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
PC_chr11_66843420_66963383	66873521	T T	TATATTAT others(35): Show TATATTATAATATATATTATATATAATATTATAATATTATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	274	0.0037	42	c.1-1 others(55): Show c.1-1404_1-1363dupTATATAATATTATAATATTATATATAATATAT ATTATAATAT	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding	3/22			chr11	TogoVar
PC_chr11_66843420_66963383	66903810	C C	CCACACAC others(35): Show CCACACACATATATACATACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03098.hp2 NA20300.hp2 HG01109.hp2 HG03098.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0243 a0001c0001t0001g0258 a0001c0001t0001g0259	3	274	0.0110	42	c.1-3 others(57): Show c.1-31652_1-31651insTGTGTGTGTGTGTGTGTGTGTGTGTATGTA TATATGTGTGTG	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding	3/22			chr11	TogoVar
PDCD6_chr5_266646_319974	298658	T T	TCAGCTGC others(35): Show TCAGCTGCTCCCACTCAGCTGCTCCCACTCAGCTGCTCCCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(94): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02135.hp2 HG02148.hp2 HG02559.hp1 HG02683.hp1 HG02698.hp1 HG03017.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18941.hp1 NA18943.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp2 NA18978.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp1 NA18990.hp1 NA18994.hp2 NA19002.hp2 NA19006.hp2 NA19009.hp1 NA19011.hp2 NA19056.hp1 NA19064.hp1 NA19066.hp2 NA19076.hp1 NA19083.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0001t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 others(88): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0006g0204 a0001c0001t0006g0221 a0001c0001t0006g0229 a0001c0002t0001g0213	97	360	0.2694	42	c.164 others(59): Show c.164-5480_164-5479insCCCCAGCTGCTCCCACTCAGCTGCTCCC ACTCAGCTGCTCCC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	298672	T T	TCAGCTGC others(35): Show TCAGCTGCTCCCACTCAGCTGCTCCCCCCCAGCTGCTCCCCCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	360	0.0028	42	c.164 others(59): Show c.164-5480_164-5479insCCCCAGCTGCTCCCCCCCAGCTGCTCCC ACTCAGCTGCTCCC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	298686	T T	TCAGCTGC others(35): Show TCAGCTGCTCCCCCCCAGCTGCTCCCACTCAGCTGCTCCCACC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0290 a0002c0004t0003g0290	1	360	0.0028	42	c.164 others(59): Show c.164-5480_164-5479insCCCCAGCTGCTCCCACTCAGCTGCTCCC ACCCAGCTGCTCCC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	299094	C C	CCCCCAGC others(35): Show CCCCCAGCTGCTCCCCCCAGCTGCTCCCCCCCAGCTGCTCTCA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0293 a0002c0003t0001g0293	1	360	0.0028	42	c.164 others(59): Show c.164-5080_164-5079insCAGCTGCTCCCCCCAGCTGCTCCCCCCC AGCTGCTCTCACCC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	299137	C C	CCCAGCTG others(35): Show CCCAGCTGCTCCCCCCCAGCTGCTCCCCCTCAGCTGCTCCCAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00733.hp2 others(63): Show HG00140.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01169.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01891.hp2 HG01952.hp2 HG01975.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18965.hp2 NA18970.hp2 NA18983.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19081.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0002c0003t0001 others(4): Show a0001c0001t0002 a0001c0001t0003 a0002c0003t0001 a0002c0003t0007 a0002c0004t0002 a0002c0004t0003 a0003c0005t0004	a0001c0001t0002g0008 a0001c0001t0002g0065 a0001c0001t0002g0066 others(61): Show a0001c0001t0002g0008 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0003g0070 a0002c0003t0001g0274 a0002c0003t0001g0277 a0002c0003t0001g0278 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0288 a0002c0003t0001g0289 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0294 a0002c0003t0001g0295 a0002c0003t0001g0296 a0002c0003t0001g0297 a0002c0003t0001g0299 a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0304 a0002c0003t0007g0287 a0002c0004t0002g0269 a0002c0004t0003g0265 a0002c0004t0003g0266 a0002c0004t0003g0267 a0002c0004t0003g0268 a0002c0004t0003g0275 a0002c0004t0003g0276 a0002c0004t0003g0279 a0002c0004t0003g0280 a0002c0004t0003g0281 a0002c0004t0003g0282 a0002c0004t0003g0290 a0002c0004t0003g0298 a0003c0005t0004g0020 a0003c0005t0004g0305 a0003c0005t0004g0306 a0003c0005t0004g0307 a0003c0005t0004g0308 a0003c0005t0004g0309	66	360	0.1833	42	c.164 others(59): Show c.164-5023_164-5022insGCTGCTCCCCCTCAGCTGCTCCCATCCA GCTGCTCCCCCCCA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE3B_chr11_14638804_14877044	14749899	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp2 HG02258.hp2 others(7): Show HG01243.hp1 HG01255.hp2 HG02258.hp2 HG02683.hp2 HG03654.hp1 NA18944.hp2 NA19004.hp2 NA19081.hp1 NA19084.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0005t0002	a0001c0001t0001g0105 a0001c0001t0001g0122 a0001c0001t0001g0126 others(7): Show a0001c0001t0001g0105 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0313 a0001c0001t0002g0019 a0001c0001t0002g0288 a0001c0001t0002g0293 a0001c0001t0006g0046 a0001c0005t0002g0018	10	332	0.0301	42	c.979 others(61): Show c.979-22024_979-22023insATATATATATATATATATATATATAT ATATATATATATATAT	PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDE3B_chr11_14638804_14877044	14749910	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03041.hp2 HG02886.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0203 a0001c0001t0001g0053 a0001c0001t0001g0203	2	332	0.0060	42	c.979 others(61): Show c.979-22024_979-22023insATATATATATATATATATATATATAT ATATATATATATGTAT	PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDE6B_chr4_620573_675782	635345	G G	GCCTGCCT others(35): Show GCCTGCCTGCCTGCCCGCGTGTTCTGTGCCACGCGTCTGCCTC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18973.hp1 NA19009.hp1 NA18939.hp1 NA18973.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0241 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0241	3	308	0.0097	42	c.622 others(57): Show c.622-518_622-477dupCGTGTTCTGTGCCACGCGTCTGCCTCCCTG CCTGCCTGCCCG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	635529	G G	GCCTGCCT others(35): Show GCCTGCCTGCCTGCCCGCGTGTTCTGTGCCACGCGTCTGCCTC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	308	0.0033	42	c.622 others(57): Show c.622-322_622-281dupCACGCGTCTGCCTCCCTGCCTGCCTGCCCG CGTGTTCTGTGC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6G_chr17_81645459_81661542	81657309	A A	ACCTAAAT others(35): Show ACCTAAATTTCTTCCTGAGGGGCCTGGAGGAGGCTATGCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	434	0.0023	42	c.-91 others(51): Show c.-918_-877dupATGGGCATAGCCTCCTCCAGGCCCCTCAGGAAGAAA TTTAGG	PDE6G	ENSG00000185527.12	transcript	ENST00000331056.10	protein_coding		768		chr17	TogoVar
PDE7B_chr6_135846701_136200574	135928441	A A	ATATTTAT others(35): Show ATATTTATTTATTTATATATATATATTTATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp1 NA19240.hp2 HG01891.hp2 HG02559.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0005g0087 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0005g0087	3	142	0.0211	42	c.22- others(59): Show c.22-19020_22-19019insTTATTTATTTATATATATATATTTATAT ATATATTTATTTAT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDGFA_chr7_492258_524846	511383	C C	CAGGGGCA others(35): Show CAGGGGCAGAGGGGAACTTAGTCCAGGTGCGGCCAGTGGCTGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02293.hp1 NA19009.hp1 HG01496.hp1 HG02293.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0030 a0001c0002t0002 a0001c0002t0008 a0001c0002t0030	a0001c0002t0002g0050 a0001c0002t0008g0097 a0001c0002t0030g0049 a0001c0002t0002g0050 a0001c0002t0008g0097 a0001c0002t0030g0049	3	302	0.0099	42	c.266 others(57): Show c.266-388_266-387insCCAGCCACTGGCCGCACCTGGACTAAGTTC CCCTCTGCCCCT	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	3/5			chr7	TogoVar
PDGFA_chr7_492258_524846	511383	C C	CGGGGGCA others(35): Show CGGGGGCAGAGGGGAACTTAGTCCAGGTGCGGCCAGTGGCTGG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0031 a0001c0002t0010g0031	1	302	0.0033	42	c.266 others(57): Show c.266-388_266-387insCCAGCCACTGGCCGCACCTGGACTAAGTTC CCCTCTGCCCCC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	3/5			chr7	TogoVar
PDGFC_chr4_156755454_156976799	156825584	T T	TAAGAAGA others(35): Show TAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0170 a0001c0001t0004g0170	1	208	0.0048	42	c.315 others(61): Show c.315-14568_315-14567insCTTCTTCTTCTCCTTCTTCTTCTTCT TCTTCTTCTTCTTCTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFRL_chr8_17572216_17648144	17577082	T T	TAAAAAAA others(35): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	400	0.0025	42	c.-17 others(51): Show c.-171_-170insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding		133		chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	400	0.0025	42	c.353 others(57): Show c.353+491_353+492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDIA5_chr3_123062025_123167104	123117374	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0098 a0001c0003t0001g0098	1	332	0.0030	42	c.609 others(59): Show c.609+1101_609+1102insATATATATATATATATATATATATATAT ATATATATATATAT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDLIM2_chr8_22575475_22599298	22599271	T T	TTCCTCGC others(35): Show TTCCTCGCCCCTCCCCTCCCTCTCCTCGCCCCTCCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18956.hp2 NA18970.hp1 others(6): Show NA18951.hp2 NA18956.hp2 NA18970.hp1 NA18974.hp1 NA18986.hp2 NA18993.hp1 NA18998.hp2 NA19010.hp1 NA19060.hp1	a0003 a0003	a0003c0005 a0003c0007 a0003c0005 a0003c0007	a0003c0005t0002 a0003c0007t0002 a0003c0005t0002 a0003c0007t0002	a0003c0005t0002g0182 a0003c0005t0002g0214 a0003c0005t0002g0225 others(5): Show a0003c0005t0002g0182 a0003c0005t0002g0214 a0003c0005t0002g0225 a0003c0005t0002g0234 a0003c0005t0002g0239 a0003c0005t0002g0258 a0003c0007t0002g0033 a0003c0007t0002g0262	9	380	0.0237	42	c.53 others(53): Show c.5361_*5362insTCCTCGCCCCTCCCCTCCCTCTCCTCGCCCCTCC CCTCCCTC	PDLIM2	ENSG00000120913.24	transcript	ENST00000409417.6	protein_coding		4974		chr8	TogoVar
PDS5B_chr13_32581452_32783019	32655359	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	334	0.0030	42	c.313 others(59): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATATATATATATAT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATTTTT others(35): Show ATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0060	1	334	0.0030	42	c.313 others(59): Show c.313-2864_313-2863insATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	416	0.0024	42	c.-46 others(53): Show c.-4633_-4632insTATATATATATATATATATATATATATATATATA TATATATA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDSS2_chr6_107147562_107464564	107458412	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0241 a0001c0001t0007g0241	1	260	0.0039	42	c.296 others(57): Show c.296+577_296+578insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PEA15_chr1_160200384_160220372	160203235	A A	AGCCCATA others(35): Show AGCCCATAAATAATAAACATTATATATATATTTTTGAGATGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	372	0.0027	42	c.-22 others(53): Show c.-2290_-2289insGCCCATAAATAATAAACATTATATATATATTTTT GAGATGAT	PEA15	ENSG00000162734.13	transcript	ENST00000360472.9	protein_coding		2148		chr1	TogoVar
PEAK1_chr15_77103158_77425104	77250205	A A	ATATATGT others(35): Show ATATATGTATATGTATATATATACATATATATACATATATATG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0011 a0005c0006t0011	a0005c0006t0011g0203 a0005c0006t0011g0203	1	326	0.0031	42	c.-11 others(61): Show c.-115+2161_-115+2162insCATATATATGTATATATATGTATATA TATACATATACATATA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PERP_chr6_138083505_138112419	138086314	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	430	0.0023	42	c.57 others(53): Show c.5727_*5728insATATATATATATATATATATATATATATATATAT ATATATAT	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding		2190		chr6	TogoVar
PFDN1_chr5_140240035_140308101	140303637	T T	TCATCTCA others(35): Show TCATCTCAAACGTACTCAGAATCTTTGAGAATGGGGTCTGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	330	0.0030	42	c.-56 others(51): Show c.-565_-564insTTCCAGACCCCATTCTCAAAGATTCTGAGTACGTTT GAGATG	PFDN1	ENSG00000113068.10	transcript	ENST00000261813.9	protein_coding		537		chr5	TogoVar
PFKP_chr10_3062548_3141802	3106602	T T	TGCCCCTT others(35): Show TGCCCCTTCACCCCTGCCACTGCCCCTTCACCCCTGCCACTGC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	402	0.0025	42	c.775 others(57): Show c.775-612_775-611insGCCCCTTCACCCCTGCCACTGCCCCTTCAC CCCTGCCACTGC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21			chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425908	A A	ACCCGCCA others(35): Show ACCCGCCACCCGCCGCCCGCCGCCCGCCGCCCGCCGCCCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	438	0.0023	42	c.-40 others(51): Show c.-400_-399insCCCGCCACCCGCCGCCCGCCGCCCGCCGCCCGCCGC CCTCCG	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		282		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425908	A A	ACCCGCCG others(35): Show ACCCGCCGCCCGCCGCCCGCCGCCCGCCGCCCGCCGCCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 NA19075.hp1 HG00733.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0003 a0001c0001t0001g0032	2	438	0.0046	42	c.-40 others(51): Show c.-400_-399insCCCGCCGCCCGCCGCCCGCCGCCCGCCGCCCGCCGC CCGCCG	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		282		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCG others(35): Show GCCGCCCGCCGCCCGCCGCCCGCCGCCCGCCGCCCGCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	438	0.0023	42	c.-38 others(51): Show c.-382_-381insCCGCCCGCCGCCCGCCGCCCGCCGCCCGCCGCCCGC CGCCCT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		264		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCG others(35): Show GCCGCCCGCCGCCCGCCGCCCGCCGCCCGCCGCCCTCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 NA18975.hp1 NA18975.hp2 others(2): Show HG01952.hp2 NA18975.hp1 NA18975.hp2 NA19002.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0002 a0001c0001t0001g0026	5	438	0.0114	42	c.-38 others(51): Show c.-382_-381insCCGCCCGCCGCCCGCCGCCCGCCGCCCGCCGCCCTC CGCCCT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		264		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCG others(35): Show GCCGCCCGCCGCCCGCCGCCCGCCGCCCTCCGCCCTCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00438.hp1 NA18522.hp2 others(1): Show HG00099.hp2 HG00438.hp1 NA18522.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008	4	438	0.0091	42	c.-38 others(51): Show c.-382_-381insCCGCCCGCCGCCCGCCGCCCGCCGCCCTCCGCCCTC CGCCCT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		264		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCG others(35): Show GCCGCCCGCCGCCCGCCGCCCTCCGCCCTCCGCCCTCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	438	0.0023	42	c.-38 others(51): Show c.-382_-381insCCGCCCGCCGCCCGCCGCCCTCCGCCCTCCGCCCTC CGCCCT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		264		chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425926	G G	GCCGCCCG others(35): Show GCCGCCCGCCGCCCTCCGCCCTCCGCCCTCCGCCCTCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG03834.hp2 HG01515.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	2	438	0.0046	42	c.-38 others(51): Show c.-382_-381insCCGCCCGCCGCCCTCCGCCCTCCGCCCTCCGCCCTC CGCCCT	PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding		264		chr10	TogoVar
PGAP6_chr16_365788_386978	378516	T T	TGCCATCG others(35): Show TGCCATCGCCACCCGCACTGCCATCGCCACCCACACTGCCATC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0020 a0004c0006t0001g0020	1	376	0.0027	42	c.122 others(57): Show c.122-669_122-668insGATGGCAGTGTGGGTGGCGATGGCAGTGCG GGTGGCGATGGC	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PGC_chr6_41731711_41752397	41738181	T T	TATATATA others(35): Show TATATATATACATATATATGCATATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	464	0.0022	42	c.916 others(57): Show c.916-354_916-353insGTATATATATATGTATATATATGCATATAT ATGTATATATAT	PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8			chr6	TogoVar
PGC_chr6_41731711_41752397	41738181	T T	TATATATA others(35): Show TATATATATGCATATATATGCATATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	464	0.0022	42	c.916 others(57): Show c.916-354_916-353insGTATATATATATGTATATATATGCATATAT ATGCATATATAT	PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8			chr6	TogoVar
PGLYRP3_chr1_153292116_153317952	153297561	A A	AGGAAAGA others(35): Show AGGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAGAAGAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG03195.hp1 HG02145.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0047 a0002c0002t0047	a0002c0002t0047g0037 a0002c0002t0047g0037	2	434	0.0046	42	c.39 others(51): Show c.394_*395insCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTCC	PGLYRP3	ENSG00000159527.4	transcript	ENST00000683862.1	protein_coding	8/8	394		chr1	TogoVar
PHACTR1_chr6_12711767_13292837	13284537	A A	AATATATA others(35): Show AATATATATATATATATATATATATAGATACACGTATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	108	0.0093	42	c.165 others(59): Show c.1650+976_1650+977insTATATATATATATATATATATATAGATA CACGTATATATATA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59635194	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG02683.hp1 HG01081.hp2 HG01109.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0002g0240 a0001c0001t0003g0090 a0001c0001t0001g0019 a0001c0001t0002g0240 a0001c0001t0003g0090	3	250	0.0120	42	c.118 others(61): Show c.118+30063_118+30064insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHETA1_chr12_111355679_111374095	111370987	C C	CAAGGTCG others(35): Show CAAGGTCGAACCAAGCAAAGAATTTCTATAACACTAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0016 a0002c0002t0007g0016	1	380	0.0026	42	c.-22 others(53): Show c.-2258_-2257insTCTTTCTTAGTGTTATAGAAATTCTTTGCTTGGT TCGACCTT	PHETA1	ENSG00000198324.14	transcript	ENST00000683047.1	protein_coding		1893		chr12	TogoVar
PHF12_chr17_28900250_28956518	28923653	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	232	0.0043	42	c.715 others(57): Show c.715+255_715+256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	PHF12	ENSG00000109118.14	transcript	ENST00000332830.9	protein_coding	4/14			chr17	TogoVar
PHF14_chr7_10968872_11174618	11122337	A A	ATATATAT others(35): Show ATATATATATATATATATATGTATATATGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	298	0.0034	42	c.277 others(63): Show c.2772+10886_2772+10887insTATGTATATATGTATATATATATA TGTATATATATATATATA	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF14_chr7_10968872_11174618	11122352	T T	TATATATA others(35): Show TATATATATATATATATATATATATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	298	0.0034	42	c.277 others(63): Show c.2772+10886_2772+10887insTATATATATATATATATATATATA TACACACACACACACACA	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF14_chr7_10968872_11174618	11122352	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02559.hp2 HG02080.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0244 a0001c0002t0001g0098 a0001c0001t0001g0244 a0001c0002t0001g0098	2	298	0.0067	42	c.277 others(63): Show c.2772+10886_2772+10887insTATATATATATATATATATATATA TATACACACACACACACA	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF3_chr6_63630802_63731011	63727737	A A	AAAATATA others(35): Show AAAATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0029 a0003c0004t0029	a0003c0004t0029g0295 a0003c0004t0029g0295	1	320	0.0031	42	c.14 others(55): Show c.14029_*14030insAAATATATATATATATATATATATATATATAT ATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1727		chr6	TogoVar
PHLDB2_chr3_111854265_111981517	111866014	A A	ATTTTTTT others(35): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0211 a0001c0004t0001g0211	1	286	0.0035	42	c.-15 others(59): Show c.-15+6462_-15+6463insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	PHLDB2	ENSG00000144824.21	transcript	ENST00000431670.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PHRF1_chr11_571470_617222	600493	A A	AATAAATA others(35): Show AATAAATAAATAAATAAATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG02630.hp2 others(2): Show HG02145.hp2 HG02451.hp2 HG02630.hp2 NA18906.hp1 NA19240.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0004 a0006c0008t0010 a0006c0008t0004 a0006c0008t0010	a0006c0008t0004g0080 a0006c0008t0004g0081 a0006c0008t0004g0121 others(2): Show a0006c0008t0004g0080 a0006c0008t0004g0081 a0006c0008t0004g0121 a0006c0008t0004g0247 a0006c0008t0010g0068	5	279	0.0179	42	c.102 others(61): Show c.1025-1078_1025-1077insAATAAATAAATAAATATACATATATA TATATATATATATATA	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr11	TogoVar

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Search Results (Total: 5093 hits)