Joint Open Genome and Omics Platform (JoGo)

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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
OCLN_chr5_69487790_69563104	69515539	C C	CCCCCCCC others(94): Show CCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG CTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGGGGGGGCT GA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04204.hp2 HG03704.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0238 a0001c0001t0002g0014 a0001c0001t0002g0238	2	290	0.0069	101	c.891 others(118): Show c.891+1438_891+1439insCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGG CCGGGGGGGGGCTGACCCCCCCC	OCLN	ENSG00000197822.12	transcript	ENST00000396442.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
ODF3_chr11_191761_205258	196573	A A	AGGACATG others(94): Show AGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGCGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGCGGGGGACCTTGGTGA GG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	388	0.0026	101	c.-48 others(110): Show c.-482_-481insGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATGCGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGCGG GGGACCTTGGTGAGG	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		187		chr11	TogoVar
OPHN1_chrX_68037344_68438495	68325599	A A	AGTCTCCC others(94): Show AGTCTCCCTCTCCCCTCTCCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCGTCTCCCCTCTCCCTCTCACCCGTCTCCCGTCTCCCTCTCCCTCTC CC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0085 a0001c0003t0010g0085	1	155	0.0065	101	c.155 others(120): Show c.155-26504_155-26503insGGGAGAGGGAGAGGGAGACGGGAGAC GGGTGAGAGGGAGAGGGGAGACGGGAGAGGGAGACGGGAGAGGGAGAGGG AGACGGGGAGAGGGGAGAGGGAGAC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OR1J2_chr9_122505802_122516743	122515390	G G	GTGTGTAT others(94): Show GTGTGTATACGGGTGCTCAGCATTTGTCTGTGCTCTTCTGGAGTCATTTT TTATTCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	468	0.0021	101	c.36 others(112): Show c.3647_*3648insTGTGTATACGGGTGCTCAGCATTTGTCTGTGCTC TTCTGGAGTCATTTTTTATTCCGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTA	OR1J2	ENSG00000197233.7	transcript	ENST00000335302.5	protein_coding		3648		chr9	TogoVar
OR1J4_chr9_122514141_122525082	122515390	G G	GTGTGTAT others(94): Show GTGTGTATACGGGTGCTCAGCATTTGTCTGTGCTCTTCTGGAGTCATTTT TTATTCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	1	440	0.0023	101	c.-37 others(112): Show c.-3751_-3750insTGTGTATACGGGTGCTCAGCATTTGTCTGTGCTC TTCTGGAGTCATTTTTTATTCCGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTA	OR1J4	ENSG00000239590.1	transcript	ENST00000340750.1	protein_coding		3750		chr9	TogoVar
OR2L13_chr1_248090184_248106163	248103040	T T	TTAATTTA others(94): Show TTAATTTAAATAATAAATAAAATAATTATTAATAATTTAATTAAATAATA AATAAAATAATTATTAATAATTTAATTAAATAATAAATAAAATAATTATT AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	440	0.0023	101	c.27 others(112): Show c.2726_*2727insTAATTTAAATAATAAATAAAATAATTATTAATAA TTTAATTAAATAATAAATAAAATAATTATTAATAATTTAATTAAATAATA AATAAAATAATTATTAA	OR2L13	ENSG00000196071.6	transcript	ENST00000358120.4	protein_coding		1878		chr1	TogoVar
PAIP2B_chr2_71177738_71232103	71203360	T T	TAATTATT others(94): Show TAATTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGTTCCACAAATATTTATTGAGCACTCCATGAACCAGACTATTCATAAG GC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	378	0.0027	101	c.-11 others(116): Show c.-11-761_-11-760insGCCTTATGAATAGTCTGGTTCATGGAGTGC TCAATAAATATTTGTGGAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGAAATAATT	PAIP2B	ENSG00000124374.9	transcript	ENST00000244221.9	protein_coding	1/3			chr2	TogoVar
PARD3_chr10_34104561_34820296	34623803	A A	AAATACAA others(94): Show AAATACAAAAAATACTAAAATACTAAACACTAAATATAACTAAATAAAAC TAAATATAACTAAATAAAACTAAATATAACTAAATAAAAACACTAAAAAT AC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0065 a0001c0015t0001g0065	1	100	0.0100	101	c.222 others(120): Show c.222+72514_222+72515insGTATTTTTAGTGTTTTTATTTAGTTA TATTTAGTTTTATTTAGTTATATTTAGTTTTATTTAGTTATATTTAGTGT TTAGTATTTTAGTATTTTTTGTATT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PATL1_chr11_59631716_59674037	59632729	C C	CTAGATAT others(94): Show CTAGATATATATCTATATATATCTATATATATATCATATATATATAGATA TATATCTATATATATCTATATATATATCTATATATATCTATATATATATC TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	276	0.0036	101	c.56 others(112): Show c.5660_*5661insTAGATATATATATAGATATATATAGATATATATA TAGATATATATAGATATATATCTATATATATATGATATATATATAGATAT ATATAGATATATATCTA	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		3986		chr11	TogoVar
PAX1_chr20_21700664_21723481	21721656	A A	ATATATGT others(94): Show ATATATGTAATACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATTA CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0027 a0002c0003t0027	a0002c0003t0027g0036 a0002c0003t0027g0036	2	400	0.0050	101	c.70 others(112): Show c.7094_*7095insTATATGTAATACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATTACG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3176		chr20	TogoVar
PCBP3_chr21_45638725_45947450	45886074	A A	ACCAAGGG others(94): Show ACCAAGGGCAGAGGACGTGGTGAGGTGTGGAGGAGGCCTCGTTGCCGCGG GTGCCAAGGGCAGAGGATGTGGTGAGGTGTGGAGGCCTCATTGCTGCGGG TG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0174 a0002c0006t0001g0174	1	292	0.0034	101	c.11- others(118): Show c.11-10095_11-10094insGTTGCCGCGGGTGCCAAGGGCAGAGGAT GTGGTGAGGTGTGGAGGCCTCATTGCTGCGGGTGCCAAGGGCAGAGGACG TGGTGAGGTGTGGAGGAGGCCTC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCGF3_chr4_700832_775089	706201	G G	GCCCAGCC others(94): Show GCCCAGCCCAGGCAGGACCCCGGGAGGGCTGGGACTCCAGCCCAGGCAGG ACGCAGGGAGGGCAAGACCCCAGCCCAGGCAGGACTCCGGGAGGTCGAAG AC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18986.hp2 NA18964.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0068 a0001c0001t0006 a0001c0001t0068	a0001c0001t0006g0144 a0001c0001t0068g0145 a0001c0001t0006g0144 a0001c0001t0068g0145	2	366	0.0055	101	c.-19 others(118): Show c.-190+272_-190+273insCAGGCAGGACGCAGGGAGGGCAAGACCC CAGCCCAGGCAGGACTCCGGGAGGTCGAAGACCCCAGCCCAGGCAGGACC CCGGGAGGGCTGGGACTCCAGCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	758774	G G	GTCTTTCT others(94): Show GTCTTTCTCCCCACGCGGCCCCTCTCCCGAGTTCTCCCTCCAGACTCCGG GTCTTTCCCCGCACGGCCCCTCCCCCGAGTTCTTCTCCATCCCGACTCCA GT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0152 a0001c0001t0013g0152	1	366	0.0027	101	c.463 others(118): Show c.463-2494_463-2493insACGCGGCCCCTCTCCCGAGTTCTCCCTC CAGACTCCGGGTCTTTCCCCGCACGGCCCCTCCCCCGAGTTCTTCTCCAT CCCGACTCCAGTTCTTTCTCCCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	758827	G G	GTCTTTCT others(94): Show GTCTTTCTCCCCACGCGGCCCCTCTCCCGAGTTCTCCCTCCAGACTCCGG GTCTTTCCCCGCACGGCCCCTCCCCCGAGTTCTTCTCCATCCCGACTCCA GT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0046	a0002c0002t0046g0005 a0002c0002t0046g0005	1	366	0.0027	101	c.463 others(118): Show c.463-2441_463-2440insACGCGGCCCCTCTCCCGAGTTCTCCCTC CAGACTCCGGGTCTTTCCCCGCACGGCCCCTCCCCCGAGTTCTTCTCCAT CCCGACTCCAGTTCTTTCTCCCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	758880	G G	GTCTTTCT others(94): Show GTCTTTCTCCCCACGCGGCCCCTCTCCCGAGTTCTCCCTCCAGACTCCGG GTCTTTCCCCGCACGGCCCCTCCCCCGAGTTCTTCTCCATCCCGACTCCA GT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18990.hp1 HG02132.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0042 a0001c0001t0003g0043	2	366	0.0055	101	c.463 others(118): Show c.463-2388_463-2387insACGCGGCCCCTCTCCCGAGTTCTCCCTC CAGACTCCGGGTCTTTCCCCGCACGGCCCCTCCCCCGAGTTCTTCTCCAT CCCGACTCCAGTTCTTTCTCCCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	759575	C C	CTTCCCGT others(94): Show CTTCCCGTGCGGCCCCTCTCCCGAGCTCTTCTCGCTCCGGACTCTGGGTC TTTCTCCCCACGCGGCCCCTCTCCCGAGTTCTCCCTCCAGACTCCGGGTC TT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03017.hp2 HG03491.hp1 others(10): Show HG02080.hp1 HG03017.hp2 HG03491.hp1 HG03492.hp1 HG03942.hp1 HG04204.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA19004.hp2 NA19007.hp2 NA19066.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0001t0013 a0001c0001t0031 others(3): Show a0001c0001t0006 a0001c0001t0013 a0001c0001t0031 a0001c0001t0042 a0001c0001t0067 a0001c0006t0006	a0001c0001t0006g0082 a0001c0001t0006g0083 a0001c0001t0006g0086 others(10): Show a0001c0001t0006g0082 a0001c0001t0006g0083 a0001c0001t0006g0086 a0001c0001t0006g0087 a0001c0001t0006g0093 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0101 a0001c0001t0013g0152 a0001c0001t0031g0105 a0001c0001t0042g0299 a0001c0001t0067g0092 a0001c0006t0006g0094	13	366	0.0355	101	c.463 others(118): Show c.463-1703_463-1702insTCCCGTGCGGCCCCTCTCCCGAGCTCTT CTCGCTCCGGACTCTGGGTCTTTCTCCCCACGCGGCCCCTCTCCCGAGTT CTCCCTCCAGACTCCGGGTCTTT	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK6_chr15_101298933_101494707	101311757	G G	GTCACCCC others(94): Show GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCAT CA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0001 a0007c0025t0001	a0007c0025t0001g0325 a0007c0025t0001g0325	1	336	0.0030	101	c.269 others(120): Show c.2699+1618_2699+1619insTGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGGGTGA CGATGGGGTGGGCTGTGAGGGGTGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311761	C C	CCCCTCAC others(94): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01934.hp2 HG02148.hp2 others(4): Show HG00609.hp2 HG01934.hp2 HG02148.hp2 HG03831.hp2 NA18974.hp1 NA19005.hp1 NA19081.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0021	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0003c0015 a0007c0025 a0021c0072	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0011t0001 a0003c0015t0012 a0007c0025t0001 a0021c0072t0001	a0001c0001t0001g0279 a0001c0002t0001g0215 a0001c0006t0001g0122 others(4): Show a0001c0001t0001g0279 a0001c0002t0001g0215 a0001c0006t0001g0122 a0001c0011t0001g0214 a0003c0015t0012g0319 a0007c0025t0001g0324 a0021c0072t0001g0335	7	336	0.0208	101	c.269 others(120): Show c.2699+1614_2699+1615insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311822	C C	CCACCCCA others(94): Show CCACCCCATCGTCACCCCTCACAGCCCACCCCATCATCACCCCTCACAGC TCACCCCATCGTCACCCCTCACAGCTCACCCCATCATCACACCCTCACAG CT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0013 a0002c0018t0013	a0002c0018t0013g0031 a0002c0018t0013g0031	1	336	0.0030	101	c.269 others(120): Show c.2699+1553_2699+1554insAGCTGTGAGGGTGTGATGATGGGGTG AGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGATGATGGGGTG GGCTGTGAGGGGTGACGATGGGGTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311836	C C	CACCCTCA others(94): Show CACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC AC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0136	1	336	0.0030	101	c.269 others(120): Show c.2699+1539_2699+1540insGTGACGATGGGGTGGGCTGTGAGGGG TGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGG TGACGATGGGGTGGGCTGTGAGGGT	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312088	C C	CCCCTCAC others(94): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CACCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGT CA	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19057.hp2 HG00544.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0151 a0001c0004t0001g0130 a0001c0002t0001g0151 a0001c0004t0001g0130	2	336	0.0060	101	c.269 others(120): Show c.2699+1287_2699+1288insTGACGATGGGGTGGGCTGTGAGGGTG TGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312150	C C	CCACCCCA others(94): Show CCACCCCATCGTCACACCCTCACAGCCCACCCCATCGTCACCCCTCACAG CCCACCCCATCGTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAG CT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	336	0.0030	101	c.269 others(120): Show c.2699+1225_2699+1226insAGCTGTGAGGGGTGACGATGGGGTGA GCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGG GCTGTGAGGGTGTGACGATGGGGTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDIA6_chr2_10778391_10817785	10806648	A A	AAGAAGGA others(94): Show AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGACAG AC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02074.hp1 HG02602.hp1 others(3): Show HG01123.hp2 HG02074.hp1 HG02602.hp1 NA18943.hp1 NA18975.hp2 NA19054.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0003t0001g0240 others(3): Show a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0241 a0001c0003t0001g0246 a0001c0003t0001g0247	6	342	0.0175	101	c.20- others(116): Show c.20-4009_20-4008insGTCTGTCTGTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741280	G G	GGGGGGCT others(94): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTC GC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	358	0.0028	101	c.143 others(116): Show c.143-382_143-381insCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGG CTGGCGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741395	G G	GGGGGGCT others(94): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTC GC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0116 a0001c0001t0091g0116	1	358	0.0028	101	c.143 others(116): Show c.143-267_143-266insCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGC TCGCGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741395	G G	GGGGGGCT others(94): Show GGGGGGCTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGAGGG GCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTC GC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0071 a0001c0002t0071	a0001c0002t0071g0067 a0001c0002t0071g0067	1	358	0.0028	101	c.143 others(116): Show c.143-267_143-266insCTGGCGGGGGGCTGGCGGGGGGCTGGCGGG GGGCTCGCGGAGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGG CTCGCGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741419	G G	GGGGGGCT others(94): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTC GC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0086 a0001c0002t0028g0086	1	358	0.0028	101	c.143 others(116): Show c.143-243_143-242insCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGG CTCGCGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(94): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTC TC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG03516.hp1 HG02071.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0004 a0001c0001t0001g0027	2	426	0.0047	101	c.48 others(112): Show c.4863_*4864insGAGAGAGGGAGAGGGAGAGGGAGGGGGAGGGGGG AGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAG AGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(94): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCTCTCCCTCTCCCTCTC TC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	426	0.0024	101	c.48 others(112): Show c.4863_*4864insGAGAGAGGGAGAGGGAGAGGGAGGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAG AGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(94): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCTCTCTC TC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0024	101	c.48 others(112): Show c.4863_*4864insGAGAGAGAGGAGAGGGAGAGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAG AGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(94): Show TTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCTCTCTCTCTCTCTCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCTGTCTCTCTCTCTCTCTC TC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	426	0.0024	101	c.48 others(112): Show c.4863_*4864insGAGAGAGAGAGAGAGAGACAGAGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGGAGAGAGGGGGAGAG AGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PFKFB3_chr10_6197932_6240532	6206576	A A	AGGGGGTG others(94): Show AGGGGGTGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACTCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02886.hp1 others(1): Show HG02630.hp1 HG02647.hp1 HG02886.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0016 a0001c0001t0021 a0001c0001t0010 a0001c0001t0016 a0001c0001t0021	a0001c0001t0010g0386 a0001c0001t0010g0409 a0001c0001t0016g0385 others(1): Show a0001c0001t0010g0386 a0001c0001t0010g0409 a0001c0001t0016g0385 a0001c0001t0021g0347	4	432	0.0093	101	c.76+ others(116): Show c.76+3244_76+3245insGTGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCTGGACGG GGCGGCTGGCCGGGCAGGGGG	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHACTR3_chr20_59599540_59852711	59674847	G G	GTTCTGCC others(94): Show GTTCTGCCCTTCTCCTGTTCCCCCTCCTCCTGTTCCCCCCTTCTCTGGTT CCCTCCTTCTCCTGTTCCCCCTCCTTCTGTTTCCCCCCTTCTCCTCTTCC CA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	250	0.0040	101	c.119 others(120): Show c.119-68260_119-68259insTTCTGCCCTTCTCCTGTTCCCCCTCC TCCTGTTCCCCCCTTCTCTGGTTCCCTCCTTCTCCTGTTCCCCCTCCTTC TGTTTCCCCCCTTCTCCTCTTCCCA	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12			chr20	TogoVar
PHRF1_chr11_571470_617222	581256	T T	TAGGGCTC others(94): Show TAGGGCTCACCCTTCACGTGCTGTGGCGGTGGATGTGACACTGGGACACT GGGGTGTGGCCTGTGGGGATACTGCTGAGAGTTGTTCTGTGGGTGATATC TC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG02896.hp1 others(3): Show HG02630.hp1 HG02818.hp2 HG02896.hp1 HG03209.hp1 NA19240.hp1 NA20300.hp2	a0009 a0013 a0016 a0009 a0013 a0016	a0009c0012 a0013c0021 a0013c0022 others(1): Show a0009c0012 a0013c0021 a0013c0022 a0016c0020	a0009c0012t0003 a0013c0021t0008 a0013c0022t0008 others(1): Show a0009c0012t0003 a0013c0021t0008 a0013c0022t0008 a0016c0020t0009	a0009c0012t0003g0067 a0009c0012t0003g0082 a0009c0012t0003g0176 others(3): Show a0009c0012t0003g0067 a0009c0012t0003g0082 a0009c0012t0003g0176 a0013c0021t0008g0251 a0013c0022t0008g0123 a0016c0020t0009g0249	6	279	0.0215	101	c.-21 others(116): Show c.-21-226_-21-126dupCCTTCACGTGCTGTGGCGGTGGATGTGACA CTGGGACACTGGGGTGTGGCCTGTGGGGATACTGCTGAGAGTTGTTCTGT GGGTGATATCTCAGGGCTCAC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	581256	T T	TAGGGCTC others(94): Show TAGGGCTCACCCTTCACGTGCTGTGGCGGTGGATTTGACACTGGGACACT GGGGTGTGGCCTGTGGGGATACTGCTGAGAGTTGTTCTGTGGGTGATATC TC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG02630.hp2 others(3): Show HG02145.hp2 HG02451.hp2 HG02630.hp2 HG03486.hp1 NA18906.hp1 NA19240.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0004 a0006c0008t0010 a0006c0008t0004 a0006c0008t0010	a0006c0008t0004g0080 a0006c0008t0004g0081 a0006c0008t0004g0121 others(3): Show a0006c0008t0004g0080 a0006c0008t0004g0081 a0006c0008t0004g0121 a0006c0008t0004g0178 a0006c0008t0004g0247 a0006c0008t0010g0068	6	279	0.0215	101	c.-21 others(116): Show c.-21-203_-21-202insTTGACACTGGGACACTGGGGTGTGGCCTGT GGGGATACTGCTGAGAGTTGTTCTGTGGGTGATATCTCAGGGCTCACCCT TCACGTGCTGTGGCGGTGGAT	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PIK3C2A_chr11_17081575_17212986	17193868	A A	AGGAGGGG others(94): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02602.hp1 HG00423.hp2 HG02602.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0031 a0001c0003t0004g0061 a0001c0003t0004g0031 a0001c0003t0004g0061	2	342	0.0059	101	c.-66 others(120): Show c.-66+13979_-66+13980insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PIP5K1C_chr19_3625183_3705468	3649253	A A	ACCCGGCA others(94): Show ACCCGGCACCATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTC ACCCGGCACCATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTC AC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0012 a0001c0018t0012	a0001c0018t0012g0041 a0001c0018t0012g0041	1	332	0.0030	101	c.112 others(118): Show c.1128-546_1128-545insGTGACAGTTAACTCCCGCGCTGGGCAGG GGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAGG GGACGTGTGGGCATGGTGCCGGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PITPNM3_chr17_6446263_6561555	6561108	T T	TCTCCTCT others(94): Show TCTCCTCTTCTTTCTCCCCTCCTCCTCTTCCTCCTTCTCCCCTCCTCCTC TTCCTCATCCTCCTCCCCTCCTCTTCCTCCTTCTCATCCTCCTTCCCTCT TC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp1 others(99): Show HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01169.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01943.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18945.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18975.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19081.hp1 NA19088.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0023 a0001c0024 a0002c0004 a0002c0005 a0002c0009 a0002c0016 a0002c0018 a0003c0008 a0004c0026 a0006c0021 a0007c0015 a0008c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(65): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0037 a0001c0001t0042 a0001c0001t0061 a0001c0001t0074 a0001c0001t0079 a0001c0001t0091 a0001c0001t0093 a0001c0001t0094 a0001c0001t0096 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0029 a0001c0002t0052 a0001c0003t0001 a0001c0003t0017 a0001c0003t0021 a0001c0003t0040 a0001c0003t0041 a0001c0003t0057 a0001c0003t0075 a0001c0003t0076 a0001c0003t0080 a0001c0003t0081 a0001c0003t0095 a0001c0006t0053 a0001c0007t0013 a0001c0007t0084 a0001c0010t0003 a0001c0011t0036 a0001c0023t0034 a0001c0024t0087 a0002c0004t0001 a0002c0004t0004 a0002c0004t0007 a0002c0004t0008 a0002c0004t0011 a0002c0004t0014 a0002c0004t0024 a0002c0004t0047 a0002c0005t0009 a0002c0005t0017 a0002c0009t0090 a0002c0016t0012 a0002c0018t0078 a0003c0008t0002 a0003c0008t0005 a0003c0008t0016 a0003c0008t0097 a0004c0026t0049 a0006c0021t0092 a0007c0015t0046 a0008c0017t0005	a0001c0001t0001g0116 a0001c0001t0001g0137 a0001c0001t0001g0141 others(99): Show a0001c0001t0001g0116 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0201 a0001c0001t0004g0167 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0209 a0001c0001t0006g0128 a0001c0001t0007g0109 a0001c0001t0010g0123 a0001c0001t0010g0124 a0001c0001t0010g0133 a0001c0001t0010g0147 a0001c0001t0011g0038 a0001c0001t0013g0169 a0001c0001t0015g0112 a0001c0001t0015g0173 a0001c0001t0020g0186 a0001c0001t0026g0148 a0001c0001t0028g0206 a0001c0001t0037g0183 a0001c0001t0042g0114 a0001c0001t0061g0145 a0001c0001t0074g0159 a0001c0001t0079g0157 a0001c0001t0091g0028 a0001c0001t0093g0192 a0001c0001t0094g0171 a0001c0001t0096g0208 a0001c0002t0002g0043 a0001c0002t0003g0211 a0001c0002t0005g0115 a0001c0002t0012g0187 a0001c0002t0018g0198 a0001c0002t0019g0190 a0001c0002t0020g0212 a0001c0002t0029g0130 a0001c0002t0052g0003 a0001c0003t0001g0174 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0214 a0001c0003t0017g0067 a0001c0003t0021g0158 a0001c0003t0021g0163 a0001c0003t0040g0125 a0001c0003t0041g0215 a0001c0003t0057g0188 a0001c0003t0075g0216 a0001c0003t0076g0191 a0001c0003t0080g0210 a0001c0003t0081g0199 a0001c0003t0095g0213 a0001c0006t0053g0051 a0001c0007t0013g0189 a0001c0007t0084g0005 a0001c0010t0003g0139 a0001c0010t0003g0140 a0001c0011t0036g0170 a0001c0023t0034g0200 a0001c0024t0087g0127 a0002c0004t0001g0185 a0002c0004t0004g0042 a0002c0004t0007g0039 a0002c0004t0007g0040 a0002c0004t0007g0041 a0002c0004t0008g0111 a0002c0004t0008g0135 a0002c0004t0011g0110 a0002c0004t0014g0156 a0002c0004t0014g0160 a0002c0004t0024g0131 a0002c0004t0024g0197 a0002c0004t0047g0129 a0002c0005t0009g0166 a0002c0005t0017g0117 a0002c0005t0017g0181 a0002c0009t0090g0002 a0002c0016t0012g0207 a0002c0018t0078g0066 a0003c0008t0002g0175 a0003c0008t0005g0176 a0003c0008t0016g0119 a0003c0008t0097g0172 a0004c0026t0049g0004 a0006c0021t0092g0168 a0007c0015t0046g0155 a0008c0017t0005g0126	102	218	0.4679	101	c.-47 others(112): Show c.-4703_-4702insGAAGAGGGAAGGAGGATGAGAAGGAGGAAGAGGA GGGGAGGAGGATGAGGAAGAGGAGGAGGGGAGAAGGAGGAAGAGGAGGAG GGGAGAAAGAAGAGGAG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4554		chr17	TogoVar
PLCXD1_chrX_276381_308356	280678	G G	GGGAGGCC others(94): Show GGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGT GCAGGGGGAGGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGCA GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0060 a0001c0001t0087g0060	1	176	0.0057	101	c.-10 others(112): Show c.-1028_-1027insGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGG CAGAGGGGAAGACGTGCAGGGGGAGGGGAGGCCGTGCAGGAGGAGGGGAG GCCGTGCAGGGGGCAGC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		702		chrX	TogoVar
PLCXD1_chrX_276381_308356	280678	G G	GGGAGGCC others(94): Show GGGAGGCCGTGCAGGGTGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGT GCAGGGGGAGGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGCA GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0077 a0010c0008t0077	a0010c0008t0077g0072 a0010c0008t0077g0072	1	176	0.0057	101	c.-10 others(112): Show c.-1028_-1027insGGAGGCCGTGCAGGGTGAAGGGAGGCCGTGCAGG CAGAGGGGAAGACGTGCAGGGGGAGGGGAGGCCGTGCAGGAGGAGGGGAG GCCGTGCAGGGGGCAGC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		702		chrX	TogoVar
PLCXD1_chrX_276381_308356	280804	C C	CCGTGCAG others(94): Show CCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGG GGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAA GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0108 a0008c0011t0108	a0008c0011t0108g0022 a0008c0011t0108g0022	1	176	0.0057	101	c.-90 others(110): Show c.-902_-901insCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCG GAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGC AGGCAGAGGGGAAGA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		576		chrX	TogoVar
PLD4_chr14_104919879_104938236	104933898	G G	GCTGAGGG others(94): Show GCTGAGGGGACAGGGAGGGCGGGAGGGGACCCGCGGCTGAGTGAGGGGAG GGTGGGAGGGGACCCGCGGCTGAGGGGACAGGGAGGGCGGGAGGGGACCC GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 NA19030.hp2 HG00639.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	426	0.0047	101	c.93 others(110): Show c.934_*935insCTGAGGGGACAGGGAGGGCGGGAGGGGACCCGCGGC TGAGTGAGGGGAGGGTGGGAGGGGACCCGCGGCTGAGGGGACAGGGAGGG CGGGAGGGGACCCGC	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		663		chr14	TogoVar
PLGRKT_chr9_5352971_5442925	5424438	A A	AAATATAA others(94): Show AAATATAATATATTATATATTATAACATATAATATATAACATATTATAAA ATATAATATATTATATATTATAACATATAATATATAACATATTATAAAAT AT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0344	1	414	0.0024	101	c.81+ others(116): Show c.81+7458_81+7459insATATTTTATAATATGTTATATATTATATGT TATAATATATAATATATTATATTTTATAATATGTTATATATTATATGTTA TAATATATAATATATTATATT	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLGRKT_chr9_5352971_5442925	5424438	A A	AAATATAA others(94): Show AAATATAATATATTATATATTATAACATATAATATATAATATATTATAAA ATATAATATATTATATATTATAACATATAATATATAACATATTATAAAAT AT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp1 HG02896.hp2 others(2): Show HG01891.hp1 HG02895.hp1 HG02896.hp2 HG03098.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 others(2): Show a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349	5	414	0.0121	101	c.81+ others(116): Show c.81+7458_81+7459insATATTTTATAATATGTTATATATTATATGT TATAATATATAATATATTATATTTTATAATATATTATATATTATATGTTA TAATATATAATATATTATATT	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PNLDC1_chr6_159795276_159825704	159816140	G G	GCCACACC others(94): Show GCCACACCCCTCCCCACCCACCCGCCACACCCCTCCCCTCCCCCCCACCC CCCCCCACCCCACCCACACCCCTCCCCGCCCCCCCACACCCCTCCCCGCC CC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	400	0.0025	101	c.106 others(118): Show c.1060+125_1060+126insACCCGCCACACCCCTCCCCTCCCCCCCA CCCCCCCCCACCCCACCCACACCCCTCCCCGCCCCCCCACACCCCTCCCC GCCCCCCACACCCCTCCCCACCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816140	G G	GCCACACC others(94): Show GCCACACCCCTCCCCACCCACCCGCCACACCCCTCCCCTCCCCCCCACCT CCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCCACC CC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	400	0.0025	101	c.106 others(118): Show c.1060+125_1060+126insACCCGCCACACCCCTCCCCTCCCCCCCA CCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCC ACCCCCCACACCCCTCCCCACCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816140	G G	GCCACACC others(94): Show GCCACACCCCTCCCCACCCACCCGCCACACCCCTCCCCTCCCCCCCACCT CCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCCGCC CC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(213): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19059.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0014 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0007t0001 a0001c0014t0001 a0002c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(107): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0190 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0002g0005 a0001c0001t0002g0053 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0003g0085 a0001c0001t0005g0159 a0001c0002t0001g0006 a0001c0002t0001g0019 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0041 a0001c0002t0001g0044 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0195 a0001c0002t0001g0201 a0001c0002t0001g0216 a0001c0002t0001g0218 a0001c0002t0001g0227 a0001c0002t0001g0231 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0244 a0001c0002t0001g0249 a0001c0002t0001g0257 a0001c0002t0004g0191 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0007t0001g0108 a0001c0014t0001g0003 a0002c0011t0001g0077	216	400	0.5400	101	c.106 others(118): Show c.1060+125_1060+126insACCCGCCACACCCCTCCCCTCCCCCCCA CCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCC GCCCCCCACACCCCTCCCCACCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816140	G G	GTCACACC others(94): Show GTCACACCCCTCCCCACCCACCCGCCACACCCCTCCCCTCCCCCCCACCT CCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCCGCC CC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0260	1	400	0.0025	101	c.106 others(118): Show c.1060+107_1060+108insTCACACCCCTCCCCACCCACCCGCCACA CCCCTCCCCTCCCCCCCACCTCCCCCTGCCCCACCCACACCCCTCCCTGC CCCCCCACACCCCTCCCCGCCCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18			chr6	TogoVar
PNMA5_chrX_152983824_152999116	152998672	A A	AAATATAT others(94): Show AAATATATATTATATATATTATATTATATAAATAATATATATTATATATT ATATATTATATATAATATATAATATATATTATTTATATAATATAATATAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	286	0.0035	101	c.-49 others(112): Show c.-4970_-4969insATATATATTATATTATATAAATAATATATATTAT ATATTATATATAATATATAATATATAATATATATTATTTATATAATATAA TATATATAATATATATT	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4557		chrX	TogoVar
PNPLA1_chr6_36265060_36318955	36275964	C C	CTTTCTTT others(94): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0044 a0004c0008t0001g0044	1	386	0.0026	101	c.205 others(118): Show c.205+5311_205+5312insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTCTTTCTTT	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar

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