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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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
PERM1_chr1_970198_987093	977719	C C	CCACTCCC others(26): Show CCACTCCCCGCGCAACCCCGGGAACCACCTCCCA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG01975.hp2 others(11): Show HG00597.hp2 HG00673.hp1 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 NA18747.hp2 NA18943.hp1 NA18966.hp1 NA19004.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0173 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0007t0001g0093	14	408	0.0343	33	c.215 others(52): Show c.2150-1096_2150-1095insTGGGAGGTGGTTCCCGGGGTTGCGCG GGGAGTG		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PERM1_chr1_970198_987093	977719	C C	CCACTCCC others(26): Show CCACTCCCCGCGCAACCCCGGGAACCGCCTCCCA	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18943.hp2 NA18974.hp2 HG03688.hp1 NA18943.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0127 a0001c0001t0001g0181 a0001c0001t0006g0044 a0001c0001t0001g0127 a0001c0001t0001g0181 a0001c0001t0006g0044	3	408	0.0074	33	c.215 others(52): Show c.2150-1096_2150-1095insTGGGAGGCGGTTCCCGGGGTTGCGCG GGGAGTG		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(26): Show CTTTATTTATTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	408	0.0025	33	c.-26 others(44): Show c.-2692_-2691insAGAAAGAAAGAAAGAAAGAAAGAAATAAATAAA		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding					2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(26): Show CTTTATTTCTTTCTTTCTTTATTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	408	0.0025	33	c.-26 others(44): Show c.-2692_-2691insATAAATAAATAAATAAAGAAAGAAAGAAATAAA		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding					2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(26): Show CTTTATTTCTTTCTTTCTTTCTTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 NA20905.hp2 HG02027.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	408	0.0049	33	c.-26 others(44): Show c.-2692_-2691insATAAATAAATAAAGAAAGAAAGAAAGAAATAAA		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding					2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(26): Show CTTTATTTCTTTCTTTCTTTCTTTCTTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01168.hp2 HG00609.hp1 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0126 a0001c0001t0003g0001 a0001c0001t0001g0126 a0001c0001t0003g0001	2	408	0.0049	33	c.-26 others(44): Show c.-2692_-2691insATAAATAAAGAAAGAAAGAAAGAAAGAAATAAA		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding					2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(26): Show CTTTATTTCTTTCTTTCTTTCTTTCTTTCTTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	408	0.0025	33	c.-26 others(44): Show c.-2692_-2691insATAAAGAAAGAAAGAAAGAAAGAAAGAAATAAA		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding					2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(26): Show CTTTATTTCTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 NA18612.hp1 NA18944.hp2 others(4): Show HG00423.hp2 NA18612.hp1 NA18944.hp2 NA18979.hp2 NA19068.hp2 NA19090.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0002 a0001c0001t0001g0041 a0001c0001t0001g0159 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0041 a0001c0001t0001g0159 a0001c0001t0003g0001 a0001c0001t0003g0107 a0001c0001t0010g0147	7	408	0.0172	33	c.-26 others(44): Show c.-2692_-2691insAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAAA		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding					2519		chr1	TogoVar
PERP_chr6_138083505_138112419	138086310	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	430	0.0023	33	c.57 others(44): Show c.5731_*5732insATATATATATATATATATATATATATATATATT		PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding					2194		chr6	TogoVar
PFKP_chr10_3062548_3141802	3106724	T T	TGCCCCCT others(26): Show TGCCCCCTGCCCCTTCACACCTGCCCCTCTCCTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0108 a0001c0002t0003g0140 a0001c0002t0003g0108 a0001c0002t0003g0140	2	402	0.0050	33	c.775 others(48): Show c.775-485_775-484insCTGCCCCTTCACACCTGCCCCTCTCCTCGC CCC		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0172 a0001c0003t0005g0172	1	376	0.0027	33	c.-35 others(44): Show c.-3543_-3542insATATATATATATTTTTTTTTTTTTTTTTTTTTT		PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding					3500		chr17	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	376	0.0027	33	c.-35 others(44): Show c.-3543_-3542insATATATATATATATATTTTTTTTTTTTTTTTTT		PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding					3500		chr17	TogoVar
PGLYRP3_chr1_153292116_153317952	153297526	G G	GGAAAGAA others(26): Show GGAAAGAAAGAAAAAGAAAGAAGAAAGAAAGAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0106 a0002c0002t0106	a0002c0002t0106g0138 a0002c0002t0106g0138	1	434	0.0023	33	c.42 others(42): Show c.429_*430insTTTCTTTCTTTCTTCTTTCTTTTTCTTTCTTTC		PGLYRP3	ENSG00000159527.4	transcript	ENST00000683862.1	protein_coding	8/8				429		chr1	TogoVar
PGM2L1_chr11_74325316_74403433	74383824	A A	AATAAATA others(26): Show AATAAATAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0265 a0002c0002t0004g0265	1	380	0.0026	33	c.112 others(50): Show c.112-9243_112-9242insATATATATATATATATATATATATATTA TTTAT		PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	1/13						chr11	TogoVar
PGPEP1_chr19_18335598_18374950	18364096	C C	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0129 a0001c0001t0129	a0001c0001t0129g0239 a0001c0001t0129g0239	1	412	0.0024	33	c.52 others(42): Show c.528_*529insTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTT		PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5				529	INFO_REALIGN_3_PRIME	chr19	TogoVar
PHACTR1_chr6_12711767_13292837	12830129	G G	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02922.hp1 NA21309.hp2 HG01261.hp1 HG02922.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0090 a0001c0001t0002g0015 a0001c0001t0002g0091 a0001c0001t0001g0090 a0001c0001t0002g0015 a0001c0001t0002g0091	3	108	0.0278	33	c.250 others(52): Show c.250+80368_250+80369insAAGAAAAGAAAGAAAGAAAGAAAGAA AGAAAGA		PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	12966164	G G	GTGCAGCA others(26): Show GTGCAGCATTGACACATAGTCTGAGGGGTCCTCA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	108	0.0093	33	c.251 others(52): Show c.251-87201_251-87200insTGCAGCATTGACACATAGTCTGAGGG GTCCTCA		PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14						chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59635149	T T	TTCTTTCT others(26): Show TTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	250	0.0040	33	c.118 others(52): Show c.118+30018_118+30019insCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCCT		PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59635149	T T	TTCTTTCT others(26): Show TTCTTTCTTTCTTTTTCTTTCTTTCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18906.hp2 NA18986.hp2 HG02165.hp1 NA18906.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0202 a0001c0001t0001g0216 a0001c0001t0005g0219 a0001c0001t0001g0202 a0001c0001t0001g0216 a0001c0001t0005g0219	3	250	0.0120	33	c.118 others(52): Show c.118+30018_118+30019insCTTTCTTTCTTTTTCTTTCTTTCTTT CCTTTCT		PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59635149	T T	TTCTTTCT others(26): Show TTCTTTCTTTCTTTTTCTTTCTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18995.hp2 NA18942.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0190 a0001c0001t0001g0196	2	250	0.0080	33	c.118 others(52): Show c.118+30018_118+30019insCTTTCTTTCTTTTTCTTTCTTTCTTT TCTTTCT		PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59635149	T T	TTCTTTCT others(26): Show TTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	250	0.0040	33	c.118 others(52): Show c.118+30018_118+30019insCTTTCTTTTTCTTTCTTTCTTTCTTT CTTTCCT		PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59635149	T T	TTCTTTTT others(26): Show TTCTTTTTCTTTCTTTCTTTCTTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0208 a0001c0001t0014g0208	1	250	0.0040	33	c.118 others(52): Show c.118+30018_118+30019insCTTTTTCTTTCTTTCTTTCTTTCCTT TCTTTCT		PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59674362	T T	TCCCCTTC others(26): Show TCCCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0020 a0001c0001t0010g0020	1	250	0.0040	33	c.119 others(52): Show c.119-68714_119-68713insCCCCCCTTCTCCTGTTCCTTCCCCTT CTCCTGT		PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59674364	C C	CCCTTCTC others(26): Show CCCTTCTCCCGTTCCTTCCCCTTCTCCTGTTCCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0114 a0001c0001t0007g0114	1	250	0.0040	33	c.119 others(52): Show c.119-68735_119-68734insCGTTCCTTCCCCTTCTCCTGTTCCTC CTTCTCC		PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59674397	T T	TCCTTCTC others(26): Show TCCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00558.hp2 others(16): Show HG00408.hp1 HG00544.hp2 HG00558.hp2 HG01167.hp2 HG01433.hp1 HG01981.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG04199.hp1 HG04228.hp2 NA18939.hp1 NA18939.hp2 NA18954.hp1 NA18986.hp1 NA18993.hp1 NA18994.hp2 NA19064.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0021 a0001c0001t0022	a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0027 others(16): Show a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0166 a0001c0001t0001g0187 a0001c0001t0001g0223 a0001c0001t0002g0071 a0001c0001t0002g0157 a0001c0001t0002g0229 a0001c0001t0002g0237 a0001c0001t0003g0010 a0001c0001t0005g0030 a0001c0001t0008g0158 a0001c0001t0021g0143 a0001c0001t0022g0049	19	250	0.0760	33	c.119 others(52): Show c.119-68678_119-68646dupCCCCTTCTCCTGTTCCTTCCCCTTCT CCTGTCC		PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59674431	C C	CCTTCTCC others(26): Show CCTTCTCCTGTTCCTTCCCCTTCTCCTGTCCTCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01168.hp2 HG02735.hp2 HG01081.hp2 HG01168.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0019 a0001c0001t0005g0056 a0001c0001t0005g0061 a0001c0001t0001g0019 a0001c0001t0005g0056 a0001c0001t0005g0061	3	250	0.0120	33	c.119 others(52): Show c.119-68662_119-68630dupTTCCCCTTCTCCTGTCCTCTCTTCTC CTGTTCC		PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59674442	T T	TCCTTCCC others(26): Show TCCTTCCCCTTCTCCTGTCCCCCCTTCTCCTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19240.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0048 a0001c0001t0009g0159 a0001c0001t0003g0048 a0001c0001t0009g0159	2	250	0.0080	33	c.119 others(52): Show c.119-68646_119-68645insCCCCTTCTCCTGTGCCTTCCCCTTCT CCTGTCC		PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
PHC3_chr3_170082584_170186733	170126528	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0028 a0001c0001t0010g0028	1	332	0.0030	33	c.178 others(52): Show c.1788+2155_1788+2156insAAAAAAATATATATATATATATATAT ATATATA		PHC3	ENSG00000173889.16	transcript	ENST00000495893.7	protein_coding	8/14						chr3	TogoVar
PHEX_chrX_22027325_22256310	22209709	T T	TTCCCTCT others(26): Show TTCCCTCTGCTCCCTCTCCCTCTCTTCCCTCTGC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0106 a0001c0001t0086g0106	1	231	0.0043	33	c.164 others(52): Show c.1646-3179_1646-3178insCCCTCTCTTCCCTCTGCTCCCTCTGC TCCCTCT		PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	15/21					INFO_REALIGN_3_PRIME	chrX	TogoVar
PHEX_chrX_22027325_22256310	22249455	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0137 a0001c0001t0137	a0001c0001t0137g0003 a0001c0001t0137g0003	1	231	0.0043	33	c.15 others(44): Show c.1503_*1504insAAATATATATATATATATATATATATATATATA		PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	22/22				1504	INFO_REALIGN_3_PRIME	chrX	TogoVar
PHF12_chr17_28900250_28956518	28923653	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	232	0.0043	33	c.715 others(48): Show c.715+255_715+256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		PHF12	ENSG00000109118.14	transcript	ENST00000332830.9	protein_coding	4/14						chr17	TogoVar
PHF14_chr7_10968872_11174618	10985636	C C	CCGGTTTT others(26): Show CCGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	298	0.0034	33	c.900 others(50): Show c.900+2477_900+2478insCGGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	3/17						chr7	TogoVar
PHF19_chr9_120850651_120882188	120855392	T T	TTTCTAAG others(26): Show TTTCTAAGTTCATTTTCCATCTTTTACCTCTCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02970.hp1 HG03041.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	3	408	0.0074	33	c.25 others(44): Show c.2551_*2552insCTGAGAGGTAAAAGATGGAAAATGAACTTAGAA		PHF19	ENSG00000119403.15	transcript	ENST00000373896.8	protein_coding					258		chr9	TogoVar
PHF23_chr17_7230038_7244457	7233087	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	394	0.0025	33	c.25 others(44): Show c.2538_*2539insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		PHF23	ENSG00000040633.13	transcript	ENST00000320316.8	protein_coding					1950		chr17	TogoVar
PHGR1_chr15_40346033_40361434	40356131	G G	GCCATGGC others(26): Show GCCATGGCCCAGGGCCCTGCGGGCCACCCCCCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00423.hp2 HG00544.hp2 HG00733.hp2 others(76): Show HG00423.hp2 HG00544.hp2 HG00733.hp2 HG00741.hp1 HG01496.hp1 HG01891.hp2 HG02055.hp2 HG02132.hp1 HG02148.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18984.hp2 NA18992.hp2 NA18999.hp1 NA19002.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19068.hp1 NA19079.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0008 others(22): Show a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0002t0001g0020 a0002c0002t0001g0033 a0002c0002t0001g0049 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0072 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104	79	436	0.1812	33	c.84_ others(39): Show c.84_116dupCCCAGGGCCCTGCGGGCCACCCCCCCACCATGG	p.Gly others(44): Show p.Gly39_Pro40insProGlyProCysGlyProProProHisHisGly	PHGR1	ENSG00000233041.8	transcript	ENST00000448599.2	protein_coding	4/4	173/436	117/249	39/82		INFO_REALIGN_3_PRIME	chr15	TogoVar
PHGR1_chr15_40346033_40361434	40356138	C C	CCCAGGGC others(26): Show CCCAGGGCCCTGCGGGCCACCCCCCCACCATGGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18949.hp1 NA18970.hp2 NA18990.hp2 others(3): Show NA18949.hp1 NA18970.hp2 NA18990.hp2 NA18999.hp2 NA19054.hp1 NA19088.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0004 a0002c0005t0001g0011 a0002c0005t0001g0098 a0002c0005t0001g0004 a0002c0005t0001g0011 a0002c0005t0001g0098	6	436	0.0138	33	c.108 others(40): Show c.108_140dupCCACCATGGTCCAGGGCCCTGCGGGCCACCCCC	p.Pro others(44): Show p.Pro47_Gly48insHisHisGlyProGlyProCysGlyProProPro	PHGR1	ENSG00000233041.8	transcript	ENST00000448599.2	protein_coding	4/4	197/436	141/249	47/82		INFO_REALIGN_3_PRIME	chr15	TogoVar
PHKB_chr16_47456331_47706523	47616482	T T	TAATATAT others(26): Show TAATATATATTTTATATATTTATATGTAAATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01255.hp2 HG00735.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0067 a0001c0001t0005g0068	2	98	0.0204	33	c.145 others(52): Show c.1458+5574_1458+5606dupTATATATTTATATGTAAATATAAATA TATATTT		PHKB	ENSG00000102893.18	transcript	ENST00000323584.10	protein_coding	14/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
PHLDB2_chr3_111854265_111981517	111866014	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp2 NA19058.hp2 HG02148.hp1 HG02148.hp2 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0026 a0002c0002t0001 a0001c0003t0026 a0002c0002t0001	a0001c0003t0026g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0001c0003t0026g0201 a0002c0002t0001g0202 a0002c0002t0001g0203	3	286	0.0105	33	c.-15 others(50): Show c.-15+6462_-15+6463insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		PHLDB2	ENSG00000144824.21	transcript	ENST00000431670.7	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
PHLDB3_chr19_43470103_43509746	43487591	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	396	0.0025	33	c.115 others(50): Show c.1150-469_1150-468insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		PHLDB3	ENSG00000176531.11	transcript	ENST00000292140.10	protein_coding	9/15						chr19	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0142	1	192	0.0052	33	c.157 others(54): Show c.1576+48818_1576+48819insAAATATATATATATATATATATAT ATATATATA		PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849832	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA20752.hp1 HG02257.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0086 a0001c0001t0007g0093 a0001c0001t0001g0086 a0001c0001t0007g0093	2	192	0.0104	33	c.190 others(54): Show c.1900-10603_1900-10602insTATATATATATATATATATATATA TATATATAT		PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16						chr18	TogoVar
PHYKPL_chr5_178203471_178237802	178203504	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	440	0.0023	33	c.54 others(44): Show c.5442_*5443insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		PHYKPL	ENSG00000175309.15	transcript	ENST00000308158.10	protein_coding					4966		chr5	TogoVar
PHYKPL_chr5_178203471_178237802	178232851	A A	AGGCCCCG others(26): Show AGGCCCCGCCCCGCAGGCCCCGCCCCGCAGGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0261 a0002c0003t0003g0261	1	440	0.0023	33	c.-30 others(42): Show c.-302_-301insGGGCCTGCGGGGCGGGGCCTGCGGGGCGGGGCC		PHYKPL	ENSG00000175309.15	transcript	ENST00000308158.10	protein_coding					50		chr5	TogoVar
PIAS1_chr15_68049315_68198847	68179564	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18983.hp2 HG01934.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0028 a0001c0001t0003 a0001c0001t0028	a0001c0001t0003g0124 a0001c0001t0028g0015 a0001c0001t0003g0124 a0001c0001t0028g0015	2	260	0.0077	33	c.148 others(52): Show c.1482-1620_1482-1619insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01943.hp1 HG02155.hp1 HG02559.hp1 others(2): Show HG01943.hp1 HG02155.hp1 HG02559.hp1 HG03453.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0114 a0001c0001t0178 others(2): Show a0001c0001t0080 a0001c0001t0114 a0001c0001t0178 a0001c0001t0179 a0001c0001t0180	a0001c0001t0080g0286 a0001c0001t0114g0236 a0001c0001t0178g0055 others(2): Show a0001c0001t0080g0286 a0001c0001t0114g0236 a0001c0001t0178g0055 a0001c0001t0179g0024 a0001c0001t0180g0007	5	322	0.0155	33	c.50 others(44): Show c.5049_*5050insAAAAAAATATATATATATATATATATATATATA		PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14				5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807384	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0299 a0001c0001t0091g0299	1	322	0.0031	33	c.50 others(44): Show c.5048_*5049insTATATATATATATATATATATATATATATATAT		PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14				5048		chr18	TogoVar
PIBF1_chr13_72777133_73021461	72844748	C C	CACACACA others(26): Show CACACACACACACACGGATGAAGTCTTACTGTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18973.hp2 NA19074.hp1 HG00438.hp2 NA18973.hp2 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0033 a0002c0002t0003g0064 a0002c0002t0003g0066 a0002c0002t0003g0033 a0002c0002t0003g0064 a0002c0002t0003g0066	3	346	0.0087	33	c.122 others(52): Show c.1224-9295_1224-9294insGGATGAAGTCTTACTGTTTACACACA CACACAC		PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72844750	C C	CACACACA others(26): Show CACACACACACACACGGATGAAGTCTTACTGTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp2 HG02129.hp1 others(8): Show HG00280.hp2 HG00673.hp2 HG02129.hp1 HG03669.hp2 HG03927.hp1 NA18612.hp2 NA18975.hp1 NA18989.hp2 NA19011.hp2 NA19057.hp1 NA19079.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0003 a0004c0004t0003 a0002c0002t0003 a0004c0004t0003	a0002c0002t0003g0027 a0002c0002t0003g0039 a0002c0002t0003g0051 others(8): Show a0002c0002t0003g0027 a0002c0002t0003g0039 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0068 a0002c0002t0003g0071 a0002c0002t0003g0073 a0002c0002t0003g0074 a0002c0002t0003g0078 a0002c0002t0003g0081 a0004c0004t0003g0008	11	346	0.0318	33	c.122 others(52): Show c.1224-9293_1224-9292insGGATGAAGTCTTACTGTTTACACACA CACACAC		PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72844752	C C	CACACACA others(26): Show CACACACACACACACGGATGAAGTCTTACTGTTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0019 a0002c0002t0003g0019	1	346	0.0029	33	c.122 others(52): Show c.1224-9291_1224-9290insGGATGAAGTCTTACTGTTTACACACA CACACAC		PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72844754	C C	CACACACA others(26): Show CACACACACACACACGGATGAAGTCTTACTGTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0055 a0002c0002t0003g0055	1	346	0.0029	33	c.122 others(52): Show c.1224-9289_1224-9288insGGATGAAGTCTTACTGTTTACACACA CACACAC		PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr13	TogoVar

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