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
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(21): Show ATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	334	0.0030	28	c.313 others(45): Show c.313-2864_313-2863insATATATATATATTTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01433.hp1 HG01516.hp2 others(14): Show HG00408.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp2 HG02293.hp1 HG04115.hp2 NA18960.hp1 NA18963.hp1 NA18984.hp2 NA18993.hp1 NA19060.hp2 NA19068.hp1 NA19084.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0016 others(13): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0002g0119 a0001c0001t0007g0044	17	416	0.0409	28	c.-46 others(39): Show c.-4633_-4632insTATATATATATATATATATATATATATA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA18612.hp1 NA18975.hp2 others(5): Show HG03492.hp1 NA18612.hp1 NA18975.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19088.hp1 NA20905.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0001 a0009c0008t0001 a0001c0001t0001 a0009c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0059 a0001c0001t0001g0060 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0168 a0001c0001t0001g0228 a0009c0008t0001g0371	8	416	0.0192	28	c.163 others(43): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS1_chr10_26692701_26751798	26704099	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	416	0.0024	28	c.163 others(43): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAAAATAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107173572	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	260	0.0039	28	c.104 others(49): Show c.1042-18796_1042-18795insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	7/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107225153	A A	ATATATTT others(21): Show ATATATTTATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0232 a0001c0001t0006g0231 a0001c0001t0005g0232 a0001c0001t0006g0231	2	260	0.0077	28	c.703 others(47): Show c.703-12872_703-12871insAATATATATATATATATATATAAATA TA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107225153	A A	ATATTTAT others(21): Show ATATTTATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02965.hp1 HG01884.hp1 HG02258.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0229 a0001c0001t0001g0239 a0001c0001t0001g0240	3	260	0.0115	28	c.703 others(47): Show c.703-12872_703-12871insAATATATATATATATATATATATAAA TA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107225155	A A	ATATTTAT others(21): Show ATATTTATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0233 a0001c0001t0005g0233	1	260	0.0039	28	c.703 others(47): Show c.703-12874_703-12873insAATATATATATATATATATATATAAA TA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429899	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	260	0.0039	28	c.296 others(47): Show c.296+29090_296+29091insATATATATATATATATATATATATAT AT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	260	0.0039	28	c.296 others(47): Show c.296+29088_296+29089insATATATATATATATATTTTTTTTTTT TT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	260	0.0039	28	c.296 others(47): Show c.296+29088_296+29089insATATATATATATATATATATTTTTTT TT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	260	0.0039	28	c.296 others(47): Show c.296+29088_296+29089insATATATATATATATATATATATTTTT TT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	260	0.0039	28	c.296 others(47): Show c.296+29088_296+29089insATATATATATATATATATATATATTT TT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0247 a0001c0001t0004g0247	1	260	0.0039	28	c.296 others(47): Show c.296+29088_296+29089insATATATATATATATATATATATATAT TT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	260	0.0039	28	c.296 others(47): Show c.296+29061_296+29088dupATATATATATATATATATATATATAT AT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDXDC1_chr16_14970026_15043332	14984476	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01123.hp1 HG01952.hp2 others(4): Show HG00738.hp2 HG01123.hp1 HG01952.hp2 HG02004.hp2 HG02148.hp2 NA18973.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0017 a0002c0002t0001g0019 others(3): Show a0002c0002t0001g0001 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0053 a0002c0002t0001g0098	7	279	0.0251	28	c.21+ others(43): Show c.21+9276_21+9277insATATATATATATATATATATATATATAT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXDC1_chr16_14970026_15043332	14984495	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18956.hp2 HG02976.hp2 NA18956.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0013 a0002c0002 a0010c0013	a0002c0002t0001 a0010c0013t0008 a0002c0002t0001 a0010c0013t0008	a0002c0002t0001g0058 a0010c0013t0008g0096 a0002c0002t0001g0058 a0010c0013t0008g0096	2	279	0.0072	28	c.21+ others(43): Show c.21+9276_21+9277insATATATATATATATATATATATATATTT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDZD2_chr5_31634131_32115932	31691451	G G	GCCTGCTT others(21): Show GCCTGCTTTTATTCTCTTATCTGGCGCCA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0010 a0004c0006t0010	a0004c0006t0010g0206 a0004c0006t0010g0206	1	216	0.0046	28	c.-36 others(49): Show c.-361+52032_-361+52033insTCTGGCGCCACCTGCTTTTATTCT CTTA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31691499	C C	CTGGCGCC others(21): Show CTGGCGCCACCTGCTTTTATTCTCTTATG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01884.hp1 HG02055.hp1 others(15): Show HG01192.hp2 HG01884.hp1 HG02055.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02647.hp2 HG02818.hp1 HG02896.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 NA18522.hp1 NA21309.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0006 a0007 a0009 a0015 a0021 a0026	a0001c0001 a0001c0007 a0001c0024 others(9): Show a0001c0001 a0001c0007 a0001c0024 a0002c0003 a0004c0029 a0005c0009 a0006c0015 a0007c0013 a0009c0014 a0015c0033 a0021c0042 a0026c0046	a0001c0001t0001 a0001c0001t0008 a0001c0001t0041 others(12): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0041 a0001c0007t0009 a0001c0007t0047 a0001c0024t0007 a0002c0003t0002 a0004c0029t0049 a0005c0009t0013 a0006c0015t0040 a0007c0013t0004 a0009c0014t0004 a0015c0033t0007 a0021c0042t0014 a0026c0046t0014	a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0008g0068 others(15): Show a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0008g0068 a0001c0001t0008g0181 a0001c0001t0041g0210 a0001c0007t0009g0058 a0001c0007t0009g0142 a0001c0007t0047g0035 a0001c0024t0007g0046 a0002c0003t0002g0197 a0004c0029t0049g0001 a0005c0009t0013g0167 a0006c0015t0040g0213 a0007c0013t0004g0198 a0009c0014t0004g0178 a0015c0033t0007g0072 a0021c0042t0014g0187 a0026c0046t0014g0157	18	216	0.0833	28	c.-36 others(49): Show c.-361+52089_-361+52090insGTGGCGCCACCTGCTTTTATTCTC TTAT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31691527	C C	CTGGCGCC others(21): Show CTGGCGCCACCTGCTTTTATTCTCTTATG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0003 a0002c0012t0003	a0002c0012t0003g0011 a0002c0012t0003g0011	1	216	0.0046	28	c.-36 others(49): Show c.-361+52117_-361+52118insGTGGCGCCACCTGCTTTTATTCTC TTAT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31691604	C C	CTCTTATC others(21): Show CTCTTATCTGGCGCCACCTGCTTTTATTA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0003 a0002c0012t0003	a0002c0012t0003g0011 a0002c0012t0003g0011	1	216	0.0046	28	c.-36 others(49): Show c.-361+52178_-361+52179insGCCACCTGCTTTTATTATCTTATC TGGC	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31849981	T T	TATATATA others(21): Show TATATATATATACACATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18989.hp2 NA18964.hp2 NA18989.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0002 a0001c0001t0001 a0003c0004t0002	a0001c0001t0001g0136 a0003c0004t0002g0074 a0001c0001t0001g0136 a0003c0004t0002g0074	2	216	0.0093	28	c.476 others(47): Show c.476+50259_476+50286dupTATATATATACACATATATATATATA CA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31878555	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0040 a0001c0001t0010g0040	1	216	0.0046	28	c.476 others(47): Show c.476+78855_476+78856insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31989420	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTTTTTTTATTTA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0033 a0033	a0033c0058 a0033c0058	a0033c0058t0001 a0033c0058t0001	a0033c0058t0001g0135 a0033c0058t0001g0135	1	216	0.0046	28	c.978 others(45): Show c.978+5764_978+5765insTTTTTTTTTTTTTTTTTTTTTTTATTTA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24			chr5	TogoVar
PDZD2_chr5_31634131_32115932	31989424	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03225.hp2 NA18964.hp2 others(1): Show HG02145.hp2 HG03225.hp2 NA18964.hp2 NA19011.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0004 a0004c0029 others(1): Show a0001c0001 a0003c0004 a0004c0029 a0005c0009	a0001c0001t0001 a0003c0004t0004 a0004c0029t0049 others(1): Show a0001c0001t0001 a0003c0004t0004 a0004c0029t0049 a0005c0009t0009	a0001c0001t0001g0136 a0003c0004t0004g0122 a0004c0029t0049g0001 others(1): Show a0001c0001t0001g0136 a0003c0004t0004g0122 a0004c0029t0049g0001 a0005c0009t0009g0063	4	216	0.0185	28	c.978 others(45): Show c.978+5784_978+5785insTTTATTTATTTATTTTTTTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31989425	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0069 a0002c0002t0025g0069	1	216	0.0046	28	c.978 others(45): Show c.978+5784_978+5785insTTTTATTTATTTATTTTTTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD7_chr10_101002679_101036129	101017891	G G	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	432	0.0023	28	c.152 others(45): Show c.1522+207_1522+208insTTTCTTTCTTTCTTTCTTTCTTTCTTTC	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZRN3_chr3_73377431_73629941	73562983	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA19063.hp2 HG01952.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0033 a0002c0003t0001g0111 a0001c0001t0001g0033 a0002c0003t0001g0111	2	216	0.0093	28	c.918 others(47): Show c.918+39343_918+39370dupTATATATATATATATATATATATATA TA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73563013	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0076 a0002c0003t0001g0076	1	216	0.0046	28	c.918 others(47): Show c.918+39340_918+39341insAATATATATATATATATATATATATA TA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73563013	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0063 a0002c0003t0001g0063	1	216	0.0046	28	c.918 others(47): Show c.918+39340_918+39341insAAAATATATATATATATATATATATA TA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73600337	A A	ACACACAC others(21): Show ACACACACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0187 a0001c0013t0002g0187	1	216	0.0046	28	c.918 others(45): Show c.918+2016_918+2017insAGAGAGAGAGAGAGAGAGAGAGTGTGTG	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41214430	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG04228.hp2 NA18945.hp1 others(2): Show HG01175.hp2 HG04228.hp2 NA18945.hp1 NA19012.hp1 NA19056.hp1	a0001 a0004 a0026 a0001 a0004 a0026	a0001c0001 a0001c0004 a0004c0005 others(1): Show a0001c0001 a0001c0004 a0004c0005 a0026c0046	a0001c0001t0002 a0001c0004t0001 a0004c0005t0001 others(1): Show a0001c0001t0002 a0001c0004t0001 a0004c0005t0001 a0026c0046t0001	a0001c0001t0002g0045 a0001c0004t0001g0046 a0001c0004t0001g0069 others(2): Show a0001c0001t0002g0045 a0001c0004t0001g0046 a0001c0004t0001g0069 a0004c0005t0001g0071 a0026c0046t0001g0070	5	206	0.0243	28	c.843 others(47): Show c.843+20262_843+20263insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41266310	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0116 a0001c0010t0002g0116	1	206	0.0049	28	c.843 others(47): Show c.843+72147_843+72148insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41317048	G G	GTATACAT others(21): Show GTATACATACATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00738.hp1 others(9): Show HG00099.hp1 HG00280.hp1 HG00738.hp1 HG01175.hp2 HG02280.hp2 HG02486.hp1 HG02735.hp2 HG02922.hp1 HG03098.hp2 NA18964.hp2 NA18978.hp2 NA18981.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0024	a0001c0001 a0002c0002 a0002c0015 others(6): Show a0001c0001 a0002c0002 a0002c0015 a0002c0016 a0002c0017 a0002c0022 a0004c0009 a0007c0018 a0024c0045	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(7): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0015t0002 a0002c0016t0001 a0002c0017t0002 a0002c0022t0001 a0004c0009t0001 a0007c0018t0001 a0024c0045t0002	a0001c0001t0002g0045 a0001c0001t0002g0156 a0002c0002t0001g0168 others(9): Show a0001c0001t0002g0045 a0001c0001t0002g0156 a0002c0002t0001g0168 a0002c0002t0002g0159 a0002c0015t0002g0138 a0002c0016t0001g0171 a0002c0017t0002g0019 a0002c0022t0001g0141 a0004c0009t0001g0005 a0004c0009t0001g0095 a0007c0018t0001g0129 a0024c0045t0002g0073	12	206	0.0583	28	c.843 others(49): Show c.843+122864_843+122865insCATACATATATATATATATATATA TATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41317048	G G	GTATACAT others(21): Show GTATACATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18968.hp1 HG03017.hp1 NA18968.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0007 a0003c0003 a0005c0007	a0003c0003t0001 a0005c0007t0001 a0003c0003t0001 a0005c0007t0001	a0003c0003t0001g0106 a0005c0007t0001g0165 a0003c0003t0001g0106 a0005c0007t0001g0165	2	206	0.0097	28	c.843 others(49): Show c.843+122864_843+122865insCATATATATATATATATATATATA TATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77250175	G G	GTATATGT others(21): Show GTATATGTATATATATACATATATACATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02976.hp2 HG02280.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0055 a0001c0001t0054 a0001c0001t0055	a0001c0001t0054g0302 a0001c0001t0055g0303 a0001c0001t0054g0302 a0001c0001t0055g0303	2	326	0.0061	28	c.-11 others(47): Show c.-115+2191_-115+2192insTATGTATATATGTATATATATACATA TA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77298197	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	326	0.0031	28	c.-60 others(49): Show c.-602-11721_-602-11694dupAAAAAAAAAAAAAAAAAAAAAAAA AAAA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77313708	A A	ATATATAT others(21): Show ATATATATATATATATATATGTATGTATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0036 a0001c0004t0036	a0001c0004t0036g0305 a0001c0004t0036g0305	1	326	0.0031	28	c.-60 others(49): Show c.-602-27205_-602-27204insCATACATACATATATATATATATA TATA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77313708	A A	ATATATAT others(21): Show ATATATATATATATATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0186 a0001c0004t0035g0186	1	326	0.0031	28	c.-60 others(49): Show c.-602-27205_-602-27204insCATACATACATACATATATATATA TATA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77369693	T T	TTAATTCA others(21): Show TTAATTCATTATAAATAATTAATAATTCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp2 HG02895.hp1 others(3): Show HG02257.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG03130.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0020 a0001c0001t0041 a0001c0001t0007 a0001c0001t0020 a0001c0001t0041	a0001c0001t0007g0205 a0001c0001t0007g0260 a0001c0001t0020g0187 others(3): Show a0001c0001t0007g0205 a0001c0001t0007g0260 a0001c0001t0020g0187 a0001c0001t0020g0188 a0001c0001t0020g0247 a0001c0001t0041g0206	6	326	0.0184	28	c.-66 others(47): Show c.-665-4469_-665-4468insTGAATTATTAATTATTTATAATGAAT TA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	1/9			chr15	TogoVar
PEBP1_chr12_118131124_118150584	118133224	T T	TTCATTTC others(21): Show TTCATTTCATTTCATTTCATTTCATTTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 NA18947.hp2 NA18950.hp2 others(1): Show HG02071.hp2 NA18947.hp2 NA18950.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0069 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0069	4	426	0.0094	28	c.-29 others(39): Show c.-2986_-2985insTCATTTCATTTCATTTCATTTCATTTCA	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding		2899		chr12	TogoVar
PEBP4_chr8_22708251_22932914	22728559	T T	TCTTCCTT others(21): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18966.hp2 NA20129.hp1 HG03041.hp1 NA18966.hp2 NA20129.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0004 a0002c0002t0001 a0003c0004t0004	a0002c0002t0001g0041 a0002c0002t0001g0126 a0003c0004t0004g0195 a0002c0002t0001g0041 a0002c0002t0001g0126 a0003c0004t0004g0195	3	278	0.0108	28	c.358 others(45): Show c.358-1367_358-1340dupGAAGGAAGGAAGGAAGGAAGGAAGGAAG	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PECAM1_chr17_64314415_64395860	64361129	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp2 HG01891.hp2 others(1): Show HG01099.hp1 HG01884.hp2 HG01891.hp2 HG02965.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0006 a0004c0008t0006	a0004c0008t0006g0114 a0004c0008t0006g0115 a0004c0008t0006g0116 others(1): Show a0004c0008t0006g0114 a0004c0008t0006g0115 a0004c0008t0006g0116 a0004c0008t0006g0118	4	288	0.0139	28	c.121 others(45): Show c.1217-742_1217-715dupCACACACACACACACACACACACACACA	PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding	6/15			chr17	TogoVar
PECAM1_chr17_64314415_64395860	64377617	A A	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp1 HG02818.hp1 others(3): Show HG02451.hp2 HG02723.hp1 HG02818.hp1 HG03041.hp1 HG03225.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0005 a0001c0004t0001 a0001c0004t0015 others(3): Show a0001c0001t0005 a0001c0004t0001 a0001c0004t0015 a0001c0004t0025 a0001c0004t0029 a0003c0005t0004	a0001c0001t0005g0157 a0001c0004t0001g0132 a0001c0004t0015g0159 others(3): Show a0001c0001t0005g0157 a0001c0004t0001g0132 a0001c0004t0015g0159 a0001c0004t0025g0144 a0001c0004t0029g0133 a0003c0005t0004g0150	6	288	0.0208	28	c.385 others(43): Show c.385+206_385+207insCCTTCCTTCCTTCCTTCCTTCCTTCCTT	PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding	3/15			chr17	TogoVar
PECR_chr2_216033388_216086809	216042949	G G	GTGTATAT others(21): Show GTGTATATATATATATATACATACGTATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp2 HG01433.hp1 others(1): Show HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0262 a0001c0001t0004g0266 a0001c0001t0004g0373 others(1): Show a0001c0001t0004g0262 a0001c0001t0004g0266 a0001c0001t0004g0373 a0001c0001t0004g0374	4	398	0.0101	28	c.826 others(43): Show c.826+954_826+955insTATACGTATGTATATATATATATATACA	PECR	ENSG00000115425.14	transcript	ENST00000265322.8	protein_coding	7/7			chr2	TogoVar
PEPD_chr19_33381950_33526791	33422818	A A	ATATCTAT others(21): Show ATATCTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG01081.hp2 others(13): Show HG00099.hp1 HG00733.hp2 HG01081.hp2 HG01175.hp1 HG01243.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02300.hp1 HG02818.hp1 HG02976.hp1 NA18950.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA19240.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0004c0006 a0010c0011	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0002c0002t0002 a0002c0002t0005 a0004c0006t0001 a0010c0011t0001	a0001c0001t0001g0092 a0001c0001t0003g0183 a0001c0003t0001g0084 others(13): Show a0001c0001t0001g0092 a0001c0001t0003g0183 a0001c0003t0001g0084 a0001c0003t0001g0103 a0001c0003t0001g0127 a0002c0002t0002g0045 a0002c0002t0002g0108 a0002c0002t0002g0172 a0002c0002t0002g0182 a0002c0002t0002g0185 a0002c0002t0002g0205 a0002c0002t0002g0209 a0002c0002t0002g0254 a0002c0002t0005g0083 a0004c0006t0001g0169 a0010c0011t0001g0086	16	314	0.0510	28	c.672 others(45): Show c.672-9176_672-9175insGATAGATAGATAGATAGATAGATAGATA	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PER3_chr1_7779291_7850177	7815991	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18947.hp2 HG02135.hp1 NA18947.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0136 a0001c0003t0004g0100 a0001c0003t0001g0136 a0001c0003t0004g0100	2	410	0.0049	28	c.152 others(47): Show c.1523-3268_1523-3267insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PERM1_chr1_970198_987093	977501	C C	CCCCCCGC others(21): Show CCCCCCGCAACCCCGGGAACCGCCTCCCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02896.hp2 HG02897.hp2 HG02145.hp2 HG02896.hp2 HG02897.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0046 a0002c0011t0002g0239 a0002c0011t0002g0046 a0002c0011t0002g0239	3	408	0.0074	28	c.215 others(45): Show c.2150-878_2150-877insTGGGAGGCGGTTCCCGGGGTTGCGGGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERP_chr6_138083505_138112419	138086314	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG00621.hp2 others(19): Show HG00558.hp1 HG00597.hp2 HG00621.hp2 HG01106.hp2 HG01934.hp1 HG02135.hp2 HG02165.hp2 HG02523.hp2 HG03017.hp1 HG03710.hp1 NA18522.hp1 NA18944.hp1 NA18944.hp2 NA18962.hp2 NA18971.hp1 NA18994.hp1 NA19005.hp2 NA19074.hp1 NA19075.hp1 NA19077.hp2 NA19081.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0022 a0001c0001t0035 a0001c0001t0047 a0001c0001t0051 a0002c0002t0005 a0002c0002t0011	a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0181 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0181 a0001c0001t0004g0004 a0001c0001t0004g0010 a0001c0001t0008g0054 a0001c0001t0009g0013 a0001c0001t0009g0016 a0001c0001t0009g0240 a0001c0001t0018g0134 a0001c0001t0022g0034 a0001c0001t0035g0137 a0001c0001t0035g0197 a0001c0001t0047g0219 a0001c0001t0051g0105 a0002c0002t0005g0055 a0002c0002t0005g0086 a0002c0002t0005g0111 a0002c0002t0011g0009	22	430	0.0512	28	c.57 others(39): Show c.5727_*5728insATATATATATATATATATATATATATAT	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding		2190		chr6	TogoVar
PEX10_chr1_2398974_2417564	2412642	G G	GCTTGGAG others(21): Show GCTTGGAGGCGGGGGCCCGGGACTGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0018 a0005c0016t0018	a0005c0016t0018g0126 a0005c0016t0018g0126	1	358	0.0028	28	c.-14 others(37): Show c.-141_-140insGCCCCAGTCCCGGGCCCCCGCCTCCAAG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		79		chr1	TogoVar

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