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
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	260	0.0039	22	c.296 others(41): Show c.296+29088_296+29089insATATATATATATATATTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429937	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	260	0.0039	22	c.296 others(41): Show c.296+29052_296+29053insGTATATATATATATATATATAT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDXDC1_chr16_14970026_15043332	14975560	G G	GGGAGCTC others(15): Show GGGAGCTCTCCGTTGGCGGCCCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0275 a0001c0001t0005g0275	1	279	0.0036	22	c.21+ others(35): Show c.21+341_21+362dupGGAGCTCTCCGTTGGCGGCCCC	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXDC1_chr16_14970026_15043332	14984476	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02015.hp1 HG03942.hp1 others(9): Show HG00280.hp2 HG02015.hp1 HG03942.hp1 NA18946.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18963.hp2 NA18968.hp2 NA18990.hp1 NA19001.hp1 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 others(1): Show a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 a0002c0004t0003	a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0028 others(9): Show a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0054 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0008g0100 a0002c0002t0008g0101 a0002c0002t0008g0103 a0002c0002t0008g0105 a0002c0002t0009g0013 a0002c0004t0003g0061	12	279	0.0430	22	c.21+ others(37): Show c.21+9276_21+9277insATATATATATATATATATATAT	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(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 NA18951.hp1 others(1): Show HG00642.hp2 HG01081.hp1 NA18951.hp1 NA19079.hp1	a0002 a0006 a0007 a0002 a0006 a0007	a0002c0002 a0002c0004 a0006c0008 others(1): Show a0002c0002 a0002c0004 a0006c0008 a0007c0015	a0002c0002t0001 a0002c0004t0006 a0006c0008t0001 others(1): Show a0002c0002t0001 a0002c0004t0006 a0006c0008t0001 a0007c0015t0001	a0002c0002t0001g0036 a0002c0004t0006g0047 a0006c0008t0001g0082 others(1): Show a0002c0002t0001g0036 a0002c0004t0006g0047 a0006c0008t0001g0082 a0007c0015t0001g0037	4	279	0.0143	22	c.21+ others(37): Show c.21+9276_21+9277insATATATATATATATATATATTT	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(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG04228.hp1 NA18941.hp1 HG02886.hp1 HG04228.hp1 NA18941.hp1	a0002 a0006 a0008 a0002 a0006 a0008	a0002c0004 a0006c0008 a0008c0012 a0002c0004 a0006c0008 a0008c0012	a0002c0004t0006 a0006c0008t0022 a0008c0012t0001 a0002c0004t0006 a0006c0008t0022 a0008c0012t0001	a0002c0004t0006g0016 a0006c0008t0022g0087 a0008c0012t0001g0086 a0002c0004t0006g0016 a0006c0008t0022g0087 a0008c0012t0001g0086	3	279	0.0108	22	c.21+ others(37): Show c.21+9276_21+9277insATATATATATATATATATTTTT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXK_chr21_43714129_43767299	43735335	G G	GGGCTCCG others(15): Show GGGCTCCGTCAGTGCTGGTTCAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	358	0.0028	22	c.142 others(39): Show c.142+1213_142+1234dupGGCTCCGTCAGTGCTGGTTCAA	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(15): Show GGCGGGGGGCTCGCGGGGGGCTC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0116 a0001c0001t0091g0116	1	358	0.0028	22	c.143 others(37): Show c.143-497_143-496insCTCGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(15): Show GGCGGGGGGCTGGCGGGGGGCTC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0004 a0001c0003t0008g0004	1	358	0.0028	22	c.143 others(37): Show c.143-506_143-505insGGCGGGGGGCTCGCGGGGGGCT	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(15): Show GGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02109.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0213 a0001c0001t0005g0209 a0001c0001t0004g0213 a0001c0001t0005g0209	2	358	0.0056	22	c.143 others(37): Show c.143-497_143-496insCTCGCGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741234	G G	GGGGGGCT others(15): Show GGGGGGCTGGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0143 a0001c0002t0018g0143	1	358	0.0028	22	c.143 others(37): Show c.143-428_143-427insCTGGCGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741268	G G	GGGGGGGC others(15): Show GGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0236 a0001c0003t0008g0236	1	358	0.0028	22	c.143 others(37): Show c.143-382_143-381insCTCGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741292	G G	GGGGGGCT others(15): Show GGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0109 a0001c0001t0035g0109	1	358	0.0028	22	c.143 others(37): Show c.143-370_143-369insCTCGCGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741315	G G	GGGGGGCT others(15): Show GGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	358	0.0028	22	c.143 others(37): Show c.143-347_143-346insCTCGCGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741338	G G	GGGGGGCT others(15): Show GGGGGGCTGGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	358	0.0028	22	c.143 others(37): Show c.143-324_143-323insCTGGCGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741350	G G	GGGGGGCT others(15): Show GGGGGGCTCGCGGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0047 a0001c0001t0023g0047	1	358	0.0028	22	c.143 others(37): Show c.143-312_143-311insCTCGCGGGGGGCTCGCAGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741350	G G	GGGGGGGC others(15): Show GGGGGGGCTGGCGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0265 a0001c0001t0092g0265	1	358	0.0028	22	c.143 others(37): Show c.143-309_143-308insGGCGGGGGGCTGGCGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741395	G G	GGGGGGCT others(15): Show GGGGGGCTCGCAGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	358	0.0028	22	c.143 others(37): Show c.143-267_143-266insCTCGCAGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741407	G G	GGGGGGGC others(15): Show GGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02293.hp1 NA18990.hp1 HG01496.hp1 HG02293.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0002g0148 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0002g0148	3	358	0.0084	22	c.143 others(37): Show c.143-243_143-242insCTCGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741419	G G	GGGGGGCT others(15): Show GGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0088 a0001c0002t0003g0088	1	358	0.0028	22	c.143 others(37): Show c.143-243_143-242insCTCGCGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGCT others(15): Show GGGGGGCTCGCGGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02258.hp1 NA19066.hp2 HG01175.hp1 HG02258.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0028 a0001c0001t0001 a0001c0001t0002 a0001c0002t0028	a0001c0001t0001g0072 a0001c0001t0002g0120 a0001c0002t0028g0074 a0001c0001t0001g0072 a0001c0001t0002g0120 a0001c0002t0028g0074	3	358	0.0084	22	c.143 others(37): Show c.143-220_143-219insCTCGCGGGGGGCTCGCAGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGCT others(15): Show GGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01106.hp2 HG01346.hp1 others(6): Show HG00673.hp1 HG01106.hp2 HG01346.hp1 HG01361.hp2 HG02698.hp1 NA18965.hp2 NA19070.hp2 NA19080.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0042 a0001c0001t0048 a0001c0001t0093	a0001c0001t0001g0085 a0001c0001t0002g0131 a0001c0001t0002g0163 others(6): Show a0001c0001t0001g0085 a0001c0001t0002g0131 a0001c0001t0002g0163 a0001c0001t0002g0192 a0001c0001t0002g0314 a0001c0001t0010g0005 a0001c0001t0042g0334 a0001c0001t0048g0152 a0001c0001t0093g0094	9	358	0.0251	22	c.143 others(37): Show c.143-220_143-219insCTCGCGGGGGGGCTCGCGGGGG	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(15): Show GGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0243 a0001c0001t0009g0243	1	358	0.0028	22	c.143 others(37): Show c.143-214_143-193dupCGGGGGGCTCGCGGGGGGCTCG	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(15): Show GGGGGGCTCGCGGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18942.hp2 NA18948.hp2 others(1): Show HG02027.hp2 NA18942.hp2 NA18948.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0045 a0001c0001t0002 a0001c0001t0045	a0001c0001t0002g0151 a0001c0001t0002g0294 a0001c0001t0002g0354 others(1): Show a0001c0001t0002g0151 a0001c0001t0002g0294 a0001c0001t0002g0354 a0001c0001t0045g0022	4	358	0.0112	22	c.143 others(37): Show c.143-193_143-192insCAGGGGGCTCGCGGGGGGCTCG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741465	G G	GGGGGGCT others(15): Show GGGGGGCTCGCGGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03225.hp1 HG01496.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0039 a0001c0003t0102 a0001c0003t0039 a0001c0003t0102	a0001c0003t0039g0337 a0001c0003t0102g0012 a0001c0003t0039g0337 a0001c0003t0102g0012	2	358	0.0056	22	c.143 others(37): Show c.143-193_143-192insCGGGGGGCTCGCAGGGGGCTCG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741470	G G	GCTCGCGG others(15): Show GCTCGCGGGGAGCTCGCGGGGGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01168.hp2 HG01169.hp2 others(13): Show HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01433.hp1 HG01981.hp2 HG02698.hp2 HG02735.hp2 HG03491.hp2 HG03579.hp2 HG03669.hp2 HG04228.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0020 a0001c0001t0023 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0085	a0001c0001t0003g0330 a0001c0001t0005g0029 a0001c0001t0005g0048 others(13): Show a0001c0001t0003g0330 a0001c0001t0005g0029 a0001c0001t0005g0048 a0001c0001t0005g0129 a0001c0001t0005g0168 a0001c0001t0005g0343 a0001c0001t0012g0258 a0001c0001t0012g0259 a0001c0001t0012g0262 a0001c0001t0012g0263 a0001c0001t0020g0035 a0001c0001t0023g0047 a0001c0001t0075g0033 a0001c0001t0076g0030 a0001c0001t0077g0039 a0001c0001t0085g0329	16	358	0.0447	22	c.143 others(37): Show c.143-193_143-192insCGGGGAGCTCGCGGGGGTCTCG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18522.hp1 HG01884.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0045 a0001c0001t0008g0181 a0001c0001t0001g0045 a0001c0001t0008g0181	2	216	0.0093	22	c.-36 others(43): Show c.-361+49917_-361+49918insATATATATATATATTTTTTTTT	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(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19043.hp1 HG02280.hp2 NA19043.hp1	a0004 a0006 a0004 a0006	a0004c0041 a0006c0015 a0004c0041 a0006c0015	a0004c0041t0031 a0006c0015t0040 a0004c0041t0031 a0006c0015t0040	a0004c0041t0031g0114 a0006c0015t0040g0213 a0004c0041t0031g0114 a0006c0015t0040g0213	2	216	0.0093	22	c.-36 others(43): Show c.-361+49917_-361+49918insATATATATATATTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31694792	T T	TTATTTTA others(15): Show TTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02040.hp2 HG02486.hp2 others(3): Show HG00673.hp2 HG02040.hp2 HG02486.hp2 HG02698.hp1 HG03654.hp1 NA18979.hp2	a0001 a0002 a0023 a0001 a0002 a0023	a0001c0001 a0002c0003 a0023c0048 a0001c0001 a0002c0003 a0023c0048	a0001c0001t0006 a0001c0001t0021 a0002c0003t0005 others(2): Show a0001c0001t0006 a0001c0001t0021 a0002c0003t0005 a0002c0003t0011 a0023c0048t0002	a0001c0001t0006g0070 a0001c0001t0006g0116 a0001c0001t0021g0149 others(3): Show a0001c0001t0006g0070 a0001c0001t0006g0116 a0001c0001t0021g0149 a0002c0003t0005g0018 a0002c0003t0011g0110 a0023c0048t0002g0062	6	216	0.0278	22	c.-36 others(43): Show c.-361+55355_-361+55356insTATTTTATTTTATTTTATTTTA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24			chr5	TogoVar
PDZD2_chr5_31634131_32115932	31816287	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0106 a0002c0002t0002g0106	1	216	0.0046	22	c.476 others(41): Show c.476+16578_476+16579insAAAAAAAAAAAAAAAAAAAAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31969509	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00673.hp1 others(1): Show HG00438.hp2 HG00544.hp1 HG00673.hp1 HG01975.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0003c0004t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0003c0004t0003 a0003c0004t0042	a0001c0001t0001g0134 a0001c0001t0003g0009 a0003c0004t0003g0022 others(1): Show a0001c0001t0001g0134 a0001c0001t0003g0009 a0003c0004t0003g0022 a0003c0004t0042g0025	4	216	0.0185	22	c.477 others(41): Show c.477-13641_477-13620dupAAAAAAAAAAAAAAAAAAAAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31984570	G G	GGCAGCTT others(15): Show GGCAGCTTGTGACTGTAGTCCCA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02922.hp1 HG01358.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0035 a0002c0002 a0001c0035 a0002c0002	a0001c0035t0039 a0002c0002t0018 a0001c0035t0039 a0002c0002t0018	a0001c0035t0039g0209 a0002c0002t0018g0158 a0001c0035t0039g0209 a0002c0002t0018g0158	2	216	0.0093	22	c.978 others(37): Show c.978+940_978+961dupGCTTGTGACTGTAGTCCCAGCA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32025591	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03041.hp1 HG06807.hp1 HG00735.hp2 HG03041.hp1 HG06807.hp1	a0002 a0007 a0013 a0002 a0007 a0013	a0002c0003 a0007c0013 a0013c0037 a0002c0003 a0007c0013 a0013c0037	a0002c0003t0002 a0007c0013t0004 a0013c0037t0001 a0002c0003t0002 a0007c0013t0004 a0013c0037t0001	a0002c0003t0002g0171 a0007c0013t0004g0198 a0013c0037t0001g0127 a0002c0003t0002g0171 a0007c0013t0004g0198 a0013c0037t0001g0127	3	216	0.0139	22	c.140 others(43): Show c.1408-11633_1408-11612dupTTTTTTTTTTTTTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD8_chr10_117272274_117380440	117370918	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0118 a0001c0002t0004g0118	1	322	0.0031	22	c.872 others(39): Show c.872+3416_872+3437dupCACACACACACACACACACACA	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4			chr10	TogoVar
PDZRN3_chr3_73377431_73629941	73386226	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	216	0.0046	22	c.151 others(39): Show c.1519-442_1519-441insAAAAAAAAAAAAAAAAAAAAAA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	8/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73452839	C C	CTCTGTGT others(15): Show CTCTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	216	0.0046	22	c.919 others(41): Show c.919-48445_919-48444insCACACACACACACACACACAGA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73452839	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA19002.hp2 HG03669.hp1 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0024 a0002c0003 a0001c0024 a0002c0003	a0001c0024t0002 a0002c0003t0001 a0001c0024t0002 a0002c0003t0001	a0001c0024t0002g0114 a0002c0003t0001g0055 a0001c0024t0002g0114 a0002c0003t0001g0055	2	216	0.0093	22	c.919 others(41): Show c.919-48466_919-48445dupCACACACACACACACACACACA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73562983	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA20300.hp1 HG00735.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0035 a0001c0004t0001g0209 a0001c0001t0001g0035 a0001c0004t0001g0209	2	216	0.0093	22	c.918 others(41): Show c.918+39349_918+39370dupTATATATATATATATATATATA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73600337	A A	ACACACAC others(15): Show ACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0173 a0001c0002t0002g0173	1	216	0.0046	22	c.918 others(39): Show c.918+2016_918+2017insAGAGAGAGAGAGAGTGTGTGTG	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73600337	A A	ACACACAC others(15): Show ACACACACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0188 a0001c0010t0002g0188	1	216	0.0046	22	c.918 others(39): Show c.918+2016_918+2017insAGAGAGAGAGAGAGAGTGTGTG	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41197918	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTGTTTTGTTTTT	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0020 a0006c0007t0003g0020	1	206	0.0049	22	c.843 others(39): Show c.843+3730_843+3731insTTTTTTTTTTTGTTTTGTTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41214430	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA18942.hp2 NA19064.hp1 HG01192.hp1 NA18942.hp2 NA19064.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0011 a0003c0005 a0001c0001 a0001c0011 a0003c0005	a0001c0001t0002 a0001c0011t0003 a0003c0005t0001 a0001c0001t0002 a0001c0011t0003 a0003c0005t0001	a0001c0001t0002g0036 a0001c0011t0003g0034 a0003c0005t0001g0017 a0001c0001t0002g0036 a0001c0011t0003g0034 a0003c0005t0001g0017	3	206	0.0146	22	c.843 others(41): Show c.843+20262_843+20263insAAAAAAAAAAAAAAAAAAAAAA	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(15): Show GTATACATACATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG01109.hp1 others(15): Show HG00438.hp1 HG00558.hp1 HG01109.hp1 HG01169.hp1 HG02148.hp2 HG03017.hp2 NA18612.hp2 NA18945.hp2 NA18950.hp1 NA18953.hp2 NA18954.hp1 NA18970.hp1 NA18970.hp2 NA18983.hp1 NA19030.hp2 NA19066.hp1 NA19070.hp1 NA19086.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0023	a0001c0001 a0001c0013 a0002c0009 others(6): Show a0001c0001 a0001c0013 a0002c0009 a0003c0005 a0004c0003 a0005c0008 a0008c0046 a0010c0052 a0023c0050	a0001c0001t0002 a0001c0013t0001 a0002c0009t0001 others(6): Show a0001c0001t0002 a0001c0013t0001 a0002c0009t0001 a0003c0005t0001 a0004c0003t0001 a0005c0008t0001 a0008c0046t0001 a0010c0052t0001 a0023c0050t0001	a0001c0001t0002g0002 a0001c0001t0002g0054 a0001c0013t0001g0040 others(15): Show a0001c0001t0002g0002 a0001c0001t0002g0054 a0001c0013t0001g0040 a0002c0009t0001g0166 a0002c0009t0001g0190 a0002c0009t0001g0198 a0003c0005t0001g0018 a0003c0005t0001g0048 a0003c0005t0001g0049 a0003c0005t0001g0050 a0003c0005t0001g0059 a0003c0005t0001g0083 a0004c0003t0001g0067 a0004c0003t0001g0104 a0005c0008t0001g0182 a0008c0046t0001g0135 a0010c0052t0001g0032 a0023c0050t0001g0023	18	206	0.0874	22	c.843 others(43): Show c.843+122864_843+122865insCATACATATATATATATATATA	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(15): Show GTATACATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02300.hp2 HG02698.hp1 others(3): Show HG01243.hp1 HG02300.hp2 HG02698.hp1 NA18947.hp1 NA18964.hp1 NA19012.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0014	a0001c0004 a0002c0002 a0002c0019 others(3): Show a0001c0004 a0002c0002 a0002c0019 a0006c0007 a0007c0014 a0014c0058	a0001c0004t0001 a0002c0002t0002 a0002c0019t0003 others(3): Show a0001c0004t0001 a0002c0002t0002 a0002c0019t0003 a0006c0007t0003 a0007c0014t0001 a0014c0058t0001	a0001c0004t0001g0072 a0002c0002t0002g0164 a0002c0019t0003g0177 others(3): Show a0001c0004t0001g0072 a0002c0002t0002g0164 a0002c0019t0003g0177 a0006c0007t0003g0022 a0007c0014t0001g0132 a0014c0058t0001g0173	6	206	0.0291	22	c.843 others(43): Show c.843+122864_843+122865insCATATATATATATATATATATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41571335	G G	GTCTCTCT others(15): Show GTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA18950.hp2 HG02148.hp1 NA18950.hp2	a0002 a0007 a0002 a0007	a0002c0009 a0007c0018 a0002c0009 a0007c0018	a0002c0009t0001 a0007c0018t0001 a0002c0009t0001 a0007c0018t0001	a0002c0009t0001g0197 a0007c0018t0001g0126 a0002c0009t0001g0197 a0007c0018t0001g0126	2	206	0.0097	22	c.158 others(40): Show c.1585-1008_1585-987dupTCTCTCTCTCTCTCTCTCTCTC	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77182749	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0312 a0001c0001t0052g0312	1	326	0.0031	22	c.-11 others(39): Show c.-114-710_-114-709insTTTTTTTTTTTTTTTTTTTTTT	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77298197	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0001 a0015c0015t0001	a0015c0015t0001g0082 a0015c0015t0001g0082	1	326	0.0031	22	c.-60 others(43): Show c.-602-11715_-602-11694dupAAAAAAAAAAAAAAAAAAAAAA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77313702	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0034 a0001c0004t0034	a0001c0004t0034g0307 a0001c0004t0034g0307	1	326	0.0031	22	c.-60 others(43): Show c.-602-27199_-602-27198insCATATATATATATATATATATA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEBP1_chr12_118131124_118150584	118135098	C C	CTGTGAGT others(15): Show CTGTGAGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	426	0.0024	22	c.-11 others(33): Show c.-1112_-1111insTGTGAGTGTGTGTGTGTGTGTG	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding		1025		chr12	TogoVar
PEBP4_chr8_22708251_22932914	22822355	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02895.hp2 HG02896.hp2	a0003 a0005 a0003 a0005	a0003c0007 a0005c0032 a0003c0007 a0005c0032	a0003c0007t0004 a0005c0032t0005 a0003c0007t0004 a0005c0032t0005	a0003c0007t0004g0243 a0005c0032t0005g0031 a0003c0007t0004g0243 a0005c0032t0005g0031	2	278	0.0072	22	c.259 others(39): Show c.259-4621_259-4620insTACACACACACACACACACACA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	3/6			chr8	TogoVar

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