Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
PDE7B_chr6_135846701_136200574	135909608	CAAATAAA others(8): Show CAAATAAATAAATAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01070.hp2 others(26): Show HG00099.hp1 HG00741.hp2 HG01070.hp2 HG01109.hp1 HG01109.hp2 HG01255.hp2 HG01884.hp1 HG01928.hp1 HG01981.hp2 HG02083.hp2 HG02165.hp1 HG02165.hp2 HG02486.hp1 HG02559.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG04228.hp1 NA18944.hp2 NA18953.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA19060.hp1 NA19060.hp2 NA19087.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0026 a0001c0001t0034 a0001c0002t0010 a0003c0004t0038	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 others(26): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0002g0006 a0001c0001t0003g0042 a0001c0001t0003g0046 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0136 a0001c0001t0008g0043 a0001c0001t0011g0138 a0001c0001t0017g0120 a0001c0001t0026g0119 a0001c0001t0034g0004 a0001c0002t0010g0017 a0003c0004t0038g0039	29	142	0.2042	-15	c.22- others(32): Show c.22-37841_22-37827delTAAATAAATAAATAA	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	135935157	ATGAGACA others(8): Show ATGAGACAGAGAATTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0018 a0001c0001t0015g0018	1	142	0.0070	-15	c.22- others(32): Show c.22-12305_22-12291delGAGACAGAGAATTTT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	135997413	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03540.hp2 HG02965.hp1 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0037 a0003c0004t0013 a0001c0001t0037 a0003c0004t0013	a0001c0001t0037g0040 a0003c0004t0013g0108 a0001c0001t0037g0040 a0003c0004t0013g0108	2	142	0.0141	-15	c.82+ others(32): Show c.82+49913_82+49927delAAAAAAAAAAAAAAA	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE8B_chr5_77205680_77433256	77225872	ACACACAC others(8): Show ACACACACACCCCACG	A A	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp2 HG02148.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0077 a0001c0001t0010g0192 a0001c0001t0002g0077 a0001c0001t0010g0192	2	314	0.0064	-15	c.339 others(34): Show c.339+14615_339+14629delCACCCCACGCACACA	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE8B_chr5_77205680_77433256	77266616	AAGTATTG others(8): Show AAGTATTGATCAGTTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0005 a0001c0001t0034g0005	1	314	0.0032	-15	c.340 others(34): Show c.340-45376_340-45362delGTATTGATCAGTTGA	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE8B_chr5_77205680_77433256	77378456	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp1 HG00738.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0139 a0001c0002t0001g0140	2	314	0.0064	-15	c.116 others(36): Show c.1168-21778_1168-21764delAAAAAAAAAAAAAAA	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42652208	ACTTCAAT others(8): Show ACTTCAATGAGCCGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02280.hp1 HG02486.hp2 others(6): Show HG01109.hp2 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG03130.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0269 a0001c0001t0001g0300 a0001c0001t0001g0307 others(6): Show a0001c0001t0001g0269 a0001c0001t0001g0300 a0001c0001t0001g0307 a0001c0001t0004g0306 a0001c0001t0005g0304 a0001c0002t0001g0242 a0001c0002t0001g0303 a0001c0002t0001g0305 a0001c0002t0001g0308	9	324	0.0278	-15	c.-16 others(26): Show c.-1606_-1592delCTTCAATGAGCCGGG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		1412		chr21	TogoVar
PDE9A_chr21_42648621_42780509	42654069	TGGGGGGT others(8): Show TGGGGGGTGGGGGGTG	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG04228.hp1 HG03669.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0002t0001g0004 a0001c0001t0001g0003 a0001c0002t0001g0004	2	324	0.0062	-15	c.69+ others(28): Show c.69+193_69+207delTGGGGGGTGGGGGGG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726605	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	324	0.0031	-15	c.263 others(32): Show c.263-5164_263-5150delATATATATATATATA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19			chr21	TogoVar
PDGFA_chr7_492258_524846	507797	TGGGCTCA others(8): Show TGGGCTCATGCCAGGG	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0024 a0001c0002t0028g0024	1	302	0.0033	-15	c.453 others(32): Show c.453+2997_453+3011delCCCTGGCATGAGCCC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDGFA_chr7_492258_524846	509348	GTGATGCC others(8): Show GTGATGCCATCACAGC	G G	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0222 a0001c0001t0042g0222	1	302	0.0033	-15	c.453 others(32): Show c.453+1446_453+1460delGCTGTGATGGCATCA	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDGFA_chr7_492258_524846	510767	AGGAGGGG others(8): Show AGGAGGGGAGGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02602.hp2 NA18945.hp2 others(4): Show HG01256.hp1 HG02602.hp2 NA18945.hp2 NA18963.hp2 NA18979.hp1 NA19062.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0001t0022 a0001c0001t0071 others(3): Show a0001c0001t0020 a0001c0001t0022 a0001c0001t0071 a0001c0001t0092 a0001c0001t0094 a0001c0002t0014	a0001c0001t0020g0146 a0001c0001t0020g0156 a0001c0001t0022g0157 others(4): Show a0001c0001t0020g0146 a0001c0001t0020g0156 a0001c0001t0022g0157 a0001c0001t0071g0100 a0001c0001t0092g0151 a0001c0001t0094g0149 a0001c0002t0014g0163	7	302	0.0232	-15	c.453 others(28): Show c.453+27_453+41delCCTCCCCTCCCCTCC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDGFB_chr22_39218359_39249982	39247880	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	386	0.0026	-15	c.-39 others(26): Show c.-3932_-3918delATATATTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2899		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247890	ATATATAT others(8): Show ATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0072 a0001c0001t0008g0072	1	386	0.0026	-15	c.-39 others(26): Show c.-3942_-3928delATATATATATATATA	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2909		chr22	TogoVar
PDGFC_chr4_156755454_156976799	156825551	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03831.hp1 NA18942.hp2 others(6): Show HG03239.hp1 HG03831.hp1 NA18942.hp2 NA18957.hp1 NA18980.hp2 NA18985.hp1 NA19056.hp2 NA19062.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006	a0001c0002t0002g0028 a0001c0002t0002g0051 a0001c0002t0002g0071 others(6): Show a0001c0002t0002g0028 a0001c0002t0002g0051 a0001c0002t0002g0071 a0001c0002t0002g0096 a0001c0002t0002g0139 a0001c0002t0002g0164 a0001c0002t0005g0062 a0001c0002t0005g0063 a0001c0002t0006g0082	9	208	0.0433	-15	c.315 others(34): Show c.315-14549_315-14535delATTATTATTATTATT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825581	TAATAATA others(8): Show TAATAATAATAATAAG	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18964.hp2 HG04184.hp1 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0034 a0001c0002t0002g0167 a0001c0002t0002g0034 a0001c0002t0002g0167	2	208	0.0096	-15	c.315 others(34): Show c.315-14579_315-14565delCTTATTATTATTATT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825584	TAATAATA others(8): Show TAATAATAATAAGAAG	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03486.hp1 NA18961.hp1 others(1): Show HG02683.hp1 HG03486.hp1 NA18961.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0175 a0001c0002t0002g0052 a0001c0002t0002g0061 others(1): Show a0001c0001t0005g0175 a0001c0002t0002g0052 a0001c0002t0002g0061 a0001c0002t0002g0080	4	208	0.0192	-15	c.315 others(34): Show c.315-14582_315-14568delCTTCTTATTATTATT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825587	TAATAATA others(8): Show TAATAATAAGAAGAAG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03492.hp2 NA18522.hp2 others(1): Show HG03139.hp2 HG03492.hp2 NA18522.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0001t0001 a0001c0001t0005 a0001c0002t0002	a0001c0001t0001g0109 a0001c0001t0005g0048 a0001c0002t0002g0068 others(1): Show a0001c0001t0001g0109 a0001c0001t0005g0048 a0001c0002t0002g0068 a0001c0002t0002g0075	4	208	0.0192	-15	c.315 others(34): Show c.315-14585_315-14571delCTTCTTCTTATTATT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825593	TAAGAAGA others(8): Show TAAGAAGAAGAAGAAG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp2 HG02622.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0005 a0001c0001t0012g0181 a0001c0001t0002g0005 a0001c0001t0012g0181	2	208	0.0096	-15	c.315 others(34): Show c.315-14591_315-14577delCTTCTTCTTCTTCTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFD_chr11_103902189_104169147	103955163	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp2 HG01256.hp1 others(29): Show HG00544.hp2 HG00639.hp2 HG01256.hp1 HG02040.hp2 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02602.hp2 HG02630.hp1 HG02717.hp1 HG02735.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 NA18950.hp1 NA18957.hp2 NA18964.hp2 NA18974.hp1 NA18974.hp2 NA18995.hp1 NA19002.hp1 NA19056.hp2 NA19062.hp1 NA19065.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp2 NA19088.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006	a0001c0001t0002g0102 a0001c0001t0003g0019 a0001c0001t0003g0150 others(29): Show a0001c0001t0002g0102 a0001c0001t0003g0019 a0001c0001t0003g0150 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0016 a0001c0002t0001g0022 a0001c0002t0001g0032 a0001c0002t0001g0038 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0058 a0001c0002t0001g0062 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0114 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0144 a0001c0002t0001g0149 a0001c0002t0001g0157 a0001c0002t0001g0161 a0001c0002t0001g0167 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0004g0065 a0001c0002t0005g0025 a0001c0002t0005g0094 a0001c0002t0005g0188 a0001c0002t0006g0088	32	200	0.1600	-15	c.511 others(32): Show c.511-7454_511-7440delTTTTTTTTTTTTTTT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104119462	AATATATT others(8): Show AATATATTGATATAAT	A A	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18985.hp1 NA18957.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0007 a0001c0002t0001g0005 a0001c0001t0003g0007 a0001c0002t0001g0005	2	200	0.0100	-15	c.124 others(34): Show c.124+44327_124+44341delATTATATCAATATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRA_chr4_54224293_54303245	54260397	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	300	0.0033	-15	c.50- others(28): Show c.50-683_50-669delTTTTTTTTTTTTTTT	PDGFRA	ENSG00000134853.12	transcript	ENST00000257290.10	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDGFRA_chr4_54224293_54303245	54261916	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02486.hp2 others(11): Show HG02109.hp1 HG02257.hp1 HG02486.hp2 HG02559.hp1 HG02809.hp1 HG02976.hp1 HG03041.hp1 HG03195.hp1 HG03453.hp1 HG03486.hp1 HG03540.hp1 NA18906.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0009 a0001c0019 others(1): Show a0001c0003 a0001c0009 a0001c0019 a0002c0002	a0001c0003t0005 a0001c0009t0002 a0001c0019t0024 others(1): Show a0001c0003t0005 a0001c0009t0002 a0001c0019t0024 a0002c0002t0002	a0001c0003t0005g0030 a0001c0009t0002g0037 a0001c0009t0002g0038 others(11): Show a0001c0003t0005g0030 a0001c0009t0002g0037 a0001c0009t0002g0038 a0001c0019t0024g0111 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029	14	300	0.0467	-15	c.367 others(30): Show c.367+505_367+519delATATATATATATATA	PDGFRA	ENSG00000134853.12	transcript	ENST00000257290.10	protein_coding	3/22			chr4	TogoVar
PDGFRL_chr8_17572216_17648144	17579544	TTTATTAT others(8): Show TTTATTATTATTGTTA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03540.hp2 NA19240.hp1 HG02280.hp2 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0002t0001g0214 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0002t0001g0214	3	400	0.0075	-15	c.55+ others(30): Show c.55+2249_55+2263delGTTATTATTATTATT	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17609651	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00438.hp1 others(57): Show HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01928.hp2 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02273.hp2 HG02486.hp2 HG02602.hp2 HG02630.hp1 HG02886.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18944.hp1 NA18951.hp1 NA18957.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp2 NA18989.hp2 NA18990.hp1 NA19007.hp1 NA19011.hp2 NA19064.hp1 NA19079.hp1 NA19081.hp1 NA19086.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(57): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0138 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0326 a0001c0001t0001g0372 a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0001g0390 a0001c0001t0001g0392 a0001c0001t0001g0393 a0001c0001t0001g0394 a0001c0001t0003g0329 a0001c0002t0001g0028 a0001c0002t0001g0101 a0001c0002t0001g0122 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0251 a0001c0002t0001g0255 a0001c0002t0001g0296 a0001c0002t0001g0354 a0001c0002t0001g0381 a0001c0002t0001g0387 a0001c0002t0001g0396 a0001c0002t0001g0397 a0001c0002t0006g0165	60	400	0.1500	-15	c.354 others(34): Show c.354-11397_354-11383delAAAAAAAAAAAATAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDIA4_chr7_148998062_149033505	149017658	TAAAATAC others(8): Show TAAAATACATTTTATC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0017 a0001c0020t0017	a0001c0020t0017g0234 a0001c0020t0017g0234	1	352	0.0028	-15	c.475 others(32): Show c.475+1319_475+1333delGATAAAATGTATTTT	PDIA4	ENSG00000155660.11	transcript	ENST00000652332.1	protein_coding	3/9			chr7	TogoVar
PDILT_chr16_20354175_20409737	20364420	TTGTCTTG others(8): Show TTGTCTTGCTACTTAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0029 a0003c0029	a0003c0029t0001 a0003c0029t0001	a0003c0029t0001g0143 a0003c0029t0001g0143	1	406	0.0025	-15	c.123 others(32): Show c.1237+985_1237+999delGTAAGTAGCAAGACA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	9/11			chr16	TogoVar
PDILT_chr16_20354175_20409737	20367009	TTTCTCTC others(8): Show TTTCTCTCTCTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 HG02717.hp2 HG02257.hp2 HG02622.hp1 HG02717.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0305 a0002c0003t0001g0389 a0002c0003t0001g0390 a0002c0003t0001g0305 a0002c0003t0001g0389 a0002c0003t0001g0390	3	406	0.0074	-15	c.111 others(34): Show c.1117-1484_1117-1470delGAAAGAGAGAGAGAA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	8/11			chr16	TogoVar
PDILT_chr16_20354175_20409737	20367027	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18943.hp2 HG04115.hp1 NA18943.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0092 a0005c0008t0001g0270 a0005c0008t0001g0092 a0005c0008t0001g0270	2	406	0.0049	-15	c.111 others(34): Show c.1117-1502_1117-1488delAAAGAAAGAAAGAAA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	8/11			chr16	TogoVar
PDK1_chr2_172551090_172613669	172585316	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0037 a0001c0002t0012g0037	1	342	0.0029	-15	c.946 others(30): Show c.946-949_946-935delTTTTTTTTTTTTTTT	PDK1	ENSG00000152256.14	transcript	ENST00000282077.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
PDK4_chr7_95578499_95601516	95580038	TTTATATA others(8): Show TTTATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	384	0.0026	-15	c.55 others(26): Show c.5588_*5602delTATATATATATATAA	PDK4	ENSG00000004799.8	transcript	ENST00000005178.6	protein_coding		3460		chr7	TogoVar
PDLIM4_chr5_132252696_132278454	132257674	GCGGCGGC others(8): Show GCGGCGGCGGCGGCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG02818.hp1 others(2): Show HG01884.hp1 HG02615.hp1 HG02818.hp1 HG02886.hp2 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0018 a0001c0004t0001g0059 a0001c0004t0001g0018 a0001c0004t0001g0059	5	410	0.0122	-15	c.-60 others(22): Show c.-60_-46delCGGCGGCGGCGGCTC	PDLIM4	ENSG00000131435.13	transcript	ENST00000253754.8	protein_coding		21		chr5	TogoVar
PDLIM5_chr4_94446942_94673223	94527046	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03209.hp2 HG02896.hp2 HG03209.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0002 a0003c0004t0034 a0001c0002t0002 a0003c0004t0034	a0001c0002t0002g0080 a0003c0004t0034g0079 a0001c0002t0002g0080 a0003c0004t0034g0079	2	218	0.0092	-15	c.248 others(32): Show c.248+3185_248+3199delTTTTTTTTTTTTTTT	PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDLIM5_chr4_94446942_94673223	94614287	TGTTTTTT others(8): Show TGTTTTTTTACAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02896.hp1 HG01884.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0183 a0001c0001t0005g0007 a0001c0001t0005g0183	2	218	0.0092	-15	c.921 others(32): Show c.921-3716_921-3702delGTTTTTTTACAGAGA	PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	7/12			chr4	TogoVar
PDLIM7_chr5_177478394_177502604	177482837	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG02717.hp2 others(3): Show HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG03139.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0001c0001t0001 a0001c0002t0001 a0001c0010t0001	a0001c0001t0001g0024 a0001c0001t0001g0057 a0001c0002t0001g0295 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0057 a0001c0002t0001g0295 a0001c0002t0001g0298 a0001c0010t0001g0174	6	440	0.0136	-15	c.79 others(24): Show c.792_*806delAAAAAAAAAAAAAAA	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding		556		chr5	TogoVar
PDP2_chr16_66875515_66896101	66893534	TATATATA others(8): Show TATATATATATGTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03579.hp1 HG03540.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0017 a0001c0001t0025g0017	2	356	0.0056	-15	c.76 others(26): Show c.7661_*7675delATATATATATGTATA	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding		2434		chr16	TogoVar
PDP2_chr16_66875515_66896101	66893541	ATATGTAT others(8): Show ATATGTATATATATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0011 a0001c0001t0009g0011	1	356	0.0028	-15	c.76 others(26): Show c.7668_*7682delTATGTATATATATTT	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding		2441		chr16	TogoVar
PDPR_chr16_70109332_70167537	70119909	TTTGTTTG others(8): Show TTTGTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp1 HG02922.hp1 others(6): Show HG02258.hp2 HG02559.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03139.hp1 HG03516.hp2 HG03579.hp2 NA20129.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0011 a0004c0004t0016 a0004c0004t0058 others(1): Show a0004c0004t0011 a0004c0004t0016 a0004c0004t0058 a0004c0004t0059	a0004c0004t0011g0006 a0004c0004t0011g0021 a0004c0004t0011g0023 others(5): Show a0004c0004t0011g0006 a0004c0004t0011g0021 a0004c0004t0011g0023 a0004c0004t0016g0018 a0004c0004t0016g0020 a0004c0004t0016g0022 a0004c0004t0058g0017 a0004c0004t0059g0019	9	289	0.0311	-15	c.-32 others(30): Show c.-32-549_-32-535delGTTTGTTTGTTTGTT	PDPR	ENSG00000090857.14	transcript	ENST00000288050.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDPR_chr16_70109332_70167537	70148586	ACTTCCCT others(8): Show ACTTCCCTTCCCTTCC	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	289	0.0035	-15	c.205 others(30): Show c.2052+50_2052+64delTTCCCTTCCCTTCCC	PDPR	ENSG00000090857.14	transcript	ENST00000288050.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDS5A_chr4_39817863_39982911	39829950	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00642.hp2 others(36): Show HG00140.hp2 HG00438.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02145.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02735.hp1 HG03017.hp1 HG03130.hp1 HG03492.hp2 HG03654.hp1 HG03831.hp2 HG03834.hp1 HG04204.hp1 NA18942.hp2 NA18999.hp1 NA19009.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0011 a0001c0001t0020 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0020 a0003c0005t0002	a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 others(36): Show a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0011g0301 a0001c0001t0020g0270 a0003c0005t0002g0184 a0003c0005t0002g0273	39	356	0.1096	-15	c.401 others(34): Show c.4011-4477_4011-4463delTTTTTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	32/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39830940	TTTACTTA others(8): Show TTTACTTACAGTTCTG	T T	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0306 a0001c0002t0008g0306	1	356	0.0028	-15	c.401 others(34): Show c.4011-5467_4011-5453delCAGAACTGTAAGTAA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	32/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39909040	AAAAATAA others(8): Show AAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp2 HG03579.hp2 others(1): Show HG02630.hp1 HG02895.hp2 HG03579.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0012 a0001c0001 a0001c0004 a0001c0012	a0001c0001t0002 a0001c0004t0001 a0001c0012t0001 a0001c0001t0002 a0001c0004t0001 a0001c0012t0001	a0001c0001t0002g0244 a0001c0004t0001g0073 a0001c0004t0001g0078 others(1): Show a0001c0001t0002g0244 a0001c0004t0001g0073 a0001c0004t0001g0078 a0001c0012t0001g0060	4	356	0.0112	-15	c.108 others(32): Show c.1088-515_1088-501delATTTTATTTTATTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	10/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39930215	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01168.hp2 HG01169.hp2 others(13): Show HG01081.hp2 HG01168.hp2 HG01169.hp2 HG02004.hp2 HG02027.hp2 HG02135.hp2 HG02602.hp2 HG03209.hp2 NA18945.hp2 NA18964.hp2 NA18972.hp1 NA18979.hp2 NA19074.hp1 NA19091.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0002t0003 a0001c0006t0002 a0001c0002t0002 a0001c0002t0003 a0001c0006t0002	a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 others(13): Show a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0285 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0173 a0001c0006t0002g0272	16	356	0.0449	-15	c.139 others(32): Show c.139-2066_139-2052delTTTTTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32635170	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02717.hp1 others(4): Show HG01884.hp1 HG02109.hp2 HG02717.hp1 HG02976.hp2 HG03130.hp1 NA19009.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0003 a0001c0002t0005 others(1): Show a0001c0001t0016 a0001c0002t0003 a0001c0002t0005 a0001c0002t0032	a0001c0001t0016g0294 a0001c0002t0003g0326 a0001c0002t0003g0330 others(4): Show a0001c0001t0016g0294 a0001c0002t0003g0326 a0001c0002t0003g0330 a0001c0002t0005g0225 a0001c0002t0005g0226 a0001c0002t0005g0227 a0001c0002t0032g0221	7	334	0.0210	-15	c.-19 others(34): Show c.-19-13553_-19-13539delTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32690007	TGAAAAAA others(8): Show TGAAAAAATTACTAAA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	334	0.0030	-15	c.146 others(34): Show c.1469+1442_1469+1456delAAAATTACTAAAGAA	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	13/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDSS1_chr10_26692701_26751798	26737722	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	416	0.0024	-15	c.102 others(34): Show c.1026+2158_1026+2172delAAAAAAAAAAAAAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107336818	GGTGTGTG others(8): Show GGTGTGTGGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	260	0.0039	-15	c.297 others(32): Show c.297-2501_297-2487delACACACACCACACAC	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429898	AAAAATAT others(8): Show AAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0140 a0001c0001t0012g0140	1	260	0.0039	-15	c.296 others(34): Show c.296+29077_296+29091delATATATATATATTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429900	AAATATAT others(8): Show AAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	260	0.0039	-15	c.296 others(34): Show c.296+29075_296+29089delATATATATATATATT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429902	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	260	0.0039	-15	c.296 others(34): Show c.296+29073_296+29087delATATATATATATATA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar

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