Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PDE4D_chr5_58964038_59898726	59574085	TATATATA others(48): Show TATATATATAAATATATATTTATATATATATATAAATATATATTTATATA TATATA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	74	0.0135	-55	c.455 others(76): Show c.455+319028_455+319082delTATATATATATAAATATATATTTA TATATATATATAAATATATATTTATATATAT	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14			chr5	TogoVar
PF4_chr4_73975811_73987027	73982181	AAAAAAAA others(48): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAGAAAGAA AGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 NA19030.hp1 HG02109.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	366	0.0055	-55	c.-28 others(64): Show c.-283_-229delCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTTTTTTT TTTTTTTTTTTTTTTTTTT	PF4	ENSG00000163737.5	transcript	ENST00000296029.4	protein_coding		155		chr4	TogoVar
PHACTR3_chr20_59599540_59852711	59674522	CCGCTTCT others(48): Show CCGCTTCTTCTGTCTCCCCTTCTGTTCCCTCCTTCTCCTATTCCCCGCTT CTCCTG	C C	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	250	0.0040	-55	c.119 others(74): Show c.119-68584_119-68530delCGCTTCTTCTGTCTCCCCTTCTGTTC CCTCCTTCTCCTATTCCCCGCTTCTCCTG	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12			chr20	TogoVar
PI4K2A_chr10_97635671_97681434	97678879	GGGTGTGT others(48): Show GGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	350	0.0029	-55	c.51 others(66): Show c.5138_*5192delGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2446		chr10	TogoVar
PI4K2A_chr10_97635671_97681434	97678945	GTGTGTGT others(48): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	350	0.0029	-55	c.52 others(66): Show c.5204_*5258delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2512		chr10	TogoVar
PI4KA_chr22_20702691_20863811	20789921	AAGTGACT others(48): Show AAGTGACTGGTGACACAAGTAAACTTGCTCTCAGTGAAATACATGAATGT TTTTCC	A A	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0015 a0015	a0015c0043 a0015c0043	a0015c0043t0001 a0015c0043t0001	a0015c0043t0001g0266 a0015c0043t0001g0266	1	334	0.0030	-55	c.232 others(74): Show c.2328+3217_2328+3271delGGAAAAACATTCATGTATTTCACTGA GAGCAAGTTTACTTGTGTCACCAGTCACT	PI4KA	ENSG00000241973.11	transcript	ENST00000255882.11	protein_coding	19/54			chr22	TogoVar
PIEZO2_chr18_10665247_11154569	11014274	TCTCATTC others(48): Show TCTCATTCCTCAGTGGTAGGCACGTCACCCTGGGTGGGACAGCGATCCGG GGCTCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02572.hp2 others(5): Show HG01167.hp2 HG01169.hp2 HG02572.hp2 HG02630.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03225.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0015	a0001c0017 a0001c0065 a0002c0001 others(3): Show a0001c0017 a0001c0065 a0002c0001 a0002c0015 a0007c0004 a0015c0060	a0001c0017t0004 a0001c0065t0002 a0002c0001t0001 others(4): Show a0001c0017t0004 a0001c0065t0002 a0002c0001t0001 a0002c0001t0002 a0002c0015t0002 a0007c0004t0003 a0015c0060t0003	a0001c0017t0004g0142 a0001c0017t0004g0143 a0001c0065t0002g0003 others(5): Show a0001c0017t0004g0142 a0001c0017t0004g0143 a0001c0065t0002g0003 a0002c0001t0001g0087 a0002c0001t0002g0151 a0002c0015t0002g0107 a0007c0004t0003g0149 a0015c0060t0003g0078	8	158	0.0506	-55	c.161 others(74): Show c.161-34669_161-34615delGGAGCCCCGGATCGCTGTCCCACCCA GGGTGACGTGCCTACCACTGAGGAATGAG	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	2/55			chr18	TogoVar
PIGQ_chr16_564968_589109	572614	ATCCCTAA others(48): Show ATCCCTAAGGGCGTGGTGGGCTCTGAGACCTCCAGGCATCCCACTCTGTT CCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0215 a0002c0001t0001g0215	1	408	0.0025	-55	c.-9- others(70): Show c.-9-1431_-9-1377delTCTGAGACCTCCAGGCATCCCACTCTGTTC CCTCGTCCCTAAGGGCGTGGTGGGC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	572680	CGTGGTGG others(48): Show CGTGGTGGGCACTGGGACCTCCAGGCGTCCCGCTCTGTTCCCTCGTCCCT AAGGAT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0146 a0002c0001t0001g0146	1	408	0.0025	-55	c.-9- others(70): Show c.-9-1317_-9-1263delGGACCTCCAGGCGTCCCGCTCTGTTCCCTC GTCCCTAAGGATGTGGTGGGCACTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGU_chr20_34555542_34682092	34631749	ATATATAT others(48): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT TTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	320	0.0031	-55	c.529 others(72): Show c.529+2811_529+2865delAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATATATATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIWIL2_chr8_22270316_22362568	22280771	AGTTCTGT others(48): Show AGTTCTGTTGCATTTTGTTATACTGTTTATCAAATCAAAATGGAAAAATT AACTCT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp2 HG01167.hp1 others(12): Show HG00639.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01257.hp1 HG01258.hp2 HG01993.hp2 HG02145.hp2 HG02723.hp1 HG03486.hp1 HG03579.hp2 NA18942.hp1 NA18959.hp2 NA18974.hp2 NA18988.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0005 a0003c0002t0001 a0003c0002t0012 others(1): Show a0001c0001t0005 a0003c0002t0001 a0003c0002t0012 a0003c0002t0022	a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0008 others(12): Show a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0015 a0003c0002t0001g0019 a0003c0002t0012g0016 a0003c0002t0012g0017 a0003c0002t0012g0020 a0003c0002t0022g0018	15	296	0.0507	-55	c.199 others(70): Show c.199-302_199-248delATTAACTCTGTTCTGTTGCATTTTGTTATA CTGTTTATCAAATCAAAATGGAAAA	PIWIL2	ENSG00000197181.12	transcript	ENST00000356766.11	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKD2L1_chr10_100283149_100335228	100314989	AGGAAGGA others(48): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0013 a0013	a0013c0034 a0013c0034	a0013c0034t0001 a0013c0034t0001	a0013c0034t0001g0303 a0013c0034t0001g0303	1	306	0.0033	-55	c.349 others(74): Show c.349+14167_349+14221delCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCTTCCTTCCTTCCTTCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKP2_chr12_32785755_32901777	32858098	TATATATA others(48): Show TATATATATATATATATATTTATATATATTTTATATTTATATATATATAT ATATAA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0120 a0002c0002t0006g0120	1	342	0.0029	-55	c.117 others(74): Show c.1171-7180_1171-7126delTTATATATATATATATATAAATATAA AATATATATAAATATATATATATATATAT	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	4/12			chr12	TogoVar
PKP3_chr11_389209_409908	402042	ACCCCCGG others(48): Show ACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACC CCGGAC	A A	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0104 a0001c0008t0001g0104	1	216	0.0046	-55	c.173 others(73): Show c.1738-1032_1738-978delCCGGCCCCGCTCACCCCCGGCTCCACT GACCCCGGCCCCGCTCACCCCGGACCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402365	CGGCTCCA others(48): Show CGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGA CCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG02486.hp1 HG02622.hp2	a0001 a0001	a0001c0011 a0001c0019 a0001c0011 a0001c0019	a0001c0011t0001 a0001c0019t0001 a0001c0011t0001 a0001c0019t0001	a0001c0011t0001g0051 a0001c0019t0001g0086 a0001c0011t0001g0051 a0001c0019t0001g0086	2	216	0.0093	-55	c.173 others(72): Show c.1738-711_1738-657delGCTCCACTGACCCCGGCCCCGCTCACCC CGGACCCCGCTCACCCCCGACCCCCGG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCE1_chr10_93988931_94337823	94141548	TAAGGGAA others(48): Show TAAGGGAAGGTGAAGGGAAGGCTAAGGGAAGGTGAAGGGAAGGCTAAGGG AAGGCA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02257.hp2 others(5): Show HG01109.hp2 HG02145.hp2 HG02257.hp2 HG02559.hp1 HG02922.hp1 HG03195.hp1 HG03209.hp1 HG03579.hp1	a0001 a0003 a0007 others(3): Show a0001 a0003 a0007 a0009 a0013 a0018	a0001c0001 a0003c0006 a0007c0017 others(4): Show a0001c0001 a0003c0006 a0007c0017 a0007c0042 a0009c0022 a0013c0043 a0018c0024	a0001c0001t0052 a0003c0006t0007 a0007c0017t0037 others(5): Show a0001c0001t0052 a0003c0006t0007 a0007c0017t0037 a0007c0017t0039 a0007c0042t0081 a0009c0022t0004 a0013c0043t0072 a0018c0024t0007	a0001c0001t0052g0078 a0003c0006t0007g0067 a0007c0017t0037g0027 others(5): Show a0001c0001t0052g0078 a0003c0006t0007g0067 a0007c0017t0037g0027 a0007c0017t0039g0026 a0007c0042t0081g0092 a0009c0022t0004g0032 a0013c0043t0072g0091 a0018c0024t0007g0071	8	118	0.0678	-55	c.149 others(74): Show c.1492+9099_1492+9153delTGAAGGGAAGGCTAAGGGAAGGTGAA GGGAAGGCTAAGGGAAGGCAAAGGGAAGG	PLCE1	ENSG00000138193.17	transcript	ENST00000371380.8	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLCL1_chr2_197799593_198154863	197866053	ACACACAC others(48): Show ACACACACACACACACTATATATATATATATATATAAACTATATATATAT ATAAAC	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0133 a0001c0005t0001g0133	1	204	0.0049	-55	c.240 others(74): Show c.240+60715_240+60769delCACACACACACACACTATATATATAT ATATATATAAACTATATATATATATAAAC	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5			chr2	TogoVar
PLCL1_chr2_197799593_198154863	197866070	ATATATAT others(48): Show ATATATATATATATATATAAACTATATATATATATAAACTATATATATAT ATAAAC	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0029 a0001c0010t0029	a0001c0010t0029g0140 a0001c0010t0029g0140	1	204	0.0049	-55	c.240 others(74): Show c.240+60746_240+60800delTATAAACTATATATATATATAAACTA TATATATATATAAACTATATATATATATA	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCXD3_chr5_41301952_41515601	41471848	CTCCCCTC others(48): Show CTCCCCTCCCTTCCCTTCCCTTCCCTTCCCCTCCCTTCCCCTCCCCTCCC TTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19240.hp1 HG02647.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0023 a0001c0002t0013 a0001c0002t0023	a0001c0002t0013g0002 a0001c0002t0023g0003 a0001c0002t0013g0002 a0001c0002t0023g0003	2	244	0.0082	-55	c.103 others(74): Show c.103+38521_103+38575delAGGGAAGGGAGGGGAGGGGAAGGGAG GGGAAGGGAAGGGAAGGGAAGGGAGGGGA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLEKHN1_chr1_961482_980865	969958	GCAGGTTC others(48): Show GCAGGTTCTGTGCCTGTGGGGGGCTGTTCTTCACGTATGTGTTGTGTGGC TGTGCA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18940.hp2 NA18962.hp1 others(2): Show HG02132.hp2 NA18940.hp2 NA18962.hp1 NA19074.hp1 NA19087.hp1	a0004 a0004	a0004c0004 a0004c0056 a0004c0057 a0004c0004 a0004c0056 a0004c0057	a0004c0004t0003 a0004c0056t0003 a0004c0057t0003 a0004c0004t0003 a0004c0056t0003 a0004c0057t0003	a0004c0004t0003g0016 a0004c0004t0003g0126 a0004c0056t0003g0016 others(1): Show a0004c0004t0003g0016 a0004c0004t0003g0126 a0004c0056t0003g0016 a0004c0057t0003g0016	5	422	0.0119	-55	c.184 others(70): Show c.184-175_184-121delGTATGTGTTGTGTGGCTGTGCACAGGTTCT GTGCCTGTGGGGGGCTGTTCTTCAC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLEKHN1_chr1_961482_980865	977838	AATCCCCC others(48): Show AATCCCCCCAACCCCGGGAACTGCCTCCCACCACCCCCAACCCCGGGAAC CGCCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0013 a0001c0018t0003g0013	1	422	0.0024	-55	c.32 others(66): Show c.3264_*3318delATCCCCCCAACCCCGGGAACTGCCTCCCACCACC CCCAACCCCGGGAACCGCCTC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1974		chr1	TogoVar
PLGLB2_chr2_87743087_87764476	87756335	AAGAAATA others(48): Show AAGAAATAGAAGTGGGTTGGATCTCTTTCAGCCTCGGAAAAGCCTGCCAT TCCCCC	A A	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0042 a0001c0001t0011g0042	1	313	0.0032	-55	c.2- others(68): Show c.2-483_*2-429delGAAATAGAAGTGGGTTGGATCTCTTTCAGCCT CGGAAAAGCCTGCCATTCCCCCA	PLGLB2	ENSG00000125551.19	transcript	ENST00000359481.9	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLK3_chr1_44795377_44810990	44796061	TATAAATA others(48): Show TATAAATATATAACAATATATAAATATATAAAAATATATAACAATATATA AATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	384	0.0026	-55	c.-44 others(66): Show c.-4402_-4348delATAAATATATAACAATATATAAATATATAAAAAT ATATAACAATATATAAATATA	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4315		chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132132433	TTCTGTTC others(48): Show TTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGCTCTGCTCTGCTCTG CTCTGC	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0008 a0001c0008t0002g0008	1	88	0.0114	-55	c.558 others(72): Show c.5589+561_5589+615delGCAGAGCAGAGCAGAGCAGAGCAGAACA GAACAGAACAGAACAGAACAGAACAGA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31			chr7	TogoVar
PNPLA7_chr9_137454952_137555402	137551676	CGAGCCCC others(48): Show CGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCC GCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02559.hp2 NA18522.hp2 others(1): Show HG02145.hp1 HG02559.hp2 NA18522.hp2 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0018 a0001c0001 a0006c0018	a0001c0001t0001 a0006c0018t0001 a0001c0001t0001 a0006c0018t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0006c0018t0001g0127 others(1): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0006c0018t0001g0127 a0006c0018t0001g0128	4	188	0.0213	-55	c.-15 others(66): Show c.-1534_-1480delCGGGGCGGGGCTCGCGGGGCGGGGCTCGCGGGGC GGGGCTCGCGGGGCGGGGCTC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding		1275		chr9	TogoVar
POLE_chr12_132618762_132692342	132644976	AGGGGCAC others(48): Show AGGGGCACCCTAGCTTCGTGAATGGGGTCCTGGGGGGGCCTGGGAAAGCT GGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0010 a0001c0041t0010	a0001c0041t0010g0013 a0001c0041t0010g0013	1	292	0.0034	-55	c.415 others(74): Show c.4150-1054_4150-1000delCTCTCCAGCTTTCCCAGGCCCCCCCA GGACCCCATTCACGAAGCTAGGGTGCCCC	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	32/48			chr12	TogoVar
POMT1_chr9_131497918_131528799	131515733	AACAGGAC others(48): Show AACAGGACACTTCCTCACACGGAGCACTTCCTCTAACATGGAGCACTTCC TGTAAC	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18960.hp2 NA19076.hp1 NA18747.hp2 NA18960.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0058 a0001c0001t0001g0092 a0001c0001t0001g0109	3	334	0.0090	-55	c.127 others(72): Show c.1272+249_1272+303delTGGAGCACTTCCTGTAACACAGGACACT TCCTCACACGGAGCACTTCCTCTAACA	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
POR_chr7_75910155_75991855	75988922	CGGGTGGG others(48): Show CGGGTGGGTGTGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGC CGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0240 a0001c0006t0001g0240	1	278	0.0036	-55	c.24 others(66): Show c.2442_*2496delGGGTGGGTGTGTGGAGGGGAAGGCCGGGTGGGGG GGTGGAGGGGAAGGCCGGGTG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2068		chr7	TogoVar
PPBP_chr4_73981439_73993190	73982181	AAAAAAAA others(48): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAGAAAGAA AGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 NA19030.hp2 HG02109.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	2	368	0.0054	-55	c.50 others(66): Show c.5036_*5090delCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTTTTT TTTTTTTTTTTTTTTTTTTTT	PPBP	ENSG00000163736.4	transcript	ENST00000296028.4	protein_coding		4257		chr4	TogoVar
PPP1R21_chr2_48435766_48520386	48469416	CATATATA others(48): Show CATATATATATAGAGCATATATATATATAGAGAGAGCATATATATATATA GAGCAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp2 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0152 a0001c0003t0034g0153 a0001c0003t0034g0152 a0001c0003t0034g0153	2	372	0.0054	-55	c.898 others(72): Show c.898-1659_898-1605delGAGCATATATATATATAGAGAGAGCATA TATATATATAGAGCATATATATATATA	PPP1R21	ENSG00000162869.16	transcript	ENST00000294952.13	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R21_chr2_48435766_48520386	48469433	TATATATA others(48): Show TATATATATATAGAGAGAGCATATATATATATAGAGCATATATATATATA TAGAGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01255.hp2 others(3): Show HG00280.hp1 HG01070.hp2 HG01255.hp2 HG01516.hp2 HG01517.hp1 HG02735.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0312 a0001c0004t0009g0313 a0001c0004t0009g0314 others(3): Show a0001c0004t0009g0312 a0001c0004t0009g0313 a0001c0004t0009g0314 a0001c0004t0009g0315 a0001c0004t0009g0317 a0001c0004t0009g0318	6	372	0.0161	-55	c.898 others(72): Show c.898-1642_898-1588delGAGAGAGCATATATATATATAGAGCATA TATATATATATAGAGCATATATATATA	PPP1R21	ENSG00000162869.16	transcript	ENST00000294952.13	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP3CA_chr4_101018418_101352526	101106441	GAAAGAAA others(48): Show GAAAGAAAGAAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0085 a0001c0002t0021g0085	1	192	0.0052	-55	c.384 others(72): Show c.384+2458_384+2512delTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTCTTTCTTTCTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PRDM15_chr21_41793225_41884344	41806237	CCACCATC others(48): Show CCACCATCACCACCACCACCATCACCACCACCCATCACCACCACCACCAT CACCAT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18747.hp2 NA18944.hp1 others(10): Show HG02083.hp1 NA18747.hp2 NA18944.hp1 NA18947.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18971.hp1 NA18977.hp2 NA18993.hp1 NA19007.hp2 NA19080.hp2 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 others(10): Show a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0332 a0001c0002t0002g0351 a0001c0002t0002g0381 a0001c0002t0002g0382 a0001c0002t0002g0383	13	406	0.0320	-55	c.265 others(74): Show c.2653-1678_2653-1624delATGGTGATGGTGGTGGTGGTGATGGG TGGTGGTGATGGTGGTGGTGGTGATGGTG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3114400	GCACACAC others(48): Show GCACACACACGCACACACATGCACACACCAGGTGTAAACAGACGCACACG CACACA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02559.hp1 others(15): Show HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp2 NA18522.hp1 NA19030.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0022 a0002c0003 a0002c0007 a0002c0030	a0001c0001t0014 a0001c0001t0028 a0001c0001t0056 others(12): Show a0001c0001t0014 a0001c0001t0028 a0001c0001t0056 a0001c0001t0083 a0001c0002t0084 a0001c0004t0004 a0001c0004t0010 a0001c0004t0081 a0001c0006t0039 a0001c0008t0001 a0001c0022t0057 a0002c0003t0004 a0002c0003t0007 a0002c0007t0002 a0002c0030t0047	a0001c0001t0014g0069 a0001c0001t0028g0126 a0001c0001t0056g0204 others(15): Show a0001c0001t0014g0069 a0001c0001t0028g0126 a0001c0001t0056g0204 a0001c0001t0083g0027 a0001c0002t0084g0138 a0001c0004t0004g0051 a0001c0004t0010g0032 a0001c0004t0010g0130 a0001c0004t0010g0174 a0001c0004t0081g0031 a0001c0006t0039g0140 a0001c0008t0001g0005 a0001c0022t0057g0139 a0002c0003t0004g0048 a0002c0003t0004g0128 a0002c0003t0007g0103 a0002c0007t0002g0045 a0002c0030t0047g0206	18	210	0.0857	-55	c.37+ others(72): Show c.37+45108_37+45162delACACACGCACACACATGCACACACCAGG TGTAAACAGACGCACACGCACACACAC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKACA_chr19_14086688_14122762	14112410	GCTGCAGC others(48): Show GCTGCAGCCACAGCTGGAAGGTGGTCTCCAAGTCCCCACCCTGGCTGCTG CCTGAT	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03516.hp2 HG03579.hp1 HG01934.hp2 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311	3	358	0.0084	-55	c.46+ others(70): Show c.46+5037_47-5002delATCAGGCAGCAGCCAGGGTGGGGACTTGGA GACCACCTTCCAGCTGTGGCTGCAG	PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding	1/9			chr19	TogoVar
PRKN_chr6_161342417_162732766	162355218	AAATTATG others(48): Show AAATTATGTTCTAGGCTAGAGATCTAAAACATAATTATGTTTTAGATCTA GAACAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	32	0.0313	-55	c.171 others(74): Show c.171+88037_171+88091delATGTTCTAGATCTAAAACATAATTAT GTTTTAGATCTCTAGCCTAGAACATAATT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11			chr6	TogoVar
PRKX_chrX_3599340_3718649	3691430	CCCGGGGG others(48): Show CCCGGGGGAGTGGGCTACATTACATTCTACCTTCAAGAAAAATAACAATT TTTCGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(141): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02080.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18968.hp1 NA18968.hp2 NA18973.hp2 NA18983.hp1 NA18986.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19079.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA19091.hp1 NA20129.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0005 others(10): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0009 a0002c0003 a0002c0004 a0002c0011 a0002c0012 a0002c0014 a0003c0013 a0004c0010 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(107): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0030 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0044 a0001c0001t0048 a0001c0001t0050 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0001t0060 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0075 a0001c0001t0076 a0001c0001t0082 a0001c0001t0094 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0108 a0001c0001t0109 a0001c0001t0113 a0001c0001t0122 a0001c0001t0130 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0013 a0001c0002t0016 a0001c0002t0017 a0001c0002t0021 a0001c0002t0023 a0001c0002t0028 a0001c0002t0031 a0001c0002t0038 a0001c0002t0041 a0001c0002t0045 a0001c0002t0046 a0001c0002t0053 a0001c0002t0059 a0001c0002t0074 a0001c0002t0083 a0001c0002t0084 a0001c0002t0085 a0001c0002t0086 a0001c0002t0091 a0001c0002t0092 a0001c0002t0095 a0001c0002t0101 a0001c0002t0103 a0001c0002t0138 a0001c0002t0140 a0001c0005t0019 a0001c0007t0025 a0001c0009t0063 a0002c0003t0010 a0002c0003t0011 a0002c0003t0012 a0002c0003t0024 a0002c0003t0104 a0002c0003t0105 a0002c0003t0112 a0002c0003t0123 a0002c0003t0127 a0002c0004t0008 a0002c0004t0011 a0002c0004t0012 a0002c0004t0032 a0002c0004t0033 a0002c0004t0107 a0002c0004t0110 a0002c0004t0117 a0002c0004t0125 a0002c0004t0126 a0002c0004t0128 a0002c0004t0132 a0002c0004t0133 a0002c0011t0120 a0002c0012t0011 a0002c0014t0119 a0003c0013t0129 a0004c0010t0008 a0005c0006t0034	a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0055 others(141): Show a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0103 a0001c0001t0003g0062 a0001c0001t0003g0074 a0001c0001t0003g0080 a0001c0001t0004g0014 a0001c0001t0004g0026 a0001c0001t0004g0104 a0001c0001t0005g0016 a0001c0001t0005g0027 a0001c0001t0005g0091 a0001c0001t0006g0007 a0001c0001t0006g0012 a0001c0001t0007g0157 a0001c0001t0008g0180 a0001c0001t0008g0181 a0001c0001t0009g0006 a0001c0001t0010g0182 a0001c0001t0013g0056 a0001c0001t0014g0020 a0001c0001t0014g0025 a0001c0001t0014g0034 a0001c0001t0016g0137 a0001c0001t0017g0129 a0001c0001t0018g0111 a0001c0001t0020g0151 a0001c0001t0020g0155 a0001c0001t0022g0154 a0001c0001t0023g0135 a0001c0001t0023g0158 a0001c0001t0028g0114 a0001c0001t0030g0140 a0001c0001t0036g0073 a0001c0001t0037g0002 a0001c0001t0040g0048 a0001c0001t0044g0051 a0001c0001t0048g0078 a0001c0001t0050g0049 a0001c0001t0052g0057 a0001c0001t0054g0071 a0001c0001t0055g0077 a0001c0001t0058g0064 a0001c0001t0060g0101 a0001c0001t0066g0094 a0001c0001t0067g0065 a0001c0001t0068g0063 a0001c0001t0070g0046 a0001c0001t0071g0066 a0001c0001t0072g0098 a0001c0001t0075g0087 a0001c0001t0076g0008 a0001c0001t0082g0112 a0001c0001t0094g0107 a0001c0001t0096g0138 a0001c0001t0097g0148 a0001c0001t0098g0108 a0001c0001t0108g0174 a0001c0001t0109g0177 a0001c0001t0113g0183 a0001c0001t0122g0175 a0001c0001t0130g0173 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0093 a0001c0002t0001g0099 a0001c0002t0003g0039 a0001c0002t0005g0023 a0001c0002t0007g0128 a0001c0002t0007g0134 a0001c0002t0010g0176 a0001c0002t0013g0059 a0001c0002t0016g0118 a0001c0002t0016g0119 a0001c0002t0017g0130 a0001c0002t0021g0143 a0001c0002t0021g0149 a0001c0002t0023g0136 a0001c0002t0028g0109 a0001c0002t0031g0164 a0001c0002t0038g0053 a0001c0002t0041g0088 a0001c0002t0045g0047 a0001c0002t0046g0054 a0001c0002t0053g0042 a0001c0002t0059g0081 a0001c0002t0074g0043 a0001c0002t0083g0161 a0001c0002t0084g0117 a0001c0002t0085g0110 a0001c0002t0086g0139 a0001c0002t0091g0113 a0001c0002t0092g0159 a0001c0002t0095g0127 a0001c0002t0101g0160 a0001c0002t0103g0169 a0001c0002t0138g0221 a0001c0002t0140g0225 a0001c0005t0019g0106 a0001c0005t0019g0133 a0001c0005t0019g0141 a0001c0007t0025g0044 a0001c0009t0063g0096 a0002c0003t0010g0188 a0002c0003t0010g0189 a0002c0003t0011g0198 a0002c0003t0011g0216 a0002c0003t0012g0191 a0002c0003t0024g0105 a0002c0003t0104g0170 a0002c0003t0105g0171 a0002c0003t0112g0208 a0002c0003t0123g0213 a0002c0003t0127g0185 a0002c0004t0008g0190 a0002c0004t0011g0209 a0002c0004t0012g0192 a0002c0004t0012g0201 a0002c0004t0012g0217 a0002c0004t0032g0197 a0002c0004t0033g0194 a0002c0004t0033g0215 a0002c0004t0107g0218 a0002c0004t0110g0212 a0002c0004t0117g0210 a0002c0004t0125g0211 a0002c0004t0126g0193 a0002c0004t0128g0200 a0002c0004t0132g0203 a0002c0004t0133g0220 a0002c0011t0120g0207 a0002c0012t0011g0187 a0002c0014t0119g0196 a0003c0013t0129g0204 a0004c0010t0008g0178 a0005c0006t0034g0001	144	227	0.6344	-55	c.167 others(74): Show c.167-16719_167-16665delTCGAAAAATTGTTATTTTTCTTGAAG GTAGAATGTAATGTAGCCCACTCCCCCGG	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	1/8			chrX	TogoVar
PRR7_chr5_177441814_177461286	177451671	ACCCTCAG others(48): Show ACCCTCAGGCAGGGAGCACCCTGTAGCCTGCTTCGGAGAGTGACTGTGGT GCCCAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02015.hp1 HG02965.hp1 others(2): Show HG01884.hp2 HG02015.hp1 HG02965.hp1 HG02976.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0064 a0001c0001t0001g0009 a0001c0001t0001g0064	5	332	0.0151	-55	c.-32 others(74): Show c.-324-2195_-324-2141delGAGAGTGACTGTGGTGCCCAGCCCTC AGGCAGGGAGCACCCTGTAGCCTGCTTCG	PRR7	ENSG00000131188.12	transcript	ENST00000323249.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PSD3_chr8_18522303_19018703	18594187	ATTATATA others(48): Show ATTATATACATATTATATAATATATATTATTATATATATTATATAATATA TATTAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0159 a0001c0001t0043g0159	1	228	0.0044	-55	c.248 others(74): Show c.2481+6122_2481+6176delATAATATATATTATATAATATATATA ATAATATATATTATATAATATGTATATAA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18752510	AATATATG others(48): Show AATATATGTAATATATATAATTATATATTATATATATTATATATAATTAT ATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03704.hp1 NA18939.hp1 others(1): Show HG03540.hp1 HG03704.hp1 NA18939.hp1 NA18960.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0015 others(1): Show a0001c0001 a0001c0002 a0002c0015 a0004c0005	a0001c0001t0052 a0001c0002t0001 a0002c0015t0001 others(1): Show a0001c0001t0052 a0001c0002t0001 a0002c0015t0001 a0004c0005t0079	a0001c0001t0052g0203 a0001c0002t0001g0077 a0002c0015t0001g0129 others(1): Show a0001c0001t0052g0203 a0001c0002t0001g0077 a0002c0015t0001g0129 a0004c0005t0079g0216	4	228	0.0175	-55	c.217 others(76): Show c.2172+12884_2172+12938delATATATATAATTATATATAATATA TATAATATATAATTATATATATTACATATAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PTBP3_chr9_112213435_112338619	112277891	CATAACAT others(48): Show CATAACATAACATAACATAACATAACATAACATAACATAACATAACATAA CATAAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0339 a0001c0001t0024g0339	1	342	0.0029	-55	c.35- others(70): Show c.35-1933_35-1879delATTATGTTATGTTATGTTATGTTATGTTAT GTTATGTTATGTTATGTTATGTTAT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	2/13			chr9	TogoVar
PTGES3L_chr17_42963103_42985080	42967234	ATATTATA others(48): Show ATATTATATAATATATAATATAATATATAAAATATATATTATATAATATA TAATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	336	0.0030	-55	c.18 others(66): Show c.1859_*1913delATATTATATATTATATAATATATATTTTATATAT TATATTATATATTATATAATA	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding		868		chr17	TogoVar
PTGS1_chr9_122366024_122400703	122391321	CATATATA others(48): Show CATATATATGTGTGTGTATATATATACTATATATATACATATATATATAT ACATAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp1 HG03041.hp1 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0037 a0001c0006t0009g0037	2	332	0.0060	-55	c.144 others(72): Show c.1445-859_1445-805delGTGTGTGTATATATATACTATATATATA CATATATATATATACATATATATATAT	PTGS1	ENSG00000095303.17	transcript	ENST00000362012.7	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PTP4A2_chr1_31901421_31943368	31908135	TTATATTA others(48): Show TTATATTATATATATATATATATATATATATATATATATATATATATATA TATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0163 a0001c0001t0076g0163	1	354	0.0028	-55	c.66 others(64): Show c.662_*716delTATATATATATATATATATATATATATATATATATA TATATATATATATAATATA	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	662		chr1	TogoVar
PUM1_chr1_30926506_31070717	30972269	AAGGGAAG others(48): Show AAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	334	0.0030	-55	c.150 others(74): Show c.1506+2327_1506+2381delCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTTCCCTTCCCTTCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972397	GGGAGGGG others(48): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGAAGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18982.hp1 NA18982.hp2 HG00323.hp1 NA18982.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0002t0004 a0001c0001t0003 a0001c0001t0009 a0001c0002t0004	a0001c0001t0003g0100 a0001c0001t0009g0158 a0001c0002t0004g0225 a0001c0001t0003g0100 a0001c0001t0009g0158 a0001c0002t0004g0225	3	334	0.0090	-55	c.150 others(74): Show c.1506+2199_1506+2253delTCTTCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
QRFPR_chr4_121323642_121386018	121365573	AATATATA others(48): Show AATATATATTATATATATTATATATATATAATATATATATTATATATATT ATATAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0305 a0002c0002t0004g0305	1	384	0.0026	-55	c.340 others(74): Show c.340+14680_340+14734delATATATAATATATATAATATATATAT TATATATATATAATATATATAATATATAT	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
RAB28_chr4_13362724_13489340	13378731	AACCACAG others(48): Show AACCACAGAGAAGACAGAAGATATGAGAACAGATGGGGTAAGTAGGATGA GGTTAG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	196	0.0051	-55	c.496 others(72): Show c.496-2164_496-2110delCTAACCTCATCCTACTTACCCCATCTGT TCTCATATCTTCTGTCTTCTCTGTGGT	RAB28	ENSG00000157869.16	transcript	ENST00000288723.9	protein_coding	5/7			chr4	TogoVar
RABEP1_chr17_5277284_5391340	5282096	GCCGCGCT others(48): Show GCCGCGCTCCCTCCGCGCTCCCTCCGCGCTCCCTCCGCGCTCCCTCCGCG CTCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02071.hp2 HG02809.hp2 others(1): Show HG01109.hp1 HG02071.hp2 HG02809.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0006 a0001c0005t0005 a0001c0002t0006 a0001c0005t0005	a0001c0002t0006g0156 a0001c0005t0005g0278 a0001c0005t0005g0281 others(1): Show a0001c0002t0006g0156 a0001c0005t0005g0278 a0001c0005t0005g0281 a0001c0005t0005g0284	4	352	0.0114	-55	c.-39 others(64): Show c.-390_-336delCCGCGCTCCCTCCGCGCTCCCTCCGCGCTCCCTCCG CGCTCCCTCCGCGCTCCCT	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding		187		chr17	TogoVar
RABL2B_chr22_50762506_50788636	50786200	GGGTCAGG others(48): Show GGGTCAGGGTTAGGGTCAGGGTCAGAGTCATGGTTAGGGGTTAGGGTTAG GGTCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18948.hp2 NA18995.hp1 NA18944.hp1 NA18948.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0001g0207 a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0001g0207	3	476	0.0063	-55	c.-28 others(66): Show c.-2808_-2754delTTGACCCTAACCCTAACCCCTAACCATGACTCTG ACCCTGACCCTAACCCTGACC	RABL2B	ENSG00000079974.19	transcript	ENST00000691320.1	protein_coding		2565		chr22	TogoVar

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