JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PRKCB_chr16_23830983_24225611	23911128	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03041.hp1 NA18906.hp2 HG02109.hp2 HG03041.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0009 a0001c0004 a0001c0007 a0001c0009	a0001c0004t0009 a0001c0007t0054 a0001c0009t0067 a0001c0004t0009 a0001c0007t0054 a0001c0009t0067	a0001c0004t0009g0026 a0001c0007t0054g0095 a0001c0009t0067g0012 a0001c0004t0009g0026 a0001c0007t0054g0095 a0001c0009t0067g0012	3	148	0.0203	17	c.205 others(36): Show c.205+73731_205+73747dupTTTTTTTTTTTTTTTTT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24096664	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18522.hp2 HG01496.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0079 a0001c0001t0007 a0001c0001t0079	a0001c0001t0007g0005 a0001c0001t0079g0142 a0001c0001t0007g0005 a0001c0001t0079g0142	2	148	0.0135	17	c.821 others(34): Show c.821+2367_821+2368insTATATATATATATATAT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16						chr16	TogoVar
PRKCB_chr16_23830983_24225611	24096666	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0044 a0001c0004t0013g0044	1	148	0.0068	17	c.821 others(34): Show c.821+2370_821+2371insAAAAAAAAAAATATATA		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24193476	T T	TAAATAAA others(10): Show TAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03130.hp1 HG03453.hp1 HG03098.hp1 HG03130.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0017 a0001c0005t0006 a0001c0010t0006 a0001c0001t0017 a0001c0005t0006 a0001c0010t0006	a0001c0001t0017g0082 a0001c0005t0006g0028 a0001c0010t0006g0144 a0001c0001t0017g0082 a0001c0005t0006g0028 a0001c0010t0006g0144	3	148	0.0203	17	c.186 others(36): Show c.1863+2249_1863+2265dupATAAATAAATAAATAAA		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCD_chr3_53156209_53197717	53156244	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03942.hp2 HG02258.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0005 a0001c0001t0011 a0001c0002t0005	a0001c0001t0011g0165 a0001c0002t0005g0215 a0001c0001t0011g0165 a0001c0002t0005g0215	2	322	0.0062	17	c.-53 others(28): Show c.-5316_-5315insTTTTTTTTTTTTTTTTT		PRKCD	ENSG00000163932.16	transcript	ENST00000330452.8	protein_coding					4964		chr3	TogoVar
PRKCD_chr3_53156209_53197717	53188187	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0199 a0001c0011t0001g0199	1	322	0.0031	17	c.141 others(34): Show c.1416-522_1416-506dupAAAAAAAAAAAAAAAAA		PRKCD	ENSG00000163932.16	transcript	ENST00000330452.8	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr3	TogoVar
PRKCE_chr2_45646675_46192990	45744486	T T	TTTCTTTT others(10): Show TTTCTTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0112 a0001c0001t0013g0112	1	168	0.0060	17	c.348 others(36): Show c.348+92040_348+92041insCTTTTTCTTTCTTTCTT		PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	45855125	T T	TTCATCAT others(10): Show TTCATCATCAAACAAATG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	168	0.0060	17	c.412 others(36): Show c.412+12062_412+12063insTCATCATCAAACAAATG		PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	2/14						chr2	TogoVar
PRKCE_chr2_45646675_46192990	45958817	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	168	0.0060	17	c.413 others(36): Show c.413-17612_413-17611insATATATATATATATATA		PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	2/14						chr2	TogoVar
PRKCG_chr19_53877197_53912652	53878650	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0352 a0001c0004t0002g0352	1	362	0.0028	17	c.-38 others(28): Show c.-3845_-3844insAAAATATATATATATAT		PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding					3546		chr19	TogoVar
PRKCH_chr14_61316579_61555976	61329234	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0176 a0001c0007t0001g0176	1	208	0.0048	17	c.363 others(34): Show c.363+6774_363+6790dupTTTTTTTTTTTTTTTTT		PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCQ_chr10_6422148_6585276	6521922	G G	GTTATGTT others(10): Show GTTATGTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02976.hp1 HG02559.hp2 HG02976.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0141 a0001c0004t0003g0142 a0001c0004t0003g0141 a0001c0004t0003g0142	2	252	0.0079	17	c.-9- others(32): Show c.-9-6779_-9-6778insATAAATAAATAACATAA		PRKCQ	ENSG00000065675.16	transcript	ENST00000263125.10	protein_coding	1/17						chr10	TogoVar
PRKCZ_chr1_2045411_2190395	2106871	C C	CCCTCCGG others(10): Show CCCTCCGGTGGGCGAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02622.hp2 others(4): Show HG01243.hp1 HG02055.hp2 HG02622.hp2 HG02723.hp1 HG03130.hp2 HG03492.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0006g0016 others(4): Show a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0006g0016 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0227 a0001c0003t0002g0020	7	286	0.0245	17	c.335 others(36): Show c.335-28386_335-28385insGGTGGGCGAGGACCTCC		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106871	C C	CCCTCTGG others(10): Show CCCTCTGGTGGGCGAGGA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	286	0.0035	17	c.335 others(36): Show c.335-28387_335-28386insTGGTGGGCGAGGACCTC		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2180468	C C	CCAGACGA others(10): Show CCAGACGACGCGGACGCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03041.hp1 HG03471.hp2 HG02055.hp2 HG03041.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0006g0016 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0006g0016	3	286	0.0105	17	c.157 others(36): Show c.1576-4093_1576-4077dupCGACGCGGACGCACAGA		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKD1_chr14_29571479_29932847	29676177	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	156	0.0064	17	c.404 others(34): Show c.404-9970_404-9969insAAAAAAAAAAAAAAAAA		PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	2/17						chr14	TogoVar
PRKD2_chr19_46669316_46722114	46680946	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	378	0.0027	17	c.207 others(34): Show c.2070+703_2070+704insAAAAATATATATATATA		PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17						chr19	TogoVar
PRKD2_chr19_46669316_46722114	46680947	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02976.hp1 HG02109.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0126 a0002c0003t0001g0054 a0001c0001t0001g0126 a0002c0003t0001g0054	2	378	0.0053	17	c.207 others(34): Show c.2070+702_2070+703insTATATATATATATATAT		PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17						chr19	TogoVar
PRKD3_chr2_37245502_37329833	37309769	A A	ACCAGTGA others(10): Show ACCAGTGAGTCGGAACTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0223 a0001c0004t0004g0223	1	388	0.0026	17	c.288 others(34): Show c.288+6467_288+6468insAAGTTCCGACTCACTGG		PRKD3	ENSG00000115825.11	transcript	ENST00000234179.8	protein_coding	2/18						chr2	TogoVar
PRKG1_chr10_51069487_52303350	51205127	C C	CTTTCTTT others(10): Show CTTTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA20129.hp1 HG02615.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0006 a0001c0008t0001 a0001c0001t0006 a0001c0008t0001	a0001c0001t0006g0011 a0001c0008t0001g0020 a0001c0001t0006g0011 a0001c0008t0001g0020	2	64	0.0313	17	c.478 others(36): Show c.478+51800_478+51801insCTTTTTTTTTTTTTTTT		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51554320	A A	ATATATAC others(10): Show ATATATACACACATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0010 a0001c0001t0015g0010	1	64	0.0156	17	c.592 others(36): Show c.592+86495_592+86511dupCATATATTATATACACA		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(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03225.hp2 HG01496.hp2 HG03225.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0003 a0003c0009t0001 a0001c0001t0003 a0003c0009t0001	a0001c0001t0003g0058 a0003c0009t0001g0049 a0001c0001t0003g0058 a0003c0009t0001g0049	2	64	0.0313	17	c.592 others(38): Show c.592+111156_592+111172dupTTTTTTTTTTTTTTTTT		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52089804	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02258.hp1 HG02615.hp1 others(3): Show HG00735.hp1 HG02258.hp1 HG02615.hp1 HG02615.hp2 HG02886.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0057 a0001c0001t0003g0060 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0057 a0001c0001t0003g0060 a0001c0001t0005g0064 a0001c0001t0008g0027 a0001c0008t0001g0020	6	64	0.0938	17	c.935 others(36): Show c.935+27181_935+27197dupTTTTTTTTTTTTTTTTT		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG2_chr4_81082375_81220222	81155177	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18991.hp2 NA19087.hp1 NA18747.hp1 NA18991.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0051	3	250	0.0120	17	c.913 others(34): Show c.913-1457_913-1456insTTTTTTTTTTTTTTTTT		PRKG2	ENSG00000138669.10	transcript	ENST00000264399.6	protein_coding	6/18						chr4	TogoVar
PRKN_chr6_161342417_162732766	161370591	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	1	32	0.0313	17	c.116 others(38): Show c.1168-10403_1168-10387dupTTTTTTTTTTTTTTTTT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	10/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	161646307	C C	CGTGTCAG others(10): Show CGTGTCAGTGACAGTGGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02602.hp2 HG03209.hp1 others(1): Show HG01361.hp1 HG02602.hp2 HG03209.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0002g0024 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0002g0024 a0001c0001t0006g0003	4	32	0.1250	17	c.872 others(36): Show c.872-76892_872-76891insTCCACTGTCACTGACAC		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	161680775	A A	ATATATAT others(10): Show ATATATATATATTTTTTG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	32	0.0313	17	c.871 others(38): Show c.871+104996_871+104997insCAAAAAATATATATATA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	161757833	A A	ATCTCTCT others(10): Show ATCTCTCTCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	32	0.0313	17	c.871 others(36): Show c.871+27938_871+27939insGAGAGAGAGGAGAGAGA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	161874719	C C	CAATATAT others(10): Show CAATATATAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0015 a0003c0005t0001g0015	1	32	0.0313	17	c.735 others(36): Show c.735-88812_735-88811insATATATTTTTATATATT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	161902564	A A	ATCTATTT others(10): Show ATCTATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	32	0.0313	17	c.734 others(36): Show c.734+70737_734+70738insAAAAAAAAAAAAATAGA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162011012	T T	TATATATT others(10): Show TATATATTATAATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0015 a0003c0005t0001g0015	1	32	0.0313	17	c.619 others(36): Show c.619-37612_619-37596dupTATATATTATAATATAT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162011022	A A	AATATATA others(10): Show AATATATAATATATTATG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	32	0.0313	17	c.619 others(36): Show c.619-37606_619-37605insCATAATATATTATATAT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162393155	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18522.hp2 HG03704.hp1 NA18522.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0005 a0001c0001t0001 a0006c0010t0005	a0001c0001t0001g0028 a0006c0010t0005g0013 a0001c0001t0001g0028 a0006c0010t0005g0013	2	32	0.0625	17	c.171 others(36): Show c.171+50138_171+50154dupAAAAAAAAAAAAAAAAA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162414726	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0005 a0006c0010t0005	a0006c0010t0005g0013 a0006c0010t0005g0013	1	32	0.0313	17	c.171 others(36): Show c.171+28583_171+28584insACTTTTTTTTTTTTTTT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162534989	T T	TTCCCCAG others(10): Show TTCCCCAGTCCTCTTCCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01361.hp1 HG03704.hp1 HG01192.hp1 HG01361.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0004g0029 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0004g0029	3	32	0.0938	17	c.8-9 others(32): Show c.8-91533_8-91517dupTGGAAGAGGACTGGGGA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162584865	C C	CCCTCCCC others(10): Show CCCTCCCCTGTCCCATCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	32	0.0313	17	c.8-1 others(34): Show c.8-141393_8-141392insAGATGGGACAGGGGAGG		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11						chr6	TogoVar
PRKX_chrX_3599340_3718649	3613150	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02602.hp1 HG02135.hp1 HG02602.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0006 a0002c0004t0012 a0001c0001t0006 a0002c0004t0012	a0001c0001t0006g0031 a0002c0004t0012g0217 a0001c0001t0006g0031 a0002c0004t0012g0217	2	227	0.0088	17	c.952 others(32): Show c.952-842_952-826dupTTTTTTTTTTTTTTTTT		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	7/8						chrX	TogoVar
PRKX_chrX_3599340_3718649	3613854	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0101 a0001c0001t0060g0101	1	227	0.0044	17	c.952 others(34): Show c.952-1546_952-1530dupTTTTTTTTTTTTTTTTT		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	7/8						chrX	TogoVar
PRMT3_chr11_20382716_20514338	20404219	T T	TTGTTTTG others(10): Show TTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	380	0.0026	17	c.771 others(34): Show c.771+1236_771+1237insGTTTTGTTTTGTTTTGT		PRMT3	ENSG00000185238.13	transcript	ENST00000331079.11	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
PRMT8_chr12_3486203_3598973	3496215	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp2 HG01515.hp1 others(5): Show HG01074.hp1 HG01175.hp2 HG01515.hp1 HG01517.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0182 others(5): Show a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0276 a0001c0001t0001g0277	8	364	0.0220	17	c.75+ others(32): Show c.75+4515_75+4516insATATATATATATATATA		PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9						chr12	TogoVar
PRMT9_chr4_147632785_147689163	147685238	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	222	0.0045	17	c.-12 others(28): Show c.-1252_-1251insAAAAAAAAAGAAAGAAA		PRMT9	ENSG00000164169.13	transcript	ENST00000322396.7	protein_coding					1076		chr4	TogoVar
PRND_chr20_4716909_4733460	4727793	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01978.hp1 HG02293.hp2 HG03942.hp1 others(3): Show HG01978.hp1 HG02293.hp2 HG03942.hp1 HG04204.hp2 NA18994.hp1 NA18994.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0254 a0002c0002t0116 a0002c0002t0124 others(3): Show a0001c0001t0254 a0002c0002t0116 a0002c0002t0124 a0002c0002t0170 a0002c0002t0212 a0005c0005t0202	a0001c0001t0254g0022 a0002c0002t0116g0046 a0002c0002t0124g0008 others(3): Show a0001c0001t0254g0022 a0002c0002t0116g0046 a0002c0002t0124g0008 a0002c0002t0170g0015 a0002c0002t0212g0008 a0005c0005t0202g0007	6	480	0.0125	17	c.27 others(28): Show c.2721_*2722insTTTTTTTTTTTTTTTTT		PRND	ENSG00000171864.5	transcript	ENST00000305817.3	protein_coding	2/2				2722	INFO_REALIGN_3_PRIME	chr20	TogoVar
PROCA1_chr17_28698197_28716888	28708204	T T	TTCACCAT others(10): Show TTCACCATGTTGGACAGG	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	320	0.0031	17	c.92- others(32): Show c.92-1458_92-1442dupCCTGTCCAACATGGTGA		PROCA1	ENSG00000167525.16	transcript	ENST00000682792.1	protein_coding	1/4						chr17	TogoVar
PROCR_chr20_35167072_35182362	35178507	G G	GTTTTGTT others(10): Show GTTTTGTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02055.hp1 HG02970.hp2 others(1): Show HG00642.hp2 HG02055.hp1 HG02970.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0038 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0038 a0001c0001t0001g0061	4	392	0.0102	17	c.16 others(28): Show c.1694_*1695insTTTTGTTTTTTTTTTTT		PROCR	ENSG00000101000.6	transcript	ENST00000216968.5	protein_coding					1146		chr20	TogoVar
PRODH2_chr19_35794988_35817845	35814606	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0065 a0001c0010t0001g0065	1	428	0.0023	17	c.-18 others(28): Show c.-1802_-1801insAAAAAAAAAAAAAAAAA		PRODH2	ENSG00000250799.11	transcript	ENST00000653904.2	protein_coding					1762		chr19	TogoVar
PROKR1_chr2_68638579_68663251	68655228	C C	CCGCAGGA others(10): Show CCGCAGGAAGACGGTCCT	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0016 a0007c0009t0016	a0007c0009t0016g0161 a0007c0009t0016g0161	1	442	0.0023	17	c.835 others(24): Show c.835_851dupCGCAGGAAGACGGTCCT	p.Val others(5): Show p.Val285fs	PROKR1	ENSG00000169618.7	transcript	ENST00000303786.5	protein_coding	3/3	1282/4287	852/1182	284/393		INFO_REALIGN_3_PRIME	chr2	TogoVar
PROKR2_chr20_5294218_5321954	5319668	A A	AATAGAAC others(10): Show AATAGAACAATCATAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0020 a0001c0003t0003g0020	1	424	0.0024	17	c.-31 others(28): Show c.-3184_-3183insAGCTATGATTGTTCTAT		PROKR2	ENSG00000101292.8	transcript	ENST00000678254.1	protein_coding					2715		chr20	TogoVar
PROM1_chr4_15963228_16089023	16004829	T T	TTCTTTCT others(10): Show TTCTTTCTTTTTTCTTCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG00621.hp1 others(30): Show HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG01175.hp1 HG01256.hp1 HG01361.hp1 HG01496.hp1 HG01993.hp2 HG02015.hp1 HG02132.hp1 HG02257.hp2 HG03490.hp2 HG03834.hp2 HG03927.hp2 HG04204.hp2 HG04228.hp1 NA18939.hp2 NA18945.hp1 NA18949.hp1 NA18950.hp2 NA18969.hp1 NA18972.hp1 NA18980.hp2 NA19005.hp2 NA19062.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19091.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0056 a0001c0001t0001g0152 a0001c0001t0001g0160 others(30): Show a0001c0001t0001g0056 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0234 a0001c0001t0001g0268 a0001c0001t0001g0285 a0001c0001t0001g0316 a0001c0001t0002g0080 a0001c0001t0002g0091 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0002g0197 a0001c0001t0002g0211 a0001c0001t0002g0222 a0001c0001t0002g0228 a0001c0001t0002g0256 a0001c0001t0002g0272 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0003g0036 a0001c0001t0003g0148 a0001c0001t0003g0155 a0001c0001t0003g0169 a0001c0001t0003g0278 a0001c0001t0003g0318 a0001c0002t0002g0043 a0001c0003t0002g0016	33	374	0.0882	17	c.145 others(36): Show c.1454+1708_1454+1709insGGAAGAAAAAAGAAAGA		PROM1	ENSG00000007062.12	transcript	ENST00000447510.7	protein_coding	13/27						chr4	TogoVar
PROSER3_chr19_35753176_35776166	35771989	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00544.hp2 others(14): Show HG00099.hp2 HG00280.hp2 HG00544.hp2 HG01074.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01255.hp2 HG01943.hp2 HG02486.hp1 HG02738.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp1 NA19009.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0044 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0044 a0001c0001t0048	a0001c0001t0004g0001 a0001c0001t0004g0010 a0001c0001t0008g0001 others(5): Show a0001c0001t0004g0001 a0001c0001t0004g0010 a0001c0001t0008g0001 a0001c0001t0008g0027 a0001c0001t0008g0106 a0001c0001t0008g0108 a0001c0001t0044g0001 a0001c0001t0048g0134	17	424	0.0401	17	c.34 others(28): Show c.3444_*3445insTTTTTTTTTTTTTTTTT		PROSER3	ENSG00000167595.16	transcript	ENST00000646935.2	protein_coding					824		chr19	TogoVar
PROX2_chr14_74848033_74881145	74878703	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0240 a0001c0001t0020g0240	1	384	0.0026	17	c.-31 others(28): Show c.-3119_-3118insACACACACACACACACA		PROX2	ENSG00000119608.15	transcript	ENST00000556489.4	protein_coding					2559		chr14	TogoVar

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