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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
POLQ_chr3_121426431_121550988	121522284	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19056.hp2 HG02155.hp1 NA19056.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0122 a0003c0002t0001g0157 a0003c0002t0001g0122 a0003c0002t0001g0157	2	318	0.0063	34	c.110 others(51): Show c.1109-169_1109-136dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding	7/29			chr3	TogoVar
POLR3E_chr16_22292409_22340096	22303639	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	358	0.0028	34	c.36+ others(47): Show c.36+653_36+654insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	POLR3E	ENSG00000058600.16	transcript	ENST00000299853.10	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
POLR3G_chr5_90469864_90519557	90514755	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 NA19009.hp2 HG02080.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0037 a0001c0001t0010 a0001c0001t0037	a0001c0001t0010g0225 a0001c0001t0037g0230 a0001c0001t0010g0225 a0001c0001t0037g0230	2	366	0.0055	34	c.26 others(45): Show c.2616_*2617insACACACACACACACACACACACACACACACACAC	POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding		199		chr5	TogoVar
POLRMT_chr19_612221_638537	614020	A A	AGCGGGCC others(27): Show AGCGGGCCGGGGGCGTGGCCGGGGCGGGTGCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0052 a0005c0009t0001g0052	1	422	0.0024	34	c.32 others(45): Show c.3220_*3253dupCAGGGCACCCGCCCCGGCCACGCCCCCGGCCCGC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		3200		chr19	TogoVar
POLRMT_chr19_612221_638537	614028	G G	GGGGGCGT others(27): Show GGGGGCGTGGCCGGGGCGGGTGCCCTGGCGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(132): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18941.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp2 NA18955.hp1 NA18960.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18972.hp1 NA18979.hp1 NA18983.hp2 NA18989.hp2 NA18990.hp1 NA18995.hp2 NA19003.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19062.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0012 a0013 a0016 a0018 a0025 a0026 a0027 a0030 a0035 a0039 a0040	a0001c0001 a0001c0028 a0002c0003 others(32): Show a0001c0001 a0001c0028 a0002c0003 a0002c0006 a0002c0007 a0002c0030 a0002c0041 a0002c0044 a0002c0048 a0002c0052 a0002c0069 a0002c0070 a0003c0002 a0003c0019 a0003c0075 a0004c0004 a0004c0029 a0004c0039 a0006c0008 a0007c0010 a0008c0011 a0008c0036 a0012c0017 a0013c0047 a0013c0067 a0013c0068 a0016c0060 a0018c0032 a0025c0065 a0026c0045 a0027c0046 a0030c0049 a0035c0074 a0039c0034 a0040c0033	a0001c0001t0001 a0001c0001t0011 a0001c0028t0001 others(45): Show a0001c0001t0001 a0001c0001t0011 a0001c0028t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0008 a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 a0002c0006t0004 a0002c0007t0001 a0002c0007t0002 a0002c0030t0002 a0002c0041t0002 a0002c0044t0002 a0002c0048t0001 a0002c0052t0002 a0002c0069t0002 a0002c0070t0002 a0003c0002t0002 a0003c0002t0004 a0003c0019t0004 a0003c0075t0004 a0004c0004t0002 a0004c0004t0003 a0004c0029t0002 a0004c0039t0002 a0006c0008t0002 a0006c0008t0003 a0007c0010t0002 a0008c0011t0002 a0008c0011t0003 a0008c0011t0006 a0008c0036t0002 a0012c0017t0002 a0013c0047t0003 a0013c0067t0002 a0013c0068t0002 a0016c0060t0001 a0018c0032t0004 a0025c0065t0002 a0026c0045t0002 a0027c0046t0002 a0030c0049t0003 a0035c0074t0004 a0039c0034t0006 a0040c0033t0002	a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0083 others(124): Show a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0083 a0001c0001t0011g0349 a0001c0028t0001g0037 a0001c0028t0001g0075 a0002c0003t0001g0030 a0002c0003t0002g0243 a0002c0003t0002g0244 a0002c0003t0002g0253 a0002c0003t0003g0286 a0002c0003t0003g0306 a0002c0003t0008g0344 a0002c0006t0001g0050 a0002c0006t0002g0026 a0002c0006t0002g0239 a0002c0006t0002g0241 a0002c0006t0002g0248 a0002c0006t0002g0249 a0002c0006t0002g0250 a0002c0006t0002g0251 a0002c0006t0002g0254 a0002c0006t0002g0255 a0002c0006t0003g0295 a0002c0006t0003g0296 a0002c0006t0004g0171 a0002c0007t0001g0051 a0002c0007t0002g0025 a0002c0007t0002g0210 a0002c0007t0002g0212 a0002c0007t0002g0217 a0002c0007t0002g0218 a0002c0007t0002g0219 a0002c0007t0002g0220 a0002c0007t0002g0221 a0002c0007t0002g0223 a0002c0007t0002g0226 a0002c0007t0002g0227 a0002c0030t0002g0199 a0002c0030t0002g0200 a0002c0041t0002g0216 a0002c0044t0002g0252 a0002c0048t0001g0044 a0002c0052t0002g0242 a0002c0069t0002g0211 a0002c0070t0002g0222 a0003c0002t0002g0258 a0003c0002t0002g0259 a0003c0002t0004g0006 a0003c0002t0004g0007 a0003c0002t0004g0020 a0003c0002t0004g0126 a0003c0002t0004g0127 a0003c0002t0004g0131 a0003c0002t0004g0133 a0003c0002t0004g0134 a0003c0002t0004g0135 a0003c0002t0004g0137 a0003c0002t0004g0138 a0003c0002t0004g0139 a0003c0002t0004g0141 a0003c0002t0004g0142 a0003c0002t0004g0143 a0003c0002t0004g0144 a0003c0002t0004g0145 a0003c0002t0004g0146 a0003c0002t0004g0150 a0003c0002t0004g0151 a0003c0002t0004g0152 a0003c0002t0004g0153 a0003c0002t0004g0154 a0003c0002t0004g0155 a0003c0002t0004g0157 a0003c0002t0004g0158 a0003c0002t0004g0159 a0003c0002t0004g0165 a0003c0019t0004g0022 a0003c0019t0004g0140 a0003c0075t0004g0132 a0004c0004t0002g0186 a0004c0004t0002g0194 a0004c0004t0002g0230 a0004c0004t0002g0232 a0004c0004t0002g0260 a0004c0004t0002g0261 a0004c0004t0002g0263 a0004c0004t0002g0264 a0004c0004t0002g0265 a0004c0004t0002g0266 a0004c0004t0003g0290 a0004c0004t0003g0291 a0004c0004t0003g0292 a0004c0029t0002g0205 a0004c0029t0002g0208 a0004c0039t0002g0262 a0006c0008t0002g0271 a0006c0008t0003g0332 a0006c0008t0003g0333 a0006c0008t0003g0334 a0006c0008t0003g0335 a0006c0008t0003g0336 a0006c0008t0003g0337 a0007c0010t0002g0267 a0007c0010t0002g0268 a0007c0010t0002g0269 a0008c0011t0002g0229 a0008c0011t0002g0231 a0008c0011t0002g0233 a0008c0011t0002g0234 a0008c0011t0003g0279 a0008c0011t0006g0339 a0008c0036t0002g0175 a0012c0017t0002g0202 a0012c0017t0002g0203 a0012c0017t0002g0204 a0013c0047t0003g0326 a0013c0067t0002g0213 a0013c0068t0002g0228 a0016c0060t0001g0033 a0018c0032t0004g0136 a0025c0065t0002g0209 a0026c0045t0002g0247 a0027c0046t0002g0238 a0030c0049t0003g0281 a0035c0074t0004g0149 a0039c0034t0006g0338 a0040c0033t0002g0174	135	422	0.3199	34	c.32 others(45): Show c.3212_*3245dupTCCCCCGCCAGGGCACCCGCCCCGGCCACGCCCC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		3192		chr19	TogoVar
POLRMT_chr19_612221_638537	614028	G G	GGGGGCGT others(27): Show GGGGGCGTGGCCGGGGCGGGTGCCCTGGCGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01433.hp2 HG02015.hp1 HG01175.hp2 HG01433.hp2 HG02015.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0002 a0011c0018t0002	a0011c0018t0002g0214 a0011c0018t0002g0215 a0011c0018t0002g0225 a0011c0018t0002g0214 a0011c0018t0002g0215 a0011c0018t0002g0225	3	422	0.0071	34	c.32 others(45): Show c.3245_*3246insACCCCCGCCAGGGCACCCGCCCCGGCCACGCCCC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		3192		chr19	TogoVar
POLRMT_chr19_612221_638537	614029	G G	GGGGCGTG others(27): Show GGGGCGTGGCCGGGGCGGGTGCCCTGGCGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0009 a0003c0002t0009	a0003c0002t0009g0173 a0003c0002t0009g0173	1	422	0.0024	34	c.32 others(45): Show c.3244_*3245insTTCCCCCGCCAGGGCACCCGCCCCGGCCACGCCC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		3191		chr19	TogoVar
POLRMT_chr19_612221_638537	614044	C C	CGGGTGCC others(27): Show CGGGTGCCCTGGCGGGGGAGGGCGTGGCCGGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0130 a0003c0002t0004g0130	1	422	0.0024	34	c.32 others(45): Show c.3229_*3230insCGCCCCGGCCACGCCCTCCCCCGCCAGGGCACCC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		3176		chr19	TogoVar
POLRMT_chr19_612221_638537	614044	C C	CGGGTGCC others(27): Show CGGGTGCCCTGGCGGGGGAGGGGCGTGGCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02258.hp2 others(7): Show HG02055.hp1 HG02109.hp1 HG02258.hp2 HG02622.hp2 HG02818.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp2 NA21309.hp1	a0001 a0002 a0017 others(1): Show a0001 a0002 a0017 a0028	a0001c0001 a0002c0013 a0017c0031 others(1): Show a0001c0001 a0002c0013 a0017c0031 a0028c0055	a0001c0001t0002 a0002c0013t0002 a0002c0013t0008 others(3): Show a0001c0001t0002 a0002c0013t0002 a0002c0013t0008 a0002c0013t0010 a0017c0031t0006 a0028c0055t0002	a0001c0001t0002g0008 a0002c0013t0002g0236 a0002c0013t0002g0270 others(7): Show a0001c0001t0002g0008 a0002c0013t0002g0236 a0002c0013t0002g0270 a0002c0013t0008g0342 a0002c0013t0008g0343 a0002c0013t0010g0273 a0002c0013t0010g0274 a0017c0031t0006g0340 a0017c0031t0006g0341 a0028c0055t0002g0190	10	422	0.0237	34	c.32 others(45): Show c.3229_*3230insACCCCGGCCACGCCCCTCCCCCGCCAGGGCACCC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		3176		chr19	TogoVar
POLRMT_chr19_612221_638537	626886	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0304 a0006c0008t0003g0304	1	422	0.0024	34	c.823 others(51): Show c.823-1633_823-1632insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	3/20			chr19	TogoVar
POMT1_chr9_131497918_131528799	131515767	A A	AACACAGG others(27): Show AACACAGGACACTTCCTCACACGGAGCACTTCCTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(208): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19057.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0006 a0008 a0010	a0001c0001 a0001c0004 a0001c0013 others(6): Show a0001c0001 a0001c0004 a0001c0013 a0001c0014 a0004c0008 a0005c0020 a0006c0011 a0008c0012 a0010c0017	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(10): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0004t0001 a0001c0013t0001 a0001c0014t0001 a0004c0008t0001 a0005c0020t0001 a0006c0011t0001 a0008c0012t0001 a0010c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0008g0041 a0001c0001t0009g0131 a0001c0001t0011g0139 a0001c0001t0015g0024 a0001c0004t0001g0001 a0001c0004t0001g0004 a0001c0004t0001g0014 a0001c0004t0001g0079 a0001c0004t0001g0081 a0001c0013t0001g0003 a0001c0014t0001g0030 a0004c0008t0001g0002 a0004c0008t0001g0003 a0005c0020t0001g0067 a0006c0011t0001g0132 a0008c0012t0001g0101 a0010c0017t0001g0123	211	334	0.6317	34	c.127 others(51): Show c.1272+248_1272+249insCAGGACACTTCCTCACACGGAGCACTTC CTCACA	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
POMT1_chr9_131497918_131528799	131516262	A A	ACACCTCC others(27): Show ACACCTCCTCACACGGAACACTTCCTCACACGGAG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	334	0.0030	34	c.127 others(51): Show c.1272+743_1272+744insCTCCTCACACGGAACACTTCCTCACACG GAGCAC	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
POMT1_chr9_131497918_131528799	131516300	T T	TTCCTCAC others(27): Show TTCCTCACACGGAGCACCTCCTCACACGGAGCACC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	334	0.0030	34	c.127 others(51): Show c.1272+794_1272+795insCTCCTCACACGGAGCACCTCCTCACACG GAGCAC	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
POMT1_chr9_131497918_131528799	131516300	T T	TTCCTCAC others(27): Show TTCCTCACACGGAGCACTTCCTCACACGGAACACC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19007.hp2 NA18966.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0162 a0001c0001t0001g0082 a0001c0001t0001g0162	2	334	0.0060	34	c.127 others(51): Show c.1272+808_1272+841dupACACCTCCTCACACGGAGCACTTCCTCA CACGGA	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
POMZP3_chr7_76604986_76632279	76620861	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18975.hp1 NA18963.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0062 a0001c0001t0005g0084 a0001c0001t0005g0062 a0001c0001t0005g0084	2	423	0.0047	34	c.228 others(51): Show c.228-2562_228-2561insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	3/6			chr7	TogoVar
POP1_chr8_98112293_98164835	98162381	G G	GGTAGTGA others(27): Show GGTAGTGAAAAAGAAAACAGCCTCATTACTTCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0341 a0001c0001t0002g0341	1	422	0.0024	34	c.41 others(45): Show c.4110_*4111insGTAGTGAAAAAGAAAACAGCCTCATTACTTCTGT	POP1	ENSG00000104356.11	transcript	ENST00000401707.7	protein_coding		2547		chr8	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 NA18956.hp2 HG03831.hp1 NA18956.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0001 a0001c0003t0003g0202 a0001c0003t0003g0001 a0001c0003t0003g0202	2	416	0.0048	34	c.47 others(45): Show c.4721_*4722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACAC	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding		465		chr21	TogoVar
PPA2_chr4_105364077_105479062	105460856	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0339 a0003c0007t0002g0339	1	366	0.0027	34	c.158 others(51): Show c.158-4112_158-4111insATATATATATATATATATATATATATAT ATATAT	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	1/11			chr4	TogoVar
PPA2_chr4_105364077_105479062	105460858	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG03098.hp2 HG02451.hp1 HG02723.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0085 a0001c0001t0002g0188 a0001c0001t0002g0039 a0001c0001t0002g0085 a0001c0001t0002g0188	3	366	0.0082	34	c.158 others(51): Show c.158-4114_158-4113insATATATATATATATATATATATATATAT ATATAT	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	1/11			chr4	TogoVar
PPARD_chr6_35337558_35433178	35377871	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	238	0.0042	34	c.-10 others(55): Show c.-102+30732_-102+30733insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPARD_chr6_35337558_35433178	35415778	C C	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0042 a0001c0002t0003g0042	1	238	0.0042	34	c.131 others(51): Show c.131-4324_131-4323insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPARGC1B_chr5_149725310_149860022	149734235	T T	TCGCTTGA others(27): Show TCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02647.hp2 others(5): Show HG02280.hp2 HG02572.hp1 HG02647.hp2 HG02818.hp1 HG03195.hp2 HG03486.hp1 HG03579.hp1 NA20129.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0006 a0008	a0001c0001 a0001c0017 a0004c0005 others(3): Show a0001c0001 a0001c0017 a0004c0005 a0005c0013 a0006c0007 a0008c0016	a0001c0001t0001 a0001c0017t0017 a0004c0005t0001 others(4): Show a0001c0001t0001 a0001c0017t0017 a0004c0005t0001 a0005c0013t0001 a0005c0013t0009 a0006c0007t0016 a0008c0016t0026	a0001c0001t0001g0010 a0001c0017t0017g0014 a0004c0005t0001g0011 others(5): Show a0001c0001t0001g0010 a0001c0017t0017g0014 a0004c0005t0001g0011 a0005c0013t0001g0013 a0005c0013t0009g0007 a0005c0013t0009g0008 a0006c0007t0016g0012 a0008c0016t0026g0009	8	320	0.0250	34	c.78+ others(49): Show c.78+3818_78+3851dupCTTGAACCCGGGAGGCGGAGGTTGCAGTGA GCCG	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149750453	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	320	0.0031	34	c.78+ others(51): Show c.78+20036_78+20069dupATATATATATATATATATATATATATAT ATATAT	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPFIA1_chr11_70265690_70389396	70277060	A A	ATTATAAT others(27): Show ATTATAATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG04228.hp1 HG02735.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0014 a0001c0003t0003 a0001c0003t0014	a0001c0003t0003g0030 a0001c0003t0014g0029 a0001c0003t0003g0030 a0001c0003t0014g0029	2	282	0.0071	34	c.264 others(51): Show c.264+4626_264+4627insATAATATATATATATATATATATATATA TTTTTT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA1_chr11_70265690_70389396	70279905	A A	ATGTGTGT others(27): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0016 a0001c0003t0003g0016	1	282	0.0036	34	c.264 others(51): Show c.264+7482_264+7483insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA3_chr19_49114544_49156026	49137628	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	362	0.0028	34	c.185 others(51): Show c.1854-547_1854-546insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	PPFIA3	ENSG00000177380.14	transcript	ENST00000334186.9	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPIG_chr2_169579351_169646406	169606591	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18999.hp1 NA18952.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0331 a0001c0001t0005g0337 a0001c0001t0005g0331 a0001c0001t0005g0337	2	382	0.0052	34	c.244 others(49): Show c.244+462_244+463insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	PPIG	ENSG00000138398.17	transcript	ENST00000260970.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPIL1_chr6_36849829_36879803	36859811	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	410	0.0024	34	c.212 others(51): Show c.212-3158_212-3157insCACACACACACACACACACACACACACA CACACA	PPIL1	ENSG00000137168.8	transcript	ENST00000373699.6	protein_coding	2/3			chr6	TogoVar
PPIL2_chr22_21661012_21702907	21664958	A A	AAAATACA others(27): Show AAAATACAAAAAATTAGCCTACTAAACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG02258.hp1 others(1): Show HG00621.hp2 HG00735.hp1 HG02258.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0277 a0001c0001t0003g0280 others(1): Show a0001c0001t0003g0233 a0001c0001t0003g0277 a0001c0001t0003g0280 a0001c0001t0003g0282	4	378	0.0106	34	c.-11 others(45): Show c.-1142_-1141insAAATACAAAAAATTAGCCTACTAAACACACACAC	PPIL2	ENSG00000100023.20	transcript	ENST00000398831.8	protein_coding		1053		chr22	TogoVar
PPIP5K2_chr5_103115301_103217799	103117581	T T	TATACACA others(27): Show TATACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0231 a0001c0002t0004g0231	1	284	0.0035	34	c.-31 others(45): Show c.-3192_-3191insATACACACACACACACACACACACACACACACAC	PPIP5K2	ENSG00000145725.21	transcript	ENST00000358359.8	protein_coding		2719		chr5	TogoVar
PPIP5K2_chr5_103115301_103217799	103117581	T T	TATATACA others(27): Show TATATACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0235 a0001c0002t0010g0235	1	284	0.0035	34	c.-31 others(45): Show c.-3192_-3191insATATACACACACACACACACACACACACACACAC	PPIP5K2	ENSG00000145725.21	transcript	ENST00000358359.8	protein_coding		2719		chr5	TogoVar
PPL_chr16_4877507_4942148	4920345	G G	GAGAGAAA others(27): Show GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00673.hp2 others(7): Show HG00438.hp1 HG00621.hp1 HG00673.hp2 HG02056.hp1 HG03195.hp1 HG03710.hp2 NA19062.hp2 NA19074.hp1 NA19088.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0002 a0002c0015 others(2): Show a0001c0001 a0002c0002 a0002c0015 a0003c0003 a0009c0012	a0001c0001t0001 a0002c0002t0002 a0002c0015t0002 others(2): Show a0001c0001t0001 a0002c0002t0002 a0002c0015t0002 a0003c0003t0002 a0009c0012t0002	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(7): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0002c0002t0002g0070 a0002c0002t0002g0332 a0002c0015t0002g0103 a0003c0003t0002g0074 a0009c0012t0002g0071 a0009c0012t0002g0072 a0009c0012t0002g0073	10	372	0.0269	34	c.63- others(49): Show c.63-9397_63-9396insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTCT	PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21			chr16	TogoVar
PPM1B_chr2_44163875_44236472	44167255	A A	AAAATACA others(27): Show AAAATACATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0341 a0001c0001t0001g0341	1	358	0.0028	34	c.-20 others(45): Show c.-2034_-2033insAAATACATATATATATATATATATATATATATAT	PPM1B	ENSG00000138032.21	transcript	ENST00000282412.9	protein_coding		1619		chr2	TogoVar
PPM1B_chr2_44163875_44236472	44205354	G G	GGTGTGTG others(27): Show GGTGTGTGTGTCGGGGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG03834.hp2 others(1): Show HG02280.hp2 HG02486.hp1 HG03834.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0001g0166 others(1): Show a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0172	4	358	0.0112	34	c.846 others(51): Show c.846+3319_846+3320insCGGGGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	PPM1B	ENSG00000138032.21	transcript	ENST00000282412.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPM1E_chr17_58750854_58990179	58785458	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19062.hp1 HG02486.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0291 a0001c0001t0005g0130 a0001c0001t0003g0291 a0001c0001t0005g0130	2	312	0.0064	34	c.464 others(53): Show c.464+29029_464+29030insTATATATATATATATATATATATATA TATATATA	PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PPM1J_chr1_112704998_112720332	112706474	A A	ACACACAC others(27): Show ACACACACCACACACACACACACACACCCCCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG03486.hp1 HG01517.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0003 a0001c0001t0001g0038	2	422	0.0047	34	c.36 others(45): Show c.3688_*3689insGTGTGGGGGTGTGTGTGTGTGTGTGTGGTGTGTG	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3523		chr1	TogoVar
PPM1L_chr3_160751231_161083902	160808383	C C	CTCTGTGT others(27): Show CTCTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	206	0.0049	34	c.399 others(53): Show c.399+51677_399+51678insCTGTGTGTGTGTGTGTGTGTGTGCGC GCGCGCAT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	160808387	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0118 a0001c0001t0024g0118	1	206	0.0049	34	c.399 others(53): Show c.399+51702_399+51703insCGCGCGCGCGCATGTGTGTGTGTGTG TGTGTGTG	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	160808387	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0102 a0001c0001t0008g0102	1	206	0.0049	34	c.399 others(53): Show c.399+51704_399+51705insCGCGCGCGCATGTGTGTGTGTGTGTG TGTGTGTG	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	160814550	C C	CACACACA others(27): Show CACACACACATATGTATGTATGTGTATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	206	0.0049	34	c.399 others(53): Show c.399+57876_399+57877insTACACACACATATGTATGTATGTGTA TATATATA	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	160944803	A A	ATATATTA others(27): Show ATATATTATATATATGTTATATAACATATATATGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02886.hp2 HG03579.hp2 HG02257.hp2 HG02886.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0009 a0001c0001t0010g0023 a0001c0001t0010g0151 a0001c0001t0010g0009 a0001c0001t0010g0023 a0001c0001t0010g0151	3	206	0.0146	34	c.400 others(53): Show c.400-16928_400-16927insTATATATATGTTATATAACATATATA TGTTATAT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP1R16B_chr20_38800697_38928024	38801531	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	244	0.0041	34	c.-43 others(45): Show c.-4363_-4362insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding		4165		chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38855982	A A	AGAGAGAG others(27): Show AGAGAGAGAGAAGGAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03453.hp1 HG03579.hp1 others(3): Show HG02280.hp2 HG03453.hp1 HG03579.hp1 HG06807.hp2 NA19054.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0003 a0001c0002t0009	a0001c0001t0001g0171 a0001c0001t0001g0240 a0001c0001t0006g0184 others(3): Show a0001c0001t0001g0171 a0001c0001t0001g0240 a0001c0001t0006g0184 a0001c0001t0006g0194 a0001c0002t0003g0106 a0001c0002t0009g0140	6	244	0.0246	34	c.250 others(53): Show c.250+19807_250+19808insGAGAGAGAGAAGGAGGAGGAGGAGGA GGAGGAGG	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	2/10			chr20	TogoVar
PPP1R2_chr3_195509428_195548325	195537481	T T	TTTTGTGT others(27): Show TTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0193 a0001c0001t0011g0193	1	388	0.0026	34	c.122 others(51): Show c.122+5422_122+5423insCACACACACACACACACACACACACACA CACAAA	PPP1R2	ENSG00000184203.8	transcript	ENST00000618156.5	protein_coding	1/5			chr3	TogoVar
PPP1R3F_chrX_49264793_49293090	49291316	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG03491.hp2 NA18945.hp1 others(3): Show HG02135.hp1 HG03491.hp2 NA18945.hp1 NA18953.hp1 NA19078.hp1 NA19081.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0005 a0001c0001t0001 a0006c0009t0005	a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0018 a0006c0009t0005g0125	6	288	0.0208	34	c.42 others(45): Show c.4226_*4227insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTG	PPP1R3F	ENSG00000049769.14	transcript	ENST00000055335.11	protein_coding		3227		chrX	TogoVar
PPP1R9A_chr7_94902594_95301400	95070610	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0127 a0001c0002t0003g0127	1	290	0.0035	34	c.139 others(55): Show c.1396-40648_1396-40647insTATATATATATATATATATATATA TATATACACA	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP1R9A_chr7_94902594_95301400	95070610	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0029 a0002c0001t0003g0029	1	290	0.0035	34	c.139 others(55): Show c.1396-40648_1396-40647insTATATATATATATATATATATATA TATATATACA	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP2R2B_chr5_146575742_146883757	146812815	A A	ATATGTAT others(27): Show ATATGTATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0123 a0001c0001t0005g0123	1	170	0.0059	34	c.70+ others(51): Show c.70+65186_70+65187insCATATATATATATATATATATATATATA TACATA	PPP2R2B	ENSG00000156475.19	transcript	ENST00000394411.9	protein_coding	2/9			chr5	TogoVar
PPP2R2B_chr5_146575742_146883757	146812815	A A	ATGTATAT others(27): Show ATGTATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG02083.hp1 others(1): Show HG00639.hp1 HG00735.hp1 HG02083.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012	a0001c0001t0006g0118 a0001c0001t0009g0117 a0001c0001t0012g0122 others(1): Show a0001c0001t0006g0118 a0001c0001t0009g0117 a0001c0001t0012g0122 a0001c0001t0012g0133	4	170	0.0235	34	c.70+ others(51): Show c.70+65186_70+65187insCATATATATATATATATATATATATATA TATACA	PPP2R2B	ENSG00000156475.19	transcript	ENST00000394411.9	protein_coding	2/9			chr5	TogoVar
PPP2R2D_chr10_131896008_131964834	131916821	T T	TCGGGTGG others(27): Show TCGGGTGGAATGACAGTGTTTGTAGGGACCTCAGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0306 a0001c0001t0019g0306	1	394	0.0025	34	c.100 others(53): Show c.100+15524_100+15557dupGGCGGGTGGAATGACAGTGTTTGTAG GGACCTCA	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results (Total: 7994 hits)