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
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(28): Show ATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18522.hp1 HG01993.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0041 a0001c0001t0001g0010 a0001c0001t0001g0041	2	334	0.0060	35	c.313 others(52): Show c.313-2864_313-2863insATATATATATATATATATTTTTTTTTTT TTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(28): Show ATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0296 a0001c0001t0016g0296	1	334	0.0030	35	c.313 others(52): Show c.313-2864_313-2863insATATATTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655375	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02155.hp2 NA19009.hp1 HG02074.hp2 HG02155.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0045 a0001c0001t0002 a0001c0001t0045	a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0045g0099 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0045g0099	3	334	0.0090	35	c.313 others(52): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATATATA	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34			chr13	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	416	0.0024	35	c.-46 others(46): Show c.-4633_-4632insATATATATATATATATATATATATATATATATAT A	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18971.hp1 NA19080.hp1 HG00408.hp1 NA18971.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0045 a0001c0001t0001g0213 a0001c0001t0007g0044 a0001c0001t0001g0045 a0001c0001t0001g0213 a0001c0001t0007g0044	3	416	0.0072	35	c.163 others(50): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDXK_chr21_43714129_43767299	43741280	G G	GGGGGGGC others(28): Show GGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0170 a0001c0002t0019g0170	1	358	0.0028	35	c.143 others(50): Show c.143-358_143-357insGCTCGCGGGGGGCTCGCGGGGGGGCTCGCG GGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741303	C C	CGGGGGGC others(28): Show CGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	358	0.0028	35	c.143 others(50): Show c.143-347_143-346insCTCGCGGGGGGGCTCGCGGGGGGGCTCGCG GGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741303	C C	CGGGGGGG others(28): Show CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0112 a0001c0001t0056g0112	1	358	0.0028	35	c.143 others(50): Show c.143-358_143-357insGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741441	C C	CGGGGGGG others(28): Show CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0193 a0001c0002t0062g0193	1	358	0.0028	35	c.143 others(50): Show c.143-193_143-192insCAGGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD7_chr10_101002679_101036129	101017892	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	432	0.0023	35	c.152 others(52): Show c.1522+206_1522+207insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTT	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZRN4_chr12_41183320_41579745	41218962	A A	ACTAGGAA others(28): Show ACTAGGAATATTATTGTTCCTAAAATATTCCTAGAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG02886.hp1 others(2): Show HG00738.hp1 HG01109.hp2 HG02886.hp1 HG02976.hp1 HG06807.hp2	a0003 a0018 a0003 a0018	a0003c0006 a0018c0035 a0003c0006 a0018c0035	a0003c0006t0001 a0018c0035t0001 a0003c0006t0001 a0018c0035t0001	a0003c0006t0001g0095 a0003c0006t0001g0096 a0003c0006t0001g0097 others(2): Show a0003c0006t0001g0095 a0003c0006t0001g0096 a0003c0006t0001g0097 a0003c0006t0001g0098 a0018c0035t0001g0094	5	206	0.0243	35	c.843 others(54): Show c.843+24788_843+24822dupTGTTCCTAAAATATTCCTAGATCTAG GAATATTAT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77414161	T T	TTTCTCTT others(28): Show TTTCTCTTTCCTTCCTTTCCTTCTGTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 NA20752.hp1 HG00639.hp1 HG01081.hp1 NA20752.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0038 a0003c0003t0043 a0003c0003t0006 a0003c0003t0038 a0003c0003t0043	a0003c0003t0006g0175 a0003c0003t0038g0123 a0003c0003t0043g0176 a0003c0003t0006g0175 a0003c0003t0038g0123 a0003c0003t0043g0176	3	326	0.0092	35	c.-66 others(54): Show c.-666+5810_-666+5844dupGGAAGGAAAGACAGAAGGAAAGGAAG GAAAGAGAA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	1/9			chr15	TogoVar
PEBP1_chr12_118131124_118150584	118133194	A A	ATTATTTT others(28): Show ATTATTTTATTTTATTTTATTTTATTTTATTTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG01884.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0081 a0001c0001t0003g0024 a0001c0001t0003g0081	2	426	0.0047	35	c.-30 others(46): Show c.-3016_-3015insTTATTTTATTTTATTTTATTTTATTTTATTTTAT T	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding		2929		chr12	TogoVar
PEPD_chr19_33381950_33526791	33513870	A A	ACCCAGCC others(28): Show ACCCAGCCTCTGCAGAAATGCCCCTTTCCTACCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(141): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18967.hp2 NA18968.hp2 NA18983.hp2 NA18989.hp2 NA18990.hp2 NA18998.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19066.hp1 NA19068.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0002c0012 a0002c0013 a0003c0004 a0004c0006 a0006c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0002c0002t0002 a0002c0002t0005 a0002c0012t0002 a0002c0013t0002 a0003c0004t0001 a0004c0006t0001 a0006c0010t0002 a0006c0010t0005	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(138): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0155 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0004g0279 a0001c0003t0001g0007 a0001c0003t0001g0245 a0001c0003t0001g0250 a0001c0003t0001g0252 a0001c0003t0001g0280 a0001c0003t0001g0283 a0001c0003t0001g0285 a0001c0003t0001g0288 a0001c0003t0001g0297 a0001c0003t0001g0298 a0002c0002t0002g0006 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0043 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0172 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0259 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0282 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0005g0083 a0002c0002t0005g0171 a0002c0012t0002g0272 a0002c0013t0002g0011 a0003c0004t0001g0232 a0003c0004t0001g0233 a0003c0004t0001g0234 a0004c0006t0001g0169 a0004c0006t0001g0170 a0004c0006t0001g0173 a0004c0006t0001g0174 a0004c0006t0001g0175 a0004c0006t0001g0176 a0006c0010t0002g0040 a0006c0010t0005g0042	144	314	0.4586	35	c.18- others(50): Show c.18-1129_18-1095dupGTGGGTAGGAAAGGGGCATTTCTGCAGAGG CTGGG	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	1/14			chr19	TogoVar
PEX1_chr7_92482025_92533520	92516008	A A	AAAGAGAA others(28): Show AAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	310	0.0032	35	c.123 others(54): Show c.1239+1233_1239+1267dupCTCTTCTCTTCTCTTCTCTTCTCTTC TCTTCTCTT	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX1_chr7_92482025_92533520	92516055	A A	AGAGAAGA others(28): Show AGAGAAGAGAAGAGAAGAGAAGAGAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	2	310	0.0065	35	c.123 others(54): Show c.1239+1220_1239+1221insCTTTTCTTTTTTCTCTTCTCTTCTCT TCTCTTCTC	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX3_chr6_143445805_143495616	143455171	A A	ATTTTCTT others(28): Show ATTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	412	0.0024	35	c.74- others(50): Show c.74-3909_74-3875dupCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTT	PEX3	ENSG00000034693.15	transcript	ENST00000367591.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
PFKP_chr10_3062548_3141802	3134095	G G	GCCCATGA others(28): Show GCCCATGAATCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0009 a0001c0044t0009	a0001c0044t0009g0181 a0001c0044t0009g0181	1	402	0.0025	35	c.202 others(52): Show c.2023-375_2023-374insCCCCCCCCCCCCCCCCCCCCCCCCCATG AATCCCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425908	A A	ACCCGCCA others(28): Show ACCCGCCACCCGCCACCCGCCGCCCGCCGCCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	438	0.0023	35	c.-40 others(44): Show c.-400_-399insCCCGCCACCCGCCACCCGCCGCCCGCCGCCCGCCG	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		282		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425908	A A	ACCCGCCG others(28): Show ACCCGCCGCCCGCCGCCCGCCGCCCGCCGCCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG03471.hp2 NA18991.hp2 others(1): Show HG00609.hp2 HG03471.hp2 NA18991.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0012	4	438	0.0091	35	c.-40 others(44): Show c.-400_-399insCCCGCCGCCCGCCGCCCGCCGCCCGCCGCCCGCCG	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		282		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425912	G G	GCCACCCG others(28): Show GCCACCCGCCACCCGCCGCCCGCCGCCCTCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	438	0.0023	35	c.-39 others(44): Show c.-396_-395insCCACCCGCCACCCGCCGCCCGCCGCCCTCCGCCCT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		278		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425919	G G	GCCGCCCT others(28): Show GCCGCCCTCCGCCCTCCGCCCTCCGCCCTCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	438	0.0023	35	c.-38 others(44): Show c.-389_-388insCCGCCCTCCGCCCTCCGCCCTCCGCCCTCCGCCCT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		271		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCG others(28): Show GCCGCCCGCCGCCCGCCGCCCGCCGCCCGCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG02148.hp1 HG02165.hp2 others(2): Show HG00280.hp2 HG02148.hp1 HG02165.hp2 NA18612.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005	5	438	0.0114	35	c.-38 others(44): Show c.-382_-381insCCGCCCGCCGCCCGCCGCCCGCCGCCCGCCGCCCT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		264		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCG others(28): Show GCCGCCCGCCGCCCGCCGCCCGCCGCCCTCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 NA18612.hp2 HG03195.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0015	2	438	0.0046	35	c.-38 others(44): Show c.-382_-381insCCGCCCGCCGCCCGCCGCCCGCCGCCCTCCGCCCT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		264		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCG others(28): Show GCCGCCCGCCGCCCGCCGCCCTCCGCCCGCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	438	0.0023	35	c.-38 others(44): Show c.-382_-381insCCGCCCGCCGCCCGCCGCCCTCCGCCCGCCGCCCT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		264		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCG others(28): Show GCCGCCCGCCGCCCGCCGCCCTCCGCCCTCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02723.hp1 HG04228.hp2 others(1): Show HG02300.hp1 HG02723.hp1 HG04228.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015	4	438	0.0091	35	c.-38 others(44): Show c.-382_-381insCCGCCCGCCGCCCGCCGCCCTCCGCCCTCCGCCCT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		264		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCG others(28): Show GCCGCCCGCCGCCCTCCGCCCTCCGCCCTCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG03516.hp1 HG03834.hp1 others(1): Show HG00639.hp1 HG03516.hp1 HG03834.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0063 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0063 a0001c0001t0003g0035	4	438	0.0091	35	c.-38 others(44): Show c.-382_-381insCCGCCCGCCGCCCTCCGCCCTCCGCCCTCCGCCCT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		264		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCG others(28): Show GCCGCCCGCCGCCCTCCGCCCTCCGCCGTCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	438	0.0023	35	c.-38 others(44): Show c.-382_-381insCCGCCCGCCGCCCTCCGCCCTCCGCCGTCCGCCCT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		264		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCT others(28): Show GCCGCCCTCCGCCCTCCGCCCTCCGCCCTCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	438	0.0023	35	c.-38 others(44): Show c.-382_-381insCCGCCCTCCGCCCTCCGCCCTCCGCCCTCCGCCCT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		264		chr10	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 NA19030.hp2 HG02647.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0185 a0001c0001t0001g0188	2	376	0.0053	35	c.-35 others(46): Show c.-3543_-3542insATATATATATATATATTTTTTTTTTTTTTTTTTT T	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGBD2_chr1_248901235_248924146	248913976	T T	TATAACAG others(28): Show TATAACAGTTGGTGTCCAGGAAGTATAAAGGAAGAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0175 a0001c0003t0002g0175	1	422	0.0024	35	c.17+ others(47): Show c.17+98_17+132dupATAACAGTTGGTGTCCAGGAAGTATAAAGGAAG AA	PGBD2	ENSG00000185220.12	transcript	ENST00000329291.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PGM2_chr4_37821686_37867937	37852397	T T	TGGTTCCT others(28): Show TGGTTCCTCCACCTGGGCTGGGCCAGCTGCTTTCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(182): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp2 NA18997.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0005 a0002c0003 others(6): Show a0001c0001 a0001c0005 a0002c0003 a0002c0006 a0002c0007 a0002c0008 a0002c0009 a0002c0012 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0003t0008 a0002c0006t0003 a0002c0007t0001 a0002c0007t0002 a0002c0007t0003 a0002c0008t0001 a0002c0009t0003 a0002c0012t0002 a0005c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(157): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0002g0014 a0001c0001t0002g0386 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0006g0021 a0001c0001t0006g0133 a0001c0001t0006g0167 a0001c0001t0007g0043 a0001c0001t0007g0201 a0001c0005t0001g0168 a0001c0005t0002g0173 a0001c0005t0002g0202 a0001c0005t0002g0203 a0001c0005t0003g0169 a0002c0003t0001g0023 a0002c0003t0001g0037 a0002c0003t0001g0204 a0002c0003t0001g0211 a0002c0003t0001g0215 a0002c0003t0001g0216 a0002c0003t0001g0217 a0002c0003t0001g0218 a0002c0003t0001g0219 a0002c0003t0001g0230 a0002c0003t0001g0232 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0235 a0002c0003t0001g0236 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0003g0022 a0002c0003t0003g0024 a0002c0003t0003g0035 a0002c0003t0003g0206 a0002c0003t0003g0208 a0002c0003t0003g0209 a0002c0003t0003g0210 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0003t0003g0223 a0002c0003t0003g0225 a0002c0003t0003g0226 a0002c0003t0003g0227 a0002c0003t0003g0229 a0002c0003t0003g0231 a0002c0003t0003g0241 a0002c0003t0003g0242 a0002c0003t0003g0243 a0002c0003t0003g0245 a0002c0003t0003g0247 a0002c0003t0003g0248 a0002c0003t0006g0213 a0002c0003t0008g0038 a0002c0006t0003g0164 a0002c0006t0003g0265 a0002c0006t0003g0266 a0002c0006t0003g0267 a0002c0006t0003g0268 a0002c0006t0003g0380 a0002c0007t0001g0220 a0002c0007t0001g0228 a0002c0007t0002g0212 a0002c0007t0002g0214 a0002c0007t0003g0207 a0002c0008t0001g0239 a0002c0008t0001g0240 a0002c0008t0001g0244 a0002c0009t0003g0224 a0002c0009t0003g0246 a0002c0012t0002g0299 a0002c0012t0002g0300 a0005c0014t0001g0166	185	446	0.4148	35	c.160 others(54): Show c.1602+2028_1602+2029insCCTCCACCTGGGCTGGGCCAGCTGCT TTCTGGGTT	PGM2	ENSG00000169299.14	transcript	ENST00000381967.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PGM2_chr4_37821686_37867937	37862561	C C	CTCATAAT others(28): Show CTCATAATTCGTGGTCTTACAGCCTCCCATCTCGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0115 a0001c0002t0010g0115	1	446	0.0022	35	c.97 others(44): Show c.973_*974insCCCATCTCGTGTCATAATTCGTGGTCTTACAGCCT	PGM2	ENSG00000169299.14	transcript	ENST00000381967.9	protein_coding	14/14	974	INFO_REALIGN_3_PRIME	chr4	TogoVar
PHACTR1_chr6_12711767_13292837	13246421	G G	GATGGTTC others(28): Show GATGGTTCATTACAGCTGAGCAAAGTCTCATTAATC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	108	0.0093	35	c.139 others(56): Show c.1391+16231_1391+16265dupGGTTCATTACAGCTGAGCAAAGTC TCATTAATCAT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59668870	T T	TTTTTATT others(28): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02055.hp1 HG02895.hp1 others(1): Show HG00738.hp2 HG02055.hp1 HG02895.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0001 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0050 a0001c0001t0004g0148 a0001c0001t0004g0197 others(1): Show a0001c0001t0001g0050 a0001c0001t0004g0148 a0001c0001t0004g0197 a0001c0001t0010g0020	4	250	0.0160	35	c.118 others(54): Show c.118+63753_118+63787dupATTTTATTTTATTTTATTTTATTTTA TTTTATTTT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF20_chr20_35767015_35955370	35904767	C C	CTCCTCCT others(28): Show CTCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02080.hp2 HG02738.hp1 others(4): Show HG02004.hp1 HG02080.hp2 HG02738.hp1 NA18747.hp1 NA18984.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0002 a0002c0002t0003	a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0169 others(4): Show a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0169 a0002c0002t0002g0096 a0002c0002t0003g0097 a0002c0002t0003g0114 a0002c0002t0003g0132	7	206	0.0340	35	c.156 others(54): Show c.1561+5123_1561+5124insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCT	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF21A_chr11_45924319_46126454	45958419	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0032 a0001c0001t0008g0032	1	280	0.0036	35	c.997 others(52): Show c.997-4795_997-4794insATATATATATATATATATATATTTTTTT TTTTTTT	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	10/18			chr11	TogoVar
PHF3_chr6_63630802_63731011	63727725	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0286 a0001c0001t0025g0286	1	320	0.0031	35	c.14 others(48): Show c.14017_*14018insTATATATATATATATATATATATATATATATA TAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1715		chr6	TogoVar
PHKB_chr16_47456331_47706523	47616564	T T	TATATTTT others(28): Show TATATTTTACATATAAATATCATATATTAATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0004 a0007c0009t0001g0004	1	98	0.0102	35	c.145 others(54): Show c.1458+5679_1458+5713dupAATATTTTACATATAAATATCATATA TTAATATAT	PHKB	ENSG00000102893.18	transcript	ENST00000323584.10	protein_coding	14/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHLDB3_chr19_43470103_43509746	43487591	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	396	0.0025	35	c.115 others(52): Show c.1150-469_1150-468insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PHLDB3	ENSG00000176531.11	transcript	ENST00000292140.10	protein_coding	9/15			chr19	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0144	1	192	0.0052	35	c.157 others(56): Show c.1576+48817_1576+48818insTATATATATATATATATATATATA TATATATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16			chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849830	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	192	0.0052	35	c.190 others(56): Show c.1900-10605_1900-10604insTATATATATATATATATATATATA TATATATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16			chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849832	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0188 a0001c0005t0001g0188	1	192	0.0052	35	c.190 others(56): Show c.1900-10602_1900-10601insATATATATATATATATATATATAT ATATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849832	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02280.hp1 HG02922.hp2 others(1): Show HG00735.hp2 HG02280.hp1 HG02922.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0002c0006t0001 a0001c0001t0001 a0001c0001t0003 a0002c0006t0001	a0001c0001t0001g0026 a0001c0001t0003g0084 a0002c0006t0001g0163 others(1): Show a0001c0001t0001g0026 a0001c0001t0003g0084 a0002c0006t0001g0163 a0002c0006t0001g0164	4	192	0.0208	35	c.190 others(56): Show c.1900-10603_1900-10602insTATATATATATATATATATATATA TATATATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16			chr18	TogoVar
PI4K2A_chr10_97635671_97681434	97678999	G G	GTGTGTGT others(28): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	350	0.0029	35	c.52 others(46): Show c.5257_*5258insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG T	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2566		chr10	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0202 a0001c0001t0202	a0001c0001t0202g0080 a0001c0001t0202g0080	1	322	0.0031	35	c.50 others(46): Show c.5049_*5050insAAATATATATATATATATATATATATATATATAT A	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0181 a0001c0001t0181	a0001c0001t0181g0047 a0001c0001t0181g0047	1	322	0.0031	35	c.50 others(46): Show c.5049_*5050insAAAAAAATATATATATATATATATATATATATAT A	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0281 a0001c0001t0106g0281	1	322	0.0031	35	c.50 others(46): Show c.5049_*5050insAAAAAAAAATATATATATATATATATATATATAT A	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIBF1_chr13_72777133_73021461	72844748	C C	CACACACA others(28): Show CACACACACACACACACGGATGAAGTCTTACTGTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18940.hp1 NA18951.hp2 others(2): Show HG02056.hp1 NA18940.hp1 NA18951.hp2 NA18963.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0028 a0002c0002t0003g0035 a0002c0002t0003g0067 others(2): Show a0002c0002t0003g0028 a0002c0002t0003g0035 a0002c0002t0003g0067 a0002c0002t0003g0077 a0002c0002t0003g0080	5	346	0.0145	35	c.122 others(54): Show c.1224-9293_1224-9292insGGATGAAGTCTTACTGTTTACACACA CACACACAC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72844750	C C	CACACACA others(28): Show CACACACACACACACACGGATGAAGTCTTACTGTTT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0038 a0002c0002t0003g0038	1	346	0.0029	35	c.122 others(54): Show c.1224-9291_1224-9290insGGATGAAGTCTTACTGTTTACACACA CACACACAC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr13	TogoVar

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