Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTCC others(17): Show CCTCCTCCTCCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0103 a0001c0002t0001g0002 a0001c0002t0001g0103	2	125	0.0160	24	c.176 others(41): Show c.1765-231_1765-230insCCTCCTCCTTCTTCTTCTTCTTCT		PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTCC others(17): Show CCTCCTCCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02486.hp2 NA20752.hp1 HG01346.hp2 HG02486.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0019 a0001c0001t0001g0200 a0001c0007t0001g0137 a0001c0001t0001g0019 a0001c0001t0001g0200 a0001c0007t0001g0137	3	126	0.0238	24	c.176 others(41): Show c.1765-231_1765-230insCCTCCTTCTTCTTCTTCTTCTTCT		PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTTCTTC others(17): Show CCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	124	0.0081	24	c.176 others(41): Show c.1765-220_1765-197dupCTTCTTCTTCTTCTTCTTCTTCTT		PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCH_chr14_61316579_61555976	61352689	G G	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0206 a0001c0002t0002g0206	1	45	0.0222	24	c.363 others(43): Show c.363+30256_363+30279dupAAGAAAGAAAGAAAGAAAGAAAGA		PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCH_chr14_61316579_61555976	61428076	T T	TAGATAGA others(17): Show TAGATAGATAGATAGATAGATACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0076 a0001c0001t0020g0076	1	92	0.0109	24	c.428 others(43): Show c.428-15034_428-15033insGATAGATAGATAGATAGATACACA		PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCH_chr14_61316579_61555976	61428112	C C	CACATATA others(17): Show CACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0065 a0001c0004t0019g0065	1	84	0.0119	24	c.428 others(43): Show c.428-14998_428-14997insCATATATATATATATATATATATA		PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCH_chr14_61316579_61555976	61428112	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	84	0.0119	24	c.428 others(43): Show c.428-14979_428-14978insATATATATATATATATATATATAT		PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCH_chr14_61316579_61555976	61528973	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0204 a0001c0002t0001g0204	1	40	0.0250	24	c.143 others(39): Show c.1434-92_1434-69dupTGTGTGTGTGTGTGTGTGTGTGTG		PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	10/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKD1_chr14_29571479_29932847	29700986	G G	GCACACAC others(17): Show GCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02622.hp1 HG01884.hp2 HG02055.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0010 a0001c0007t0001 a0001c0001t0002 a0001c0001t0010 a0001c0007t0001	a0001c0001t0002g0091 a0001c0001t0010g0010 a0001c0007t0001g0015 a0001c0001t0002g0091 a0001c0001t0010g0010 a0001c0007t0001g0015	3	146	0.0205	24	c.403 others(43): Show c.403+24549_403+24550insTGTGTGTGTGTGTGTGTGTGTGTG		PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	2/17						chr14	TogoVar
PRKD1_chr14_29571479_29932847	29700988	G G	GCGCGCAC others(17): Show GCGCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	106	0.0094	24	c.403 others(43): Show c.403+24547_403+24548insTGTGTGTGTGTGTGTGTGTGCGCG		PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	2/17						chr14	TogoVar
PRKD2_chr19_46669316_46722114	46680924	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01168.hp1 HG03710.hp2 others(5): Show HG00609.hp2 HG01168.hp1 HG03710.hp2 HG04228.hp2 NA18747.hp2 NA18953.hp1 NA18995.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 a0001c0001t0001 a0001c0001t0002 a0001c0008t0002	a0001c0001t0001g0082 a0001c0001t0001g0123 a0001c0001t0002g0298 others(5): Show a0001c0001t0001g0082 a0001c0001t0001g0123 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0306 a0001c0001t0002g0312 a0001c0001t0002g0323 a0001c0008t0002g0311	8	318	0.0252	24	c.207 others(41): Show c.2070+725_2070+726insTATATATATATATATATATATATA		PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17						chr19	TogoVar
PRKD2_chr19_46669316_46722114	46680946	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01167.hp1 HG01257.hp1 others(10): Show HG00597.hp1 HG01167.hp1 HG01257.hp1 HG01928.hp1 HG01934.hp2 HG02004.hp1 HG03927.hp2 NA18974.hp1 NA18979.hp2 NA18983.hp1 NA19055.hp1 NA19059.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0108 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0108 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0002g0025 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0002g0308 a0001c0001t0002g0326	13	145	0.0897	24	c.207 others(41): Show c.2070+703_2070+704insAATATATATATATATATATATATA		PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17						chr19	TogoVar
PRKD2_chr19_46669316_46722114	46680946	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01978.hp2 HG03942.hp1 others(1): Show HG01074.hp1 HG01978.hp2 HG03942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0078 a0001c0001t0001g0106 a0001c0001t0001g0148 others(1): Show a0001c0001t0001g0078 a0001c0001t0001g0106 a0001c0001t0001g0148 a0001c0001t0002g0307	4	136	0.0294	24	c.207 others(41): Show c.2070+703_2070+704insAAAATATATATATATATATATATA		PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17						chr19	TogoVar
PRKD2_chr19_46669316_46722114	46680946	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02027.hp2 NA18984.hp1 others(2): Show HG02015.hp2 HG02027.hp2 NA18984.hp1 NA19054.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0053 a0001c0001t0001g0116 a0001c0001t0001g0141 others(2): Show a0001c0001t0001g0053 a0001c0001t0001g0116 a0001c0001t0001g0141 a0001c0001t0002g0309 a0001c0005t0001g0030	5	137	0.0365	24	c.207 others(41): Show c.2070+703_2070+704insAAAAAATATATATATATATATATA		PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17						chr19	TogoVar
PRKD3_chr2_37245502_37329833	37249643	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01433.hp2 HG01928.hp2 others(12): Show HG00099.hp2 HG01433.hp2 HG01928.hp2 HG01934.hp2 HG01993.hp2 HG02129.hp1 HG02976.hp1 NA18522.hp1 NA18612.hp1 NA18940.hp1 NA18956.hp1 NA18968.hp1 NA18989.hp2 NA18995.hp1 NA19005.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0006 a0002c0005 others(1): Show a0001c0002 a0001c0006 a0002c0005 a0003c0007	a0001c0002t0001 a0001c0002t0016 a0001c0002t0021 others(4): Show a0001c0002t0001 a0001c0002t0016 a0001c0002t0021 a0001c0002t0022 a0001c0006t0049 a0002c0005t0030 a0003c0007t0012	a0001c0002t0001g0002 a0001c0002t0001g0140 a0001c0002t0001g0141 others(11): Show a0001c0002t0001g0002 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0154 a0001c0002t0001g0290 a0001c0002t0001g0294 a0001c0002t0001g0306 a0001c0002t0001g0310 a0001c0002t0016g0156 a0001c0002t0021g0302 a0001c0002t0022g0326 a0001c0006t0049g0240 a0002c0005t0030g0347 a0003c0007t0012g0131	15	65	0.2308	24	c.35 others(35): Show c.3510_*3533dupGTGTGTGTGTGTGTGTGTGTGTGT		PRKD3	ENSG00000115825.11	transcript	ENST00000234179.8	protein_coding					858		chr2	TogoVar
PRKG1_chr10_51069487_52303350	51156297	G G	GCACACAC others(17): Show GCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02615.hp1 HG01099.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0005 a0001c0008t0001 a0001c0001t0005 a0001c0008t0001	a0001c0001t0005g0061 a0001c0008t0001g0020 a0001c0001t0005g0061 a0001c0008t0001g0020	2	28	0.0714	24	c.478 others(41): Show c.478+2983_478+2984insCACACACACACACACACACACACA		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51435427	T T	TATATATA others(17): Show TATATATATATATATGTCATATGAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02615.hp2 HG02965.hp1 others(1): Show HG01243.hp1 HG02615.hp2 HG02965.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0006	a0001c0001t0001g0057 a0001c0001t0003g0015 a0001c0001t0005g0064 others(1): Show a0001c0001t0001g0057 a0001c0001t0003g0015 a0001c0001t0005g0064 a0001c0002t0006g0013	4	64	0.0625	24	c.479 others(43): Show c.479-32282_479-32281insGTCATATGACATATATATATATAT		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51435441	T T	TGTCATAT others(17): Show TGTCATATGACATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	64	0.0156	24	c.479 others(43): Show c.479-32282_479-32281insGTCATATGACATATATATATATAA		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17						chr10	TogoVar
PRKG1_chr10_51069487_52303350	51570049	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0034 a0001c0002t0003g0034	1	38	0.0263	24	c.592 others(45): Show c.592+102232_592+102233insATATATATATATATATATATATAT		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(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03579.hp1 HG02965.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0004 a0001c0001t0005g0064 a0001c0001t0002g0004 a0001c0001t0005g0064	2	41	0.0488	24	c.592 others(45): Show c.592+102232_592+102233insATATATATATATATATATATATGT		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(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0064 a0001c0001t0005g0064	1	31	0.0323	24	c.592 others(45): Show c.592+111149_592+111172dupTTTTTTTTTTTTTTTTTTTTTTTT		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51852213	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03225.hp2 NA19240.hp1 HG02258.hp1 HG03225.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 a0001c0001t0001 a0001c0001t0003 a0001c0002t0004	a0001c0001t0001g0005 a0001c0001t0003g0058 a0001c0002t0004g0021 a0001c0001t0001g0005 a0001c0001t0003g0058 a0001c0002t0004g0021	3	41	0.0732	24	c.698 others(43): Show c.698+47524_698+47525insGTATATATATATATATATATATAT		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(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02922.hp1 HG02615.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0057 a0001c0001t0001g0007 a0001c0001t0001g0057	2	13	0.1538	24	c.699 others(41): Show c.699-7835_699-7812dupTATATATATATATATATATATATA		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52148957	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0013 a0001c0002t0006g0013	1	35	0.0286	24	c.100 others(45): Show c.1002-12929_1002-12906dupTTTTTTTTTTTTTTTTTTTTTTTT		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52171786	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	13	0.0769	24	c.107 others(43): Show c.1076+9827_1076+9850dupTTTTTTTTTTTTTTTTTTTTTTTT		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(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02965.hp2 HG00639.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0026 a0001c0001t0003g0023 a0001c0001t0002g0026 a0001c0001t0003g0023	2	6	0.3333	24	c.107 others(45): Show c.1077-26754_1077-26731dupTATATATATATATATATATATATA		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52302211	T T	TATATGTA others(17): Show TATATGTATACACATGTATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0020 a0001c0008t0001g0020	1	62	0.0161	24	c.83 others(35): Show c.8311_*8312insATATGTATACACATGTATATACAC		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding					3862		chr10	TogoVar
PRKG2_chr4_81082375_81220222	81092465	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG03209.hp2 others(1): Show HG01891.hp2 HG02717.hp1 HG03209.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0223 a0001c0001t0002g0242 a0001c0001t0004g0210 others(1): Show a0001c0001t0002g0223 a0001c0001t0002g0242 a0001c0001t0004g0210 a0001c0001t0004g0218	4	24	0.1667	24	c.212 others(39): Show c.2127-37_2127-14dupCCTTCCTTCCTTCCTTCCTTCCTT		PRKG2	ENSG00000138669.10	transcript	ENST00000264399.6	protein_coding	17/18						chr4	TogoVar
PRKN_chr6_161342417_162732766	161368382	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0011 a0005c0011t0011	a0005c0011t0011g0009 a0005c0011t0011g0009	1	17	0.0588	24	c.116 others(43): Show c.1168-8201_1168-8178dupATATATATATATATATATATATAT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	10/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	161757833	A A	ATCTCTCT others(17): Show ATCTCTCTCCCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03516.hp2 HG03704.hp1 HG03041.hp1 HG03516.hp2 HG03704.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0001c0001t0006 a0004c0009t0010 a0001c0001t0001 a0001c0001t0006 a0004c0009t0010	a0001c0001t0001g0028 a0001c0001t0006g0010 a0004c0009t0010g0031 a0001c0001t0001g0028 a0001c0001t0006g0010 a0004c0009t0010g0031	3	18	0.1667	24	c.871 others(43): Show c.871+27938_871+27939insGAGAGAGAGAGAGAGGGAGAGAGA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	161757871	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	15	0.0667	24	c.871 others(43): Show c.871+27900_871+27901insCACAGAGAGAGAGAGAGAGAGAGA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	161766314	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	20	0.0500	24	c.871 others(43): Show c.871+19457_871+19458insAAAAAAAAAAAAAAAAAAAAAAAA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	161897966	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	21	0.0476	24	c.734 others(43): Show c.734+75335_734+75336insTTTTTTTTTTTTTTTTTTTTTTTT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	161902546	C C	CTATCTAT others(17): Show CTATCTATCTATCTATCTATCTATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03041.hp2 HG02258.hp2 HG03041.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0002 a0001c0001t0001 a0003c0006t0002	a0001c0001t0001g0011 a0003c0006t0002g0004 a0001c0001t0001g0011 a0003c0006t0002g0004	2	26	0.0769	24	c.734 others(43): Show c.734+70755_734+70756insAATAGATAGATAGATAGATAGATA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	161906659	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02976.hp2 HG02647.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0005 a0001c0004t0001g0006 a0001c0001t0001g0005 a0001c0004t0001g0006	2	19	0.1053	24	c.734 others(43): Show c.734+66642_734+66643insATATATATATATATATATATATAT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162359079	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0012 a0002c0007t0012	a0002c0007t0012g0016 a0002c0007t0012g0016	1	5	0.2000	24	c.171 others(43): Show c.171+84230_171+84231insATATATATATATATATTTTTTTTT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162418613	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	4	0.2500	24	c.171 others(43): Show c.171+24673_171+24696dupACACACACACACACACACACACAC		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162556342	G G	GGGGTGTG others(17): Show GGGGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0020 a0001c0001t0008g0020	1	12	0.0833	24	c.8-1 others(41): Show c.8-112870_8-112869insACACACACACACACACACACACCC		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162727283	A A	AGGGGCGA others(17): Show AGGGGCGAAGGTGAGGGGCGGCGGC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02897.hp2 HG03688.hp1 HG02602.hp2 HG02897.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0005 a0001c0004t0001 a0001c0001t0004 a0001c0001t0005 a0001c0004t0001	a0001c0001t0004g0002 a0001c0001t0005g0003 a0001c0004t0001g0001 a0001c0001t0004g0002 a0001c0001t0005g0003 a0001c0004t0001g0001	3	32	0.0938	24	c.7+3 others(35): Show c.7+355_7+378dupGCCGCCGCCCCTCACCTTCGCCCC		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11						chr6	TogoVar
PRKRIP1_chr7_102391363_102431666	102429710	T T	TGAGACAG others(17): Show TGAGACAGCTGACCCAGGCGGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	380	0.0026	24	c.45 others(35): Show c.4599_*4600insGAGACAGCTGACCCAGGCGGTGGG		PRKRIP1	ENSG00000128563.13	transcript	ENST00000397912.3	protein_coding					3045		chr7	TogoVar
PRKRIP1_chr7_102391363_102431666	102431115	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	379	0.0026	24	c.60 others(35): Show c.6004_*6005insTGTGTGTGTGTGTGTGTGTGTGTG		PRKRIP1	ENSG00000128563.13	transcript	ENST00000397912.3	protein_coding					4450		chr7	TogoVar
PRKRIP1_chr7_102391363_102431666	102431117	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01975.hp1 HG02280.hp2 others(15): Show HG01361.hp1 HG01975.hp1 HG02280.hp2 HG02293.hp2 HG02698.hp1 HG02723.hp1 HG02922.hp2 HG03017.hp1 HG03831.hp2 HG06807.hp1 NA18906.hp2 NA18945.hp1 NA18946.hp2 NA18981.hp2 NA18983.hp2 NA19005.hp2 NA19075.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0021 others(14): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0169 a0001c0001t0001g0180 a0001c0001t0002g0002 a0001c0001t0003g0008 a0001c0001t0003g0138 a0001c0001t0003g0159 a0001c0001t0007g0004 a0001c0001t0008g0126	18	25	0.7200	24	c.60 others(35): Show c.6006_*6007insTGTGTGTGTGTGTGTGTGTGTGTG		PRKRIP1	ENSG00000128563.13	transcript	ENST00000397912.3	protein_coding					4452		chr7	TogoVar
PRKX_chrX_3599340_3718649	3639203	A A	AGGTGGGT others(17): Show AGGTGGGTGGATGGATGAAGGGGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18999.hp2 HG02630.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0007t0058 a0001c0001t0004 a0001c0007t0058	a0001c0001t0004g0105 a0001c0007t0058g0090 a0001c0001t0004g0105 a0001c0007t0058g0090	2	225	0.0089	24	c.719 others(41): Show c.719+2625_719+2648dupCACCCCTTCATCCATCCACCCACC		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8						chrX	TogoVar
PRKX_chrX_3599340_3718649	3639439	G G	GGATGGAT others(17): Show GGATGGATGAAGGGGTGGGGTGGTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0083 a0001c0001t0005g0083	1	225	0.0044	24	c.719 others(41): Show c.719+2412_719+2413insTACCACCCCACCCCTTCATCCATC		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8						chrX	TogoVar
PRLHR_chr10_118584997_118600648	118586926	T T	TTCCCTCC others(17): Show TTCCCTCCACCCCAGGCTGGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02895.hp1 HG03486.hp1 HG02257.hp1 HG02895.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0044 a0001c0001t0003 a0001c0001t0044	a0001c0001t0003g0005 a0001c0001t0044g0053 a0001c0001t0003g0005 a0001c0001t0044g0053	3	398	0.0075	24	c.72 others(35): Show c.7205_*7206insTGGGGCCAGCCTGGGGTGGAGGGA		PRLHR	ENSG00000119973.6	transcript	ENST00000239032.4	protein_coding					3070		chr10	TogoVar
PRLR_chr5_35050702_35235487	35074504	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0114 a0002c0002t0007g0114	1	93	0.0108	24	c.374 others(41): Show c.374-1761_374-1760insATATATATATATATATATATATAT		PRLR	ENSG00000113494.17	transcript	ENST00000618457.5	protein_coding	5/9						chr5	TogoVar
PRLR_chr5_35050702_35235487	35193811	A A	AGGTCATA others(17): Show AGGTCATATGGGCTAATTCTGATGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0056 a0001c0003t0056	a0001c0003t0056g0205 a0001c0003t0056g0205	1	212	0.0047	24	c.-10 others(45): Show c.-106+36433_-106+36456dupGCATCAGAATTAGCCCATATGACC		PRLR	ENSG00000113494.17	transcript	ENST00000618457.5	protein_coding	1/9						chr5	TogoVar
PRL_chr6_22282246_22302036	22293639	G G	GAAGGAAG others(17): Show GAAGGAAGGAGGGAAGGAAGGAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01884.hp2 others(7): Show HG00642.hp2 HG01081.hp1 HG01884.hp2 HG02145.hp1 HG02145.hp2 HG02723.hp1 HG02818.hp2 HG03098.hp2 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0038 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0090 a0001c0003t0001g0057 a0001c0003t0001g0058	10	163	0.0613	24	c.204 others(39): Show c.204+769_204+770insTTTTCCTTCCTTCCCTCCTTCCTT		PRL	ENSG00000172179.13	transcript	ENST00000306482.2	protein_coding	2/4						chr6	TogoVar
PRM2_chr16_11270639_11281480	11273413	T T	TTCCCCCT others(17): Show TTCCCCCTCCTCCTCCTCTTCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	400	0.0025	24	c.24 others(35): Show c.2463_*2486dupGGAGGAAGAGGAGGAGGAGGGGGA		PRM2	ENSG00000122304.11	transcript	ENST00000241808.9	protein_coding					2225		chr16	TogoVar
PRM3_chr16_11268199_11278629	11273413	T T	TTCCCCCT others(17): Show TTCCCCCTCCTCCTCCTCTTCCTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00438.hp1 HG00438.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0000 a0005c0007t0001g0000	1	412	0.0024	24	c.159 others(31): Show c.159_182dupGGAGGAAGAGGAGGAGGAGGGGGA	p.Glu others(35): Show p.Glu61_Glu62insGluGluGluGluGluGluGlyGlu	PRM3	ENSG00000178257.4	transcript	ENST00000327157.4	protein_coding	1/1	216/431	182/312	61/103			chr16	TogoVar

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