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
PLVAP_chr19_17346455_17382342	17382276	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 NA18962.hp1 NA18981.hp2 others(1): Show HG03654.hp2 NA18962.hp1 NA18981.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0264 a0001c0001t0001g0273 a0001c0001t0002g0025 others(1): Show a0001c0001t0001g0264 a0001c0001t0001g0273 a0001c0001t0002g0025 a0001c0001t0003g0278	4	436	0.0092	26	c.-49 others(37): Show c.-4989_-4988insCTTTCTTTCTTTCTTTCTTTCTTTCT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4935		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382280	A A	AAAAAAGA others(19): Show AAAAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	436	0.0023	26	c.-49 others(37): Show c.-4993_-4992insCTTTCTTTCTTTCTTTCTTTCTTTTT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4939		chr19	TogoVar
PLXDC1_chr17_39058313_39156637	39128087	C C	CTATGTAT others(19): Show CTATGTATATATATATATATATACATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0200 a0001c0002t0026g0200	1	320	0.0031	26	c.255 others(45): Show c.255+11566_255+11567insTATGTATATATATATATATATACATA	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC1_chr17_39058313_39156637	39128087	C C	CTATGTAT others(19): Show CTATGTATATATATATATATATATACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00621.hp2 others(34): Show HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00735.hp1 HG00738.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01255.hp2 HG01358.hp1 HG01496.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG02040.hp2 HG02523.hp2 HG02818.hp2 HG03579.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp2 NA18747.hp1 NA18942.hp2 NA18945.hp2 NA18956.hp1 NA18970.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp2 NA19000.hp1 NA19067.hp1 NA19088.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 a0001c0002t0002 a0001c0002t0005 a0001c0002t0020 a0001c0002t0023 a0001c0002t0036 a0001c0011t0002 a0002c0003t0006 a0002c0003t0008 a0002c0003t0039 a0002c0003t0046	a0001c0001t0001g0167 a0001c0001t0001g0227 a0001c0001t0003g0171 others(34): Show a0001c0001t0001g0167 a0001c0001t0001g0227 a0001c0001t0003g0171 a0001c0001t0003g0182 a0001c0001t0003g0208 a0001c0001t0010g0179 a0001c0001t0014g0209 a0001c0002t0002g0152 a0001c0002t0002g0174 a0001c0002t0002g0178 a0001c0002t0002g0180 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0213 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0231 a0001c0002t0005g0214 a0001c0002t0005g0216 a0001c0002t0005g0218 a0001c0002t0005g0219 a0001c0002t0020g0225 a0001c0002t0020g0226 a0001c0002t0020g0228 a0001c0002t0023g0305 a0001c0002t0036g0128 a0001c0011t0002g0172 a0002c0003t0006g0108 a0002c0003t0008g0105 a0002c0003t0008g0109 a0002c0003t0008g0110 a0002c0003t0008g0114 a0002c0003t0039g0106 a0002c0003t0046g0020	37	320	0.1156	26	c.255 others(45): Show c.255+11566_255+11567insTGTATATATATATATATATATACATA	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC1_chr17_39058313_39156637	39128087	C C	CTATGTGT others(19): Show CTATGTGTATATATATATATATATACA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01256.hp1 HG01257.hp2 others(1): Show HG01175.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0211 others(1): Show a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0211 a0001c0002t0002g0212	4	320	0.0125	26	c.255 others(45): Show c.255+11566_255+11567insTGTATATATATATATATATACACATA	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC1_chr17_39058313_39156637	39128117	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0255 a0001c0001t0003g0260 a0001c0001t0003g0261	3	320	0.0094	26	c.255 others(45): Show c.255+11536_255+11537insCATATATATATATATATATATATATA	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC1_chr17_39058313_39156637	39128117	A A	ATATATAT others(19): Show ATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	320	0.0031	26	c.255 others(45): Show c.255+11536_255+11537insCATACATATATATATATATATATATA	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC2_chr10_19811432_20294856	19883884	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp2 HG02886.hp1 HG02280.hp1 HG02630.hp2 HG02886.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0030 a0002c0002t0006 a0001c0001t0001 a0001c0001t0030 a0002c0002t0006	a0001c0001t0001g0152 a0001c0001t0030g0001 a0002c0002t0006g0151 a0001c0001t0001g0152 a0001c0001t0030g0001 a0002c0002t0006g0151	3	180	0.0167	26	c.112 others(45): Show c.112+66695_112+66720dupTTTTTTTTTTTTTTTTTTTTTTTTTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20126332	C C	CGTTATAT others(19): Show CGTTATATAATACATATATACATATGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp2 HG02970.hp2 others(1): Show HG02723.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0004 a0005c0006 a0001c0001 a0004c0004 a0005c0006	a0001c0001t0038 a0001c0001t0055 a0004c0004t0039 others(1): Show a0001c0001t0038 a0001c0001t0055 a0004c0004t0039 a0005c0006t0065	a0001c0001t0038g0153 a0001c0001t0055g0024 a0004c0004t0039g0134 others(1): Show a0001c0001t0038g0153 a0001c0001t0055g0024 a0004c0004t0039g0134 a0005c0006t0065g0010	4	180	0.0222	26	c.542 others(45): Show c.542-16918_542-16893dupACATATGTGTTATATAATACATATAT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20126689	A A	AACACACG others(19): Show AACACACGTTATATATGTATATAGAAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0063 a0002c0002t0063	a0002c0002t0063g0165 a0002c0002t0063g0165	1	180	0.0056	26	c.542 others(45): Show c.542-16584_542-16583insGAACACACACGTTATATATGTATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20126742	A A	ACACACGT others(19): Show ACACACGTTATATATGTATATAGAACG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0128 a0001c0001t0004g0128	1	180	0.0056	26	c.542 others(45): Show c.542-16528_542-16527insGCACACGTTATATATGTATATAGAAC	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20238668	T T	TATATGTA others(19): Show TATATGTATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0046 a0001c0001t0123g0046	1	180	0.0056	26	c.131 others(45): Show c.1313-6673_1313-6672insGTATATATATATATATACACACATAT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20284330	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0169 a0001c0001t0069g0169	1	180	0.0056	26	c.45 others(37): Show c.4512_*4513insTATATATATATATATATATATATACA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	14/14	4513	INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA2_chr1_208017242_208249384	208209983	A A	AATTTTTT others(19): Show AATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00558.hp2 others(5): Show HG00408.hp2 HG00558.hp1 HG00558.hp2 HG02280.hp1 HG02280.hp2 HG03834.hp2 NA19058.hp2 NA19074.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0007c0038	a0001c0001t0005 a0001c0001t0006 a0001c0001t0021 others(5): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0021 a0001c0001t0027 a0001c0004t0031 a0001c0004t0045 a0002c0003t0105 a0007c0038t0022	a0001c0001t0005g0102 a0001c0001t0006g0099 a0001c0001t0021g0260 others(5): Show a0001c0001t0005g0102 a0001c0001t0006g0099 a0001c0001t0021g0260 a0001c0001t0027g0103 a0001c0004t0031g0249 a0001c0004t0045g0235 a0002c0003t0105g0298 a0007c0038t0022g0292	8	312	0.0256	26	c.137 others(43): Show c.1371+296_1371+297insAAAAAAAAAAAAAAAAAAAAAAAAAT	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132365360	T T	TGTGTGTG others(19): Show TGTGTGTGTGCGCGCGCGCGTGCGTGC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0041 a0001c0004t0001g0041	1	88	0.0114	26	c.137 others(47): Show c.1372-67139_1372-67138insGCACGCACGCGCGCGCGCACACAC AC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	3/31			chr7	TogoVar
PLXNC1_chr12_94143577_94312675	94177163	A A	ATATATAT others(19): Show ATATATATATATATACGTATATATATG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19010.hp2 NA19070.hp2 NA18981.hp2 NA19010.hp2 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150	3	298	0.0101	26	c.120 others(45): Show c.1204-4271_1204-4270insTACGTATATATATGTATATATATATA	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLXNC1_chr12_94143577_94312675	94274155	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19030.hp2 HG02922.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0021 a0001c0009 a0002c0021	a0001c0009t0003 a0002c0021t0002 a0001c0009t0003 a0002c0021t0002	a0001c0009t0003g0237 a0002c0021t0002g0015 a0001c0009t0003g0237 a0002c0021t0002g0015	2	298	0.0067	26	c.359 others(45): Show c.3598-5310_3598-5285dupAAAAAAAAAAAAAAAAAAAAAAAAAA	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLXND1_chr3_129550214_129611676	129581990	G G	GGAGCAGG others(19): Show GGAGCAGGAGTCCTAGTGGGGTCCCAA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0211 a0002c0003t0003g0211	1	416	0.0024	26	c.224 others(45): Show c.2241+1551_2241+1576dupTTGGGACCCCACTAGGACTCCTGCTC	PLXND1	ENSG00000004399.13	transcript	ENST00000324093.9	protein_coding	8/35			chr3	TogoVar
PLXND1_chr3_129550214_129611676	129595921	G G	GCGCGCAC others(19): Show GCGCGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0109 a0001c0002t0002g0109	1	416	0.0024	26	c.131 others(45): Show c.1312-6395_1312-6394insTGTGTGTGTGTGTGTGTGTGTGCGCG	PLXND1	ENSG00000004399.13	transcript	ENST00000324093.9	protein_coding	1/35			chr3	TogoVar
PM20D1_chr1_205823025_205855132	205853432	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0002 a0016c0025t0002	a0016c0025t0002g0050 a0016c0025t0002g0050	1	416	0.0024	26	c.-33 others(37): Show c.-3361_-3360insATATATATATATATATATATATATAT	PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding		3301		chr1	TogoVar
PM20D1_chr1_205823025_205855132	205853436	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01070.hp2 others(12): Show HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01123.hp1 HG01175.hp1 HG01496.hp1 HG01981.hp2 HG02602.hp1 HG02647.hp1 HG02970.hp2 HG03669.hp2 HG06807.hp1 NA19005.hp2 NA19058.hp1	a0002 a0004 a0009 others(2): Show a0002 a0004 a0009 a0027 a0028	a0002c0001 a0004c0005 a0009c0011 others(2): Show a0002c0001 a0004c0005 a0009c0011 a0027c0037 a0028c0036	a0002c0001t0001 a0002c0001t0002 a0004c0005t0002 others(3): Show a0002c0001t0001 a0002c0001t0002 a0004c0005t0002 a0009c0011t0001 a0027c0037t0002 a0028c0036t0002	a0002c0001t0001g0156 a0002c0001t0002g0001 a0002c0001t0002g0175 others(9): Show a0002c0001t0001g0156 a0002c0001t0002g0001 a0002c0001t0002g0175 a0004c0005t0002g0005 a0004c0005t0002g0031 a0004c0005t0002g0117 a0004c0005t0002g0160 a0004c0005t0002g0171 a0009c0011t0001g0188 a0009c0011t0001g0189 a0027c0037t0002g0162 a0028c0036t0002g0153	15	416	0.0361	26	c.-33 others(37): Show c.-3365_-3364insATATATATATATATATATATATATAT	PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding		3305		chr1	TogoVar
PMM2_chr16_8792839_8854325	8827891	T T	TATATAAT others(19): Show TATATAATATATGTTATATAATATATG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	408	0.0025	26	c.639 others(45): Show c.639+14790_639+14791insATATATGTTATATAATATATGATATA	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
PMM2_chr16_8792839_8854325	8851977	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	408	0.0025	26	c.41 others(37): Show c.4152_*4153insTTTTTTTTTTTTTTTTTTTTTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding		2653		chr16	TogoVar
PMS1_chr2_189779450_189882629	189860839	T T	TTTTTTTT others(19): Show TTTTTTTTTTTTTTTTTTTTTTTTGAG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	234	0.0043	26	c.185 others(45): Show c.1857-2904_1857-2903insTTTTTTTTTTTTTTTTTTTTTTTGAG	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	9/12			chr2	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAATA others(19): Show AAAAAATATACATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0046 a0003c0008t0046	a0003c0008t0046g0343 a0003c0008t0046g0343	1	408	0.0025	26	c.-95 others(35): Show c.-956_-955insATATATATATATATATGTATATTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNKD_chr2_218265519_218351793	218315038	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02027.hp1 HG03471.hp1 others(4): Show HG01243.hp1 HG02027.hp1 HG03471.hp1 NA18941.hp2 NA19011.hp1 NA19070.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0006t0002 a0001c0001t0001 a0001c0001t0003 a0001c0006t0002	a0001c0001t0001g0084 a0001c0001t0003g0080 a0001c0001t0003g0083 others(4): Show a0001c0001t0001g0084 a0001c0001t0003g0080 a0001c0001t0003g0083 a0001c0001t0003g0088 a0001c0001t0003g0122 a0001c0001t0003g0267 a0001c0006t0002g0034	7	280	0.0250	26	c.237 others(45): Show c.237-24744_237-24743insCTTTCTTTCTTTCTTTCTTTCTTTCT	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNMA8A_chr19_46461503_46476563	46475170	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 NA18939.hp2 others(3): Show HG00423.hp2 HG00438.hp1 NA18939.hp2 NA18959.hp1 NA18970.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0001 a0001c0002t0003g0002 a0001c0002t0003g0040 a0001c0001t0002g0001 a0001c0002t0003g0002 a0001c0002t0003g0040	6	454	0.0132	26	c.-39 others(37): Show c.-3914_-3913insTTTTTTTTTTTTTTTTTTTTTTTTTT	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		3608		chr19	TogoVar
PNOC_chr8_28312268_28348351	28330400	T T	TATTTTAT others(19): Show TATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp2 HG03195.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0354 a0001c0001t0003g0322 a0001c0001t0001g0354 a0001c0001t0003g0322	2	424	0.0047	26	c.126 others(43): Show c.126+1117_126+1118insATTTTATTTTATTTTATTTTATTTTA	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3			chr8	TogoVar
PNPLA1_chr6_36265060_36318955	36282088	A A	AGAAAGAA others(19): Show AGAAAGAAAGAAAGAAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0113 a0007c0010t0001g0113	1	386	0.0026	26	c.206 others(43): Show c.206-9229_206-9228insAGAAAGAAAGAAAGAAGAAGAAGGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282088	A A	AGAAAGAA others(19): Show AGAAAGAAAGAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0004 a0006c0016t0004	a0006c0016t0004g0137 a0006c0016t0004g0137	1	386	0.0026	26	c.206 others(43): Show c.206-9229_206-9228insAGAAAGAGAAAGAAAGAAGGAAGGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36300161	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18983.hp2 NA18946.hp2 NA18983.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0008 a0003c0004 a0004c0008	a0003c0004t0001 a0004c0008t0003 a0003c0004t0001 a0004c0008t0003	a0003c0004t0001g0294 a0004c0008t0003g0334 a0003c0004t0001g0294 a0004c0008t0003g0334	2	386	0.0052	26	c.776 others(43): Show c.776-1682_776-1681insTGTGTGTGTGTGTGTGTGTGTGTGTG	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36300178	T T	TGTGTGAG others(19): Show TGTGTGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	386	0.0026	26	c.776 others(43): Show c.776-1682_776-1681insTGTGAGAGAGAGAGAGAGAGAGAGAG	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36300178	T T	TGTGTGTG others(19): Show TGTGTGTGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01106.hp2 HG01243.hp2 others(8): Show HG00609.hp1 HG01106.hp2 HG01243.hp2 HG01975.hp1 HG02074.hp2 HG03239.hp1 HG04204.hp2 NA18951.hp1 NA18971.hp2 NA18984.hp2 NA19080.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0002c0002 a0005c0005 others(2): Show a0001c0001 a0002c0002 a0005c0005 a0007c0010 a0007c0038	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0005c0005t0002 a0007c0010t0001 a0007c0038t0003	a0001c0001t0001g0024 a0001c0001t0002g0047 a0001c0001t0002g0126 others(8): Show a0001c0001t0001g0024 a0001c0001t0002g0047 a0001c0001t0002g0126 a0001c0001t0002g0133 a0001c0001t0002g0179 a0001c0001t0002g0184 a0002c0002t0001g0119 a0002c0002t0001g0149 a0005c0005t0002g0225 a0007c0010t0001g0139 a0007c0038t0003g0314	11	386	0.0285	26	c.776 others(43): Show c.776-1682_776-1681insTGTGTGAGAGAGAGAGAGAGAGAGAG	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA7_chr9_137454952_137555402	137502820	G G	GGCCATTT others(19): Show GGCCATTTTAAGGATTACTGTTAAGTA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	188	0.0053	26	c.147 others(45): Show c.1474-1119_1474-1094dupTACTTAACAGTAATCCTTAAAATGGC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503789	A A	AAAAGAAG others(19): Show AAAAGAAGAGAGAAAGAAGAAAGAAAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	188	0.0053	26	c.147 others(45): Show c.1473+1824_1473+1825insATTTCTTTCTTCTTTCTCTCTTCTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PODXL2_chr3_127624185_127677802	127673149	A A	ACGGGCGG others(19): Show ACGGGCGGCTGGGCGGCCGCGGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	402	0.0025	26	c.66 others(35): Show c.669_*670insCGGGCGGCTGGGCGGCCGCGGAGAGG	PODXL2	ENSG00000114631.11	transcript	ENST00000342480.7	protein_coding		348		chr3	TogoVar
PODXL_chr7_131495271_131561628	131499777	T T	TTGTTTTT others(19): Show TTGTTTTTACATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02071.hp1 HG02896.hp1 HG01081.hp2 HG02071.hp1 HG02896.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0012 a0004c0004 a0005c0005 a0002c0012 a0004c0004 a0005c0005	a0002c0012t0008 a0004c0004t0003 a0005c0005t0003 a0002c0012t0008 a0004c0004t0003 a0005c0005t0003	a0002c0012t0008g0013 a0004c0004t0003g0407 a0005c0005t0003g0328 a0002c0012t0008g0013 a0004c0004t0003g0407 a0005c0005t0003g0328	3	440	0.0068	26	c.45 others(37): Show c.4533_*4534insTATATATATATATATATGTAAAAACA	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		493		chr7	TogoVar
PODXL_chr7_131495271_131561628	131499780	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 NA18975.hp1 HG02896.hp2 NA18975.hp1	a0004 a0009 a0004 a0009	a0004c0004 a0009c0018 a0004c0004 a0009c0018	a0004c0004t0001 a0009c0018t0001 a0004c0004t0001 a0009c0018t0001	a0004c0004t0001g0348 a0009c0018t0001g0032 a0004c0004t0001g0348 a0009c0018t0001g0032	2	440	0.0046	26	c.45 others(37): Show c.4530_*4531insATATATATATATATATATATATATAT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		490		chr7	TogoVar
PODXL_chr7_131495271_131561628	131524379	C C	CACACACA others(19): Show CACACACAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0419 a0004c0004t0003g0419	1	440	0.0023	26	c.101 others(45): Show c.101-12947_101-12946insCTCTCTCTCTCTCTCTCTCTGTGTGT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
PODXL_chr7_131495271_131561628	131524379	C C	CACACAGA others(19): Show CACACAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00609.hp1 others(15): Show HG00408.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG01361.hp2 HG01516.hp2 HG01978.hp2 HG02451.hp2 HG02523.hp1 HG03654.hp2 HG03710.hp2 HG04199.hp1 NA18948.hp2 NA18954.hp1 NA18963.hp2 NA18995.hp2 NA19081.hp1 NA20805.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0002 a0003c0031 others(4): Show a0001c0001 a0003c0002 a0003c0031 a0004c0004 a0004c0023 a0004c0056 a0005c0005	a0001c0001t0001 a0003c0002t0001 a0003c0002t0003 others(8): Show a0001c0001t0001 a0003c0002t0001 a0003c0002t0003 a0003c0002t0008 a0003c0002t0028 a0003c0031t0003 a0004c0004t0001 a0004c0004t0003 a0004c0023t0002 a0004c0056t0001 a0005c0005t0002	a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0001t0001g0147 others(15): Show a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0001t0001g0147 a0001c0001t0001g0154 a0003c0002t0001g0196 a0003c0002t0001g0250 a0003c0002t0001g0271 a0003c0002t0003g0236 a0003c0002t0003g0258 a0003c0002t0008g0020 a0003c0002t0028g0206 a0003c0031t0003g0205 a0004c0004t0001g0362 a0004c0004t0003g0391 a0004c0023t0002g0400 a0004c0023t0002g0406 a0004c0056t0001g0402 a0005c0005t0002g0382	18	440	0.0409	26	c.101 others(45): Show c.101-12947_101-12946insCTCTCTCTCTCTCTCTCTCTCTGTGT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
PODXL_chr7_131495271_131561628	131524379	C C	CACAGAGA others(19): Show CACAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01106.hp2 HG01496.hp2 others(10): Show HG01069.hp2 HG01106.hp2 HG01496.hp2 HG02738.hp2 HG03017.hp1 HG04199.hp2 NA18951.hp2 NA18967.hp1 NA18968.hp2 NA18975.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0002c0003 a0002c0012 others(4): Show a0001c0001 a0002c0003 a0002c0012 a0003c0002 a0005c0006 a0006c0007 a0006c0011	a0001c0001t0003 a0002c0003t0002 a0002c0012t0001 others(4): Show a0001c0001t0003 a0002c0003t0002 a0002c0012t0001 a0003c0002t0003 a0005c0006t0002 a0006c0007t0002 a0006c0011t0003	a0001c0001t0003g0156 a0002c0003t0002g0189 a0002c0003t0002g0191 others(10): Show a0001c0001t0003g0156 a0002c0003t0002g0189 a0002c0003t0002g0191 a0002c0003t0002g0222 a0002c0003t0002g0248 a0002c0003t0002g0256 a0002c0003t0002g0274 a0002c0012t0001g0257 a0002c0012t0001g0260 a0003c0002t0003g0216 a0005c0006t0002g0354 a0006c0007t0002g0099 a0006c0011t0003g0105	13	440	0.0296	26	c.101 others(45): Show c.101-12947_101-12946insCTCTCTCTCTCTCTCTCTCTCTCTGT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
PODXL_chr7_131495271_131561628	131524379	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA20905.hp1 HG01168.hp2 NA20905.hp1	a0003 a0006 a0003 a0006	a0003c0002 a0006c0011 a0003c0002 a0006c0011	a0003c0002t0001 a0006c0011t0002 a0003c0002t0001 a0006c0011t0002	a0003c0002t0001g0254 a0006c0011t0002g0072 a0003c0002t0001g0254 a0006c0011t0002g0072	2	440	0.0046	26	c.101 others(45): Show c.101-12972_101-12947dupCTCTCTCTCTCTCTCTCTCTCTCTCT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
PODXL_chr7_131495271_131561628	131558478	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG03139.hp2 HG01884.hp2 HG02486.hp2 HG03139.hp2	a0005 a0011 a0017 a0005 a0011 a0017	a0005c0019 a0011c0027 a0017c0028 a0005c0019 a0011c0027 a0017c0028	a0005c0019t0006 a0011c0027t0007 a0017c0028t0009 a0005c0019t0006 a0011c0027t0007 a0017c0028t0009	a0005c0019t0006g0055 a0011c0027t0007g0053 a0017c0028t0009g0048 a0005c0019t0006g0055 a0011c0027t0007g0053 a0017c0028t0009g0048	3	440	0.0068	26	c.-21 others(37): Show c.-2120_-2119insAAAAAAAATATATATATATATATATA	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		1851		chr7	TogoVar
PODXL_chr7_131495271_131561628	131558478	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0007 a0011c0027t0007	a0011c0027t0007g0047 a0011c0027t0007g0047	1	440	0.0023	26	c.-21 others(37): Show c.-2120_-2119insAAAAAAAAAATATATATATATATATA	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		1851		chr7	TogoVar
POGLUT1_chr3_119463963_119499708	119468586	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	422	0.0024	26	c.-43 others(35): Show c.-436_-435insACACACACACACACACACACACACAC	POGLUT1	ENSG00000163389.12	transcript	ENST00000295588.9	protein_coding		376		chr3	TogoVar
POLA1_chrX_24688918_25001986	24801916	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	197	0.0051	26	c.296 others(45): Show c.2965-7979_2965-7978insTGTGTGTGTGTGTGTGTGTGTGTGTG	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLA1_chrX_24688918_25001986	24801920	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18943.hp1 HG00544.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0083 a0001c0001t0001g0043 a0001c0001t0001g0083	2	197	0.0102	26	c.296 others(45): Show c.2965-7975_2965-7974insTGTGTGTGTGTGTGTGTGTGTGTGTG	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLA1_chrX_24688918_25001986	24801924	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	197	0.0051	26	c.296 others(45): Show c.2965-7952_2965-7927dupTGTGTGTGTGTGTGTGTGTGTGTGTG	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLD1_chr19_50379347_50423014	50400211	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03486.hp2 HG02818.hp1 HG03486.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0039 a0003c0012t0001g0043 a0003c0012t0001g0039 a0003c0012t0001g0043	2	336	0.0060	26	c.316 others(41): Show c.316+728_316+753dupTTTTTTTTTTTTTTTTTTTTTTTTTT	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
POLD3_chr11_74587582_74648076	74609345	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	400	0.0025	26	c.220 others(43): Show c.220-2151_220-2126dupATATATATATATATATATATATATAT	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar

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