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
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG01258.hp2 others(17): Show HG00140.hp2 HG00597.hp1 HG01258.hp2 HG01934.hp1 HG01934.hp2 HG02257.hp2 HG02559.hp1 HG02965.hp2 HG03490.hp1 HG03669.hp2 HG03704.hp1 NA18970.hp1 NA18990.hp2 NA18999.hp2 NA19012.hp1 NA19063.hp2 NA19065.hp2 NA19075.hp2 NA19078.hp2 NA19081.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0004c0012	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0015t0001 a0004c0012t0001	a0001c0001t0001g0004 a0001c0001t0001g0161 a0001c0001t0001g0175 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0161 a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0001g0242 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0006g0185 a0001c0002t0001g0012 a0001c0002t0001g0158 a0001c0003t0001g0313 a0001c0015t0001g0306 a0001c0015t0001g0340 a0004c0012t0001g0233 a0004c0012t0001g0248	20	212	0.0943	44	c.212 others(63): Show c.2126-3738_2126-3737insGAGAGAGAGAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02080.hp2 HG04115.hp2 others(8): Show HG01952.hp1 HG02080.hp2 HG04115.hp2 HG04184.hp2 NA18946.hp2 NA18953.hp1 NA18960.hp2 NA18980.hp1 NA19003.hp2 NA19057.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0017 a0001c0002t0001g0085 a0001c0002t0001g0132 others(7): Show a0001c0002t0001g0017 a0001c0002t0001g0085 a0001c0002t0001g0132 a0001c0002t0001g0155 a0001c0002t0001g0250 a0001c0002t0001g0280 a0001c0003t0001g0147 a0001c0003t0001g0150 a0001c0003t0001g0198 a0001c0003t0001g0325	11	203	0.0542	44	c.212 others(63): Show c.2126-3738_2126-3737insGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0159	1	193	0.0052	44	c.212 others(63): Show c.2126-3742_2126-3741insGAGAGAGAGAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18995.hp2 HG03130.hp1 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0195 a0001c0008t0001g0339 a0001c0002t0001g0195 a0001c0008t0001g0339	2	194	0.0103	44	c.212 others(63): Show c.2126-3742_2126-3741insGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLIN4_chr19_4497192_4523486	4509316	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAACAAAAAAAAACAAAAAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0006 a0006	a0006c0096 a0006c0096	a0006c0096t0004 a0006c0096t0004	a0006c0096t0004g0243 a0006c0096t0004g0243	1	367	0.0027	44	c.351 others(61): Show c.3515-362_3515-361insGTTTGTTTGTTTTTTTGTTTTTTTTTGT TTTTTTTTTTTTTTTT	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/7			chr19	TogoVar
PLK3_chr1_44795377_44810990	44795652	T T	TATATATA others(37): Show TATATATAAATATATAAATATATATAAATATATATAAATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	381	0.0026	44	c.-48 others(55): Show c.-4812_-4811insATATATAAATATATAAATATATATAAATATATAT AAATATATAA	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4724		chr1	TogoVar
PLPP3_chr1_56489761_56584563	56518715	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02818.hp2 HG01433.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0004 a0001c0001t0002 a0001c0003t0004	a0001c0001t0002g0126 a0001c0003t0004g0171 a0001c0001t0002g0126 a0001c0003t0004g0171	2	164	0.0122	44	c.633 others(61): Show c.633+5107_633+5108insTATATATATATATATATATATATATATA TATATATATATATATA	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	4/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557052	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02074.hp2 HG03139.hp2 others(3): Show HG01106.hp2 HG02074.hp2 HG03139.hp2 HG04115.hp2 NA19072.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0025 a0001c0001t0001g0187 a0001c0001t0001g0280 others(3): Show a0001c0001t0001g0025 a0001c0001t0001g0187 a0001c0001t0001g0280 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0003g0125	6	164	0.0366	44	c.140 others(63): Show c.140-19941_140-19940insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557056	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01515.hp2 HG02083.hp1 others(11): Show HG00642.hp1 HG01515.hp2 HG02083.hp1 HG02615.hp1 HG02738.hp2 HG02818.hp2 HG02965.hp2 NA18747.hp1 NA18942.hp2 NA18952.hp1 NA18957.hp1 NA18969.hp2 NA18972.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0015 a0001c0001t0001g0128 a0001c0001t0001g0276 others(11): Show a0001c0001t0001g0015 a0001c0001t0001g0128 a0001c0001t0001g0276 a0001c0001t0002g0057 a0001c0001t0002g0126 a0001c0001t0002g0168 a0001c0001t0002g0177 a0001c0001t0003g0155 a0001c0001t0004g0016 a0001c0001t0005g0167 a0001c0002t0001g0158 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0166	14	101	0.1386	44	c.140 others(63): Show c.140-19945_140-19944insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLVAP_chr19_17346455_17382342	17349161	T T	TCTTTCTT others(37): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	433	0.0023	44	c.32 others(55): Show c.3200_*3201insGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAA AGAAAGAAAG	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2293		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17349165	T T	TCTTTCTT others(37): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0365	1	433	0.0023	44	c.31 others(55): Show c.3196_*3197insGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAA AGAAAGAAAG	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2289		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17349170	C C	CTTTCTTT others(37): Show CTTTCTTTCTTCTTTCTTCTTTCTTTCTTTCTTTCCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0344	1	399	0.0025	44	c.31 others(55): Show c.3191_*3192insAGAAAGAAAGGAAAGAAAGAAAGAAAGAAGAAAG AAGAAAGAAA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2284		chr19	TogoVar
PLXDC1_chr17_39058313_39156637	39129688	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02615.hp2 NA19067.hp1 HG00423.hp1 HG02615.hp2 NA19067.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0013 a0001c0001 a0001c0002 a0005c0013	a0001c0001t0001 a0001c0002t0002 a0005c0013t0027 a0001c0001t0001 a0001c0002t0002 a0005c0013t0027	a0001c0001t0001g0182 a0001c0002t0002g0205 a0005c0013t0027g0158 a0001c0001t0001g0182 a0001c0002t0002g0205 a0005c0013t0027g0158	3	248	0.0121	44	c.255 others(61): Show c.255+9965_255+9966insCTTTCTTTCTTTCTTTCCTTCTTTCTTT CTTTCTTTCTTTCTTT	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC1_chr17_39058313_39156637	39129711	G G	GGAAAGAA others(37): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp2 HG01071.hp1 others(7): Show HG00323.hp2 HG00673.hp2 HG01071.hp1 HG02071.hp2 HG02132.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 NA18983.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0029 a0001c0002t0023 a0002c0003t0006 a0002c0003t0015	a0001c0001t0001g0264 a0001c0001t0004g0187 a0001c0001t0011g0288 others(6): Show a0001c0001t0001g0264 a0001c0001t0004g0187 a0001c0001t0011g0288 a0001c0001t0012g0293 a0001c0001t0012g0313 a0001c0001t0029g0003 a0001c0002t0023g0312 a0002c0003t0006g0001 a0002c0003t0015g0314	10	110	0.0909	44	c.255 others(61): Show c.255+9942_255+9943insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC2_chr10_19811432_20294856	20044122	T T	TCCTTCCT others(37): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0075 a0002c0002t0006g0075	1	52	0.0192	44	c.325 others(61): Show c.325-2744_325-2743insTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTCCCT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20238687	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATACACACATATATGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02647.hp1 others(3): Show HG01069.hp2 HG01071.hp2 HG02647.hp1 HG03453.hp1 HG03704.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 others(2): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0092	a0002c0002t0002g0172 a0002c0002t0005g0083 a0002c0002t0005g0086 others(3): Show a0002c0002t0002g0172 a0002c0002t0005g0083 a0002c0002t0005g0086 a0002c0002t0006g0075 a0002c0002t0007g0037 a0002c0002t0092g0078	6	139	0.0432	44	c.131 others(63): Show c.1313-6652_1313-6651insTATATATATATATATATATATATACA CACATATATGTGTATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA2_chr1_208017242_208249384	208209983	A A	AATTTTTT others(37): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0104 a0002c0002t0104	a0002c0002t0104g0301 a0002c0002t0104g0301	1	57	0.0175	44	c.137 others(61): Show c.1371+296_1371+297insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAT	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132327048	G G	GGGAGAGA others(37): Show GGGAGAGAAGAAAGGAGGGAGGGAGAGAAGAAAGGAGGGAGGGTA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0084 a0005c0015t0001g0084	1	86	0.0116	44	c.137 others(65): Show c.1372-28827_1372-28826insTACCCTCCCTCCTTTCTTCTCTCC CTCCCTCCTTTCTTCTCTCC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	3/31			chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50307782	G G	GGGGAGGG others(37): Show GGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGAAGAGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0007 a0007	a0007c0076 a0007c0076	a0007c0076t0001 a0007c0076t0001	a0007c0076t0001g0258 a0007c0076t0001g0258	1	297	0.0034	44	c.-30 others(53): Show c.-304_-303insTCCCCCTCTTCCCCTCCCCCTCTTCCCCCTCCCCTC CCCCTCCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		137		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594338	T T	TGGGGGGG others(37): Show TGGGGGGGTGGGGGGGTGGGGGGGTGGGGGGGTGGGGGGGCGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	243	0.0041	44	c.-45 others(55): Show c.-4534_-4533insCACCGCCCCCCCACCCCCCCACCCCCCCACCCCC CCACCCCCCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4499		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594385	G G	GGTGGGGG others(37): Show GGTGGGGGAGGCGGTGGGGGGGGTGGGGGAGGCGGTGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	325	0.0031	44	c.-45 others(55): Show c.-4581_-4580insACCCCCCCCACCGCCTCCCCCACCCCCCCCACCG CCTCCCCCAC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4546		chr22	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAATAATA others(37): Show AAATAATATACATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0358 a0001c0003t0004g0358	1	45	0.0222	44	c.-95 others(53): Show c.-956_-955insATATATATATATATATATATATATATATATATATGT ATATTATT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTG others(37): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	351	0.0028	44	c.-20 others(55): Show c.-2004_-2003insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAACAAAAAA	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		1698		chr19	TogoVar
POC1B_chr12_89414718_89531047	89476759	T T	TAGATAGA others(37): Show TAGATAGATAGATAGATAGATAGATAGATAGATAGACAGACAGAC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	310	0.0032	44	c.453 others(61): Show c.453-4485_453-4484insGTCTGTCTGTCTATCTATCTATCTATCT ATCTATCTATCTATCT	POC1B	ENSG00000139323.14	transcript	ENST00000313546.8	protein_coding	4/11			chr12	TogoVar
POC1B_chr12_89414718_89531047	89476759	T T	TAGATAGA others(37): Show TAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	310	0.0032	44	c.453 others(61): Show c.453-4485_453-4484insGTCTATCTATCTATCTATCTATCTATCT ATCTATCTATCTATCT	POC1B	ENSG00000139323.14	transcript	ENST00000313546.8	protein_coding	4/11			chr12	TogoVar
PODXL_chr7_131495271_131561628	131558478	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0003 a0008c0014t0003	a0008c0014t0003g0035 a0008c0014t0003g0035	1	383	0.0026	44	c.-21 others(55): Show c.-2120_-2119insAAAAAATATATATATATATATATATATATATATA TATATATATA	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		1851		chr7	TogoVar
POLA1_chrX_24688918_25001986	24921892	T T	TTGTGTGT others(37): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	156	0.0064	44	c.416 others(63): Show c.4165-8545_4165-8544insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTG	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	35/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02040.hp1 HG03704.hp1 others(3): Show HG00544.hp1 HG02040.hp1 HG03704.hp1 NA18980.hp1 NA18993.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0014 a0001c0001t0002g0171 a0001c0001t0002g0172	6	77	0.0779	44	c.438 others(59): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POLG_chr15_89311320_89339824	89325105	T T	TGAGTGAG others(37): Show TGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGTGAGTGAGTGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18990.hp1 HG00673.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0098 a0001c0001t0001g0099	2	374	0.0053	44	c.194 others(61): Show c.1949+344_1949+345insTCACTCACTCACTCTCACTCACTCACTC TCTCACTCTCTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLG_chr15_89311320_89339824	89325183	T T	TGAGAGAG others(37): Show TGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	391	0.0026	44	c.194 others(61): Show c.1949+266_1949+267insTCTCACTCACTCACTCACTCACTCTCTC ACTCACTCACTCTCTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLN_chr4_2066918_2247121	2243915	A A	AACAGAGA others(37): Show AACAGAGAGACAGAGACAGAGAGACAGAGACAGAGACAGAGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02965.hp2 HG02145.hp2 HG02965.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0098 a0002c0001t0001g0162 a0002c0001t0001g0098 a0002c0001t0001g0162	2	121	0.0165	44	c.-21 others(55): Show c.-2149_-2148insGTCTCTCTGTCTCTGTCTCTGTCTCTCTGTCTCT GTCTCTCTGT	POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding		1795		chr4	TogoVar
POLR2C_chr16_57457679_57477009	57475693	T T	TCTCTCTC others(37): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	231	0.0043	44	c.45 others(55): Show c.4574_*4575insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCC	POLR2C	ENSG00000102978.13	transcript	ENST00000219252.10	protein_coding		3685		chr16	TogoVar
POLR3E_chr16_22292409_22340096	22303639	C C	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	242	0.0041	44	c.36+ others(57): Show c.36+653_36+654insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	POLR3E	ENSG00000058600.16	transcript	ENST00000299853.10	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
POR_chr7_75910155_75991855	75989077	T T	TGGAGGGG others(37): Show TGGAGGGGTGGAGGTTGAGGGGGGGAGGGGTGGAGGTTGAGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01069.hp2 others(17): Show HG00323.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01257.hp1 HG01358.hp1 HG01928.hp2 HG02109.hp1 HG02698.hp1 HG03704.hp2 NA18943.hp1 NA18982.hp2 NA19060.hp1 NA19070.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0005 others(2): Show a0001c0002 a0001c0004 a0001c0005 a0001c0025 a0002c0001	a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 others(2): Show a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0025t0001 a0002c0001t0002	a0001c0002t0001g0049 a0001c0002t0001g0055 a0001c0002t0001g0059 others(17): Show a0001c0002t0001g0049 a0001c0002t0001g0055 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0074 a0001c0002t0001g0105 a0001c0002t0001g0119 a0001c0002t0001g0122 a0001c0002t0001g0143 a0001c0002t0001g0199 a0001c0002t0001g0263 a0001c0002t0001g0265 a0001c0004t0001g0148 a0001c0005t0001g0254 a0001c0005t0001g0266 a0001c0025t0001g0010 a0002c0001t0002g0126 a0002c0001t0002g0164 a0002c0001t0002g0165 a0002c0001t0002g0253	20	230	0.0870	44	c.25 others(55): Show c.2596_*2597insGGAGGGGTGGAGGTTGAGGGGGGGAGGGGTGGAG GTTGAGGGGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2223		chr7	TogoVar
POR_chr7_75910155_75991855	75989104	G G	GGGTGGAG others(37): Show GGGTGGAGGTTGAGGGGGGGGAGGGGTGGAGGTTGAGGGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0064 a0001c0004t0001g0064	1	252	0.0040	44	c.26 others(55): Show c.2623_*2624insGGTGGAGGTTGAGGGGGGGGAGGGGTGGAGGTTG AGGGGGGGGA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2250		chr7	TogoVar
POU2F1_chr1_167215886_167432340	167429373	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0115 a0001c0001t0060g0115	1	125	0.0080	44	c.13 others(57): Show c.13563_*13564insTATATATATATATATATATATATATATATATA TATATATATATA	POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding		2034		chr1	TogoVar
PP2D1_chr3_19980346_20017264	20012891	A A	ATACACAT others(37): Show ATACACATATATACATATATATGTGTATATATATACAGTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02257.hp1 others(8): Show HG01884.hp1 HG02109.hp2 HG02257.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0004 a0004c0005t0004 a0001c0001t0004 a0004c0005t0004	a0001c0001t0004g0153 a0004c0005t0004g0008 a0004c0005t0004g0152 others(1): Show a0001c0001t0004g0153 a0004c0005t0004g0008 a0004c0005t0004g0152 a0004c0005t0004g0154	11	394	0.0279	44	c.-82 others(53): Show c.-820_-819insATATATACTGTATATATATACACATATATATGTATA TATGTGTA	PP2D1	ENSG00000183977.14	transcript	ENST00000389050.5	protein_coding		628		chr3	TogoVar
PPA2_chr4_105364077_105479062	105460858	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	334	0.0030	44	c.158 others(61): Show c.158-4114_158-4113insATATATATATATATATATATATATATAT ATATATATATATATAT	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	1/11			chr4	TogoVar
PPARGC1A_chr4_23787021_23895047	23844742	C C	CATAATAT others(37): Show CATAATATATGATATATATTATAATAATATATGATATATATTATA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19082.hp2 NA19000.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0051 a0001c0001t0039 a0001c0001t0051	a0001c0001t0039g0255 a0001c0001t0051g0287 a0001c0001t0039g0255 a0001c0001t0051g0287	2	264	0.0076	44	c.235 others(63): Show c.235-13035_235-12992dupTATAATATATATCATATATTATTATA ATATATATCATATATTAT	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	2/12			chr4	TogoVar
PPARGC1A_chr4_23787021_23895047	23844742	C C	CATAATAT others(37): Show CATAATATATGATATATATTATTATAATATATGATATATATTATT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0242 a0001c0001t0054g0242	1	263	0.0038	44	c.235 others(63): Show c.235-12992_235-12991insAATAATATATATCATATATTATAATA ATATATATCATATATTAT	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	2/12			chr4	TogoVar
PPARGC1A_chr4_23787021_23895047	23844786	A A	AATAATAT others(37): Show AATAATATATGATATATATTATAATAATATATGATATATATTATT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG04199.hp2 HG02647.hp1 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0052 a0002c0002t0001 a0001c0001t0052 a0002c0002t0001	a0001c0001t0052g0340 a0002c0002t0001g0066 a0001c0001t0052g0340 a0002c0002t0001g0066	2	79	0.0253	44	c.235 others(63): Show c.235-13036_235-13035insAATAATATATATCATATATTATTATA ATATATATCATATATTAT	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	2/12			chr4	TogoVar
PPEF2_chr4_75854867_75907452	75877006	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(32): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00741.hp2 HG01071.hp2 HG01099.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01517.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG03139.hp1 HG03471.hp1 HG03490.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04199.hp1 NA18612.hp1 NA18952.hp2	a0001 a0007 a0011 a0001 a0007 a0011	a0001c0001 a0001c0002 a0001c0016 others(2): Show a0001c0001 a0001c0002 a0001c0016 a0007c0009 a0011c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0016t0001 a0007c0009t0001 a0011c0012t0001	a0001c0001t0001g0048 a0001c0001t0001g0062 a0001c0001t0001g0088 others(31): Show a0001c0001t0001g0048 a0001c0001t0001g0062 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0142 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0002g0001 a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0100 a0001c0001t0002g0177 a0001c0001t0002g0195 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0016t0001g0054 a0007c0009t0001g0213 a0011c0012t0001g0085	35	45	0.7778	44	c.934 others(59): Show c.934-334_934-333insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	10/16			chr4	TogoVar
PPFIA1_chr11_70265690_70389396	70277060	A A	ATATATAT others(37): Show ATATATATATATTATAATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp2 HG02622.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0048 a0001c0003t0003g0049 a0001c0003t0003g0048 a0001c0003t0003g0049	2	10	0.2000	44	c.264 others(61): Show c.264+4625_264+4626insATATATATATTATAATATATATATATAT ATATATATATATTTTT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA1_chr11_70265690_70389396	70277060	A A	ATATTATA others(37): Show ATATTATAATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0041 a0001c0003t0003g0041	1	9	0.1111	44	c.264 others(61): Show c.264+4625_264+4626insATTATAATATATATATATATATATATAT ATATATATATATATTT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA3_chr19_49114544_49156026	49155783	G G	GATTGCGG others(37): Show GATTGCGGGGTGTTTCCAGCTGGAATGATACGTGCTGGTGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	360	0.0028	44	c.55 others(55): Show c.5561_*5562insATTGCGGGGTGTTTCCAGCTGGAATGATACGTGC TGGTGAGAGA	PPFIA3	ENSG00000177380.14	transcript	ENST00000334186.9	protein_coding		4758		chr19	TogoVar
PPL_chr16_4877507_4942148	4920345	G G	GAGAGAGA others(37): Show GAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0006 a0010c0019t0006	a0010c0019t0006g0342 a0010c0019t0006g0342	1	252	0.0040	44	c.63- others(59): Show c.63-9397_63-9396insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTCTCT	PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21			chr16	TogoVar
PPL_chr16_4877507_4942148	4920345	G G	GAGAGAGA others(37): Show GAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0063 a0002c0063	a0002c0063t0002 a0002c0063t0002	a0002c0063t0002g0317 a0002c0063t0002g0317	1	252	0.0040	44	c.63- others(59): Show c.63-9397_63-9396insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTCTCT	PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21			chr16	TogoVar
PPM1E_chr17_58750854_58990179	58785458	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0251 a0001c0001t0011g0251	1	76	0.0132	44	c.464 others(63): Show c.464+29029_464+29030insTATATATATATATATATATATATATA TATATATATATATATATA	PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PPM1J_chr1_112704998_112720332	112706476	A A	ACACACAC others(37): Show ACACACACACACACACACCACACACACACACACACACCCCCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	413	0.0024	44	c.36 others(55): Show c.3686_*3687insGTGTGGGGGTGTGTGTGTGTGTGTGTGGTGTGTG TGTGTGTGTG	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3521		chr1	TogoVar
PPM1L_chr3_160751231_161083902	160808383	C C	CTCTGTGT others(37): Show CTCTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGTGTGTG	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18943.hp1 HG03688.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0016 a0001c0001t0007g0019 a0001c0001t0005g0016 a0001c0001t0007g0019	2	75	0.0267	44	c.399 others(63): Show c.399+51677_399+51678insCTGTGTGTGTGTGTGTGTGTGTGTGC GCGCGCGCGCGTGTGTGT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar

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