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
PDE9A_chr21_42648621_42780509	42740614	GATGGATG others(13): Show GATGGATGGATGAATGGATAC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0302 a0001c0002t0002g0302	1	324	0.0031	-20	c.569 others(37): Show c.569-3159_569-3140delGGATGGATGAATGGATACAT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42759370	GGTGTGTG others(13): Show GGTGTGTGGGAGCGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0273 a0003c0008t0001g0273	1	324	0.0031	-20	c.897 others(35): Show c.897+311_897+330delTGGGAGCGTGTGTGTGTGTG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42769625	CACACACA others(13): Show CACACACAGGCACACACAGGG	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0313 a0001c0002t0001g0313	1	324	0.0031	-20	c.159 others(37): Show c.1590+486_1590+505delCAGGGACACACAGGCACACA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFA_chr7_492258_524846	502768	TCACACAC others(13): Show TCACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0116 a0001c0001t0073g0116	1	302	0.0033	-20	c.454 others(37): Show c.454-1546_454-1527delTGTGTGTGTGTGTGTGTGTG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDGFA_chr7_492258_524846	518715	GCTGCTCC others(13): Show GCTGCTCCCCGGTCCCCCCGA	G G	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0146 a0001c0001t0020g0146	1	302	0.0033	-20	c.63+ others(33): Show c.63+204_63+223delTCGGGGGGACCGGGGAGCAG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	1/5			chr7	TogoVar
PDGFB_chr22_39218359_39249982	39247873	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	386	0.0026	-20	c.-39 others(31): Show c.-3930_-3911delATATTTTTTTTTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2892		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247875	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	386	0.0026	-20	c.-39 others(31): Show c.-3932_-3913delATATATTTTTTTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2894		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247877	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG03195.hp2 HG02683.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0002g0243 a0001c0001t0001g0016 a0001c0001t0002g0243	2	386	0.0052	-20	c.-39 others(31): Show c.-3934_-3915delATATATATTTTTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2896		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247879	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG03540.hp2 homoSapiens_chm13v2.hp1 HG00140.hp1 HG03540.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0016 a0001c0001t0004g0026 a0001c0001t0001g0016 a0001c0001t0004g0026	3	386	0.0078	-20	c.-39 others(31): Show c.-3936_-3917delATATATATATTTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2898		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247883	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0250 a0001c0001t0043g0250	1	386	0.0026	-20	c.-39 others(31): Show c.-3940_-3921delATATATATATATATTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2902		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39249777	GCGCACAC others(13): Show GCGCACACACACACACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	386	0.0026	-20	c.-58 others(31): Show c.-5834_-5815delTGTGTGTGTGTGTGTGTGCG	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		4796		chr22	TogoVar
PDGFC_chr4_156755454_156976799	156824285	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	208	0.0048	-20	c.315 others(39): Show c.315-13288_315-13269delATATATATATATATATATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156891279	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp1 HG03540.hp2 others(1): Show HG02622.hp2 HG02717.hp1 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0012 a0001c0001t0011 a0001c0001t0012	a0001c0001t0011g0091 a0001c0001t0011g0092 a0001c0001t0012g0181 others(1): Show a0001c0001t0011g0091 a0001c0001t0011g0092 a0001c0001t0012g0181 a0001c0001t0012g0183	4	208	0.0192	-20	c.119 others(39): Show c.119-40883_119-40864delTTTTTTTTTTTTTTTTTTTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156945342	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02129.hp1 HG02155.hp2 others(23): Show HG01123.hp1 HG02129.hp1 HG02155.hp2 HG02486.hp1 HG02622.hp2 HG02683.hp2 HG02723.hp2 HG02965.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03669.hp1 HG04228.hp2 NA18612.hp1 NA18950.hp2 NA18955.hp1 NA18964.hp2 NA18967.hp2 NA18985.hp1 NA19056.hp2 NA19066.hp1 NA19079.hp2 NA19085.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0032 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 others(23): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0097 a0001c0001t0005g0175 a0001c0001t0009g0172 a0001c0001t0010g0006 a0001c0001t0010g0008 a0001c0001t0010g0009 a0001c0001t0010g0011 a0001c0001t0012g0181 a0001c0001t0012g0183 a0001c0001t0023g0013 a0001c0001t0024g0012 a0001c0001t0028g0085 a0001c0001t0032g0010 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0077 a0001c0002t0002g0086 a0001c0002t0002g0167 a0001c0002t0005g0062 a0001c0002t0005g0063 a0001c0002t0005g0070	26	208	0.1250	-20	c.118 others(39): Show c.118+25424_118+25443delATATATATATATATATATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156974933	AATATATA others(13): Show AATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03195.hp1 HG03486.hp2 HG02922.hp2 HG03195.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0020 a0001c0001t0024 a0001c0001t0004 a0001c0001t0020 a0001c0001t0024	a0001c0001t0004g0176 a0001c0001t0020g0004 a0001c0001t0024g0012 a0001c0001t0004g0176 a0001c0001t0020g0004 a0001c0001t0024g0012	3	208	0.0144	-20	c.-40 others(31): Show c.-4050_-4031delATATATATATATATATATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding		3135		chr4	TogoVar
PDGFD_chr11_103902189_104169147	103955163	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG04199.hp2 HG03471.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0160 a0001c0001t0003g0120 a0001c0001t0002g0160 a0001c0001t0003g0120	2	200	0.0100	-20	c.511 others(37): Show c.511-7459_511-7440delTTTTTTTTTTTTTTTTTTTT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104119308	TGATATAA others(13): Show TGATATAATATATTGATATAA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02040.hp1 HG02622.hp2 others(10): Show HG01256.hp2 HG02040.hp1 HG02622.hp2 HG02809.hp2 HG02970.hp2 HG03471.hp2 NA18964.hp2 NA18970.hp1 NA18979.hp2 NA18995.hp2 NA19065.hp2 NA19083.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0002t0001 a0001c0002t0012	a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0139 others(10): Show a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0139 a0001c0001t0003g0120 a0001c0001t0003g0128 a0001c0001t0003g0131 a0001c0001t0011g0116 a0001c0002t0001g0130 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0012g0147	13	200	0.0650	-20	c.124 others(39): Show c.124+44476_124+44495delTTATATCAATATATTATATC	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRA_chr4_54224293_54303245	54286319	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0022 a0002c0005t0022	a0002c0005t0022g0011 a0002c0005t0022g0011	1	300	0.0033	-20	c.256 others(37): Show c.2562+380_2562+399delATTTATTTATTTATTTATTT	PDGFRA	ENSG00000134853.12	transcript	ENST00000257290.10	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDGFRB_chr5_150108839_150160845	150117540	GCGCGCAC others(13): Show GCGCGCACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0052 a0002c0003t0005g0052	1	418	0.0024	-20	c.313 others(35): Show c.3137+58_3137+77delTGTGTGTGTGTGTGTGCGCG	PDGFRB	ENSG00000113721.14	transcript	ENST00000261799.9	protein_coding	22/22			chr5	TogoVar
PDGFRL_chr8_17572216_17648144	17638738	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01123.hp1 HG02165.hp2 others(16): Show HG00735.hp1 HG01123.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03579.hp1 HG04115.hp1 NA18994.hp1 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0014	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0004t0001 a0001c0014t0001	a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0041 others(16): Show a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0083 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0305 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0379 a0001c0001t0001g0398 a0001c0001t0007g0350 a0001c0002t0001g0061 a0001c0002t0001g0104 a0001c0002t0001g0190 a0001c0002t0001g0198 a0001c0002t0001g0251 a0001c0004t0001g0366 a0001c0014t0001g0021	19	400	0.0475	-20	c.940 others(37): Show c.940-3845_940-3826delTATATATATATATATATATA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDIA4_chr7_148998062_149033505	149017639	TAAATACA others(13): Show TAAATACATTTTATCAAAATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02080.hp2 HG02257.hp2 others(16): Show HG01891.hp2 HG02080.hp2 HG02257.hp2 HG02451.hp2 HG02572.hp1 HG02717.hp2 HG02922.hp2 HG03209.hp2 HG03225.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA18949.hp1 NA18966.hp1 NA18966.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA21309.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0009 a0001c0011 others(2): Show a0001c0001 a0001c0009 a0001c0011 a0003c0004 a0010c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0001t0018 a0001c0009t0004 a0001c0011t0004 a0003c0004t0001 a0010c0015t0004	a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0120 others(12): Show a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0120 a0001c0001t0001g0193 a0001c0001t0004g0197 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0005g0019 a0001c0001t0006g0020 a0001c0001t0016g0052 a0001c0001t0018g0048 a0001c0009t0004g0046 a0001c0011t0004g0099 a0003c0004t0001g0154 a0010c0015t0004g0203	19	352	0.0540	-20	c.475 others(37): Show c.475+1333_475+1352delTATTTTGATAAAATGTATTT	PDIA4	ENSG00000155660.11	transcript	ENST00000652332.1	protein_coding	3/9			chr7	TogoVar
PDIA5_chr3_123062025_123167104	123151734	TCCTGCCT others(13): Show TCCTGCCTGCCTGCCTGCCTG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG06807.hp2 NA19030.hp1 HG02809.hp1 HG06807.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0081 a0001c0001t0001g0106 a0002c0007t0001g0289 a0001c0001t0001g0081 a0001c0001t0001g0106 a0002c0007t0001g0289	3	332	0.0090	-20	c.127 others(39): Show c.1273+1399_1273+1418delCCTGCCTGCCTGCCTGCCTG	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDILT_chr16_20354175_20409737	20366936	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(52): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01167.hp2 HG01243.hp1 HG01358.hp1 HG01515.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG02027.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02155.hp2 HG02258.hp1 HG02683.hp1 HG02698.hp2 HG02886.hp1 HG02965.hp2 HG03130.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18944.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18991.hp1 NA18997.hp1 NA19030.hp2 NA19043.hp1 NA19077.hp1 NA19080.hp1 NA20805.hp1 NA21309.hp1	a0003 a0004 a0007 others(2): Show a0003 a0004 a0007 a0008 a0012	a0003c0002 a0004c0006 a0007c0011 others(2): Show a0003c0002 a0004c0006 a0007c0011 a0008c0012 a0012c0019	a0003c0002t0001 a0004c0006t0001 a0007c0011t0001 others(2): Show a0003c0002t0001 a0004c0006t0001 a0007c0011t0001 a0008c0012t0001 a0012c0019t0001	a0003c0002t0001g0006 a0003c0002t0001g0024 a0003c0002t0001g0026 others(51): Show a0003c0002t0001g0006 a0003c0002t0001g0024 a0003c0002t0001g0026 a0003c0002t0001g0033 a0003c0002t0001g0060 a0003c0002t0001g0061 a0003c0002t0001g0063 a0003c0002t0001g0066 a0003c0002t0001g0074 a0003c0002t0001g0075 a0003c0002t0001g0085 a0003c0002t0001g0103 a0003c0002t0001g0104 a0003c0002t0001g0112 a0003c0002t0001g0113 a0003c0002t0001g0120 a0003c0002t0001g0121 a0003c0002t0001g0122 a0003c0002t0001g0129 a0003c0002t0001g0130 a0003c0002t0001g0131 a0003c0002t0001g0133 a0003c0002t0001g0166 a0003c0002t0001g0191 a0003c0002t0001g0192 a0003c0002t0001g0201 a0003c0002t0001g0203 a0003c0002t0001g0206 a0003c0002t0001g0207 a0003c0002t0001g0208 a0003c0002t0001g0209 a0003c0002t0001g0218 a0003c0002t0001g0222 a0003c0002t0001g0224 a0003c0002t0001g0234 a0003c0002t0001g0237 a0003c0002t0001g0244 a0003c0002t0001g0245 a0003c0002t0001g0268 a0003c0002t0001g0280 a0003c0002t0001g0308 a0003c0002t0001g0309 a0003c0002t0001g0354 a0003c0002t0001g0381 a0004c0006t0001g0043 a0004c0006t0001g0238 a0004c0006t0001g0327 a0004c0006t0001g0328 a0004c0006t0001g0332 a0007c0011t0001g0216 a0007c0011t0001g0293 a0007c0011t0001g0307 a0008c0012t0001g0169 a0012c0019t0001g0052	55	406	0.1355	-20	c.111 others(39): Show c.1117-1416_1117-1397delGGAAGGAAGGAAGGAAGGAA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	8/11			chr16	TogoVar
PDILT_chr16_20354175_20409737	20367024	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00733.hp1 others(22): Show HG00140.hp1 HG00558.hp1 HG00733.hp1 HG01167.hp2 HG01243.hp1 HG01358.hp1 HG01358.hp2 HG01516.hp1 HG01993.hp2 HG02486.hp2 HG02683.hp1 HG02698.hp2 HG02976.hp1 HG03490.hp2 HG03492.hp2 HG03834.hp1 HG04204.hp2 NA18906.hp1 NA18980.hp2 NA18991.hp1 NA19011.hp1 NA19043.hp1 NA19056.hp1 NA19240.hp2 NA20805.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0011 a0012	a0001c0001 a0001c0009 a0002c0003 others(7): Show a0001c0001 a0001c0009 a0002c0003 a0002c0005 a0003c0002 a0003c0029 a0004c0006 a0006c0010 a0011c0013 a0012c0019	a0001c0001t0001 a0001c0009t0001 a0002c0003t0001 others(7): Show a0001c0001t0001 a0001c0009t0001 a0002c0003t0001 a0002c0005t0001 a0003c0002t0001 a0003c0029t0001 a0004c0006t0001 a0006c0010t0001 a0011c0013t0002 a0012c0019t0001	a0001c0001t0001g0084 a0001c0001t0001g0198 a0001c0001t0001g0393 others(21): Show a0001c0001t0001g0084 a0001c0001t0001g0198 a0001c0001t0001g0393 a0001c0009t0001g0248 a0001c0009t0001g0282 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0005t0001g0123 a0003c0002t0001g0006 a0003c0002t0001g0024 a0003c0002t0001g0066 a0003c0002t0001g0113 a0003c0002t0001g0129 a0003c0002t0001g0192 a0003c0002t0001g0206 a0003c0002t0001g0208 a0003c0002t0001g0218 a0003c0002t0001g0354 a0003c0029t0001g0143 a0004c0006t0001g0043 a0006c0010t0001g0155 a0011c0013t0002g0021 a0012c0019t0001g0052	25	406	0.0616	-20	c.111 others(39): Show c.1117-1504_1117-1485delAGAAAGAAAGAAAGAAAGAA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	8/11			chr16	TogoVar
PDK4_chr7_95578499_95601516	95580039	TTATATAT others(13): Show TTATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG02129.hp2 HG03491.hp1 others(2): Show HG01517.hp2 HG02129.hp2 HG03491.hp1 HG03579.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0002t0006 a0001c0003t0003 a0001c0002t0003 a0001c0002t0006 a0001c0003t0003	a0001c0002t0003g0031 a0001c0002t0006g0026 a0001c0002t0006g0054 others(1): Show a0001c0002t0003g0031 a0001c0002t0006g0026 a0001c0002t0006g0054 a0001c0003t0003g0010	5	384	0.0130	-20	c.55 others(31): Show c.5582_*5601delTATATATATATATATATATA	PDK4	ENSG00000004799.8	transcript	ENST00000005178.6	protein_coding		3459		chr7	TogoVar
PDLIM2_chr8_22575475_22599298	22599069	CCCCTCCC others(13): Show CCCCTCCCCTCCCTCTCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0063 a0002c0003t0001g0063	1	380	0.0026	-20	c.51 others(31): Show c.5160_*5179delCCCTCCCCTCCCTCTCCTCT	PDLIM2	ENSG00000120913.24	transcript	ENST00000409417.6	protein_coding		4772		chr8	TogoVar
PDLIM3_chr4_185495660_185540507	185530969	CACACACA others(13): Show CACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp1 HG02976.hp2 HG01109.hp1 HG02451.hp1 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0110 a0001c0002t0006g0142 a0001c0002t0006g0143 a0001c0002t0006g0110 a0001c0002t0006g0142 a0001c0002t0006g0143	3	412	0.0073	-20	c.93+ others(35): Show c.93+4353_93+4372delATGTGTGTGTGTGTGTGTGT	PDLIM3	ENSG00000154553.17	transcript	ENST00000284767.12	protein_coding	1/7			chr4	TogoVar
PDLIM5_chr4_94446942_94673223	94543778	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02615.hp2 HG02976.hp1 others(3): Show HG01167.hp1 HG02615.hp2 HG02976.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0020 a0001c0002t0003 a0001c0001t0005 a0001c0001t0020 a0001c0002t0003	a0001c0001t0005g0003 a0001c0001t0005g0172 a0001c0001t0005g0189 others(3): Show a0001c0001t0005g0003 a0001c0001t0005g0172 a0001c0001t0005g0189 a0001c0001t0005g0198 a0001c0001t0020g0165 a0001c0002t0003g0216	6	218	0.0275	-20	c.248 others(39): Show c.248+19941_248+19960delGTGTGTGTGTGTGTGTGTGT	PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDLIM5_chr4_94446942_94673223	94659484	ATATGTGT others(13): Show ATATGTGTGTATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0039 a0002c0003t0039	a0002c0003t0039g0157 a0002c0003t0039g0157	1	218	0.0046	-20	c.158 others(39): Show c.1585+1939_1585+1958delATGTGTGTATGTGTGTGTGT	PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDLIM7_chr5_177478394_177502604	177486931	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02145.hp1 others(7): Show HG01109.hp1 HG02055.hp1 HG02145.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp2 HG02895.hp1 HG02970.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0011t0001	a0001c0001t0001g0297 a0001c0001t0004g0304 a0001c0002t0001g0014 others(5): Show a0001c0001t0001g0297 a0001c0001t0004g0304 a0001c0002t0001g0014 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0011t0001g0111	10	440	0.0227	-20	c.105 others(39): Show c.1050+1117_1050+1136delAAAAAAAAAAAAAAAAAAAA	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	10/12			chr5	TogoVar
PDLIM7_chr5_177478394_177502604	177490708	GGAAGGGA others(13): Show GGAAGGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0281 a0002c0013t0002g0281	1	440	0.0023	-20	c.572 others(35): Show c.572+142_572+161delTTCCTTCCTTCCTTCCCTTC	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	7/12			chr5	TogoVar
PDLIM7_chr5_177478394_177502604	177490712	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	440	0.0023	-20	c.572 others(35): Show c.572+138_572+157delTTCCTTCCTTCCTTCCTTCC	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	7/12			chr5	TogoVar
PDP2_chr16_66875515_66896101	66887991	GTCCTTCC others(13): Show GTCCTTCCTTCCTTCCTTCCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG01175.hp1 others(19): Show HG00741.hp1 HG01109.hp2 HG01175.hp1 HG01255.hp1 HG01884.hp1 HG01891.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 others(10): Show a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0037 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0057 a0001c0001t0058 a0001c0001t0083 a0001c0001t0084	a0001c0001t0017g0013 a0001c0001t0017g0018 a0001c0001t0017g0029 others(15): Show a0001c0001t0017g0013 a0001c0001t0017g0018 a0001c0001t0017g0029 a0001c0001t0017g0031 a0001c0001t0019g0020 a0001c0001t0019g0032 a0001c0001t0022g0013 a0001c0001t0024g0003 a0001c0001t0024g0019 a0001c0001t0027g0003 a0001c0001t0037g0006 a0001c0001t0049g0003 a0001c0001t0051g0017 a0001c0001t0052g0003 a0001c0001t0057g0012 a0001c0001t0058g0004 a0001c0001t0083g0003 a0001c0001t0084g0003	22	356	0.0618	-20	c.21 others(31): Show c.2166_*2185delTCCTTCCTTCCTTCCTTCCT	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding	2/2	2166	INFO_REALIGN_3_PRIME	chr16	TogoVar
PDP2_chr16_66875515_66896101	66888041	CCTTCCTT others(13): Show CCTTCCTTCCTTCCTTCCTCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0002 a0001c0001t0042g0002	1	356	0.0028	-20	c.21 others(31): Show c.2170_*2189delTCCTTCCTTCCTTCCTCTCT	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding	2/2	2170	INFO_REALIGN_3_PRIME	chr16	TogoVar
PDP2_chr16_66875515_66896101	66893509	GTGTATAT others(13): Show GTGTATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00738.hp2 HG01071.hp2 others(15): Show HG00609.hp1 HG00738.hp2 HG01071.hp2 HG01243.hp1 HG02257.hp1 HG02451.hp1 HG02559.hp2 HG02647.hp2 HG02897.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03471.hp1 HG04184.hp1 NA18747.hp2 NA19056.hp2 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0007 a0001c0001t0019 a0001c0001t0020 others(4): Show a0001c0001t0007 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0054 a0001c0001t0058 a0001c0007t0007	a0001c0001t0007g0004 a0001c0001t0007g0012 a0001c0001t0007g0021 others(9): Show a0001c0001t0007g0004 a0001c0001t0007g0012 a0001c0001t0007g0021 a0001c0001t0007g0033 a0001c0001t0019g0020 a0001c0001t0019g0032 a0001c0001t0020g0004 a0001c0001t0020g0026 a0001c0001t0027g0003 a0001c0001t0054g0004 a0001c0001t0058g0004 a0001c0007t0007g0021	18	356	0.0506	-20	c.76 others(31): Show c.7636_*7655delTGTATATATATATATATATA	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding		2409		chr16	TogoVar
PDS5A_chr4_39817863_39982911	39817880	CTATATAT others(13): Show CTATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0115 a0001c0002t0003g0115	1	356	0.0028	-20	c.75 others(31): Show c.7585_*7604delTATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding		4982		chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842909	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18990.hp1 NA18940.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0027 a0001c0001t0001g0038	2	356	0.0056	-20	c.354 others(37): Show c.3549-873_3549-854delTATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39909040	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19240.hp1 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0104 a0001c0001t0001g0075 a0001c0001t0001g0104	2	356	0.0056	-20	c.108 others(37): Show c.1088-520_1088-501delATTTTATTTTATTTTATTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	10/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39940333	ATGAAGGA others(13): Show ATGAAGGAAGAAGCTTATGAT	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0117 a0001c0002t0003g0117	1	356	0.0028	-20	c.139 others(39): Show c.139-12189_139-12170delATCATAAGCTTCTTCCTTCA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39943123	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG01081.hp2 others(55): Show HG00323.hp2 HG00558.hp1 HG01081.hp2 HG01168.hp2 HG01169.hp2 HG02004.hp2 HG02027.hp2 HG02074.hp1 HG02135.hp2 HG02155.hp2 HG02293.hp1 HG02602.hp2 HG02698.hp1 HG03669.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18952.hp1 NA18954.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA19001.hp1 NA19004.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19070.hp1 NA19074.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0007 others(1): Show a0001c0002 a0001c0006 a0001c0007 a0001c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0023 a0001c0006t0002 a0001c0007t0004 a0001c0008t0004	a0001c0002t0001g0043 a0001c0002t0001g0082 a0001c0002t0001g0083 others(55): Show a0001c0002t0001g0043 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0173 a0001c0002t0004g0313 a0001c0002t0004g0314 a0001c0002t0004g0315 a0001c0002t0004g0316 a0001c0002t0004g0317 a0001c0002t0004g0318 a0001c0002t0004g0319 a0001c0002t0004g0320 a0001c0002t0004g0321 a0001c0002t0004g0322 a0001c0002t0004g0323 a0001c0002t0004g0325 a0001c0002t0004g0326 a0001c0002t0004g0328 a0001c0002t0004g0329 a0001c0002t0004g0331 a0001c0002t0004g0332 a0001c0002t0004g0333 a0001c0002t0004g0334 a0001c0002t0004g0335 a0001c0002t0004g0336 a0001c0002t0004g0337 a0001c0002t0004g0338 a0001c0002t0004g0339 a0001c0002t0004g0340 a0001c0002t0004g0341 a0001c0002t0004g0342 a0001c0002t0004g0343 a0001c0002t0004g0344 a0001c0002t0004g0346 a0001c0002t0004g0348 a0001c0002t0004g0349 a0001c0002t0004g0351 a0001c0002t0004g0352 a0001c0002t0004g0353 a0001c0002t0004g0354 a0001c0002t0004g0355 a0001c0002t0023g0227 a0001c0006t0002g0272 a0001c0007t0004g0330 a0001c0008t0004g0350	58	356	0.1629	-20	c.139 others(39): Show c.139-14979_139-14960delGTGTGTGTGTGTGTGTGTGT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32635170	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0185 a0001c0001t0006g0185	1	334	0.0030	-20	c.-19 others(39): Show c.-19-13558_-19-13539delTTTTTTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDSS2_chr6_107147562_107464564	107336825	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03098.hp1 HG03225.hp1 others(1): Show HG02559.hp1 HG03098.hp1 HG03225.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0006g0103 others(1): Show a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0006g0103 a0001c0001t0006g0104	4	260	0.0154	-20	c.297 others(37): Show c.297-2513_297-2494delACACACACACACACACACAC	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107435281	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	260	0.0039	-20	c.296 others(39): Show c.296+23689_296+23708delGTGTGTGTGTGTGTGTGTGT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDXP_chr22_37653723_37671932	37661917	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01243.hp1 HG01433.hp1 others(22): Show HG01169.hp2 HG01243.hp1 HG01433.hp1 HG02083.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03540.hp2 NA18951.hp1 NA18959.hp2 NA18965.hp2 NA18980.hp2 NA18982.hp2 NA19003.hp2 NA19007.hp1 NA19010.hp2 NA19074.hp1 NA19074.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0078 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0078 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0002g0031 a0001c0001t0002g0066	25	418	0.0598	-20	c.574 others(37): Show c.574+2584_574+2603delTTTTTTTTTTTTTTTTTTTT	PDXP	ENSG00000241360.2	transcript	ENST00000215904.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr22	TogoVar
PDXP_chr22_37653723_37671932	37669429	CTTTTGTT others(13): Show CTTTTGTTTTGTTTTGTTTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02922.hp2 HG02976.hp1 others(1): Show HG02622.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0027 a0001c0001t0007g0065 a0001c0001t0004g0027 a0001c0001t0007g0065	4	418	0.0096	-20	c.35 others(31): Show c.3559_*3578delTTTTGTTTTGTTTTGTTTTG	PDXP	ENSG00000241360.2	transcript	ENST00000215904.7	protein_coding		2498		chr22	TogoVar
PDZD2_chr5_31634131_32115932	31840396	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00597.hp1 others(34): Show HG00099.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp2 HG01071.hp1 HG01243.hp2 HG01361.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG02027.hp2 HG02698.hp2 HG03098.hp2 HG03834.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18962.hp1 NA18962.hp2 NA18968.hp2 NA18979.hp1 NA18986.hp1 NA18989.hp1 NA19005.hp1 NA19009.hp1 NA19057.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0012 a0028 a0033	a0001c0001 a0001c0005 a0001c0062 others(10): Show a0001c0001 a0001c0005 a0001c0062 a0002c0002 a0002c0003 a0002c0012 a0002c0063 a0003c0004 a0003c0008 a0004c0006 a0012c0025 a0028c0054 a0033c0058	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0005t0001 a0001c0005t0003 a0001c0062t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0025 a0002c0003t0002 a0002c0003t0005 a0002c0012t0003 a0002c0063t0002 a0003c0004t0001 a0003c0004t0004 a0003c0004t0005 a0003c0004t0026 a0003c0004t0045 a0003c0008t0012 a0004c0006t0010 a0012c0025t0001 a0028c0054t0009 a0033c0058t0001	a0001c0001t0001g0037 a0001c0001t0001g0081 a0001c0001t0001g0107 others(34): Show a0001c0001t0001g0037 a0001c0001t0001g0081 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0002g0075 a0001c0001t0002g0095 a0001c0001t0002g0117 a0001c0001t0003g0009 a0001c0001t0004g0208 a0001c0001t0005g0010 a0001c0005t0001g0123 a0001c0005t0003g0014 a0001c0062t0003g0029 a0002c0002t0001g0076 a0002c0002t0001g0111 a0002c0002t0003g0026 a0002c0002t0025g0069 a0002c0003t0002g0092 a0002c0003t0005g0016 a0002c0003t0005g0017 a0002c0003t0005g0018 a0002c0012t0003g0011 a0002c0063t0002g0090 a0003c0004t0001g0099 a0003c0004t0001g0129 a0003c0004t0001g0163 a0003c0004t0004g0156 a0003c0004t0005g0031 a0003c0004t0026g0065 a0003c0004t0045g0027 a0003c0008t0012g0020 a0004c0006t0010g0166 a0012c0025t0001g0125 a0028c0054t0009g0039 a0033c0058t0001g0135	37	216	0.1713	-20	c.476 others(39): Show c.476+40706_476+40725delATATATATATATATATATAT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD7_chr10_101002679_101036129	101027679	GATCACAT others(13): Show GATCACATTCTGACTCTTCCC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	432	0.0023	-20	c.226 others(37): Show c.226+2295_226+2314delGGGAAGAGTCAGAATGTGAT	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	2/16			chr10	TogoVar
PDZD8_chr10_117272274_117380440	117305459	TATACACA others(13): Show TATACACACACATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0132 a0001c0002t0042g0132	1	322	0.0031	-20	c.109 others(41): Show c.1098+13393_1098+13412delGTGTGTGTATGTGTGTGTAT	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	3/4			chr10	TogoVar
PDZD8_chr10_117272274_117380440	117305471	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp1 HG02897.hp1 others(1): Show HG02809.hp1 HG02895.hp1 HG02897.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0016 a0001c0002t0016g0017 a0001c0002t0016g0018 others(1): Show a0001c0002t0016g0016 a0001c0002t0016g0017 a0001c0002t0016g0018 a0001c0002t0016g0019	4	322	0.0124	-20	c.109 others(41): Show c.1098+13381_1098+13400delGTGTGTGTGTGTGTGTGTGT	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	3/4			chr10	TogoVar
PDZD8_chr10_117272274_117380440	117357765	CCAAAAAA others(13): Show CCAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18968.hp1 NA19005.hp2 HG00597.hp1 NA18968.hp1 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0011 a0001c0002t0005 a0001c0002t0011	a0001c0002t0005g0020 a0001c0002t0005g0032 a0001c0002t0011g0033 a0001c0002t0005g0020 a0001c0002t0005g0032 a0001c0002t0011g0033	3	322	0.0093	-20	c.872 others(39): Show c.872+16571_872+16590delTTTTTTTTTTTTTTTTTTTG	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4			chr10	TogoVar

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