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	149906519	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02083.hp2 HG02280.hp2 others(4): Show HG01891.hp1 HG02083.hp2 HG02280.hp2 HG03453.hp1 HG03669.hp2 NA19060.hp2 NA19082.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0029 a0007c0022 a0001c0001 a0001c0029 a0007c0022	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0065 a0001c0029t0073 a0007c0022t0002	a0001c0001t0002g0184 a0001c0001t0002g0192 a0001c0001t0004g0127 others(4): Show a0001c0001t0002g0184 a0001c0001t0002g0192 a0001c0001t0004g0127 a0001c0001t0011g0013 a0001c0001t0065g0105 a0001c0029t0073g0327 a0007c0022t0002g0189	7	69	0.1014	23	c.106 others(40): Show c.1065+792_1065+793insTTTTTTTTTTTTTTTTTTTTTTT	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	7/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0313 a0003c0007t0001g0313	1	69	0.0145	23	c.858 others(40): Show c.858+2796_858+2797insAAATATATATATATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0007 a0001c0016t0007	a0001c0016t0007g0311 a0001c0016t0007g0311	1	69	0.0145	23	c.858 others(40): Show c.858+2796_858+2797insAAAAAAAAATATATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18960.hp1 NA19091.hp2 HG03209.hp1 NA18960.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0072 a0001c0002t0003 a0001c0002t0005 a0001c0002t0072	a0001c0002t0003g0255 a0001c0002t0005g0269 a0001c0002t0072g0326 a0001c0002t0003g0255 a0001c0002t0005g0269 a0001c0002t0072g0326	3	71	0.0423	23	c.858 others(40): Show c.858+2796_858+2797insAAAAAAAAAAATATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02040.hp1 HG02818.hp1 others(6): Show HG00544.hp1 HG02040.hp1 HG02818.hp1 HG02896.hp1 HG03017.hp2 NA18747.hp2 NA18906.hp2 NA18980.hp2 NA19077.hp1	a0001 a0014 a0001 a0014	a0001c0002 a0001c0005 a0001c0033 others(1): Show a0001c0002 a0001c0005 a0001c0033 a0014c0027	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0005t0041 a0001c0033t0002 a0014c0027t0044	a0001c0002t0001g0245 a0001c0002t0001g0256 a0001c0002t0002g0250 others(6): Show a0001c0002t0001g0245 a0001c0002t0001g0256 a0001c0002t0002g0250 a0001c0002t0003g0252 a0001c0002t0004g0262 a0001c0002t0010g0287 a0001c0005t0041g0319 a0001c0033t0002g0249 a0014c0027t0044g0190	9	77	0.1169	23	c.858 others(40): Show c.858+2796_858+2797insAAAAAAAAAAAAATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03710.hp1 HG03710.hp2 HG02717.hp2 HG03710.hp1 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0008 a0001c0002 a0001c0005 a0001c0008	a0001c0002t0001 a0001c0005t0002 a0001c0008t0005 a0001c0002t0001 a0001c0005t0002 a0001c0008t0005	a0001c0002t0001g0226 a0001c0005t0002g0323 a0001c0008t0005g0276 a0001c0002t0001g0226 a0001c0005t0002g0323 a0001c0008t0005g0276	3	71	0.0423	23	c.858 others(40): Show c.858+2796_858+2797insAAAAAAAAAAAAAAATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(16): Show ATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01123.hp1 HG02027.hp1 others(1): Show HG00621.hp2 HG01123.hp1 HG02027.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0002t0010 a0001c0001t0004 a0001c0002t0002 a0001c0002t0010	a0001c0001t0004g0127 a0001c0002t0002g0237 a0001c0002t0002g0292 others(1): Show a0001c0001t0004g0127 a0001c0002t0002g0237 a0001c0002t0002g0292 a0001c0002t0010g0294	4	72	0.0556	23	c.858 others(40): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAAATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATTT others(16): Show ATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0304 a0001c0002t0003g0304	1	69	0.0145	23	c.858 others(40): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAAAAATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6H_chr12_14968042_14986865	14982038	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	169	0.0059	23	c.56 others(32): Show c.562_*563insTTTTTTTTTTTTTTTTTTTTTTT	PDE6H	ENSG00000139053.3	transcript	ENST00000266395.3	protein_coding		174		chr12	TogoVar
PDE7A_chr8_65709334_65847064	65730171	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0065 a0001c0001t0056g0065	1	28	0.0357	23	c.697 others(40): Show c.697-2893_697-2871dupAAAAAAAAAAAAAAAAAAAAAAA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	7/12			chr8	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0043 a0001c0001t0010g0043	1	87	0.0115	23	c.139 others(42): Show c.139-15364_139-15363insATATATATATATATATATATATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0087 a0001c0001t0012g0087	1	87	0.0115	23	c.139 others(42): Show c.139-15364_139-15363insAAATATATATATATATATATATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG01928.hp2 others(17): Show HG00423.hp1 HG00673.hp1 HG01928.hp2 HG02145.hp2 HG02559.hp2 HG02723.hp1 HG02897.hp1 NA18906.hp1 NA18957.hp1 NA18957.hp2 NA18967.hp1 NA18985.hp1 NA18986.hp2 NA18994.hp1 NA18998.hp1 NA19001.hp2 NA19011.hp2 NA19012.hp1 NA19060.hp1 NA19081.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0009 a0001c0001 a0001c0002 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0006c0009t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0086 others(17): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0086 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0232 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0334 a0001c0001t0002g0264 a0001c0002t0001g0327 a0006c0009t0001g0138 a0006c0009t0001g0141	20	84	0.2381	23	c.173 others(42): Show c.1735-1316_1735-1315insAAAAAAAAAAAAAAAAAAAAAAA	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(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02165.hp2 HG02735.hp2 others(2): Show HG01074.hp2 HG02165.hp2 HG02735.hp2 HG03704.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0001t0002 a0001c0001t0006 a0001c0001t0013	a0001c0001t0002g0170 a0001c0001t0002g0229 a0001c0001t0006g0059 others(2): Show a0001c0001t0002g0170 a0001c0001t0002g0229 a0001c0001t0006g0059 a0001c0001t0013g0081 a0001c0001t0013g0125	5	70	0.0714	23	c.116 others(42): Show c.1168-3220_1168-3198dupTTTTTTTTTTTTTTTTTTTTTTT	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(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03098.hp1 HG02965.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0304 a0001c0001t0001g0233 a0001c0001t0001g0304	2	82	0.0244	23	c.263 others(40): Show c.263-5145_263-5144insATATATATATATTTTTTTTTTTT	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(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA19057.hp1 NA18612.hp2 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0035 a0001c0003t0001g0245 a0001c0002t0002g0035 a0001c0003t0001g0245	2	82	0.0244	23	c.263 others(40): Show c.263-5145_263-5144insATATATATATTTTTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFA_chr7_492258_524846	499720	T T	TCCCCCCC others(16): Show TCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0119 a0001c0003t0002g0119	1	108	0.0093	23	c.581 others(40): Show c.581-1147_581-1146insGGGGGGGGGGGGGGGGGGGGGGG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	5/5			chr7	TogoVar
PDGFC_chr4_156755454_156976799	156851930	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	43	0.0233	23	c.119 others(40): Show c.119-1537_119-1515dupTTTTTTTTTTTTTTTTTTTTTTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFD_chr11_103902189_104169147	104119162	A A	ATAATATA others(16): Show ATAATATATTAATATAATATATTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0198 a0001c0002t0014g0198	1	186	0.0054	23	c.124 others(42): Show c.124+44641_124+44642insCAATATATTATATTAATATATTA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18942.hp2 NA18951.hp2 NA18747.hp2 NA18942.hp2 NA18951.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0009 a0001c0001 a0001c0002 a0007c0009	a0001c0001t0001 a0001c0002t0001 a0007c0009t0001 a0001c0001t0001 a0001c0002t0001 a0007c0009t0001	a0001c0001t0001g0156 a0001c0002t0001g0158 a0007c0009t0001g0157 a0001c0001t0001g0156 a0001c0002t0001g0158 a0007c0009t0001g0157	3	27	0.1111	23	c.353 others(38): Show c.353+491_353+492insAAAAAAAAAAAAAAAAAAAAAAA	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(16): Show TCCCCGCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18979.hp1 HG01109.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0091 a0001c0001t0001g0034 a0001c0001t0001g0091	2	41	0.0488	23	c.940 others(38): Show c.940-710_940-709insCCCCCCCCCCCCCCCCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641898	C C	CCCGCCCC others(16): Show CCCGCCCCCCCCCCCCCCCCCCCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0249 a0001c0004t0001g0249	1	392	0.0026	23	c.940 others(38): Show c.940-710_940-709insCCCCCCCCCCCCCCCCCTCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDIA2_chr16_278164_292215	285839	T T	TCCCAACC others(16): Show TCCCAACCCGGCGGTTCTCCCAAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp1 HG01261.hp2 others(4): Show HG00621.hp2 HG00642.hp1 HG01261.hp2 HG01361.hp2 HG01934.hp2 NA18952.hp1 NA18959.hp2	a0001 a0010 a0018 a0001 a0010 a0018	a0001c0001 a0010c0018 a0018c0036 a0001c0001 a0010c0018 a0018c0036	a0001c0001t0001 a0010c0018t0001 a0018c0036t0001 a0001c0001t0001 a0010c0018t0001 a0018c0036t0001	a0001c0001t0001g0025 a0010c0018t0001g0026 a0010c0018t0001g0042 others(2): Show a0001c0001t0001g0025 a0010c0018t0001g0026 a0010c0018t0001g0042 a0010c0018t0001g0043 a0018c0036t0001g0052	7	432	0.0162	23	c.111 others(40): Show c.1119+165_1119+187dupCCCGGCGGTTCTCCCAACCCCAA	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285871	G G	GGCGGTTC others(16): Show GGCGGTTCTCCCAACCCCAAACCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	430	0.0023	23	c.111 others(40): Show c.1119+188_1119+210dupACCCGCGGTTCTCCCAACCCCAA	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285983	T T	TCCCAACC others(16): Show TCCCAACCCCGCGGTTCTCCCAAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	315	0.0032	23	c.111 others(40): Show c.1119+300_1119+322dupCAACCCCAACCCCGCGGTTCTCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	286015	C C	CGCGGTTC others(16): Show CGCGGTTCTCCCAACCCCAACCCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02258.hp2 HG04184.hp2 HG01346.hp2 HG02258.hp2 HG04184.hp2	a0001 a0007 a0013 a0001 a0007 a0013	a0001c0001 a0007c0007 a0013c0059 a0001c0001 a0007c0007 a0013c0059	a0001c0001t0001 a0007c0007t0001 a0013c0059t0001 a0001c0001t0001 a0007c0007t0001 a0013c0059t0001	a0001c0001t0001g0103 a0007c0007t0001g0034 a0013c0059t0001g0073 a0001c0001t0001g0103 a0007c0007t0001g0034 a0013c0059t0001g0073	3	427	0.0070	23	c.111 others(40): Show c.1119+322_1119+323insCAACCCCAACCCTGCGGTTCTCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA5_chr3_123062025_123167104	123117374	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	11	0.0909	23	c.609 others(40): Show c.609+1076_609+1077insATATATATATATATATATATATA	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16			chr3	TogoVar
PDK3_chrX_24460286_24539422	24496568	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03654.hp1 HG06807.hp2 others(3): Show HG00735.hp1 HG03654.hp1 HG06807.hp2 NA18984.hp1 NA19066.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0135 a0001c0001t0001g0154 a0001c0001t0001g0234 others(3): Show a0001c0001t0001g0135 a0001c0001t0001g0154 a0001c0001t0001g0234 a0001c0001t0002g0068 a0001c0001t0002g0097 a0001c0001t0004g0221	6	115	0.0522	23	c.248 others(40): Show c.248+1686_248+1708dupTTTTTTTTTTTTTTTTTTTTTTT	PDK3	ENSG00000067992.17	transcript	ENST00000379162.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02486.hp1 HG02647.hp1 others(2): Show HG01496.hp1 HG02486.hp1 HG02647.hp1 HG04184.hp1 NA18984.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0001 a0002c0003t0003	a0001c0001t0001g0201 a0001c0001t0001g0233 a0002c0003t0001g0205 others(2): Show a0001c0001t0001g0201 a0001c0001t0001g0233 a0002c0003t0001g0205 a0002c0003t0003g0049 a0002c0003t0003g0066	5	91	0.0549	23	c.533 others(40): Show c.533+6877_533+6878insCTTTCTTTCTTTCTTTCTTTCTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM5_chr4_94446942_94673223	94494432	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0214 a0001c0001t0017g0214	1	31	0.0323	23	c.97- others(40): Show c.97-29290_97-29268dupTTTTTTTTTTTTTTTTTTTTTTT	PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDLIM7_chr5_177478394_177502604	177479679	T T	TCCTCACT others(16): Show TCCTCACTATGCTGGGCCCTGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	438	0.0023	23	c.39 others(34): Show c.3964_*3965insGGCCAGGGCCCAGCATAGTGAGG	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding		3714		chr5	TogoVar
PDPK1_chr16_2533021_2608188	2533430	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG03486.hp1 HG04228.hp1 others(1): Show HG02083.hp1 HG03486.hp1 HG04228.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0001 a0001c0001t0032	a0001c0001t0001g0087 a0001c0001t0001g0104 a0001c0001t0001g0129 others(1): Show a0001c0001t0001g0087 a0001c0001t0001g0104 a0001c0001t0001g0129 a0001c0001t0032g0128	4	8	0.5000	23	c.-46 others(34): Show c.-4683_-4682insTTTTTTTTTTTTTTTTTTTTTTT	PDPK1	ENSG00000140992.19	transcript	ENST00000342085.9	protein_coding		4590		chr16	TogoVar
PDS5A_chr4_39817863_39982911	39831875	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0336 a0001c0002t0004g0336	1	67	0.0149	23	c.401 others(42): Show c.4010+5958_4010+5980dupTTTTTTTTTTTTTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	32/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39930246	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAGTTTTTTT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0122 a0001c0002t0003g0122	1	284	0.0035	23	c.139 others(40): Show c.139-2083_139-2082insAAAAAAACTTTTTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	117	0.0085	23	c.313 others(40): Show c.313-2864_313-2863insATATATATATATATATATATTTT	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(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0301 a0001c0001t0016g0301	1	117	0.0085	23	c.313 others(40): Show c.313-2864_313-2863insATATATATATATATATTTTTTTT	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(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0101 a0001c0001t0004g0101	1	117	0.0085	23	c.313 others(40): Show c.313-2864_313-2863insATATATATATATATTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATTT others(16): Show ATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	117	0.0085	23	c.313 others(40): Show c.313-2864_313-2863insATATTTTTTTTTTTTTTTTTTTT	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(16): Show ATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	117	0.0085	23	c.313 others(40): Show c.313-2864_313-2863insATTTTTTTTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655375	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02735.hp1 NA18968.hp1 others(1): Show HG02559.hp2 HG02735.hp1 NA18968.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0024	a0001c0001t0003g0176 a0001c0001t0005g0187 a0001c0001t0011g0109 others(1): Show a0001c0001t0003g0176 a0001c0001t0005g0187 a0001c0001t0011g0109 a0001c0001t0024g0178	4	215	0.0186	23	c.313 others(40): Show c.313-2864_313-2863insATATATATATATATATATATATA	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34			chr13	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TATATATA others(16): Show TATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG03927.hp1 HG02056.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0098 a0001c0001t0001g0100	2	127	0.0157	23	c.-46 others(34): Show c.-4633_-4632insATATATATATATATATATATATA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01243.hp2 HG01346.hp2 others(3): Show HG00673.hp2 HG01243.hp2 HG01346.hp2 HG03540.hp2 NA18974.hp1 NA19058.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0005c0004t0006 a0001c0001t0001 a0005c0004t0006	a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0153 others(3): Show a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0153 a0001c0001t0001g0180 a0001c0001t0001g0181 a0005c0004t0006g0092	6	65	0.0923	23	c.163 others(38): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107458412	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03516.hp1 NA20300.hp1 HG02886.hp1 HG03516.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0236 a0001c0001t0007g0234 a0001c0001t0007g0235 a0001c0001t0001g0236 a0001c0001t0007g0234 a0001c0001t0007g0235	3	77	0.0390	23	c.296 others(38): Show c.296+577_296+578insTTTTTTTTTTTTTTTTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDXDC1_chr16_14970026_15043332	14984496	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	242	0.0041	23	c.21+ others(38): Show c.21+9276_21+9277insATATATATATATATATATATATA	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22			chr16	TogoVar
PDXK_chr21_43714129_43767299	43741188	G G	GGGGGGGC others(16): Show GGGGGGGCTCGCGGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	308	0.0032	23	c.143 others(38): Show c.143-459_143-458insGGCGGGGGGCTCGCGGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741234	G G	GGGGGGGC others(16): Show GGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0080 a0001c0002t0028g0080	1	318	0.0031	23	c.143 others(38): Show c.143-416_143-415insGCTCGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741268	G G	GGGGGGGC others(16): Show GGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0235 a0001c0001t0004g0235	1	302	0.0033	23	c.143 others(38): Show c.143-392_143-370dupCTCGCGGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741315	G G	GGGGGGGC others(16): Show GGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0256 a0001c0001t0004g0256	1	304	0.0033	23	c.143 others(38): Show c.143-335_143-334insGCTCGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741338	G G	GGGGGGCT others(16): Show GGGGGGCTCGCGGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	299	0.0033	23	c.143 others(38): Show c.143-324_143-323insCTCGCGGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741350	G G	GGGGGGGC others(16): Show GGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0081 a0001c0002t0041g0081	1	296	0.0034	23	c.143 others(38): Show c.143-300_143-299insGCTCGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar

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