Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PRKD1_chr14_29571479_29932847	29700986	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02818.hp2 HG03209.hp2 others(1): Show HG02559.hp2 HG02818.hp2 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0012	a0001c0003t0001g0070 a0001c0003t0002g0075 a0001c0003t0006g0002 others(1): Show a0001c0003t0001g0070 a0001c0003t0002g0075 a0001c0003t0006g0002 a0001c0003t0012g0137	4	156	0.0256	18	c.403 others(37): Show c.403+24549_403+24550insTGTGTGTGTGTGTGTGTG	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	2/17			chr14	TogoVar
PRKD1_chr14_29571479_29932847	29826700	C C	CACATATA others(11): Show CACATATATATATACACAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	156	0.0064	18	c.264 others(39): Show c.264+100548_264+100549insATGTGTATATATATATGT	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
PRKD1_chr14_29571479_29932847	29885804	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18968.hp1 NA18946.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0097 a0001c0002t0002g0099 a0001c0002t0002g0097 a0001c0002t0002g0099	2	156	0.0128	18	c.264 others(37): Show c.264+41427_264+41444dupTTTTTTTTTTTTTTTTTT	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
PRKD2_chr19_46669316_46722114	46680924	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02572.hp2 HG02717.hp1 others(5): Show HG00735.hp1 HG02572.hp2 HG02717.hp1 HG02735.hp2 HG02976.hp2 HG03540.hp2 NA18943.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0061 others(5): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0125	8	378	0.0212	18	c.207 others(35): Show c.2070+708_2070+725dupTATATATATATATATATA	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17			chr19	TogoVar
PRKD2_chr19_46669316_46722114	46680946	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01168.hp2 HG01169.hp2 others(1): Show HG01070.hp1 HG01168.hp2 HG01169.hp2 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0115 a0001c0001t0001g0130 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0115 a0001c0001t0001g0130 a0001c0001t0001g0149	4	378	0.0106	18	c.207 others(35): Show c.2070+703_2070+704insAATATATATATATATATA	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17			chr19	TogoVar
PRKD2_chr19_46669316_46722114	46680946	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01258.hp2 HG01346.hp1 others(4): Show HG01081.hp1 HG01258.hp2 HG01346.hp1 HG03654.hp2 HG04115.hp2 HG06807.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0068 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0068 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0157 a0001c0001t0001g0158	7	378	0.0185	18	c.207 others(35): Show c.2070+703_2070+704insAAAATATATATATATATA	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17			chr19	TogoVar
PRKD2_chr19_46669316_46722114	46680946	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1 NA19064.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0116 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0116	3	378	0.0079	18	c.207 others(35): Show c.2070+703_2070+704insAAAAAATATATATATATA	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17			chr19	TogoVar
PRKD2_chr19_46669316_46722114	46680946	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02896.hp1 HG01496.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0134 a0001c0001t0001g0065 a0001c0001t0001g0134	2	378	0.0053	18	c.207 others(35): Show c.2070+703_2070+704insAAAAAAAATATATATATA	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17			chr19	TogoVar
PRKD2_chr19_46669316_46722114	46680946	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0070 a0001c0001t0001g0071	2	378	0.0053	18	c.207 others(35): Show c.2070+703_2070+704insAAAAAAAAAATATATATA	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17			chr19	TogoVar
PRKD2_chr19_46669316_46722114	46703958	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01346.hp2 HG01934.hp2 others(9): Show HG01081.hp2 HG01346.hp2 HG01934.hp2 HG02027.hp1 HG02809.hp2 HG03225.hp1 HG06807.hp2 NA18974.hp1 NA18984.hp2 NA19059.hp1 NA19085.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0004c0011t0001	a0001c0001t0001g0043 a0001c0001t0001g0067 a0001c0001t0002g0009 others(8): Show a0001c0001t0001g0043 a0001c0001t0001g0067 a0001c0001t0002g0009 a0001c0001t0002g0320 a0001c0001t0002g0335 a0001c0001t0002g0341 a0001c0001t0002g0347 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0007g0316 a0004c0011t0001g0127	12	378	0.0318	18	c.889 others(33): Show c.889+193_889+210dupGTGTGTGTGTGTGTGTGT	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	5/17			chr19	TogoVar
PRKD2_chr19_46669316_46722114	46713812	T T	TGCCCCGC others(11): Show TGCCCCGCCCCCACCCGAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0127 a0004c0011t0001g0127	1	378	0.0027	18	c.379 others(31): Show c.379+33_379+50dupCTCGGGTGGGGGCGGGGC	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	2/17			chr19	TogoVar
PRKD3_chr2_37245502_37329833	37249558	G G	GACACACA others(11): Show GACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0017	a0001c0006t0017g0250 a0001c0006t0017g0250	1	388	0.0026	18	c.36 others(29): Show c.3601_*3618dupGTGTGTGTGTGTGTGTGT	PRKD3	ENSG00000115825.11	transcript	ENST00000234179.8	protein_coding		943		chr2	TogoVar
PRKD3_chr2_37245502_37329833	37249643	G G	GACACACA others(11): Show GACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG02293.hp2 others(6): Show HG00639.hp1 HG00741.hp1 HG02293.hp2 HG02300.hp2 HG02809.hp2 HG03471.hp2 HG04184.hp1 NA19012.hp2 NA19054.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0013 others(3): Show a0001c0002 a0001c0004 a0001c0013 a0001c0017 a0002c0005 a0003c0007	a0001c0002t0001 a0001c0004t0004 a0001c0004t0011 others(4): Show a0001c0002t0001 a0001c0004t0004 a0001c0004t0011 a0001c0013t0001 a0001c0017t0001 a0002c0005t0029 a0003c0007t0012	a0001c0002t0001g0311 a0001c0002t0001g0315 a0001c0004t0004g0202 others(6): Show a0001c0002t0001g0311 a0001c0002t0001g0315 a0001c0004t0004g0202 a0001c0004t0004g0236 a0001c0004t0011g0208 a0001c0013t0001g0335 a0001c0017t0001g0166 a0002c0005t0029g0365 a0003c0007t0012g0240	9	388	0.0232	18	c.35 others(29): Show c.3516_*3533dupGTGTGTGTGTGTGTGTGT	PRKD3	ENSG00000115825.11	transcript	ENST00000234179.8	protein_coding		858		chr2	TogoVar
PRKD3_chr2_37245502_37329833	37249643	G G	GACAGACA others(11): Show GACAGACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 NA20129.hp2 HG03471.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0171 a0001c0003t0006g0172 a0001c0003t0006g0171 a0001c0003t0006g0172	2	388	0.0052	18	c.35 others(29): Show c.3533_*3534insGTGTGTGTGTGTGTCTGT	PRKD3	ENSG00000115825.11	transcript	ENST00000234179.8	protein_coding		858		chr2	TogoVar
PRKD3_chr2_37245502_37329833	37252847	T T	TTATATAT others(11): Show TTATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0045 a0001c0004t0045	a0001c0004t0045g0204 a0001c0004t0045g0204	1	388	0.0026	18	c.32 others(27): Show c.329_*330insTATATATATATATATATA	PRKD3	ENSG00000115825.11	transcript	ENST00000234179.8	protein_coding	19/19	329		chr2	TogoVar
PRKG1_chr10_51069487_52303350	51114437	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03453.hp1 HG02622.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0006 a0001c0001t0015 a0001c0002t0006	a0001c0001t0015g0010 a0001c0002t0006g0024 a0001c0001t0015g0010 a0001c0002t0006g0024	2	64	0.0313	18	c.312 others(37): Show c.312-38711_312-38710insTGTGTGTGTGTGTGTGTG	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51115372	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	64	0.0156	18	c.312 others(37): Show c.312-37779_312-37778insTATATATATATATATATA	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(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02896.hp1 HG02965.hp2 others(6): Show HG00735.hp1 HG02896.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03486.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0019 a0001c0001t0002g0041 a0001c0001t0002g0055 others(6): Show a0001c0001t0001g0019 a0001c0001t0002g0041 a0001c0001t0002g0055 a0001c0001t0003g0001 a0001c0001t0003g0023 a0001c0001t0003g0060 a0001c0001t0006g0011 a0001c0002t0001g0017 a0001c0002t0006g0013	9	64	0.1406	18	c.478 others(35): Show c.478+2983_478+2984insCACACACACACACACACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51156323	A A	ACACACAC others(11): Show ACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0053 a0002c0004t0004g0053	1	64	0.0156	18	c.478 others(35): Show c.478+2994_478+2995insACACACACACACACACCC	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(11): Show CTTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02976.hp2 HG03579.hp2 HG01192.hp2 HG02976.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0010 a0002c0004t0004 a0001c0001t0002 a0001c0001t0010 a0002c0004t0004	a0001c0001t0002g0055 a0001c0001t0010g0042 a0002c0004t0004g0053 a0001c0001t0002g0055 a0001c0001t0010g0042 a0002c0004t0004g0053	3	64	0.0469	18	c.478 others(37): Show c.478+51800_478+51801insCTTTTTTTTTTTTTTTTT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51549120	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA20129.hp2 HG01496.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0035 a0001c0001t0009g0039 a0001c0001t0004g0035 a0001c0001t0009g0039	2	64	0.0313	18	c.592 others(37): Show c.592+81288_592+81305dupTTTTTTTTTTTTTTTTTT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51570067	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp2 HG03225.hp2 HG02622.hp2 HG03130.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0014 a0001c0002t0006 a0001c0001t0003 a0001c0001t0014 a0001c0002t0006	a0001c0001t0003g0058 a0001c0001t0014g0032 a0001c0002t0006g0013 a0001c0001t0003g0058 a0001c0001t0014g0032 a0001c0002t0006g0013	3	64	0.0469	18	c.592 others(39): Show c.592+102232_592+102233insATATATATATATATATGT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51570067	A A	ATATATAT others(11): Show ATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	64	0.0156	18	c.592 others(39): Show c.592+102232_592+102233insATATATATATATATGTGT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51578980	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG02886.hp1 others(2): Show HG02615.hp1 HG02622.hp2 HG02886.hp1 HG02965.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0008t0001	a0001c0001t0001g0046 a0001c0001t0003g0023 a0001c0001t0007g0007 others(2): Show a0001c0001t0001g0046 a0001c0001t0003g0023 a0001c0001t0007g0007 a0001c0001t0014g0032 a0001c0008t0001g0020	5	64	0.0781	18	c.592 others(39): Show c.592+111155_592+111172dupTTTTTTTTTTTTTTTTTT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51621007	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	64	0.0156	18	c.592 others(39): Show c.592+153172_592+153173insATATATATATATATATAT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51627879	C C	CCCTTCCC others(11): Show CCCTTCCCTTCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA20129.hp2 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0035 a0001c0001t0010g0042 a0001c0001t0004g0035 a0001c0001t0010g0042	2	64	0.0313	18	c.592 others(39): Show c.592+160075_592+160092dupCCCTTCCTTCCCTTCCTT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51627970	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0044 a0002c0004t0001g0044	1	64	0.0156	18	c.592 others(39): Show c.592+160135_592+160136insTTCTTTCTTTCTTTCTTT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51899671	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0014 a0001c0002t0003g0014	1	64	0.0156	18	c.699 others(35): Show c.699-7829_699-7812dupTATATATATATATATATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51908725	C C	CTATCTAT others(11): Show CTATCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	64	0.0156	18	c.762 others(35): Show c.762+1158_762+1159insCTATATATATATATATAT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51908725	C C	CTATCTAT others(11): Show CTATCTATCTATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0030 a0001c0002t0003g0030	1	64	0.0156	18	c.762 others(35): Show c.762+1158_762+1159insCTATCTATATATATATAT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51908725	C C	CTATCTAT others(11): Show CTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01123.hp2 HG01192.hp2 others(1): Show HG00140.hp1 HG01123.hp2 HG01192.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0001c0001t0012 a0002c0004t0001 others(1): Show a0001c0001t0004 a0001c0001t0012 a0002c0004t0001 a0002c0004t0004	a0001c0001t0004g0035 a0001c0001t0012g0045 a0002c0004t0001g0044 others(1): Show a0001c0001t0004g0035 a0001c0001t0012g0045 a0002c0004t0001g0044 a0002c0004t0004g0053	4	64	0.0625	18	c.762 others(35): Show c.762+1158_762+1159insCTATCTATCTATCTATAT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51908727	A A	ATCTATCT others(11): Show ATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp1 HG03453.hp1 others(2): Show HG02622.hp1 HG02886.hp1 HG03453.hp1 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0002t0006	a0001c0001t0005g0031 a0001c0001t0006g0011 a0001c0001t0007g0007 others(2): Show a0001c0001t0005g0031 a0001c0001t0006g0011 a0001c0001t0007g0007 a0001c0001t0015g0010 a0001c0002t0006g0024	5	64	0.0781	18	c.762 others(35): Show c.762+1158_762+1159insCTATCTATCTATCTATCT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52089804	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	64	0.0156	18	c.935 others(37): Show c.935+27180_935+27197dupTTTTTTTTTTTTTTTTTT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52150149	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01123.hp1 others(10): Show HG00639.hp2 HG00735.hp2 HG01123.hp1 HG01243.hp1 HG02615.hp1 HG02622.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0002t0003 a0001c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0046 a0001c0001t0001g0048 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0002g0005 a0001c0001t0002g0026 a0001c0001t0002g0055 a0001c0001t0003g0009 a0001c0001t0003g0015 a0001c0001t0004g0028 a0001c0001t0014g0032 a0001c0002t0003g0014 a0001c0002t0003g0034 a0001c0008t0001g0020	13	64	0.2031	18	c.100 others(39): Show c.1002-11721_1002-11704dupAATAATAATAATAATAAT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52155732	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	64	0.0156	18	c.100 others(37): Show c.1002-6150_1002-6133dupACACACACACACACACAC	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52166789	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0031 a0001c0001t0005g0031	1	64	0.0156	18	c.107 others(37): Show c.1076+4834_1076+4835insTATATATATGTATATATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52224808	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0027 a0001c0001t0008g0027	1	64	0.0156	18	c.107 others(39): Show c.1077-26748_1077-26731dupTATATATATATATATATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52224836	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	1	64	0.0156	18	c.107 others(39): Show c.1077-26731_1077-26730insTATATATATATATACATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG2_chr4_81082375_81220222	81086593	G G	GTAATAAT others(11): Show GTAATAATAATAATAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01168.hp1 HG01169.hp2 others(7): Show HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01258.hp1 HG01346.hp2 HG01975.hp1 HG02040.hp2 HG03239.hp1 HG04115.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0006 a0001c0001t0002g0033 a0001c0001t0002g0034 others(7): Show a0001c0001t0002g0006 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0044 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0089 a0001c0002t0002g0156 a0001c0002t0002g0173	10	250	0.0400	18	c.31 others(29): Show c.3114_*3115insTTATTATTATTATTATTA	PRKG2	ENSG00000138669.10	transcript	ENST00000264399.6	protein_coding		781		chr4	TogoVar
PRKG2_chr4_81082375_81220222	81086596	A A	ATAATAAT others(11): Show ATAATAATAATAATAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	250	0.0040	18	c.31 others(29): Show c.3111_*3112insATATTATTATTATTATTA	PRKG2	ENSG00000138669.10	transcript	ENST00000264399.6	protein_coding		778		chr4	TogoVar
PRKG2_chr4_81082375_81220222	81110764	G G	GAGAGAGA others(11): Show GAGAGAGAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp2 HG00738.hp1 others(1): Show HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0122 a0001c0001t0001g0124 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0002t0001g0103	4	250	0.0160	18	c.177 others(35): Show c.1777-154_1777-153insGTCTGTCTGTCTCTCTCT	PRKG2	ENSG00000138669.10	transcript	ENST00000264399.6	protein_coding	14/18			chr4	TogoVar
PRKN_chr6_161342417_162732766	161352755	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0013 a0002c0007t0013	a0002c0007t0013g0018 a0002c0007t0013g0018	1	32	0.0313	18	c.128 others(37): Show c.1286-2545_1286-2544insTATATATATATACACACA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	11/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161368382	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0012 a0001c0001t0014g0012	1	32	0.0313	18	c.116 others(37): Show c.1168-8195_1168-8178dupATATATATATATATATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	10/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161426676	C C	CACACACA others(11): Show CACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	32	0.0313	18	c.108 others(39): Show c.1084-39800_1084-39799insATGTGTGTGTGTGTGTGT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	9/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161680775	A A	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	1	32	0.0313	18	c.871 others(39): Show c.871+104996_871+104997insAAAAAAAAAAAAAATATA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161680775	A A	ATATTTTT others(11): Show ATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	1	32	0.0313	18	c.871 others(39): Show c.871+104996_871+104997insAAAAAAAAAAAAAAAATA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161733783	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0020	1	32	0.0313	18	c.871 others(37): Show c.871+51988_871+51989insATATATATATATATTTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161757833	A A	ATCTCTCT others(11): Show ATCTCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0019 a0002c0002t0004g0019	1	32	0.0313	18	c.871 others(37): Show c.871+27938_871+27939insGAGAGAGAGGGAGAGAGA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161874442	A A	ATAAAATA others(11): Show ATAAAATATATATTATATG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0005 a0006c0010t0005	a0006c0010t0005g0013 a0006c0010t0005g0013	1	32	0.0313	18	c.735 others(37): Show c.735-88552_735-88535dupCATATAATATATATTTTA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161874816	G G	GTATAATA others(11): Show GTATAATATATAAAATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG01361.hp1 others(10): Show HG01192.hp1 HG01192.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp2 HG02602.hp1 HG02647.hp2 HG02922.hp1 HG02976.hp2 HG03209.hp1 HG03516.hp2 HG03704.hp2 NA18522.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0004c0009 a0005c0011 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0003t0003 a0002c0002t0001 a0002c0002t0009 a0004c0009t0011 a0005c0011t0012 a0006c0010t0005	a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0002g0005 others(10): Show a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0024 a0001c0001t0004g0029 a0001c0001t0007g0020 a0001c0003t0003g0027 a0002c0002t0001g0016 a0002c0002t0009g0008 a0004c0009t0011g0031 a0005c0011t0012g0009 a0006c0010t0005g0013	13	32	0.4063	18	c.735 others(37): Show c.735-88909_735-88908insTATATTTTATATATTATA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar

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