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
PSMA3_chr14_58239843_58277004	58254340	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA18941.hp2 NA18949.hp1 HG01070.hp2 NA18941.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0247 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0247	3	154	0.0195	30	c.228 others(47): Show c.228+2101_228+2102insATATATATATATATATATATATGTATGT AT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMB2_chr1_35594541_35646526	35640087	A A	ATACTATA others(23): Show ATACTATACTATACTATACTATACTGTACTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03540.hp1 HG04115.hp1 others(2): Show HG00438.hp2 HG03540.hp1 HG04115.hp1 NA19078.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0018 a0001c0001t0008 a0001c0001t0014 a0001c0001t0018	a0001c0001t0008g0218 a0001c0001t0008g0220 a0001c0001t0008g0221 others(2): Show a0001c0001t0008g0218 a0001c0001t0008g0220 a0001c0001t0008g0221 a0001c0001t0014g0217 a0001c0001t0018g0219	5	282	0.0177	30	c.91+ others(45): Show c.91+1254_91+1255insCAGTACAGTATAGTATAGTATAGTATAGTA	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	1/5			chr1	TogoVar
PSMD12_chr17_67332916_67371577	67334603	C C	CAAAAAAA others(23): Show CAAAAAAAAAAACAAAAAAACAAAAAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0333 a0001c0002t0004g0333	1	220	0.0045	30	c.62 others(41): Show c.6239_*6240insTGTTTTTTTTGTTTTTTTGTTTTTTTTTTT	PSMD12	ENSG00000197170.10	transcript	ENST00000356126.8	protein_coding		3312		chr17	TogoVar
PSMD14_chr2_161303425_161416717	161327946	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	25	0.0400	30	c.48+ others(45): Show c.48+9082_48+9111dupTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161357076	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02145.hp1 HG03453.hp1 others(5): Show HG00140.hp2 HG02145.hp1 HG03453.hp1 HG03579.hp1 NA18943.hp1 NA18954.hp2 NA18979.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0187 a0001c0001t0001g0191 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0232 a0001c0001t0001g0245	8	26	0.3077	30	c.49- others(47): Show c.49-10390_49-10389insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(23): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18959.hp2 HG01891.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0125 a0001c0001t0002g0076 a0001c0001t0001g0125 a0001c0001t0002g0076	2	36	0.0556	30	c.571 others(47): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	35	0.0286	30	c.571 others(47): Show c.571-1192_571-1191insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD4_chr1_151249734_151272479	151251260	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	40	0.0250	30	c.-35 others(41): Show c.-3523_-3522insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding		3473		chr1	TogoVar
PSMD8_chr19_38369571_38388824	38380723	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGCGCGCGCGTGCGCGC	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	352	0.0028	30	c.703 others(45): Show c.703-169_703-168insTGTGTGTGCGCGCGCGTGCGCGCGTGTGTG	PSMD8	ENSG00000099341.13	transcript	ENST00000215071.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
PSMD8_chr19_38369571_38388824	38385765	A A	AGCCGGGG others(23): Show AGCCGGGGATGGGGCCGGGGCCGGGGCCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03098.hp2 HG01891.hp2 HG03098.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0028 a0002c0005t0001g0028	2	336	0.0060	30	c.23 others(41): Show c.2375_*2376insGCCGGGGATGGGGCCGGGGCCGGGGCCGGG	PSMD8	ENSG00000099341.13	transcript	ENST00000215071.9	protein_coding		1942		chr19	TogoVar
PSME4_chr2_53859069_53975993	53861889	A A	AATAAAAA others(23): Show AATAAAAAGCTCCCTCATCTAGGCATCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0248 a0003c0004t0001g0248	1	382	0.0026	30	c.36 others(41): Show c.3688_*3689insGAGAGATGCCTAGATGAGGGAGCTTTTTAT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding		2179		chr2	TogoVar
PSME4_chr2_53859069_53975993	53876716	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18940.hp1 HG00621.hp1 NA18940.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0007 a0001c0005t0001 a0001c0005t0007	a0001c0005t0001g0351 a0001c0005t0007g0331 a0001c0005t0001g0351 a0001c0005t0007g0331	2	71	0.0282	30	c.481 others(47): Show c.4816-962_4816-961insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	41/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0032 a0004c0005t0032	a0004c0005t0032g0188 a0004c0005t0032g0188	1	150	0.0067	30	c.366 others(47): Show c.366-1551_366-1550insATATATATATATATATATATATATATAT TT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG03225.hp1 HG00280.hp2 HG00738.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0056 a0001c0001t0031g0045 a0001c0001t0031g0057 a0001c0001t0001g0056 a0001c0001t0031g0045 a0001c0001t0031g0057	3	152	0.0197	30	c.366 others(47): Show c.366-1551_366-1550insATATATATATATATATATATATTTTTTT TT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	81	0.0123	30	c.174 others(47): Show c.174+1096_174+1097insATATATATATATATATATATTTTTTTTT TT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18980.hp2 NA19085.hp1 HG03239.hp2 NA18980.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0113 a0001c0001t0001g0003 a0001c0001t0001g0113	3	83	0.0361	30	c.174 others(47): Show c.174+1096_174+1097insATATATATATATATATATTTTTTTTTTT TT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSTK_chr10_122975401_122995390	122980723	C C	CGCGGGGC others(23): Show CGCGGGGCGGGGCGGGGCGGGGCGGGGCGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01978.hp1 HG02615.hp2 others(6): Show HG01243.hp1 HG01978.hp1 HG02615.hp2 HG02630.hp1 HG02970.hp1 NA18954.hp1 NA18954.hp2 NA18967.hp1 NA19085.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0029 a0001c0001t0001g0140 a0002c0002t0001g0055 others(3): Show a0001c0001t0001g0029 a0001c0001t0001g0140 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0139 a0003c0003t0001g0056	9	210	0.0429	30	c.216 others(43): Show c.216+35_216+64dupCGGGGCGGGGCGGGGCGGGGCGGGGCGGGG	PSTK	ENSG00000179988.15	transcript	ENST00000406217.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTBP1_chr19_792452_817312	814169	A A	ACCCTGGG others(23): Show ACCCTGGGCACCCGTGCCTCCCCCCTAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02647.hp2 HG02922.hp2 others(4): Show HG01106.hp2 HG02647.hp2 HG02922.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0018 a0001c0001t0001g0083 a0001c0001t0001g0092 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0003t0001g0117	7	386	0.0181	30	c.33 others(41): Show c.3343_*3344insCCCTGGGCACCCGTGCCTCCCCCCTAGAGC	PTBP1	ENSG00000011304.22	transcript	ENST00000356948.11	protein_coding		1858		chr19	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG02148.hp2 others(5): Show HG00558.hp1 HG00597.hp2 HG02148.hp2 HG02717.hp1 HG03209.hp1 NA18906.hp1 NA19083.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0263 a0001c0002t0001g0266 a0001c0002t0001g0273 others(5): Show a0001c0002t0001g0263 a0001c0002t0001g0266 a0001c0002t0001g0273 a0001c0002t0001g0282 a0001c0002t0001g0300 a0001c0002t0001g0334 a0001c0002t0001g0342 a0001c0002t0008g0289	8	104	0.0769	30	c.905 others(47): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112244289	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02083.hp2 HG04204.hp2 others(1): Show HG01975.hp1 HG02083.hp2 HG04204.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0164 a0001c0001t0002g0166 others(1): Show a0001c0001t0002g0129 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0286	4	61	0.0656	30	c.802 others(47): Show c.802+6639_802+6640insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTCH2_chr1_44816938_44848253	44830587	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0146 a0001c0005t0001g0146	1	157	0.0064	30	c.813 others(45): Show c.813+260_813+261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTCH2	ENSG00000117425.14	transcript	ENST00000372192.4	protein_coding	6/21			chr1	TogoVar
PTCHD1_chrX_23329849_23409374	23334765	T T	TCGCCGCC others(23): Show TCGCCGCCGCCGCGGGCGCCGCTGCCGCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0158 a0001c0001t0158	a0001c0001t0158g0106 a0001c0001t0158g0106	1	295	0.0034	30	c.-11 others(39): Show c.-111_-110insCGCCGCCGCCGCGGGCGCCGCTGCCGCCGC	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding		83		chrX	TogoVar
PTCHD4_chr6_47851673_48116197	47882741	G G	GAGATATA others(23): Show GAGATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp1 HG01169.hp1 others(12): Show HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01261.hp2 HG02109.hp1 HG02257.hp1 HG02698.hp2 HG02738.hp1 HG03225.hp1 HG03453.hp1 HG04115.hp2 NA18982.hp1 NA18984.hp2 NA18987.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0015 a0001c0001t0040 a0001c0001t0042 a0001c0001t0055 a0001c0001t0084 a0001c0001t0106 a0001c0001t0112 a0001c0001t0123	a0001c0001t0001g0003 a0001c0001t0001g0046 a0001c0001t0001g0047 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0004g0070 a0001c0001t0004g0138 a0001c0001t0010g0022 a0001c0001t0015g0029 a0001c0001t0015g0151 a0001c0001t0040g0002 a0001c0001t0042g0025 a0001c0001t0055g0017 a0001c0001t0084g0067 a0001c0001t0106g0078 a0001c0001t0112g0148 a0001c0001t0123g0156	15	98	0.1531	30	c.899 others(47): Show c.899-2806_899-2805insATATATATATATATATATATATATATAT CT	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4			chr6	TogoVar
PTCHD4_chr6_47851673_48116197	47882741	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	84	0.0119	30	c.899 others(47): Show c.899-2806_899-2805insATATATATATATATATATATATATATAT AT	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4			chr6	TogoVar
PTCHD4_chr6_47851673_48116197	48098318	T T	TTTCTTCT others(23): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG04115.hp1 HG01257.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0052 a0001c0002t0003 a0001c0002t0052	a0001c0002t0003g0106 a0001c0002t0052g0018 a0001c0002t0003g0106 a0001c0002t0052g0018	2	140	0.0143	30	c.-97 others(51): Show c.-970+12730_-970+12731insGAAGAAGAAGAAGAAGAAGAAGAA GAAGAA	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	1/4			chr6	TogoVar
PTCRA_chr6_42911053_42930838	42916244	A A	AGGGACCT others(23): Show AGGGACCTCTGGGGAGGGTCCCTCTGGGGAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02717.hp1 others(1): Show HG02109.hp1 HG02280.hp2 HG02717.hp1 HG02809.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0038 a0004c0004t0001g0130 a0004c0004t0001g0131 a0001c0001t0001g0038 a0004c0004t0001g0130 a0004c0004t0001g0131	4	410	0.0098	30	c.58+ others(43): Show c.58+135_58+164dupTCCCTCTGGGGAGGGGACCTCTGGGGAGGG	PTCRA	ENSG00000171611.10	transcript	ENST00000304672.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTGES3_chr12_56658349_56693284	56676139	G G	GGGAGGTG others(23): Show GGGAGGTGGAGGTGGAGGTGGAGGTGGAGGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02622.hp1 others(1): Show HG01891.hp1 HG01891.hp2 HG02622.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0248 others(1): Show a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0248 a0001c0001t0001g0267	4	123	0.0325	30	c.3-3 others(43): Show c.3-3075_3-3074insACCTCCACCTCCACCTCCACCTCCACCTCC	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGR2_chr14_73846831_73890726	73876483	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0073 a0001c0001t0004g0073	1	199	0.0050	30	c.349 others(45): Show c.349-499_349-498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTH2R_chr2_208401792_208499506	208408722	A A	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAAAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01884.hp2 HG02647.hp1 others(4): Show HG01496.hp2 HG01884.hp2 HG02647.hp1 HG02886.hp2 HG02965.hp2 HG03471.hp1 HG03491.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0003 a0001c0003t0003 a0002c0004t0004 a0001c0001t0003 a0001c0003t0003 a0002c0004t0004	a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 others(4): Show a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0003t0003g0223 a0001c0003t0003g0224 a0002c0004t0004g0271	7	229	0.0306	30	c.75+ others(45): Show c.75+1621_75+1622insGAGAAAGAGAGAGAGAGAGAGAGAGAGAGA	PTH2R	ENSG00000144407.10	transcript	ENST00000272847.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA19030.hp1 HG01074.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0305 a0001c0001t0003g0031 a0001c0001t0003g0305	2	212	0.0094	30	c.-38 others(49): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAAAAAAATA TATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0230 a0001c0010t0003g0230	1	211	0.0047	30	c.-38 others(49): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAAAAATATA TATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0027 a0001c0012t0004g0027	1	211	0.0047	30	c.-38 others(49): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAAATATATA TATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27405035	C C	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02055.hp1 HG01123.hp2 HG02055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0002c0005t0001 a0001c0001t0003 a0002c0005t0001	a0001c0001t0003g0181 a0002c0005t0001g0200 a0001c0001t0003g0181 a0002c0005t0001g0200	2	79	0.0253	30	c.204 others(47): Show c.204+7252_204+7281dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27414606	C C	CTCTGTGT others(23): Show CTCTGTGTGTGTGTGTGTGTATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0317 a0002c0006t0002g0317	1	215	0.0047	30	c.205 others(47): Show c.205-5288_205-5287insCTGTGTGTGTGTGTGTGTATGTGTGTGT GT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27414608	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTATGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00621.hp2 others(65): Show HG00408.hp2 HG00438.hp2 HG00621.hp2 HG00733.hp2 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01978.hp1 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03669.hp1 HG03704.hp1 HG03927.hp1 HG04115.hp1 HG06807.hp2 NA18906.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18966.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18999.hp1 NA19007.hp1 NA19068.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0011	a0001c0008 a0001c0009 a0001c0010 others(9): Show a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0022 a0001c0030 a0002c0003 a0002c0004 a0002c0006 a0002c0031 a0005c0016 a0011c0019	a0001c0008t0003 a0001c0009t0002 a0001c0010t0003 others(11): Show a0001c0008t0003 a0001c0009t0002 a0001c0010t0003 a0001c0012t0004 a0001c0022t0002 a0001c0030t0002 a0002c0003t0002 a0002c0003t0004 a0002c0003t0006 a0002c0004t0002 a0002c0006t0001 a0002c0031t0001 a0005c0016t0002 a0011c0019t0002	a0001c0008t0003g0314 a0001c0008t0003g0315 a0001c0009t0002g0103 others(64): Show a0001c0008t0003g0314 a0001c0008t0003g0315 a0001c0009t0002g0103 a0001c0010t0003g0289 a0001c0012t0004g0027 a0001c0012t0004g0211 a0001c0022t0002g0008 a0001c0030t0002g0007 a0002c0003t0002g0004 a0002c0003t0002g0057 a0002c0003t0002g0067 a0002c0003t0002g0180 a0002c0003t0002g0236 a0002c0003t0002g0239 a0002c0003t0002g0240 a0002c0003t0002g0241 a0002c0003t0002g0247 a0002c0003t0002g0249 a0002c0003t0002g0255 a0002c0003t0002g0256 a0002c0003t0002g0257 a0002c0003t0002g0258 a0002c0003t0002g0266 a0002c0003t0002g0268 a0002c0003t0002g0269 a0002c0003t0002g0271 a0002c0003t0002g0299 a0002c0003t0002g0300 a0002c0003t0002g0321 a0002c0003t0004g0272 a0002c0003t0006g0040 a0002c0004t0002g0094 a0002c0004t0002g0099 a0002c0004t0002g0100 a0002c0004t0002g0101 a0002c0004t0002g0104 a0002c0004t0002g0105 a0002c0004t0002g0108 a0002c0004t0002g0109 a0002c0004t0002g0110 a0002c0004t0002g0111 a0002c0004t0002g0112 a0002c0004t0002g0151 a0002c0004t0002g0208 a0002c0004t0002g0209 a0002c0004t0002g0210 a0002c0004t0002g0215 a0002c0004t0002g0224 a0002c0004t0002g0225 a0002c0004t0002g0242 a0002c0004t0002g0244 a0002c0004t0002g0245 a0002c0004t0002g0246 a0002c0004t0002g0248 a0002c0004t0002g0250 a0002c0004t0002g0298 a0002c0006t0001g0062 a0002c0006t0001g0066 a0002c0006t0001g0092 a0002c0006t0001g0234 a0002c0006t0001g0286 a0002c0006t0001g0290 a0002c0006t0001g0291 a0002c0006t0001g0323 a0002c0031t0001g0156 a0005c0016t0002g0106 a0011c0019t0002g0102	68	153	0.4444	30	c.205 others(47): Show c.205-5274_205-5273insGTGTATGTGTGTGTGTTTGTGTGTGTGT GT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27414608	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03209.hp2 HG02109.hp2 HG03209.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0243 a0001c0008t0003g0296 a0001c0008t0003g0243 a0001c0008t0003g0296	2	87	0.0230	30	c.205 others(47): Show c.205-5274_205-5273insGTGTGTGTGTGTGTGTTTGTGTGTGTGT GT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2_chr8_140652900_141006282	141000086	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	288	0.0035	30	c.-12 others(49): Show c.-122+1038_-122+1039insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	141000087	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18951.hp2 NA18990.hp2 others(1): Show HG03139.hp1 NA18951.hp2 NA18990.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0263 a0001c0001t0001g0264 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0003t0001g0262	4	41	0.0976	30	c.-12 others(49): Show c.-122+1008_-122+1037dupTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK6_chr20_63523001_63542376	63540396	G G	GGGCTCAG others(23): Show GGGCTCAGGGTTCCTCACCCAGAGCCTCCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0078 a0001c0003t0011g0078	1	342	0.0029	30	c.-31 others(41): Show c.-3112_-3083dupTCGGAGGCTCTGGGTGAGGAACCCTGAGCC	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding		3021		chr20	TogoVar
PTK7_chr6_43071314_43166715	43150787	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0078 a0001c0006t0001g0078	1	138	0.0072	30	c.272 others(49): Show c.2721+4118_2721+4119insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	36	0.0278	30	c.272 others(49): Show c.2722-1452_2722-1451insATATATATATATATATATTTTTTTTT TTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	62	0.0161	30	c.-2+ others(47): Show c.-2+19005_-2+19006insATATATATATATATATATATATATTTTT TT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTPN12_chr7_77532295_77645069	77537203	A A	AGGCGGCG others(23): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01358.hp2 NA20805.hp1 HG00280.hp2 HG01358.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141	3	7	0.4286	30	c.-34 others(39): Show c.-344_-343insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		91		chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCGC others(23): Show GCTCGCGCGCGCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	97	0.0103	30	c.102 others(49): Show c.1026-1230_1026-1229insGCGCGCGCTCTCTCTCTCTCTCTCTC TCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCGC others(23): Show GCTCGCGCGCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03516.hp2 HG02922.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0090 a0002c0002t0001g0091	2	98	0.0204	30	c.102 others(49): Show c.1026-1230_1026-1229insGCGCGCTCTCTCTCTCTCTCTCTCTC TCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCGC others(23): Show GCTCGCGCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0037	1	97	0.0103	30	c.102 others(49): Show c.1026-1230_1026-1229insGCGCTCTCTCTCTCTCTCTCTCTCTC TCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	72	0.0139	30	c.-15 others(51): Show c.-155+31117_-155+31118insATATATATATATATATATATTTTT TTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0100 a0001c0002t0006g0100	1	72	0.0139	30	c.-15 others(51): Show c.-155+31117_-155+31118insATATATATATATATATATATATTT TTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN18_chr2_130351056_130380405	130361512	C C	CTCTTTCT others(23): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0011 a0006c0009t0011	a0006c0009t0011g0211 a0006c0009t0011g0211	1	119	0.0084	30	c.414 others(47): Show c.414+1893_414+1894insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN18_chr2_130351056_130380405	130361528	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0004 a0007c0013t0004	a0007c0013t0004g0197 a0007c0013t0004g0197	1	364	0.0027	30	c.414 others(47): Show c.414+1884_414+1913dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar

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