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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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
PAH_chr12_102831889_102922244	102871938	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19030.hp1 HG01109.hp1 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0004 a0005c0017 a0001c0004 a0005c0017	a0001c0004t0001 a0005c0017t0001 a0001c0004t0001 a0005c0017t0001	a0001c0004t0001g0144 a0005c0017t0001g0142 a0001c0004t0001g0144 a0005c0017t0001g0142	2	312	0.0064	-29	c.442 others(46): Show c.442-5304_442-5276delATATATATATATATATATTTTTTTTTTT T	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PALLD_chr4_168492052_168933441	168709612	GAAGGAAG others(22): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0006 a0003c0013t0006	a0003c0013t0006g0121 a0003c0013t0006g0121	1	156	0.0064	-29	c.162 others(46): Show c.1621+467_1621+495delAGGAAGGAAGGAAGGAAGGAAGGAAGGA A	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALMD_chr1_99641113_99699535	99652711	AAAAGAAA others(22): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18998.hp1 HG03540.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0265 a0001c0001t0001g0266	2	380	0.0053	-29	c.45+ others(44): Show c.45+6358_45+6386delGAAAAGAAAAGAAAAGAAAAGAAAGAAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PANK4_chr1_2503537_2531596	2530936	TGGAGCCC others(22): Show TGGAGCCCGGCACCCGGCAGCTCTCCCCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG00738.hp1 others(10): Show HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01978.hp2 HG02109.hp2 HG03490.hp2 HG03492.hp2 HG03710.hp1 NA20805.hp1	a0002 a0002	a0002c0004 a0002c0009 a0002c0004 a0002c0009	a0002c0004t0001 a0002c0009t0001 a0002c0004t0001 a0002c0009t0001	a0002c0004t0001g0010 a0002c0004t0001g0145 a0002c0004t0001g0146 others(6): Show a0002c0004t0001g0010 a0002c0004t0001g0145 a0002c0004t0001g0146 a0002c0004t0001g0149 a0002c0004t0001g0150 a0002c0004t0001g0154 a0002c0004t0001g0155 a0002c0004t0001g0156 a0002c0009t0001g0021	13	399	0.0326	-29	c.-43 others(40): Show c.-4378_-4350delGCGGGGAGAGCTGCCGGGTGCCGGGCTCC	PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding		4341		chr1	TogoVar
PAQR5_chr15_69293912_69412780	69300638	TTTCTTTC others(22): Show TTTCTTTCTTTCTTTTCTTTCTTTCTTTCA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG01346.hp1 others(12): Show HG00423.hp1 HG00621.hp1 HG01346.hp1 HG01433.hp2 HG01928.hp2 HG02071.hp1 HG02109.hp2 HG02602.hp1 HG02738.hp1 NA18961.hp2 NA18970.hp2 NA18973.hp1 NA19009.hp2 NA19064.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0003t0003	a0001c0001t0001g0043 a0001c0001t0001g0099 a0001c0001t0001g0100 others(12): Show a0001c0001t0001g0043 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0003g0131 a0001c0001t0016g0109 a0001c0003t0003g0106	15	284	0.0528	-29	c.-27 others(48): Show c.-277+1591_-277+1619delTTCTTTTCTTTCTTTCTTTCATTCTT TCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69383357	GTGGGCCT others(22): Show GTGGGCCTTTGTGTACATGGTGGAGGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	284	0.0035	-29	c.180 others(46): Show c.180-1319_180-1291delTGGGCCTTTGTGTACATGGTGGAGGGTG A	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8			chr15	TogoVar
PARD3B_chr2_204540475_205625162	204763421	TAAATAAA others(22): Show TAAATAAATTAGCTTCCTGGCTGGATTAGC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0012 a0007c0017t0012	a0007c0017t0012g0006 a0007c0017t0012g0006	1	54	0.0185	-29	c.222 others(48): Show c.222+77143_222+77171delTAAATTAGCTTCCTGGCTGGATTAGC AAA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205037279	TATATATA others(22): Show TATATATATATAGTGGACTATTTGTATAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG01884.hp1 HG02055.hp2	a0001 a0003 a0001 a0003	a0001c0016 a0003c0005 a0001c0016 a0003c0005	a0001c0016t0002 a0003c0005t0001 a0001c0016t0002 a0003c0005t0001	a0001c0016t0002g0037 a0003c0005t0001g0010 a0001c0016t0002g0037 a0003c0005t0001g0010	2	54	0.0370	-29	c.395 others(48): Show c.395-10292_395-10264delTAGTGGACTATTTGTATAAAATATAT ATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205057447	TACATATA others(22): Show TACATATATACATGTATATGTGTTATATAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0028 a0001c0008t0004g0028	1	54	0.0185	-29	c.504 others(46): Show c.504+9759_504+9787delCATATATACATGTATATGTGTTATATAC A	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205330006	TAAATAAA others(22): Show TAAATAAATAAATAAATAAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01109.hp1 HG01109.hp2 others(37): Show HG00609.hp1 HG01109.hp1 HG01109.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0002 a0001c0004 a0001c0006 others(22): Show a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0016 a0001c0021 a0001c0022 a0002c0001 a0002c0003 a0003c0005 a0003c0009 a0003c0010 a0003c0018 a0004c0011 a0004c0012 a0004c0020 a0004c0026 a0005c0013 a0006c0014 a0007c0017 a0007c0028 a0008c0007 a0009c0025 a0010c0027 a0011c0024	a0001c0002t0001 a0001c0002t0004 a0001c0004t0002 others(35): Show a0001c0002t0001 a0001c0002t0004 a0001c0004t0002 a0001c0004t0014 a0001c0004t0021 a0001c0006t0007 a0001c0008t0004 a0001c0016t0002 a0001c0021t0001 a0001c0022t0018 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0003t0001 a0002c0003t0003 a0002c0003t0008 a0002c0003t0016 a0003c0005t0001 a0003c0005t0005 a0003c0009t0002 a0003c0009t0009 a0003c0010t0006 a0003c0010t0019 a0003c0018t0002 a0004c0011t0003 a0004c0012t0003 a0004c0020t0020 a0004c0026t0004 a0005c0013t0001 a0005c0013t0003 a0006c0014t0001 a0006c0014t0011 a0007c0017t0012 a0007c0028t0003 a0008c0007t0005 a0009c0025t0022 a0010c0027t0015 a0011c0024t0003	a0001c0002t0001g0008 a0001c0002t0004g0029 a0001c0004t0002g0035 others(37): Show a0001c0002t0001g0008 a0001c0002t0004g0029 a0001c0004t0002g0035 a0001c0004t0014g0016 a0001c0004t0021g0051 a0001c0006t0007g0013 a0001c0008t0004g0028 a0001c0016t0002g0037 a0001c0021t0001g0012 a0001c0022t0018g0020 a0002c0001t0001g0053 a0002c0001t0002g0033 a0002c0001t0004g0017 a0002c0003t0001g0031 a0002c0003t0003g0047 a0002c0003t0008g0049 a0002c0003t0016g0046 a0003c0005t0001g0010 a0003c0005t0001g0025 a0003c0005t0005g0045 a0003c0009t0002g0034 a0003c0009t0009g0039 a0003c0010t0006g0021 a0003c0010t0019g0030 a0003c0018t0002g0038 a0004c0011t0003g0043 a0004c0012t0003g0004 a0004c0012t0003g0048 a0004c0020t0020g0032 a0004c0026t0004g0041 a0005c0013t0001g0001 a0005c0013t0003g0002 a0006c0014t0001g0011 a0006c0014t0011g0023 a0007c0017t0012g0006 a0007c0028t0003g0007 a0008c0007t0005g0040 a0009c0025t0022g0009 a0010c0027t0015g0003 a0011c0024t0003g0014	40	54	0.7407	-29	c.263 others(50): Show c.2630+28313_2630+28341delTAAATAAATAAATAAATAAATAAA ATAAA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205381041	AATATATA others(22): Show AATATATATTATATATAAAGAATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0031 a0002c0003t0001g0031	1	54	0.0185	-29	c.263 others(50): Show c.2631-19944_2631-19916delTTATATATATTATATATAAAGAAT ATATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARN_chr16_14430701_14635260	14451843	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAATACAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00438.hp2 others(28): Show HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00673.hp2 HG00735.hp2 HG01081.hp2 HG01192.hp2 HG01361.hp1 HG01433.hp2 HG01891.hp1 HG01978.hp2 HG02027.hp2 HG02040.hp1 HG02132.hp1 HG02683.hp1 HG02717.hp2 HG02895.hp1 HG02922.hp2 HG03486.hp1 HG03710.hp2 NA18612.hp2 NA18964.hp2 NA18966.hp2 NA18973.hp1 NA18979.hp1 NA18986.hp2 NA18999.hp2 NA19005.hp2 NA19066.hp1 NA19090.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020	a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0047 others(28): Show a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0002g0018 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0091 a0001c0001t0002g0111 a0001c0001t0004g0023 a0001c0001t0004g0092 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0006g0035 a0001c0001t0007g0010 a0001c0001t0007g0053 a0001c0001t0007g0142 a0001c0001t0007g0160 a0001c0001t0009g0031 a0001c0001t0009g0048 a0001c0001t0009g0049 a0001c0001t0009g0081 a0001c0001t0011g0090 a0001c0001t0011g0158 a0001c0001t0012g0034 a0001c0001t0019g0021 a0001c0001t0020g0045	31	169	0.1834	-29	c.167 others(48): Show c.1671-4791_1671-4763delTTTGTATTTTTTTTTTTTTTTTTTTT TTT	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	22/23			chr16	TogoVar
PARP1_chr1_226355691_226413093	226408309	TCTTACTT others(22): Show TCTTACTTGATTTCACAACTAATTTTACCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0005 a0002c0003t0002g0005	1	358	0.0028	-29	c.-40 others(38): Show c.-409_-381delGGGTAAAATTAGTTGTGAAATCAAGTAAG	PARP1	ENSG00000143799.14	transcript	ENST00000366794.10	protein_coding		217		chr1	TogoVar
PARVB_chr22_44019302_44177939	44114580	AAGGCCCT others(22): Show AAGGCCCTGCACCAACACAGATACATTGTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02055.hp2 others(5): Show HG01109.hp2 HG02055.hp1 HG02055.hp2 HG02280.hp2 HG02630.hp2 HG03453.hp2 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0001t0021 others(5): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0021 a0001c0001t0033 a0001c0002t0001 a0001c0002t0005 a0001c0002t0039 a0001c0002t0066	a0001c0001t0003g0328 a0001c0001t0009g0154 a0001c0001t0021g0090 others(5): Show a0001c0001t0003g0328 a0001c0001t0009g0154 a0001c0001t0021g0090 a0001c0001t0033g0209 a0001c0002t0001g0125 a0001c0002t0005g0194 a0001c0002t0039g0089 a0001c0002t0066g0105	8	332	0.0241	-29	c.274 others(46): Show c.274-4456_274-4428delGGCCCTGCACCAACACAGATACATTGTT A	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVG_chr22_44175925_44213469	44197000	GGTGCACA others(22): Show GGTGCACAGTAGCAGACCGGCTGCCAGCCC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0149 a0001c0003t0004g0149	1	422	0.0024	-29	c.711 others(44): Show c.711+587_711+615delTGCACAGTAGCAGACCGGCTGCCAGCCCG	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
PAWR_chr12_79579879_79695964	79613959	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	256	0.0039	-29	c.649 others(44): Show c.649-379_649-351delAAAAAAAAATATATATATATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613973	ATATATAT others(22): Show ATATATATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0003 a0003c0005t0007g0003	1	256	0.0039	-29	c.649 others(44): Show c.649-393_649-365delAAAAAAAAAAAAAAAAAAAAAAATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613979	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0005 a0001c0003t0003g0005	1	256	0.0039	-29	c.649 others(44): Show c.649-399_649-371delAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PBRM1_chr3_52540367_52690913	52596436	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	300	0.0033	-29	c.282 others(48): Show c.2824+7056_2824+7084delTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	19/31			chr3	TogoVar
PBX1_chr1_164554184_164856831	164603924	ATTTCATT others(22): Show ATTTCATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0159 a0001c0001t0021g0159	1	184	0.0054	-29	c.265 others(48): Show c.265+40617_265+40645delCATTTTTTTTTTTTTTTTTTTTTTTT TTT	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX3_chr9_125742373_125972377	125943352	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18999.hp2 NA18981.hp2 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0002 a0001c0001t0001 a0002c0005t0002	a0001c0001t0001g0207 a0002c0005t0002g0037 a0001c0001t0001g0207 a0002c0005t0002g0037	2	294	0.0068	-29	c.843 others(46): Show c.843+7764_843+7792delAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX4_chr19_19556713_19623687	19568377	AGTATCCC others(22): Show AGTATCCCTCAGGGAGCTCACACTCCATCT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04115.hp1 NA18997.hp2 HG03942.hp2 HG04115.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0261 a0001c0001t0001g0274 a0001c0001t0001g0239 a0001c0001t0001g0261 a0001c0001t0001g0274	3	376	0.0080	-29	c.768 others(46): Show c.768+1043_768+1071delAGATGGAGTGTGAGCTCCCTGAGGGATA C	PBX4	ENSG00000105717.14	transcript	ENST00000251203.14	protein_coding	5/7			chr19	TogoVar
PCBP3_chr21_45638725_45947450	45705342	AGGTCACA others(22): Show AGGTCACAGTAGGACCCAGACTGGAGATGT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0195 a0001c0001t0010g0195	1	292	0.0034	-29	c.-19 others(50): Show c.-199-30047_-199-30019delTCACAGTAGGACCCAGACTGGAGA TGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45814959	GGTGAGTG others(22): Show GGTGAGTGGTGAGTGATGAGTGAGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01361.hp2 NA18940.hp1 HG00280.hp2 HG01361.hp2 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0205 a0001c0001t0001g0288 a0001c0001t0001g0289	3	292	0.0103	-29	c.-12 others(50): Show c.-125-34986_-125-34958delTGAGTGAGTGGTGAGTGAGTGGTG AGTGA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH15_chr10_53797771_54806231	53964413	TAAATTTT others(22): Show TAAATTTTATTTATTCATAAAATTTTTATA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp1 homoSapiens_chm13v2.hp1 HG01081.hp1 HG01192.hp1 homoSapiens_chm13v2.hp1	a0008 a0014 a0008 a0014	a0008c0010 a0014c0014 a0008c0010 a0014c0014	a0008c0010t0001 a0014c0014t0001 a0008c0010t0001 a0014c0014t0001	a0008c0010t0001g0068 a0008c0010t0001g0091 a0014c0014t0001g0012 a0008c0010t0001g0068 a0008c0010t0001g0091 a0014c0014t0001g0012	3	102	0.0294	-29	c.286 others(48): Show c.2869-2550_2869-2522delTATAAAAATTTTATGAATAAATAAAA TTT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	21/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53964413	TAAATTTT others(22): Show TAAATTTTATTTATTCATAAAATTTTTATA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp1 homoSapiens_chm13v2.hp1 HG01081.hp2 HG01192.hp1 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0016 a0001c0001 a0008c0016	a0001c0001t0001 a0008c0016t0001 a0001c0001t0001 a0008c0016t0001	a0001c0001t0001g0062 a0001c0001t0001g0083 a0008c0016t0001g0012 a0001c0001t0001g0062 a0001c0001t0001g0083 a0008c0016t0001g0012	3	94	0.0319	-29	c.286 others(48): Show c.2869-2550_2869-2522delTATAAAAATTTTATGAATAAATAAAA TTT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	21/32			chr10	TogoVar
PCDH7_chr4_30715369_31151800	31056429	AAAAAGAA others(22): Show AAAAAGAAAGAAGGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	214	0.0047	-29	c.339 others(50): Show c.3392-86041_3392-86013delAAGAAAGAAGGAAAGAAAGAAAGA AAGAA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	31056494	AAAGAAAG others(22): Show AAAGAAAGAAAGAAAGAAAGAAAGGGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	214	0.0047	-29	c.339 others(50): Show c.3392-85978_3392-85950delAAGAAAGAAAGAAAGAAAGAAAGG GGAAG	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2			chr4	TogoVar
PCDH7_chr4_30715369_31151800	31097604	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0097 a0001c0001t0006g0097	1	214	0.0047	-29	c.339 others(50): Show c.3392-44868_3392-44840delTATATATATATATATATATATATA TATAT	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2			chr4	TogoVar
PCDH7_chr4_30715369_31151800	31097606	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG04204.hp2 NA18943.hp2 others(4): Show HG02683.hp1 HG04204.hp2 NA18943.hp2 NA18966.hp1 NA18983.hp2 NA18991.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0050 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0050 a0001c0002t0002 a0001c0002t0003	a0001c0001t0002g0199 a0001c0001t0003g0063 a0001c0001t0003g0079 others(4): Show a0001c0001t0002g0199 a0001c0001t0003g0063 a0001c0001t0003g0079 a0001c0001t0003g0100 a0001c0001t0050g0174 a0001c0002t0002g0160 a0001c0002t0003g0122	7	214	0.0327	-29	c.339 others(50): Show c.3392-44866_3392-44838delTATATATATATATATATATATATA TATAT	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2			chr4	TogoVar
PCDH9_chr13_66297834_67235336	66298765	GAGATAGA others(22): Show GAGATAGAGAGATAAGATAGAGATAGAGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02965.hp1 HG02970.hp2 others(1): Show HG02809.hp2 HG02965.hp1 HG02970.hp2 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0003c0013	a0001c0001t0017 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0001t0017 a0001c0003t0001 a0001c0004t0001 a0003c0013t0002	a0001c0001t0017g0077 a0001c0003t0001g0039 a0001c0004t0001g0043 others(1): Show a0001c0001t0017g0077 a0001c0003t0001g0039 a0001c0004t0001g0043 a0003c0013t0002g0015	4	80	0.0500	-29	c.58 others(40): Show c.5861_*5889delATCTCTATCTCTATCTTATCTCTCTATCT	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding		4068		chr13	TogoVar
PCED1B_chr12_47074621_47241660	47089458	ATACATAT others(22): Show ATACATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02145.hp1 others(4): Show HG01167.hp2 HG01169.hp1 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG03453.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0204 others(4): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0204 a0001c0002t0001g0071 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0207	7	322	0.0217	-29	c.-60 others(48): Show c.-609+9734_-609+9762delTACATATATATATATATATATATATA TAT	PCED1B	ENSG00000179715.13	transcript	ENST00000546455.6	protein_coding	1/3			chr12	TogoVar
PCSK2_chr20_17222040_17489578	17348031	GAAGAAAG others(22): Show GAAGAAAGAAAGAAAGAAAGGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	274	0.0037	-29	c.283 others(48): Show c.283-10276_283-10248delGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCYT1B_chrX_24553087_24652347	24593437	CTTTCTTT others(22): Show CTTTCTTTCTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19009.hp1 NA19007.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0045 a0001c0001t0026 a0001c0001t0045	a0001c0001t0026g0094 a0001c0001t0045g0096 a0001c0001t0026g0094 a0001c0001t0045g0096	2	260	0.0077	-29	c.335 others(46): Show c.335-3292_335-3264delAGAAAAGAAAAGAAAAGAAAAGAAAGAA A	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	3/7			chrX	TogoVar
PDE10A_chr6_165322289_165668241	165384642	GTGTGTGT others(22): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTAT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0108 a0001c0008t0003g0108	1	222	0.0045	-29	c.261 others(48): Show c.2610+3627_2610+3655delATACACACACACACACACACACACAC ACA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	17/21			chr6	TogoVar
PDE10A_chr6_165322289_165668241	165384643	TGTGTGTG others(22): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTATG	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	222	0.0045	-29	c.261 others(48): Show c.2610+3626_2610+3654delCATACACACACACACACACACACACA CAC	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	17/21			chr6	TogoVar
PDE11A_chr2_177618244_178077777	177631501	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0063 a0001c0001t0014g0063	1	170	0.0059	-29	c.264 others(48): Show c.2647-1968_2647-1940delATATATATATATATATATTTTTTTTT TTT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	19/19			chr2	TogoVar
PDE3A_chr12_20363537_20693583	20395496	TACATAGT others(22): Show TACATAGTATAATATGTATACTATGTGTAC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0111 a0002c0002t0111	a0002c0002t0111g0065 a0002c0002t0111g0065	1	198	0.0051	-29	c.960 others(48): Show c.960+25292_960+25320delATATGTATACTATGTGTACACATAGT ATA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3B_chr11_14638804_14877044	14775093	CTTTTTCC others(22): Show CTTTTTCCCTTAACTTACTTTATTTTCTCT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19070.hp2 NA18960.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0294 a0001c0001t0002g0197 a0001c0001t0002g0294	2	332	0.0060	-29	c.102 others(48): Show c.1029+3111_1029+3139delTCCCTTAACTTACTTTATTTTCTCTT TTT	PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDE4D_chr5_58964038_59898726	59031363	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03239.hp1 HG03017.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0054 a0001c0001t0012g0061 a0001c0001t0012g0054 a0001c0001t0012g0061	2	74	0.0270	-29	c.921 others(46): Show c.921+7467_921+7495delATATATATATATATATATATATATATAT A	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	6/14			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149923550	TAACATAA others(22): Show TAACATAACATAACATAACATAACATAACA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp2 HG00738.hp1 others(39): Show HG00621.hp2 HG00735.hp2 HG00738.hp1 HG01433.hp2 HG01978.hp1 HG01981.hp1 HG02083.hp1 HG02109.hp1 HG02145.hp2 HG02155.hp1 HG02293.hp1 HG02723.hp1 HG02809.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03654.hp2 HG03831.hp1 HG04228.hp1 NA18747.hp2 NA18941.hp2 NA18946.hp1 NA18960.hp1 NA18962.hp1 NA18980.hp2 NA18985.hp1 NA18991.hp2 NA19000.hp2 NA19043.hp1 NA19056.hp2 NA19066.hp2 NA19082.hp2 NA19086.hp2 NA19088.hp2 NA20300.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0002 a0001c0008 others(5): Show a0001c0001 a0001c0002 a0001c0008 a0001c0009 a0001c0016 a0002c0003 a0002c0012 a0014c0018	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(26): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0020 a0001c0002t0035 a0001c0002t0063 a0001c0002t0064 a0001c0002t0079 a0001c0002t0083 a0001c0008t0006 a0001c0008t0018 a0001c0009t0055 a0001c0009t0057 a0001c0016t0008 a0002c0003t0026 a0002c0003t0050 a0002c0012t0018 a0014c0018t0001	a0001c0001t0001g0011 a0001c0001t0007g0114 a0001c0001t0011g0110 others(39): Show a0001c0001t0001g0011 a0001c0001t0007g0114 a0001c0001t0011g0110 a0001c0001t0021g0111 a0001c0002t0001g0227 a0001c0002t0001g0234 a0001c0002t0001g0237 a0001c0002t0001g0247 a0001c0002t0001g0259 a0001c0002t0001g0276 a0001c0002t0001g0301 a0001c0002t0002g0229 a0001c0002t0002g0288 a0001c0002t0002g0311 a0001c0002t0003g0249 a0001c0002t0003g0294 a0001c0002t0004g0300 a0001c0002t0005g0230 a0001c0002t0005g0246 a0001c0002t0005g0297 a0001c0002t0007g0271 a0001c0002t0007g0302 a0001c0002t0010g0303 a0001c0002t0012g0286 a0001c0002t0012g0293 a0001c0002t0013g0274 a0001c0002t0016g0270 a0001c0002t0020g0296 a0001c0002t0035g0307 a0001c0002t0063g0310 a0001c0002t0064g0281 a0001c0002t0079g0285 a0001c0002t0083g0327 a0001c0008t0006g0250 a0001c0008t0018g0262 a0001c0009t0055g0014 a0001c0009t0057g0112 a0001c0016t0008g0240 a0002c0003t0026g0214 a0002c0003t0050g0219 a0002c0012t0018g0215 a0014c0018t0001g0003	42	328	0.1281	-29	c.859 others(46): Show c.859-1870_859-1842delTGTTATGTTATGTTATGTTATGTTATGT T	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDGFB_chr22_39218359_39249982	39247876	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02148.hp1 HG02602.hp1 others(3): Show HG01074.hp2 HG02148.hp1 HG02602.hp1 HG02602.hp2 HG04115.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0118 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0118 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0003g0064	6	386	0.0155	-29	c.-39 others(40): Show c.-3942_-3914delATATATATATATATATTTTTTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2895		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247878	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01496.hp1 NA19083.hp2 HG00741.hp2 HG01496.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0169 a0001c0001t0002g0220 a0001c0001t0003g0059 a0001c0001t0001g0169 a0001c0001t0002g0220 a0001c0001t0003g0059	3	386	0.0078	-29	c.-39 others(40): Show c.-3944_-3916delATATATATATATATATATTTTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2897		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247880	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18961.hp2 NA18957.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0041 a0001c0001t0001g0001 a0001c0001t0002g0041	2	386	0.0052	-29	c.-39 others(40): Show c.-3946_-3918delATATATATATATATATATATTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2899		chr22	TogoVar
PDGFC_chr4_156755454_156976799	156891279	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02258.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0168 a0001c0002t0002g0169 a0001c0001t0002g0168 a0001c0002t0002g0169	2	208	0.0096	-29	c.119 others(48): Show c.119-40892_119-40864delTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFD_chr11_103902189_104169147	103955163	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03471.hp1 HG02559.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0073 a0001c0001t0010g0129 a0001c0001t0002g0073 a0001c0001t0010g0129	2	200	0.0100	-29	c.511 others(46): Show c.511-7468_511-7440delTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6			chr11	TogoVar
PDIA2_chr16_278164_292215	285902	TCCCAACC others(22): Show TCCCAACCCCAACCCCGCGGTTCTCCCAAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02717.hp2 others(11): Show HG01243.hp1 HG01891.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG03041.hp1 HG03195.hp2 HG03453.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0005 a0001c0019 others(1): Show a0001c0001 a0001c0005 a0001c0019 a0009c0054	a0001c0001t0001 a0001c0005t0001 a0001c0019t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0001c0019t0001 a0009c0054t0001	a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0039 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0170 a0001c0005t0001g0090 a0001c0019t0001g0012 a0001c0019t0001g0039 a0009c0054t0001g0062	14	436	0.0321	-29	c.111 others(46): Show c.1119+215_1119+243delGCGGTTCTCCCAACCCCAACCCCAACCC C	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDS5B_chr13_32581452_32783019	32635170	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp2 HG02886.hp1 others(3): Show HG02572.hp2 HG02818.hp2 HG02886.hp1 HG03041.hp2 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0003 a0001c0002t0007	a0001c0002t0003g0002 a0001c0002t0007g0214 a0001c0002t0007g0228 others(3): Show a0001c0002t0003g0002 a0001c0002t0007g0214 a0001c0002t0007g0228 a0001c0002t0007g0229 a0001c0002t0007g0230 a0001c0002t0007g0231	6	334	0.0180	-29	c.-19 others(48): Show c.-19-13567_-19-13539delTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDZD8_chr10_117272274_117380440	117357766	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03579.hp2 HG02683.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0262 a0001c0001t0001g0227 a0001c0001t0001g0262	2	322	0.0062	-29	c.872 others(48): Show c.872+16561_872+16589delTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4			chr10	TogoVar
PDZRN4_chr12_41183320_41579745	41383969	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp1 HG02257.hp2 others(3): Show HG00741.hp2 HG01167.hp1 HG02257.hp2 HG02886.hp2 HG03139.hp2 HG03225.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0016 a0002c0024 a0004c0020 others(2): Show a0002c0016 a0002c0024 a0004c0020 a0005c0008 a0005c0028	a0002c0016t0001 a0002c0024t0002 a0004c0020t0001 others(2): Show a0002c0016t0001 a0002c0024t0002 a0004c0020t0001 a0005c0008t0001 a0005c0028t0001	a0002c0016t0001g0186 a0002c0016t0001g0187 a0002c0024t0002g0134 others(3): Show a0002c0016t0001g0186 a0002c0016t0001g0187 a0002c0024t0002g0134 a0004c0020t0001g0004 a0005c0008t0001g0161 a0005c0028t0001g0089	6	206	0.0291	-29	c.844 others(50): Show c.844-122464_844-122436delTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar

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