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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PIEZO2_chr18_10665247_11154569	10886378	G G	GTATATAC others(37): Show GTATATACATATACACACACATATATATGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0088 a0001c0088	a0001c0088t0001 a0001c0088t0001	a0001c0088t0001g0130 a0001c0088t0001g0130	1	158	0.0063	44	c.330 others(63): Show c.330-14964_330-14963insTACACACACACACACACATATATATG TGTGTGTATATGTATATA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIGT_chr20_45411141_45431241	45420657	A A	AACATCCA others(37): Show AACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAATGGTGAGTGG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0018 a0010c0015t0001g0018	1	462	0.0022	44	c.998 others(54): Show c.998_1033+8dupACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAAT GGTGAGTGG	PIGT	ENSG00000124155.19	transcript	ENST00000279036.12	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PIGZ_chr3_196941356_196973833	196948903	C C	CCCTTCCC others(37): Show CCCTTCCCCTCCCCTCCCCTCCCTTCCTTCCCTTTACTTCTCTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0011 a0011	a0011c0059 a0011c0059	a0011c0059t0006 a0011c0059t0006	a0011c0059t0006g0246 a0011c0059t0006g0246	1	424	0.0024	44	c.212 others(59): Show c.212-219_212-218insAAAGAGAAGTAAAGGGAAGGAAGGGAGGGG AGGGGAGGGGAAGG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	2/2			chr3	TogoVar
PIGZ_chr3_196941356_196973833	196948941	T T	TCCCCTCC others(37): Show TCCCCTCCCCTCCCTTCCCTTCCTTTCCTTTACTTCCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19043.hp1 HG02723.hp2 NA19043.hp1	a0005 a0015 a0005 a0015	a0005c0049 a0015c0056 a0005c0049 a0015c0056	a0005c0049t0002 a0015c0056t0002 a0005c0049t0002 a0015c0056t0002	a0005c0049t0002g0098 a0015c0056t0002g0064 a0005c0049t0002g0098 a0015c0056t0002g0064	2	424	0.0047	44	c.212 others(59): Show c.212-257_212-256insGAAGGAAGGGAAGTAAAGGAAAGGAAGGGA AGGGAGGGGAGGGG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	2/2			chr3	TogoVar
PIGZ_chr3_196941356_196973833	196948941	T T	TTCCCTCC others(37): Show TTCCCTCCCCTCCCTTCCCTTCCTTTCCTTTACTTCCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03516.hp2 HG03225.hp1 HG03516.hp2	a0011 a0014 a0011 a0014	a0011c0057 a0014c0058 a0011c0057 a0014c0058	a0011c0057t0001 a0014c0058t0006 a0011c0057t0001 a0014c0058t0006	a0011c0057t0001g0247 a0014c0058t0006g0219 a0011c0057t0001g0247 a0014c0058t0006g0219	2	424	0.0047	44	c.212 others(59): Show c.212-257_212-256insGAAGGAAGGGAAGTAAAGGAAAGGAAGGGA AGGGAGGGGAGGGA	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	2/2			chr3	TogoVar
PIK3CB_chr3_138647698_138839928	138693943	A A	ATATATAT others(37): Show ATATATATATATATATATATATTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	206	0.0049	44	c.189 others(61): Show c.1892+842_1892+843insATATATATATATATATATATATAATATA TATATATATATATATA	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	14/23			chr3	TogoVar
PIK3CB_chr3_138647698_138839928	138693945	A A	ATATATAT others(37): Show ATATATATATATATATATATTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	206	0.0049	44	c.189 others(61): Show c.1892+840_1892+841insATATATATATATATATATATATATAATA TATATATATATATATA	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	14/23			chr3	TogoVar
PIK3R1_chr5_68210756_68306821	68262863	G G	GTATACAT others(37): Show GTATACATATATACATGTAGATACATGTAGATGCATGTATACATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0007 a0001c0001t0050g0007	1	308	0.0033	44	c.335 others(63): Show c.335-10520_335-10519insATATACATGTAGATACATGTAGATGC ATGTATACATATATACAT	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262946	G G	GATACATG others(37): Show GATACATGTATACATGTAGATGCATGTAGATACATGTATACATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18998.hp1 HG02602.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0119 a0001c0001t0042 a0001c0001t0119	a0001c0001t0042g0073 a0001c0001t0119g0253 a0001c0001t0042g0073 a0001c0001t0119g0253	2	308	0.0065	44	c.335 others(63): Show c.335-10435_335-10434insTACATGTAGATGCATGTAGATACATG TATACATATATACATGTA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262982	G G	GATACATG others(37): Show GATACATGTATACATGTAGATGCATGTAGATACATGTATACATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0022 a0001c0001t0106g0022	1	308	0.0033	44	c.335 others(63): Show c.335-10399_335-10398insTACATGTAGATGCATGTAGATACATG TATACATATATACATGTA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(37): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0304 a0001c0001t0013g0304	1	318	0.0031	44	c.315 others(61): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIP4K2A_chr10_22529854_22719578	22664066	T T	TATATATA others(37): Show TATATATATACGTATATATATATATACGTATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0019 a0001c0002t0032g0019	1	206	0.0049	44	c.144 others(63): Show c.144+50116_144+50117insGTATATATATATATATACGTATATAT ATATATACGTATATATAT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIPOX_chr17_29038141_29062216	29039609	C C	CATATATA others(37): Show CATATATATACATATATATATATATATATATACACACATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0048 a0001c0001t0008g0048	1	396	0.0025	44	c.-36 others(55): Show c.-3617_-3616insATATATATACATATATATATATATATATATACAC ACATATATAT	PIPOX	ENSG00000179761.12	transcript	ENST00000323372.9	protein_coding		3531		chr17	TogoVar
PITHD1_chr1_23773418_23793232	23783400	C C	CATATATA others(37): Show CATATATATACACACATATATGTGTATATATACATATATACACAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0041 a0001c0001t0008g0041	1	372	0.0027	44	c.321 others(61): Show c.321-2268_321-2267insTACACACATATATGTGTATATATACATA TATACACATATATATA	PITHD1	ENSG00000057757.10	transcript	ENST00000246151.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PITHD1_chr1_23773418_23793232	23783400	C C	CATATATA others(37): Show CATATATATATACACATATATGTGTATATATACATATATACGCAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01175.hp1 others(7): Show HG00639.hp2 HG00735.hp1 HG01175.hp1 HG02451.hp2 HG02622.hp1 HG02970.hp1 HG03225.hp2 NA18522.hp1 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0064 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0064 a0001c0002t0003g0011	10	372	0.0269	44	c.321 others(61): Show c.321-2268_321-2267insTATACACATATATGTGTATATATACATA TATACGCATATATATA	PITHD1	ENSG00000057757.10	transcript	ENST00000246151.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PITPNC1_chr17_67372281_67702256	67413401	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0060 a0001c0001t0017g0060	1	218	0.0046	44	c.48+ others(61): Show c.48+35230_48+35231insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTCTTTTT others(37): Show TTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02015.hp1 HG02056.hp1 others(7): Show HG01175.hp1 HG02015.hp1 HG02056.hp1 HG02083.hp2 HG02109.hp2 HG02738.hp1 HG02970.hp2 HG03017.hp1 HG03710.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0038 a0001c0001t0053 a0001c0001t0072	a0001c0001t0001g0079 a0001c0001t0002g0097 a0001c0001t0003g0036 others(7): Show a0001c0001t0001g0079 a0001c0001t0002g0097 a0001c0001t0003g0036 a0001c0001t0004g0046 a0001c0001t0005g0089 a0001c0001t0005g0152 a0001c0001t0015g0015 a0001c0001t0038g0216 a0001c0001t0053g0185 a0001c0001t0072g0064	10	218	0.0459	44	c.49- others(61): Show c.49-38616_49-38615insCTTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561199	C C	CCTCCTCT others(37): Show CCTCCTCTCCCTTCCTCTTCCCCCTTCCTCCTTCCCCTCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0084 a0001c0001t0005g0084	1	218	0.0046	44	c.-47 others(55): Show c.-4794_-4793insAAGGAAGAGGGGAAGGAGGAAGGGGGAAGAGGAA GGGAGAGGAG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4645		chr17	TogoVar
PIWIL3_chr22_24714034_24779720	24757661	C C	CACACACA others(37): Show CACACACACACACACACACACATATATATAAAATATGTATATATT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0254 a0001c0001t0001g0255	2	386	0.0052	44	c.355 others(59): Show c.355+246_355+247insAATATATACATATTTTATATATATGTGTGT GTGTGTGTGTGTGT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PKDCC_chr2_42043021_42063517	42044175	G G	GAAGGAAG others(37): Show GAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02083.hp1 NA18977.hp2 others(3): Show HG02027.hp2 HG02083.hp1 NA18977.hp2 NA18985.hp1 NA18985.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0007 a0002c0002t0002 a0001c0004t0007 a0002c0002t0002	a0001c0004t0007g0016 a0002c0002t0002g0002 a0002c0002t0002g0007 others(1): Show a0001c0004t0007g0016 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0042	6	432	0.0139	44	c.-40 others(55): Show c.-4025_-4024insAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAA GAAAGAAAGA	PKDCC	ENSG00000162878.13	transcript	ENST00000294964.6	protein_coding		3845		chr2	TogoVar
PKDCC_chr2_42043021_42063517	42044175	G G	GAAGGAAG others(37): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA18979.hp2 HG02165.hp1 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0002 a0002c0002t0002g0006	2	432	0.0046	44	c.-40 others(55): Show c.-4025_-4024insAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAA GAAAGAAAGA	PKDCC	ENSG00000162878.13	transcript	ENST00000294964.6	protein_coding		3845		chr2	TogoVar
PKDCC_chr2_42043021_42063517	42044175	G G	GAAGGAAG others(37): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0005 a0001c0003t0002g0005	1	432	0.0023	44	c.-40 others(55): Show c.-4025_-4024insAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAA GAAAGAAAGA	PKDCC	ENSG00000162878.13	transcript	ENST00000294964.6	protein_coding		3845		chr2	TogoVar
PKHD1_chr6_51610299_52092613	51801639	T T	TTGTGTGT others(37): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03540.hp1 HG02922.hp1 HG03540.hp1	a0011 a0037 a0011 a0037	a0011c0017 a0037c0060 a0011c0017 a0037c0060	a0011c0017t0005 a0037c0060t0005 a0011c0017t0005 a0037c0060t0005	a0011c0017t0005g0080 a0037c0060t0005g0022 a0011c0017t0005g0080 a0037c0060t0005g0022	2	134	0.0149	44	c.830 others(65): Show c.8303-10267_8303-10266insCACACACACACACACACACACACA CACACACACACACACACACA	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	52/66			chr6	TogoVar
PKIA_chr8_78511340_78610267	78549327	C C	CACACTAG others(37): Show CACACTAGCTTTTTTTAGATATGCACATTTTAGATATGCACATTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	186	0.0054	44	c.-15 others(65): Show c.-156-23483_-156-23482insCACTAGCTTTTTTTAGATATGCAC ATTTTAGATATGCACATTTA	PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKNOX2_chr11_125159751_125438389	125178549	A A	AGAAGGAA others(37): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0136	1	222	0.0045	44	c.-20 others(65): Show c.-201+13788_-201+13789insGGAAGGAAGGAAGGAAAGAAAGAA GGAAGGAAGGAAGGAAGGAA	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKNOX2_chr11_125159751_125438389	125309130	C C	CCTTCCTT others(37): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19043.hp2 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0135 a0001c0001t0004g0171 a0001c0001t0001g0135 a0001c0001t0004g0171	2	222	0.0090	44	c.-12 others(65): Show c.-129-22686_-129-22685insCCTTCCTTCCTTCCTTCCTTCCTT CCTTTCTTTCTTTCTTTCTT	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP1_chr1_201278506_201337989	201316117	C C	CGGATGGA others(37): Show CGGATGGACGGACGGACGGACGGACGGACGGACGGACGGACGGAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02109.hp2 others(6): Show HG01884.hp1 HG02055.hp2 HG02109.hp2 HG02451.hp1 HG02723.hp1 HG02896.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1	a0004 a0004	a0004c0008 a0004c0014 a0004c0008 a0004c0014	a0004c0008t0006 a0004c0008t0017 a0004c0008t0029 others(1): Show a0004c0008t0006 a0004c0008t0017 a0004c0008t0029 a0004c0014t0006	a0004c0008t0006g0035 a0004c0008t0006g0065 a0004c0008t0006g0066 others(4): Show a0004c0008t0006g0035 a0004c0008t0006g0065 a0004c0008t0006g0066 a0004c0008t0017g0039 a0004c0008t0029g0235 a0004c0014t0006g0203 a0004c0014t0006g0232	9	334	0.0270	44	c.702 others(59): Show c.702-413_702-412insCGGACGGACGGACGGACGGATGGATGGACG GACGGACGGACGGA	PKP1	ENSG00000081277.13	transcript	ENST00000367324.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP1_chr1_201278506_201337989	201316121	T T	TGGACGGA others(37): Show TGGACGGACGGACGGACGGACGGACGGACGGACGGACGGACGGAC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0182 a0001c0002t0002g0182	1	334	0.0030	44	c.702 others(59): Show c.702-413_702-412insCGGACGGACGGACGGACGGACGGACGGACG GACGGACGGACGGA	PKP1	ENSG00000081277.13	transcript	ENST00000367324.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP1_chr1_201278506_201337989	201316121	T T	TGGACGGA others(37): Show TGGACGGACGGACGGATGGACGGACGGACGGACGGACGGACGGAC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0169 a0001c0002t0002g0169	1	334	0.0030	44	c.702 others(59): Show c.702-417_702-416insTGGACGGACGGACGGACGGACGGACGGACG GACGGACGGACGGA	PKP1	ENSG00000081277.13	transcript	ENST00000367324.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP1_chr1_201278506_201337989	201316143	G G	GATGGATG others(37): Show GATGGATGGATGGATGGATGGATGGATGGATGGACGGACGGACGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	334	0.0030	44	c.702 others(59): Show c.702-409_702-408insTGGATGGATGGATGGATGGATGGATGGATG GACGGACGGACGTA	PKP1	ENSG00000081277.13	transcript	ENST00000367324.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4C_chr19_48042846_48115817	48055389	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02886.hp1 HG02818.hp1 HG02886.hp1	a0004 a0011 a0004 a0011	a0004c0002 a0011c0018 a0004c0002 a0011c0018	a0004c0002t0003 a0011c0018t0019 a0004c0002t0003 a0011c0018t0019	a0004c0002t0003g0135 a0011c0018t0019g0184 a0004c0002t0003g0135 a0011c0018t0019g0184	2	322	0.0062	44	c.125 others(61): Show c.1258-341_1258-340insTATATATATATATATATATATATATATA TATATATATATATATA	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	14/16			chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105939	C C	CTTCTTTC others(37): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0038 a0006c0011t0001g0038	1	322	0.0031	44	c.9-4 others(55): Show c.9-496_9-495insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16			chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105945	C C	CCTTTCTT others(37): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	322	0.0031	44	c.9-5 others(55): Show c.9-502_9-501insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16			chr19	TogoVar
PLAAT3_chr11_63569462_63619433	63571808	G G	GGGGAGGG others(37): Show GGGGAGGGGAGGGGAGGGGAGGGAAGGGGAGGAGAGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	352	0.0028	44	c.31 others(55): Show c.3136_*3137insTCCCCTCCCCTCTCCTCCCCTTCCCTCCCCTCCC CTCCCCTCCC	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		2653		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615022	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATGTATGTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 NA18940.hp1 NA18951.hp1 others(4): Show HG01123.hp1 NA18940.hp1 NA18951.hp1 NA18960.hp1 NA18969.hp1 NA18983.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0016 others(3): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0033 a0001c0001t0002g0044 a0001c0001t0002g0088	7	352	0.0199	44	c.-69 others(53): Show c.-693_-692insCATATATACATACATATATATATATATATATATATA TATATATA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		590		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615050	A A	ATATATAT others(37): Show ATATATATATATGTATGTATATATGTATATATGTGTATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	352	0.0028	44	c.-72 others(53): Show c.-721_-720insCATATATATACACATATATACATATATACATACATA TATATATA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		618		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615064	G G	GTGTATAT others(37): Show GTGTATATATATGTGTGTGTATATGTGTATATATATGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00733.hp1 HG01516.hp1 others(7): Show HG00597.hp1 HG00733.hp1 HG01516.hp1 HG01517.hp1 HG02055.hp1 HG02109.hp2 HG03516.hp2 NA19056.hp1 NA19077.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0218 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0301 a0001c0001t0001g0331 a0001c0001t0007g0281	10	352	0.0284	44	c.-73 others(53): Show c.-735_-734insTATATACACATATATATACACATATACACACACATA TATATACA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		632		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615064	G G	GTGTATAT others(37): Show GTGTATATATATGTGTGTGTATATGTGTATATATATGTGTGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG02886.hp2 others(2): Show HG00642.hp2 HG00673.hp1 HG02886.hp2 HG03453.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 others(2): Show a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162	5	352	0.0142	44	c.-73 others(53): Show c.-735_-734insTATACACACATATATATACACATATACACACACATA TATATACA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		632		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615064	G G	GTGTATAT others(37): Show GTGTATATATATGTGTGTGTATGTGTGTATATATATGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02895.hp1 HG03130.hp1 others(1): Show HG02572.hp2 HG02895.hp1 HG03130.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0183 a0001c0001t0001g0207 a0001c0001t0003g0208 others(1): Show a0001c0001t0001g0183 a0001c0001t0001g0207 a0001c0001t0003g0208 a0001c0001t0003g0211	4	352	0.0114	44	c.-73 others(53): Show c.-735_-734insTATATACACATATATATACACACATACACACACATA TATATACA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		632		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615080	G G	GTGTATAT others(37): Show GTGTATATGTGTATATATATGTGTATATATGTGTATATGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	352	0.0028	44	c.-75 others(53): Show c.-751_-750insTACACACATATACACATATATACACATATATATACA CATATACA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		648		chr11	TogoVar
PLAG1_chr8_56155909_56216273	56210948	T T	TTATTAAT others(37): Show TTATTAATTTTCTCGATAATAGATATAGTTAATTTTTTATGAACA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0225	1	308	0.0033	44	c.-32 others(61): Show c.-322+172_-322+173insTGTTCATAAAAAATTAACTATATCTATT ATCGAGAAAATTAATA	PLAG1	ENSG00000181690.8	transcript	ENST00000316981.8	protein_coding	1/4			chr8	TogoVar
PLCB1_chr20_8127266_8889900	8574754	C C	CCACCAAC others(37): Show CCACCAACTTTCTTGAGTCATTGGTTGATGGTTGTTTCCAGGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp1 HG03041.hp1 others(3): Show HG02258.hp2 HG02559.hp1 HG03041.hp1 NA18906.hp1 NA19030.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0007 others(3): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008 a0001c0022 a0002c0025	a0001c0001t0006 a0001c0006t0020 a0001c0007t0007 others(3): Show a0001c0001t0006 a0001c0006t0020 a0001c0007t0007 a0001c0008t0012 a0001c0022t0015 a0002c0025t0001	a0001c0001t0006g0028 a0001c0006t0020g0074 a0001c0007t0007g0014 others(3): Show a0001c0001t0006g0028 a0001c0006t0020g0074 a0001c0007t0007g0014 a0001c0008t0012g0104 a0001c0022t0015g0100 a0002c0025t0001g0044	6	106	0.0566	44	c.247 others(63): Show c.247-53537_247-53494dupCCAACTTTCTTGAGTCATTGGTTGAT GGTTGTTTCCAGGAGACA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCG2_chr16_81774291_81967685	81776079	C C	CTCGTTCT others(37): Show CTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0069 a0001c0069	a0001c0069t0007 a0001c0069t0007	a0001c0069t0007g0169 a0001c0069t0007g0169	1	330	0.0030	44	c.-33 others(55): Show c.-3393_-3392insTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding		3211		chr16	TogoVar
PLCG2_chr16_81774291_81967685	81776079	C C	CTCGTTCT others(37): Show CTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG02155.hp2 NA18953.hp2 others(1): Show HG01943.hp2 HG02155.hp2 NA18953.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0002 a0001c0001t0024 a0001c0003t0002 others(1): Show a0001c0001t0002 a0001c0001t0024 a0001c0003t0002 a0001c0009t0020	a0001c0001t0002g0247 a0001c0001t0024g0185 a0001c0003t0002g0258 others(1): Show a0001c0001t0002g0247 a0001c0001t0024g0185 a0001c0003t0002g0258 a0001c0009t0020g0264	4	330	0.0121	44	c.-33 others(55): Show c.-3393_-3392insTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTTTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding		3211		chr16	TogoVar
PLCG2_chr16_81774291_81967685	81776081	C C	CGTTCTTT others(37): Show CGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0017 a0017	a0017c0043 a0017c0043	a0017c0043t0041 a0017c0043t0041	a0017c0043t0041g0323 a0017c0043t0041g0323	1	330	0.0030	44	c.-33 others(55): Show c.-3391_-3390insGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding		3209		chr16	TogoVar
PLCXD1_chrX_276381_308356	281101	G G	GGGGTACG others(37): Show GGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0164 a0001c0001t0041g0164	1	176	0.0057	44	c.-60 others(53): Show c.-605_-604insGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGG GAAGGGGA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		279		chrX	TogoVar
PLD4_chr14_104919879_104938236	104934132	G G	GGCGACCC others(37): Show GGCGACCCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	426	0.0024	44	c.11 others(55): Show c.1168_*1169insGCGACCCGGGGCTGAGGGGACGGGGAGGGCGGGA GGGGACCCGC	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		897		chr14	TogoVar
PLD5_chr1_242077986_242529697	242394661	T T	TATATATG others(37): Show TATATATGTGTATATATGTGAACATATATGTGTATATATGTGAAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0032 a0003c0004t0032	a0003c0004t0032g0055 a0003c0004t0032g0055	1	188	0.0053	44	c.190 others(63): Show c.190-46463_190-46420dupGTTCACATATATACACATATATGTTC ACATATATACACATATAT	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242394998	T T	TATATATG others(37): Show TATATATGAATATATGAATATATATGAATATATATGTATATATGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00621.hp2 others(17): Show HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00738.hp2 HG01071.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG02027.hp1 HG02080.hp1 HG02135.hp1 HG02809.hp1 HG02895.hp1 HG03688.hp1 HG03710.hp1 HG04184.hp2 NA18942.hp1 NA18945.hp2 NA18950.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0020 a0001c0001t0027 a0001c0001t0030 a0001c0001t0056 a0001c0002t0003 a0001c0002t0009 a0001c0002t0071 a0001c0002t0083	a0001c0001t0001g0022 a0001c0001t0001g0090 a0001c0001t0001g0092 others(17): Show a0001c0001t0001g0022 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0002g0067 a0001c0001t0002g0100 a0001c0001t0002g0106 a0001c0001t0004g0056 a0001c0001t0005g0014 a0001c0001t0008g0041 a0001c0001t0010g0098 a0001c0001t0020g0029 a0001c0001t0027g0023 a0001c0001t0030g0091 a0001c0001t0056g0125 a0001c0002t0003g0152 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0009g0177 a0001c0002t0071g0173 a0001c0002t0083g0187	20	188	0.1064	44	c.190 others(63): Show c.190-46757_190-46756insTCATATATACATATATATTCATATAT ATTCATATATTCATATAT	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEKHA5_chr12_19124733_19381400	19308897	G G	GCGCGTGC others(37): Show GCGCGTGCGCGCGCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0035 a0001c0001t0021g0035	1	316	0.0032	44	c.203 others(63): Show c.2038-5916_2038-5915insGCGTGCGCGCGCACACACACACACAC ACACACACACACACACAC	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	15/31		INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 4475 hits)