Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
PAX6_chr11_31784026_31816322	31814990	G G	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01891.hp2 HG02155.hp1 others(7): Show HG00597.hp1 HG01891.hp2 HG02155.hp1 HG02602.hp1 HG02965.hp2 HG03710.hp2 NA18940.hp2 NA18988.hp1 NA19074.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0022 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0097 a0001c0001t0003g0066 a0001c0001t0012g0092	10	376	0.0266	18	c.-42 others(29): Show c.-4210_-4193dupGAGAGAGAGAGAGAGAGA		PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding					3669		chr11	TogoVar
PAX7_chr1_18625846_18753866	18685898	T T	TCCATCAC others(11): Show TCCATCACCATCACCATCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03041.hp1 HG02976.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0017 a0001c0002t0003 a0001c0002t0017	a0001c0002t0003g0054 a0001c0002t0017g0283 a0001c0002t0003g0054 a0001c0002t0017g0283	2	302	0.0066	18	c.587 others(35): Show c.587-5834_587-5817dupTCACCATCACCATCACCA		PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PBK_chr8_27804624_27842817	27816343	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG01192.hp1 others(9): Show HG00558.hp2 HG00597.hp2 HG01192.hp1 HG01346.hp2 HG02027.hp2 HG02080.hp2 HG04204.hp2 NA18955.hp1 NA18991.hp1 NA19083.hp1 NA19086.hp1 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0002 a0002c0002t0005 a0002c0005t0002 a0002c0002t0002 a0002c0002t0005 a0002c0005t0002	a0002c0002t0002g0051 a0002c0002t0002g0062 a0002c0002t0002g0069 others(9): Show a0002c0002t0002g0051 a0002c0002t0002g0062 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0081 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0094 a0002c0002t0005g0057 a0002c0005t0002g0130 a0002c0005t0002g0132 a0002c0005t0002g0133	12	392	0.0306	18	c.595 others(35): Show c.595+4221_595+4222insTATATATATATATATATA		PBK	ENSG00000168078.10	transcript	ENST00000301905.9	protein_coding	6/7						chr8	TogoVar
PBLD_chr10_68277660_68337928	68289663	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01071.hp1 HG02622.hp2 others(3): Show HG00609.hp2 HG01071.hp1 HG02622.hp2 HG03834.hp1 NA18970.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0105 a0001c0001t0001g0226 others(3): Show a0001c0001t0001g0060 a0001c0001t0001g0105 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0242	6	364	0.0165	18	c.424 others(33): Show c.424-662_424-645dupTGTGTGTGTGTGTGTGTG		PBLD	ENSG00000108187.16	transcript	ENST00000358769.7	protein_coding	6/9						chr10	TogoVar
PBLD_chr10_68277660_68337928	68308845	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02976.hp1 HG02622.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0087 a0001c0001t0001g0060 a0001c0001t0001g0087	2	364	0.0055	18	c.-59 others(35): Show c.-59-1960_-59-1943dupACACACACACACACACAC		PBLD	ENSG00000108187.16	transcript	ENST00000358769.7	protein_coding	1/9						chr10	TogoVar
PBLD_chr10_68277660_68337928	68319053	G G	GAGAGAAA others(11): Show GAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0333 a0002c0003t0002g0333	1	364	0.0028	18	c.-59 others(37): Show c.-59-12151_-59-12150insTTCTTTCTTTCTTTCTCT		PBLD	ENSG00000108187.16	transcript	ENST00000358769.7	protein_coding	1/9						chr10	TogoVar
PBLD_chr10_68277660_68337928	68319053	G G	GAGAGAGA others(11): Show GAGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03098.hp1 HG03239.hp2 HG01361.hp2 HG03098.hp1 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0073 a0002c0002t0002g0170 a0002c0002t0002g0172 a0002c0002t0002g0073 a0002c0002t0002g0170 a0002c0002t0002g0172	3	364	0.0082	18	c.-59 others(37): Show c.-59-12151_-59-12150insTTCTTTCTTTCTCTCTCT		PBLD	ENSG00000108187.16	transcript	ENST00000358769.7	protein_coding	1/9						chr10	TogoVar
PBRM1_chr3_52540367_52690913	52542619	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01346.hp2 HG02135.hp1 others(4): Show HG00738.hp1 HG01346.hp2 HG02135.hp1 HG02698.hp2 HG03239.hp1 NA18946.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0121 a0001c0001t0002g0008 a0001c0001t0002g0018 others(4): Show a0001c0001t0001g0121 a0001c0001t0002g0008 a0001c0001t0002g0018 a0001c0001t0002g0064 a0001c0001t0002g0084 a0001c0001t0002g0097 a0001c0001t0008g0112	7	300	0.0233	18	c.54 others(29): Show c.5426_*5443dupTTTTTTTTTTTTTTTTTT		PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding					2747		chr3	TogoVar
PBRM1_chr3_52540367_52690913	52584450	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0255 a0001c0003t0001g0255	1	300	0.0033	18	c.343 others(37): Show c.3432+1957_3432+1974dupAAAAAAAAAAAAAAAAAA		PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	22/31						chr3	TogoVar
PBRM1_chr3_52540367_52690913	52596436	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0276 a0001c0004t0001g0276	1	300	0.0033	18	c.282 others(37): Show c.2824+7067_2824+7084dupTTTTTTTTTTTTTTTTTT		PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	19/31						chr3	TogoVar
PBRM1_chr3_52540367_52690913	52612258	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA20752.hp1 HG02074.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0163 a0001c0002t0001g0171 a0001c0002t0001g0163 a0001c0002t0001g0171	2	300	0.0067	18	c.197 others(37): Show c.1970-2321_1970-2304dupTTTTTTTTTTTTTTTTTT		PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	17/31						chr3	TogoVar
PBRM1_chr3_52540367_52690913	52637773	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp1 HG03654.hp2 others(1): Show HG00642.hp2 HG01099.hp1 HG03654.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0208 a0001c0002t0001g0229 a0001c0002t0003g0149 others(1): Show a0001c0002t0001g0208 a0001c0002t0001g0229 a0001c0002t0003g0149 a0001c0002t0003g0150	4	300	0.0133	18	c.108 others(37): Show c.1088-2976_1088-2959dupTTTTTTTTTTTTTTTTTT		PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31						chr3	TogoVar
PBRM1_chr3_52540367_52690913	52637794	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0191	1	300	0.0033	18	c.108 others(37): Show c.1088-2980_1088-2979insCTTTTTTTTTTTTTTTTT		PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31						chr3	TogoVar
PBX1_chr1_164554184_164856831	164562452	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18942.hp2 NA18966.hp2 others(1): Show NA18941.hp1 NA18942.hp2 NA18966.hp2 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0010 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0010 a0002c0002t0025	a0001c0001t0001g0027 a0002c0002t0001g0115 a0002c0002t0010g0095 others(1): Show a0001c0001t0001g0027 a0002c0002t0001g0115 a0002c0002t0010g0095 a0002c0002t0025g0114	4	184	0.0217	18	c.192 others(33): Show c.192-761_192-744dupACACACACACACACACAC		PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164603929	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	184	0.0054	18	c.265 others(37): Show c.265+40634_265+40651dupTTTTTTTTTTTTTTTTTT		PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164707418	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0026 a0001c0001t0009g0026	1	184	0.0054	18	c.266 others(37): Show c.266-85055_266-85038dupGAGAGAGAGAGAGAGAGA		PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164716685	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01361.hp1 HG01978.hp2 others(5): Show HG01167.hp1 HG01361.hp1 HG01978.hp2 HG02735.hp1 HG03704.hp2 HG03834.hp1 HG06807.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0023 a0001c0001t0035 a0002c0002t0002	a0001c0001t0001g0065 a0001c0001t0010g0072 a0001c0001t0012g0040 others(5): Show a0001c0001t0001g0065 a0001c0001t0010g0072 a0001c0001t0012g0040 a0001c0001t0017g0088 a0001c0001t0023g0071 a0001c0001t0035g0076 a0002c0002t0002g0049 a0002c0002t0002g0161	8	184	0.0435	18	c.266 others(37): Show c.266-75781_266-75764dupCACACACACACACACACA		PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164773241	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18957.hp2 NA18980.hp1 others(1): Show HG02055.hp2 NA18957.hp2 NA18980.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0015 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0001c0001t0015g0036 a0002c0002t0001g0130 a0002c0002t0002g0106 others(1): Show a0001c0001t0015g0036 a0002c0002t0001g0130 a0002c0002t0002g0106 a0002c0002t0003g0068	4	184	0.0217	18	c.266 others(37): Show c.266-19252_266-19251insACACACACACACACACAC		PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164773243	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02056.hp1 HG02486.hp1 others(5): Show HG01106.hp2 HG02056.hp1 HG02486.hp1 HG02895.hp1 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0002c0002t0002	a0001c0001t0001g0014 a0001c0001t0001g0166 a0001c0001t0001g0181 others(5): Show a0001c0001t0001g0014 a0001c0001t0001g0166 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0006g0176 a0001c0001t0013g0069 a0001c0001t0015g0047 a0002c0002t0002g0092	8	184	0.0435	18	c.266 others(37): Show c.266-19238_266-19221dupCACACACACACACACACA		PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164786718	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0176 a0001c0001t0006g0176	1	184	0.0054	18	c.266 others(35): Show c.266-5773_266-5772insTGTGTGTGTGTGCGCGTG		PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164786720	T T	TGTGTGTG others(11): Show TGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0033 a0001c0003t0003g0033	1	184	0.0054	18	c.266 others(35): Show c.266-5773_266-5772insTGTGTGCGCGCGCGCGCG		PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164786720	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0041 a0001c0001t0033g0041	1	184	0.0054	18	c.266 others(35): Show c.266-5773_266-5772insTGTGTGTGTGTGCGCGCG		PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164834029	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG02004.hp1 others(5): Show HG00140.hp1 HG01099.hp1 HG02004.hp1 HG02572.hp1 HG03098.hp2 HG06807.hp1 NA18980.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 a0002c0002t0002 a0002c0002t0003	a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0063 others(5): Show a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0063 a0001c0001t0002g0113 a0001c0001t0003g0164 a0001c0003t0003g0033 a0002c0002t0002g0099 a0002c0002t0003g0068	8	184	0.0435	18	c.120 others(39): Show c.1200+12427_1200+12444dupGTGTGTGTGTGTGTGTGT		PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX3_chr9_125742373_125972377	125801790	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0096 a0001c0001t0007g0096	1	294	0.0034	18	c.274 others(37): Show c.274+53185_274+53202dupCACACACACACACACACA		PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX3_chr9_125742373_125972377	125928392	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0134 a0001c0002t0013g0134	1	294	0.0034	18	c.517 others(35): Show c.517-1249_517-1232dupGTGTGTGTGTGTGTGTGT		PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX4_chr19_19556713_19623687	19605416	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02809.hp2 HG00735.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0194 a0001c0001t0001g0201	2	376	0.0053	18	c.120 others(35): Show c.120-6069_120-6052dupATTATTATTATTATTATT		PBX4	ENSG00000105717.14	transcript	ENST00000251203.14	protein_coding	1/7						chr19	TogoVar
PCBD2_chr5_134900131_134967644	134904246	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG03516.hp2 HG03579.hp1 others(1): Show HG02615.hp1 HG03516.hp2 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 others(1): Show a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0025	a0001c0001t0011g0296 a0001c0001t0016g0019 a0001c0001t0017g0019 others(1): Show a0001c0001t0011g0296 a0001c0001t0016g0019 a0001c0001t0017g0019 a0001c0001t0025g0299	4	330	0.0121	18	c.-89 others(27): Show c.-894_-893insAAAAAAAAAAAAAAAAAA		PCBD2	ENSG00000132570.15	transcript	ENST00000254908.11	protein_coding					884		chr5	TogoVar
PCBD2_chr5_134900131_134967644	134962072	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0297 a0001c0001t0027g0297	1	330	0.0030	18	c.14 others(29): Show c.1409_*1426dupGTGTGTGTGTGTGTGTGT		PCBD2	ENSG00000132570.15	transcript	ENST00000254908.11	protein_coding	4/4				1427	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCBP2_chr12_53447102_53486162	53468917	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0279 a0001c0001t0021g0279	1	348	0.0029	18	c.882 others(32): Show c.882+87_882+104dupTTTTTTTTTTTTTTTTTT		PCBP2	ENSG00000197111.16	transcript	ENST00000546463.6	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
PCBP2_chr12_53447102_53486162	53479668	C C	CTGGTTTT others(11): Show CTGGTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG00738.hp2 HG01175.hp1 others(16): Show HG00438.hp1 HG00738.hp2 HG01175.hp1 HG01256.hp2 HG02056.hp1 HG02056.hp2 HG02602.hp2 HG02735.hp2 HG03654.hp2 HG04115.hp2 NA18522.hp2 NA18968.hp2 NA18971.hp2 NA18991.hp1 NA19007.hp2 NA19011.hp2 NA19062.hp2 NA19065.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0034 a0001c0001t0003 a0001c0001t0034	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0016 others(14): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0016 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0088 a0001c0001t0003g0091 a0001c0001t0003g0124 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0161 a0001c0001t0003g0185 a0001c0001t0003g0190 a0001c0001t0003g0223 a0001c0001t0003g0225 a0001c0001t0003g0248 a0001c0001t0034g0045	19	348	0.0546	18	c.24 others(27): Show c.241_*242insTTTTGGTTTTTTTTTTTT		PCBP2	ENSG00000197111.16	transcript	ENST00000546463.6	protein_coding	15/15				242	INFO_REALIGN_3_PRIME	chr12	TogoVar
PCBP2_chr12_53447102_53486162	53479671	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp2 HG01358.hp1 HG03942.hp1 others(5): Show HG01175.hp2 HG01358.hp1 HG03942.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0030 a0001c0003t0006 a0001c0001t0006 a0001c0001t0030 a0001c0003t0006	a0001c0001t0006g0001 a0001c0001t0006g0087 a0001c0001t0006g0139 others(5): Show a0001c0001t0006g0001 a0001c0001t0006g0087 a0001c0001t0006g0139 a0001c0001t0006g0179 a0001c0001t0006g0182 a0001c0001t0006g0198 a0001c0001t0030g0018 a0001c0003t0006g0020	8	348	0.0230	18	c.24 others(27): Show c.241_*242insTTTGGTTTTTTTTTTTTT		PCBP2	ENSG00000197111.16	transcript	ENST00000546463.6	protein_coding	15/15				242	INFO_REALIGN_3_PRIME	chr12	TogoVar
PCBP3_chr21_45638725_45947450	45640610	G G	GGGTTGTA others(11): Show GGGTTGTAGGCTGAGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	292	0.0034	18	c.-35 others(29): Show c.-3537_-3536insGGTTGTAGGCTGAGGTAA		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding					3114		chr21	TogoVar
PCBP3_chr21_45638725_45947450	45646093	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02040.hp2 HG02717.hp2 others(2): Show HG01255.hp2 HG02040.hp2 HG02717.hp2 HG02970.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 others(2): Show a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255	5	292	0.0171	18	c.-27 others(37): Show c.-279+2240_-279+2241insCTTTCTCTCTCTCTCTCT		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45646097	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	292	0.0034	18	c.-27 others(37): Show c.-279+2240_-279+2241insCTCTCTTTCTCTCTCTCT		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45784335	G G	GCTCTAGC others(11): Show GCTCTAGCTCTACCTCTAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	292	0.0034	18	c.-12 others(39): Show c.-126+28888_-126+28889insGCTCTACCTCTACCTCTA		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45810218	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0269	1	292	0.0034	18	c.-12 others(39): Show c.-125-39732_-125-39715dupTGTGTGTGTGTGTGTGTG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45814699	A A	ATGAGTGG others(11): Show ATGAGTGGTGAGTGATGAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	292	0.0034	18	c.-12 others(39): Show c.-125-35248_-125-35231dupATGAGTGAGTGGTGAGTG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45943771	A A	AGGTAGAG others(11): Show AGGTAGAGGGAGCACTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG01123.hp1 others(87): Show HG00323.hp1 HG00735.hp2 HG01123.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01891.hp1 HG01928.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG04204.hp1 NA18522.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18951.hp2 NA18957.hp1 NA18963.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19079.hp1 NA19080.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0002t0009 a0001c0003t0014 a0001c0003t0020	a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0209 others(87): Show a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0209 a0001c0001t0002g0220 a0001c0001t0002g0231 a0001c0001t0002g0242 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0056 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0090 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0112 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0230 a0001c0001t0003g0263 a0001c0001t0004g0002 a0001c0001t0004g0004 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0009g0009 a0001c0001t0010g0195 a0001c0001t0010g0196 a0001c0001t0010g0197 a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0013g0182 a0001c0001t0015g0003 a0001c0001t0017g0097 a0001c0001t0019g0224 a0001c0001t0022g0216 a0001c0001t0023g0111 a0001c0002t0009g0215 a0001c0002t0009g0285 a0001c0003t0014g0290 a0001c0003t0014g0291 a0001c0003t0020g0222	90	292	0.3082	18	c.20 others(29): Show c.2065_*2066insGGTAGAGGGAGCACTCCG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding					1322		chr21	TogoVar
PCBP3_chr21_45638725_45947450	45943772	G G	GGTAGAGG others(11): Show GGTAGAGGGAGCACTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG00738.hp2 others(16): Show HG00544.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG01943.hp1 HG01943.hp2 HG02004.hp1 HG02602.hp2 HG02698.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0016 a0001c0001t0021 others(3): Show a0001c0001t0012 a0001c0001t0016 a0001c0001t0021 a0001c0002t0004 a0001c0002t0006 a0001c0002t0025	a0001c0001t0012g0045 a0001c0001t0012g0046 a0001c0001t0016g0027 others(16): Show a0001c0001t0012g0045 a0001c0001t0012g0046 a0001c0001t0016g0027 a0001c0001t0021g0085 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0006g0005 a0001c0002t0006g0006 a0001c0002t0006g0026 a0001c0002t0006g0033 a0001c0002t0006g0047 a0001c0002t0025g0031	19	292	0.0651	18	c.20 others(29): Show c.2066_*2067insGTAGAGGGAGCACTCCGT		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding					1323		chr21	TogoVar
PCCA_chr13_100084093_100535435	100125135	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03516.hp2 HG02486.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0115 a0001c0001t0001g0067 a0001c0001t0001g0115	2	174	0.0115	18	c.300 others(37): Show c.300+13084_300+13101dupGTGTGTGTGTGTGTGTGT		PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	4/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100169214	G G	GGCGGATC others(11): Show GGCGGATCACCTGAGGTCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG02258.hp2 others(15): Show HG00099.hp1 HG00621.hp1 HG02258.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 NA18959.hp2 NA18984.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0001g0091 others(15): Show a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0005g0030	18	174	0.1035	18	c.468 others(37): Show c.468+11877_468+11894dupGGATCACCTGAGGTCAGC		PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	6/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100232351	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	174	0.0058	18	c.601 others(35): Show c.601-3467_601-3450dupTGTGTGTGTGTGTGTGTG		PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	7/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100292934	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03654.hp1 HG02257.hp2 HG03654.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0002 a0001c0001t0001 a0003c0005t0002	a0001c0001t0001g0136 a0003c0005t0002g0018 a0001c0001t0001g0136 a0003c0005t0002g0018	2	174	0.0115	18	c.106 others(37): Show c.1066-8517_1066-8500dupGTGTGTGTGTGTGTGTGT		PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	12/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100341957	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG03453.hp1 HG02257.hp1 HG02486.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0052 a0001c0001t0001g0149 a0001c0001t0002g0076 a0001c0001t0001g0052 a0001c0001t0001g0149 a0001c0001t0002g0076	3	174	0.0172	18	c.164 others(37): Show c.1643+1706_1643+1723dupATATATATATATATATAT		PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100341973	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02148.hp2 homoSapiens_chm13v2.hp1 HG01109.hp2 HG02148.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0109 a0001c0001t0001g0165 a0001c0001t0001g0077 a0001c0001t0001g0109 a0001c0001t0001g0165	3	174	0.0172	18	c.164 others(37): Show c.1643+1723_1643+1724insATATATATGTATATATAT		PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100341979	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	174	0.0058	18	c.164 others(37): Show c.1643+1723_1643+1724insATATATATATATATGTAT		PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCB_chr3_136245340_136335169	136250376	A A	ATGGCGGC others(11): Show ATGGCGGCGGCATTACGGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19057.hp1 NA19057.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0083 a0003c0004t0001g0083	1	300	0.0033	18	c.11_ others(23): Show c.11_28dupCATTACGGGTGGCGGCGG	p.Ala others(9): Show p.Ala4_Ala9dup	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	1/15	65/1799	29/1620	10/539		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136257991	A A	ATGCATTT others(11): Show ATGCATTTACCAATTAAAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	300	0.0033	18	c.372 others(35): Show c.372+1370_372+1387dupGCATTTACCAATTAAATT		PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136264440	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02615.hp1 others(3): Show HG02109.hp1 HG02486.hp2 HG02615.hp1 HG02970.hp2 HG03453.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0169 others(3): Show a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0184	6	300	0.0200	18	c.543 others(35): Show c.543+2376_543+2377insGTATATATATATATATAT		PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136264448	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	300	0.0033	18	c.543 others(35): Show c.543+2384_543+2385insGTATATATATATATATAT		PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr3	TogoVar