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
ANXA2R_chr5_43034371_43045319	43044078	A A	AAAATATA others(29): Show AAAATATATATTATATATAAAATATATATTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG01070.hp1 others(6): Show HG00099.hp1 HG00140.hp2 HG01070.hp1 HG01071.hp2 HG01175.hp2 HG01433.hp2 HG01515.hp2 HG03688.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	9	296	0.0304	36	c.-40 others(47): Show c.-4033_-4032insCATATATAATATATATTTTATATATAATATATAT TT	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3760		chr5	TogoVar
ANXA2_chr15_60342151_60402986	60344650	C C	CTCGCTCT others(29): Show CTCGCTCTTGCAGCAGAGTTTTCATTTTGGTAGTTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	334	0.0030	36	c.29 others(47): Show c.2979_*2980insTCAACTACCAAAATGAAAACTCTGCTGCAAGAGC GA	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding		2500		chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349853	T T	TGAAGGCA others(29): Show TGAAGGCAGGGAGGCAGGGGAAGGCAAGGAGGCAGGA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04204.hp1 HG02735.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0235 a0001c0001t0001g0236	2	334	0.0060	36	c.838 others(51): Show c.838-692_838-657dupTCCTGCCTCCTTGCCTTCCCCTGCCTCCCT GCCTTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350047	G G	GAGGGGAA others(29): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18747.hp1 HG00408.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0197 a0001c0001t0001g0198	2	334	0.0060	36	c.838 others(51): Show c.838-851_838-850insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350065	C C	CAGGGGAA others(29): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0285 a0001c0001t0004g0285	1	334	0.0030	36	c.838 others(51): Show c.838-904_838-869dupCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350083	G G	GAGGGGAA others(29): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	334	0.0030	36	c.838 others(51): Show c.838-887_838-886insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350119	G G	GAGGGGAA others(29): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	334	0.0030	36	c.838 others(51): Show c.838-958_838-923dupGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350155	C C	CAGGGGAA others(29): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp1 HG01346.hp2 others(18): Show HG00323.hp2 HG00673.hp1 HG01346.hp2 HG01358.hp2 HG02257.hp2 HG02602.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG03453.hp1 HG03540.hp1 HG04199.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18951.hp1 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0034 others(18): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0085 a0001c0001t0001g0146 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0231 a0001c0001t0001g0251 a0001c0001t0001g0258 a0001c0001t0001g0268 a0001c0001t0001g0293 a0001c0001t0003g0279 a0001c0001t0005g0225 a0002c0002t0001g0009 a0002c0002t0001g0048 a0002c0002t0001g0140	21	334	0.0629	36	c.838 others(51): Show c.838-959_838-958insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60399021	A A	AGAGAGAG others(29): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18989.hp2 NA18999.hp1 others(2): Show NA18966.hp2 NA18989.hp2 NA18999.hp1 NA18999.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0114 a0001c0001t0001g0187 others(2): Show a0001c0001t0001g0053 a0001c0001t0001g0114 a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0240	5	334	0.0150	36	c.-10 others(47): Show c.-1091_-1090insACTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding		1036		chr15	TogoVar
ANXA6_chr5_151095706_151162779	151140594	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	408	0.0025	36	c.19- others(49): Show c.19-352_19-351insAATATATATATATATATATATATATATATATA TATA	ANXA6	ENSG00000197043.15	transcript	ENST00000354546.10	protein_coding	2/25			chr5	TogoVar
AOAH_chr7_36507941_36729494	36517214	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0151 a0001c0009t0001g0151	1	306	0.0033	36	c.160 others(55): Show c.1600-3835_1600-3834insAAGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20			chr7	TogoVar
AOAH_chr7_36507941_36729494	36517262	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02055.hp2 HG03130.hp2 others(2): Show HG01516.hp2 HG02055.hp2 HG03130.hp2 HG03139.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0082 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0082 a0001c0001t0001g0122 a0001c0003t0001g0281	5	306	0.0163	36	c.160 others(55): Show c.1600-3883_1600-3882insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20			chr7	TogoVar
AOPEP_chr9_94721699_95092159	94743208	A A	AGAAGAGG others(29): Show AGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0011 a0001c0014t0001g0011	1	182	0.0055	36	c.-13 others(57): Show c.-135-16439_-135-16438insAGAGGAAGAAGAGGAAGAAGAGGA AGAAGAAGAGGA	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AOPEP_chr9_94721699_95092159	95073479	T T	TGGCTCCC others(29): Show TGGCTCCCGCCTGTAATCCCAGCAGGCCGGGCGCGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp2 HG02895.hp1 others(7): Show HG02109.hp2 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03516.hp2 HG03579.hp2 HG06807.hp2 NA18971.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0008 a0007c0006 a0001c0001 a0002c0008 a0007c0006	a0001c0001t0002 a0001c0001t0003 a0002c0008t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0002c0008t0003 a0007c0006t0003	a0001c0001t0002g0069 a0001c0001t0003g0060 a0001c0001t0003g0061 others(7): Show a0001c0001t0002g0069 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0107 a0001c0001t0003g0108 a0002c0008t0003g0136 a0007c0006t0003g0104 a0007c0006t0003g0106 a0007c0006t0003g0109 a0007c0006t0003g0112	10	182	0.0550	36	c.223 others(55): Show c.2233-7193_2233-7158dupCAGGCCGGGCGCGGGGGCTCCCGCCT GTAATCCCAG	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AP1M2_chr19_10567671_10592312	10585276	G G	GAAGAAAG others(29): Show GAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0034 a0001c0002t0004g0034	1	394	0.0025	36	c.43- others(51): Show c.43-1207_43-1206insTCTTTCTTTCTTTCCTTCTTTCTTTCTTTC TTTCTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0031 a0002c0003t0002g0031	1	226	0.0044	36	c.787 others(55): Show c.787-12109_787-12108insAAAAAAAAAAAATATATATATATATA TATATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78212280	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	226	0.0044	36	c.786 others(53): Show c.786+3774_786+3775insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3M1_chr10_74115255_74155828	74116522	T T	TTTATAAC others(29): Show TTTATAACCCAGGGTAGGAAATTCTACTCCTTCAGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0100 a0001c0001t0008g0100	1	334	0.0030	36	c.72 others(47): Show c.7287_*7288insGACTGAAGGAGTAGAATTTCCTACCCTGGGTTAT AA	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding		3732		chr10	TogoVar
AP4E1_chr15_50903683_51010895	50962889	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0364 a0001c0001t0004g0364	1	392	0.0026	36	c.185 others(55): Show c.1851+4122_1851+4123insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4S1_chr14_31020649_31101450	31096676	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG03209.hp2 HG02486.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0019 a0001c0001t0015 a0001c0001t0019	a0001c0001t0015g0263 a0001c0001t0019g0007 a0001c0001t0015g0263 a0001c0001t0019g0007	2	346	0.0058	36	c.36 others(47): Show c.3641_*3642insATATATATATATATATATATATATATATATATAT AT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding		227		chr14	TogoVar
AP5S1_chr20_3815547_3833838	3831665	G G	GTGTGTAT others(29): Show GTGTGTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	412	0.0024	36	c.73 others(47): Show c.7368_*7369insTGTGTATATATATATATATATATATATATATATA TA	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2828		chr20	TogoVar
APBB2_chr4_40805027_41219542	40982273	A A	AGAAGGAA others(29): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0187 a0002c0005t0006g0187	1	192	0.0052	36	c.835 others(55): Show c.835+31309_835+31310insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40982281	A A	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0068 a0001c0003t0014g0068	1	192	0.0052	36	c.835 others(55): Show c.835+31301_835+31302insCTTCCTTCCTTCCTTCCTTCTTTCTT TCTTTCTTTC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159907	A A	AAGGAGAA others(29): Show AAGGAGAAGGAGAAGGAGAAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0007 a0001c0003t0010g0007	1	192	0.0052	36	c.-41 others(57): Show c.-416-16766_-416-16765insCCTCCTCCTCCTCCTCCTTCTCCT TCTCCTTCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APCDD1L_chr20_58454101_58520399	58456235	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0158 a0002c0002t0008g0158	1	376	0.0027	36	c.45 others(47): Show c.4554_*4555insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	APCDD1L	ENSG00000198768.11	transcript	ENST00000371149.8	protein_coding		2865		chr20	TogoVar
APELA_chr4_164872178_164902527	164878196	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03516.hp2 HG04184.hp1 HG03239.hp2 HG03516.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0025 a0001c0002t0004 a0001c0001t0001 a0001c0001t0025 a0001c0002t0004	a0001c0001t0001g0206 a0001c0001t0025g0207 a0001c0002t0004g0208 a0001c0001t0001g0206 a0001c0001t0025g0207 a0001c0002t0004g0208	3	434	0.0069	36	c.77- others(49): Show c.77-697_77-696insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAA others(29): Show GGAAGGAAGGAAAGAAAGAAAAAGAAAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01934.hp2 HG01243.hp1 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0138 a0001c0002t0001g0196 a0001c0002t0001g0138 a0001c0002t0001g0196	2	432	0.0046	36	c.16+ others(51): Show c.16+5481_16+5482insTTTCTTTCTTTTTCTTTTTCTTTCTTTCCT TCCTTC	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAA others(29): Show GGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	432	0.0023	36	c.16+ others(51): Show c.16+5481_16+5482insTTTCTTTCTTTCTTTCTTTCTTTCTTTCCT TCCTTC	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGACAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01981.hp1 HG01257.hp2 HG01258.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0339 a0001c0002t0001g0018 a0001c0002t0001g0339	3	432	0.0069	36	c.16+ others(51): Show c.16+5481_16+5482insTTTCTTTCTTTCTTTCTGTCCTTCCTTCCT TCCTTC	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAA others(29): Show GGAAGGAAGGACAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03017.hp2 HG03209.hp2 HG01167.hp1 HG03017.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0002 a0001c0003t0001 a0002c0001t0002	a0001c0003t0001g0335 a0001c0003t0001g0359 a0002c0001t0002g0371 a0001c0003t0001g0335 a0001c0003t0001g0359 a0002c0001t0002g0371	3	432	0.0069	36	c.16+ others(51): Show c.16+5481_16+5482insTTTCTTTCTTTCTTTCTTTCTTTCTGTCCT TCCTTC	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAC others(29): Show GGAAGGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01884.hp2 HG03486.hp2 HG00544.hp2 HG01884.hp2 HG03486.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0352 a0002c0001t0001g0378 a0002c0001t0001g0396 a0002c0001t0001g0352 a0002c0001t0001g0378 a0002c0001t0001g0396	3	432	0.0069	36	c.16+ others(51): Show c.16+5481_16+5482insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTG TCCTTC	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC3B_chr22_38977347_38997779	38988685	C C	CTCTTTCT others(29): Show CTCTTTCTCTCTTTCTCTCTTTCTCTCTTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	354	0.0028	36	c.570 others(51): Show c.570-771_570-770insCTTTCTCTCTTTCTCTCTTTCTCTCTTCTC TCTCTT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOL3_chr22_36135329_36165755	36145972	G G	GTCTCCCT others(29): Show GTCTCCCTGTCTCTCTTTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0119	1	366	0.0027	36	c.11- others(49): Show c.11-374_11-373insGAGAGAGAGAGAGAGAGAGAAAGAGAGACAGG GAGA	APOL3	ENSG00000128284.20	transcript	ENST00000424878.4	protein_coding	2/3			chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 NA18988.hp2 HG04204.hp1 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0019 a0002c0002 a0002c0019	a0002c0002t0001 a0002c0019t0001 a0002c0002t0001 a0002c0019t0001	a0002c0002t0001g0001 a0002c0019t0001g0001 a0002c0002t0001g0001 a0002c0019t0001g0001	2	401	0.0050	36	c.-63 others(45): Show c.-637_-636insAAAAAAAAAAAAAAAAAAATATATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03834.hp1 NA19088.hp2 HG03017.hp2 HG03834.hp1 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0089 a0002c0002t0001g0001 a0002c0002t0001g0089	3	401	0.0075	36	c.-63 others(45): Show c.-637_-636insAAAAAAAAAAAAAAAAATATATATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	401	0.0025	36	c.-63 others(45): Show c.-637_-636insAAAAAAAAAAAAAAATATATATATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	401	0.0025	36	c.-63 others(45): Show c.-637_-636insAAAAAAAAAAATATATATATATATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOOL_chrX_84998877_85098315	85067637	C C	CACACACA others(29): Show CACACACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp1 HG03041.hp1 HG02055.hp1 HG02723.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0108 a0001c0001t0115 a0001c0001t0105 a0001c0001t0108 a0001c0001t0115	a0001c0001t0105g0217 a0001c0001t0108g0214 a0001c0001t0115g0215 a0001c0001t0105g0217 a0001c0001t0108g0214 a0001c0001t0115g0215	3	256	0.0117	36	c.486 others(51): Show c.486+449_486+450insACACATACACACACACACACACACACACAC ACACAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
APPL1_chr3_57222729_57278471	57262385	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	266	0.0038	36	c.184 others(55): Show c.1842+1636_1842+1637insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	APPL1	ENSG00000157500.12	transcript	ENST00000288266.8	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
AQP11_chr11_77584953_77615356	77596537	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02602.hp1 HG01070.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0193 a0001c0001t0001g0077 a0001c0001t0001g0193	2	432	0.0046	36	c.619 others(53): Show c.619+5952_619+5953insATATATATATATATATATATATATATAT ATATATAT	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARFGEF2_chr20_48916711_49041693	48918076	T T	TACATACA others(29): Show TACATACATATACATATACATATACATATACATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0317 a0001c0003t0001g0317	1	352	0.0028	36	c.-38 others(47): Show c.-3814_-3813insACATACATATACATATACATATACATATACATAT AC	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding		3634		chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	48918076	T T	TATATACA others(29): Show TATATACATATACATATACATATACATATACATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 NA18964.hp2 NA18983.hp1 others(2): Show HG00621.hp1 NA18964.hp2 NA18983.hp1 NA18987.hp1 NA18999.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0009 a0001c0003t0001 a0001c0003t0009	a0001c0003t0001g0045 a0001c0003t0001g0050 a0001c0003t0001g0056 others(2): Show a0001c0003t0001g0045 a0001c0003t0001g0050 a0001c0003t0001g0056 a0001c0003t0001g0058 a0001c0003t0009g0036	5	352	0.0142	36	c.-38 others(47): Show c.-3814_-3813insATATACATATACATATACATATACATATACATAT AC	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding		3634		chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	48963175	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0267 a0001c0005t0008g0267	1	352	0.0028	36	c.839 others(51): Show c.839-641_839-640insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	6/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFIP1_chr4_152774954_152917357	152799783	G G	GATTGACA others(29): Show GATTGACAGCCTAGCCAATGATGGGATTCATAAAAAT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	342	0.0029	36	c.-10 others(55): Show c.-10+19559_-10+19594dupTTGACAGCCTAGCCAATGATGGGATT CATAAAAATA	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFRP1_chr20_63693647_63712976	63693708	A A	AACTCCAC others(29): Show AACTCCACCACCTCCACCTCCACCTCCACCACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0047 a0001c0001t0007g0047	1	296	0.0034	36	c.67 others(47): Show c.6734_*6735insAGGTGGTGGTGGAGGTGGAGGTGGAGGTGGTGGA GT	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4938		chr20	TogoVar
ARFRP1_chr20_63693647_63712976	63693732	T T	TCCACCAC others(29): Show TCCACCACCACCTCCACCACCACCTCCTCCACCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 NA19010.hp1 NA19080.hp2 HG01361.hp1 NA19010.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0067 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0067	3	296	0.0101	36	c.67 others(47): Show c.6710_*6711insTGGAGGTGGAGGAGGTGGTGGTGGAGGTGGTGGT GG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4914		chr20	TogoVar
ARGFX_chr3_121562949_121595622	121576707	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0342 a0001c0001t0012g0343 a0001c0001t0012g0342 a0001c0001t0012g0343	2	410	0.0049	36	c.104 others(49): Show c.104-73_104-38dupCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARHGAP15_chr2_143124419_143773352	143673756	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	162	0.0062	36	c.113 others(57): Show c.1139-29662_1139-29661insATATATATATATATATATATATAT ATATATATATAT	ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP17_chr16_24914389_25020369	24961911	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	240	0.0042	36	c.574 others(53): Show c.574-1933_574-1932insTATATATATATATATATATATATATATA TATATATA	ARHGAP17	ENSG00000140750.17	transcript	ENST00000289968.11	protein_coding	7/19			chr16	TogoVar
ARHGAP18_chr6_129571132_129715177	129625054	T T	TATATGAT others(29): Show TATATGATATATATTTATATATAATATATATGATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00642.hp1 others(9): Show HG00140.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01175.hp2 HG01517.hp2 HG01981.hp1 HG02602.hp2 HG03654.hp1 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0002c0002t0018 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0018 a0003c0004t0005	a0001c0001t0001g0080 a0001c0001t0001g0108 a0001c0001t0001g0109 others(9): Show a0001c0001t0001g0080 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0179 a0001c0001t0001g0191 a0001c0001t0001g0204 a0002c0002t0001g0011 a0002c0002t0001g0016 a0002c0002t0018g0009 a0003c0004t0005g0088	12	238	0.0504	36	c.786 others(53): Show c.786+4298_786+4299insTATATCATATATATTATATATAAATATA TATCATAT	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar

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