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
PPA1_chr10_70197835_70238429	70206865	A A	AGGAGGGG others(43): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	17	0.0588	50	c.726 others(65): Show c.726-533_726-532insCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCC	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	8/10			chr10	TogoVar
PPEF2_chr4_75854867_75907452	75877006	A A	AAAAGAAA others(43): Show AAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	11	0.0909	50	c.934 others(65): Show c.934-334_934-333insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTTCTTT	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	10/16			chr4	TogoVar
PPEF2_chr4_75854867_75907452	75877006	A A	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02280.hp2 HG02735.hp2 HG01934.hp1 HG02280.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0173 a0001c0001t0002g0099 a0001c0001t0003g0226 a0001c0001t0001g0173 a0001c0001t0002g0099 a0001c0001t0003g0226	3	13	0.2308	50	c.934 others(65): Show c.934-334_934-333insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	10/16			chr4	TogoVar
PPFIA1_chr11_70265690_70389396	70277037	G G	GATATATA others(43): Show GATATATATATATATATTATAATATATGTATATATATATATATATTATAA T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0052 a0001c0004t0003g0052	1	267	0.0037	50	c.264 others(67): Show c.264+4617_264+4618insTATAATATATGTATATATATATATATAT TATAATATATATATATATATAT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA1_chr11_70265690_70389396	70277058	A A	ATTATAAT others(43): Show ATTATAATATATATATATATATATATATATATATATATATATTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0063 a0001c0004t0004g0063	1	215	0.0047	50	c.264 others(67): Show c.264+4623_264+4624insTATAATATATATATATATATATATATAT ATATATATATATTTTTTTTTTT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA2_chr12_81252975_81764350	81764033	C C	CTTTCTCC others(43): Show CTTTCTCCCATCCTCTCCCAAGGAGAACTCTGGCCTTTTACCAGAGTAAC T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0135 a0002c0003t0001g0135	1	167	0.0060	50	c.-48 others(61): Show c.-4865_-4864insAGTTACTCTGGTAAAAGGCCAGAGTTCTCCTTGG GAGAGGATGGGAGAAA	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding		4684		chr12	TogoVar
PPL_chr16_4877507_4942148	4920345	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0030 a0004c0030	a0004c0030t0002 a0004c0030t0002	a0004c0030t0002g0324 a0004c0030t0002g0324	1	252	0.0040	50	c.63- others(65): Show c.63-9397_63-9396insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21			chr16	TogoVar
PPL_chr16_4877507_4942148	4920345	G G	GAGAGAAA others(43): Show GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0307 a0002c0011t0002g0307	1	252	0.0040	50	c.63- others(65): Show c.63-9397_63-9396insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTCT	PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21			chr16	TogoVar
PPL_chr16_4877507_4942148	4920345	G G	GAGAGAGA others(43): Show GAGAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	252	0.0040	50	c.63- others(65): Show c.63-9397_63-9396insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTCTTTCTTTCTTTCTCTCT	PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21			chr16	TogoVar
PPP1R3B_chr8_9131255_9155658	9154000	A A	ACCTCCCG others(43): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG04184.hp2 HG02738.hp2 HG04184.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0006 a0001c0001t0002 a0003c0003t0006	a0001c0001t0002g0037 a0003c0003t0006g0134 a0001c0001t0002g0037 a0003c0003t0006g0134	2	15	0.1333	50	c.-34 others(61): Show c.-3456_-3455insGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGG	PPP1R3B	ENSG00000173281.5	transcript	ENST00000310455.4	protein_coding		3343		chr8	TogoVar
PPP1R9A_chr7_94902594_95301400	95070593	G G	GTATATAT others(43): Show GTATATATATATATATATATATATATATATATATATGTATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0008 a0007c0009t0008	a0007c0009t0008g0010 a0007c0009t0008g0010	1	215	0.0047	50	c.139 others(71): Show c.1396-40648_1396-40647insTATATATATATATATATGTATATA TATATATATATATATATATATATATA	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP2R3B_chrX_328933_391907	382085	C C	CCTGCACA others(43): Show CCTGCACACCCTGGCCGCCATGCCCACGGTCCACACGCATCCTTCCTTCT G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0020 a0002c0001t0002g0020	1	24	0.0417	50	c.324 others(67): Show c.324+4233_324+4282dupCAGAAGGAAGGATGCGTGTGGACCGTGG GCATGGCGGCCAGGGTGTGCAG	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12			chrX	TogoVar
PPP3CA_chr4_101018418_101352526	101106453	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	141	0.0071	50	c.384 others(67): Show c.384+2500_384+2501insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP4R2_chr3_72991811_73074198	73018452	T T	TGTTATGT others(43): Show TGTTATGTTTGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTAT G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0153 a0001c0001t0024g0153	1	183	0.0055	50	c.116 others(69): Show c.116+20294_116+20295insGTTATGTTTGTTATGTTATGTTATGT TATGTTATGTTATGTTATGTTATG	PPP4R2	ENSG00000163605.16	transcript	ENST00000356692.10	protein_coding	2/8			chr3	TogoVar
PPP5C_chr19_46342087_46395975	46389384	C C	CACACACA others(43): Show CACACACACACACACACACACACACAGTGTTGAGTAAGACTCCATCTCAA A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0354	1	391	0.0026	50	c.135 others(67): Show c.1356-642_1356-641insGTGTTGAGTAAGACTCCATCTCAAAACA CACACACACACACACACACACA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP5C_chr19_46342087_46395975	46389390	C C	CACACACA others(43): Show CACACACACACACACACACACACACAGTGTTGAGTAAGACTCCATCTCAA A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	389	0.0026	50	c.135 others(67): Show c.1356-636_1356-635insGTGTTGAGTAAGACTCCATCTCAAAACA CACACACACACACACACACACA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRDM15_chr21_41793225_41884344	41814873	T T	TGCCTTGT others(43): Show TGCCTTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATAAGATCTT G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02970.hp1 HG04199.hp2 others(3): Show HG02698.hp1 HG02970.hp1 HG04199.hp2 HG04228.hp1 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0013 a0001c0043 a0001c0013 a0001c0043	a0001c0013t0001 a0001c0043t0001 a0001c0013t0001 a0001c0043t0001	a0001c0013t0001g0025 a0001c0013t0001g0242 a0001c0013t0001g0251 others(3): Show a0001c0013t0001g0025 a0001c0013t0001g0242 a0001c0013t0001g0251 a0001c0013t0001g0302 a0001c0013t0001g0332 a0001c0043t0001g0289	6	404	0.0149	50	c.239 others(67): Show c.2392+782_2392+831dupCAAGATCTTATAAAACACTAGAGCACCC TGCGCAATCACTAACACAAGGC	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	19/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3181353	T T	TACACACA others(43): Show TACACACACGGTCTTACACACGCAGTCTTACGGTCTTACACACGGTCTTA C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0200 a0001c0009t0005g0200	1	201	0.0050	50	c.38- others(65): Show c.38-4766_38-4765insACGGTCTTACACACGCAGTCTTACGGTCTT ACACACGGTCTTACACACAC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3181486	A A	ACGGTCTT others(43): Show ACGGTCTTACACACAGTCTTACACACGGCCTTACGCATGGTCTTACACAC G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG02735.hp1 others(1): Show HG00639.hp2 HG00741.hp2 HG02735.hp1 HG02735.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0002t0002 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0002c0003t0001 a0003c0005t0006	a0001c0001t0001g0201 a0001c0002t0002g0146 a0002c0003t0001g0107 others(1): Show a0001c0001t0001g0201 a0001c0002t0002g0146 a0002c0003t0001g0107 a0003c0005t0006g0053	4	162	0.0247	50	c.38- others(65): Show c.38-4638_38-4637insGGTCTTACACACAGTCTTACACACGGCCTT ACGCATGGTCTTACACACGC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3276670	A A	AGGTGCCG others(43): Show AGGTGCCGTGAACAGAGCCAGCGAGGGGTGCCGTGAACAGAGCCAGCGAG G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0071 a0001c0002t0071	a0001c0002t0071g0099 a0001c0002t0071g0099	1	11	0.0909	50	c.438 others(69): Show c.438+32540_438+32589dupGTGAACAGAGCCAGCGAGGGGTGCCG TGAACAGAGCCAGCGAGGGGTGCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3276684	G G	GAGCCAGC others(43): Show GAGCCAGCGAGGGGTGCCGTGAACAGAGCCAGCGAGGGGTGCCGTGAACA A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG02965.hp1 others(3): Show HG02258.hp1 HG02615.hp2 HG02965.hp1 HG06807.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0021 a0001c0001 a0001c0004 a0001c0021	a0001c0001t0045 a0001c0001t0083 a0001c0004t0007 others(3): Show a0001c0001t0045 a0001c0001t0083 a0001c0004t0007 a0001c0004t0010 a0001c0004t0029 a0001c0021t0049	a0001c0001t0045g0024 a0001c0001t0083g0027 a0001c0004t0007g0063 others(3): Show a0001c0001t0045g0024 a0001c0001t0083g0027 a0001c0004t0007g0063 a0001c0004t0010g0034 a0001c0004t0029g0044 a0001c0021t0049g0023	6	208	0.0288	50	c.438 others(69): Show c.438+32589_438+32590insGTGAACAAAGCCAGCGAGGGGTGCCG TGAACAGAGCCAGCGAGGGGTGCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRELID2_chr5_145751344_145840342	145817421	T T	TTATATAT others(43): Show TTATATATATATATTTATATATATATATATATATATATATATATATTTAT A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0158 a0001c0001t0030g0158	1	97	0.0103	50	c.368 others(65): Show c.368+472_368+473insTATAAATATATATATATATATATATATATA TATATAAATATATATATATA	PRELID2	ENSG00000186314.12	transcript	ENST00000683046.1	protein_coding	4/6			chr5	TogoVar
PRKACB_chr1_84139271_84243498	84180206	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATGTAT G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	316	0.0032	50	c.249 others(65): Show c.249+971_249+972insATATATATATATATATATATATATATATAT ATATATATATATGTATGTAT	PRKACB	ENSG00000142875.21	transcript	ENST00000370685.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCB_chr16_23830983_24225611	23882021	T T	TCTTTCTT others(43): Show TCTTTCTTTCTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTT C	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0085 a0001c0001t0081g0085	1	37	0.0270	50	c.205 others(69): Show c.205+44618_205+44619insTCTTTCTCTTTCTTTCTTTCTTTCTT CCTTCCTTCCTTCCTTCCTTCCTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23882021	T T	TCTTTCTT others(43): Show TCTTTCTTTCTTTCTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTT C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0020 a0001c0002t0013g0020	1	37	0.0270	50	c.205 others(69): Show c.205+44618_205+44619insTCTTTCTTTCTCTTTCTTTCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23981880	C C	CCCTTTCC others(43): Show CCCTTTCCCTTCCCTTCCCCTTCCCCTCCCCCTTCCCTTCCCCTTCCCCT T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp2 HG02145.hp1 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0068 a0001c0006t0006 a0001c0002t0068 a0001c0006t0006	a0001c0002t0068g0052 a0001c0006t0006g0043 a0001c0002t0068g0052 a0001c0006t0006g0043	2	142	0.0141	50	c.206 others(67): Show c.206-6626_206-6625insTTTCCCTTCCCTTCCCCTTCCCCTCCCC CTTCCCTTCCCCTTCCCCTTCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24108963	G G	GGGCTGGC others(43): Show GGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01346.hp1 HG01358.hp1 others(9): Show HG01106.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG02615.hp2 HG02630.hp2 HG02698.hp2 HG03017.hp2 HG03704.hp1 NA18943.hp2 NA18983.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0011 a0002c0017	a0001c0001t0001 a0001c0001t0005 a0001c0001t0022 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0022 a0001c0001t0032 a0001c0002t0018 a0001c0003t0001 a0001c0003t0008 a0001c0004t0086 a0001c0007t0001 a0001c0011t0002 a0001c0011t0063 a0002c0017t0027	a0001c0001t0001g0114 a0001c0001t0005g0082 a0001c0001t0022g0119 others(9): Show a0001c0001t0001g0114 a0001c0001t0005g0082 a0001c0001t0022g0119 a0001c0001t0032g0130 a0001c0002t0018g0083 a0001c0003t0001g0128 a0001c0003t0008g0140 a0001c0004t0086g0024 a0001c0007t0001g0117 a0001c0011t0002g0136 a0001c0011t0063g0064 a0002c0017t0027g0081	12	119	0.1008	50	c.822 others(67): Show c.822-3993_822-3992insGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGG	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24108975	C C	CGGGGGGC others(43): Show CGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0101 a0001c0001t0049g0101	1	117	0.0085	50	c.822 others(67): Show c.822-3993_822-3992insGCTGACCCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGTGGGGG	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24108985	A A	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0108 a0001c0001t0060g0108	1	144	0.0069	50	c.822 others(67): Show c.822-3967_822-3966insTGGGGCGGCTGGCCGGGTGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGA	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24109024	C C	CGGGGGGC others(43): Show CGGGGGGCTGACCCCTCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0020 a0001c0002t0013g0020	1	144	0.0069	50	c.822 others(67): Show c.822-3935_822-3934insTCCACCTCCCTCCTGGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCD_chr3_53156209_53197717	53156624	A A	AGGCGGGG others(43): Show AGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCG G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	55	0.0182	50	c.-49 others(61): Show c.-4936_-4935insGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCG GGGCGGGGCGGGGCGG	PRKCD	ENSG00000163932.16	transcript	ENST00000330452.8	protein_coding		4584		chr3	TogoVar
PRKCD_chr3_53156209_53197717	53186806	G G	GCCTGGGC others(43): Show GCCTGGGCTAGAGCGGCAACTGGGGAGATGTGGGGGTAGCCTGGGTCGGC A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0007 a0001c0016t0007	a0001c0016t0007g0213 a0001c0016t0007g0213	1	320	0.0031	50	c.135 others(67): Show c.1352+114_1352+163dupTGGGCTAGAGCGGCAACTGGGGAGATGT GGGGGTAGCCTGGGTCGGCACC	PRKCD	ENSG00000163932.16	transcript	ENST00000330452.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
PRKCG_chr19_53877197_53912652	53903555	C C	CAACTAAA others(43): Show CAACTAAAAAAATTGGTTACCACACTCTTGATCATCTTCTTAGCTGGCTA T	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	360	0.0028	50	c.165 others(67): Show c.1656+403_1656+452dupAACTAAAAAAATTGGTTACCACACTCTT GATCATCTTCTTAGCTGGCTAT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKN_chr6_161342417_162732766	161646104	C C	CGGCGTAT others(43): Show CGGCGTATCAGTGACAGTGGTGACTGCGTGTGCGTGCGTGGCGGAGGAGG T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01361.hp2 HG01192.hp2 HG01361.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0017 a0002c0002t0001g0016 a0001c0001t0001g0017 a0002c0002t0001g0016	2	28	0.0714	50	c.872 others(69): Show c.872-76689_872-76688insACCTCCTCCGCCACGCACGCACACGC AGTCACCACTGTCACTGATACGCC	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161646304	T T	TGGCGTAT others(43): Show TGGCGTATCAGTGACAGTGGTCACTGCGTGTGCGTGCGTGGTGGAGGAGG C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01361.hp2 HG01192.hp2 HG01361.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0017 a0002c0002t0001g0016 a0001c0001t0001g0017 a0002c0002t0001g0016	2	32	0.0625	50	c.872 others(69): Show c.872-76889_872-76888insGCCTCCTCCACCACGCACGCACACGC AGTGACCACTGTCACTGATACGCC	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161874442	A A	ATAAAATA others(43): Show ATAAAATATATATTATATGTAAAATATATTATATGTAAAATATATTATAT G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02922.hp1 HG02976.hp2 others(2): Show HG02647.hp2 HG02922.hp1 HG02976.hp2 HG03516.hp2 HG03704.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0003 a0004c0009 others(1): Show a0001c0001 a0001c0003 a0004c0009 a0005c0011	a0001c0001t0001 a0001c0001t0008 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0002 a0004c0009t0010 a0005c0011t0011	a0001c0001t0001g0005 a0001c0001t0008g0020 a0001c0003t0002g0027 others(2): Show a0001c0001t0001g0005 a0001c0001t0008g0020 a0001c0003t0002g0027 a0004c0009t0010g0031 a0005c0011t0011g0009	5	25	0.2000	50	c.735 others(69): Show c.735-88535_735-88534insCATATAATATATTTTACATATAATAT ATTTTACATATAATATATATTTTA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161875040	T T	TATATATT others(43): Show TATATATTATATATAAAGTACATATAATATATTATATATAAAGTATATAT A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	32	0.0313	50	c.735 others(69): Show c.735-89133_735-89132insTATATATACTTTATATATAATATATT ATATGTACTTTATATATAATATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162010872	A A	ATATAATA others(43): Show ATATAATATATAATATAATATATAATATATAATATATTATATATAATTAA T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	32	0.0313	50	c.619 others(69): Show c.619-37456_619-37455insATTAATTATATATAATATATTATATA TTATATATTATATTATATATTATA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRPF38B_chr1_108687310_108707928	108689608	T T	TAACATTA others(43): Show TAACATTATATATATATATATATATATATATATATATATATATATAATGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01928.hp1 HG01256.hp2 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0047 a0001c0001t0002g0013 a0001c0001t0001g0047 a0001c0001t0002g0013	2	6	0.3333	50	c.-29 others(61): Show c.-2984_-2983insAACATTATATATATATATATATATATATATATAT ATATATATATAATGTG	PRPF38B	ENSG00000134186.12	transcript	ENST00000370025.9	protein_coding		2701		chr1	TogoVar
PRPF8_chr17_1645629_1689867	1689691	A A	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCTGGATGGGGTGGCTGGCCGGGCGGGGGGCTGA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0144	1	235	0.0043	50	c.-49 others(61): Show c.-4924_-4923insGTCAGCCCCCCGCCCGGCCAGCCACCCCATCCAG GAGGGAGGTGGGGGGG	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4825		chr17	TogoVar
PRPF8_chr17_1645629_1689867	1689864	C C	CGGCTGGC others(43): Show CGGCTGGCCTGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA21309.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0009 a0001c0013 a0001c0009 a0001c0013	a0001c0009t0001 a0001c0013t0001 a0001c0009t0001 a0001c0013t0001	a0001c0009t0001g0040 a0001c0013t0001g0148 a0001c0009t0001g0040 a0001c0013t0001g0148	2	93	0.0215	50	c.-50 others(61): Show c.-5097_-5096insACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCGCCAGGCCAGCC	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4998		chr17	TogoVar
PRRC2C_chr1_171480530_171598511	171569575	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03942.hp1 HG02738.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0178 a0001c0001t0001g0025 a0001c0001t0001g0178	2	66	0.0303	50	c.665 others(69): Show c.6651+1254_6651+1255insATATATATATATATATATATATATAT ATATATATATATATATATATATAT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS41_chr16_2793470_2810304	2795165	T T	TATATACA others(43): Show TATATACATATATACATATATATACATATATATACATATATACATATATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02965.hp2 HG03130.hp2 others(1): Show HG02615.hp2 HG02965.hp2 HG03130.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0039 a0001c0001t0001g0014 a0001c0001t0001g0039	4	400	0.0100	50	c.-33 others(61): Show c.-3320_-3319insATATACATATATACATATATATACATATATATAC ATATATACATATATAC	PRSS41	ENSG00000215148.11	transcript	ENST00000399677.5	protein_coding		3304		chr16	TogoVar
PRXL2A_chr10_80403551_80442115	80406757	C C	CATATATA others(43): Show CATATATATATATATATATATATATATTATCATATATATATATATATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	26	0.0385	50	c.-18 others(61): Show c.-1889_-1888insATATATATATATATATATATATATATTATCATAT ATATATATATATATAT	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1793		chr10	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(43): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0248 a0001c0001t0003g0248	1	156	0.0064	50	c.870 others(67): Show c.870-1095_870-1094insATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSD3_chr8_18522303_19018703	18594218	A A	ATATACAT others(43): Show ATATACATATTATATAATATATATTATTATATATTATATAATATATATTA T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0010 a0006c0012t0010	a0006c0012t0010g0187 a0006c0012t0010g0187	1	145	0.0069	50	c.248 others(69): Show c.2481+6145_2481+6146insATAATATATATTATATAATATATAAT AATATATATTATATAATATGTATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73184304	A A	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0237 a0001c0001t0004g0237	1	371	0.0027	50	c.481 others(67): Show c.481-2510_481-2509insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGC	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58254333	C C	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	183	0.0055	50	c.228 others(67): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT ATATATATATATATATATATAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58254340	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATGTAT G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02040.hp1 others(11): Show HG01884.hp2 HG01891.hp1 HG02040.hp1 HG02559.hp1 HG03491.hp1 HG03654.hp1 HG04184.hp2 NA18522.hp1 NA18955.hp1 NA18970.hp1 NA19000.hp1 NA19006.hp2 NA19010.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0025 a0001c0001t0001g0115 a0001c0001t0001g0116 others(10): Show a0001c0001t0001g0025 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0002t0001g0140	14	165	0.0848	50	c.228 others(67): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT ATATATATATATATGTATGTAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58254340	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATGTATGTAT G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	152	0.0066	50	c.228 others(67): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT ATATATATATGTATGTATGTAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar

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