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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PCNP_chr3_101569180_101599465	101586571	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	208	0.0048	32	c.354 others(49): Show c.354+1061_354+1062insTGTGTGTGTGTGTGTGTGTGTGTGAGAG AGAG	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCNP_chr3_101569180_101599465	101595787	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	41	0.0244	32	c.30 others(43): Show c.3034_*3035insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding		1323		chr3	TogoVar
PCNX1_chr14_70902459_71120382	70910049	T T	TCCTCCTC others(25): Show TCCTCCTCCTCCCCCCCTCCTCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	301	0.0033	32	c.153 others(49): Show c.153+2057_153+2058insCCCCCTCCTCCCCCTCCTCCCCCTCCTC CTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910063	C C	CTCCTCCC others(25): Show CTCCTCCCCCTCCTCCCCCCCTCCTCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0003 a0001c0001t0033g0003	1	350	0.0029	32	c.153 others(49): Show c.153+2060_153+2061insTCCTCCCCCTCCTCCCCCCCTCCTCTCC TCCT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35			chr14	TogoVar
PCNX1_chr14_70902459_71120382	70949083	C C	CATGTGTA others(25): Show CATGTGTATATATACATACATGTATATACGTAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03195.hp2 HG02886.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0040 a0001c0001t0039 a0001c0001t0040	a0001c0001t0039g0006 a0001c0001t0040g0005 a0001c0001t0039g0006 a0001c0001t0040g0005	2	350	0.0057	32	c.362 others(49): Show c.362+1973_362+2004dupACATACATGTATATACGTATATGTGTAT ATAT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70949111	C C	CGTATATG others(25): Show CGTATATGTGTATATATGTACATATACACATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG01243.hp2 HG02055.hp2	a0007 a0008 a0007 a0008	a0007c0018 a0008c0017 a0007c0018 a0008c0017	a0007c0018t0041 a0008c0017t0034 a0007c0018t0041 a0008c0017t0034	a0007c0018t0041g0043 a0008c0017t0034g0024 a0007c0018t0041g0043 a0008c0017t0034g0024	2	346	0.0058	32	c.362 others(49): Show c.362+2005_362+2036dupGTACATATACACATATGTATATGTGTAT ATAT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70949282	T T	TACACACA others(25): Show TACACACACACGTGTATGCACACACGTGTATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0120 a0001c0002t0007g0120	1	289	0.0035	32	c.362 others(49): Show c.362+2167_362+2168insACGTGTATGCACACACGTGTATACACAC ACAC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70949295	G G	GTACACAC others(25): Show GTACACACATATGTGTGTAGATACACACGTGTA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0313 a0001c0002t0012g0313	1	350	0.0029	32	c.362 others(49): Show c.362+2178_362+2209dupACATATGTGTGTAGATACACACGTGTAT ACAC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70994396	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19064.hp2 NA18945.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0059 a0001c0001t0001 a0001c0001t0059	a0001c0001t0001g0172 a0001c0001t0059g0181 a0001c0001t0001g0172 a0001c0001t0059g0181	2	68	0.0294	32	c.244 others(51): Show c.2445-1342_2445-1311dupATATATATATATATATATATATATAT ATATAT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	7/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	71119428	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02818.hp1 HG03130.hp2 others(5): Show HG02258.hp2 HG02818.hp1 HG03130.hp2 HG03942.hp1 NA18984.hp2 NA18992.hp2 NA19005.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 others(3): Show a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0019 a0001c0002t0021 a0001c0002t0067	a0001c0002t0003g0312 a0001c0002t0006g0286 a0001c0002t0007g0081 others(5): Show a0001c0002t0003g0312 a0001c0002t0006g0286 a0001c0002t0007g0081 a0001c0002t0007g0096 a0001c0002t0019g0264 a0001c0002t0021g0261 a0001c0002t0021g0262 a0001c0002t0067g0259	8	9	0.8889	32	c.94 others(43): Show c.9493_*9494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding		4047		chr14	TogoVar
PCNX2_chr1_232978435_233300725	233017164	A A	AAAAGCAA others(25): Show AAAAGCAAGATTTTGAGTCCTCACAGCTATTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00544.hp1 others(86): Show HG00099.hp1 HG00438.hp1 HG00544.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01952.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18946.hp1 NA18946.hp2 NA18960.hp1 NA18972.hp1 NA18972.hp2 NA18978.hp2 NA18982.hp2 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19010.hp2 NA19011.hp2 NA19060.hp1 NA19084.hp1 NA19084.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0013 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0024 a0025 a0026 a0027	a0001c0001 a0001c0004 a0001c0007 others(35): Show a0001c0001 a0001c0004 a0001c0007 a0001c0030 a0001c0031 a0002c0002 a0002c0011 a0002c0013 a0002c0021 a0003c0003 a0004c0005 a0004c0035 a0005c0006 a0005c0036 a0006c0014 a0006c0015 a0006c0041 a0006c0043 a0007c0010 a0007c0042 a0007c0044 a0008c0008 a0009c0012 a0009c0020 a0009c0022 a0011c0024 a0013c0017 a0016c0027 a0017c0040 a0018c0023 a0019c0019 a0020c0033 a0021c0028 a0022c0025 a0024c0026 a0025c0029 a0026c0034 a0027c0046	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(55): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0004t0001 a0001c0007t0001 a0001c0007t0003 a0001c0030t0002 a0001c0031t0006 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0013 a0002c0002t0023 a0002c0011t0012 a0002c0013t0005 a0002c0021t0001 a0003c0003t0002 a0003c0003t0007 a0003c0003t0008 a0004c0005t0001 a0004c0005t0002 a0004c0005t0006 a0004c0005t0013 a0004c0005t0021 a0004c0035t0001 a0005c0006t0002 a0005c0006t0007 a0005c0006t0015 a0005c0036t0003 a0006c0014t0002 a0006c0015t0002 a0006c0041t0002 a0006c0043t0002 a0007c0010t0001 a0007c0042t0001 a0007c0044t0001 a0008c0008t0002 a0008c0008t0008 a0008c0008t0014 a0008c0008t0018 a0009c0012t0002 a0009c0020t0016 a0009c0022t0002 a0011c0024t0003 a0013c0017t0002 a0016c0027t0001 a0017c0040t0001 a0018c0023t0009 a0019c0019t0001 a0020c0033t0009 a0021c0028t0020 a0022c0025t0001 a0024c0026t0002 a0025c0029t0002 a0026c0034t0002 a0027c0046t0019	a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0075 others(86): Show a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0004g0060 a0001c0001t0006g0120 a0001c0001t0010g0116 a0001c0001t0012g0061 a0001c0004t0001g0020 a0001c0004t0001g0023 a0001c0004t0001g0024 a0001c0004t0001g0043 a0001c0007t0001g0002 a0001c0007t0001g0054 a0001c0007t0001g0117 a0001c0007t0003g0114 a0001c0030t0002g0018 a0001c0031t0006g0079 a0002c0002t0001g0032 a0002c0002t0001g0057 a0002c0002t0001g0063 a0002c0002t0004g0028 a0002c0002t0004g0029 a0002c0002t0005g0009 a0002c0002t0013g0143 a0002c0002t0023g0142 a0002c0011t0012g0095 a0002c0013t0005g0053 a0002c0021t0001g0035 a0003c0003t0002g0008 a0003c0003t0002g0048 a0003c0003t0002g0055 a0003c0003t0002g0070 a0003c0003t0002g0110 a0003c0003t0002g0135 a0003c0003t0002g0136 a0003c0003t0007g0118 a0003c0003t0008g0134 a0004c0005t0001g0065 a0004c0005t0001g0107 a0004c0005t0002g0073 a0004c0005t0006g0108 a0004c0005t0013g0145 a0004c0005t0021g0039 a0004c0035t0001g0025 a0005c0006t0002g0109 a0005c0006t0002g0124 a0005c0006t0002g0126 a0005c0006t0007g0093 a0005c0006t0015g0058 a0005c0036t0003g0033 a0006c0014t0002g0012 a0006c0014t0002g0013 a0006c0015t0002g0014 a0006c0015t0002g0016 a0006c0041t0002g0046 a0006c0043t0002g0049 a0007c0010t0001g0011 a0007c0010t0001g0031 a0007c0042t0001g0051 a0007c0044t0001g0040 a0008c0008t0002g0071 a0008c0008t0002g0072 a0008c0008t0008g0027 a0008c0008t0014g0001 a0008c0008t0018g0137 a0009c0012t0002g0064 a0009c0012t0002g0119 a0009c0020t0016g0034 a0009c0022t0002g0121 a0011c0024t0003g0005 a0013c0017t0002g0038 a0016c0027t0001g0084 a0017c0040t0001g0125 a0018c0023t0009g0030 a0019c0019t0001g0045 a0020c0033t0009g0021 a0021c0028t0020g0077 a0022c0025t0001g0094 a0024c0026t0002g0131 a0025c0029t0002g0062 a0026c0034t0002g0069 a0027c0046t0019g0015	89	144	0.6181	32	c.460 others(47): Show c.4606-11_4606-10insAGAATAGCTGTGAGGACTCAAAATCTTGCT TT	PCNX2	ENSG00000135749.20	transcript	ENST00000258229.14	protein_coding	26/33			chr1	TogoVar
PCOLCE2_chr3_142812874_142894083	142893993	A A	ATTATTAT others(25): Show ATTATTATTATTATTATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0088 a0001c0001t0004g0088	1	201	0.0050	32	c.-50 others(43): Show c.-5098_-5097insAAAAAAAAAAAAAAAAATAATAATAATAATAA	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding		4911		chr3	TogoVar
PCOLCE2_chr3_142812874_142894083	142893993	A A	ATTATTAT others(25): Show ATTATTATTATTATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02129.hp1 HG02273.hp1 others(2): Show HG00544.hp2 HG02129.hp1 HG02273.hp1 HG02735.hp1 NA18950.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0002c0002t0004	a0001c0001t0001g0105 a0001c0001t0004g0071 a0001c0001t0006g0082 others(2): Show a0001c0001t0001g0105 a0001c0001t0004g0071 a0001c0001t0006g0082 a0002c0002t0004g0099 a0002c0002t0004g0100	5	205	0.0244	32	c.-50 others(43): Show c.-5098_-5097insAAAAAAAAAAAAAAAAAAAATAATAATAATAA	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding		4911		chr3	TogoVar
PCOLCE2_chr3_142812874_142894083	142893993	A A	ATTATTAT others(25): Show ATTATTATTATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG02074.hp2 HG02083.hp1 others(5): Show HG00423.hp2 HG02074.hp2 HG02083.hp1 HG03017.hp2 HG03942.hp1 NA18612.hp2 NA19064.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0108 a0001c0001t0002g0102 a0001c0001t0004g0075 others(5): Show a0001c0001t0001g0108 a0001c0001t0002g0102 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0079 a0001c0001t0004g0087 a0001c0001t0006g0067 a0001c0001t0006g0078	8	208	0.0385	32	c.-50 others(43): Show c.-5098_-5097insAAAAAAAAAAAAAAAAAAAAAAATAATAATAA	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding		4911		chr3	TogoVar
PCSK2_chr20_17222040_17489578	17333910	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02015.hp1 HG03654.hp1 others(4): Show HG01433.hp1 HG02015.hp1 HG03654.hp1 NA18947.hp2 NA19062.hp1 NA19084.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0028 a0001c0001t0039	a0001c0001t0002g0031 a0001c0001t0005g0099 a0001c0001t0005g0112 others(4): Show a0001c0001t0002g0031 a0001c0001t0005g0099 a0001c0001t0005g0112 a0001c0001t0005g0116 a0001c0001t0007g0104 a0001c0001t0028g0117 a0001c0001t0039g0229	7	50	0.1400	32	c.283 others(51): Show c.283-24391_283-24390insATATATATATATATATATATATATAT ATATAT	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK2_chr20_17222040_17489578	17391906	G G	GAGGAAGG others(25): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01255.hp1 HG02055.hp1 others(4): Show HG00099.hp2 HG01255.hp1 HG02055.hp1 HG02155.hp1 HG02155.hp2 NA18949.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0009t0020	a0001c0001t0001g0235 a0001c0001t0002g0183 a0001c0001t0004g0046 others(4): Show a0001c0001t0001g0235 a0001c0001t0002g0183 a0001c0001t0004g0046 a0001c0001t0004g0055 a0001c0001t0005g0108 a0001c0001t0006g0081 a0001c0009t0020g0189	7	40	0.1750	32	c.544 others(51): Show c.544-17345_544-17314dupAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGG	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK2_chr20_17222040_17489578	17449526	G G	GTATATAT others(25): Show GTATATATATATATATATGTATGTATGTATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0070 a0001c0001t0031g0070	1	90	0.0111	32	c.886 others(49): Show c.886-4203_886-4202insATATGTATGTATGTATATATATATATAT ATAT	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK4_chr19_1476428_1495350	1493708	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 NA18973.hp1 NA18975.hp2 HG03834.hp1 NA18973.hp1 NA18975.hp2	a0001 a0004 a0001 a0004	a0001c0011 a0004c0006 a0001c0011 a0004c0006	a0001c0011t0001 a0004c0006t0001 a0001c0011t0001 a0004c0006t0001	a0001c0011t0001g0028 a0004c0006t0001g0152 a0001c0011t0001g0028 a0004c0006t0001g0152	3	6	0.5000	32	c.-33 others(43): Show c.-3363_-3362insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PCSK4	ENSG00000115257.15	transcript	ENST00000300954.10	protein_coding		3359		chr19	TogoVar
PCSK5_chr9_75885673_76367975	76273564	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0060 a0007c0015t0001g0060	1	139	0.0072	32	c.314 others(53): Show c.3143-18658_3143-18657insTATATATATATATATATATATATA TATATATA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	24/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76351507	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	140	0.0071	32	c.506 others(49): Show c.5067+582_5067+583insGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	36/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101412712	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0013 a0013	a0013c0043 a0013c0043	a0013c0043t0009 a0013c0043t0009	a0013c0043t0009g0036 a0013c0043t0009g0036	1	263	0.0038	32	c.824 others(51): Show c.824-14137_824-14136insTTATATATATATATATATATATATAT ATATAT	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	6/21			chr15	TogoVar
PCSK7_chr11_117199337_117237073	117215364	T T	TTTTGTGT others(25): Show TTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03486.hp2 HG02965.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0164 a0001c0001t0007g0165 a0001c0001t0007g0164 a0001c0001t0007g0165	2	429	0.0047	32	c.153 others(51): Show c.1534+3101_1534+3102insCACACACACACACACACACACACACA CACAAA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02615.hp2 HG01106.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0414 a0001c0001t0002g0355 a0001c0001t0001g0414 a0001c0001t0002g0355	2	168	0.0119	32	c.153 others(51): Show c.1534+3085_1534+3086insTATATATATATATATATATATACACA CACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01978.hp1 HG02293.hp2 HG01496.hp1 HG01978.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0288 a0001c0001t0002g0303 a0001c0001t0016g0298 a0001c0001t0002g0288 a0001c0001t0002g0303 a0001c0001t0016g0298	3	169	0.0178	32	c.153 others(51): Show c.1534+3085_1534+3086insTATATATATATATATATACACACACA CACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03239.hp1 NA18612.hp2 others(1): Show HG02056.hp2 HG03239.hp1 NA18612.hp2 NA18972.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0014 a0001c0001 a0006c0014	a0001c0001t0002 a0006c0014t0002 a0001c0001t0002 a0006c0014t0002	a0001c0001t0002g0230 a0001c0001t0002g0280 a0001c0001t0002g0408 others(1): Show a0001c0001t0002g0230 a0001c0001t0002g0280 a0001c0001t0002g0408 a0006c0014t0002g0151	4	170	0.0235	32	c.153 others(51): Show c.1534+3085_1534+3086insTATATATATATATATACACACACACA CACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18974.hp2 NA18946.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0410 a0001c0001t0003g0396 a0001c0001t0002g0410 a0001c0001t0003g0396	2	168	0.0119	32	c.153 others(51): Show c.1534+3085_1534+3086insTATATATATATATACACACACACACA CACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18967.hp2 HG02129.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0407 a0001c0001t0002g0313 a0001c0001t0002g0407	2	168	0.0119	32	c.153 others(51): Show c.1534+3085_1534+3086insTATATATATATACACACACACACACA CACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp1 HG03579.hp1 HG02109.hp2 HG03098.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190	3	121	0.0248	32	c.117 others(49): Show c.117+9497_117+9498insATATATATATATATATATATATATTTTT TTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0074 a0001c0001t0032g0074	1	119	0.0084	32	c.117 others(49): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637509	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0112 a0001c0001t0009g0112	1	137	0.0073	32	c.117 others(49): Show c.117+9479_117+9480insTTATATATATATATATATATATATATAT ATAT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24648449	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0192 a0001c0002t0035g0192	1	57	0.0175	32	c.-13 others(43): Show c.-1345_-1344insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding		1103		chrX	TogoVar
PDE10A_chr6_165322289_165668241	165334265	A A	ACCTCCAT others(25): Show ACCTCCATAGCGCCCTACAGCGCCGGGCACGCG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03516.hp1 NA18906.hp2 HG02886.hp2 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0149 a0001c0002t0003g0097 a0001c0002t0003g0125 a0001c0001t0003g0149 a0001c0002t0003g0097 a0001c0002t0003g0125	3	220	0.0136	32	c.306 others(51): Show c.3066-1170_3066-1139dupCGCGTGCCCGGCGCTGTAGGGCGCTA TGGAGG	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	21/21			chr6	TogoVar
PDE11A_chr2_177618244_178077777	177881345	A A	ATCTATCT others(25): Show ATCTATCTATCTATCTTATCTATCATCTATCTG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0059 a0001c0003t0059	a0001c0003t0059g0023 a0001c0003t0059g0023	1	168	0.0060	32	c.130 others(51): Show c.1303-5423_1303-5422insCAGATAGATGATAGATAAGATAGATA GATAGA	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	4/19			chr2	TogoVar
PDE12_chr3_57551274_57571848	57568635	G G	GAGTGCAG others(25): Show GAGTGCAGTGGCATGATCACCTTGCTCACTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	386	0.0026	32	c.86 others(43): Show c.8631_*8632insAGTGCAGTGGCATGATCACCTTGCTCACTGCA	PDE12	ENSG00000174840.9	transcript	ENST00000311180.9	protein_coding		1788		chr3	TogoVar
PDE1A_chr2_182135041_182432036	182242926	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0258 a0001c0001t0003g0258	1	191	0.0052	32	c.168 others(49): Show c.168-2635_168-2634insACACACACACACACACACGAGAGAGAGA GAGA	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	2/14			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182264878	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp2 HG01975.hp1 others(4): Show HG00738.hp2 HG01081.hp2 HG01975.hp1 HG02615.hp1 NA18906.hp2 NA19011.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019	a0001c0001t0001g0178 a0001c0001t0002g0257 a0001c0001t0011g0247 others(4): Show a0001c0001t0001g0178 a0001c0001t0002g0257 a0001c0001t0011g0247 a0001c0001t0016g0171 a0001c0001t0017g0161 a0001c0001t0017g0183 a0001c0001t0019g0125	7	71	0.0986	32	c.54- others(45): Show c.54-465_54-464insATATATATATATATATATATATATATATATAT	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182264889	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	257	0.0039	32	c.54- others(45): Show c.54-476_54-475insCATATATATATATATATATATATATATATATA	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE1C_chr7_31746179_32075407	31794077	C C	CAGATAGA others(25): Show CAGATAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0010 a0001c0006t0003g0010	1	211	0.0047	32	c.189 others(53): Show c.1891+14953_1891+14954insATCTATCTATCTATCTATCTATCT ATCTATCT	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	16/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31794081	C C	CAGATAGA others(25): Show CAGATAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	202	0.0050	32	c.189 others(53): Show c.1891+14949_1891+14950insATCTATCTATCTATCTATCTATCT ATCTATCT	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	16/17			chr7	TogoVar
PDE3A_chr12_20363537_20693583	20386037	A A	ATAAAATA others(25): Show ATAAAATATATATAAAATATATGTAAATATATG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0110 a0002c0002t0110	a0002c0002t0110g0091 a0002c0002t0110g0091	1	196	0.0051	32	c.960 others(51): Show c.960+15808_960+15809insATATATGTAAATATATGTAAAATATA TATAAA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3B_chr11_14638804_14877044	14749899	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01496.hp1 HG02015.hp1 others(20): Show HG01358.hp2 HG01496.hp1 HG02015.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03098.hp1 HG03195.hp2 HG03688.hp1 NA18906.hp1 NA18964.hp2 NA18982.hp2 NA18984.hp1 NA18989.hp2 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19070.hp1 NA19072.hp2 NA19084.hp1 NA19088.hp1 NA20805.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0008 a0001c0013 others(1): Show a0001c0001 a0001c0008 a0001c0013 a0008c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0008t0002 a0001c0013t0001 a0008c0014t0001	a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0039 others(20): Show a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0131 a0001c0001t0001g0173 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0305 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0004g0176 a0001c0008t0002g0230 a0001c0013t0001g0032 a0008c0014t0001g0109	23	105	0.2190	32	c.979 others(51): Show c.979-22024_979-22023insATATATATATATATATATATATATAT ATATAT	PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDE3B_chr11_14638804_14877044	14749910	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	317	0.0032	32	c.979 others(51): Show c.979-22024_979-22023insATATATATATATATATATATATATAT ATGTAT	PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDE4B_chr1_65787895_66379574	66371279	G G	GACATTAT others(25): Show GACATTATATAGGTGTCCTTTGACCTATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03540.hp2 HG03041.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0059 a0001c0001t0005g0032 a0001c0001t0005g0059	2	118	0.0169	32	c.184 others(51): Show c.1846-1034_1846-1033insACATTATATAGGTGTCCTTTGACCTA TATATA	PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	16/16			chr1	TogoVar
PDE4D_chr5_58964038_59898726	59181543	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	6	0.1667	32	c.759 others(47): Show c.759-900_759-899insATATATATATATATATATATATATATATAT AT	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	4/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59762263	T T	TATATGGG others(25): Show TATATGGGTACACATATGCGTATATGGGTACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0028 a0001c0002t0014g0028	1	64	0.0156	32	c.455 others(53): Show c.455+130904_455+130905insGTGTACCCATATACGCATATGTGT ACCCATAT	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14			chr5	TogoVar
PDE5A_chr4_119489403_119633804	119632087	G G	GATAGATA others(25): Show GATAGATAGATATAGATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0007 a0004c0007t0007	a0004c0007t0007g0039 a0004c0007t0007g0039	1	23	0.0435	32	c.-34 others(43): Show c.-3417_-3416insATATATATATATATATATCTATATCTATCTAT	PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding		3284		chr4	TogoVar
PDE5A_chr4_119489403_119633804	119632087	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01106.hp2 HG01256.hp2 others(17): Show HG00099.hp1 HG01106.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01884.hp2 HG02027.hp2 HG02145.hp1 HG02895.hp1 HG02897.hp1 HG03669.hp2 HG04115.hp2 HG04228.hp2 NA18947.hp2 NA19062.hp2 NA19064.hp1 NA19081.hp2 NA19088.hp1 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0001 a0002c0003 a0003c0004 others(2): Show a0001c0001 a0002c0003 a0003c0004 a0006c0008 a0009c0012	a0001c0001t0001 a0001c0001t0006 a0001c0001t0021 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0021 a0002c0003t0003 a0002c0003t0010 a0003c0004t0008 a0006c0008t0022 a0009c0012t0001	a0001c0001t0001g0180 a0001c0001t0001g0207 a0001c0001t0001g0208 others(17): Show a0001c0001t0001g0180 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0297 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0006g0305 a0001c0001t0021g0300 a0002c0003t0003g0269 a0002c0003t0003g0270 a0002c0003t0003g0294 a0002c0003t0010g0288 a0003c0004t0008g0157 a0003c0004t0008g0159 a0003c0004t0008g0160 a0006c0008t0022g0330 a0009c0012t0001g0282	20	42	0.4762	32	c.-34 others(43): Show c.-3417_-3416insATATATATATATATATATATATATATATATAT	PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding		3284		chr4	TogoVar
PDE6A_chr5_149852953_149949793	149900375	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01106.hp2 HG01934.hp2 others(1): Show HG00621.hp1 HG01106.hp2 HG01934.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0031 a0001c0001 a0001c0031	a0001c0001t0001 a0001c0001t0002 a0001c0031t0007 a0001c0001t0001 a0001c0001t0002 a0001c0031t0007	a0001c0001t0001g0018 a0001c0001t0002g0033 a0001c0001t0002g0073 others(1): Show a0001c0001t0001g0018 a0001c0001t0002g0033 a0001c0001t0002g0073 a0001c0031t0007g0233	4	11	0.3636	32	c.111 others(49): Show c.1114-852_1114-851insTATATATATATATATATATATATATATA TATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	8/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(25): Show ATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp2 HG01884.hp1 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0042 a0002c0003t0004 a0002c0003t0042	a0002c0003t0004g0217 a0002c0003t0042g0220 a0002c0003t0004g0217 a0002c0003t0042g0220	2	70	0.0286	32	c.858 others(49): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAATATATATATATA TATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(25): Show ATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0224 a0002c0003t0003g0224	1	69	0.0145	32	c.858 others(49): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAAAATATATATATA TATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar

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