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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PPP1R2B_chr5_156845295_156857528	156846438	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02145.hp2 HG02683.hp1 others(8): Show HG00639.hp1 HG02145.hp2 HG02683.hp1 HG02698.hp1 HG02965.hp2 HG03688.hp2 HG03704.hp1 NA18943.hp2 NA19001.hp2 NA19007.hp1 NA19010.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0005c0007t0018 a0001c0001t0001 a0001c0001t0002 a0005c0007t0018	a0001c0001t0001g0000 a0001c0001t0002g0000 a0005c0007t0018g0000 a0001c0001t0001g0000 a0001c0001t0002g0000 a0005c0007t0018g0000	11	430	0.0256	24	c.-41 others(35): Show c.-4125_-4124insGAAGGAAGGAAGGAAGGAAGGAAG		PPP1R2B	ENSG00000231989.5	transcript	ENST00000522232.3	protein_coding					3856		chr5	TogoVar
PPP1R2_chr3_195509428_195548325	195537481	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG04184.hp1 NA18957.hp2 HG00438.hp2 HG04184.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121	3	388	0.0077	24	c.122 others(41): Show c.122+5399_122+5422dupCACACACACACACACACACACACA		PPP1R2	ENSG00000184203.8	transcript	ENST00000618156.5	protein_coding	1/5						chr3	TogoVar
PPP1R2_chr3_195509428_195548325	195537481	T T	TTTTGTGT others(17): Show TTTTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01192.hp2 HG01884.hp2 others(6): Show HG01175.hp2 HG01192.hp2 HG01884.hp2 HG02559.hp1 HG02630.hp1 HG03209.hp2 HG03579.hp2 NA18939.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018	a0001c0001t0003g0155 a0001c0001t0003g0186 a0001c0001t0003g0218 others(6): Show a0001c0001t0003g0155 a0001c0001t0003g0186 a0001c0001t0003g0218 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0001t0011g0187 a0001c0001t0014g0259 a0001c0001t0018g0150	9	388	0.0232	24	c.122 others(41): Show c.122+5422_122+5423insCACACACACACACACACACACAAA		PPP1R2	ENSG00000184203.8	transcript	ENST00000618156.5	protein_coding	1/5						chr3	TogoVar
PPP1R2_chr3_195509428_195548325	195544349	G G	GACAGCTC others(17): Show GACAGCTCTGACTCTGGGAGTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	388	0.0026	24	c.-13 others(35): Show c.-1325_-1324insAAGAACTCCCAGAGTCAGAGCTGT		PPP1R2	ENSG00000184203.8	transcript	ENST00000618156.5	protein_coding					1025		chr3	TogoVar
PPP1R36_chr14_64544961_64594381	64554476	C C	CAAACCTA others(17): Show CAAACCTATCTGTTACAGATAGTTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02258.hp1 others(6): Show HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02293.hp1 HG02572.hp1 HG02809.hp2 HG02970.hp2 HG03579.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0263 a0002c0002t0002g0270 a0002c0002t0002g0271 others(6): Show a0002c0002t0002g0263 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0296 a0002c0002t0002g0297	9	328	0.0274	24	c.182 others(41): Show c.182+1616_182+1639dupAAACCTATCTGTTACAGATAGTTA		PPP1R36	ENSG00000165807.8	transcript	ENST00000298705.6	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP1R3A_chr7_113871777_113924009	113878297	A A	AATACAAA others(17): Show AATACAAAAAATTAGCCGGGCGAGG	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	NA20752.hp1 NA20752.hp1	a0020 a0020	a0020c0013 a0020c0013	a0020c0013t0002 a0020c0013t0002	a0020c0013t0002g0129 a0020c0013t0002g0129	1	294	0.0034	24	c.279 others(33): Show c.2794_2795insCCTCGCCCGGCTAATTTTTTGTAT	p.Ile others(36): Show p.Ile932delinsThrSerProGlyTerPhePheValPhe	PPP1R3A	ENSG00000154415.8	transcript	ENST00000284601.4	protein_coding	4/4	2807/4328	2794/3369	932/1122			chr7	TogoVar
PPP1R3F_chrX_49264793_49293090	49291316	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTGTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG01978.hp1 others(3): Show HG00099.hp1 HG00609.hp1 HG01978.hp1 HG02735.hp1 HG03239.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0025 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0081	6	288	0.0208	24	c.42 others(35): Show c.4226_*4227insTCTCTCTCTCTCTCTCTCTGTCTG		PPP1R3F	ENSG00000049769.14	transcript	ENST00000055335.11	protein_coding					3227		chrX	TogoVar
PPP1R3G_chr6_5080341_5094487	5090015	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	414	0.0024	24	c.34 others(35): Show c.3453_*3454insACACACACACACACACACACACAC		PPP1R3G	ENSG00000219607.4	transcript	ENST00000405617.4	protein_coding					529		chr6	TogoVar
PPP1R9A_chr7_94902594_95301400	95070593	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp2 HG03225.hp2 HG02451.hp2 HG02970.hp2 HG03225.hp2	a0001 a0001	a0001c0008 a0001c0015 a0001c0008 a0001c0015	a0001c0008t0002 a0001c0015t0002 a0001c0008t0002 a0001c0015t0002	a0001c0008t0002g0200 a0001c0015t0002g0159 a0001c0015t0002g0201 a0001c0008t0002g0200 a0001c0015t0002g0159 a0001c0015t0002g0201	3	290	0.0103	24	c.139 others(45): Show c.1396-40648_1396-40647insTATATATATATATATATATATATA		PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP1R9A_chr7_94902594_95301400	95070610	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp1 HG03098.hp1 others(1): Show HG01109.hp1 HG02145.hp1 HG03098.hp1 HG03486.hp2	a0001 a0010 a0001 a0010	a0001c0002 a0010c0016 a0001c0002 a0010c0016	a0001c0002t0003 a0001c0002t0005 a0010c0016t0008 a0001c0002t0003 a0001c0002t0005 a0010c0016t0008	a0001c0002t0003g0111 a0001c0002t0005g0219 a0010c0016t0008g0162 others(1): Show a0001c0002t0003g0111 a0001c0002t0005g0219 a0010c0016t0008g0162 a0010c0016t0008g0164	4	290	0.0138	24	c.139 others(45): Show c.1396-40648_1396-40647insTATATATATATATATATATATACA		PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP1R9A_chr7_94902594_95301400	95103362	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp1 HG03579.hp1 others(2): Show HG02451.hp2 HG02615.hp1 HG03579.hp1 NA18906.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0008 a0001c0015 others(1): Show a0001c0002 a0001c0008 a0001c0015 a0003c0003	a0001c0002t0003 a0001c0002t0010 a0001c0008t0002 others(2): Show a0001c0002t0003 a0001c0002t0010 a0001c0008t0002 a0001c0015t0002 a0003c0003t0006	a0001c0002t0003g0199 a0001c0002t0010g0017 a0001c0008t0002g0110 others(2): Show a0001c0002t0003g0199 a0001c0002t0010g0017 a0001c0008t0002g0110 a0001c0015t0002g0201 a0003c0003t0006g0197	5	290	0.0172	24	c.139 others(43): Show c.1396-7879_1396-7878insTTTTTTTTTTTTTTTTTTTTTTTT		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(17): Show AAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	304	0.0033	24	c.15 others(35): Show c.1572_*1573insATATATATATTTTTTTTTTTTTTT		PPP2CB	ENSG00000104695.13	transcript	ENST00000221138.9	protein_coding					953		chr8	TogoVar
PPP2CB_chr8_30780616_30817818	30784686	T T	TATACACA others(17): Show TATACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0106 a0001c0001t0010g0106	1	304	0.0033	24	c.15 others(35): Show c.1548_*1549insGTGTGTGTGTGTGTGTGTGTGTAT		PPP2CB	ENSG00000104695.13	transcript	ENST00000221138.9	protein_coding					929		chr8	TogoVar
PPP2CB_chr8_30780616_30817818	30784686	T T	TATATATA others(17): Show TATATATACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	304	0.0033	24	c.15 others(35): Show c.1548_*1549insGTGTGTGTGTGTGTGTGTATATAT		PPP2CB	ENSG00000104695.13	transcript	ENST00000221138.9	protein_coding					929		chr8	TogoVar
PPP2CB_chr8_30780616_30817818	30784686	T T	TATATATA others(17): Show TATATATATATACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG03704.hp1 HG00621.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0137 a0001c0001t0003g0002 a0001c0001t0003g0137	2	304	0.0066	24	c.15 others(35): Show c.1548_*1549insGTGTGTGTGTGTGTATATATATAT		PPP2CB	ENSG00000104695.13	transcript	ENST00000221138.9	protein_coding					929		chr8	TogoVar
PPP2R1A_chr19_52185052_52234518	52206898	T T	TCGCTAGA others(17): Show TCGCTAGAGATACAATGTGGCACCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	384	0.0026	24	c.270 others(39): Show c.270+858_270+859insACGCTAGAGATACAATGTGGCACC		PPP2R1A	ENSG00000105568.19	transcript	ENST00000322088.11	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP2R1B_chr11_111732877_111771389	111768842	C C	CGCGTGTG others(17): Show CGCGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0219 a0001c0001t0024g0219	1	358	0.0028	24	c.-24 others(35): Show c.-2482_-2481insACACACACACACACACACACACGC		PPP2R1B	ENSG00000137713.16	transcript	ENST00000527614.6	protein_coding					2454		chr11	TogoVar
PPP2R2B_chr5_146575742_146883757	146781131	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0029 a0001c0001t0045g0029	1	170	0.0059	24	c.71- others(41): Show c.71-80013_71-79990dupATATATATATATATATATATATAT		PPP2R2B	ENSG00000156475.19	transcript	ENST00000394411.9	protein_coding	2/9						chr5	TogoVar
PPP2R2B_chr5_146575742_146883757	146878727	A A	AGCTGCTG others(17): Show AGCTGCTGCTGCTGCTGCTGCTGCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02559.hp1 HG02970.hp1 NA18975.hp1 others(2): Show HG02559.hp1 HG02970.hp1 NA18975.hp1 NA19058.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 others(2): Show a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029	a0001c0001t0025g0006 a0001c0001t0026g0003 a0001c0001t0027g0002 others(2): Show a0001c0001t0025g0006 a0001c0001t0026g0003 a0001c0001t0027g0002 a0001c0001t0028g0004 a0001c0001t0029g0005	5	170	0.0294	24	c.-28 others(33): Show c.-285_-262dupAGCAGCAGCAGCAGCAGCAGCAGC		PPP2R2B	ENSG00000156475.19	transcript	ENST00000394411.9	protein_coding	1/10				657		chr5	TogoVar
PPP2R2C_chr4_6315581_6477614	6337112	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0178 a0001c0002t0013g0178	1	298	0.0034	24	c.791 others(41): Show c.791-3382_791-3381insTATATATATATATATATATATACA		PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8						chr4	TogoVar
PPP2R2D_chr10_131896008_131964834	131901020	C C	CCGGCGGC others(17): Show CCGGCGGCGGCGGCGGCGGCGGCGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0108 a0001c0001t0103g0108	1	394	0.0025	24	c.-12 others(33): Show c.-126_-103dupGCGGCGGCGGCGGCGGCGGCGGCG		PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	1/9				102	INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131952770	T T	TGACTTTC others(17): Show TGACTTTCGGGTGTGTGGGGGTTCA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0131 a0001c0001t0108g0131	1	394	0.0025	24	c.108 others(43): Show c.1083-2914_1083-2913insGACTTTCGGGTGTGTGGGGGTTCA		PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8						chr10	TogoVar
PPP2R3A_chr3_135960728_136152894	136087245	G G	GTCTCTCT others(17): Show GTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02976.hp1 HG02523.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0011 a0001c0001t0001 a0002c0002t0011	a0001c0001t0001g0180 a0002c0002t0011g0106 a0001c0001t0001g0180 a0002c0002t0011g0106	2	238	0.0084	24	c.278 others(41): Show c.2789-607_2789-584dupTCTCTCTCTCTCTCTCTCTCTCTC		PPP2R3A	ENSG00000073711.11	transcript	ENST00000264977.8	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R3A_chr3_135960728_136152894	136108212	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03098.hp1 HG03041.hp1 HG03098.hp1	a0003 a0011 a0003 a0011	a0003c0010 a0011c0013 a0003c0010 a0011c0013	a0003c0010t0003 a0011c0013t0013 a0003c0010t0003 a0011c0013t0013	a0003c0010t0003g0221 a0011c0013t0013g0218 a0003c0010t0003g0221 a0011c0013t0013g0218	2	238	0.0084	24	c.332 others(43): Show c.3329+1905_3329+1906insCACACACACACACACACACACACA		PPP2R3A	ENSG00000073711.11	transcript	ENST00000264977.8	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R3A_chr3_135960728_136152894	136136073	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0134 a0002c0002t0013g0134	1	238	0.0042	24	c.333 others(43): Show c.3330-8970_3330-8969insAAAAAAAAATATATATATATATAT		PPP2R3A	ENSG00000073711.11	transcript	ENST00000264977.8	protein_coding	13/13						chr3	TogoVar
PPP2R3A_chr3_135960728_136152894	136137534	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp2 HG03239.hp1 others(4): Show HG00741.hp2 HG01099.hp2 HG03239.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 NA20752.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0076 a0003c0003t0001g0028 a0003c0003t0001g0029 others(4): Show a0002c0002t0002g0076 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0037 a0003c0003t0001g0041	7	238	0.0294	24	c.333 others(43): Show c.3330-7507_3330-7484dupTTTTTTTTTTTTTTTTTTTTTTTT		PPP2R3A	ENSG00000073711.11	transcript	ENST00000264977.8	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R3B_chrX_328933_391907	339978	C C	CGGGGGGG others(17): Show CGGGGGGGTGAGAGGGGAGGAGATG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0008 a0002c0002t0012g0008	1	25	0.0400	24	c.135 others(41): Show c.1351+763_1351+786dupCATCTCCTCCCCTCTCACCCCCCC		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12						chrX	TogoVar
PPP2R3B_chrX_328933_391907	382507	C C	CACTGCCC others(17): Show CACTGCCCGTCATCCCTCCCAGAAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp1 HG02630.hp2 HG02965.hp1	a0005 a0006 a0005 a0006	a0005c0012 a0006c0013 a0005c0012 a0006c0013	a0005c0012t0010 a0006c0013t0006 a0005c0012t0010 a0006c0013t0006	a0005c0012t0010g0024 a0006c0013t0006g0025 a0005c0012t0010g0024 a0006c0013t0006g0025	2	25	0.0800	24	c.324 others(41): Show c.324+3860_324+3861insATTCTGGGAGGGATGACGGGCAGT		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12						chrX	TogoVar
PPP2R5A_chr1_212280410_212366853	212316587	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0089 a0001c0004t0002g0089	1	384	0.0026	24	c.182 others(43): Show c.182-12545_182-12522dupTTTTTTTTTTTTTTTTTTTTTTTT		PPP2R5A	ENSG00000066027.12	transcript	ENST00000261461.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
PPP2R5C_chr14_101756709_101932977	101764028	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18969.hp1 NA19081.hp1 HG00558.hp1 NA18969.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0010 a0002c0002t0003 a0001c0001t0003 a0001c0001t0010 a0002c0002t0003	a0001c0001t0003g0138 a0001c0001t0010g0133 a0002c0002t0003g0134 a0001c0001t0003g0138 a0001c0001t0010g0133 a0002c0002t0003g0134	3	138	0.0217	24	c.93+ others(39): Show c.93+1059_93+1060insTGTGTGTGTGTGCGCGCGCGCGCG		PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101779867	T T	TTCTGATT others(17): Show TTCTGATTGTCTGGTCTATAGAGGC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	138	0.0073	24	c.94- others(39): Show c.94-6149_94-6126dupCTGATTGTCTGGTCTATAGAGGCT		PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101924445	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02132.hp1 NA19079.hp2 HG01243.hp1 HG02132.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0096 a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0096	3	138	0.0217	24	c.160 others(41): Show c.1609-684_1609-683insTTTTTTTTTTTTTTTTTTTTTTTT		PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5E_chr14_63366364_63548377	63430385	A A	ACATACAT others(17): Show ACATACATACATGCATACATACATG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0236 a0001c0001t0065g0236	1	252	0.0040	24	c.355 others(41): Show c.355-8292_355-8291insCATGTATGTATGCATGTATGTATG		PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	3/13						chr14	TogoVar
PPP2R5E_chr14_63366364_63548377	63430393	A A	ACATGCAT others(17): Show ACATGCATACATACATACATACATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp1 HG02145.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0075 a0001c0001t0024 a0001c0001t0075	a0001c0001t0024g0229 a0001c0001t0075g0231 a0001c0001t0024g0229 a0001c0001t0075g0231	2	252	0.0079	24	c.355 others(41): Show c.355-8300_355-8299insCATGTATGTATGTATGTATGCATG		PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	3/13						chr14	TogoVar
PPP2R5E_chr14_63366364_63548377	63430401	G G	GCATACAT others(17): Show GCATACATACATACATACATGCATA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0220 a0001c0001t0014g0220	1	252	0.0040	24	c.355 others(41): Show c.355-8331_355-8308dupTATGCATGTATGTATGTATGTATG		PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	3/13						chr14	TogoVar
PPP2R5E_chr14_63366364_63548377	63430405	A A	ACATACAT others(17): Show ACATACATACATACATGCATACATG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0235 a0001c0001t0023g0235	1	252	0.0040	24	c.355 others(41): Show c.355-8312_355-8311insCATGTATGCATGTATGTATGTATG		PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	3/13						chr14	TogoVar
PPP3CA_chr4_101018418_101352526	101124725	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0011 a0001c0001t0035g0011	1	192	0.0052	24	c.260 others(43): Show c.260-15648_260-15647insTTCTCTTTCTTTCTTTCTTTCTTT		PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	2/13						chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101124725	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0147 a0001c0001t0008g0147	1	192	0.0052	24	c.260 others(43): Show c.260-15648_260-15647insTTCTTTCTCTTTCTTTCTTTCTTT		PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	2/13						chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101278122	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0102 a0001c0004t0011g0102	1	192	0.0052	24	c.58+ others(41): Show c.58+68616_58+68617insTTTTTTTTTTTTTTTTTTTTTTTT		PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	1/13						chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101317253	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0014 a0001c0001t0009g0014	1	192	0.0052	24	c.58+ others(41): Show c.58+29462_58+29485dupGTGTGTGTGTGTGTGTGTGTGTGT		PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	1/13						chr4	TogoVar
PPP3CB_chr10_73431433_73501024	73443286	C C	CAGAAAGA others(17): Show CAGAAAGAAAGAAAGAAAGACAGAA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	202	0.0050	24	c.136 others(43): Show c.1366+1438_1366+1439insTTCTGTCTTTCTTTCTTTCTTTCT		PPP3CB	ENSG00000107758.16	transcript	ENST00000360663.10	protein_coding	12/13						chr10	TogoVar
PPP3CB_chr10_73431433_73501024	73485950	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	202	0.0050	24	c.86- others(39): Show c.86-6434_86-6433insTACACACACACACACACACACACA		PPP3CB	ENSG00000107758.16	transcript	ENST00000360663.10	protein_coding	1/13						chr10	TogoVar
PPP3CB_chr10_73431433_73501024	73489408	C C	CAATAATA others(17): Show CAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG01346.hp1 others(9): Show HG00735.hp1 HG01243.hp1 HG01346.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG03098.hp2 HG03239.hp1 HG03491.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0021 a0001c0001t0001g0046 a0001c0001t0001g0047 others(9): Show a0001c0001t0001g0021 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0007g0016	12	202	0.0594	24	c.85+ others(39): Show c.85+6373_85+6396dupATTATTATTATTATTATTATTATT		PPP3CB	ENSG00000107758.16	transcript	ENST00000360663.10	protein_coding	1/13						chr10	TogoVar
PPP3CC_chr8_22436078_22546125	22472363	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02698.hp1 NA18906.hp1 others(1): Show HG01891.hp1 HG02698.hp1 NA18906.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0003g0026 a0001c0001t0005g0074 a0001c0001t0005g0081 others(1): Show a0001c0001t0003g0026 a0001c0001t0005g0074 a0001c0001t0005g0081 a0001c0001t0006g0226	4	326	0.0123	24	c.50- others(39): Show c.50-2570_50-2547dupACACACACACACACACACACACAC		PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP3CC_chr8_22436078_22546125	22525491	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	326	0.0031	24	c.944 others(41): Show c.944-1876_944-1853dupTTCTTTCTTTCTTTCTTTCTTTCT		PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP3R2_chr9_101586604_101599969	101596738	T T	TTGTTCGG others(17): Show TTGTTCGGAGGAGCAGGGGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0000 a0001c0001t0037g0000	1	448	0.0022	24	c.-18 others(35): Show c.-1818_-1817insTCCCCCCCCCTGCTCCTCCGAACA		PPP3R2	ENSG00000188386.8	transcript	ENST00000374806.2	protein_coding					1770		chr9	TogoVar
PPP4R2_chr3_72991811_73074198	73066239	C C	CATACATA others(17): Show CATACATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0051 a0001c0002t0062g0051	1	360	0.0028	24	c.52 others(33): Show c.520_*521insCATATATATATATATATATATATA		PPP4R2	ENSG00000163605.16	transcript	ENST00000356692.10	protein_coding	9/9				521	INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP4R3A_chr14_91452508_91515310	91466940	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03704.hp1 HG02055.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0290 a0001c0001t0002g0050 a0001c0001t0001g0290 a0001c0001t0002g0050	2	370	0.0054	24	c.166 others(43): Show c.1661-1545_1661-1522dupGTGTGTGTGTGTGTGTGTGTGTGT		PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	10/14						chr14	TogoVar
PPP4R3A_chr14_91452508_91515310	91468667	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18906.hp1 NA19009.hp2 others(1): Show HG03453.hp1 NA18906.hp1 NA19009.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0259 a0001c0001t0001g0267 others(1): Show a0001c0001t0001g0246 a0001c0001t0001g0259 a0001c0001t0001g0267 a0001c0001t0001g0275	4	370	0.0108	24	c.166 others(43): Show c.1660+2169_1660+2170insTTTTTTTTTTTTTTTTTTTTTTTT		PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	10/14						chr14	TogoVar
PPP4R3A_chr14_91452508_91515310	91472824	A A	ACAACCAA others(17): Show ACAACCAACCAACCAACCAACCAAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	370	0.0027	24	c.150 others(41): Show c.1501+185_1501+208dupGTTGGTTGGTTGGTTGGTTGGTTG		PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	9/14						chr14	TogoVar

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