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
PDZD2_chr5_31634131_32115932	31989419	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTTTTTATTTA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0124 a0002c0011t0002g0124	1	214	0.0047	30	c.978 others(47): Show c.978+5764_978+5765insTTTTTTTTTTTTTTTTTTTTTTTTATTT AT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31989423	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	214	0.0047	30	c.978 others(47): Show c.978+5784_978+5785insTTTTATTTATTTATTTTTTTTTTTTTTT TT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31989424	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02683.hp2 HG02886.hp1 HG00621.hp2 HG02683.hp2 HG02886.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0002c0040 a0004c0006 a0002c0003 a0002c0040 a0004c0006	a0002c0003t0002 a0002c0040t0032 a0004c0006t0010 a0002c0003t0002 a0002c0040t0032 a0004c0006t0010	a0002c0003t0002g0048 a0002c0040t0032g0143 a0004c0006t0010g0055 a0002c0003t0002g0048 a0002c0040t0032g0143 a0004c0006t0010g0055	3	188	0.0160	30	c.978 others(47): Show c.978+5784_978+5785insTTTTTATTTATTTATTTTTTTTTTTTTT TT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31989424	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTTTTTATTTA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	186	0.0054	30	c.978 others(47): Show c.978+5784_978+5785insTTTTTTTTTATTTATTTTTTTTTTTTTT TT	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(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0042 a0002c0002t0018g0042	1	26	0.0385	30	c.140 others(51): Show c.1408-11612_1408-11611insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD8_chr10_117272274_117380440	117276089	G G	GAGCAACC others(23): Show GAGCAACCTGGGCAATGTAGTGAGATGTCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0215 a0001c0001t0056g0215	1	320	0.0031	30	c.71 others(41): Show c.7149_*7178dupATGACATCTCACTACATTGCCCAGGTTGCT	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding		1184		chr10	TogoVar
PDZRN3_chr3_73377431_73629941	73563013	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0070 a0001c0002t0002g0070	1	175	0.0057	30	c.918 others(49): Show c.918+39340_918+39341insAAAATATATATATATATATATATATA TATA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73573772	C C	CACATATA others(23): Show CACATATACATATACATATACATATACATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0206 a0002c0026t0001g0206	1	194	0.0052	30	c.918 others(49): Show c.918+28581_918+28582insATATGTATATGTATATGTATATGTAT ATGT	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41317048	G G	GTATACAT others(23): Show GTATACATACATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18945.hp1 NA19012.hp1 others(1): Show HG02074.hp1 NA18945.hp1 NA19012.hp1 NA19056.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0002 a0001c0004t0001 a0003c0005t0001 a0001c0001t0002 a0001c0004t0001 a0003c0005t0001	a0001c0001t0002g0035 a0001c0004t0001g0071 a0003c0005t0001g0069 others(1): Show a0001c0001t0002g0035 a0001c0004t0001g0071 a0003c0005t0001g0069 a0003c0005t0001g0070	4	39	0.1026	30	c.843 others(51): Show c.843+122864_843+122865insCATACATATATATATATATATATA TATATA	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(23): Show GTATACATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18942.hp1 NA19010.hp1 others(1): Show HG02683.hp1 NA18942.hp1 NA19010.hp1 NA20905.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0003 a0007c0014 a0001c0001 a0004c0003 a0007c0014	a0001c0001t0002 a0004c0003t0001 a0007c0014t0001 a0001c0001t0002 a0004c0003t0001 a0007c0014t0001	a0001c0001t0002g0110 a0004c0003t0001g0105 a0004c0003t0001g0108 others(1): Show a0001c0001t0002g0110 a0004c0003t0001g0105 a0004c0003t0001g0108 a0007c0014t0001g0131	4	39	0.1026	30	c.843 others(51): Show c.843+122864_843+122865insCATATATATATATATATATATATA TATATA	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(23): Show GTATATGTATATATATACATATATATACATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03579.hp2 HG03540.hp2 HG03579.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0202 a0006c0007t0005g0253 a0006c0007t0005g0202 a0006c0007t0005g0253	2	309	0.0065	30	c.-11 others(49): Show c.-115+2162_-115+2191dupTATGTATATATATGTATATATATACA TATA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77386102	C C	CAGCTAAA others(23): Show CAGCTAAACATATATAGAACTAAAGGCCAGG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0013 a0001c0001t0016g0013	1	324	0.0031	30	c.-66 others(51): Show c.-665-20907_-665-20878dupCCTGGCCTTTAGTTCTATATATGT TTAGCT	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	1/9			chr15	TogoVar
PEBP1_chr12_118131124_118150584	118133194	A A	ATTATTTT others(23): Show ATTATTTTATTTTATTTTATTTTATTTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01884.hp1 HG03195.hp2 others(1): Show HG00323.hp1 HG01884.hp1 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0023 a0001c0001t0003g0059 a0001c0001t0003g0060 others(1): Show a0001c0001t0003g0023 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0008g0122	4	190	0.0211	30	c.-30 others(41): Show c.-3016_-3015insTTATTTTATTTTATTTTATTTTATTTTATT	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding		2929		chr12	TogoVar
PECR_chr2_216033388_216086809	216042979	G G	GTATATAT others(23): Show GTATATATATATACACATACATATATGTGTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02647.hp2 HG02145.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0093 a0001c0004t0001g0094	2	122	0.0164	30	c.826 others(45): Show c.826+924_826+925insTACACATATATGTATGTGTATATATATATA	PECR	ENSG00000115425.14	transcript	ENST00000265322.8	protein_coding	7/7			chr2	TogoVar
PECR_chr2_216033388_216086809	216043027	A A	ATATGTGT others(23): Show ATATGTGTGTGTATATATATATACACATACG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0307 a0001c0001t0005g0307	1	396	0.0025	30	c.826 others(45): Show c.826+876_826+877insCGTATGTGTATATATATATACACACACATA	PECR	ENSG00000115425.14	transcript	ENST00000265322.8	protein_coding	7/7			chr2	TogoVar
PECR_chr2_216033388_216086809	216043037	G G	GTATATAT others(23): Show GTATATATATATACACATACGTATATATGTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01070.hp1 others(19): Show HG00280.hp2 HG00323.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01175.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG02055.hp2 HG02615.hp1 HG02630.hp2 HG02735.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03471.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0002c0002t0002 a0001c0001t0001 a0001c0001t0007 a0002c0002t0002	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0039 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0364 a0001c0001t0001g0376 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0007g0083 a0002c0002t0002g0368 a0002c0002t0002g0370 a0002c0002t0002g0371	22	381	0.0577	30	c.826 others(45): Show c.826+866_826+867insTACATATATACGTATGTGTATATATATATA	PECR	ENSG00000115425.14	transcript	ENST00000265322.8	protein_coding	7/7			chr2	TogoVar
PECR_chr2_216033388_216086809	216043037	G G	GTATATAT others(23): Show GTATATATATATACACATACGTATATGTGTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02451.hp1 others(5): Show HG01891.hp2 HG02257.hp2 HG02451.hp1 HG02717.hp1 HG02818.hp2 HG02970.hp1 HG03041.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0306 a0001c0001t0005g0308 a0001c0001t0005g0310 others(5): Show a0001c0001t0004g0306 a0001c0001t0005g0308 a0001c0001t0005g0310 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0005g0318	8	367	0.0218	30	c.826 others(45): Show c.826+866_826+867insTACACATATACGTATGTGTATATATATATA	PECR	ENSG00000115425.14	transcript	ENST00000265322.8	protein_coding	7/7			chr2	TogoVar
PERM1_chr1_970198_987093	976719	C C	CCCCAGGA others(23): Show CCCCAGGAACCGCCTCCCACTCCCCCCACAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	406	0.0025	30	c.215 others(45): Show c.2150-96_2150-95insTTGTGGGGGGAGTGGGAGGCGGTTCCTGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	976875	C C	CAACCCCG others(23): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	392	0.0026	30	c.215 others(47): Show c.2150-252_2150-251insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	976907	C C	CAACCCCG others(23): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp1 HG03209.hp2 others(1): Show HG02922.hp1 HG03098.hp1 HG03209.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0006 a0002c0005t0004 a0001c0001t0006 a0002c0005t0004	a0001c0001t0006g0106 a0002c0005t0004g0028 a0002c0005t0004g0190 a0001c0001t0006g0106 a0002c0005t0004g0028 a0002c0005t0004g0190	4	395	0.0101	30	c.215 others(47): Show c.2150-284_2150-283insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977065	C C	CAACCCCG others(23): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01943.hp2 HG01975.hp1 others(3): Show HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 NA18945.hp1 NA19075.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0011 a0001c0007t0001g0081 a0001c0007t0001g0011 a0001c0007t0001g0081	6	174	0.0345	30	c.215 others(47): Show c.2150-442_2150-441insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977160	C C	CAACCCCG others(23): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02015.hp2 HG02040.hp1 others(5): Show HG00558.hp1 HG02015.hp2 HG02040.hp1 HG03834.hp1 NA18950.hp2 NA18952.hp1 NA18961.hp2 NA19078.hp2	a0001 a0007 a0020 a0001 a0007 a0020	a0001c0001 a0007c0010 a0020c0038 a0001c0001 a0007c0010 a0020c0038	a0001c0001t0001 a0001c0001t0005 a0007c0010t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0007c0010t0001 a0020c0038t0001	a0001c0001t0001g0046 a0001c0001t0001g0105 a0001c0001t0001g0108 others(4): Show a0001c0001t0001g0046 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0005g0175 a0007c0010t0001g0083 a0020c0038t0001g0172	8	228	0.0351	30	c.215 others(47): Show c.2150-537_2150-536insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977192	C C	CAACCCCG others(23): Show CAACCCCGGGAACCACCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00733.hp2 others(6): Show HG00140.hp1 HG00642.hp1 HG00733.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01993.hp2 HG03688.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0197 a0002c0002t0002g0208 a0002c0002t0002g0008 a0002c0002t0002g0197 a0002c0002t0002g0208	9	299	0.0301	30	c.215 others(47): Show c.2150-569_2150-568insCGGGGGGAGTGGGAGGTGGTTCCCGGGG TT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977444	C C	CAACCCCG others(23): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	295	0.0034	30	c.215 others(47): Show c.2150-821_2150-820insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977444	C C	CAACCCCG others(23): Show CAACCCCGGGAACCGCCTCCCACTCCCCGCG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0078 a0006c0008t0001g0078	1	295	0.0034	30	c.215 others(47): Show c.2150-821_2150-820insCGCGGGGAGTGGGAGGCGGTTCCCGGGG TT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	978047	A A	ACCCCCCC others(23): Show ACCCCCCCAACCCCAGGAACCGCCTCCCAAC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0198 a0002c0002t0002g0198	1	399	0.0025	30	c.214 others(47): Show c.2149+833_2149+834insGTTGGGAGGCGGTTCCTGGGGTTGGGGG GG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERP_chr6_138083505_138112419	138086314	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01943.hp1 HG02602.hp1 others(6): Show HG01099.hp1 HG01943.hp1 HG02602.hp1 NA18950.hp1 NA18973.hp1 NA18981.hp1 NA18986.hp1 NA19058.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0008 a0001c0001 a0002c0002 a0002c0008	a0001c0001t0004 a0001c0001t0093 a0002c0002t0005 others(2): Show a0001c0001t0004 a0001c0001t0093 a0002c0002t0005 a0002c0002t0011 a0002c0008t0011	a0001c0001t0004g0010 a0001c0001t0093g0224 a0002c0002t0005g0006 others(5): Show a0001c0001t0004g0010 a0001c0001t0093g0224 a0002c0002t0005g0006 a0002c0002t0005g0086 a0002c0002t0005g0242 a0002c0002t0011g0009 a0002c0002t0011g0186 a0002c0008t0011g0184	9	204	0.0441	30	c.57 others(41): Show c.5727_*5728insATATATATATATATATATATATATATATAT	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding		2190		chr6	TogoVar
PEX11G_chr19_7471875_7494035	7474754	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03209.hp1 NA19077.hp2 HG01891.hp2 HG03209.hp1 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0005 a0001c0004t0001g0003 a0001c0002t0001g0005 a0001c0004t0001g0003	3	222	0.0135	30	c.24 others(41): Show c.2447_*2448insACACACACACACACACACACACACACACAC	PEX11G	ENSG00000104883.8	transcript	ENST00000221480.6	protein_coding		2120		chr19	TogoVar
PEX1_chr7_92482025_92533520	92516008	A A	AAAGAAAA others(23): Show AAAGAAAAGAGAAGAGAAGAGAAGAGAAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0041 a0005c0007t0001g0041	1	265	0.0038	30	c.123 others(49): Show c.1239+1267_1239+1268insCTCTTCTCTTCTCTTCTCTTCTCTTT TCTT	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX1_chr7_92482025_92533520	92516055	A A	AGAGAAGA others(23): Show AGAGAAGAGAAGAGAAGAGAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0220 a0001c0002t0002g0220	1	142	0.0070	30	c.123 others(49): Show c.1239+1220_1239+1221insCTTTTCTTTTTTCTCTTCTCTTCTCT TCTC	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX3_chr6_143445805_143495616	143455171	A A	ATTTTCTT others(23): Show ATTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03195.hp1 HG06807.hp1 others(3): Show HG02809.hp2 HG03195.hp1 HG06807.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0030 a0001c0001t0001g0076 a0001c0001t0001g0077 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0235 a0001c0001t0007g0213	6	113	0.0531	30	c.74- others(45): Show c.74-3904_74-3875dupCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	PEX3	ENSG00000034693.15	transcript	ENST00000367591.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
PEX5L_chr3_179789958_180041937	180024347	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02615.hp1 HG02647.hp2 others(5): Show HG00741.hp2 HG02615.hp1 HG02647.hp2 HG03579.hp2 HG03927.hp1 NA18906.hp2 NA18967.hp2 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0018 a0001c0001t0030 a0001c0001t0042 a0002c0002t0005	a0001c0001t0001g0090 a0001c0001t0001g0119 a0001c0001t0005g0204 others(5): Show a0001c0001t0001g0090 a0001c0001t0001g0119 a0001c0001t0005g0204 a0001c0001t0007g0093 a0001c0001t0018g0058 a0001c0001t0030g0081 a0001c0001t0042g0210 a0002c0002t0005g0207	8	119	0.0672	30	c.21+ others(47): Show c.21+12231_21+12232insATATATATATATATATATATATATATAT AT	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PEX5L_chr3_179789958_180041937	180024373	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	201	0.0050	30	c.21+ others(47): Show c.21+12205_21+12206insGTATATATATATATATATATATATATAT AT	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PFKP_chr10_3062548_3141802	3098672	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0010 a0001c0017t0010	a0001c0017t0010g0395 a0001c0017t0010g0395	1	9	0.1111	30	c.187 others(45): Show c.187-585_187-584insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3106615	G G	GCCCCTCT others(23): Show GCCCCTCTCCTCACCCCTGCCCCTCTCCTCA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0018 a0001c0047t0018	a0001c0047t0018g0228 a0001c0047t0018g0228	1	374	0.0027	30	c.775 others(45): Show c.775-597_775-596insCCTCTCCTCACCCCTGCCCCTCTCCTCACC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAM5_chr12_132705842_132727734	132718545	T T	TGTCCTGG others(23): Show TGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp1 HG01069.hp2 others(6): Show HG00733.hp1 HG00738.hp1 HG01069.hp2 HG03654.hp2 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0032 a0001c0001t0005g0064 others(4): Show a0001c0001t0005g0020 a0001c0001t0005g0032 a0001c0001t0005g0064 a0001c0001t0005g0067 a0001c0001t0005g0072 a0001c0001t0005g0074 a0001c0001t0005g0075	9	389	0.0231	30	c.719 others(45): Show c.719+456_719+485dupGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	243	0.0041	30	c.-35 others(41): Show c.-3543_-3542insATATATATATATATTTTTTTTTTTTTTTTT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	243	0.0041	30	c.-35 others(41): Show c.-3543_-3542insATATATATATATATATATATTTTTTTTTTT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGAP4_chr9_101468170_101492173	101491822	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	457	0.0022	30	c.-49 others(41): Show c.-4952_-4951insGAATATATATATATATATATATATATATAT	PGAP4	ENSG00000165152.9	transcript	ENST00000374848.8	protein_coding		4650		chr9	TogoVar
PGGT1B_chr5_115199012_115267877	115207180	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01192.hp2 HG01070.hp1 HG01071.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0072 a0001c0001t0106 a0001c0001t0061 a0001c0001t0072 a0001c0001t0106	a0001c0001t0061g0109 a0001c0001t0072g0110 a0001c0001t0106g0197 a0001c0001t0061g0109 a0001c0001t0072g0110 a0001c0001t0106g0197	3	33	0.0909	30	c.52 others(41): Show c.5221_*5222insATATATATATATATATATATATATATATAT	PGGT1B	ENSG00000164219.10	transcript	ENST00000419445.6	protein_coding	9/9	5221		chr5	TogoVar
PGM2L1_chr11_74325316_74403433	74383820	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0100 a0002c0002t0004g0100	1	377	0.0027	30	c.112 others(47): Show c.112-9239_112-9238insATATATATATATATATATATATATATAT AT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	1/13			chr11	TogoVar
PGM2L1_chr11_74325316_74403433	74383824	A A	AATAAATA others(23): Show AATAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0199 a0002c0002t0004g0199	1	71	0.0141	30	c.112 others(47): Show c.112-9243_112-9242insATATATATATATATATATATATATATTT AT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	1/13			chr11	TogoVar
PGM2L1_chr11_74325316_74403433	74383824	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01884.hp2 HG01361.hp1 HG01884.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0015 a0002c0002t0054 a0001c0004t0015 a0002c0002t0054	a0001c0004t0015g0096 a0002c0002t0054g0325 a0001c0004t0015g0096 a0002c0002t0054g0325	2	72	0.0278	30	c.112 others(47): Show c.112-9243_112-9242insATATATATATATATATATATATATATAT AT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	1/13			chr11	TogoVar
PGM2L1_chr11_74325316_74403433	74402388	C C	CATAATAT others(23): Show CATAATATATATAATATATATATTATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02809.hp1 others(6): Show HG02622.hp2 HG02647.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0160 a0001c0004t0009g0161 a0001c0004t0009g0162 others(6): Show a0001c0004t0009g0160 a0001c0004t0009g0161 a0001c0004t0009g0162 a0001c0004t0009g0163 a0001c0004t0009g0164 a0001c0004t0009g0165 a0001c0004t0009g0166 a0001c0004t0009g0167 a0001c0004t0009g0168	9	377	0.0239	30	c.-42 others(41): Show c.-4228_-4227insAATATATAATATATATATTATATATATTAT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding		3956		chr11	TogoVar
PGM2_chr4_37821686_37867937	37841072	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	180	0.0056	30	c.719 others(45): Show c.719+842_719+843insATATATATATATATATATATATATATATAT	PGM2	ENSG00000169299.14	transcript	ENST00000381967.9	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PGM5_chr9_68351611_68536061	68406676	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0004 a0001c0014t0004	a0001c0014t0004g0018 a0001c0014t0004g0018	1	233	0.0043	30	c.104 others(51): Show c.1043+14204_1043+14205insATATATATATATATATATATATAT ATGTGT	PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PGPEP1_chr19_18335598_18374950	18364083	G G	GCTCTTTC others(23): Show GCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0006 a0001c0001t0086g0006	1	172	0.0058	30	c.50 others(39): Show c.502_*503insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	503	INFO_REALIGN_3_PRIME	chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18364092	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0199 a0001c0001t0199	a0001c0001t0199g0018 a0001c0001t0199g0018	1	388	0.0026	30	c.53 others(39): Show c.531_*532insTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	532	INFO_REALIGN_3_PRIME	chr19	TogoVar
PHACTR1_chr6_12711767_13292837	12921780	C C	CAGGGAGG others(23): Show CAGGGAGGGAAGGAAGAAGGAAGGGAGAGAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0067 a0001c0001t0007g0067	1	49	0.0204	30	c.251 others(51): Show c.251-131576_251-131575insAGGAAGAAGGAAGGGAGAGAAAGG GAGGGA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	12921780	C C	CAGGGAGG others(23): Show CAGGGAGGGAGGGAAGAAGGAAGGGAGAGAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG01167.hp2 others(53): Show HG00735.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01993.hp2 HG02109.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18955.hp1 NA18983.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0004	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 others(53): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0066 a0001c0001t0003g0098 a0001c0001t0005g0064 a0001c0001t0008g0106 a0001c0002t0001g0057 a0001c0002t0003g0087 a0001c0002t0004g0108 a0001c0003t0004g0105	56	104	0.5385	30	c.251 others(51): Show c.251-131559_251-131558insAGAAAGGGAGGGAGGGAAGAAGGA AGGGAG	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar

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