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
PPM1H_chr12_62638994_62940150	62673715	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03927.hp2 HG02080.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0086 a0001c0001t0005g0170 a0001c0001t0003g0086 a0001c0001t0005g0170	2	9	0.2222	23	c.124 others(42): Show c.1246-6409_1246-6387dupAAAAAAAAAAAAAAAAAAAAAAA	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	8/9			chr12	TogoVar
PPM1H_chr12_62638994_62940150	62867564	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0149 a0001c0001t0005g0149	1	67	0.0149	23	c.246 others(42): Show c.246-35308_246-35286dupAAAAAAAAAAAAAAAAAAAAAAA	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	1/9			chr12	TogoVar
PPM1H_chr12_62638994_62940150	62932628	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0030 a0001c0001t0013g0030	1	18	0.0556	23	c.245 others(40): Show c.245+1841_245+1863dupAAAAAAAAAAAAAAAAAAAAAAA	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	1/9			chr12	TogoVar
PPM1L_chr3_160751231_161083902	160970787	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0058 a0001c0001t0008g0058	1	150	0.0067	23	c.574 others(40): Show c.574+8899_574+8900insTTTTTTTTTTTTTTTTTTTTTTT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	161058118	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	2	0.5000	23	c.575 others(40): Show c.575-7283_575-7261dupTTTTTTTTTTTTTTTTTTTTTTT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP1CB_chr2_28746830_28807940	28785065	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01358.hp1 HG01256.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0009 a0001c0002t0002 a0001c0002t0009	a0001c0002t0002g0065 a0001c0002t0009g0161 a0001c0002t0002g0065 a0001c0002t0009g0161	2	153	0.0131	23	c.592 others(40): Show c.592+1093_592+1115dupTTTTTTTTTTTTTTTTTTTTTTT	PPP1CB	ENSG00000213639.11	transcript	ENST00000395366.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1CC_chr12_110714680_110747891	110742996	G G	GGGAGGGG others(16): Show GGGAGGGGGCGGGGCCCGGGCGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	335	0.0030	23	c.-29 others(32): Show c.-290_-289insAGCGCCCGGGCCCCGCCCCCTCC	PPP1CC	ENSG00000186298.12	transcript	ENST00000335007.10	protein_coding		106		chr12	TogoVar
PPP1R12C_chr19_55085918_55122637	55097106	C C	CACCACCG others(16): Show CACCACCGTCTTCACCCCTTCCCT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0213 a0001c0004t0001g0213	1	350	0.0029	23	c.952 others(38): Show c.952-772_952-771insAGGGAAGGGGTGAAGACGGTGGT	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	6/21			chr19	TogoVar
PPP1R12C_chr19_55085918_55122637	55097522	T T	TCACCACC others(16): Show TCACCACCGTCTTCACCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(40): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00733.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01261.hp1 HG01358.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG02027.hp2 HG02145.hp1 HG02559.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02970.hp2 HG03098.hp1 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03927.hp2 HG03942.hp2 NA18939.hp2 NA18944.hp1 NA18947.hp2 NA18959.hp1 NA18982.hp1 NA19000.hp1 NA19065.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0018 a0001c0022	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0018t0001 a0001c0022t0001	a0001c0001t0001g0034 a0001c0001t0001g0166 a0001c0001t0001g0226 others(22): Show a0001c0001t0001g0034 a0001c0001t0001g0166 a0001c0001t0001g0226 a0001c0002t0001g0032 a0001c0004t0001g0002 a0001c0004t0001g0020 a0001c0004t0001g0039 a0001c0004t0001g0040 a0001c0004t0001g0042 a0001c0004t0001g0132 a0001c0004t0001g0199 a0001c0004t0001g0201 a0001c0004t0001g0203 a0001c0004t0001g0204 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0211 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0216 a0001c0004t0001g0257 a0001c0018t0001g0067 a0001c0022t0001g0195	43	123	0.3496	23	c.952 others(40): Show c.952-1188_952-1187insGGGAAGGGGTGAAGACGGTGGTG	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	6/21			chr19	TogoVar
PPP1R16B_chr20_38800697_38928024	38801531	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	9	0.1111	23	c.-43 others(34): Show c.-4363_-4362insTTTTTTTTTTTTTTTTTTTTTTT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding		4165		chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38855974	A A	AAGGAGGA others(16): Show AAGGAGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02630.hp2 HG01261.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0040 a0001c0002t0007g0016 a0001c0001t0001g0040 a0001c0002t0007g0016	2	241	0.0083	23	c.250 others(42): Show c.250+19799_250+19800insAGGAGGAGGAGGAGGAGGAGGAG	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	2/10			chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38855978	A A	AAGAAGGA others(16): Show AAGAAGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	220	0.0045	23	c.250 others(42): Show c.250+19803_250+19804insAGAAGGAGGAGGAGGAGGAGGAG	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	2/10			chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38855978	A A	AAGGAGGA others(16): Show AAGGAGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0234 a0001c0002t0012g0234	1	220	0.0045	23	c.250 others(42): Show c.250+19803_250+19804insAGGAGGAGGAGGAGGAGGAGGAG	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	2/10			chr20	TogoVar
PPP1R1C_chr2_181980853_182122756	182102599	C C	CATGGACA others(16): Show CATGGACACAAGTTCAGGATACTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0334 a0001c0001t0002g0334	1	342	0.0029	23	c.242 others(42): Show c.242-14605_242-14583dupGGACACAAGTTCAGGATACTTAT	PPP1R1C	ENSG00000150722.11	transcript	ENST00000682840.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R2_chr3_195509428_195548325	195537520	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0193 a0001c0001t0006g0193	1	376	0.0027	23	c.122 others(40): Show c.122+5383_122+5384insCACACACACACACACACACACAC	PPP1R2	ENSG00000184203.8	transcript	ENST00000618156.5	protein_coding	1/5			chr3	TogoVar
PPP1R9A_chr7_94902594_95301400	95103362	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03195.hp2 others(1): Show HG02896.hp1 HG02897.hp2 HG03195.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0015 a0001c0002 a0001c0008 a0001c0015	a0001c0002t0006 a0001c0008t0001 a0001c0015t0001 a0001c0002t0006 a0001c0008t0001 a0001c0015t0001	a0001c0002t0006g0195 a0001c0002t0006g0196 a0001c0008t0001g0200 others(1): Show a0001c0002t0006g0195 a0001c0002t0006g0196 a0001c0008t0001g0200 a0001c0015t0001g0194	4	180	0.0222	23	c.139 others(42): Show c.1396-7879_1396-7878insTTTTTTTTTTTTTTTTTTTTTTT	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP2CB_chr8_30780616_30817818	30784662	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	122	0.0082	23	c.15 others(34): Show c.1572_*1573insATATATATATATTTTTTTTTTTT	PPP2CB	ENSG00000104695.13	transcript	ENST00000221138.9	protein_coding		953		chr8	TogoVar
PPP2CB_chr8_30780616_30817818	30784662	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	122	0.0082	23	c.15 others(34): Show c.1572_*1573insATATATATATATATTTTTTTTTT	PPP2CB	ENSG00000104695.13	transcript	ENST00000221138.9	protein_coding		953		chr8	TogoVar
PPP2R2A_chr8_26286508_26377680	26362017	A A	ATTAAGAT others(16): Show ATTAAGATTAGATTAAGATTAATC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02451.hp1 others(1): Show HG01243.hp1 HG02109.hp1 HG02451.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 others(1): Show a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0002g0072	4	337	0.0119	23	c.638 others(38): Show c.638-644_638-622dupCTTAAGATTAGATTAAGATTAAT	PPP2R2A	ENSG00000221914.11	transcript	ENST00000380737.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP2R2A_chr8_26286508_26377680	26362040	C C	CTTAAGAT others(16): Show CTTAAGATTAGATTAAGATTAATT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0051 a0001c0001t0006g0051	1	338	0.0030	23	c.638 others(38): Show c.638-632_638-610dupTTAAGATTAATTTTAAGATTAGA	PPP2R2A	ENSG00000221914.11	transcript	ENST00000380737.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP2R2B_chr5_146575742_146883757	146580288	C C	CTGGCCTT others(16): Show CTGGCCTTGGAATAATTCTTCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0144 a0001c0001t0093g0144	1	168	0.0060	23	c.96 others(34): Show c.9658_*9659insCATGAAGAATTATTCCAAGGCCA	PPP2R2B	ENSG00000156475.19	transcript	ENST00000394411.9	protein_coding		453		chr5	TogoVar
PPP2R3B_chrX_328933_391907	330874	G G	GTCGTCCC others(16): Show GTCGTCCCCCCCCCCGACGGGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0022 a0002c0001t0002g0022	1	12	0.0833	23	c.34 others(34): Show c.3492_*3493insGGCCCCGTCGGGGGGGGGGACGA	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding		3058		chrX	TogoVar
PPP2R3B_chrX_328933_391907	337481	G G	GGCAAAAG others(16): Show GGCAAAAGTGACCACGTCGCTCCA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0016 a0002c0001t0002g0016	1	24	0.0417	23	c.157 others(42): Show c.1577+1100_1577+1122dupTGGAGCGACGTGGTCACTTTTGC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	12/12			chrX	TogoVar
PPP2R5C_chr14_101756709_101932977	101924445	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02165.hp2 HG02056.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0060 a0001c0001t0001g0013 a0001c0001t0001g0060	2	22	0.0909	23	c.160 others(40): Show c.1609-684_1609-683insTTTTTTTTTTTTTTTTTTTTTTT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5E_chr14_63366364_63548377	63374634	G G	GATTATAT others(16): Show GATTATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02717.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0072 a0001c0001t0057 a0001c0001t0072	a0001c0001t0057g0080 a0001c0001t0072g0242 a0001c0001t0057g0080 a0001c0001t0072g0242	2	96	0.0208	23	c.13 others(34): Show c.1374_*1375insATATATATATATATATATATAAT	PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	14/14	1374		chr14	TogoVar
PPP3CA_chr4_101018418_101352526	101106450	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0170 a0001c0001t0058g0170	1	167	0.0060	23	c.384 others(40): Show c.384+2503_384+2504insCTTTCTTTCTTTCTTTCTTTCTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP3CC_chr8_22436078_22546125	22496485	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01433.hp1 NA20805.hp2 HG01261.hp1 HG01433.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0253 a0001c0001t0002g0292 a0001c0001t0002g0239 a0001c0001t0002g0253 a0001c0001t0002g0292	3	75	0.0400	23	c.373 others(40): Show c.373-1508_373-1486dupTTTTTTTTTTTTTTTTTTTTTTT	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP4R3A_chr14_91452508_91515310	91460952	G G	GTAGATGT others(16): Show GTAGATGTTTAATTTTCTTAACAA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0348 a0001c0001t0009g0348	1	368	0.0027	23	c.239 others(40): Show c.2391+406_2391+428dupTTGTTAAGAAAATTAAACATCTA	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	14/14			chr14	TogoVar
PPP4R3A_chr14_91452508_91515310	91468667	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02630.hp2 HG02738.hp1 others(3): Show HG00597.hp1 HG02630.hp2 HG02738.hp1 NA18970.hp2 NA18985.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0229 others(3): Show a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0257 a0001c0001t0001g0274 a0001c0001t0003g0245	6	26	0.2308	23	c.166 others(42): Show c.1660+2169_1660+2170insTTTTTTTTTTTTTTTTTTTTTTT	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	10/14			chr14	TogoVar
PPP4R3B_chr2_55542292_55622622	55615857	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02897.hp2 HG03471.hp1 others(1): Show HG01255.hp2 HG02897.hp2 HG03471.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0180 a0001c0001t0005g0178 a0001c0001t0005g0179 others(1): Show a0001c0001t0001g0180 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0181	4	107	0.0374	23	c.143 others(38): Show c.143-374_143-352dupTTTTTTTTTTTTTTTTTTTTTTT	PPP4R3B	ENSG00000275052.5	transcript	ENST00000616407.2	protein_coding	1/16			chr2	TogoVar
PPP6R1_chr19_55224779_55264017	55262391	C C	CAAGAGAA others(16): Show CAAGAGAACGGGGATGAGAGTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	376	0.0027	23	c.-39 others(34): Show c.-3986_-3964dupCTCACTCTCATCCCCGTTCTCTT	PPP6R1	ENSG00000105063.19	transcript	ENST00000412770.7	protein_coding		3375		chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50375832	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0298 a0002c0004t0009g0298	1	108	0.0093	23	c.-17 others(40): Show c.-17+3686_-17+3708dupTTTTTTTTTTTTTTTTTTTTTTT	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R3_chr11_68455752_68620334	68477741	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA20752.hp2 HG00741.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0170 a0001c0001t0004g0172	2	95	0.0211	23	c.-15 others(44): Show c.-158+16915_-158+16916insATATATATATATATATATATATA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68478647	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	3	0.3333	23	c.-15 others(44): Show c.-158+17823_-158+17845dupTTTTTTTTTTTTTTTTTTTTTTT	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68506414	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	11	0.0909	23	c.-15 others(44): Show c.-157-13075_-157-13053dupAAAAAAAAAAAAAAAAAAAAAAA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68511495	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03927.hp1 HG01261.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0005 a0001c0001t0012	a0001c0001t0005g0228 a0001c0001t0012g0218 a0001c0001t0005g0228 a0001c0001t0012g0218	2	247	0.0081	23	c.-15 others(42): Show c.-157-8006_-157-8005insGTGTGTGTGTGTGTGTGTGTGTG	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23			chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68534558	T T	TTGTATCT others(16): Show TTGTATCTTGATTCATAATTCAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02723.hp1 others(3): Show HG01884.hp1 HG02486.hp2 HG02723.hp1 HG03540.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0015 others(3): Show a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0018	6	250	0.0240	23	c.-6- others(38): Show c.-6-3100_-6-3078dupTGTATCTTGATTCATAATTCAGA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68573154	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0040 a0003c0003t0001g0040	1	232	0.0043	23	c.134 others(40): Show c.1344-955_1344-954insTATATATATATATATATATATAT	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	12/23			chr11	TogoVar
PPT2_chr6_32149141_32168675	32159451	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	370	0.0027	23	c.710 others(40): Show c.710+1528_710+1529insAAAAAAAAAAAAAAAAATATATA	PPT2	ENSG00000221988.13	transcript	ENST00000324816.11	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPT2_chr6_32149141_32168675	32159451	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0140 a0002c0002t0001g0140	1	370	0.0027	23	c.710 others(40): Show c.710+1528_710+1529insAAAAAAAAAAAAATATATATATA	PPT2	ENSG00000221988.13	transcript	ENST00000324816.11	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPT2_chr6_32149141_32168675	32159451	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0141 a0002c0002t0001g0141	1	370	0.0027	23	c.710 others(40): Show c.710+1528_710+1529insAAAAAAAAAAATATATATATATA	PPT2	ENSG00000221988.13	transcript	ENST00000324816.11	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPT2_chr6_32149141_32168675	32159451	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0128 a0002c0002t0001g0128	1	370	0.0027	23	c.710 others(40): Show c.710+1528_710+1529insAAAAAAAAATATATATATATATA	PPT2	ENSG00000221988.13	transcript	ENST00000324816.11	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPT2_chr6_32149141_32168675	32159451	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	370	0.0027	23	c.710 others(40): Show c.710+1528_710+1529insAAAAATATATATATATATATATA	PPT2	ENSG00000221988.13	transcript	ENST00000324816.11	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPWD1_chr5_65558296_65592549	65573458	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	379	0.0026	23	c.969 others(40): Show c.969+1172_969+1173insTATATATATATATATATATATAT	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding	5/10			chr5	TogoVar
PPWD1_chr5_65558296_65592549	65573476	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02486.hp2 HG02698.hp2 others(10): Show HG01952.hp1 HG02486.hp2 HG02698.hp2 HG02717.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG04228.hp1 NA18957.hp2 NA18973.hp2 NA18979.hp1 NA19000.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0013 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0074 a0001c0001t0001g0214 a0001c0001t0001g0218	13	278	0.0468	23	c.969 others(40): Show c.969+1190_969+1191insATATATATATATATATATATATA	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding	5/10			chr5	TogoVar
PRAMEF14_chr1_13336892_13352134	13349221	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	254	0.0039	23	c.-21 others(34): Show c.-2191_-2190insCTTTCTTTCTTTCTTTCTTTCTT	PRAMEF14	ENSG00000204481.8	transcript	ENST00000334600.7	protein_coding		2088		chr1	TogoVar
PRAMEF14_chr1_13336892_13352134	13349244	G G	GAGAAAGA others(16): Show GAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	249	0.0040	23	c.-22 others(34): Show c.-2214_-2213insTCTTTCTTTCTTTCTTTCTTTCT	PRAMEF14	ENSG00000204481.8	transcript	ENST00000334600.7	protein_coding		2111		chr1	TogoVar
PRAMEF14_chr1_13336892_13352134	13349251	A A	AGAAAAAG others(16): Show AGAAAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	125	0.0080	23	c.-22 others(34): Show c.-2221_-2220insCTTTCTTTCTTTCTTTCTTTTTC	PRAMEF14	ENSG00000204481.8	transcript	ENST00000334600.7	protein_coding		2118		chr1	TogoVar
PRAMEF14_chr1_13336892_13352134	13349272	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAGAAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	148	0.0068	23	c.-22 others(34): Show c.-2242_-2241insCCTTTCTTCTTTCTTTCTTTCTT	PRAMEF14	ENSG00000204481.8	transcript	ENST00000334600.7	protein_coding		2139		chr1	TogoVar
PRCC_chr1_156762535_156805815	156779129	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG06807.hp2 HG02965.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0321 a0001c0001t0001g0307 a0001c0001t0001g0321	2	290	0.0069	23	c.469 others(40): Show c.469-3153_469-3152insATATATATATATATATATATATA	PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	1/6			chr1	TogoVar

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