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
PDS5A_chr4_39817863_39982911	39842907	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	295	0.0034	34	c.354 others(51): Show c.3549-852_3549-851insTATATATATATATATATATATATATATA TATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842909	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02818.hp1 HG01928.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0042 a0001c0001t0006g0238 a0001c0001t0001g0042 a0001c0001t0006g0238	2	22	0.0909	34	c.354 others(51): Show c.3549-854_3549-853insTATATATATATATATATATATATATATA TATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655359	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0194 a0001c0001t0004g0194	1	284	0.0035	34	c.313 others(51): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATATAT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	117	0.0085	34	c.313 others(51): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT TTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	117	0.0085	34	c.313 others(51): Show c.313-2864_313-2863insATATATATATATATATATATTTTTTTTT TTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(27): Show ATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	117	0.0085	34	c.313 others(51): Show c.313-2864_313-2863insATATATATATATATATTTTTTTTTTTTT TTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(27): Show ATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	117	0.0085	34	c.313 others(51): Show c.313-2864_313-2863insATATATATTTTTTTTTTTTTTTTTTTTT TTTTTT	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(27): Show TTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG01099.hp1 others(14): Show HG00609.hp1 HG00735.hp1 HG01099.hp1 HG01891.hp2 HG02293.hp2 HG03239.hp1 HG04115.hp1 HG04199.hp2 NA18944.hp2 NA18955.hp2 NA18962.hp2 NA18965.hp2 NA18973.hp2 NA18980.hp1 NA18998.hp2 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0018 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0099 a0001c0001t0001g0136 a0001c0001t0001g0188 a0001c0001t0001g0210 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0235 a0001c0001t0001g0253 a0001c0001t0001g0375	17	142	0.1197	34	c.-46 others(45): Show c.-4633_-4632insTATATATATATATATATATATATATATATATATA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	126	0.0079	34	c.-46 others(45): Show c.-4633_-4632insTTTATATATATATATATATATATATATATATATA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18965.hp2 NA18998.hp1 others(1): Show NA18940.hp1 NA18965.hp2 NA18998.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0058 a0001c0001t0001g0004 a0001c0001t0001g0058	4	63	0.0635	34	c.163 others(49): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0255 a0001c0001t0004g0255	1	107	0.0093	34	c.296 others(53): Show c.296+29088_296+29089insATATATATATATATATATATATATAT ATATATTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107458412	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	75	0.0133	34	c.296 others(49): Show c.296+577_296+578insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDXDC1_chr16_14970026_15043332	14984476	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	189	0.0053	34	c.21+ others(49): Show c.21+9276_21+9277insATATATATATATATATATATATATATATAT ATAT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(27): Show GGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0209 a0001c0001t0061g0209	1	305	0.0033	34	c.143 others(49): Show c.143-497_143-496insCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741165	G G	GGGGGGCT others(27): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0084 a0001c0001t0009g0084	1	280	0.0036	34	c.143 others(49): Show c.143-497_143-496insCTCGCGGGGGGGCTCGCGGGGGGGCTCGCG GGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741188	G G	GGGGGGGC others(27): Show GGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	308	0.0032	34	c.143 others(49): Show c.143-462_143-461insCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741209	C C	CGCGGGGG others(27): Show CGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0312 a0001c0001t0006g0312	1	338	0.0030	34	c.143 others(49): Show c.143-448_143-447insGGCGGGGGGGCTCGCGGGGGGCTGGCGGGG GGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGGC others(27): Show GGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0210 a0001c0001t0004g0210	1	214	0.0047	34	c.143 others(49): Show c.143-203_143-202insAGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGGC others(27): Show GGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0096 a0001c0002t0003g0096	1	214	0.0047	34	c.143 others(49): Show c.143-193_143-192insCAGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTCG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741454	G G	GGGGGGCT others(27): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	308	0.0032	34	c.143 others(49): Show c.143-197_143-196insGCTCGCGGGGGGCTCGCAGGGGGCTCGCGG GGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD11_chrX_70281595_70294927	70290654	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	308	0.0032	34	c.-80 others(43): Show c.-809_-808insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PDZD11	ENSG00000120509.12	transcript	ENST00000239666.9	protein_coding		728		chrX	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19057.hp2 HG00544.hp1 NA19057.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0005 a0003c0004t0042 a0002c0003t0005 a0003c0004t0042	a0002c0003t0005g0016 a0003c0004t0042g0026 a0002c0003t0005g0016 a0003c0004t0042g0026	2	31	0.0645	34	c.-36 others(55): Show c.-361+49917_-361+49918insATATATATATATATATATATTTTT TTTTTCTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18906.hp1 NA19005.hp1 HG01884.hp2 NA18906.hp1 NA19005.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0003 a0005c0045 a0002c0002 a0002c0003 a0005c0045	a0002c0002t0008 a0002c0003t0005 a0005c0045t0038 a0002c0002t0008 a0002c0003t0005 a0005c0045t0038	a0002c0002t0008g0059 a0002c0003t0005g0017 a0005c0045t0038g0060 a0002c0002t0008g0059 a0002c0003t0005g0017 a0005c0045t0038g0060	3	32	0.0938	34	c.-36 others(55): Show c.-361+49917_-361+49918insATATATATATATATATATTTTTTT TTTTTCTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZRN4_chr12_41183320_41579745	41266310	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0118 a0001c0010t0004g0118	1	172	0.0058	34	c.843 others(53): Show c.843+72147_843+72148insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	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(27): Show GTATACATACATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0096 a0003c0006t0001g0096	1	36	0.0278	34	c.843 others(55): Show c.843+122864_843+122865insCATACATATATATATATATATATA TATATATATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAR1_chr1_156888718_156921429	156911115	C C	CTTTCTTT others(27): Show CTTTCTTTCCTTCCTTTCTTTCTTTTCTTTCTTCT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02258.hp1 HG02280.hp2 others(1): Show HG01952.hp1 HG02258.hp1 HG02280.hp2 HG03225.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0002 a0006c0049 a0009c0022 a0001c0002 a0006c0049 a0009c0022	a0001c0002t0003 a0006c0049t0001 a0009c0022t0002 a0001c0002t0003 a0006c0049t0001 a0009c0022t0002	a0001c0002t0003g0076 a0006c0049t0001g0153 a0009c0022t0002g0103 others(1): Show a0001c0002t0003g0076 a0006c0049t0001g0153 a0009c0022t0002g0103 a0009c0022t0002g0105	4	255	0.0157	34	c.195 others(51): Show c.1951+374_1951+375insTCTTTCCTTCCTTTCTTTCTTTTCTTTC TTCTTT	PEAR1	ENSG00000187800.14	transcript	ENST00000292357.8	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEBP4_chr8_22708251_22932914	22765826	G G	GTGGATCA others(27): Show GTGGATCACCGCCATTCATGGATCACCACCATTCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01257.hp2 HG01516.hp2 others(6): Show HG00280.hp2 HG01257.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02572.hp2 HG03225.hp1 HG04115.hp2 NA18964.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0004 a0004c0003 others(3): Show a0001c0001 a0003c0004 a0004c0003 a0004c0011 a0004c0013 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0003c0004t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0003c0004t0003 a0003c0004t0004 a0004c0003t0003 a0004c0011t0006 a0004c0013t0004 a0005c0006t0002	a0001c0001t0001g0051 a0001c0001t0002g0215 a0003c0004t0003g0054 others(6): Show a0001c0001t0001g0051 a0001c0001t0002g0215 a0003c0004t0003g0054 a0003c0004t0003g0141 a0003c0004t0004g0188 a0004c0003t0003g0140 a0004c0011t0006g0005 a0004c0013t0004g0247 a0005c0006t0002g0166	9	276	0.0326	34	c.358 others(53): Show c.358-38607_358-38606insTGAATGGTGGTGATCCATGAATGGCG GTGATCCA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PELI3_chr11_66461905_66482337	66463324	C C	CCAATCTT others(27): Show CCAATCTTTGTGTGGGGTTTGTCTTTTCGTTGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	394	0.0025	34	c.-37 others(45): Show c.-3705_-3704insCAATCTTTGTGTGGGGTTTGTCTTTTCGTTGGTG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		3580		chr11	TogoVar
PER3_chr1_7779291_7850177	7815991	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0132 a0001c0003t0001g0132	1	39	0.0256	34	c.152 others(53): Show c.1523-3268_1523-3267insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PERM1_chr1_970198_987093	977786	C C	CCCACCAA others(27): Show CCCACCAACCCGGGAACCGCCTCCCACTCCCCCCA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01168.hp2 NA19003.hp1 HG01070.hp2 HG01168.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0213 a0001c0001t0001g0019 a0001c0001t0001g0213	3	245	0.0122	34	c.214 others(53): Show c.2149+1094_2149+1095insTGGGGGGAGTGGGAGGCGGTTCCCGG GTTGGTGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977809	A A	ACCACCCC others(27): Show ACCACCCCGCCAACCCCGGGAACCGCCTCCCACTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0016 a0009c0013t0016	a0009c0013t0016g0181 a0009c0013t0016g0181	1	249	0.0040	34	c.214 others(53): Show c.2149+1071_2149+1072insGAGTGGGAGGCGGTTCCCGGGGTTGG CGGGGTGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERP_chr6_138083505_138112419	138086314	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01934.hp2 HG01978.hp1 others(6): Show HG00544.hp2 HG01934.hp2 HG01978.hp1 HG02004.hp1 HG02148.hp1 NA18990.hp2 NA18995.hp2 NA19082.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0001 a0001c0001t0022 a0002c0002t0005 others(3): Show a0001c0001t0001 a0001c0001t0022 a0002c0002t0005 a0002c0002t0011 a0002c0002t0038 a0002c0006t0023	a0001c0001t0001g0003 a0001c0001t0022g0088 a0002c0002t0005g0006 others(6): Show a0001c0001t0001g0003 a0001c0001t0022g0088 a0002c0002t0005g0006 a0002c0002t0005g0085 a0002c0002t0005g0182 a0002c0002t0005g0199 a0002c0002t0011g0009 a0002c0002t0038g0217 a0002c0006t0023g0058	9	204	0.0441	34	c.57 others(45): Show c.5727_*5728insATATATATATATATATATATATATATATATATAT	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding		2190		chr6	TogoVar
PEX11G_chr19_7471875_7494035	7474754	A A	AGTGTGTG others(27): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG03098.hp2 HG02896.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	2	221	0.0090	34	c.24 others(45): Show c.2447_*2448insACACACACACACACACACACACACACACACACAC	PEX11G	ENSG00000104883.8	transcript	ENST00000221480.6	protein_coding		2120		chr19	TogoVar
PEX1_chr7_92482025_92533520	92516065	G G	GAGAAGAG others(27): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0207 a0001c0002t0002g0207	1	292	0.0034	34	c.123 others(53): Show c.1239+1210_1239+1211insTTCTCTTCTCTTCTCTTCTCTTCTCT TCTCTTCT	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX5L_chr3_179789958_180041937	180024347	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG03831.hp2 NA19057.hp2 HG00733.hp1 HG03831.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 a0001c0001t0001 a0001c0001t0009 a0001c0001t0014	a0001c0001t0001g0088 a0001c0001t0009g0087 a0001c0001t0014g0064 a0001c0001t0001g0088 a0001c0001t0009g0087 a0001c0001t0014g0064	3	114	0.0263	34	c.21+ others(51): Show c.21+12231_21+12232insATATATATATATATATATATATATATAT ATATAT	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PEX5L_chr3_179789958_180041937	180024373	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02896.hp2 HG02622.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0038 a0001c0001t0025 a0001c0001t0038	a0001c0001t0025g0105 a0001c0001t0038g0104 a0001c0001t0025g0105 a0001c0001t0038g0104	2	202	0.0099	34	c.21+ others(51): Show c.21+12205_21+12206insGTGTATATATATATATATATATATATAT ATATAT	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PEX5L_chr3_179789958_180041937	180024373	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	201	0.0050	34	c.21+ others(51): Show c.21+12205_21+12206insGTATATATATATATATATATATATATAT ATATAT	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PFDN4_chr20_54203087_54224961	54223120	A A	ACCCCACA others(27): Show ACCCCACACACACCTGAGCCCCACACACACCTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	213	0.0047	34	c.39 others(45): Show c.3970_*3971insCCCCACACACACCTGAGCCCCACACACACCTGAG	PFDN4	ENSG00000101132.10	transcript	ENST00000371419.7	protein_coding		3160		chr20	TogoVar
PFKL_chr21_44295053_44332373	44330246	G G	GCTGCCCA others(27): Show GCTGCCCACAGTCTGCTGCACGGCCTCCAGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	390	0.0026	34	c.33 others(45): Show c.3384_*3385insCTGCCCACAGTCTGCTGCACGGCCTCCAGCCCCT	PFKL	ENSG00000141959.17	transcript	ENST00000349048.9	protein_coding		2874		chr21	TogoVar
PFKP_chr10_3062548_3141802	3095232	C C	CCGCACAT others(27): Show CCGCACATAGGTGAACTACGCGCATAGGTGAACTA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0028 a0001c0031t0001g0043 a0001c0031t0001g0028 a0001c0031t0001g0043	2	334	0.0060	34	c.187 others(51): Show c.187-4042_187-4041insGCACATAGGTGAACTACGCGCATAGGTG AACTAC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3095232	C C	CCGCGCAT others(27): Show CCGCGCATAGGTGAACTACGCGCATAGGTGAACTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00642.hp2 others(51): Show HG00280.hp1 HG00558.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG02056.hp1 HG02300.hp2 HG02451.hp1 HG02698.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04199.hp1 HG04204.hp1 NA18963.hp1 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18994.hp2 NA18999.hp2 NA19030.hp1 NA19081.hp2 NA19082.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0032 a0001c0033 a0001c0053 a0002c0013	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(29): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0003t0001 a0001c0003t0011 a0001c0004t0003 a0001c0004t0004 a0001c0004t0007 a0001c0005t0002 a0001c0006t0001 a0001c0006t0007 a0001c0007t0005 a0001c0008t0005 a0001c0011t0003 a0001c0012t0003 a0001c0012t0004 a0001c0015t0001 a0001c0015t0014 a0001c0016t0007 a0001c0017t0010 a0001c0018t0005 a0001c0019t0003 a0001c0020t0001 a0001c0020t0014 a0001c0032t0004 a0001c0033t0003 a0001c0053t0001 a0002c0013t0004	a0001c0001t0002g0007 a0001c0001t0002g0111 a0001c0001t0002g0192 others(51): Show a0001c0001t0002g0007 a0001c0001t0002g0111 a0001c0001t0002g0192 a0001c0001t0002g0267 a0001c0001t0006g0025 a0001c0001t0008g0148 a0001c0002t0002g0045 a0001c0002t0002g0335 a0001c0002t0003g0078 a0001c0002t0003g0109 a0001c0002t0003g0144 a0001c0002t0004g0026 a0001c0002t0004g0196 a0001c0002t0006g0226 a0001c0003t0001g0010 a0001c0003t0011g0053 a0001c0004t0003g0071 a0001c0004t0003g0072 a0001c0004t0003g0074 a0001c0004t0004g0358 a0001c0004t0007g0397 a0001c0004t0007g0398 a0001c0005t0002g0329 a0001c0006t0001g0036 a0001c0006t0001g0108 a0001c0006t0001g0117 a0001c0006t0007g0401 a0001c0007t0005g0011 a0001c0007t0005g0290 a0001c0007t0005g0332 a0001c0008t0005g0115 a0001c0011t0003g0059 a0001c0012t0003g0244 a0001c0012t0003g0248 a0001c0012t0004g0062 a0001c0015t0001g0029 a0001c0015t0001g0073 a0001c0015t0001g0075 a0001c0015t0014g0067 a0001c0016t0007g0058 a0001c0017t0010g0359 a0001c0018t0005g0070 a0001c0019t0003g0249 a0001c0020t0001g0321 a0001c0020t0014g0140 a0001c0032t0004g0194 a0001c0032t0004g0195 a0001c0033t0003g0077 a0001c0053t0001g0126 a0002c0013t0004g0006 a0002c0013t0004g0252 a0002c0013t0004g0253 a0002c0013t0004g0254 a0002c0013t0004g0334	54	386	0.1399	34	c.187 others(51): Show c.187-4042_187-4041insGCGCATAGGTGAACTACGCGCATAGGTG AACTAC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAM5_chr12_132705842_132727734	132725795	C C	CCTTTTAA others(27): Show CCTTTTAAAATGCGGCTTTTTAGAATAGCATGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0070 a0001c0001t0009g0070	1	392	0.0026	34	c.49 others(45): Show c.4967_*4968insCTTTTAAAATGCGGCTTTTTAGAATAGCATGTGT	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding		3062		chr12	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02965.hp2 HG02886.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0184 a0001c0001t0001g0189	2	244	0.0082	34	c.-35 others(45): Show c.-3543_-3542insATATATATATATATTTTTTTTTTTTTTTTTTTTT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	243	0.0041	34	c.-35 others(45): Show c.-3543_-3542insATATATATATATATATATTTTTTTTTTTTTTTTT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGAP4_chr9_101468170_101492173	101490702	G G	GTGGTGCC others(27): Show GTGGTGCCTTTCTTTTCTTGTTCCAGTTTCCAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	458	0.0022	34	c.-38 others(45): Show c.-3865_-3832dupAGCTGGAAACTGGAACAAGAAAAGAAAGGCACCA	PGAP4	ENSG00000165152.9	transcript	ENST00000374848.8	protein_coding		3530		chr9	TogoVar
PGAP4_chr9_101468170_101492173	101491822	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	457	0.0022	34	c.-49 others(45): Show c.-4952_-4951insGAATATATATATATATATATATATATATATATAT	PGAP4	ENSG00000165152.9	transcript	ENST00000374848.8	protein_coding		4650		chr9	TogoVar
PGM2L1_chr11_74325316_74403433	74383824	A A	AATAAATA others(27): Show AATAAATAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03471.hp2 others(2): Show HG02896.hp1 HG02897.hp2 HG03471.hp2 HG03831.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0049 a0002c0002t0004 a0001c0004t0049 a0002c0002t0004	a0001c0004t0049g0153 a0002c0002t0004g0011 a0002c0002t0004g0191 others(1): Show a0001c0004t0049g0153 a0002c0002t0004g0011 a0002c0002t0004g0191 a0002c0002t0004g0196	5	75	0.0667	34	c.112 others(51): Show c.112-9243_112-9242insATATATATATATATATATATATATATTT ATTTAT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	1/13			chr11	TogoVar
PGM2L1_chr11_74325316_74403433	74383824	A A	AATAAATA others(27): Show AATAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0195 a0002c0002t0004g0195	1	71	0.0141	34	c.112 others(51): Show c.112-9243_112-9242insATATATATATATATATATATATATATAT ATTTAT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	1/13			chr11	TogoVar
PGM2L1_chr11_74325316_74403433	74383824	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0295 a0002c0002t0004g0295	1	71	0.0141	34	c.112 others(51): Show c.112-9243_112-9242insATATATATATATATATATATATATATAT ATATAT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	1/13			chr11	TogoVar
PGM2_chr4_37821686_37867937	37841072	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0369 a0001c0001t0001g0369	1	180	0.0056	34	c.719 others(49): Show c.719+842_719+843insATATATATATATATATATATATATATATAT ATAT	PGM2	ENSG00000169299.14	transcript	ENST00000381967.9	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr4	TogoVar

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