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
PRKCB_chr16_23830983_24225611	24096664	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0008 a0001c0018t0008	a0001c0018t0008g0048 a0001c0018t0008g0048	1	148	0.0068	20	c.821 others(37): Show c.821+2368_821+2369insTATATATATATATATATATA	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24128051	G G	GAAAACAA others(13): Show GAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02559.hp2 others(6): Show HG02258.hp1 HG02486.hp1 HG02559.hp2 HG02809.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp1 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0013	a0001c0002t0012 a0001c0002t0070 a0001c0003t0047 others(2): Show a0001c0002t0012 a0001c0002t0070 a0001c0003t0047 a0001c0004t0009 a0001c0013t0048	a0001c0002t0012g0098 a0001c0002t0012g0145 a0001c0002t0012g0148 others(6): Show a0001c0002t0012g0098 a0001c0002t0012g0145 a0001c0002t0012g0148 a0001c0002t0070g0045 a0001c0003t0047g0055 a0001c0004t0009g0011 a0001c0004t0009g0026 a0001c0004t0009g0092 a0001c0013t0048g0047	9	148	0.0608	20	c.106 others(39): Show c.1065+4077_1065+4096dupAAACAAAACAAAACAAAACA	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24182872	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0020 a0001c0002t0013g0020	1	148	0.0068	20	c.153 others(39): Show c.1533+1944_1533+1945insGTGTGTGTGTGTGTGTGTGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	13/16			chr16	TogoVar
PRKCB_chr16_23830983_24225611	24182873	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02615.hp2 HG02723.hp2 others(5): Show HG01496.hp1 HG02615.hp2 HG02723.hp2 HG02895.hp2 HG03098.hp1 NA18983.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0002c0017	a0001c0001t0017 a0001c0001t0028 a0001c0001t0056 others(5): Show a0001c0001t0017 a0001c0001t0028 a0001c0001t0056 a0001c0002t0018 a0001c0003t0008 a0001c0006t0006 a0001c0009t0073 a0002c0017t0027	a0001c0001t0017g0082 a0001c0001t0028g0051 a0001c0001t0056g0109 others(5): Show a0001c0001t0017g0082 a0001c0001t0028g0051 a0001c0001t0056g0109 a0001c0002t0018g0088 a0001c0003t0008g0140 a0001c0006t0006g0043 a0001c0009t0073g0031 a0002c0017t0027g0077	8	148	0.0541	20	c.153 others(39): Show c.1533+1955_1533+1974dupGTGTGTGTGTGTGTGTGTGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24219245	C C	CTTTTGTT others(13): Show CTTTTGTTTTGTTTTGTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG02015.hp1 HG02055.hp2 others(16): Show HG00423.hp1 HG02015.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02486.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02922.hp2 HG03041.hp1 HG03209.hp2 HG03471.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0012 a0001c0013	a0001c0001t0019 a0001c0001t0041 a0001c0001t0079 others(12): Show a0001c0001t0019 a0001c0001t0041 a0001c0001t0079 a0001c0002t0083 a0001c0003t0024 a0001c0003t0047 a0001c0004t0009 a0001c0004t0086 a0001c0005t0078 a0001c0006t0039 a0001c0007t0054 a0001c0008t0016 a0001c0008t0037 a0001c0012t0024 a0001c0013t0048	a0001c0001t0019g0102 a0001c0001t0019g0146 a0001c0001t0041g0097 others(16): Show a0001c0001t0019g0102 a0001c0001t0019g0146 a0001c0001t0041g0097 a0001c0001t0079g0142 a0001c0002t0083g0068 a0001c0003t0024g0057 a0001c0003t0047g0055 a0001c0004t0009g0011 a0001c0004t0009g0026 a0001c0004t0009g0092 a0001c0004t0086g0024 a0001c0005t0078g0014 a0001c0006t0039g0025 a0001c0007t0054g0095 a0001c0008t0016g0124 a0001c0008t0016g0125 a0001c0008t0037g0123 a0001c0012t0024g0022 a0001c0013t0048g0047	19	148	0.1284	20	c.44 others(31): Show c.4439_*4458dupGTTTTGTTTTGTTTTGTTTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	17/17	4459	INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCD_chr3_53156209_53197717	53156624	A A	AGGCGGGG others(13): Show AGGCGGGGCGGGGCGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG02630.hp2 HG03098.hp1 others(1): Show HG01993.hp2 HG02630.hp2 HG03098.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0013 a0001c0002 a0001c0004 a0001c0013	a0001c0002t0002 a0001c0004t0003 a0001c0013t0003 a0001c0002t0002 a0001c0004t0003 a0001c0013t0003	a0001c0002t0002g0254 a0001c0004t0003g0190 a0001c0013t0003g0011 others(1): Show a0001c0002t0002g0254 a0001c0004t0003g0190 a0001c0013t0003g0011 a0001c0013t0003g0188	4	322	0.0124	20	c.-49 others(31): Show c.-4936_-4935insGGCGGGGCGGGGCGGGGCGG	PRKCD	ENSG00000163932.16	transcript	ENST00000330452.8	protein_coding		4584		chr3	TogoVar
PRKCE_chr2_45646675_46192990	45744500	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0077 a0002c0004t0004g0077	1	168	0.0060	20	c.348 others(39): Show c.348+92060_348+92079dupCTTTCTTTCTTTCTTTCTTT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	45751809	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0022 a0001c0001t0007g0022	1	168	0.0060	20	c.349 others(39): Show c.349-91184_349-91165dupTTTTTTTTTTTTTTTTTTTT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	45941065	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	168	0.0060	20	c.413 others(39): Show c.413-35361_413-35342dupAAAAAAAAAAAAAAAAAAAA	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	45958791	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0107 a0001c0002t0005g0107	1	168	0.0060	20	c.413 others(39): Show c.413-17631_413-17612dupATATATATATATATATATAT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	45958816	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0041 a0001c0002t0003g0041	1	168	0.0060	20	c.413 others(39): Show c.413-17612_413-17611insATATATATATATATATATTT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	46123214	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01496.hp2 HG02976.hp2 others(2): Show HG01070.hp1 HG01496.hp2 HG02976.hp2 HG04199.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0090 a0001c0001t0002g0126 a0001c0001t0002g0154 others(2): Show a0001c0001t0001g0090 a0001c0001t0002g0126 a0001c0001t0002g0154 a0001c0001t0003g0051 a0001c0001t0005g0122	5	168	0.0298	20	c.159 others(41): Show c.1593-21869_1593-21850dupTTTTTTTTTTTTTTTTTTTT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCH_chr14_61316579_61555976	61352689	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA20129.hp2 HG03195.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0110 a0001c0001t0001g0064 a0001c0001t0001g0110	2	208	0.0096	20	c.363 others(39): Show c.363+30260_363+30279dupAAGAAAGAAAGAAAGAAAGA	PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCH_chr14_61316579_61555976	61428112	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0008 a0001c0008t0001g0008	1	208	0.0048	20	c.428 others(39): Show c.428-14998_428-14979dupATATATATATATATATATAT	PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCH_chr14_61316579_61555976	61528151	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18983.hp2 NA19004.hp2 HG02027.hp2 NA18983.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0132	3	208	0.0144	20	c.143 others(37): Show c.1434-912_1434-893dupCACACACACACACACACACA	PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCH_chr14_61316579_61555976	61528973	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01358.hp2 HG01243.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0018 a0001c0003t0002g0031 a0001c0002t0002g0018 a0001c0003t0002g0031	2	208	0.0096	20	c.143 others(35): Show c.1434-88_1434-69dupTGTGTGTGTGTGTGTGTGTG	PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCH_chr14_61316579_61555976	61529005	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp1 HG02145.hp2 others(5): Show HG01109.hp2 HG01255.hp1 HG02145.hp2 HG02257.hp1 HG02572.hp2 HG03098.hp1 HG03540.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0007 others(1): Show a0001c0002 a0001c0003 a0001c0007 a0001c0011	a0001c0002t0002 a0001c0003t0002 a0001c0003t0003 others(5): Show a0001c0002t0002 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0006 a0001c0007t0003 a0001c0007t0006 a0001c0011t0007	a0001c0002t0002g0177 a0001c0003t0002g0025 a0001c0003t0003g0202 others(5): Show a0001c0002t0002g0177 a0001c0003t0002g0025 a0001c0003t0003g0202 a0001c0003t0005g0194 a0001c0003t0006g0168 a0001c0007t0003g0198 a0001c0007t0006g0167 a0001c0011t0007g0164	8	208	0.0385	20	c.143 others(35): Show c.1434-69_1434-68insTGTGTGTGTGTGTGTGTGCG	PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCI_chr3_170217424_170310977	170245949	G G	GTTTTTTT others(13): Show GTTTTTTTTGTTTGTTTGTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0290 a0001c0001t0003g0290	1	342	0.0029	20	c.223 others(39): Show c.223+10606_223+10607insGTTTGTTTGTTTTTTTTTTT	PRKCI	ENSG00000163558.13	transcript	ENST00000295797.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PRKCI_chr3_170217424_170310977	170245950	T T	TTTTTTTT others(13): Show TTTTTTTTGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG01071.hp2 others(22): Show HG00733.hp1 HG00735.hp1 HG01071.hp2 HG01081.hp1 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01993.hp1 HG02027.hp1 HG02074.hp1 HG02630.hp2 HG02723.hp1 HG03209.hp2 HG03225.hp2 HG03654.hp1 HG03710.hp2 HG03834.hp2 NA18979.hp1 NA18982.hp2 NA19011.hp2 NA19057.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 a0001c0001t0036	a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0279 others(21): Show a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0279 a0001c0001t0003g0007 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0274 a0001c0001t0003g0276 a0001c0001t0003g0278 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0294 a0001c0001t0003g0296 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0024g0283 a0001c0001t0036g0140	25	342	0.0731	20	c.223 others(39): Show c.223+10606_223+10607insGTTTGTTTGTTTGTTTTTTT	PRKCI	ENSG00000163558.13	transcript	ENST00000295797.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PRKCI_chr3_170217424_170310977	170245950	T T	TTTTTTTT others(13): Show TTTTTTTTTTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01255.hp2 HG01884.hp2 others(21): Show HG00438.hp2 HG01255.hp2 HG01884.hp2 HG02040.hp1 HG02080.hp1 HG02109.hp2 HG02145.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03139.hp1 NA18522.hp2 NA18947.hp2 NA18957.hp2 NA18984.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA19010.hp1 NA19056.hp2 NA19074.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010	a0001c0001t0002g0141 a0001c0001t0002g0157 a0001c0001t0002g0158 others(17): Show a0001c0001t0002g0141 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0221 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0006g0130 a0001c0001t0007g0001 a0001c0001t0007g0065 a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0010g0004 a0001c0001t0010g0154	24	342	0.0702	20	c.223 others(39): Show c.223+10610_223+10611insGTTTGTTTGTTTTTTTTTTT	PRKCI	ENSG00000163558.13	transcript	ENST00000295797.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PRKD1_chr14_29571479_29932847	29622367	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03209.hp2 HG01243.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0006 a0001c0001t0001 a0001c0003t0006	a0001c0001t0001g0096 a0001c0003t0006g0002 a0001c0001t0001g0096 a0001c0003t0006g0002	2	156	0.0128	20	c.190 others(39): Show c.1905+1765_1905+1784dupAAGGAAGGAAGGAAGGAAGG	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	13/17			chr14	TogoVar
PRKD1_chr14_29571479_29932847	29646533	T T	TTAGATAG others(13): Show TTAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0138 a0001c0003t0003g0138	1	156	0.0064	20	c.697 others(37): Show c.697-7649_697-7630dupTCTATCTATCTATCTATCTA	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	4/17			chr14	TogoVar
PRKD1_chr14_29571479_29932847	29663148	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	156	0.0064	20	c.696 others(35): Show c.696+531_696+550dupATATATATATATATATATAT	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	4/17			chr14	TogoVar
PRKD1_chr14_29571479_29932847	29676177	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	156	0.0064	20	c.404 others(37): Show c.404-9970_404-9969insAAAAAAAAAAAAAAAAAAAA	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	2/17			chr14	TogoVar
PRKD1_chr14_29571479_29932847	29700986	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19240.hp2 HG02965.hp2 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0012 a0001c0003 a0006c0012	a0001c0003t0001 a0006c0012t0001 a0001c0003t0001 a0006c0012t0001	a0001c0003t0001g0073 a0006c0012t0001g0106 a0001c0003t0001g0073 a0006c0012t0001g0106	2	156	0.0128	20	c.403 others(39): Show c.403+24549_403+24550insTGTGTGTGTGTGTGTGTGTG	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	2/17			chr14	TogoVar
PRKD1_chr14_29571479_29932847	29750614	G G	GCACGCGC others(13): Show GCACGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	156	0.0064	20	c.265 others(39): Show c.265-24941_265-24940insTGTGTGTGTGTGTGCGCGTG	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
PRKD1_chr14_29571479_29932847	29763349	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp2 HG02717.hp1 HG01884.hp1 HG02647.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0007g0010 a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0007g0010	3	156	0.0192	20	c.265 others(39): Show c.265-37695_265-37676dupCTCCTTCCTTCCTTCCTTCC	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
PRKD1_chr14_29571479_29932847	29826822	T T	TATATACA others(13): Show TATATACACACATATATATAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0092 a0001c0015t0001g0092	1	156	0.0064	20	c.264 others(41): Show c.264+100426_264+100427insGTATATATATGTGTGTATAT	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
PRKD2_chr19_46669316_46722114	46680924	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp2 HG00642.hp2 HG01109.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0002g0340 a0003c0003t0001g0055 a0001c0001t0002g0340 a0003c0003t0001g0055	2	378	0.0053	20	c.207 others(37): Show c.2070+706_2070+725dupTATATATATATATATATATA	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17			chr19	TogoVar
PRKD2_chr19_46669316_46722114	46680946	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	378	0.0027	20	c.207 others(37): Show c.2070+703_2070+704insAATATATATATATATATATA	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17			chr19	TogoVar
PRKD2_chr19_46669316_46722114	46680946	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02055.hp2 HG02155.hp2 others(2): Show HG00544.hp2 HG02055.hp2 HG02155.hp2 HG02257.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0090 a0001c0001t0001g0109 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0090 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0129	5	378	0.0132	20	c.207 others(37): Show c.2070+703_2070+704insAAAATATATATATATATATA	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17			chr19	TogoVar
PRKD2_chr19_46669316_46722114	46680946	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp1 HG02970.hp1 HG01891.hp1 HG02723.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0323 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0323	3	378	0.0079	20	c.207 others(37): Show c.2070+703_2070+704insAAAAAATATATATATATATA	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17			chr19	TogoVar
PRKD2_chr19_46669316_46722114	46680946	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	378	0.0027	20	c.207 others(37): Show c.2070+703_2070+704insAAAAAAAAAATATATATATA	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17			chr19	TogoVar
PRKD2_chr19_46669316_46722114	46703958	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp1 HG02572.hp1 HG00738.hp2 HG01070.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0066 a0001c0001t0001g0097 a0001c0001t0002g0351 a0001c0001t0001g0066 a0001c0001t0001g0097 a0001c0001t0002g0351	3	378	0.0079	20	c.889 others(35): Show c.889+191_889+210dupGTGTGTGTGTGTGTGTGTGT	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	5/17			chr19	TogoVar
PRKD3_chr2_37245502_37329833	37249558	G G	GACACACA others(13): Show GACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0176 a0001c0004t0011g0176	1	388	0.0026	20	c.35 others(31): Show c.3599_*3618dupGTGTGTGTGTGTGTGTGTGT	PRKD3	ENSG00000115825.11	transcript	ENST00000234179.8	protein_coding		943		chr2	TogoVar
PRKD3_chr2_37245502_37329833	37249643	G G	GACACACA others(13): Show GACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01257.hp1 HG02056.hp1 others(16): Show HG01192.hp1 HG01257.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp2 HG03710.hp1 HG04199.hp1 NA18948.hp1 NA18961.hp1 NA18975.hp2 NA18977.hp1 NA18986.hp1 NA18994.hp1 NA19002.hp2 NA19007.hp1 NA19011.hp1 NA19066.hp2 NA19085.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0041 a0001c0004t0004 a0001c0002t0001 a0001c0002t0041 a0001c0004t0004	a0001c0002t0001g0133 a0001c0002t0001g0148 a0001c0002t0001g0154 others(16): Show a0001c0002t0001g0133 a0001c0002t0001g0148 a0001c0002t0001g0154 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0313 a0001c0002t0001g0318 a0001c0002t0001g0321 a0001c0002t0001g0323 a0001c0002t0001g0329 a0001c0002t0001g0334 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0344 a0001c0002t0001g0347 a0001c0002t0001g0348 a0001c0002t0041g0158 a0001c0004t0004g0196 a0001c0004t0004g0203	19	388	0.0490	20	c.35 others(31): Show c.3514_*3533dupGTGTGTGTGTGTGTGTGTGT	PRKD3	ENSG00000115825.11	transcript	ENST00000234179.8	protein_coding		858		chr2	TogoVar
PRKD3_chr2_37245502_37329833	37249643	G G	GACAGACA others(13): Show GACAGACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0169 a0001c0003t0006g0169	1	388	0.0026	20	c.35 others(31): Show c.3533_*3534insGTGTGTGTGTGTGTGTCTGT	PRKD3	ENSG00000115825.11	transcript	ENST00000234179.8	protein_coding		858		chr2	TogoVar
PRKG1_chr10_51069487_52303350	51115372	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp1 HG03453.hp2 others(1): Show HG02965.hp1 HG03453.hp1 HG03453.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0002t0001	a0001c0001t0005g0064 a0001c0001t0006g0011 a0001c0001t0015g0010 others(1): Show a0001c0001t0005g0064 a0001c0001t0006g0011 a0001c0001t0015g0010 a0001c0002t0001g0052	4	64	0.0625	20	c.312 others(39): Show c.312-37779_312-37778insTATATATATATATATATATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51126420	T T	TATATTCA others(13): Show TATATTCATATATTTATATAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0045 a0001c0001t0012g0045	1	64	0.0156	20	c.312 others(39): Show c.312-26724_312-26705dupAATATTCATATATTTATATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51156297	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02818.hp2 HG02922.hp1 others(5): Show HG02622.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG03195.hp2 HG03579.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0002t0004 a0001c0006t0007	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0002g0005 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0002g0005 a0001c0001t0004g0028 a0001c0001t0005g0064 a0001c0001t0014g0032 a0001c0002t0004g0021 a0001c0006t0007g0050	8	64	0.1250	20	c.478 others(37): Show c.478+2983_478+2984insCACACACACACACACACACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51205127	C C	CTTTCTTT others(13): Show CTTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	64	0.0156	20	c.478 others(39): Show c.478+51800_478+51801insCTTTTTTTTTTTTTTTTTTT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51316685	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp2 HG01099.hp1 HG01192.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0002c0004t0004 a0001c0001t0005 a0002c0004t0004	a0001c0001t0005g0061 a0002c0004t0004g0053 a0001c0001t0005g0061 a0002c0004t0004g0053	2	64	0.0313	20	c.479 others(41): Show c.479-151030_479-151011dupTAAATAAATAAATAAATAAA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51570049	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	64	0.0156	20	c.592 others(41): Show c.592+102232_592+102233insATATATATATATATATATAT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51704250	C C	CAGATAGA others(13): Show CAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp2 HG02258.hp2 others(4): Show HG00735.hp1 HG01243.hp2 HG02258.hp2 HG02559.hp2 HG02622.hp1 HG02922.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0003 a0001c0002t0006 a0001c0003t0011	a0001c0001t0001g0008 a0001c0001t0003g0060 a0001c0001t0005g0022 others(4): Show a0001c0001t0001g0008 a0001c0001t0003g0060 a0001c0001t0005g0022 a0001c0002t0003g0030 a0001c0002t0003g0034 a0001c0002t0006g0024 a0001c0003t0011g0016	7	64	0.1094	20	c.593 others(41): Show c.593-100329_593-100310dupGATAGATAGATAGATAGATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51852213	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	64	0.0156	20	c.698 others(39): Show c.698+47539_698+47540insTATATATATATATATATATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51899671	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG02109.hp2 others(1): Show HG00735.hp1 HG00735.hp2 HG02109.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0011 a0001c0001t0001 a0001c0001t0003 a0001c0003t0011	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0003g0060 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0003g0060 a0001c0003t0011g0016	4	64	0.0625	20	c.699 others(37): Show c.699-7831_699-7812dupTATATATATATATATATATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52114557	A A	ACTATATA others(13): Show ACTATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18522.hp1 HG02896.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0029 a0001c0001t0005g0031 a0001c0001t0003g0029 a0001c0001t0005g0031	2	64	0.0313	20	c.936 others(39): Show c.936-19283_936-19282insCTATATATATATACATATAT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	7/17			chr10	TogoVar
PRKG1_chr10_51069487_52303350	52224808	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0039 a0001c0001t0009g0039	1	64	0.0156	20	c.107 others(41): Show c.1077-26750_1077-26731dupTATATATATATATATATATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52249011	T T	TCCTTCCC others(13): Show TCCTTCCCTCCCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02896.hp2 HG02109.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0029 a0001c0001t0008g0004 a0001c0001t0003g0029 a0001c0001t0008g0004	2	64	0.0313	20	c.107 others(39): Show c.1077-2509_1077-2490dupCCCTTCCCTCCCCTTCCCTC	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG2_chr4_81082375_81220222	81092465	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 NA19043.hp2 others(1): Show HG01243.hp2 HG02559.hp1 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0072 a0001c0001t0002g0219 a0001c0001t0010g0217 others(1): Show a0001c0001t0002g0072 a0001c0001t0002g0219 a0001c0001t0010g0217 a0001c0001t0010g0218	4	250	0.0160	20	c.212 others(35): Show c.2127-33_2127-14dupCCTTCCTTCCTTCCTTCCTT	PRKG2	ENSG00000138669.10	transcript	ENST00000264399.6	protein_coding	17/18			chr4	TogoVar

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