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
PDE6C_chr10_93607537_93671010	93644901	G G	GTATATAT others(25): Show GTATATATATATACACTATATCGATATAGTATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00735.hp2 others(33): Show HG00597.hp1 HG00609.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01258.hp1 HG01515.hp1 HG01516.hp1 HG01952.hp1 HG01975.hp2 HG02015.hp1 HG02074.hp1 HG02083.hp2 HG02148.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG03490.hp2 HG03710.hp2 NA18939.hp2 NA18943.hp2 NA18953.hp1 NA18971.hp2 NA18981.hp1 NA18992.hp2 NA18993.hp1 NA19082.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0004 a0002c0008 a0002c0009 a0002c0010	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0002c0004t0001 a0002c0008t0001 a0002c0009t0001 a0002c0010t0001	a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0107 others(33): Show a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0355 a0001c0005t0001g0021 a0002c0002t0001g0080 a0002c0002t0001g0101 a0002c0002t0001g0225 a0002c0002t0001g0232 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0278 a0002c0002t0001g0287 a0002c0002t0001g0296 a0002c0002t0001g0334 a0002c0004t0001g0095 a0002c0008t0001g0012 a0002c0008t0001g0367 a0002c0009t0001g0200 a0002c0010t0001g0023	36	53	0.6792	32	c.184 others(51): Show c.1848-1051_1848-1050insTATACACTATATCGATATAGTATATA TATATA	PDE6C	ENSG00000095464.10	transcript	ENST00000371447.4	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDE7A_chr8_65709334_65847064	65730171	C C	CTTCTTTT others(25): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0054 a0001c0001t0046g0054	1	28	0.0357	32	c.697 others(49): Show c.697-2871_697-2870insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AGAA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	7/12			chr8	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(25): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0048	a0002c0002t0048g0055 a0002c0002t0048g0055	1	87	0.0115	32	c.139 others(51): Show c.139-15364_139-15363insAAAAAAAAAAAAAAAAAAAAAATATA TATATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE7B_chr6_135846701_136200574	135928465	T T	TTATTTAT others(25): Show TTATTTATATATATATATTTATTTATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG02615.hp2 others(10): Show HG00099.hp2 HG00642.hp1 HG02615.hp2 HG02723.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG06807.hp1 NA18906.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0039 a0001c0002t0016 a0003c0007t0014	a0001c0001t0001g0107 a0001c0001t0001g0123 a0001c0001t0002g0008 others(10): Show a0001c0001t0001g0107 a0001c0001t0001g0123 a0001c0001t0002g0008 a0001c0001t0002g0059 a0001c0001t0002g0095 a0001c0001t0005g0005 a0001c0001t0029g0053 a0001c0001t0032g0055 a0001c0001t0034g0054 a0001c0001t0036g0040 a0001c0001t0039g0015 a0001c0002t0016g0003 a0003c0007t0014g0068	13	136	0.0956	32	c.22- others(49): Show c.22-18966_22-18935dupTATTTATATATATATATTTATTTATATA TATA	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	136148466	A A	AAGGCAGG others(25): Show AAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	81	0.0123	32	c.319 others(47): Show c.319-618_319-617insCAGGCAGGCAGGCAGGCAGGCAGGCAGGCA GG	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	136148470	A A	AAGGCAGG others(25): Show AAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18979.hp2 NA18982.hp1 NA18953.hp1 NA18979.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0025 a0001c0001t0008 a0001c0001t0025	a0001c0001t0008g0043 a0001c0001t0008g0076 a0001c0001t0025g0119 a0001c0001t0008g0043 a0001c0001t0008g0076 a0001c0001t0025g0119	3	54	0.0556	32	c.319 others(47): Show c.319-588_319-587insGGCAGGCAGGCAGGCAGGCAGGCAGGCAGG CA	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	65	0.0154	32	c.173 others(51): Show c.1735-1316_1735-1315insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	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(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	66	0.0152	32	c.116 others(51): Show c.1168-3198_1168-3197insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42653533	G G	GGGGGGAG others(25): Show GGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0319 a0001c0002t0001g0319	1	318	0.0031	32	c.-28 others(41): Show c.-282_-281insGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		87		chr21	TogoVar
PDE9A_chr21_42648621_42780509	42653533	G G	GGGGGGAG others(25): Show GGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 NA19043.hp2 HG00099.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0311 a0001c0002t0001g0314 a0001c0001t0001g0311 a0001c0002t0001g0314	2	319	0.0063	32	c.-28 others(41): Show c.-282_-281insGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		87		chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0277 a0001c0001t0003g0277	1	81	0.0123	32	c.263 others(49): Show c.263-5145_263-5144insATATATATATATATATATATTTTTTTTT TTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFC_chr4_156755454_156976799	156824327	T T	TATATATA others(25): Show TATATATATATATATATACACATATACACATAC	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18980.hp2 HG03942.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0025 a0001c0002t0006 a0001c0002t0025	a0001c0002t0006g0082 a0001c0002t0025g0081 a0001c0002t0006g0082 a0001c0002t0025g0081	2	116	0.0172	32	c.315 others(51): Show c.315-13311_315-13310insGTATGTGTATATGTGTATATATATAT ATATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFD_chr11_103902189_104169147	104082133	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01256.hp1 NA19063.hp2 others(2): Show HG00639.hp2 HG01256.hp1 NA19063.hp2 NA19083.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0006 a0001c0001t0003 a0001c0002t0001 a0001c0002t0006	a0001c0001t0003g0140 a0001c0002t0001g0006 a0001c0002t0001g0091 others(2): Show a0001c0001t0003g0140 a0001c0002t0001g0006 a0001c0002t0001g0091 a0001c0002t0001g0149 a0001c0002t0006g0088	5	110	0.0455	32	c.124 others(51): Show c.124+81670_124+81671insATATATATATATATATATATATATAT ATATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104119437	G G	GATATAAT others(25): Show GATATAATATATAATATATTGATATAATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	141	0.0071	32	c.124 others(51): Show c.124+44366_124+44367insTATATATTATATCAATATATTATATA TTATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRL_chr8_17572216_17648144	17580344	T T	TAGTTCTT others(25): Show TAGTTCTTTTATCATTTAAGAGCTCATTAGTTA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0272	1	398	0.0025	32	c.55+ others(47): Show c.55+3037_55+3038insAGTTCTTTTATCATTTAAGAGCTCATTAGT TA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	1/5			chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp2 NA18963.hp1 others(5): Show NA18941.hp1 NA18941.hp2 NA18963.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0071 a0001c0001t0001g0256 a0001c0001t0001g0258 others(5): Show a0001c0001t0001g0071 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0257 a0001c0002t0001g0260	8	32	0.2500	32	c.353 others(47): Show c.353+491_353+492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	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(25): Show TCCCCGCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19043.hp2 HG03098.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0254 a0001c0001t0001g0217 a0001c0001t0001g0254	2	41	0.0488	32	c.940 others(47): Show c.940-710_940-709insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG CC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(25): Show TCCCCGCCCGCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	40	0.0250	32	c.940 others(47): Show c.940-710_940-709insCGCCCCCCCCCCCCCCCCCCCCCCCCCCCG CC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDHX_chr11_34911618_35001128	34949320	A A	ACCTCCGC others(25): Show ACCTCCGCCTCCTGGGTTGAAATGATTTTCCTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01361.hp1 HG01496.hp2 others(38): Show HG01192.hp2 HG01361.hp1 HG01496.hp2 HG01943.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03654.hp1 HG03710.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA19043.hp2 NA19054.hp2 NA19078.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0014 a0001c0017 a0001c0023 others(5): Show a0001c0014 a0001c0017 a0001c0023 a0001c0026 a0002c0004 a0002c0005 a0002c0007 a0007c0015	a0001c0014t0009 a0001c0017t0007 a0001c0023t0009 others(6): Show a0001c0014t0009 a0001c0017t0007 a0001c0023t0009 a0001c0026t0013 a0002c0004t0004 a0002c0004t0005 a0002c0005t0005 a0002c0007t0004 a0007c0015t0004	a0001c0014t0009g0105 a0001c0014t0009g0106 a0001c0017t0007g0144 others(32): Show a0001c0014t0009g0105 a0001c0014t0009g0106 a0001c0017t0007g0144 a0001c0023t0009g0199 a0001c0026t0013g0050 a0002c0004t0004g0222 a0002c0004t0004g0224 a0002c0004t0004g0232 a0002c0004t0004g0233 a0002c0004t0004g0234 a0002c0004t0004g0235 a0002c0004t0004g0236 a0002c0004t0004g0237 a0002c0004t0004g0238 a0002c0004t0004g0239 a0002c0004t0004g0240 a0002c0004t0004g0265 a0002c0004t0004g0266 a0002c0004t0005g0007 a0002c0005t0005g0007 a0002c0005t0005g0008 a0002c0005t0005g0026 a0002c0005t0005g0027 a0002c0005t0005g0263 a0002c0005t0005g0267 a0002c0005t0005g0268 a0002c0005t0005g0269 a0002c0007t0004g0022 a0002c0007t0004g0223 a0002c0007t0004g0226 a0002c0007t0004g0228 a0002c0007t0004g0229 a0002c0007t0004g0230 a0002c0007t0004g0231 a0007c0015t0004g0225	41	312	0.1314	32	c.342 others(49): Show c.342+1719_342+1750dupCGCCTCCTGGGTTGAAATGATTTTCCTG CCTC	PDHX	ENSG00000110435.13	transcript	ENST00000227868.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDIA5_chr3_123062025_123167104	123117372	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	327	0.0031	32	c.609 others(49): Show c.609+1075_609+1076insATATATATATATATATATATATATATAT ATAT	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(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01167.hp1 HG02258.hp2 others(4): Show HG01106.hp1 HG01167.hp1 HG02258.hp2 HG02922.hp1 NA18939.hp1 NA18948.hp2 NA18989.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0015 a0001c0001 a0001c0002 a0006c0015	a0001c0001t0001 a0001c0002t0001 a0006c0015t0001 a0001c0001t0001 a0001c0002t0001 a0006c0015t0001	a0001c0001t0001g0169 a0001c0001t0001g0275 a0001c0002t0001g0030 others(4): Show a0001c0001t0001g0169 a0001c0001t0001g0275 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0085 a0001c0002t0001g0117 a0006c0015t0001g0220	7	17	0.4118	32	c.609 others(49): Show c.609+1101_609+1102insATATATATATATATATATATATATATAT ATAT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02735.hp1 HG00642.hp2 HG02735.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0003 a0001c0001t0004 a0002c0003t0003	a0001c0001t0004g0221 a0002c0003t0003g0296 a0001c0001t0004g0221 a0002c0003t0003g0296	2	88	0.0227	32	c.533 others(49): Show c.533+6846_533+6877dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM1_chr10_95232572_95296003	95257001	A A	AAGAAAAG others(25): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0148	1	328	0.0030	32	c.533 others(49): Show c.533+6862_533+6863insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM1_chr10_95232572_95296003	95257038	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03486.hp1 HG03130.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0262 a0001c0001t0001g0051 a0001c0001t0001g0262	2	238	0.0084	32	c.533 others(49): Show c.533+6825_533+6826insATTTTTTTCTTTCTTTCTTTCTTTCTTT CTTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM5_chr4_94446942_94673223	94542307	C C	CAAATAAA others(25): Show CAAATAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG06807.hp2 HG03942.hp2 HG06807.hp2	a0001 a0010 a0001 a0010	a0001c0006 a0010c0012 a0001c0006 a0010c0012	a0001c0006t0015 a0010c0012t0010 a0001c0006t0015 a0010c0012t0010	a0001c0006t0015g0098 a0010c0012t0010g0217 a0001c0006t0015g0098 a0010c0012t0010g0217	2	188	0.0106	32	c.248 others(51): Show c.248+18459_248+18460insTAAATAAATAAATAAATAAATAAATA AATAAA	PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDPN_chr1_13578832_13622957	13618013	T T	TCCAGATA others(25): Show TCCAGATAAGATTACAACTTAGGTAAATGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	444	0.0023	32	c.21 others(43): Show c.2102_*2103insCCAGATAAGATTACAACTTAGGTAAATGCCTG	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding		57		chr1	TogoVar
PDS5A_chr4_39817863_39982911	39842903	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0330 a0001c0002t0004g0330	1	298	0.0034	32	c.354 others(49): Show c.3549-848_3549-847insTATATATATATATATATATATATATATA TATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842909	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02970.hp1 NA19004.hp2 HG02602.hp1 HG02970.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0049 a0001c0001t0001g0083 a0001c0001t0002g0247 a0001c0001t0001g0049 a0001c0001t0001g0083 a0001c0001t0002g0247	3	23	0.1304	32	c.354 others(49): Show c.3549-854_3549-853insTATATATATATATATATATATATATATA TATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655359	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02683.hp1 HG03688.hp1 HG00544.hp1 HG02683.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0171 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0171	3	286	0.0105	32	c.313 others(49): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATAT	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(25): Show ATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	117	0.0085	32	c.313 others(49): Show c.313-2864_313-2863insATATATATATATATATATTTTTTTTTTT TTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDSS1_chr10_26692701_26751798	26693076	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	414	0.0024	32	c.-46 others(43): Show c.-4636_-4635insATATATATATATATATATATATATATATATAT	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4624		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01928.hp2 HG02015.hp2 others(10): Show HG00558.hp2 HG01928.hp2 HG02015.hp2 HG02155.hp1 HG02630.hp1 HG02698.hp2 HG03704.hp2 NA18971.hp1 NA18974.hp1 NA18990.hp1 NA18995.hp1 NA19075.hp1 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0005c0004t0006 a0001c0001t0001 a0005c0004t0006	a0001c0001t0001g0020 a0001c0001t0001g0054 a0001c0001t0001g0057 others(10): Show a0001c0001t0001g0020 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0089 a0001c0001t0001g0118 a0001c0001t0001g0142 a0001c0001t0001g0161 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0225 a0005c0004t0006g0092	13	138	0.0942	32	c.-46 others(43): Show c.-4633_-4632insTATATATATATATATATATATATATATATATA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02004.hp1 NA19064.hp2 HG00438.hp1 HG02004.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064	3	62	0.0484	32	c.163 others(47): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107173572	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	57	0.0175	32	c.104 others(53): Show c.1042-18796_1042-18795insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	7/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107225135	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	230	0.0043	32	c.703 others(51): Show c.703-12854_703-12853insTATATATATATATATATATATATATA TATATA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	107	0.0093	32	c.296 others(51): Show c.296+29088_296+29089insATATATATATATATATATATTTTTTT TTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	107	0.0093	32	c.296 others(51): Show c.296+29088_296+29089insATATATATATATATATATATATATTT TTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	107	0.0093	32	c.296 others(51): Show c.296+29088_296+29089insATATATATATATATATATATATATAT TTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	107	0.0093	32	c.296 others(51): Show c.296+29088_296+29089insATATATATATATATATATATATATAT ATATTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDXDC1_chr16_14970026_15043332	14984476	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01978.hp2 HG02004.hp1 HG00673.hp2 HG01978.hp2 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0008 a0002c0002t0001 a0002c0002t0008	a0002c0002t0001g0012 a0002c0002t0001g0049 a0002c0002t0008g0104 a0002c0002t0001g0012 a0002c0002t0001g0049 a0002c0002t0008g0104	3	191	0.0157	32	c.21+ others(47): Show c.21+9276_21+9277insATATATATATATATATATATATATATATAT AT	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(25): Show ATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03195.hp2 HG02056.hp1 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0018 a0002c0002 a0002c0018	a0002c0002t0001 a0002c0018t0001 a0002c0002t0001 a0002c0018t0001	a0002c0002t0001g0034 a0002c0018t0001g0176 a0002c0002t0001g0034 a0002c0018t0001g0176	2	170	0.0118	32	c.21+ others(47): Show c.21+9276_21+9277insATATATATATATATATATATATATATATAT TT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GCGGGGGG others(25): Show GCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	305	0.0033	32	c.143 others(47): Show c.143-516_143-515insCGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10			chr21	TogoVar
PDXK_chr21_43714129_43767299	43741165	G G	GGGGGGCT others(25): Show GGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0075 a0001c0001t0030 a0001c0001t0075	a0001c0001t0030g0001 a0001c0001t0030g0023 a0001c0001t0075g0001 a0001c0001t0030g0001 a0001c0001t0030g0023 a0001c0001t0075g0001	3	282	0.0106	32	c.143 others(47): Show c.143-497_143-496insCTGGCGGGGGGCTCGCGGGGGGCTGGCGGG GG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741200	G G	GGGGGGCT others(25): Show GGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0335 a0001c0001t0005g0335	1	325	0.0031	32	c.143 others(47): Show c.143-462_143-461insCTCGCGGGGGGCTGGCGGGGGGCTGGCGGG GG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741280	G G	GGGGGGCT others(25): Show GGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0274 a0001c0001t0021g0274	1	299	0.0033	32	c.143 others(47): Show c.143-382_143-381insCTGGCGGGGGGCTCGCGGGGGGCTGGCGGG GG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741292	G G	GGGGGGCT others(25): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19004.hp2 NA19003.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0158 a0001c0001t0002g0003 a0001c0001t0002g0158	2	325	0.0062	32	c.143 others(47): Show c.143-370_143-369insCTCGCGGGGGGCTCGCGGGGGGCTGGCGGG GG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43755172	T T	TTGACTCT others(25): Show TTGACTCTGAGGCATCACTGAGTGATGATTGGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp2 HG02630.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	2	348	0.0057	32	c.760 others(47): Show c.760-395_760-364dupACTCTGAGGCATCACTGAGTGATGATTGGC TG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(25): Show ATATATATATATATATATATTTTTTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	30	0.0333	32	c.-36 others(53): Show c.-361+49917_-361+49918insATATATATATATATATATTTTTTT TTTCTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(25): Show ATATATATATATATATATTTTTTTTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0027 a0003c0004t0027	a0003c0004t0027g0139 a0003c0004t0027g0139	1	30	0.0333	32	c.-36 others(53): Show c.-361+49917_-361+49918insATATATATATATATATTTTTTTTT TTTCTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31694792	T T	TTATTTTA others(25): Show TTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0048 a0001c0005t0048	a0001c0005t0048g0002 a0001c0005t0048g0002	1	171	0.0058	32	c.-36 others(53): Show c.-361+55355_-361+55356insTATTTTATTTTATTTTATTTTATT TTATTTTA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24			chr5	TogoVar

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