Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
PCBP3_chr21_45638725_45947450	45815972	ATGAGTGG others(50): Show ATGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTA GTGAGTGG	A A	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	292	0.0034	-57	c.-12 others(78): Show c.-125-33975_-125-33919delGTGAGTGAGTGGTGAGTGGTGAGT GAGTGGTGAGTAGTGAGTGGTGAGTGGTGAGTG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45908608	CGCCACGC others(50): Show CGCCACGCTCTGCAGCGAGCTCCGGAGCTGCCCTGTCACTGCCTCTGCCG CGCTGTCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03471.hp1 HG02280.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0004 a0001c0001t0015g0003 a0001c0001t0004g0004 a0001c0001t0015g0003	2	292	0.0069	-57	c.340 others(72): Show c.340-722_340-666delAGCTGCCCTGTCACTGCCTCTGCCGCGCTG TCTGCCACGCTCTGCAGCGAGCTCCGG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909796	CCCCCACC others(50): Show CCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATAC GGACCTGG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	292	0.0034	-57	c.471 others(72): Show c.471+313_471+369delCCACCCACTGCCCAGATACGGACCCGGCCC ACCCACTGCCCAGATACGGACCTGGCC		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCGF3_chr4_700832_775089	744816	GGGGGTCG others(50): Show GGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02165.hp2 HG03490.hp1 others(6): Show HG02040.hp2 HG02165.hp2 HG03490.hp1 HG03492.hp2 NA18942.hp1 NA18962.hp2 NA18983.hp2 NA18998.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0003t0005	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0156 others(6): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0156 a0001c0001t0002g0160 a0001c0001t0002g0182 a0001c0001t0006g0110 a0001c0001t0014g0026 a0001c0001t0014g0027 a0001c0003t0005g0126	9	366	0.0246	-57	c.462 others(72): Show c.462+150_462+206delTTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCCGGGGTCGCTGCAGTGTTAGTG		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744898	GCCGTGGA others(50): Show GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCT	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0278 a0001c0001t0008g0278	1	366	0.0027	-57	c.462 others(72): Show c.462+299_462+355delGGGGGTCGCTGCAGTGTTAGTGCTCTCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCC		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745214	CGGGGTCG others(50): Show CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02572.hp1 HG02717.hp2 others(2): Show HG01255.hp2 HG02572.hp1 HG02717.hp2 NA18522.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0058 a0002c0002t0002	a0001c0001t0002g0327 a0001c0001t0003g0318 a0001c0001t0008g0319 others(2): Show a0001c0001t0002g0327 a0001c0001t0003g0318 a0001c0001t0008g0319 a0001c0001t0058g0336 a0002c0002t0002g0321	5	366	0.0137	-57	c.462 others(72): Show c.462+548_462+604delCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTG		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745353	GCCGTGGA others(50): Show GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCT	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18944.hp1 NA18957.hp2 others(1): Show HG03942.hp1 NA18944.hp1 NA18957.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0030 a0001c0001t0042 others(1): Show a0001c0001t0006 a0001c0001t0030 a0001c0001t0042 a0001c0003t0015	a0001c0001t0006g0003 a0001c0001t0030g0088 a0001c0001t0042g0299 others(1): Show a0001c0001t0006g0003 a0001c0001t0030g0088 a0001c0001t0042g0299 a0001c0003t0015g0084	4	366	0.0109	-57	c.462 others(72): Show c.462+754_462+810delGGGGGTCGCTGCAGTGTTAGTGCTCTCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCC		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745467	TCCGTGGA others(50): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGCTCG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp2 HG04115.hp2 HG03098.hp1 HG03098.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0171 a0001c0001t0009g0325 a0001c0001t0009g0332 a0001c0001t0008g0171 a0001c0001t0009g0325 a0001c0001t0009g0332	3	366	0.0082	-57	c.462 others(72): Show c.462+811_462+867delCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCC		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745524	GCCGTGGA others(50): Show GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0248 a0001c0001t0009g0248	1	366	0.0027	-57	c.462 others(74): Show c.462+1007_462+1063delTCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTC		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745749	CTCGCCGT others(50): Show CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG04204.hp1 NA18944.hp1 others(4): Show HG00733.hp1 HG04204.hp1 NA18944.hp1 NA18968.hp1 NA18975.hp2 NA18978.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0001t0065 a0001c0001t0068	a0001c0001t0002g0175 a0001c0001t0006g0003 a0001c0001t0006g0096 others(4): Show a0001c0001t0002g0175 a0001c0001t0006g0003 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0013g0152 a0001c0001t0065g0107 a0001c0001t0068g0145	7	366	0.0191	-57	c.462 others(74): Show c.462+1096_462+1152delCGGGGTCGCTGCAGTGTTAGTGTTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCC		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745809	GCCGTGGA others(50): Show GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCT	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18960.hp2 NA18954.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0185 a0001c0001t0002g0148 a0001c0001t0002g0185	2	366	0.0055	-57	c.462 others(74): Show c.462+1178_462+1234delTCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTC		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745898	GGGGGTCG others(50): Show GGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0004 a0001c0003t0015g0004	1	366	0.0027	-57	c.462 others(74): Show c.462+1267_462+1323delCGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCC		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747289	GCCGTGGA others(50): Show GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03225.hp1 NA18979.hp2 others(3): Show HG00558.hp1 HG03225.hp1 NA18979.hp2 NA18980.hp1 NA19056.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0003t0005 a0001c0001t0012 a0001c0003t0005	a0001c0001t0012g0337 a0001c0003t0005g0121 a0001c0003t0005g0122 others(3): Show a0001c0001t0012g0337 a0001c0003t0005g0121 a0001c0003t0005g0122 a0001c0003t0005g0138 a0001c0003t0005g0141 a0001c0003t0005g0143	6	366	0.0164	-57	c.462 others(74): Show c.462+2658_462+2714delTCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTC		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747549	CGGGGTCG others(50): Show CGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0171 a0001c0001t0008g0171	1	366	0.0027	-57	c.462 others(74): Show c.462+2883_462+2939delTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTG		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747606	GGGGGTCG others(50): Show GGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0110 a0001c0001t0006g0110	1	366	0.0027	-57	c.462 others(74): Show c.462+2979_462+3035delGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCCGGG		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCNT_chr21_46319156_46450769	46413200	CCACCCGG others(50): Show CCACCCGGGAGAGGCTGGACACGCAGCAGCAAGGTGTGGGGAGGGGGAAG GCGTGAGG	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0087 a0006c0008t0001g0087	1	332	0.0030	-57	c.615 others(74): Show c.6150+210_6150+266delACCCGGGAGAGGCTGGACACGCAGCAGC AAGGTGTGGGGAGGGGGAAGGCGTGAGGC		PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDS5B_chr13_32581452_32783019	32748682	CCAGATCT others(50): Show CCAGATCTATTCTTTCTTGACATGTAGAGCCTATGTAAGTGTTAAATATA GTAGTTCA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0313 a0001c0001t0036g0313	1	334	0.0030	-57	c.273 others(76): Show c.2736+2606_2736+2662delTAGAGCCTATGTAAGTGTTAAATATA GTAGTTCACAGATCTATTCTTTCTTGACATG		PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	24/34					INFO_REALIGN_3_PRIME	chr13	TogoVar
PDXK_chr21_43714129_43767299	43741373	GGGGGGCT others(50): Show GGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGG GGGCTCGC	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	358	0.0028	-57	c.143 others(72): Show c.143-288_143-232delCTGGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGGCTCGCGGGGGGGCTCGCGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	977725	CCGACCAA others(50): Show CCGACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCGC CTCCCAAT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA18906.hp2 HG01256.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0022 a0001c0001 a0003c0022	a0001c0001t0001 a0003c0022t0004 a0001c0001t0001 a0003c0022t0004	a0001c0001t0001g0103 a0003c0022t0004g0077 a0001c0001t0001g0103 a0003c0022t0004g0077	2	408	0.0049	-57	c.214 others(76): Show c.2149+1099_2150-1102delATTGGGAGGCGGTTCCCGGGGTTGGT GGGGGTGGGAGGCGGTTCCCGGGGTTGGTCG		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PEX5_chr12_7184686_7216459	7196212	ATTATATA others(50): Show ATTATATATGTCATATATAATTTAATTATATGTCATATTTAATTATATAT GTCATAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00438.hp1 others(158): Show HG00099.hp2 HG00140.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18948.hp1 NA18952.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18971.hp2 NA18972.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19063.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0001c0009 others(2): Show a0001c0001 a0001c0005 a0001c0009 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0001t0019 a0001c0005t0001 a0001c0009t0001 a0002c0002t0001 a0002c0002t0007 a0002c0002t0009 a0002c0002t0014 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(134): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0297 a0001c0001t0007g0028 a0001c0001t0007g0163 a0001c0001t0007g0164 a0001c0001t0007g0165 a0001c0001t0007g0166 a0001c0001t0007g0209 a0001c0001t0010g0233 a0001c0001t0010g0295 a0001c0001t0010g0296 a0001c0001t0018g0052 a0001c0001t0019g0175 a0001c0005t0001g0008 a0001c0009t0001g0102 a0002c0002t0001g0162 a0002c0002t0007g0325 a0002c0002t0009g0332 a0002c0002t0009g0334 a0002c0002t0009g0335 a0002c0002t0014g0333 a0003c0004t0001g0161	161	428	0.3762	-57	c.449 others(74): Show c.449-2761_449-2705delTTAATTATATATGTCATAATTTATATAT GTCATATATAATTTAATTATATGTCATAT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PHACTR3_chr20_59599540_59852711	59674822	ACTTCTCC others(50): Show ACTTCTCCTGTTTCTGCCTTCTCCTGCCTTCTCCTGTTGCCCCTTCTCCT GTCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	250	0.0040	-57	c.119 others(76): Show c.119-68274_119-68218delTTCTGCCTTCTCCTGCCTTCTCCTGT TGCCCCTTCTCCTGTCCCCCGCTTCTCCTGT		PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
PHRF1_chr11_571470_617222	576745	GCTGGGAG others(50): Show GCTGGGAGGCCCCGCCGAGACTGGGAGGCCCCGCCGAGACTGGGAGGCCC CGCCGAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG01167.hp2 others(36): Show HG00280.hp1 HG00558.hp1 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01346.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01993.hp1 HG02015.hp2 HG02074.hp1 HG02132.hp2 HG02273.hp2 HG02300.hp1 HG02630.hp2 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03834.hp1 NA18941.hp2 NA18943.hp1 NA18947.hp2 NA18964.hp2 NA18969.hp1 NA18985.hp2 NA19000.hp2 NA19011.hp2 NA19079.hp2 NA19081.hp1 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0016 a0021	a0001c0001 a0001c0003 a0001c0006 others(7): Show a0001c0001 a0001c0003 a0001c0006 a0001c0023 a0002c0002 a0003c0004 a0003c0008 a0006c0010 a0016c0029 a0021c0035	a0001c0001t0001 a0001c0001t0006 a0001c0003t0005 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0003t0005 a0001c0006t0002 a0001c0023t0001 a0002c0002t0001 a0003c0004t0003 a0003c0008t0004 a0006c0010t0002 a0016c0029t0001 a0021c0035t0001	a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 others(36): Show a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0006g0241 a0001c0001t0006g0242 a0001c0003t0005g0014 a0001c0006t0002g0013 a0001c0023t0001g0231 a0002c0002t0001g0215 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0234 a0002c0002t0001g0246 a0003c0004t0003g0216 a0003c0004t0003g0222 a0003c0008t0004g0247 a0006c0010t0002g0010 a0006c0010t0002g0011 a0006c0010t0002g0012 a0006c0010t0002g0272 a0016c0029t0001g0217 a0021c0035t0001g0243	39	279	0.1398	-57	c.-22 others(72): Show c.-22+279_-22+335delCGCCGAGACTGGGAGGCCCCGCCGAGACTG GGAGGCCCCGCCGAGACTGGGAGGCCC		PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr11	TogoVar
PI4K2A_chr10_97635671_97681434	97678943	GTGTGTGT others(50): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	350	0.0029	-57	c.52 others(68): Show c.5202_*5258delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGT		PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding					2510		chr10	TogoVar
PIGU_chr20_34555542_34682092	34631747	ATATATAT others(50): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT TTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01192.hp2 HG01071.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0098 a0001c0001t0001g0099	2	320	0.0063	-57	c.529 others(74): Show c.529+2811_529+2867delAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATATATATATATA		PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11						chr20	TogoVar
PIP5K1C_chr19_3625183_3705468	3648693	GGGGATCC others(50): Show GGGGATCCCGCCCATCCTGGGGAGAGAGGCCGAGGGTACCATCAGCATCC CGCAGAGC	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG03491.hp1 HG03491.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0135 a0008c0009t0001g0135	1	332	0.0030	-57	c.112 others(69): Show c.1128-42_1142delGCTCTGCGGGATGCTGATGGTACCCTCGGCCTC TCTCCCCAGGATGGGCGGGATCCC	p.Met others(13): Show p.Met377_Pro381del	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	9/18	1220/5069	1128/2007	376/668			chr19	TogoVar
PLCB1_chr20_8127266_8889900	8514462	AGGAAAAA others(50): Show AGGAAAAAAGAAACCAGCCTGGGCAACATGGCAAAACTCCATCTCTACAG AAAAATAC	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0090 a0001c0003t0002g0090	1	106	0.0094	-57	c.247 others(78): Show c.247-113831_247-113775delGGAAAAAAGAAACCAGCCTGGGCA ACATGGCAAAACTCCATCTCTACAGAAAAATAC		PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31						chr20	TogoVar
PLEKHG4B_chr5_87168_194966	110166	GTGCACAC others(50): Show GTGCACACACCGGCCACTCTGCAACGCACATGCACACATCCATACAATCT GCAACACA	G G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18984.hp2 NA19066.hp1 NA18954.hp1 NA18984.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0025 a0002c0005t0003 a0002c0005t0075 a0001c0002t0025 a0002c0005t0003 a0002c0005t0075	a0001c0002t0025g0073 a0002c0005t0003g0096 a0002c0005t0075g0076 a0001c0002t0025g0073 a0002c0005t0003g0096 a0002c0005t0075g0076	3	210	0.0143	-57	c.46- others(72): Show c.46-3060_46-3004delGCACATGCACACATCCATACAATCTGCAAC ACATGCACACACCGGCCACTCTGCAAC		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHN1_chr1_961482_980865	977725	CCGACCAA others(50): Show CCGACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCGC CTCCCAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG04199.hp2 NA18906.hp2 HG01256.hp1 HG04199.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0019 a0001c0001 a0003c0019	a0001c0001t0014 a0003c0019t0001 a0003c0019t0004 a0001c0001t0014 a0003c0019t0001 a0003c0019t0004	a0001c0001t0014g0050 a0003c0019t0001g0035 a0003c0019t0004g0081 a0001c0001t0014g0050 a0003c0019t0001g0035 a0003c0019t0004g0081	3	422	0.0071	-57	c.31 others(68): Show c.3151_*3207delCGACCAACCCCGGGAACCGCCTCCCACCCCCACC AACCCCGGGAACCGCCTCCCAAT		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1861		chr1	TogoVar
PLPP2_chr19_276043_296403	288733	AAACCTCA others(50): Show AAACCTCATGTGGAATTTGGCAGTCACGTGTGGGACACTGGAATTGATTT CCCCCCAT	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0170	1	354	0.0028	-57	c.53- others(70): Show c.53-619_53-563delATGGGGGGAAATCAATTCCAGTGTCCCACACG TGACTGCCAAATTCCACATGAGGTT		PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding	1/5						chr19	TogoVar
POLR3B_chr12_106352748_106515198	106515045	TTTATTTG others(50): Show TTTATTTGCAGTAATGAACCACATGAGGGTGAGCACATTAGGGCTGGTGG CTGGGCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0205 a0001c0002t0002g0205	1	304	0.0033	-57	c.54 others(68): Show c.5497_*5553delTTATTTGCAGTAATGAACCACATGAGGGTGAGCA CATTAGGGCTGGTGGCTGGGCCC		POLR3B	ENSG00000013503.10	transcript	ENST00000228347.9	protein_coding					4848		chr12	TogoVar
POU2AF1_chr11_111347255_111384275	111353915	AGGAAAGG others(50): Show AGGAAAGGGAGAAGGGAAGGAGGGAAGGAAGGGAGGGAGGAAAAGGAAGG AAGGGGTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp1 HG01358.hp2 HG01496.hp2 others(13): Show HG01123.hp1 HG01358.hp2 HG01496.hp2 HG01978.hp2 HG01993.hp1 HG02055.hp1 HG02148.hp2 HG02273.hp2 HG02818.hp1 HG03704.hp2 HG04184.hp2 NA18998.hp1 NA19078.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0033 a0001c0001t0034 others(4): Show a0001c0001t0015 a0001c0001t0033 a0001c0001t0034 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064	a0001c0001t0015g0016 a0001c0001t0015g0041 a0001c0001t0015g0048 others(11): Show a0001c0001t0015g0016 a0001c0001t0015g0041 a0001c0001t0015g0048 a0001c0001t0015g0055 a0001c0001t0015g0072 a0001c0001t0015g0074 a0001c0001t0015g0076 a0001c0001t0033g0019 a0001c0001t0034g0075 a0001c0001t0034g0130 a0001c0001t0061g0181 a0001c0001t0062g0169 a0001c0001t0063g0290 a0001c0001t0064g0281	16	384	0.0417	-57	c.28 others(66): Show c.289_*345delAACCCCTTCCTTCCTTTTCCTCCCTCCCTTCCTTCC CTCCTTCCCTTCTCCCTTTCC		POU2AF1	ENSG00000110777.12	transcript	ENST00000393067.8	protein_coding	5/5				289		chr11	TogoVar
PPARGC1B_chr5_149725310_149860022	149809118	GATAGATA others(50): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCA TCTCTACC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	320	0.0031	-57	c.79- others(74): Show c.79-11154_79-11098delCCATCTCTACCATAGATAGATAGATAGA TAGATAGATAGATAGATAGATAGATAGAT		PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149809293	GATAGATA others(50): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCA TCTCTACC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00609.hp2 others(5): Show HG00099.hp1 HG00544.hp1 HG00609.hp2 HG01109.hp1 HG02155.hp2 HG02559.hp2 HG03041.hp1 NA18990.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0014 others(1): Show a0001c0001 a0002c0002 a0002c0014 a0004c0005	a0001c0001t0001 a0001c0001t0019 a0001c0001t0040 others(4): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0040 a0002c0002t0005 a0002c0002t0065 a0002c0014t0005 a0004c0005t0001	a0001c0001t0001g0076 a0001c0001t0001g0092 a0001c0001t0019g0073 others(5): Show a0001c0001t0001g0076 a0001c0001t0001g0092 a0001c0001t0019g0073 a0001c0001t0040g0065 a0002c0002t0005g0081 a0002c0002t0065g0051 a0002c0014t0005g0025 a0004c0005t0001g0161	8	320	0.0250	-57	c.79- others(74): Show c.79-11097_79-11041delAGATCCATCTCTACCATAGATAGATAGA TAGATAGATAGATAGATAGATAGATAGAT		PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149809440	CATAGATA others(50): Show CATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGATAG ATAGATAG	C C	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18948.hp2 NA19010.hp1 NA18943.hp1 NA18948.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0190 a0001c0001t0003g0182 a0001c0001t0012g0048 a0001c0001t0001g0190 a0001c0001t0003g0182 a0001c0001t0012g0048	3	320	0.0094	-57	c.79- others(74): Show c.79-10966_79-10910delCCATCTCTACCATAGATAGATAGATAGA TAGATAGATAGATAGATAGATAGATAGAT		PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
PPIAL4C_chr1_149578848_149589607	149583470	GAAAGAAA others(50): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00735.hp1 HG01099.hp2 others(5): Show HG00544.hp1 HG00735.hp1 HG01099.hp2 HG02486.hp2 HG02698.hp1 HG03486.hp2 HG03834.hp2 NA19240.hp2	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0004 a0005c0005 a0003c0003 a0004c0004 a0005c0005	a0003c0003t0002 a0004c0004t0003 a0005c0005t0003 others(1): Show a0003c0003t0002 a0004c0004t0003 a0005c0005t0003 a0005c0005t0005	a0003c0003t0002g0000 a0004c0004t0003g0000 a0005c0005t0003g0000 others(1): Show a0003c0003t0002g0000 a0004c0004t0003g0000 a0005c0005t0003g0000 a0005c0005t0005g0000	8	448	0.0179	-57	c.-42 others(66): Show c.-427_-371delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGA		PPIAL4C	ENSG00000288867.1	transcript	ENST00000585245.3	protein_coding					377		chr1	TogoVar
PPP2R3B_chrX_328933_391907	376734	ACCATGGG others(50): Show ACCATGGGGCTGTCTATACACTACTGTGTACAGGGACGGGCCGTCCACAG TGGGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03704.hp1 HG03834.hp1 others(4): Show HG02165.hp1 HG03704.hp1 HG03834.hp1 HG04199.hp1 NA19079.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0007 a0001c0007t0008 a0001c0001t0001 a0001c0001t0007 a0001c0007t0008	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0007g0016 a0001c0007t0008g0015	7	25	0.2800	-57	c.324 others(74): Show c.324+9577_324+9633delCGGCCCCACTGTGGACGGCCCGTCCCTG TACACAGTAGTGTATAGACAGCCCCATGG		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12						chrX	TogoVar
PPP2R3B_chrX_328933_391907	377317	CCAGTGGG others(50): Show CCAGTGGGGCCGCCATGGGGCTGTCTATACACTACTGTATGCAGGGACGG GCCGTCCA	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0011 a0009c0010t0011	a0009c0010t0011g0002 a0009c0010t0011g0002	1	25	0.0400	-57	c.324 others(74): Show c.324+8994_324+9050delTGGACGGCCCGTCCCTGCATACAGTAGT GTATAGACAGCCCCATGGCGGCCCCACTG		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12						chrX	TogoVar
PPP2R3B_chrX_328933_391907	377553	CCAGTGGG others(50): Show CCAGTGGGGCCACCATGGGGCTGTCTATACACTACTGTGTACAGGGACGG GCCGTCTA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18994.hp1 HG03704.hp2 NA18994.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0009c0010t0011 a0001c0001t0001 a0009c0010t0011	a0001c0001t0001g0004 a0009c0010t0011g0002 a0001c0001t0001g0004 a0009c0010t0011g0002	2	25	0.0800	-57	c.324 others(74): Show c.324+8758_324+8814delTAGACGGCCCGTCCCTGTACACAGTAGT GTATAGACAGCCCCATGGTGGCCCCACTG		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12						chrX	TogoVar
PRKACA_chr19_14086688_14122762	14088663	AAACTCAC others(50): Show AAACTCACCTGCTCTTGGAAAGCTGTCGCCTGCTCCGGGAATCCAGCCTC AGTAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	358	0.0028	-57	c.43 others(68): Show c.4392_*4448delATTTTACTGAGGCTGGATTCCCGGAGCAGGCGAC AGCTTTCCAAGAGCAGGTGAGTT		PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding					3024		chr19	TogoVar
PRKAG2_chr7_151551127_151882115	151874453	GATGTATA others(50): Show GATGTATATGTATATGTATATGATGTATATGTATATGATGTATATGTATA TGATGTAT	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03017.hp1 HG02735.hp1 HG03017.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0025 a0002c0004t0001g0035 a0001c0001t0002g0025 a0002c0004t0001g0035	2	252	0.0079	-57	c.114 others(74): Show c.114+1997_114+2053delATACATCATATACATATACATCATATAC ATATACATCATATACATATACATATACAT		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PRKCA_chr17_66297613_66815743	66798432	TGACGGTG others(50): Show TGACGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0168 a0001c0001t0065g0168	1	178	0.0056	-57	c.185 others(76): Show c.1855-5439_1855-5383delACGGTGGTGGTGGTGGTGACGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGACG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799106	ATGGTGAC others(50): Show ATGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGT GGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0089 a0001c0001t0021g0089	1	178	0.0056	-57	c.185 others(76): Show c.1855-4761_1855-4705delACGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGACGGTGGTGGTGGTGGTGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799226	GTGGTGGT others(50): Show GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0082 a0001c0003t0005g0082	1	178	0.0056	-57	c.185 others(76): Show c.1855-4629_1855-4573delATGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799334	ATGGTGGT others(50): Show ATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GATGGTGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02615.hp1 others(1): Show HG01884.hp2 HG02055.hp2 HG02615.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0014 a0001c0002t0064 a0001c0002t0009 a0001c0002t0014 a0001c0002t0064	a0001c0002t0009g0110 a0001c0002t0014g0041 a0001c0002t0014g0051 others(1): Show a0001c0002t0009g0110 a0001c0002t0014g0041 a0001c0002t0014g0051 a0001c0002t0064g0038	4	178	0.0225	-57	c.185 others(76): Show c.1855-4527_1855-4471delGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799397	GTGGTGAT others(50): Show GTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGT GGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0089 a0001c0001t0021g0089	1	178	0.0056	-57	c.185 others(76): Show c.1855-4470_1855-4414delATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799545	CGGTGGTG others(50): Show CGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	178	0.0056	-57	c.185 others(76): Show c.1855-4300_1855-4244delGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGATGGT		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCE_chr2_45646675_46192990	45744478	TTTCTTTC others(50): Show TTTCTTTCTTTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03688.hp1 NA18999.hp1 HG00558.hp2 HG03688.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0006 a0001c0001t0001 a0001c0001t0008 a0001c0002t0006	a0001c0001t0001g0137 a0001c0001t0008g0151 a0001c0002t0006g0013 a0001c0001t0001g0137 a0001c0001t0008g0151 a0001c0002t0006g0013	3	168	0.0179	-57	c.348 others(76): Show c.348+92041_348+92097delTTCTTTCTTTCTTTTCTTTCTTTCTT TCTTTCTTTCTTTTTCTTTCCTTCTTTCTTT		PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCZ_chr1_2045411_2190395	2106512	TCAGCAAG others(50): Show TCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCA GGTAACTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	286	0.0035	-57	c.335 others(76): Show c.335-28749_335-28693delCAGCAAGCCCCTCTGGTGGGCGAGGA CCTCCACACGTGTCACCAGGCCAGGTAACTC		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2121523	CATGGCAG others(50): Show CATGGCAGTAGTTAGGGTTATATCAGTAGTTAGGGCTATGGCTGTAGTTA GGGTGATG	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03654.hp1 HG04204.hp1 HG02602.hp2 HG03654.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001	a0001c0002t0001g0285 a0001c0002t0004g0215 a0001c0003t0001g0259 a0001c0002t0001g0285 a0001c0002t0004g0215 a0001c0003t0001g0259	3	286	0.0105	-57	c.335 others(76): Show c.335-13738_335-13682delATGGCAGTAGTTAGGGTTATATCAGT AGTTAGGGCTATGGCTGTAGTTAGGGTGATG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122138	CGTGGTGG others(50): Show CGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGG TGGTTAGG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0109 a0001c0003t0001g0109	1	286	0.0035	-57	c.335 others(76): Show c.335-13115_335-13059delTAGGGTCGTGGTGGTTAGGGTCGTGG TGGTTAGGGTTGTGGTGGTTAGGGTGGTGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar

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