Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18984.hp1 HG02145.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0027 a0001c0002t0001g0256 a0001c0001t0003g0027 a0001c0002t0001g0256	2	324	0.0062	20	c.263 others(37): Show c.263-5145_263-5144insATATATATATATTTTTTTTT	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(13): Show ATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	324	0.0031	20	c.263 others(37): Show c.263-5145_263-5144insATATATATTTTTTTTTTTTT	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(13): Show ATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0310 a0001c0002t0001g0310	1	324	0.0031	20	c.263 others(37): Show c.263-5145_263-5144insATATATTTTTTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATTTTT others(13): Show ATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	324	0.0031	20	c.263 others(37): Show c.263-5145_263-5144insATTTTTTTTTTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFA_chr7_492258_524846	494593	A A	AGGGGATC others(13): Show AGGGGATCTGTGAGGGGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03225.hp2 HG03453.hp2 others(2): Show HG03098.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0001t0048 a0001c0001t0061 others(2): Show a0001c0001t0033 a0001c0001t0048 a0001c0001t0061 a0001c0002t0033 a0001c0002t0062	a0001c0001t0033g0154 a0001c0001t0048g0009 a0001c0001t0061g0020 others(2): Show a0001c0001t0033g0154 a0001c0001t0048g0009 a0001c0001t0061g0020 a0001c0002t0033g0171 a0001c0002t0062g0016	5	302	0.0166	20	c.39 others(31): Show c.3970_*3971insCGTCCCCCTCACAGATCCCC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding		2664		chr7	TogoVar
PDGFA_chr7_492258_524846	499720	T T	TCCCCCCC others(13): Show TCCCCCCCCACCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	302	0.0033	20	c.581 others(37): Show c.581-1147_581-1146insGGGGGGGGGGGTGGGGGGGG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	5/5			chr7	TogoVar
PDGFA_chr7_492258_524846	500646	T T	TTTGCTCT others(13): Show TTTGCTCTTTCATGCTCACAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	302	0.0033	20	c.580 others(35): Show c.580+469_580+470insCTGTGAGCATGAAAGAGCAA	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	5/5			chr7	TogoVar
PDGFA_chr7_492258_524846	510722	G G	GGGAGAGG others(13): Show GGGAGAGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG00673.hp1 others(9): Show HG00423.hp1 HG00621.hp1 HG00673.hp1 HG01981.hp1 HG02040.hp2 HG02273.hp2 HG02293.hp2 HG03453.hp2 NA18947.hp1 NA18971.hp2 NA18980.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0060 a0001c0002t0033 others(2): Show a0001c0001t0003 a0001c0001t0060 a0001c0002t0033 a0001c0003t0003 a0001c0003t0015	a0001c0001t0003g0001 a0001c0001t0003g0103 a0001c0001t0003g0104 others(8): Show a0001c0001t0003g0001 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0110 a0001c0001t0003g0118 a0001c0001t0060g0105 a0001c0002t0033g0171 a0001c0003t0003g0108 a0001c0003t0003g0119 a0001c0003t0015g0120	12	302	0.0397	20	c.453 others(33): Show c.453+67_453+86dupTCTCCCCTCCCCTCCTCTCC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDGFA_chr7_492258_524846	510772	G G	GGGAGGGG others(13): Show GGGAGGGGAGAGGAGAGGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02258.hp2 others(4): Show HG01891.hp1 HG02055.hp1 HG02258.hp2 HG02717.hp2 HG03130.hp2 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0001t0057 a0001c0001t0133 others(3): Show a0001c0001t0027 a0001c0001t0057 a0001c0001t0133 a0001c0002t0045 a0001c0002t0082 a0001c0002t0083	a0001c0001t0027g0093 a0001c0001t0027g0094 a0001c0001t0057g0017 others(4): Show a0001c0001t0027g0093 a0001c0001t0027g0094 a0001c0001t0057g0017 a0001c0001t0133g0265 a0001c0002t0045g0008 a0001c0002t0082g0018 a0001c0002t0083g0079	7	302	0.0232	20	c.453 others(33): Show c.453+36_453+37insTCTCCTCTCCTCTCCCCTCC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDGFB_chr22_39218359_39249982	39228893	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA20905.hp1 HG03654.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0172 a0001c0001t0002g0202 a0001c0001t0001g0172 a0001c0001t0002g0202	2	386	0.0052	20	c.601 others(37): Show c.601+1190_601+1191insATATATATATATTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding	5/6			chr22	TogoVar
PDGFC_chr4_156755454_156976799	156824325	T T	TATATATA others(13): Show TATATATACACACATATACAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0090 a0001c0001t0021g0090	1	208	0.0048	20	c.315 others(39): Show c.315-13309_315-13308insGTGTATATGTGTGTATATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156824325	T T	TATATATA others(13): Show TATATATATACACATATACAC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18985.hp1 NA19056.hp2 NA18961.hp1 NA18985.hp1 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0061 a0001c0002t0005g0062 a0001c0002t0005g0063 a0001c0002t0002g0061 a0001c0002t0005g0062 a0001c0002t0005g0063	3	208	0.0144	20	c.315 others(39): Show c.315-13309_315-13308insGTGTATATGTGTATATATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156824327	T T	TATATACA others(13): Show TATATACACATATACACATAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0086 a0001c0002t0002g0086	1	208	0.0048	20	c.315 others(39): Show c.315-13311_315-13310insGTATGTGTATATGTGTATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156851930	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03041.hp1 HG02486.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0128 a0001c0001t0004g0137 a0001c0001t0004g0128 a0001c0001t0004g0137	2	208	0.0096	20	c.119 others(37): Show c.119-1534_119-1515dupTTTTTTTTTTTTTTTTTTTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156960252	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0169 a0001c0002t0002g0169	1	208	0.0048	20	c.118 others(39): Show c.118+10514_118+10533dupTATATATATATATATATATA	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156960256	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp2 HG03139.hp1 others(1): Show HG02622.hp2 HG03098.hp2 HG03139.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0016 a0001c0002t0012 a0001c0001t0012 a0001c0001t0016 a0001c0002t0012	a0001c0001t0012g0181 a0001c0001t0012g0183 a0001c0001t0016g0182 others(1): Show a0001c0001t0012g0181 a0001c0001t0012g0183 a0001c0001t0016g0182 a0001c0002t0012g0180	4	208	0.0192	20	c.118 others(39): Show c.118+10529_118+10530insCATATATATATATATATATA	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFD_chr11_103902189_104169147	103910760	T T	TCCCCTGG others(13): Show TCCCCTGGAAAGGGGCTGAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00621.hp2 others(95): Show HG00323.hp2 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG01256.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02129.hp1 HG02145.hp2 HG02257.hp2 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18950.hp1 NA18953.hp2 NA18957.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18985.hp2 NA18992.hp2 NA18995.hp1 NA19002.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19062.hp1 NA19065.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 others(7): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0002c0003t0006 a0002c0003t0018	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 others(95): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0012 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0066 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0111 a0001c0002t0001g0114 a0001c0002t0001g0121 a0001c0002t0001g0126 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0144 a0001c0002t0001g0149 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0161 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0171 a0001c0002t0001g0179 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0190 a0001c0002t0001g0194 a0001c0002t0004g0026 a0001c0002t0004g0033 a0001c0002t0004g0037 a0001c0002t0004g0046 a0001c0002t0004g0065 a0001c0002t0004g0070 a0001c0002t0004g0072 a0001c0002t0004g0096 a0001c0002t0004g0173 a0001c0002t0004g0174 a0001c0002t0004g0175 a0001c0002t0005g0002 a0001c0002t0005g0025 a0001c0002t0005g0094 a0001c0002t0005g0108 a0001c0002t0005g0180 a0001c0002t0005g0188 a0001c0002t0005g0191 a0001c0002t0006g0088 a0001c0002t0008g0008 a0001c0002t0008g0031 a0001c0002t0008g0103 a0001c0002t0012g0147 a0001c0002t0012g0189 a0001c0002t0013g0069 a0001c0002t0013g0071 a0001c0002t0014g0198 a0001c0002t0014g0200 a0002c0003t0006g0015 a0002c0003t0006g0029 a0002c0003t0006g0182 a0002c0003t0018g0087	98	200	0.4900	20	c.988 others(35): Show c.988-942_988-941insCTTCAGCCCCTTTCCAGGGG	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	6/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	103950571	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00738.hp1 others(44): Show HG00423.hp1 HG00544.hp2 HG00738.hp1 HG00741.hp2 HG01109.hp1 HG01256.hp1 HG01361.hp1 HG01928.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02615.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03209.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18953.hp2 NA18957.hp2 NA18964.hp2 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18992.hp2 NA18995.hp1 NA19002.hp1 NA19012.hp2 NA19068.hp1 NA19077.hp1 NA19079.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0014	a0001c0001t0002g0060 a0001c0001t0002g0143 a0001c0001t0003g0052 others(44): Show a0001c0001t0002g0060 a0001c0001t0002g0143 a0001c0001t0003g0052 a0001c0001t0003g0097 a0001c0001t0003g0112 a0001c0001t0003g0152 a0001c0001t0003g0195 a0001c0001t0009g0154 a0001c0001t0017g0023 a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0016 a0001c0002t0001g0022 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0036 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0091 a0001c0002t0001g0100 a0001c0002t0001g0111 a0001c0002t0001g0114 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0149 a0001c0002t0001g0161 a0001c0002t0001g0171 a0001c0002t0001g0184 a0001c0002t0001g0190 a0001c0002t0001g0194 a0001c0002t0005g0002 a0001c0002t0005g0191 a0001c0002t0008g0103 a0001c0002t0014g0200	47	200	0.2350	20	c.511 others(37): Show c.511-2867_511-2848dupATTTATTTATTTATTTATTT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104082133	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0200 a0001c0002t0014g0200	1	200	0.0050	20	c.124 others(39): Show c.124+81670_124+81671insATATATATATATATATATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104119573	A A	AATATAAT others(13): Show AATATAATATATTGATATAAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0192 a0001c0001t0009g0192	1	200	0.0050	20	c.124 others(39): Show c.124+44211_124+44230dupATTATATCAATATATTATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104137728	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19043.hp1 HG01081.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0127 a0001c0002t0001g0126 a0001c0001t0002g0127 a0001c0002t0001g0126	2	200	0.0100	20	c.124 others(39): Show c.124+26056_124+26075dupAAAAAAAAAAAAAAAAAAAA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104153046	T T	TGCACAAG others(13): Show TGCACAAGCTCCTAAAGCTTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp1 HG02257.hp1 others(1): Show HG01109.hp2 HG01123.hp1 HG02257.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0020 a0001c0002t0001 a0001c0001t0003 a0001c0001t0020 a0001c0002t0001	a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0020g0197 others(1): Show a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0020g0197 a0001c0002t0001g0194	4	200	0.0200	20	c.124 others(39): Show c.124+10738_124+10757dupTAAGCTTTAGGAGCTTGTGC	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRL_chr8_17572216_17648144	17577082	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01993.hp2 HG02273.hp2 others(2): Show HG00323.hp2 HG01993.hp2 HG02273.hp2 HG02451.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0050 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0050 a0001c0002t0001g0003 a0001c0002t0001g0005	5	400	0.0125	20	c.-17 others(29): Show c.-171_-170insAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding		133		chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17638738	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	400	0.0025	20	c.940 others(37): Show c.940-3845_940-3826dupTATATATATATATATATATA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17638776	T T	TATATATA others(13): Show TATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0390 a0001c0001t0001g0390	1	400	0.0025	20	c.940 others(37): Show c.940-3826_940-3825insTATATAAAAATATATATATA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17638776	T T	TATATATA others(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18977.hp2 HG02027.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0395 a0001c0001t0001g0158 a0001c0001t0001g0395	2	400	0.0050	20	c.940 others(37): Show c.940-3826_940-3825insTATATATAAATATATATATA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17638786	T T	TATATATA others(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18963.hp1 HG02486.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0312 a0001c0001t0001g0267 a0001c0001t0001g0312	2	400	0.0050	20	c.940 others(37): Show c.940-3826_940-3825insTATATATATATATATATAAA	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(13): Show TCCCCGCCCCCCCCCCCCACC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG02572.hp2 others(8): Show HG01243.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG03130.hp1 HG03195.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0051 others(8): Show a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0082 a0001c0001t0001g0224 a0001c0002t0001g0045 a0001c0002t0001g0048 a0001c0002t0001g0225 a0001c0002t0001g0236 a0001c0004t0001g0374 a0002c0003t0001g0261	11	400	0.0275	20	c.940 others(35): Show c.940-710_940-709insCCCCCCCCCCACCCCCCGCC	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(13): Show TCCCCGCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0379 a0001c0001t0001g0379	1	400	0.0025	20	c.940 others(35): Show c.940-710_940-709insCCCCCCCCCCCCCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDIA4_chr7_148998062_149033505	149017633	T T	TAAAATTA others(13): Show TAAAATTAAATACATTTTATC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03098.hp1 HG03471.hp2 HG02896.hp1 HG03098.hp1 HG03471.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0015 a0001c0006t0009 a0001c0006t0015	a0001c0006t0009g0045 a0001c0006t0015g0228 a0001c0006t0009g0045 a0001c0006t0015g0228	3	352	0.0085	20	c.475 others(37): Show c.475+1339_475+1358dupGATAAAATGTATTTAATTTT	PDIA4	ENSG00000155660.11	transcript	ENST00000652332.1	protein_coding	3/9			chr7	TogoVar
PDIA4_chr7_148998062_149033505	149017639	T T	TAAATACA others(13): Show TAAATACATTTTATCAAAATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02109.hp1 HG02647.hp2 HG01081.hp1 HG02109.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0059 a0001c0001t0001g0101 a0001c0001t0001g0109	3	352	0.0085	20	c.475 others(37): Show c.475+1333_475+1352dupTATTTTGATAAAATGTATTT	PDIA4	ENSG00000155660.11	transcript	ENST00000652332.1	protein_coding	3/9			chr7	TogoVar
PDIA5_chr3_123062025_123167104	123072912	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01123.hp2 HG01891.hp1 others(1): Show HG00609.hp1 HG01123.hp2 HG01891.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0254 a0001c0001t0001g0298 a0001c0002t0001g0255 others(1): Show a0001c0001t0001g0254 a0001c0001t0001g0298 a0001c0002t0001g0255 a0001c0003t0001g0320	4	332	0.0121	20	c.42+ others(35): Show c.42+5718_42+5737dupGTGTGTGTGTGTGTGTGTGT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDIA5_chr3_123062025_123167104	123117374	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01943.hp2 HG02056.hp1 others(9): Show HG00140.hp2 HG01943.hp2 HG02056.hp1 HG02683.hp2 HG03098.hp1 HG04184.hp1 NA18947.hp2 NA18971.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp2 NA19080.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0006c0017	a0001c0001t0001 a0001c0003t0001 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0011t0001 a0006c0017t0001	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0089 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0089 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0199 a0001c0001t0001g0232 a0001c0003t0001g0147 a0001c0003t0001g0234 a0001c0011t0001g0058 a0006c0017t0001g0223	12	332	0.0361	20	c.609 others(37): Show c.609+1082_609+1101dupATATATATATATATATATAT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDILT_chr16_20354175_20409737	20367024	C C	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	406	0.0025	20	c.111 others(39): Show c.1117-1504_1117-1485dupAGAAAGAAAGAAAGAAAGAA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	8/11			chr16	TogoVar
PDILT_chr16_20354175_20409737	20402290	A A	ATCTTTTC others(13): Show ATCTTTTCTTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03098.hp2 HG04228.hp2 others(13): Show HG01261.hp1 HG03098.hp2 HG04228.hp2 NA18941.hp2 NA18942.hp2 NA18962.hp1 NA18963.hp1 NA18989.hp2 NA18992.hp1 NA19000.hp1 NA19004.hp1 NA19062.hp1 NA19068.hp1 NA19077.hp2 NA19089.hp1 NA19240.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0007 a0001c0009 others(1): Show a0001c0001 a0001c0007 a0001c0009 a0013c0030	a0001c0001t0001 a0001c0007t0001 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0007t0001 a0001c0009t0001 a0013c0030t0001	a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0107 others(13): Show a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0107 a0001c0001t0001g0233 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0274 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0313 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0007t0001g0288 a0001c0009t0001g0350 a0013c0030t0001g0180	16	406	0.0394	20	c.-8+ others(35): Show c.-8+2186_-8+2205dupAAAGAAAAGAAAAGAAAAGA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	1/11			chr16	TogoVar
PDK1_chr2_172551090_172613669	172583281	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0264 a0001c0001t0016g0264	1	342	0.0029	20	c.946 others(37): Show c.946-2985_946-2966dupTTTTTTTTTTTTTTTTTTTT	PDK1	ENSG00000152256.14	transcript	ENST00000282077.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
PDK3_chrX_24460286_24539422	24496568	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03688.hp1 HG03704.hp1 others(7): Show HG01981.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG04204.hp1 NA18946.hp2 NA18956.hp1 NA18977.hp1 NA19080.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0244 a0001c0001t0002g0077 a0001c0001t0002g0088 others(7): Show a0001c0001t0001g0244 a0001c0001t0002g0077 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108	10	258	0.0388	20	c.248 others(37): Show c.248+1689_248+1708dupTTTTTTTTTTTTTTTTTTTT	PDK3	ENSG00000067992.17	transcript	ENST00000379162.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PDK4_chr7_95578499_95601516	95584326	T T	TATCCTTT others(13): Show TATCCTTTCTTTCCTTCCTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG02258.hp2 others(8): Show HG00639.hp1 HG01884.hp2 HG02258.hp2 HG02451.hp1 HG02630.hp1 HG02965.hp1 HG02970.hp1 HG03098.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0033 a0001c0001t0005 a0001c0001t0033	a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0047 others(4): Show a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0005g0110 a0001c0001t0005g0112 a0001c0001t0033g0085	11	384	0.0287	20	c.12 others(31): Show c.1295_*1314dupGCAGGAAGGAAAGAAAGGAT	PDK4	ENSG00000004799.8	transcript	ENST00000005178.6	protein_coding	11/11	1314		chr7	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp2 HG01257.hp2 others(23): Show HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG02055.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp1 HG03834.hp2 NA18942.hp1 NA18949.hp1 NA18969.hp2 NA18993.hp1 NA18998.hp2 NA19010.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19068.hp1 NA19081.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0001c0002t0006 a0002c0003t0003 a0003c0006t0008	a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0075 others(21): Show a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0075 a0001c0001t0001g0137 a0001c0001t0001g0176 a0001c0001t0001g0228 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0252 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0321 a0001c0001t0008g0138 a0001c0002t0002g0145 a0001c0002t0006g0185 a0002c0003t0003g0001 a0002c0003t0003g0041 a0002c0003t0003g0050 a0002c0003t0003g0125 a0002c0003t0003g0126 a0002c0003t0003g0197 a0002c0003t0003g0208 a0002c0003t0003g0296 a0003c0006t0008g0139	26	338	0.0769	20	c.533 others(37): Show c.533+6858_533+6877dupCTTTCTTTCTTTCTTTCTTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM1_chr10_95232572_95296003	95257038	G G	GAAAGAAA others(13): Show GAAAGAAAGAAAGAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01496.hp2 HG00099.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0203 a0001c0001t0005g0014 a0001c0001t0005g0203	2	338	0.0059	20	c.533 others(37): Show c.533+6825_533+6826insATTTTTTTCTTTCTTTCTTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM1_chr10_95232572_95296003	95257038	G G	GAAAGAAA others(13): Show GAAAGAAAGAAAGAAAGAAAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0251 a0001c0002t0002g0251	1	338	0.0030	20	c.533 others(37): Show c.533+6825_533+6826insATTTCTTTCTTTCTTTCTTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM2_chr8_22575475_22599298	22592068	C C	CTTTCTTT others(13): Show CTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0257 a0001c0002t0002g0257	1	380	0.0026	20	c.881 others(35): Show c.881+413_881+414insCTTTTCTTTTCTTTTCTTTT	PDLIM2	ENSG00000120913.24	transcript	ENST00000409417.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDLIM4_chr5_132252696_132278454	132264235	T T	TTCCTTCC others(13): Show TTCCTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0098 a0001c0004t0003g0098	1	410	0.0024	20	c.245 others(37): Show c.245+1476_245+1495dupTCCTTCCTTCCTTCCTTCCC	PDLIM4	ENSG00000131435.13	transcript	ENST00000253754.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDLIM5_chr4_94446942_94673223	94542307	C C	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03486.hp1 NA19089.hp2 HG03471.hp2 HG03486.hp1 NA19089.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0006 a0003c0007 a0006c0010 a0001c0006 a0003c0007 a0006c0010	a0001c0006t0024 a0003c0007t0001 a0006c0010t0009 a0001c0006t0024 a0003c0007t0001 a0006c0010t0009	a0001c0006t0024g0022 a0003c0007t0001g0094 a0006c0010t0009g0202 a0001c0006t0024g0022 a0003c0007t0001g0094 a0006c0010t0009g0202	3	218	0.0138	20	c.248 others(39): Show c.248+18440_248+18459dupTAAATAAATAAATAAATAAA	PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDLIM7_chr5_177478394_177502604	177497008	G G	GGGGGAGG others(13): Show GGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp1 others(38): Show HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00544.hp2 HG00733.hp1 HG01081.hp1 HG01106.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01928.hp2 HG02109.hp2 HG02486.hp2 HG02647.hp1 HG02698.hp1 HG02896.hp2 HG02970.hp2 HG03017.hp2 HG03139.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03710.hp2 HG04184.hp2 HG04228.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18967.hp2 NA18968.hp1 NA18990.hp2 NA19011.hp1 NA19066.hp1 NA19070.hp2 NA19081.hp2 NA19089.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0010t0001 a0002c0003t0001	a0001c0001t0001g0168 a0001c0001t0001g0184 a0001c0001t0001g0312 others(31): Show a0001c0001t0001g0168 a0001c0001t0001g0184 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0335 a0001c0002t0001g0007 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0051 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0002g0052 a0001c0002t0002g0178 a0001c0002t0002g0186 a0001c0010t0001g0174 a0002c0003t0001g0175	41	440	0.0932	20	c.-11 others(35): Show c.-11-486_-11-485insTCCCCTCCCCTCCCCTCCCC	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	1/12			chr5	TogoVar
PDLIM7_chr5_177478394_177502604	177497034	G G	GGGGAGGG others(13): Show GGGGAGGGGAGGGGAGGGAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0218 a0001c0004t0001g0219 a0001c0004t0001g0218 a0001c0004t0001g0219	2	440	0.0046	20	c.-12 others(35): Show c.-12+493_-12+494insTTTCCCTCCCCTCCCCTCCC	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	1/12			chr5	TogoVar
PDP2_chr16_66875515_66896101	66879679	C C	CTCACGTC others(13): Show CTCACGTCTGTAATCCCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0019 a0001c0001t0028g0019	1	356	0.0028	20	c.-10 others(31): Show c.-1016_-1015insTCACGTCTGTAATCCCAGCA	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding		835		chr16	TogoVar
PDPK1_chr16_2533021_2608188	2533430	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG01496.hp1 others(8): Show HG00438.hp1 HG00639.hp1 HG01496.hp1 HG02071.hp1 HG02965.hp2 NA18953.hp1 NA19005.hp1 NA19010.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0001 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0029 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0127 a0001c0001t0005g0112 a0001c0001t0012g0134 a0001c0001t0012g0135	11	184	0.0598	20	c.-46 others(31): Show c.-4683_-4682insTTTTTTTTTTTTTTTTTTTT	PDPK1	ENSG00000140992.19	transcript	ENST00000342085.9	protein_coding		4590		chr16	TogoVar
PDPK1_chr16_2533021_2608188	2598246	T T	TGCGGGGG others(13): Show TGCGGGGGCCGCAGCTTTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp2 HG02717.hp2 HG03579.hp1 others(1): Show HG02258.hp2 HG02717.hp2 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0018 a0001c0003t0038 a0001c0003t0039 a0001c0001t0018 a0001c0003t0038 a0001c0003t0039	a0001c0001t0018g0150 a0001c0001t0018g0179 a0001c0003t0038g0180 others(1): Show a0001c0001t0018g0150 a0001c0001t0018g0179 a0001c0003t0038g0180 a0001c0003t0039g0177	4	184	0.0217	20	c.48 others(29): Show c.481_*500dupCGGGGGCCGCAGCTTTGTGG	PDPK1	ENSG00000140992.19	transcript	ENST00000342085.9	protein_coding	14/14	501	INFO_REALIGN_3_PRIME	chr16	TogoVar
PDPN_chr1_13578832_13622957	13599011	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01517.hp1 HG01952.hp2 HG01261.hp1 HG01517.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0023 a0001c0001t0005 a0001c0001t0023	a0001c0001t0005g0196 a0001c0001t0005g0198 a0001c0001t0023g0193 a0001c0001t0005g0196 a0001c0001t0005g0198 a0001c0001t0023g0193	3	446	0.0067	20	c.68- others(35): Show c.68-8145_68-8144insTTTTTTTTTTTTTTTTTTTT	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar

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