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
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTCC others(38): Show CCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0343 a0001c0004t0002g0343	1	124	0.0081	45	c.176 others(62): Show c.1765-231_1765-230insCCTCCTCCTCCTCCTCCTCCTTCTTCTT CTTCTTCTTCTTCTTCT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTCC others(38): Show CCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	124	0.0081	45	c.176 others(62): Show c.1765-231_1765-230insCCTCCTCCTCCTCCTCCTTCTTCTTCTT CTTCTTCTTCTTCTTCT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTCC others(38): Show CCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0298 a0001c0002t0001g0298	1	124	0.0081	45	c.176 others(62): Show c.1765-231_1765-230insCCTCCTCCTCCTCCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTCC others(38): Show CCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0292 a0001c0002t0001g0292	1	124	0.0081	45	c.176 others(62): Show c.1765-231_1765-230insCCTCCTCCTCCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTTC others(38): Show CCTCCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	124	0.0081	45	c.176 others(62): Show c.1765-231_1765-230insCCTTCTTCTTCTTCCTCTTCTTCTTCTT CTTCTTCTTCTTCTTCT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTTC others(38): Show CCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0041 a0001c0005t0004g0041	1	124	0.0081	45	c.176 others(62): Show c.1765-231_1765-230insCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCZ_chr1_2045411_2190395	2124096	C C	CGTGGTGG others(38): Show CGTGGTGGTTAGGGTCGTGGTAGTTAGGGTCGTGGTGGTTAGGGTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03942.hp2 HG03704.hp2 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0155 a0001c0003t0004g0156 a0001c0003t0001g0155 a0001c0003t0004g0156	2	282	0.0071	45	c.335 others(64): Show c.335-11166_335-11165insGTGGTGGTTAGGGTCGTGGTAGTTAG GGTCGTGGTGGTTAGGGTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKRIP1_chr7_102391363_102431666	102430725	G G	GGAGGGAA others(38): Show GGAGGGAAAGGAGAGAAGGAAGAAGGAGGAAGAAGGAAGGAAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	380	0.0026	45	c.56 others(56): Show c.5614_*5615insGAGGGAAAGGAGAGAAGGAAGAAGGAGGAAGAAG GAAGGAAGGAA	PRKRIP1	ENSG00000128563.13	transcript	ENST00000397912.3	protein_coding		4060		chr7	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	119	0.0084	45	c.75+ others(60): Show c.75+4515_75+4516insATATATATATATATATATATATATATATAT ATATATATATATTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRORP_chr14_35117552_35282622	35172453	C C	CTTCCTTC others(38): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp2 HG01433.hp1 others(5): Show HG00408.hp1 HG00741.hp2 HG01433.hp1 HG02148.hp2 NA18968.hp1 NA19012.hp1 NA19012.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0010 a0001c0001t0001 a0001c0002t0001 a0001c0002t0010	a0001c0001t0001g0047 a0001c0002t0001g0234 a0001c0002t0001g0247 others(5): Show a0001c0001t0001g0047 a0001c0002t0001g0234 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0251 a0001c0002t0001g0267 a0001c0002t0010g0225	8	125	0.0640	45	c.116 others(64): Show c.1168-8214_1168-8213insCTTCCTTCCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTTC	PRORP	ENSG00000100890.16	transcript	ENST00000534898.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(38): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0030 a0001c0008t0001g0030	1	73	0.0137	45	c.23 others(56): Show c.2397_*2398insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54134016	T T	TCCCCTCT others(38): Show TCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	221	0.0045	45	c.25 others(56): Show c.2584_*2585insCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCC CTCTCTCTCCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2304		chr19	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(38): Show AAAAAAAAATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0094 a0002c0002t0004g0094	1	155	0.0065	45	c.79 others(56): Show c.7922_*7923insATATATATATATATATATATATATATATATATAT ATATTTTTTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(38): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19077.hp1 NA19064.hp2 NA19077.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0014 a0001c0001 a0011c0014	a0001c0001t0001 a0011c0014t0001 a0001c0001t0001 a0011c0014t0001	a0001c0001t0001g0079 a0011c0014t0001g0059 a0001c0001t0001g0079 a0011c0014t0001g0059	2	93	0.0215	45	c.-51 others(62): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRXL2A_chr10_80403551_80442115	80406757	C C	CTTATATA others(38): Show CTTATATATCATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	26	0.0385	45	c.-18 others(56): Show c.-1889_-1888insTTATATATCATATATATATATATATATATATATA TATATATATAT	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1793		chr10	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	156	0.0064	45	c.870 others(62): Show c.870-1095_870-1094insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(38): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	156	0.0064	45	c.870 others(62): Show c.870-1095_870-1094insATATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSMB6_chr17_4791164_4803495	4791526	C C	CCCTATAA others(38): Show CCCTATAATGTATTTTATTTTATTTTTGTGCCCCCTCTCCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0002 a0002c0005t0001g0002	1	452	0.0022	45	c.-46 others(56): Show c.-4669_-4668insCCTATAATGTATTTTATTTTATTTTTGTGCCCCC TCTCCCACCCT	PSMB6	ENSG00000142507.10	transcript	ENST00000270586.8	protein_coding		4637		chr17	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	81	0.0123	45	c.174 others(62): Show c.174+1096_174+1097insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTT	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(38): Show CGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02293.hp1 HG03942.hp2 others(2): Show HG02004.hp2 HG02293.hp1 HG03942.hp2 NA19078.hp1 NA20300.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0144 a0003c0003t0001g0030 a0003c0003t0001g0143 a0002c0002t0001g0144 a0003c0003t0001g0030 a0003c0003t0001g0143	5	206	0.0243	45	c.216 others(58): Show c.216+64_216+65insCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCG GGGCGGGGCGGGG	PSTK	ENSG00000179988.15	transcript	ENST00000406217.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTBP3_chr9_112213435_112338619	112320296	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0184 a0001c0002t0011g0184	1	340	0.0029	45	c.-52 others(64): Show c.-52+13173_-52+13174insAAAAAAATATATATATATATATATAT ATATATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATGTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0232 a0001c0003t0014g0232	1	180	0.0056	45	c.-20 others(56): Show c.-2010_-2009insAAAAAAAAACATATATATATATATATATATATAT ATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCHD4_chr6_47851673_48116197	48098318	T T	TTTCTTCT others(38): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0017 a0001c0001t0055g0017	1	139	0.0072	45	c.-97 others(66): Show c.-970+12730_-970+12731insGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAA	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	1/4			chr6	TogoVar
PTHLH_chr12_27953084_27977733	27970279	G G	GTGAGCTA others(38): Show GTGAGCTAGTCGCAAAGAGGTGGCGCCCTAGGAACGCGCGCGGGGC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	454	0.0022	45	c.-26 others(60): Show c.-265-57_-265-13dupGCCCCGCGCGCGTTCCTAGGGCGCCACCTC TTTGCGACTAGCTCA	PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	2/5			chr12	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	211	0.0047	45	c.-38 others(64): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATATATATATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK6_chr20_63523001_63542376	63535837	C C	CCCCCCTC others(38): Show CCCCCCTCACCTGGCCTCCCACCCCGTCCTCACCTGGCCTCCCGCA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0025 a0007c0015t0025	a0007c0015t0025g0236 a0007c0015t0025g0236	1	342	0.0029	45	c.231 others(60): Show c.231-779_231-778insTGCGGGAGGCCAGGTGAGGACGGGGTGGGA GGCCAGGTGAGGGGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	62	0.0161	45	c.-2+ others(62): Show c.-2+19005_-2+19006insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTP4A2_chr1_31901421_31943368	31908140	T T	TATATATA others(38): Show TATATATATATACATATATATATATATATATATATATATACATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0136 a0001c0001t0012g0136	1	331	0.0030	45	c.71 others(54): Show c.711_*712insTATATGTATATATATATATATATATATATATATGTA TATATATAT	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	711		chr1	TogoVar
PTPN14_chr1_214343700_214556602	214490857	A A	AGGGAGGG others(38): Show AGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0145 a0011c0027t0145	a0011c0027t0145g0234 a0011c0027t0145g0234	1	111	0.0090	45	c.-15 others(66): Show c.-154-25901_-154-25900insCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCC	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN23_chr3_47376021_47418435	47417894	G G	GGGTGAGA others(38): Show GGGTGAGAGGGGGCGGGGGAGGGGGGTGAGAGGGGGCGGGGGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 NA18964.hp1 NA18966.hp1 HG03942.hp2 NA18964.hp1 NA18966.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0002 a0002c0004t0001g0002 a0002c0004t0001g0012 a0001c0001t0001g0002 a0002c0004t0001g0002 a0002c0004t0001g0012	3	23	0.1304	45	c.47 others(56): Show c.4709_*4710insGGTGAGAGGGGGCGGGGGAGGGGGGTGAGAGGGG GCGGGGGAGAA	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding		4460		chr3	TogoVar
PTPN23_chr3_47376021_47418435	47417894	G G	GGTGAGAG others(38): Show GGTGAGAGGGGGCGGGGGAGGGGGGGTGAGAGGGGGCGGGGGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0099 a0005c0007t0001g0099	1	21	0.0476	45	c.47 others(56): Show c.4709_*4710insGTGAGAGGGGGCGGGGGAGGGGGGGTGAGAGGGG GCGGGGGAGAA	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding		4460		chr3	TogoVar
PTPN23_chr3_47376021_47418435	47417894	G G	GGTGAGAG others(38): Show GGTGAGAGGGGGCGGGGGAGGGGGGTGAGAGGGGGCGGGGGGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0085 a0002c0004t0001g0085	1	21	0.0476	45	c.47 others(56): Show c.4709_*4710insGTGAGAGGGGGCGGGGGAGGGGGGTGAGAGGGGG CGGGGGGAGAA	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding		4460		chr3	TogoVar
PTPN23_chr3_47376021_47418435	47417894	G G	GGTGAGAG others(38): Show GGTGAGAGGGGGCGGGGGAGGGGGGTGAGAGGGGGGCGGGGGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01934.hp2 HG02809.hp2 others(2): Show HG01256.hp2 HG01934.hp2 HG02809.hp2 NA19011.hp2 NA19058.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0004 a0005c0010 a0001c0001 a0002c0004 a0005c0010	a0001c0001t0001 a0002c0004t0001 a0005c0010t0001 a0001c0001t0001 a0002c0004t0001 a0005c0010t0001	a0001c0001t0001g0019 a0001c0001t0001g0096 a0002c0004t0001g0018 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0096 a0002c0004t0001g0018 a0002c0004t0001g0037 a0005c0010t0001g0002	5	25	0.2000	45	c.47 others(56): Show c.4709_*4710insGTGAGAGGGGGCGGGGGAGGGGGGTGAGAGGGGG GCGGGGGAGAA	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding		4460		chr3	TogoVar
PTPN23_chr3_47376021_47418435	47417894	G G	GGTGAGAG others(38): Show GGTGAGAGGGGGGCGGGGGAGGGGGGTGAGAGGGGGCGGGGGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01433.hp1 HG02148.hp1 others(1): Show HG01169.hp2 HG01433.hp1 HG02148.hp1 NA19080.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0004 a0005c0007 a0001c0001 a0002c0004 a0005c0007	a0001c0001t0001 a0002c0004t0001 a0005c0007t0001 a0001c0001t0001 a0002c0004t0001 a0005c0007t0001	a0001c0001t0001g0013 a0002c0004t0001g0070 a0002c0004t0001g0088 others(1): Show a0001c0001t0001g0013 a0002c0004t0001g0070 a0002c0004t0001g0088 a0005c0007t0001g0119	4	24	0.1667	45	c.47 others(56): Show c.4709_*4710insGTGAGAGGGGGGCGGGGGAGGGGGGTGAGAGGGG GCGGGGGAGAA	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding		4460		chr3	TogoVar
PTPN23_chr3_47376021_47418435	47417894	G G	GGTGAGAT others(38): Show GGTGAGATGGGGGCGGGGGAGGGGGGTGAGAGGGGGCGGGGGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	21	0.0476	45	c.47 others(56): Show c.4709_*4710insGTGAGATGGGGGCGGGGGAGGGGGGTGAGAGGGG GCGGGGGAGAA	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding		4460		chr3	TogoVar
PTPN23_chr3_47376021_47418435	47417900	A A	AGGGGGCG others(38): Show AGGGGGCGGGGGAGGGGGGTGAGAGGGGGCGGGGGAGAAGTGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	327	0.0031	45	c.47 others(56): Show c.4715_*4716insGGGGGCGGGGGAGGGGGGTGAGAGGGGGCGGGGG AGAAGTGAGAG	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding		4466		chr3	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	58	0.0172	45	c.859 others(62): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAT others(38): Show AAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	58	0.0172	45	c.859 others(62): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATATATATATATTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12876296	A A	AAAGAAGA others(38): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18945.hp1 NA18952.hp1 others(6): Show NA18941.hp1 NA18945.hp1 NA18952.hp1 NA18982.hp2 NA18984.hp2 NA18997.hp2 NA19003.hp1 NA19057.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(6): Show a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0058	9	78	0.1154	45	c.69+ others(60): Show c.69+7776_69+7777insCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
PTPN3_chr9_109370700_109503307	109463035	G G	GATGAGGA others(38): Show GATGAGGACTTCCCAGAAGCACCAACATCTGAGCGTCAAACAGTTC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0011	1	288	0.0035	45	c.138 others(60): Show c.138+217_138+261dupGAACTGTTTGACGCTCAGATGTTGGTGCTT CTGGGAAGTCCTCAT	PTPN3	ENSG00000070159.14	transcript	ENST00000374541.4	protein_coding	2/25			chr9	TogoVar
PTPRE_chr10_127902103_128090855	128010545	C C	CCTTTTCT others(38): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp1 HG02280.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0011 a0001c0001t0004 a0001c0003t0011	a0001c0001t0004g0102 a0001c0003t0011g0242 a0001c0001t0004g0102 a0001c0003t0011g0242	2	53	0.0377	45	c.-8+ others(62): Show c.-8+28254_-8+28298dupTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTT	PTPRE	ENSG00000132334.17	transcript	ENST00000254667.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPRZ1_chr7_121868161_122067036	122050444	A A	AGAGGGGA others(38): Show AGAGGGGAGGGGAAGGAAGGGGAGGGGAGGGGAAGGAAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0007 a0007	a0007c0033 a0007c0033	a0007c0033t0004 a0007c0033t0004	a0007c0033t0004g0210 a0007c0033t0004g0210	1	2	0.5000	45	c.608 others(62): Show c.6085-974_6085-973insGAAGGAAGGGGAGGGGAGGGGAAGGAAG GGGAGGGGAGGGGAGGG	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	23/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPRZ1_chr7_121868161_122067036	122050449	G G	GGAGGGGA others(38): Show GGAGGGGAAGGAAGGGGAGGGGAGGGGAAGGAAGGGGAGGGGAGGA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0265 a0004c0005t0001g0265	1	310	0.0032	45	c.608 others(62): Show c.6085-974_6085-973insGAAGGAAGGGGAGGGGAGGGGAAGGAAG GGGAGGGGAGGAGAGGG	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	23/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PUM1_chr1_30926506_31070717	30972284	A A	AAGGGGAG others(38): Show AAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	121	0.0083	45	c.150 others(64): Show c.1506+2322_1506+2366dupCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	6	0.1667	45	c.195 others(64): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PXMP2_chr12_132682587_132709985	132694017	A A	AGCCAGTT others(38): Show AGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCTCCCTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0144 a0001c0003t0003g0144	1	347	0.0029	45	c.237 others(62): Show c.237-1849_237-1848insTCCCTTAGCCAGTTAGTGAGCTCCCTTG CCAGTTAGTTAGTGAGC	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PZP_chr12_9143840_9213395	9185790	A A	ATTTCTTT others(38): Show ATTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp1 HG02723.hp1 others(1): Show HG02145.hp2 HG02622.hp1 HG02723.hp1 HG03471.hp1	a0001 a0021 a0032 a0001 a0021 a0032	a0001c0013 a0021c0027 a0032c0050 a0001c0013 a0021c0027 a0032c0050	a0001c0013t0001 a0021c0027t0001 a0032c0050t0001 a0001c0013t0001 a0021c0027t0001 a0032c0050t0001	a0001c0013t0001g0276 a0021c0027t0001g0028 a0032c0050t0001g0168 a0001c0013t0001g0276 a0021c0027t0001g0028 a0032c0050t0001g0168	4	156	0.0256	45	c.154 others(64): Show c.1547-3674_1547-3673insAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAA	PZP	ENSG00000126838.10	transcript	ENST00000261336.7	protein_coding	13/35			chr12	TogoVar
QPCT_chr2_37339630_37378322	37347151	T T	TATATATA others(38): Show TATATATATAATATATATATATATATATATATCATATATATATAAC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	434	0.0023	45	c.120 others(62): Show c.120+2309_120+2310insATATATATATATATATATATATCATATA TATATAACATATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QPCT_chr2_37339630_37378322	37347151	T T	TATATATA others(38): Show TATATATATGATATATATATATATATATATATCATATATATATAAC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	434	0.0023	45	c.120 others(62): Show c.120+2308_120+2309insGATATATATATATATATATATATCATAT ATATATAACATATATAT	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QPCT_chr2_37339630_37378322	37347155	T T	TATATATA others(38): Show TATATATATATATATATATAACATATATATAACATATATATATAAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0142 a0001c0003t0001g0142	1	430	0.0023	45	c.120 others(62): Show c.120+2313_120+2314insTATATATATAACATATATATAACATATA TATATAACATATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar

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