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 haplotype class

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
PDGFB_chr22_39218359_39249982	39243216	ATCTTTCT others(5): Show ATCTTTCTCTCCC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG02647.hp2 others(2): Show HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02976.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0076 a0001c0002t0006g0077 a0001c0002t0006g0078 others(2): Show a0001c0002t0006g0076 a0001c0002t0006g0077 a0001c0002t0006g0078 a0001c0002t0006g0089 a0001c0002t0006g0090	5	386	0.0130	-12	c.63+ others(25): Show c.63+673_63+684delGGGAGAGAAAGA	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding	1/6			chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247863	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01192.hp2 NA18941.hp1 HG01070.hp1 HG01192.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0206 a0001c0001t0001g0002 a0001c0001t0002g0206	3	386	0.0078	-12	c.-39 others(23): Show c.-3912_-3901delTTTTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2882		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247881	AAAAAAAA others(5): Show AAAAAAAAAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 NA18969.hp1 HG02630.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0235 a0001c0001t0001g0002 a0001c0001t0002g0235	2	386	0.0052	-12	c.-39 others(23): Show c.-3930_-3919delATATTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2900		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247885	AAAAAATA others(5): Show AAAAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0236 a0001c0001t0015g0236	1	386	0.0026	-12	c.-39 others(23): Show c.-3934_-3923delATATATATTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2904		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39249777	GCGCACAC others(5): Show GCGCACACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02280.hp1 HG02559.hp2 others(5): Show HG00639.hp2 HG02280.hp1 HG02559.hp2 HG02922.hp1 HG03017.hp1 HG03195.hp2 HG03490.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013	a0001c0001t0002g0023 a0001c0001t0002g0203 a0001c0001t0002g0205 others(3): Show a0001c0001t0002g0023 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0243 a0001c0001t0004g0086 a0001c0001t0013g0085	8	386	0.0207	-12	c.-58 others(23): Show c.-5826_-5815delTGTGTGTGTGCG	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		4796		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39249779	GCACACAC others(5): Show GCACACACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0098 a0001c0001t0013g0098	1	386	0.0026	-12	c.-58 others(23): Show c.-5828_-5817delTGTGTGTGTGTG	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		4798		chr22	TogoVar
PDGFC_chr4_156755454_156976799	156815323	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01169.hp2 HG02280.hp1 HG01069.hp2 HG01169.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0006g0033 a0001c0001t0006g0039 a0001c0002t0002g0169 a0001c0001t0006g0033 a0001c0001t0006g0039 a0001c0002t0002g0169	3	208	0.0144	-12	c.315 others(29): Show c.315-4318_315-4307delGTGTGTGTGTGT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825551	AAATAATA others(5): Show AAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18950.hp2 NA18952.hp2 others(1): Show HG03491.hp2 NA18950.hp2 NA18952.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0066 a0001c0002t0002g0069 others(1): Show a0001c0002t0002g0040 a0001c0002t0002g0066 a0001c0002t0002g0069 a0001c0002t0002g0095	4	208	0.0192	-12	c.315 others(31): Show c.315-14546_315-14535delATTATTATTATT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825584	TAATAATA others(5): Show TAATAATAATAAG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02922.hp1 HG01884.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0108 a0001c0001t0002g0151 a0001c0001t0001g0108 a0001c0001t0002g0151	2	208	0.0096	-12	c.315 others(31): Show c.315-14579_315-14568delCTTATTATTATT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825587	TAATAATA others(5): Show TAATAATAAGAAG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02818.hp1 HG03942.hp2 HG01081.hp2 HG02818.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0025 a0001c0001t0001 a0001c0001t0002 a0001c0002t0025	a0001c0001t0001g0154 a0001c0001t0002g0157 a0001c0002t0025g0081 a0001c0001t0001g0154 a0001c0001t0002g0157 a0001c0002t0025g0081	3	208	0.0144	-12	c.315 others(31): Show c.315-14582_315-14571delCTTCTTATTATT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825590	TAATAAGA others(5): Show TAATAAGAAGAAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03453.hp1 NA18972.hp2 others(1): Show HG01109.hp2 HG03453.hp1 NA18972.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0018 a0001c0001t0001 a0001c0001t0002 a0001c0002t0018	a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0002g0155 others(1): Show a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0002g0155 a0001c0002t0018g0002	4	208	0.0192	-12	c.315 others(31): Show c.315-14585_315-14574delCTTCTTCTTATT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825593	TAAGAAGA others(5): Show TAAGAAGAAGAAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03579.hp2 NA19002.hp1 HG01109.hp1 HG03579.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0078 a0001c0001t0001g0107 a0001c0001t0006g0156 a0001c0001t0001g0078 a0001c0001t0001g0107 a0001c0001t0006g0156	3	208	0.0144	-12	c.315 others(31): Show c.315-14588_315-14577delCTTCTTCTTCTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156826174	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02572.hp1 others(5): Show HG02258.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0093 a0001c0001t0004g0127 a0001c0001t0004g0128 others(5): Show a0001c0001t0004g0093 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0137 a0001c0001t0004g0170 a0001c0001t0004g0176 a0001c0001t0009g0173	8	208	0.0385	-12	c.315 others(31): Show c.315-15169_315-15158delAAAAAAAAAAAA	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156891279	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0165 a0001c0001t0001g0166	2	208	0.0096	-12	c.119 others(31): Show c.119-40875_119-40864delTTTTTTTTTTTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156897350	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0010 a0001c0001t0032g0010	1	208	0.0048	-12	c.119 others(31): Show c.119-46946_119-46935delCACACACACACA	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156945342	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03942.hp2 HG03239.hp1 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0025 a0001c0002t0002 a0001c0002t0025	a0001c0002t0002g0051 a0001c0002t0025g0081 a0001c0002t0002g0051 a0001c0002t0025g0081	2	208	0.0096	-12	c.118 others(31): Show c.118+25432_118+25443delATATATATATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156945381	ATATATAT others(5): Show ATATATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0090 a0001c0001t0021g0090	1	208	0.0048	-12	c.118 others(31): Show c.118+25393_118+25404delATTATATATATA	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156973790	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG00741.hp2 others(62): Show HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01358.hp2 HG01934.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp1 HG02129.hp1 HG02155.hp2 HG02683.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18967.hp2 NA18972.hp1 NA18977.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19066.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0027 a0001c0001t0028 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0025	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0049 others(62): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0101 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0094 a0001c0001t0002g0142 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0006g0033 a0001c0001t0013g0064 a0001c0001t0014g0053 a0001c0001t0014g0054 a0001c0001t0015g0027 a0001c0001t0019g0003 a0001c0001t0027g0133 a0001c0001t0028g0085 a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0050 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0086 a0001c0002t0002g0100 a0001c0002t0002g0115 a0001c0002t0002g0139 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0164 a0001c0002t0005g0062 a0001c0002t0005g0063 a0001c0002t0005g0070 a0001c0002t0006g0038 a0001c0002t0025g0081	65	208	0.3125	-12	c.-28 others(23): Show c.-2899_-2888delACACACACACAC	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding		1992		chr4	TogoVar
PDGFC_chr4_156755454_156976799	156974933	AATATATA others(5): Show AATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 NA21309.hp2 HG02976.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0056 a0001c0001t0023g0013 a0001c0001t0001g0056 a0001c0001t0023g0013	2	208	0.0096	-12	c.-40 others(23): Show c.-4042_-4031delATATATATATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding		3135		chr4	TogoVar
PDGFD_chr11_103902189_104169147	103955163	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01081.hp1 HG03540.hp2 others(1): Show HG01070.hp1 HG01081.hp1 HG03540.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0004	a0001c0001t0002g0141 a0001c0001t0007g0186 a0001c0002t0001g0166 others(1): Show a0001c0001t0002g0141 a0001c0001t0007g0186 a0001c0002t0001g0166 a0001c0002t0004g0173	4	200	0.0200	-12	c.511 others(29): Show c.511-7451_511-7440delTTTTTTTTTTTT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104001473	CCCAAATT others(5): Show CCCAAATTTATAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01256.hp1 others(5): Show HG00639.hp2 HG01109.hp2 HG01256.hp1 HG02451.hp2 HG03540.hp1 HG03540.hp2 NA19240.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0004t0007	a0001c0001t0002g0020 a0001c0001t0003g0196 a0001c0002t0001g0047 others(5): Show a0001c0001t0002g0020 a0001c0001t0003g0196 a0001c0002t0001g0047 a0001c0002t0001g0091 a0001c0002t0001g0167 a0001c0002t0004g0173 a0001c0002t0006g0088 a0001c0004t0007g0092	8	200	0.0400	-12	c.125 others(29): Show c.125-1230_125-1219delTTATAAATTTGG	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104030865	ACTCCCTG others(5): Show ACTCCCTGCACCC	A A	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	200	0.0050	-12	c.125 others(31): Show c.125-30622_125-30611delGGGTGCAGGGAG	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104099636	CAATAATA others(5): Show CAATAATAATAAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03471.hp1 NA19056.hp1 HG02615.hp2 HG03471.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0010 a0001c0002t0001 a0001c0006t0002 a0001c0001t0010 a0001c0002t0001 a0001c0006t0002	a0001c0001t0010g0129 a0001c0002t0001g0001 a0001c0006t0002g0159 a0001c0001t0010g0129 a0001c0002t0001g0001 a0001c0006t0002g0159	3	200	0.0150	-12	c.124 others(31): Show c.124+64156_124+64167delATTATTATTATT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104119468	TTGATATA others(5): Show TTGATATAATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03579.hp2 HG03688.hp2 others(7): Show HG00323.hp1 HG03579.hp2 HG03688.hp2 NA18949.hp2 NA18980.hp2 NA19063.hp2 NA19076.hp1 NA19077.hp2 NA19081.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0002t0001	a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0118 others(7): Show a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0118 a0001c0001t0002g0137 a0001c0001t0003g0074 a0001c0001t0003g0113 a0001c0001t0003g0140 a0001c0001t0016g0117 a0001c0002t0001g0105 a0001c0002t0001g0114	10	200	0.0500	-12	c.124 others(31): Show c.124+44324_124+44335delTATATTATATCA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104131816	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG01256.hp2 others(25): Show HG00323.hp1 HG00408.hp1 HG01256.hp2 HG01891.hp2 HG02040.hp1 HG02109.hp2 HG02145.hp2 HG03579.hp2 HG03688.hp2 HG06807.hp2 NA18949.hp2 NA18964.hp2 NA18970.hp1 NA18979.hp2 NA18980.hp2 NA18995.hp2 NA19030.hp1 NA19030.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0001c0002t0001 a0001c0002t0005	a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0109 others(25): Show a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0132 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0003g0074 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0131 a0001c0001t0003g0140 a0001c0001t0003g0148 a0001c0001t0011g0116 a0001c0001t0016g0117 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0114 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0005g0108 a0001c0002t0005g0188	28	200	0.1400	-12	c.124 others(31): Show c.124+31976_124+31987delCTTTTTTTTTTT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRA_chr4_54224293_54303245	54284553	TGAGAGAG others(5): Show TGAGAGAGAGACA	T T	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0187 a0001c0001t0020g0187	1	300	0.0033	-12	c.232 others(29): Show c.2324-807_2324-796delCAGAGAGAGAGA	PDGFRA	ENSG00000134853.12	transcript	ENST00000257290.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDGFRA_chr4_54224293_54303245	54286319	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0258 a0001c0001t0019g0258	1	300	0.0033	-12	c.256 others(29): Show c.2562+388_2562+399delATTTATTTATTT	PDGFRA	ENSG00000134853.12	transcript	ENST00000257290.10	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDGFRB_chr5_150108839_150160845	150117536	GCGCGCGC others(5): Show GCGCGCGCGCACA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp2 HG03017.hp1 others(1): Show HG02615.hp2 HG02717.hp2 HG03017.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0009 a0001c0004t0003 a0001c0004t0009	a0001c0004t0003g0203 a0001c0004t0009g0010 a0001c0004t0009g0143 a0001c0004t0003g0203 a0001c0004t0009g0010 a0001c0004t0009g0143	4	418	0.0096	-12	c.313 others(27): Show c.3137+70_3137+81delTGTGCGCGCGCG	PDGFRB	ENSG00000113721.14	transcript	ENST00000261799.9	protein_coding	22/22			chr5	TogoVar
PDGFRB_chr5_150108839_150160845	150117540	GCGCGCAC others(5): Show GCGCGCACACACA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0323 a0001c0002t0004g0323	1	418	0.0024	-12	c.313 others(27): Show c.3137+66_3137+77delTGTGTGTGCGCG	PDGFRB	ENSG00000113721.14	transcript	ENST00000261799.9	protein_coding	22/22			chr5	TogoVar
PDGFRB_chr5_150108839_150160845	150139489	CTTACCGG others(5): Show CTTACCGGGGTGT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02055.hp1 HG02055.hp2 others(11): Show HG00735.hp2 HG02055.hp1 HG02055.hp2 HG02280.hp2 HG02559.hp2 HG02630.hp2 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03471.hp2 NA18906.hp2 NA19240.hp1 NA20300.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0006 a0003c0009 a0003c0031 others(1): Show a0002c0006 a0003c0009 a0003c0031 a0007c0030	a0002c0006t0001 a0002c0006t0007 a0003c0009t0013 others(2): Show a0002c0006t0001 a0002c0006t0007 a0003c0009t0013 a0003c0031t0003 a0007c0030t0007	a0002c0006t0001g0082 a0002c0006t0007g0011 a0002c0006t0007g0047 others(9): Show a0002c0006t0001g0082 a0002c0006t0007g0011 a0002c0006t0007g0047 a0002c0006t0007g0048 a0002c0006t0007g0080 a0002c0006t0007g0081 a0003c0009t0013g0013 a0003c0009t0013g0078 a0003c0009t0013g0113 a0003c0009t0013g0173 a0003c0031t0003g0112 a0007c0030t0007g0083	14	418	0.0335	-12	c.-6- others(27): Show c.-6-2448_-6-2437delACACCCCGGTAA	PDGFRB	ENSG00000113721.14	transcript	ENST00000261799.9	protein_coding	1/22			chr5	TogoVar
PDGFRL_chr8_17572216_17648144	17579544	TTTATTAT others(5): Show TTTATTATTATTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG00639.hp1 others(88): Show HG00323.hp2 HG00609.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01358.hp1 HG01496.hp2 HG01891.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18941.hp1 NA18944.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp2 NA18961.hp2 NA18963.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp2 NA18977.hp1 NA18983.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19043.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(87): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0295 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0398 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0251 a0001c0002t0001g0255 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0277 a0001c0002t0001g0280 a0001c0002t0001g0287 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0296 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0301 a0001c0002t0001g0304 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0005g0302 a0001c0004t0001g0249 a0001c0004t0001g0252 a0002c0003t0001g0261 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0001g0276 a0002c0003t0001g0279 a0002c0003t0001g0290 a0002c0003t0001g0293 a0002c0003t0001g0294 a0002c0003t0001g0297	91	400	0.2275	-12	c.55+ others(27): Show c.55+2249_55+2260delGTTATTATTATT	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17592911	TACATGCA others(5): Show TACATGCACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01070.hp1 others(39): Show HG00639.hp2 HG00738.hp2 HG01070.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01496.hp2 HG01934.hp1 HG01993.hp1 HG01993.hp2 HG02109.hp1 HG02280.hp1 HG02293.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18951.hp1 NA18997.hp2 NA19002.hp2 NA19004.hp1 NA20129.hp1 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0014 a0006c0012	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0014t0001 a0006c0012t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(39): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0047 a0001c0001t0001g0089 a0001c0001t0001g0171 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0265 a0001c0001t0001g0313 a0001c0002t0001g0004 a0001c0002t0001g0045 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0101 a0001c0002t0001g0119 a0001c0002t0001g0184 a0001c0002t0001g0187 a0001c0002t0001g0198 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0225 a0001c0002t0001g0251 a0001c0004t0001g0226 a0001c0004t0001g0252 a0001c0004t0001g0366 a0001c0014t0001g0021 a0006c0012t0001g0197	42	400	0.1050	-12	c.353 others(29): Show c.353+3150_353+3161delTGCACACACACA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17616169	ATTATTTA others(5): Show ATTATTTATTTAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01109.hp1 others(3): Show HG00639.hp1 HG00735.hp1 HG01109.hp1 HG02004.hp2 HG02922.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0317 a0001c0001t0001g0376 a0001c0002t0001g0061 others(3): Show a0001c0001t0001g0317 a0001c0001t0001g0376 a0001c0002t0001g0061 a0001c0002t0001g0104 a0001c0002t0001g0291 a0001c0002t0001g0292	6	400	0.0150	-12	c.354 others(29): Show c.354-4851_354-4840delATTTATTTATTT	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17638738	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02080.hp2 HG01993.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0007 a0001c0013t0001g0031 a0001c0001t0001g0007 a0001c0013t0001g0031	2	400	0.0050	-12	c.940 others(29): Show c.940-3837_940-3826delTATATATATATA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDHA1_chrX_19338927_19366718	19345572	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	247	0.0041	-12	c.57+ others(27): Show c.57+1497_57+1508delAAAAAAAAAAAA	PDHA1	ENSG00000131828.14	transcript	ENST00000422285.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PDHA1_chrX_19338927_19366718	19366006	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02717.hp1 HG02723.hp1 others(3): Show HG01106.hp1 HG02717.hp1 HG02723.hp1 HG03540.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0011 a0001c0002t0002 a0001c0002t0011	a0001c0002t0002g0040 a0001c0002t0002g0046 a0001c0002t0002g0052 others(3): Show a0001c0002t0002g0040 a0001c0002t0002g0046 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0070 a0001c0002t0011g0053	6	247	0.0243	-12	c.63 others(23): Show c.6354_*6365delAAAAAAAAAAAA	PDHA1	ENSG00000131828.14	transcript	ENST00000422285.7	protein_coding		4289		chrX	TogoVar
PDHX_chr11_34911618_35001128	34931812	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG00673.hp2 others(63): Show HG00423.hp1 HG00673.hp1 HG00673.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01257.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG02015.hp2 HG02055.hp1 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03654.hp1 HG03710.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18940.hp1 NA18962.hp2 NA18964.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19064.hp2 NA19072.hp1 NA19078.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0008 a0002 a0008	a0002c0003 a0002c0004 a0002c0005 others(4): Show a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0012 a0008c0015	a0002c0003t0003 a0002c0003t0010 a0002c0004t0004 others(6): Show a0002c0003t0003 a0002c0003t0010 a0002c0004t0004 a0002c0004t0005 a0002c0005t0005 a0002c0007t0004 a0002c0008t0006 a0002c0012t0003 a0008c0015t0004	a0002c0003t0003g0023 a0002c0003t0003g0024 a0002c0003t0003g0025 others(54): Show a0002c0003t0003g0023 a0002c0003t0003g0024 a0002c0003t0003g0025 a0002c0003t0003g0245 a0002c0003t0003g0246 a0002c0003t0003g0248 a0002c0003t0003g0249 a0002c0003t0003g0250 a0002c0003t0003g0252 a0002c0003t0003g0253 a0002c0003t0003g0255 a0002c0003t0003g0256 a0002c0003t0003g0257 a0002c0003t0003g0258 a0002c0003t0003g0259 a0002c0003t0003g0260 a0002c0003t0003g0261 a0002c0003t0003g0262 a0002c0003t0010g0241 a0002c0003t0010g0251 a0002c0003t0010g0254 a0002c0004t0004g0222 a0002c0004t0004g0224 a0002c0004t0004g0232 a0002c0004t0004g0233 a0002c0004t0004g0234 a0002c0004t0004g0235 a0002c0004t0004g0236 a0002c0004t0004g0237 a0002c0004t0004g0238 a0002c0004t0004g0239 a0002c0004t0004g0240 a0002c0004t0004g0265 a0002c0004t0004g0266 a0002c0004t0005g0007 a0002c0005t0005g0007 a0002c0005t0005g0008 a0002c0005t0005g0026 a0002c0005t0005g0027 a0002c0005t0005g0263 a0002c0005t0005g0267 a0002c0005t0005g0268 a0002c0005t0005g0269 a0002c0007t0004g0022 a0002c0007t0004g0223 a0002c0007t0004g0226 a0002c0007t0004g0228 a0002c0007t0004g0229 a0002c0007t0004g0230 a0002c0007t0004g0231 a0002c0008t0006g0273 a0002c0008t0006g0274 a0002c0012t0003g0242 a0002c0012t0003g0243 a0002c0012t0003g0264 a0008c0015t0004g0225 a0008c0015t0004g0227	66	314	0.2102	-12	c.241 others(27): Show c.241+356_241+367delGTGTGTGTGTGT	PDHX	ENSG00000110435.13	transcript	ENST00000227868.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDIA2_chr16_278164_292215	285925	TCCCAACC others(5): Show TCCCAACCCCAAC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	436	0.0023	-12	c.111 others(29): Show c.1119+244_1119+255delAACCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA5_chr3_123062025_123167104	123151734	TCCTGCCT others(5): Show TCCTGCCTGCCTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG00673.hp2 others(43): Show HG00140.hp1 HG00597.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG02056.hp1 HG02071.hp2 HG02135.hp1 HG02451.hp2 HG02886.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03486.hp1 HG03490.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG04199.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18962.hp1 NA18971.hp1 NA18972.hp2 NA18983.hp1 NA18986.hp1 NA18997.hp2 NA19056.hp2 NA19058.hp1 NA19063.hp2 NA19067.hp2 NA19074.hp1 NA19080.hp1 NA19091.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0003c0010 a0005c0012 a0008c0015	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0003c0010t0001 a0005c0012t0001 a0008c0015t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0021 others(41): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0276 a0001c0003t0001g0027 a0001c0003t0001g0051 a0001c0003t0001g0071 a0001c0003t0001g0077 a0001c0003t0001g0086 a0001c0003t0001g0091 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0137 a0001c0003t0001g0147 a0001c0003t0001g0231 a0001c0003t0001g0306 a0001c0003t0001g0314 a0001c0005t0001g0145 a0001c0005t0001g0173 a0003c0010t0001g0244 a0005c0012t0001g0049 a0005c0012t0001g0050 a0008c0015t0001g0220	46	332	0.1386	-12	c.127 others(31): Show c.1273+1407_1273+1418delCCTGCCTGCCTG	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDIA6_chr2_10778391_10817785	10782829	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02723.hp1 HG03098.hp2 others(4): Show HG02559.hp1 HG02723.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03579.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0010 a0001c0004t0002 a0001c0004t0010	a0001c0004t0002g0259 a0001c0004t0002g0261 a0001c0004t0002g0263 others(4): Show a0001c0004t0002g0259 a0001c0004t0002g0261 a0001c0004t0002g0263 a0001c0004t0002g0265 a0001c0004t0002g0266 a0001c0004t0010g0260 a0001c0004t0010g0267	7	342	0.0205	-12	c.14 others(23): Show c.1417_*1428delTTTTTTTTTTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding		561		chr2	TogoVar
PDIK1L_chr1_26106824_26130555	26117031	TTTTTTTT others(5): Show TTTTTTTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG01070.hp2 others(25): Show HG00642.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01123.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01884.hp1 HG02015.hp1 HG02055.hp2 HG02258.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03225.hp2 HG03540.hp2 HG03704.hp1 HG04199.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 others(3): Show a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0024 a0001c0002t0025	a0001c0002t0004g0010 a0001c0002t0004g0020 a0001c0002t0004g0039 others(8): Show a0001c0002t0004g0010 a0001c0002t0004g0020 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0042 a0001c0002t0006g0009 a0001c0002t0009g0029 a0001c0002t0010g0010 a0001c0002t0010g0020 a0001c0002t0024g0009 a0001c0002t0025g0010	28	350	0.0800	-12	c.285 others(29): Show c.285+2445_285+2456delTTTTTCTTTTTT	PDIK1L	ENSG00000175087.10	transcript	ENST00000374269.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDILT_chr16_20354175_20409737	20363469	ATGTGTAT others(5): Show ATGTGTATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp2 HG02723.hp2 others(4): Show HG01109.hp2 HG02280.hp2 HG02723.hp2 HG02922.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp2	a0003 a0004 a0003 a0004	a0003c0002 a0004c0006 a0003c0002 a0004c0006	a0003c0002t0001 a0004c0006t0001 a0003c0002t0001 a0004c0006t0001	a0003c0002t0001g0157 a0003c0002t0001g0160 a0003c0002t0001g0162 others(4): Show a0003c0002t0001g0157 a0003c0002t0001g0160 a0003c0002t0001g0162 a0003c0002t0001g0163 a0004c0006t0001g0056 a0004c0006t0001g0139 a0004c0006t0001g0337	7	406	0.0172	-12	c.123 others(29): Show c.1238-899_1238-888delCACACATACACA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	9/11			chr16	TogoVar
PDILT_chr16_20354175_20409737	20365816	CTCACGCC others(5): Show CTCACGCCTATAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp2 HG01975.hp1 others(19): Show HG01109.hp2 HG01255.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02055.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp1 NA19240.hp2	a0003 a0004 a0006 others(1): Show a0003 a0004 a0006 a0011	a0003c0002 a0004c0006 a0006c0010 others(1): Show a0003c0002 a0004c0006 a0006c0010 a0011c0013	a0003c0002t0001 a0004c0006t0001 a0006c0010t0001 others(3): Show a0003c0002t0001 a0004c0006t0001 a0006c0010t0001 a0006c0010t0002 a0011c0013t0001 a0011c0013t0002	a0003c0002t0001g0068 a0003c0002t0001g0069 a0003c0002t0001g0106 others(19): Show a0003c0002t0001g0068 a0003c0002t0001g0069 a0003c0002t0001g0106 a0003c0002t0001g0157 a0003c0002t0001g0160 a0003c0002t0001g0162 a0003c0002t0001g0163 a0003c0002t0001g0251 a0003c0002t0001g0279 a0003c0002t0001g0306 a0003c0002t0001g0314 a0004c0006t0001g0056 a0004c0006t0001g0083 a0004c0006t0001g0139 a0004c0006t0001g0337 a0004c0006t0001g0391 a0006c0010t0001g0155 a0006c0010t0001g0159 a0006c0010t0001g0388 a0006c0010t0002g0011 a0011c0013t0001g0126 a0011c0013t0002g0021	22	406	0.0542	-12	c.111 others(29): Show c.1117-288_1117-277delTTATAGGCGTGA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	8/11			chr16	TogoVar
PDILT_chr16_20354175_20409737	20366936	TTTCCTTC others(5): Show TTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01081.hp2 HG01109.hp1 others(42): Show HG00673.hp2 HG01081.hp2 HG01109.hp1 HG01175.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02258.hp2 HG02300.hp1 HG02572.hp2 HG02683.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03688.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp1 NA18945.hp1 NA18949.hp2 NA18966.hp2 NA18981.hp2 NA18986.hp1 NA18989.hp2 NA18992.hp2 NA19007.hp1 NA19030.hp1 NA19072.hp1 NA20129.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0010 a0019	a0001c0001 a0001c0007 a0002c0004 others(5): Show a0001c0001 a0001c0007 a0002c0004 a0002c0021 a0003c0002 a0004c0006 a0010c0014 a0019c0032	a0001c0001t0001 a0001c0007t0001 a0001c0007t0004 others(8): Show a0001c0001t0001 a0001c0007t0001 a0001c0007t0004 a0002c0004t0001 a0002c0004t0002 a0002c0021t0001 a0003c0002t0001 a0003c0002t0002 a0004c0006t0003 a0010c0014t0001 a0019c0032t0001	a0001c0001t0001g0392 a0001c0007t0001g0003 a0001c0007t0001g0004 others(40): Show a0001c0001t0001g0392 a0001c0007t0001g0003 a0001c0007t0001g0004 a0001c0007t0001g0025 a0001c0007t0001g0027 a0001c0007t0001g0028 a0001c0007t0001g0032 a0001c0007t0001g0062 a0001c0007t0001g0119 a0001c0007t0001g0229 a0001c0007t0001g0288 a0001c0007t0001g0304 a0001c0007t0004g0397 a0002c0004t0001g0058 a0002c0004t0001g0116 a0002c0004t0001g0140 a0002c0004t0001g0141 a0002c0004t0001g0146 a0002c0004t0001g0187 a0002c0004t0001g0188 a0002c0004t0001g0189 a0002c0004t0001g0190 a0002c0004t0001g0231 a0002c0004t0001g0273 a0002c0004t0001g0289 a0002c0004t0001g0299 a0002c0004t0001g0300 a0002c0004t0001g0303 a0002c0004t0001g0312 a0002c0004t0001g0340 a0002c0004t0002g0022 a0002c0021t0001g0301 a0003c0002t0001g0106 a0003c0002t0002g0012 a0003c0002t0002g0013 a0004c0006t0003g0098 a0004c0006t0003g0100 a0004c0006t0003g0101 a0004c0006t0003g0102 a0004c0006t0003g0232 a0010c0014t0001g0117 a0010c0014t0001g0227 a0019c0032t0001g0255	45	406	0.1108	-12	c.111 others(31): Show c.1117-1408_1117-1397delGGAAGGAAGGAA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	8/11			chr16	TogoVar
PDILT_chr16_20354175_20409737	20367024	CTTCTTTC others(5): Show CTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00642.hp2 others(33): Show HG00099.hp1 HG00597.hp1 HG00642.hp2 HG01070.hp2 HG01071.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01496.hp2 HG01884.hp2 HG02293.hp1 HG02698.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG03139.hp1 HG03486.hp1 HG03490.hp1 HG03654.hp2 HG04204.hp1 NA18522.hp1 NA18942.hp1 NA18945.hp1 NA18970.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18986.hp1 NA19007.hp1 NA19067.hp2 NA19068.hp2 NA19072.hp1 NA19080.hp1 NA20129.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0011	a0001c0001 a0001c0007 a0002c0003 others(7): Show a0001c0001 a0001c0007 a0002c0003 a0002c0004 a0002c0005 a0003c0002 a0004c0006 a0006c0010 a0007c0011 a0011c0013	a0001c0001t0001 a0001c0007t0001 a0001c0007t0004 others(10): Show a0001c0001t0001 a0001c0007t0001 a0001c0007t0004 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0003c0002t0001 a0004c0006t0003 a0006c0010t0001 a0007c0011t0001 a0011c0013t0001	a0001c0001t0001g0154 a0001c0001t0001g0213 a0001c0001t0001g0221 others(32): Show a0001c0001t0001g0154 a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0001g0230 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0378 a0001c0001t0001g0387 a0001c0007t0001g0003 a0001c0007t0001g0304 a0001c0007t0004g0397 a0002c0003t0001g0050 a0002c0003t0001g0053 a0002c0003t0001g0148 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0002g0018 a0002c0004t0001g0030 a0002c0004t0001g0188 a0002c0004t0001g0190 a0002c0004t0001g0273 a0002c0004t0001g0299 a0002c0004t0001g0300 a0002c0004t0001g0340 a0002c0004t0002g0022 a0002c0005t0001g0223 a0002c0005t0001g0295 a0003c0002t0001g0085 a0003c0002t0001g0166 a0003c0002t0001g0196 a0004c0006t0003g0098 a0006c0010t0001g0159 a0006c0010t0001g0388 a0007c0011t0001g0293 a0011c0013t0001g0126	36	406	0.0887	-12	c.111 others(31): Show c.1117-1496_1117-1485delAGAAAGAAAGAA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	8/11			chr16	TogoVar
PDILT_chr16_20354175_20409737	20367094	TCTTTCTT others(5): Show TCTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0115 a0003c0002t0001g0115	1	406	0.0025	-12	c.111 others(31): Show c.1117-1566_1117-1555delGAAGAAAGAAAG	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	8/11			chr16	TogoVar
PDILT_chr16_20354175_20409737	20377619	AGGAGGAC others(5): Show AGGAGGACTTCCT	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0356 a0001c0001t0001g0356	1	406	0.0025	-12	c.410 others(29): Show c.410-1430_410-1419delAGGAAGTCCTCC	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	3/11			chr16	TogoVar
PDILT_chr16_20354175_20409737	20400012	CTCTATCT others(5): Show CTCTATCTATCTA	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0219 a0003c0002t0001g0219	1	406	0.0025	-12	c.-7- others(25): Show c.-7-717_-7-706delTAGATAGATAGA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	1/11			chr16	TogoVar
PDILT_chr16_20354175_20409737	20400046	CTATCTAT others(5): Show CTATCTATCTATA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp2 HG03453.hp1 HG02280.hp2 HG02572.hp2 HG03453.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0002c0017 a0004c0006 a0002c0004 a0002c0017 a0004c0006	a0002c0004t0001 a0002c0017t0001 a0004c0006t0001 a0002c0004t0001 a0002c0017t0001 a0004c0006t0001	a0002c0004t0001g0140 a0002c0017t0001g0138 a0004c0006t0001g0139 a0002c0004t0001g0140 a0002c0017t0001g0138 a0004c0006t0001g0139	3	406	0.0074	-12	c.-7- others(25): Show c.-7-751_-7-740delTATAGATAGATA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	1/11			chr16	TogoVar
PDILT_chr16_20354175_20409737	20400054	CTATATAT others(5): Show CTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02258.hp2 NA18942.hp1 others(3): Show HG00597.hp1 HG02258.hp2 NA18942.hp1 NA18949.hp2 NA18981.hp2 NA20300.hp2	a0002 a0020 a0002 a0020	a0002c0004 a0002c0005 a0020c0020 a0002c0004 a0002c0005 a0020c0020	a0002c0004t0001 a0002c0005t0001 a0020c0020t0002 a0002c0004t0001 a0002c0005t0001 a0020c0020t0002	a0002c0004t0001g0189 a0002c0004t0001g0190 a0002c0004t0001g0303 others(3): Show a0002c0004t0001g0189 a0002c0004t0001g0190 a0002c0004t0001g0303 a0002c0004t0001g0340 a0002c0005t0001g0223 a0020c0020t0002g0015	6	406	0.0148	-12	c.-7- others(25): Show c.-7-759_-7-748delTATATATATATA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	1/11			chr16	TogoVar

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