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
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0308 a0001c0002t0001g0308	1	69	0.0145	30	c.858 others(47): Show c.858+2796_858+2797insAAAAAAAAAAAATATATATATATATATA TA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6D_chr2_231727433_231786282	231729660	T T	TCCCCACC others(23): Show TCCCCACCAGTTCAAATCCCACCCACACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	264	0.0038	30	c.32 others(41): Show c.3291_*3292insGAGGTGTGGGTGGGATTTGAACTGGTGGGG	PDE6D	ENSG00000156973.14	transcript	ENST00000287600.9	protein_coding		2772		chr2	TogoVar
PDE6G_chr17_81645459_81661542	81660091	A A	AAGAAAAG others(23): Show AAGAAAAGAAAAAAAGAAAAGAAACAAAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	432	0.0023	30	c.-36 others(41): Show c.-3688_-3659dupCATTTTGTTTCTTTTCTTTTTTTCTTTTCT	PDE6G	ENSG00000185527.12	transcript	ENST00000331056.10	protein_coding		3550		chr17	TogoVar
PDE7A_chr8_65709334_65847064	65730171	C C	CTTCTTTT others(23): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0048	a0002c0002t0048g0055 a0002c0002t0048g0055	1	28	0.0357	30	c.697 others(47): Show c.697-2871_697-2870insAAAAAAAAAAAAAAAAAAAAAAAAAAAG AA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	7/12			chr8	TogoVar
PDE7B_chr6_135846701_136200574	135928489	A A	ATATATAT others(23): Show ATATATATATATTTATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	110	0.0091	30	c.22- others(47): Show c.22-18964_22-18935dupTTTATATATATATATTTATTTATATATA TA	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	135934766	T T	TATATATA others(23): Show TATATATATATTTATTATATATATATTTTAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01109.hp2 HG01255.hp2 others(19): Show HG00544.hp2 HG01109.hp2 HG01255.hp2 HG01884.hp1 HG01981.hp1 HG02155.hp1 HG02165.hp1 HG02451.hp2 HG02559.hp2 HG02698.hp2 HG02965.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04228.hp2 NA18944.hp1 NA18995.hp2 NA19001.hp1 NA19011.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0003t0006 a0001c0003t0026 a0003c0005t0014	a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0060 others(19): Show a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0002g0007 a0001c0001t0006g0116 a0001c0001t0007g0035 a0001c0001t0009g0128 a0001c0003t0006g0001 a0001c0003t0026g0075 a0003c0005t0014g0028	22	139	0.1583	30	c.22- others(47): Show c.22-12670_22-12641dupTAAATATATATATTTATTATATATATAT TT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA18978.hp1 HG03490.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0085 a0001c0001t0001g0091	2	66	0.0303	30	c.173 others(49): Show c.1735-1316_1735-1315insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE8B_chr5_77205680_77433256	77397026	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0237 a0001c0001t0006g0237	1	66	0.0152	30	c.116 others(49): Show c.1168-3198_1168-3197insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	81	0.0123	30	c.263 others(47): Show c.263-5145_263-5144insATATATATATATATATATATATTTTTTT TT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	81	0.0123	30	c.263 others(47): Show c.263-5145_263-5144insATATATATATATATTTTTTTTTTTTTTT TT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFA_chr7_492258_524846	501687	T T	TGCTGGAA others(23): Show TGCTGGAACTTCAAGTGAGAGCCGCCGCGCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0183 a0001c0001t0110g0183	1	300	0.0033	30	c.454 others(45): Show c.454-475_454-446dupGGCGCGGCGGCTCTCACTTGAAGTTCCAGC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDGFC_chr4_156755454_156976799	156825590	T T	TAAGAAGA others(23): Show TAAGAAGAAGAAGAAGAAGAAGGAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	126	0.0079	30	c.315 others(49): Show c.315-14574_315-14573insCTTCTTCTCCTTCTTCTTCTTCTTCT TCTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFD_chr11_103902189_104169147	103953169	G G	GATGTATA others(23): Show GATGTATATATACAAAATGTATACATACAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 NA18970.hp2 others(3): Show HG00544.hp1 HG00558.hp1 NA18970.hp2 NA18985.hp1 NA19084.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0024 a0001c0001t0002g0079 a0001c0001t0003g0007 others(3): Show a0001c0001t0002g0024 a0001c0001t0002g0079 a0001c0001t0003g0007 a0001c0001t0003g0169 a0001c0001t0003g0172 a0001c0002t0001g0050	6	198	0.0303	30	c.511 others(47): Show c.511-5475_511-5446dupTTTGTATGTATACATTTTGTATATATAC AT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104082133	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02735.hp1 others(7): Show HG02145.hp2 HG02257.hp2 HG02735.hp1 HG03471.hp2 HG03688.hp2 NA18965.hp2 NA18990.hp1 NA19030.hp2 NA19068.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005	a0001c0001t0002g0043 a0001c0001t0002g0155 a0001c0001t0002g0162 others(7): Show a0001c0001t0002g0043 a0001c0001t0002g0155 a0001c0001t0002g0162 a0001c0001t0003g0095 a0001c0001t0003g0120 a0001c0002t0001g0105 a0001c0002t0001g0184 a0001c0002t0004g0034 a0001c0002t0005g0108 a0001c0002t0005g0188	10	115	0.0870	30	c.124 others(49): Show c.124+81670_124+81671insATATATATATATATATATATATATAT ATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104082137	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19043.hp2 HG02109.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0110 a0001c0001t0019g0153 a0001c0001t0002g0110 a0001c0001t0019g0153	2	92	0.0217	30	c.124 others(49): Show c.124+81666_124+81667insATATATATATATATATATATATATAT ATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104119143	T T	TGATATAT others(23): Show TGATATATATTAATATAATATATTGGTATAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	70	0.0143	30	c.124 others(49): Show c.124+44660_124+44661insTTATACCAATATATTATATTAATATA TATC	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRL_chr8_17572216_17648144	17577082	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02155.hp2 HG02056.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0327 a0001c0002t0001g0329 a0001c0002t0001g0327 a0001c0002t0001g0329	2	12	0.1667	30	c.-17 others(39): Show c.-171_-170insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding		133		chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00733.hp2 others(8): Show HG00558.hp1 HG00621.hp2 HG00733.hp2 HG01943.hp1 HG01981.hp1 HG02027.hp1 HG02129.hp1 HG02970.hp2 NA18940.hp2 NA18947.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 others(8): Show a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0367 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0339 a0001c0002t0001g0368 a0002c0003t0001g0264	11	35	0.3143	30	c.353 others(45): Show c.353+491_353+492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	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(23): Show TCCCCGCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA20300.hp2 HG02074.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0234 a0001c0001t0001g0108 a0001c0001t0001g0234	2	41	0.0488	30	c.940 others(45): Show c.940-710_940-709insCCCCCCCCCCCCCCCCCCCCCCCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDIA2_chr16_278164_292215	285909	C C	CCCAACCC others(23): Show CCCAACCCCAACCCCAACCCCAACCCCAACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02976.hp2 HG01109.hp2 HG02976.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0027 a0006c0014t0002g0027	2	418	0.0048	30	c.111 others(47): Show c.1119+214_1119+215insAACCCCAACCCCAACCCCAACACCAACC CC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285966	T T	TCCCAACC others(23): Show TCCCAACCCCAACCCCAACCCCAACCCCAAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0083 a0003c0008t0001g0083	1	411	0.0024	30	c.111 others(47): Show c.1119+272_1119+273insAACCCCAACCCCAACCCCAACCCCAACC CC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA5_chr3_123062025_123167104	123072912	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02895.hp1 HG02735.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0303 a0001c0001t0001g0259 a0001c0001t0001g0303	2	90	0.0222	30	c.42+ others(45): Show c.42+5708_42+5737dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDIA5_chr3_123062025_123167104	123117372	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03516.hp2 HG02970.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0299 a0001c0001t0001g0300	2	328	0.0061	30	c.609 others(47): Show c.609+1075_609+1076insATATATATATATATATATATATATATAT AT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDIA5_chr3_123062025_123167104	123117374	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01123.hp1 HG03195.hp1 others(1): Show HG00639.hp2 HG01123.hp1 HG03195.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0092 a0001c0001t0001g0129 a0001c0003t0001g0258 others(1): Show a0001c0001t0001g0092 a0001c0001t0001g0129 a0001c0003t0001g0258 a0001c0004t0001g0074	4	14	0.2857	30	c.609 others(47): Show c.609+1101_609+1102insATATATATATATATATATATATATATAT AT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDIA5_chr3_123062025_123167104	123117374	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03209.hp2 HG01934.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0293 a0001c0001t0001g0294	2	12	0.1667	30	c.609 others(47): Show c.609+1077_609+1078insTTATATATATATATATATATATATATAT AT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDILT_chr16_20354175_20409737	20402290	A A	ATCTTTTC others(23): Show ATCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp2 HG01168.hp2 others(8): Show HG00099.hp1 HG00673.hp2 HG01168.hp2 HG01175.hp2 HG01981.hp1 HG02451.hp2 NA18942.hp1 NA18949.hp2 NA18981.hp2 NA19007.hp1 NA19072.hp1	a0002 a0003 a0002 a0003	a0002c0004 a0002c0022 a0003c0002 a0002c0004 a0002c0022 a0003c0002	a0002c0004t0001 a0002c0022t0001 a0003c0002t0001 a0002c0004t0001 a0002c0022t0001 a0003c0002t0001	a0002c0004t0001g0040 a0002c0004t0001g0148 a0002c0004t0001g0155 others(8): Show a0002c0004t0001g0040 a0002c0004t0001g0148 a0002c0004t0001g0155 a0002c0004t0001g0188 a0002c0004t0001g0189 a0002c0004t0001g0190 a0002c0004t0001g0271 a0002c0004t0001g0287 a0002c0004t0001g0332 a0002c0022t0001g0154 a0003c0002t0001g0249	11	37	0.2973	30	c.-8+ others(45): Show c.-8+2205_-8+2206insAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	1/11			chr16	TogoVar
PDLIM1_chr10_95232572_95296003	95256994	G G	GAAAGAAA others(23): Show GAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0109 a0001c0002t0002g0109	1	322	0.0031	30	c.533 others(47): Show c.533+6869_533+6870insTCTTTTCTTTTCTTTTCTTTTCTTTTCT TT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM7_chr5_177478394_177502604	177480968	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	407	0.0025	30	c.26 others(41): Show c.2675_*2676insAATATATATATATATATATATATATATATA	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding		2425		chr5	TogoVar
PDLIM7_chr5_177478394_177502604	177497008	G G	GGGGGAGG others(23): Show GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02004.hp1 NA18950.hp1 others(3): Show HG01346.hp1 HG02004.hp1 NA18950.hp1 NA18971.hp2 NA18998.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0002t0001g0004 others(3): Show a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0002t0001g0004 a0001c0002t0001g0009 a0001c0002t0001g0168 a0001c0002t0001g0181	6	210	0.0286	30	c.-11 others(45): Show c.-11-486_-11-485insTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	1/12			chr5	TogoVar
PDS5A_chr4_39817863_39982911	39817885	T T	TATATATA others(23): Show TATATATACATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	349	0.0029	30	c.75 others(41): Show c.7599_*7600insGTATATATATATATATATATATGTATATAT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding		4977		chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842909	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18973.hp1 NA19058.hp1 others(1): Show HG03453.hp2 NA18973.hp1 NA19058.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0062 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0062 a0001c0001t0014g0039	4	24	0.1667	30	c.354 others(47): Show c.3549-854_3549-853insTATATATATATATATATATATATATATA TA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39909040	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18961.hp2 NA18962.hp1 HG02300.hp1 NA18961.hp2 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0018 a0001c0002t0003 a0001c0002t0018	a0001c0002t0003g0117 a0001c0002t0003g0126 a0001c0002t0018g0147 a0001c0002t0003g0117 a0001c0002t0003g0126 a0001c0002t0018g0147	3	93	0.0323	30	c.108 others(47): Show c.1088-530_1088-501dupATTTTATTTTATTTTATTTTATTTTATT TT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	10/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655359	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02293.hp2 NA19070.hp1 HG02129.hp2 HG02293.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0018 a0001c0004t0003 a0001c0001t0003 a0001c0001t0018 a0001c0004t0003	a0001c0001t0003g0119 a0001c0001t0018g0115 a0001c0004t0003g0161 a0001c0001t0003g0119 a0001c0001t0018g0115 a0001c0004t0003g0161	3	286	0.0105	30	c.313 others(47): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT AT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02132.hp1 HG03516.hp1 HG01891.hp2 HG02132.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0133 a0001c0001t0004g0320 a0001c0001t0004g0322 a0001c0001t0003g0133 a0001c0001t0004g0320 a0001c0001t0004g0322	3	119	0.0252	30	c.313 others(47): Show c.313-2864_313-2863insATATATATATATATATATATATATATTT TT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	117	0.0085	30	c.313 others(47): Show c.313-2864_313-2863insATATATATATATATATTTTTTTTTTTTT TT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(23): Show ATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	117	0.0085	30	c.313 others(47): Show c.313-2864_313-2863insATATATATATATTTTTTTTTTTTTTTTT TT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATTTTT others(23): Show ATATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	117	0.0085	30	c.313 others(47): Show c.313-2864_313-2863insATTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32734011	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0309 a0001c0001t0034g0309	1	332	0.0030	30	c.224 others(49): Show c.2248-1158_2248-1157insCACACACACACACACACACACACACA AACA	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG01175.hp1 others(17): Show HG00140.hp1 HG00558.hp1 HG01175.hp1 HG01346.hp2 HG01433.hp2 HG01891.hp1 HG01975.hp1 HG01981.hp1 HG02602.hp2 HG03491.hp2 HG04199.hp1 NA18945.hp2 NA18946.hp2 NA18959.hp2 NA18970.hp1 NA18991.hp2 NA19002.hp2 NA19063.hp1 NA19085.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0015 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0081 a0001c0001t0001g0101 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0002g0130	20	145	0.1379	30	c.-46 others(41): Show c.-4633_-4632insTATATATATATATATATATATATATATATA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	60	0.0167	30	c.163 others(45): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107225153	A A	ATATATTT others(23): Show ATATATTTATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03471.hp2 HG02630.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0238 a0001c0001t0001g0106 a0001c0001t0001g0238	2	214	0.0093	30	c.703 others(49): Show c.703-12872_703-12871insAATATATATATATATATATATATAAA TATA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107402466	A A	ATATATAT others(23): Show ATATATATGTATATATGTATACGTATATACG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	100	0.0100	30	c.296 others(49): Show c.296+56523_296+56524insCGTATATACGTATACATATATACATA TATA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0254 a0001c0001t0004g0254	1	107	0.0093	30	c.296 others(49): Show c.296+29088_296+29089insATATATATATATATATATATATATTT TTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDXDC1_chr16_14970026_15043332	14984476	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	189	0.0053	30	c.21+ others(45): Show c.21+9276_21+9277insATATATATATATATATATATATATATATAT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXDC1_chr16_14970026_15043332	14984495	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0039	1	169	0.0059	30	c.21+ others(45): Show c.21+9276_21+9277insATATATATATATATATATATATATATATTT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0121 a0002c0011t0001g0121	1	30	0.0333	30	c.-36 others(51): Show c.-361+49917_-361+49918insATATATATATATATATATTTTTTT TCTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31849903	T T	TACATATA others(23): Show TACATATATATATATACACATATATATATAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0155 a0001c0001t0006g0155	1	175	0.0057	30	c.476 others(49): Show c.476+50196_476+50197insCATATATATATACACATATATATATA TACA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31849903	T T	TACATATA others(23): Show TACATATATATATATACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19057.hp1 HG00673.hp1 NA19057.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0004 a0001c0005 a0003c0004	a0001c0005t0024 a0003c0004t0003 a0001c0005t0024 a0003c0004t0003	a0001c0005t0024g0158 a0003c0004t0003g0022 a0001c0005t0024g0158 a0003c0004t0003g0022	2	176	0.0114	30	c.476 others(49): Show c.476+50257_476+50286dupTATATATATATACACATATATATATA TACA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31850226	G G	GTATATAT others(23): Show GTATATATATATATATATATAAGTATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0067 a0001c0007t0009g0067	1	155	0.0065	30	c.476 others(49): Show c.476+50520_476+50521insTAAGTATATATATATATATATATATA TATA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31969509	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0018 a0002c0003t0005g0018	1	22	0.0455	30	c.477 others(49): Show c.477-13620_477-13619insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar

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