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
PCDHGA1_chr5_141325514_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	266	0.0038	-23	c.242 others(44): Show c.2422-77301_2422-77279delAATATTTTGGCTGTCAACTCGTA	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0218 a0002c0002t0002g0218	1	270	0.0037	-23	c.242 others(44): Show c.2424+76111_2424+76133delAATATTTTGGCTGTCAACTCGTA	PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0208 a0002c0002t0002g0208	1	268	0.0037	-23	c.242 others(44): Show c.2424+71049_2424+71071delAATATTTTGGCTGTCAACTCGTA	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA4_chr5_141350021_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	272	0.0037	-23	c.251 others(44): Show c.2514+59885_2514+59907delAATATTTTGGCTGTCAACTCGTA	PCDHGA4	ENSG00000262576.3	transcript	ENST00000571252.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA5_chr5_141359162_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	290	0.0034	-23	c.242 others(44): Show c.2421+50755_2421+50777delAATATTTTGGCTGTCAACTCGTA	PCDHGA5	ENSG00000253485.3	transcript	ENST00000518069.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA6_chr5_141368891_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	290	0.0034	-23	c.242 others(44): Show c.2424+40999_2424+41021delAATATTTTGGCTGTCAACTCGTA	PCDHGA6	ENSG00000253731.3	transcript	ENST00000517434.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA7_chr5_141377742_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	290	0.0034	-23	c.242 others(44): Show c.2424+32183_2424+32205delAATATTTTGGCTGTCAACTCGTA	PCDHGA7	ENSG00000253537.3	transcript	ENST00000518325.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA8_chr5_141387633_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0229 a0002c0002t0002g0229	1	300	0.0033	-23	c.242 others(44): Show c.2424+22269_2424+22291delAATATTTTGGCTGTCAACTCGTA	PCDHGA8	ENSG00000253767.3	transcript	ENST00000398604.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA9_chr5_141397778_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0063 a0001c0002t0002g0063	1	300	0.0033	-23	c.242 others(44): Show c.2424+12130_2424+12152delAATATTTTGGCTGTCAACTCGTA	PCDHGA9	ENSG00000261934.3	transcript	ENST00000573521.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	276	0.0036	-23	c.240 others(44): Show c.2409+64837_2409+64859delAATATTTTGGCTGTCAACTCGTA	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB2_chr5_141354994_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	286	0.0035	-23	c.242 others(44): Show c.2421+54950_2421+54972delAATATTTTGGCTGTCAACTCGTA	PCDHGB2	ENSG00000253910.3	transcript	ENST00000522605.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB3_chr5_141365242_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0041 a0001c0010t0002g0041	1	294	0.0034	-23	c.241 others(44): Show c.2415+44697_2415+44719delAATATTTTGGCTGTCAACTCGTA	PCDHGB3	ENSG00000262209.3	transcript	ENST00000576222.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	292	0.0034	-23	c.239 others(44): Show c.2397+27225_2397+27247delAATATTTTGGCTGTCAACTCGTA	PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB5_chr5_141392947_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0250 a0001c0001t0003g0250	1	298	0.0034	-23	c.239 others(44): Show c.2397+16982_2397+17004delAATATTTTGGCTGTCAACTCGTA	PCDHGB5	ENSG00000276547.2	transcript	ENST00000617380.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB6_chr5_141403021_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	300	0.0033	-23	c.241 others(42): Show c.2418+6886_2418+6908delAATATTTTGGCTGTCAACTCGTA	PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB7_chr5_141412677_141517975	141417504	AAAATATT others(16): Show AAAATATTTTGGCTGTCAACTCGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0264 a0002c0003t0004g0264	1	304	0.0033	-23	c.-35 others(32): Show c.-355_-333delAAATATTTTGGCTGTCAACTCGT	PCDHGB7	ENSG00000254122.3	transcript	ENST00000398594.4	protein_coding		172		chr5	TogoVar
PCGF3_chr4_700832_775089	706454	CCAGGGAG others(16): Show CCAGGGAGGGCAAAGACCCCAGAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 NA18906.hp1 others(1): Show HG02258.hp1 HG02451.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0357 others(1): Show a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0004g0358	4	342	0.0117	-23	c.-19 others(40): Show c.-190+495_-190+517delAAAGACCCCAGAACAGGGAGGGC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF5_chr10_91215663_91289337	91282063	AGACTTTG others(16): Show AGACTTTGGTAAAAGTGCCAACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0016 a0001c0001t0035g0016	1	316	0.0032	-23	c.37 others(34): Show c.3748_*3770delGACTTTGGTAAAAGTGCCAACAC	PCGF5	ENSG00000180628.15	transcript	ENST00000336126.6	protein_coding	10/10	3748		chr10	TogoVar
PCID2_chr13_113172536_113213669	113208233	ACAGCACC others(16): Show ACAGCACCGCCCACAGCGGGCCCT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02886.hp2 others(5): Show HG01884.hp2 HG02280.hp1 HG02886.hp2 HG03195.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0178 a0001c0002t0004g0025 a0001c0002t0004g0054 others(3): Show a0001c0001t0003g0178 a0001c0002t0004g0025 a0001c0002t0004g0054 a0001c0002t0004g0175 a0001c0002t0004g0176 a0001c0002t0004g0177	8	412	0.0194	-23	c.36+ others(36): Show c.36+343_36+365delAGGGCCCGCTGTGGGCGGTGCTG	PCID2	ENSG00000126226.22	transcript	ENST00000337344.9	protein_coding	1/13			chr13	TogoVar
PCNT_chr21_46319156_46450769	46380145	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01106.hp1 HG01192.hp1 others(1): Show HG01069.hp1 HG01106.hp1 HG01192.hp1 NA20805.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0004 a0013c0014t0004	a0013c0014t0004g0328 a0013c0014t0004g0329 a0013c0014t0004g0330 others(1): Show a0013c0014t0004g0328 a0013c0014t0004g0329 a0013c0014t0004g0330 a0013c0014t0004g0331	4	32	0.1250	-23	c.316 others(42): Show c.3166-1533_3166-1511delTTTTTTTTTTTTTTTTTTTTTTT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	15/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK1N_chrX_48826096_48840610	48834777	AATCACAC others(16): Show AATCACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0025 a0001c0007t0001g0025	1	312	0.0032	-23	c.114 others(38): Show c.114+619_114+641delGTGTGTGTGTGTGTGTGTGTGAT	PCSK1N	ENSG00000102109.9	transcript	ENST00000218230.6	protein_coding	1/2			chrX	TogoVar
PCSK4_chr19_1476428_1495350	1493780	GAAGGCAC others(16): Show GAAGGCACTTAATAAATGTGCAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	398	0.0025	-23	c.-34 others(34): Show c.-3457_-3435delTCTGCACATTTATTAAGTGCCTT	PCSK4	ENSG00000115257.15	transcript	ENST00000300954.10	protein_coding		3431		chr19	TogoVar
PCSK5_chr9_75885673_76367975	75994396	CTTTCTTT others(16): Show CTTTCTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp1 HG03471.hp2 HG02922.hp1 HG02965.hp1 HG03471.hp2	a0001 a0010 a0043 a0001 a0010 a0043	a0001c0049 a0010c0043 a0043c0052 a0001c0049 a0010c0043 a0043c0052	a0001c0049t0013 a0010c0043t0024 a0043c0052t0049 a0001c0049t0013 a0010c0043t0024 a0043c0052t0049	a0001c0049t0013g0120 a0010c0043t0024g0136 a0043c0052t0049g0129 a0001c0049t0013g0120 a0010c0043t0024g0136 a0043c0052t0049g0129	3	80	0.0375	-23	c.411 others(40): Show c.411+8155_411+8177delCTTTTTTTTTTTTTTTTTTTTTT	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDCD6_chr5_266646_319974	317814	AACCCTGC others(16): Show AACCCTGCACCTCCCCCAACAGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	357	0.0028	-23	c.33 others(34): Show c.3300_*3322delACCCTGCACCTCCCCCAACAGCC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		2841		chr5	TogoVar
PDCD6_chr5_266646_319974	318859	CTGGAGGC others(16): Show CTGGAGGCCCATGAAGAGCAGCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	358	0.0028	-23	c.43 others(34): Show c.4345_*4367delTGGAGGCCCATGAAGAGCAGCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3886		chr5	TogoVar
PDE11A_chr2_177618244_178077777	178066958	CAGATTAT others(16): Show CAGATTATGTAGCTGGCCCTACTT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0009 a0004c0021t0009	a0004c0021t0009g0105 a0004c0021t0009g0105	1	168	0.0060	-23	c.912 others(40): Show c.912+4545_912+4567delAAGTAGGGCCAGCTACATAATCT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	1/19			chr2	TogoVar
PDE1C_chr7_31746179_32075407	31786934	TATCTATC others(16): Show TATCTATCTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0239 a0001c0003t0004g0239	1	260	0.0038	-23	c.189 others(44): Show c.1892-11225_1892-11203delGATAGATAGATAGATAGATAGAT	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	16/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31876447	CATAGAAA others(16): Show CATAGAAAAGAGGCTTCAATTTGG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	260	0.0038	-23	c.492 others(40): Show c.492+1500_492+1522delCCAAATTGAAGCCTCTTTTCTAT	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	5/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31900973	TTTAAACA others(16): Show TTTAAACAATTACATAGTAAACCA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG03486.hp1 others(2): Show HG01167.hp2 HG01169.hp1 HG03486.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0007 a0001c0005t0003 a0001c0005t0007	a0001c0005t0003g0019 a0001c0005t0003g0020 a0001c0005t0007g0001 others(2): Show a0001c0005t0003g0019 a0001c0005t0003g0020 a0001c0005t0007g0001 a0001c0005t0007g0003 a0001c0005t0007g0004	5	260	0.0192	-23	c.129 others(42): Show c.129-20136_129-20114delTGGTTTACTATGTAATTGTTTAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	32027607	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	13	0.0769	-23	c.128 others(42): Show c.128+23924_128+23946delTTTTTTTTTTTTTTTTTTTTTTT	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	32043169	AAAAGCAT others(16): Show AAAAGCATCAATAGTGCCATGGTT	A A	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	260	0.0038	-23	c.128 others(40): Show c.128+8362_128+8384delAACCATGGCACTATTGATGCTTT	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	32066725	AACAAAAA others(16): Show AACAAAAAAGTAATTCAGAGGGAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01255.hp1 others(12): Show HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01884.hp1 HG02559.hp1 HG02647.hp2 HG02723.hp2 HG02896.hp2 HG02965.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0009 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0002t0006 a0001c0005t0003 a0001c0006t0003 a0001c0009t0003 a0001c0009t0015 a0001c0018t0002	a0001c0001t0001g0013 a0001c0001t0002g0011 a0001c0001t0002g0015 others(12): Show a0001c0001t0001g0013 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0261 a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0002t0003g0127 a0001c0002t0006g0017 a0001c0005t0003g0019 a0001c0005t0003g0020 a0001c0006t0003g0010 a0001c0009t0003g0007 a0001c0009t0015g0008 a0001c0018t0002g0009	15	260	0.0577	-23	c.101 others(40): Show c.101+3545_101+3567delGTCCCTCTGAATTACTTTTTTGT	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	1/17			chr7	TogoVar
PDE3A_chr12_20363537_20693583	20370389	GTTTTTTT others(16): Show GTTTTTTTTTTGTTTTTTTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01257.hp2 others(1): Show HG00099.hp1 HG00099.hp2 HG01257.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0035 others(1): Show a0001c0001t0005 a0001c0001t0021 a0001c0001t0035 a0001c0001t0037	a0001c0001t0005g0017 a0001c0001t0021g0018 a0001c0001t0035g0016 others(1): Show a0001c0001t0005g0017 a0001c0001t0021g0018 a0001c0001t0035g0016 a0001c0001t0037g0019	4	188	0.0213	-23	c.960 others(38): Show c.960+164_960+186delTGTTTTTTTTTTTTTGTTTTTTT	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20400379	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0170 a0001c0001t0082g0170	1	13	0.0769	-23	c.960 others(42): Show c.960+30158_960+30180delTTTTTTTTTTTTTTTTTTTTTTT	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20467933	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	4	0.2500	-23	c.961 others(42): Show c.961-88702_961-88680delAAAAAAAAAAAAAAAAAAAAAAA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE6C_chr10_93607537_93671010	93622642	TTTTTTTT others(16): Show TTTTTTTTGTTTTTTTTTTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02922.hp1 others(3): Show HG02615.hp2 HG02630.hp2 HG02922.hp1 HG02970.hp1 HG03225.hp2 HG03453.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0004c0013 a0002c0004 a0004c0013	a0002c0004t0001 a0004c0013t0001 a0002c0004t0001 a0004c0013t0001	a0002c0004t0001g0008 a0002c0004t0001g0361 a0002c0004t0001g0362 others(2): Show a0002c0004t0001g0008 a0002c0004t0001g0361 a0002c0004t0001g0362 a0002c0004t0001g0364 a0004c0013t0001g0088	6	382	0.0157	-23	c.864 others(38): Show c.864+578_864+600delGTTTTTTTTTTTGTTGTTTTTTT	PDE6C	ENSG00000095464.10	transcript	ENST00000371447.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDE8A_chr15_84976856_85144142	84982131	CCCGCCAG others(16): Show CCCGCCAGCGTGTCCGCGGCGCCG	C C	start_retained_variant start_retained_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0018 a0001c0001t0008g0018	1	342	0.0029	-23	c.-23 others(29): Show c.-23_-1delGTGTCCGCGGCGCCGCCGCCAGC	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDGFA_chr7_492258_524846	495093	CTGGGGCC others(16): Show CTGGGGCCCAGCCCACCCCTGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	300	0.0033	-23	c.34 others(34): Show c.3448_*3470delCCCCAGGGGTGGGCTGGGCCCCA	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding		2164		chr7	TogoVar
PDGFA_chr7_492258_524846	497951	AAAAAAAA others(16): Show AAAAAAAACAAAAAAAAAAAAAAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0023 a0001c0002t0050g0023	1	299	0.0033	-23	c.59 others(32): Show c.590_*612delGTTTTTTTTTTTTTTGTTTTTTT	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	6/6	590		chr7	TogoVar
PDGFA_chr7_492258_524846	504294	GGAGAGGC others(16): Show GGAGAGGCCCGGCCCGAGGATGAA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0273 a0001c0001t0025g0273	1	300	0.0033	-23	c.454 others(40): Show c.454-3075_454-3053delTTCATCCTCGGGCCGGGCCTCTC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDGFC_chr4_156755454_156976799	156891279	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00741.hp1 HG01099.hp2 others(18): Show HG00621.hp1 HG00741.hp1 HG01099.hp2 HG02080.hp1 NA18612.hp2 NA18747.hp2 NA18954.hp1 NA18955.hp2 NA18967.hp1 NA18978.hp2 NA18985.hp2 NA18986.hp1 NA19054.hp2 NA19064.hp2 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 others(3): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0001t0023 a0001c0001t0034 a0001c0002t0033	a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0192 others(18): Show a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0007g0191 a0001c0001t0014g0053 a0001c0001t0014g0054 a0001c0001t0023g0013 a0001c0001t0034g0203 a0001c0002t0033g0186	21	29	0.7241	-23	c.119 others(42): Show c.119-40886_119-40864delTTTTTTTTTTTTTTTTTTTTTTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156891303	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0088 a0001c0002t0002g0088	1	206	0.0049	-23	c.119 others(42): Show c.119-40910_119-40888delCTTTTTTTTTTTTTTTTTTTTTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFRA_chr4_54224293_54303245	54271957	TCCCCTCC others(16): Show TCCCCTCCCCTCCCCCCTCCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0142 a0001c0008t0003g0142	1	296	0.0034	-23	c.123 others(40): Show c.1238-415_1238-393delTCCCCCTCCCCTCCCCCCTCCCC	PDGFRA	ENSG00000134853.12	transcript	ENST00000257290.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDIA2_chr16_278164_292215	285839	TCCCAACC others(16): Show TCCCAACCCGGCGGTTCTCCCAAC	T T	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	426	0.0023	-23	c.111 others(40): Show c.1119+165_1119+187delCCCGGCGGTTCTCCCAACCCCAA	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285891	ACCCGCGG others(16): Show ACCCGCGGTTCTCCCAACCCCAAC	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	-23	c.111 others(40): Show c.1119+215_1119+237delGCGGTTCTCCCAACCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA4_chr7_148998062_149033505	149017597	CATTTTAT others(16): Show CATTTTATCAAAATAAAATTAAAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01496.hp2 HG01433.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0001g0135 a0001c0001t0001g0147	2	350	0.0057	-23	c.475 others(40): Show c.475+1372_475+1394delATTTAATTTTATTTTGATAAAAT	PDIA4	ENSG00000155660.11	transcript	ENST00000652332.1	protein_coding	3/9			chr7	TogoVar
PDIA6_chr2_10778391_10817785	10786509	CTCTCCAC others(16): Show CTCTCCACACAGCACACACACACG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01070.hp2 others(48): Show HG00639.hp1 HG00639.hp2 HG01070.hp2 HG01123.hp1 HG01175.hp2 HG01261.hp1 HG01884.hp1 HG02055.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18972.hp1 NA18973.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp2 NA19043.hp1 NA19074.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0012 a0001c0013 a0002c0002 a0002c0009 a0005c0008	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(8): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0015 a0001c0012t0002 a0001c0013t0002 a0002c0002t0001 a0002c0009t0001 a0005c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0056 others(43): Show a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0078 a0001c0003t0001g0190 a0001c0003t0001g0216 a0001c0004t0001g0265 a0001c0004t0002g0023 a0001c0004t0002g0245 a0001c0004t0002g0247 a0001c0004t0002g0248 a0001c0004t0002g0249 a0001c0004t0002g0250 a0001c0004t0002g0251 a0001c0004t0002g0252 a0001c0004t0002g0254 a0001c0004t0002g0255 a0001c0004t0002g0256 a0001c0004t0002g0257 a0001c0004t0002g0258 a0001c0004t0002g0259 a0001c0004t0002g0260 a0001c0004t0002g0262 a0001c0004t0002g0263 a0001c0004t0002g0266 a0001c0004t0002g0267 a0001c0004t0002g0268 a0001c0004t0002g0269 a0001c0004t0002g0270 a0001c0004t0002g0271 a0001c0004t0002g0272 a0001c0004t0002g0273 a0001c0004t0002g0274 a0001c0004t0010g0246 a0001c0004t0010g0253 a0001c0004t0015g0282 a0001c0012t0002g0261 a0001c0013t0002g0264 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0009t0001g0179 a0005c0008t0001g0206	51	340	0.1500	-23	c.115 others(40): Show c.1157+749_1157+771delCGTGTGTGTGTGCTGTGTGGAGA	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	11/12			chr2	TogoVar
PDP2_chr16_66875515_66896101	66881694	TTTAAAGA others(16): Show TTTAAAGAGACAGATCTGGCTCTG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp2 HG02717.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0028 a0001c0001t0024 a0001c0001t0028	a0001c0001t0024g0015 a0001c0001t0028g0015 a0001c0001t0024g0015 a0001c0001t0028g0015	2	354	0.0056	-23	c.-55 others(40): Show c.-55+1056_-55+1078delTAAAGAGACAGATCTGGCTCTGT	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDP2_chr16_66875515_66896101	66893524	TATATATA others(16): Show TATATATATATATATATATATGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02896.hp1 HG02897.hp2 others(1): Show HG01891.hp1 HG02896.hp1 HG02897.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0026 a0001c0001t0016 a0001c0001t0026	a0001c0001t0016g0008 a0001c0001t0026g0008 a0001c0001t0016g0008 a0001c0001t0026g0008	4	352	0.0114	-23	c.76 others(34): Show c.7651_*7673delATATATATATATATATATATGTA	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding		2424		chr16	TogoVar
PDP2_chr16_66875515_66896101	66893526	TATATATA others(16): Show TATATATATATATATATATGTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02622.hp2 others(1): Show HG01884.hp1 HG02280.hp1 HG02622.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0022 a0001c0001t0045 a0001c0001t0016 a0001c0001t0022 a0001c0001t0045	a0001c0001t0016g0022 a0001c0001t0022g0008 a0001c0001t0045g0021 a0001c0001t0016g0022 a0001c0001t0022g0008 a0001c0001t0045g0021	4	347	0.0115	-23	c.76 others(34): Show c.7653_*7675delATATATATATATATATATGTATA	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding		2426		chr16	TogoVar

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