007g0004	22	74	0.2973	19	c.455 others(40): Show c.455+160250_455+160268dupTCCATGTGAAAGTCACTTA		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149889081	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	198	0.0051	19	c.172 others(38): Show c.1729-2708_1729-2707insTTTTTTTTTTTTTTTTTTT		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	13/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149906519	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01496.hp2 others(12): Show HG00738.hp2 HG01069.hp1 HG01496.hp2 HG02109.hp1 HG02451.hp2 HG02622.hp1 HG02723.hp2 HG02922.hp2 HG03239.hp1 HG03492.hp1 HG03710.hp2 NA18944.hp2 NA18947.hp2 NA18973.hp1 NA18977.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0010 a0001c0001t0060 others(8): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0060 a0001c0001t0068 a0001c0002t0001 a0001c0002t0002 a0001c0005t0002 a0001c0005t0005 a0001c0005t0066 a0002c0003t0020 a0002c0003t0037	a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0010g0080 others(12): Show a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0010g0080 a0001c0001t0060g0126 a0001c0001t0068g0128 a0001c0002t0001g0263 a0001c0002t0001g0266 a0001c0002t0001g0308 a0001c0002t0002g0307 a0001c0005t0002g0323 a0001c0005t0005g0324 a0001c0005t0066g0321 a0002c0003t0020g0214 a0002c0003t0020g0219 a0002c0003t0037g0213	15	77	0.1948	19	c.106 others(36): Show c.1065+774_1065+792dupTTTTTTTTTTTTTTTTTTT		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	7/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149920943	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0013 a0003c0007t0013	a0003c0007t0013g0315 a0003c0007t0013g0315	1	326	0.0031	19	c.933 others(34): Show c.933+673_933+691dupCTTTCTTTCTTTCTTTCTT		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	5/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01891.hp1 others(2): Show HG01069.hp1 HG01069.hp2 HG01891.hp1 NA18959.hp2 NA19087.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0022 a0001c0001 a0007c0022	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0060 a0007c0022t0002	a0001c0001t0001g0125 a0001c0001t0004g0182 a0001c0001t0010g0116 others(2): Show a0001c0001t0001g0125 a0001c0001t0004g0182 a0001c0001t0010g0116 a0001c0001t0060g0126 a0007c0022t0002g0189	5	73	0.0685	19	c.858 others(36): Show c.858+2796_858+2797insAAAAAAAAATATATATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA20752.hp1 HG03669.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0180 a0001c0001t0003g0130 a0001c0001t0003g0180	2	70	0.0286	19	c.858 others(36): Show c.858+2796_858+2797insAAAAAAAAAAATATATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18979.hp2 NA18980.hp1 others(3): Show HG01081.hp1 NA18979.hp2 NA18980.hp1 NA19030.hp2 NA19060.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0059	a0001c0001t0001g0168 a0001c0001t0002g0184 a0001c0001t0006g0169 others(3): Show a0001c0001t0001g0168 a0001c0001t0002g0184 a0001c0001t0006g0169 a0001c0001t0012g0122 a0001c0001t0015g0210 a0001c0001t0059g0175	6	74	0.0811	19	c.858 others(36): Show c.858+2796_858+2797insAAAAAAAAAAAAATATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp1 HG01243.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0009 a0001c0004t0005 a0001c0001t0009 a0001c0004t0005	a0001c0001t0009g0177 a0001c0004t0005g0178 a0001c0001t0009g0177 a0001c0004t0005g0178	2	70	0.0286	19	c.858 others(36): Show c.858+2796_858+2797insAAAAAAAAAAAAAAATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE6B_chr4_620573_675782	642725	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02970.hp2 HG03225.hp1 others(1): Show HG02647.hp1 HG02970.hp2 HG03225.hp1 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0257 a0002c0003t0005g0258 a0002c0003t0005g0260 others(1): Show a0002c0003t0005g0257 a0002c0003t0005g0258 a0002c0003t0005g0260 a0002c0003t0005g0262	4	179	0.0223	19	c.711 others(36): Show c.711+6763_711+6781dupAAAAAAAAAAAAAAAAAAA		PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	668430	G G	GCTACCCC others(12): Show GCTACCCCATGCTGCTCCCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02922.hp2 HG02976.hp2 others(1): Show HG01167.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0012t0003 a0001c0001t0003 a0001c0012t0003	a0001c0001t0003g0006 a0001c0012t0003g0031 a0001c0012t0003g0032 a0001c0001t0003g0006 a0001c0012t0003g0031 a0001c0012t0003g0032	4	303	0.0132	19	c.250 others(36): Show c.2503+475_2503+493dupGCTCCCACTACCCCATGCT		PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	668580	A A	ACTACCCC others(12): Show ACTACCCCATGCTATTCCCG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	303	0.0033	19	c.250 others(36): Show c.2503+593_2503+611dupGCTACCCCATGCTATTCCC		PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	669534	C C	CCCATGCT others(12): Show CCCATGCTATTCCCGCTACG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	298	0.0034	19	c.250 others(36): Show c.2504-498_2504-480dupGCTACGCCATGCTATTCCC		PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21					INFO_REALIGN_3_PRIME	chr4	TogoVar

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