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
PHF3_chr6_63630802_63731011	63727735	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0291 a0001c0001t0081g0291	1	320	0.0031	41	c.14 others(54): Show c.14027_*14028insTATATATATATATATATATATATATATATATA TATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1725		chr6	TogoVar
PHF3_chr6_63630802_63731011	63727737	A A	AAAAAAAT others(34): Show AAAAAAATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0287 a0001c0001t0034g0287	1	320	0.0031	41	c.14 others(54): Show c.14029_*14030insAAAAAATATATATATATATATATATATATATA TATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1727		chr6	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAAAAAAA others(34): Show AAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0119 a0001c0007t0001g0119	1	192	0.0052	41	c.157 others(62): Show c.1576+48818_1576+48819insAAAAAAATATATATATATATATAT ATATATATATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG02129.hp2 HG00544.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0282 a0001c0001t0019g0287 a0001c0001t0019g0282 a0001c0001t0019g0287	2	322	0.0062	41	c.50 others(52): Show c.5049_*5050insAAAAAAAAATATATATATATATATATATATATAT ATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0283 a0001c0001t0103g0283	1	322	0.0031	41	c.50 others(52): Show c.5049_*5050insAAAAAAAAAAATATATATATATATATATATATAT ATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0290 a0001c0001t0101g0290	1	322	0.0031	41	c.50 others(52): Show c.5049_*5050insAAAAAAAAAAAAATATATATATATATATATATAT ATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIBF1_chr13_72777133_73021461	72844746	C C	CACACACA others(34): Show CACACACACACACACACACACACGGATGAAGTCTTACTGTTT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0009 a0002c0002t0003g0009	1	346	0.0029	41	c.122 others(60): Show c.1224-9289_1224-9288insGGATGAAGTCTTACTGTTTACACACA CACACACACACACAC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIEZO1_chr16_88710338_88790220	88781293	G G	GAAACTTC others(34): Show GAAACTTCCTCTCTGTGGACCCTGGCAGCTGGGGCTGGAGCT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0085 a0085	a0085c0124 a0085c0124	a0085c0124t0001 a0085c0124t0001	a0085c0124t0001g0190 a0085c0124t0001g0190	1	282	0.0036	41	c.64+ others(56): Show c.64+3607_64+3608insAGCTCCAGCCCCAGCTGCCAGGGTCCACAG AGAGGAAGTTT	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	1/50			chr16	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	41	c.18 others(50): Show c.185_*186insATATATATATATATATATATATATATATATTTTTTT TTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(34): Show AAAAAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	384	0.0026	41	c.18 others(50): Show c.185_*186insATATATATATATATATATATATATATATATATTTTT TTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PINX1_chr8_10759961_10844875	10805879	G G	GGCCACAC others(34): Show GGCCACACTAGTGCTGAGGGAGGAGGCAGAGCACAGGAAGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp2 HG01169.hp2 others(13): Show HG00280.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01361.hp1 HG01496.hp2 HG02055.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0008 others(1): Show a0001c0003 a0001c0006 a0001c0008 a0001c0021	a0001c0003t0003 a0001c0006t0001 a0001c0008t0005 others(1): Show a0001c0003t0003 a0001c0006t0001 a0001c0008t0005 a0001c0021t0005	a0001c0003t0003g0003 a0001c0003t0003g0007 a0001c0003t0003g0107 others(11): Show a0001c0003t0003g0003 a0001c0003t0003g0007 a0001c0003t0003g0107 a0001c0003t0003g0110 a0001c0003t0003g0112 a0001c0003t0003g0115 a0001c0003t0003g0117 a0001c0003t0003g0128 a0001c0006t0001g0088 a0001c0008t0005g0184 a0001c0008t0005g0185 a0001c0008t0005g0186 a0001c0008t0005g0322 a0001c0021t0005g0103	16	352	0.0455	41	c.471 others(60): Show c.471+14313_471+14314insTTCTTCCTGTGCTCTGCCTCCTCCCT CAGCACTAGTGTGGC	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PINX1_chr8_10759961_10844875	10805897	G G	GGAGGAGG others(34): Show GGAGGAGGCAGAGCACAGGAAGAAGCCACACTAGTGCTGAGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp1 HG01109.hp1 others(16): Show HG00099.hp2 HG01081.hp1 HG01109.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG04199.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 a0001c0003t0001 a0001c0003t0003 a0001c0003t0006	a0001c0003t0001g0122 a0001c0003t0003g0003 a0001c0003t0003g0008 others(15): Show a0001c0003t0001g0122 a0001c0003t0003g0003 a0001c0003t0003g0008 a0001c0003t0003g0108 a0001c0003t0003g0111 a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0118 a0001c0003t0003g0121 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0129 a0001c0003t0006g0116 a0001c0003t0006g0119 a0001c0003t0006g0120	19	352	0.0540	41	c.471 others(60): Show c.471+14295_471+14296insACTCAGCACTAGTGTGGCTTCTTCCT GTGCTCTGCCTCCTC	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PIR_chrX_15379799_15498333	15492607	C C	CTTCTATC others(34): Show CTTCTATCTTTTTTTTTTATTTTTTTTTTTTTCATTTTCTTT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	272	0.0037	41	c.-53 others(56): Show c.-53+582_-53+583insAAAGAAAATGAAAAAAAAAAAAATAAAAAA AAAAGATAGAA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	1/9			chrX	TogoVar
PITPNM3_chr17_6446263_6561555	6561189	T T	TCCTCTTC others(34): Show TCCTCTTCTCCTCCTCTCCCTTCCTCTTCCCCTTCCTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	218	0.0046	41	c.-47 others(52): Show c.-4784_-4783insGAAGGAGGAAGGGGAAGAGGAAGGGAGAGGAGGA GAAGAGG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4635		chr17	TogoVar
PKP3_chr11_389209_409908	401808	G G	GGCCCCGC others(34): Show GGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0010 a0010	a0010c0033 a0010c0033	a0010c0033t0001 a0010c0033t0001	a0010c0033t0001g0124 a0010c0033t0001g0124	1	216	0.0046	41	c.173 others(60): Show c.1737+1103_1737+1104insGCCCCGCTCACCCCCGACCCGCTCAC CCCGGACCCCGCTCA	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLA2G4A_chr1_186823949_186993981	186857057	C C	CTGGATGA others(34): Show CTGGATGATCTGGGGAACTGGCCATTCAGTTTCTTCTTTTAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00642.hp1 others(56): Show HG00140.hp2 HG00597.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02258.hp2 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG03017.hp1 HG03041.hp1 HG03195.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04228.hp1 NA18747.hp2 NA18906.hp2 NA18946.hp1 NA18983.hp2 NA19003.hp1 NA19057.hp1 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(55): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0225 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0280 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0002g0126 a0001c0004t0001g0182 a0003c0005t0001g0230 a0003c0005t0001g0291	59	310	0.1903	41	c.33+ others(56): Show c.33+2670_33+2671insTGGATGATCTGGGGAACTGGCCATTCAGTT TCTTCTTTTAA	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	2/17			chr1	TogoVar
PLA2G4C_chr19_48042846_48115817	48055410	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0030 a0009c0017t0030	a0009c0017t0030g0319 a0009c0017t0030g0319	1	322	0.0031	41	c.125 others(58): Show c.1258-362_1258-361insTATATATATATATATATATATATATATA TATATATATATAT	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	14/16			chr19	TogoVar
PLCB1_chr20_8127266_8889900	8661947	A A	ATATATAA others(34): Show ATATATAATTATATAATTATTTATTATATAATTATATATAAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0009 a0002c0024t0009	a0002c0024t0009g0081 a0002c0024t0009g0081	1	106	0.0094	41	c.862 others(58): Show c.862+3255_862+3295dupATAATTATTTATTATATAATTATATATA ATTATATAATTAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB4_chr20_9064087_9485808	9332469	T T	TTTGCTCT others(34): Show TTTGCTCTGTGAATTTTCATGGGTGGTTTGAAGCATTTGGTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0118 a0001c0001t0012g0118	1	140	0.0071	41	c.85- others(56): Show c.85-4656_85-4616dupTTGCTCTGTGAATTTTCATGGGTGGTTTGA AGCATTTGGTC	PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	4/39		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCXD1_chrX_276381_308356	276610	G G	GGCCTGCA others(34): Show GGCCTGCACCCCTTGCAGACCGTGAATTCGGCAGCCACAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0079 a0001c0001t0025g0079	1	176	0.0057	41	c.-50 others(52): Show c.-5096_-5095insGCCTGCACCCCTTGCAGACCGTGAATTCGGCAGC CACAGGC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		4770		chrX	TogoVar
PLCXD1_chrX_276381_308356	280455	G G	GGGGAGGC others(34): Show GGGGAGGCCGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG01496.hp2 others(8): Show HG00735.hp2 HG01496.hp1 HG01496.hp2 HG02056.hp1 HG02148.hp2 HG02293.hp2 NA18948.hp1 NA18964.hp1 NA18969.hp1 NA19011.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0001t0026 a0001c0001t0028 others(6): Show a0001c0001t0009 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0003t0035 a0001c0003t0036	a0001c0001t0009g0065 a0001c0001t0009g0067 a0001c0001t0009g0075 others(8): Show a0001c0001t0009g0065 a0001c0001t0009g0067 a0001c0001t0009g0075 a0001c0001t0026g0064 a0001c0001t0028g0070 a0001c0001t0029g0019 a0001c0001t0030g0062 a0001c0001t0031g0066 a0001c0001t0032g0058 a0001c0003t0035g0006 a0001c0003t0036g0006	11	176	0.0625	41	c.-12 others(52): Show c.-1251_-1250insGGGAGGCCGTGCAGGGGGCAGCGGAGGCCGTGCA GGGGGAA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		925		chrX	TogoVar
PLCXD1_chrX_276381_308356	280600	A A	AGGCCGTG others(34): Show AGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGCGGAGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA19006.hp1 NA18991.hp1 NA19006.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0017 a0001c0001 a0004c0017	a0001c0001t0113 a0004c0017t0040 a0001c0001t0113 a0004c0017t0040	a0001c0001t0113g0166 a0004c0017t0040g0165 a0001c0001t0113g0166 a0004c0017t0040g0165	2	176	0.0114	41	c.-11 others(52): Show c.-1106_-1105insGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGCGG AGCGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		780		chrX	TogoVar
PLCXD1_chrX_276381_308356	280615	A A	AGGGGAAG others(34): Show AGGGGAAGACGTGCAGGCGGAGCGGGGGCCGTGCAGGCGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0040 a0001c0003t0002g0040	1	176	0.0057	41	c.-10 others(52): Show c.-1091_-1090insGGGGAAGACGTGCAGGCGGAGCGGGGGCCGTGCA GGCGGAG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		765		chrX	TogoVar
PLCXD1_chrX_276381_308356	280755	G G	GAAGGGAG others(34): Show GAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG02280.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0073 a0001c0001t0015g0074 a0001c0001t0015g0073 a0001c0001t0015g0074	2	176	0.0114	41	c.-95 others(50): Show c.-951_-950insAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAG GGGGC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		625		chrX	TogoVar
PLCXD1_chrX_276381_308356	280778	G G	GGGAGGCC others(34): Show GGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 NA18969.hp1 NA18980.hp1 others(2): Show HG01496.hp1 NA18969.hp1 NA18980.hp1 NA19011.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0028 a0001c0001t0031 others(2): Show a0001c0001t0009 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0037	a0001c0001t0009g0067 a0001c0001t0028g0070 a0001c0001t0031g0066 others(2): Show a0001c0001t0009g0067 a0001c0001t0028g0070 a0001c0001t0031g0066 a0001c0001t0032g0058 a0001c0001t0037g0063	5	176	0.0284	41	c.-92 others(50): Show c.-928_-927insGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGG GCAGC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		602		chrX	TogoVar
PLCXD1_chrX_276381_308356	297604	G G	GTCTCCCA others(34): Show GTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0149 a0001c0001t0012g0149	1	176	0.0057	41	c.734 others(58): Show c.734-1492_734-1491insCTCCCACATGGGGATTAGGACGTGGACA TCTTTGGGGACAT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLD1_chr3_171595404_171815483	171764878	A A	AGGAAGGA others(34): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0112 a0001c0002t0007g0112	1	294	0.0034	41	c.-31 others(60): Show c.-31-26797_-31-26796insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCC	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD5_chr1_242077986_242529697	242194614	C C	CTATCTAT others(34): Show CTATCTATCTAATCTATCTATCTATGTATCTATCTATCTATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0119 a0001c0001t0051g0119	1	188	0.0053	41	c.735 others(60): Show c.735+25373_735+25374insCATAGATAGATAGATACATAGATAGA TAGATTAGATAGATA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	5/9			chr1	TogoVar
PLEK2_chr14_67381984_67417165	67398551	T T	TACCCTTC others(34): Show TACCCTTCTCTTTATTCCTGCCACCTGAGAACCACCTAAACG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	354	0.0028	41	c.43- others(54): Show c.43-766_43-726dupCGTTTAGGTGGTTCTCAGGTGGCAGGAATAAA GAGAAGGGT	PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8			chr14	TogoVar
PLEK2_chr14_67381984_67417165	67399281	C C	CTCAGGTG others(34): Show CTCAGGTGGCAGGAATAAAGAGAAGGGTAGTTTAGGTGGCTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02257.hp2 others(7): Show HG01884.hp2 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02630.hp2 HG03139.hp2 HG03453.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0086 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089	10	354	0.0283	41	c.43- others(56): Show c.43-1496_43-1456dupCAGCCACCTAAACTACCCTTCTCTTTATTC CTGCCACCTGA	PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8			chr14	TogoVar
PLEK2_chr14_67381984_67417165	67399404	C C	CTCAGGTG others(34): Show CTCAGGTGGCAGGAATAAAGAGAAGGGTAGTTTAGGTGGCTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	354	0.0028	41	c.43- others(56): Show c.43-1619_43-1579dupCAGCCACCTAAACTACCCTTCTCTTTATTC CTGCCACCTGA	PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8			chr14	TogoVar
PLEK2_chr14_67381984_67417165	67399646	T T	TTCTCAGG others(34): Show TTCTCAGGTGGCAGGAATAAAGAGAAGGGTGGTTTAGGTGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02559.hp1 others(3): Show HG02257.hp2 HG02280.hp2 HG02559.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0001g0227 a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0001g0227	6	354	0.0170	41	c.43- others(56): Show c.43-1861_43-1821dupCCCACCTAAACCACCCTTCTCTTTATTCCT GCCACCTGAGA	PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8			chr14	TogoVar
PLEK2_chr14_67381984_67417165	67399648	C C	GTCAGGTG others(34): Show GTCAGGTGGCAGGAATAAAGAGAAGGGTAGTTTAGGTGGTTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	354	0.0028	41	c.43- others(56): Show c.43-1822_43-1821insAACCACCTAAACTACCCTTCTCTTTATTCC TGCCACCTGAC	PLEK2	ENSG00000100558.9	transcript	ENST00000216446.9	protein_coding	1/8			chr14	TogoVar
PLEKHG7_chr12_92697989_92777455	92737749	G G	GAGGAAGG others(34): Show GAGGAAGGAAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG01168.hp2 others(1): Show HG00099.hp1 HG00609.hp1 HG01168.hp2 HG01169.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0015 a0004c0006 a0001c0001 a0001c0015 a0004c0006	a0001c0001t0001 a0001c0015t0004 a0004c0006t0007 a0001c0001t0001 a0001c0015t0004 a0004c0006t0007	a0001c0001t0001g0113 a0001c0015t0004g0099 a0004c0006t0007g0218 others(1): Show a0001c0001t0001g0113 a0001c0015t0004g0099 a0004c0006t0007g0218 a0004c0006t0007g0219	4	252	0.0159	41	c.939 others(56): Show c.939+239_939+240insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGG	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHM3_chr2_207816288_208030527	207865801	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	200	0.0050	41	c.195 others(60): Show c.1951-4540_1951-4539insATATATATATATATATATATATATAT TTTTTTTTTTTTTTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	6/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207865801	A A	AAAAAAAA others(34): Show AAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	200	0.0050	41	c.195 others(60): Show c.1951-4540_1951-4539insATATATATATATATATATATATATAT ATATATTTTTTTTTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	6/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207925371	A A	AGGCTCAT others(34): Show AGGCTCATCTTCCTTTTGCCTCTTCTCCCCTGTTCACCTCCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0175 a0001c0001t0013g0175	1	200	0.0050	41	c.188 others(60): Show c.1886+5514_1886+5554dupAGGAGGTGAACAGGGGAGAAGAGGCA AAAGGAAGATGAGCC	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	5/7			chr2	TogoVar
PLGRKT_chr9_5352971_5442925	5424403	A A	ATATTAAC others(34): Show ATATTAACATATAATATATAACATATTATAAAATATAATATG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp2 HG02717.hp1 HG02809.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0022 a0004c0004t0001g0023 a0004c0004t0001g0022 a0004c0004t0001g0023	2	414	0.0048	41	c.81+ others(56): Show c.81+7493_81+7494insCATATTATATTTTATAATATGTTATATATT ATATGTTAATA	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAATATATATATATATATATATAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	384	0.0026	41	c.-24 others(52): Show c.-2481_-2480insAAAAAAAAAAAAAAATATATATATATATATATAT AATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 NA19067.hp2 HG02523.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0002t0001g0002 a0001c0001t0001g0004 a0001c0002t0001g0002	2	384	0.0052	41	c.-24 others(52): Show c.-2481_-2480insAAAAAAAAAAAAAATATATATATATATATATATA TATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(34): Show AAAAAAAAAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA19054.hp2 NA18962.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0002t0001g0002 a0001c0001t0001g0004 a0001c0002t0001g0002	2	384	0.0052	41	c.-24 others(52): Show c.-2481_-2480insAAAAAAAAAATATATATATATATATATATATATA TATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLOD1_chr1_11929717_11980537	11967642	A A	ATATATAT others(34): Show ATATATATATATATATATAAAGAAATATATATAGATTTTATT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0307 a0004c0011t0001g0307	1	380	0.0026	41	c.175 others(58): Show c.1755+568_1755+569insAAAGAAATATATATAGATTTTATTTATA TATATATATATAT	PLOD1	ENSG00000083444.17	transcript	ENST00000196061.5	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557008	A A	AAGAAGGA others(34): Show AAGAAGGAAAGAAAGAAAGAAAAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	336	0.0030	41	c.140 others(60): Show c.140-19897_140-19896insCTTTCTTTCTCTTTCTTTCTTTTCTT TCTTTCTTTCCTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557010	G G	GAAAGAAA others(34): Show GAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01361.hp1 HG02602.hp1 others(1): Show HG00621.hp2 HG01361.hp1 HG02602.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0325 a0001c0001t0002g0114 a0001c0001t0004g0101 others(1): Show a0001c0001t0001g0325 a0001c0001t0002g0114 a0001c0001t0004g0101 a0001c0001t0005g0278	4	336	0.0119	41	c.140 others(60): Show c.140-19899_140-19898insTTCTTTCTCTTTCTTTCTTTTCTTTC TTTCTTTCTTTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557010	G G	GAAAGAAA others(34): Show GAAAGAAAGAAGGAAAGAAAGAAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG01884.hp1 others(4): Show HG00280.hp2 HG00741.hp1 HG01884.hp1 HG01993.hp2 HG02273.hp2 HG02976.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0003t0004 a0002c0004t0003	a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0004g0174 others(4): Show a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0004g0174 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0003t0004g0173 a0002c0004t0003g0013	7	336	0.0208	41	c.140 others(60): Show c.140-19899_140-19898insTTCTTTCTCTTTCTTTCTTTTCTTTC TTTCCTTCTTTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557010	G G	GAAAGAAG others(34): Show GAAAGAAGGAAAGAAAGAAAGAAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02896.hp1 NA19068.hp2 HG02165.hp1 HG02896.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0001t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0310 a0001c0001t0005g0051 a0001c0002t0001g0147 a0001c0001t0001g0310 a0001c0001t0005g0051 a0001c0002t0001g0147	3	336	0.0089	41	c.140 others(60): Show c.140-19899_140-19898insTTCTTTCTCTTTCTTTCTTTTCTTTC TTTCTTTCCTTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLSCR4_chr3_146187335_146256105	146192129	T T	TAATATAT others(34): Show TAATATATATAAATTATATATATTATATATAAATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0090 a0002c0002t0006g0090	1	380	0.0026	41	c.22 others(52): Show c.2281_*2282insTTATATATATTTATATATAATATATATAATTTAT ATATATT	PLSCR4	ENSG00000114698.15	transcript	ENST00000354952.7	protein_coding		205		chr3	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AGAAAGAA others(34): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA19079.hp2 NA18970.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0297 a0001c0001t0001g0299	2	436	0.0046	41	c.-49 others(52): Show c.-4989_-4988insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4935		chr19	TogoVar
PLXNA4_chr7_132118340_132581470	132188996	G G	GAGGAGAG others(34): Show GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0005 a0001c0028t0005	a0001c0028t0005g0073 a0001c0028t0005g0073	1	88	0.0114	41	c.285 others(60): Show c.2857-1390_2857-1389insTTTCCTTTCCTCTCCTCTCCTCTCCT CTCCTCTCCTCTCCT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	14/31			chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50285674	C C	CACCTTAG others(34): Show CACCTTAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0012 a0005c0016t0012	a0005c0016t0012g0256 a0005c0016t0012g0256	1	302	0.0033	41	c.208 others(58): Show c.2088+125_2088+126insACGGAGGGAGGGGTGCCGGCCGGTGACA GGCAGGCTAAGGT	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	11/36			chr22	TogoVar

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Search Results (Total: 2600 hits)