Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ANXA2R_chr5_43034371_43045319	43043831	A A	ATTATATA others(20): Show ATTATATATAAAATATATTATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	215	0.0047	27	c.-37 others(38): Show c.-3786_-3785insATTATATATAATATATTTTATATATAA	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3513		chr5	TogoVar
ANXA2_chr15_60342151_60402986	60399021	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG04199.hp1 NA19056.hp2 HG01071.hp2 HG04199.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0177 a0001c0001t0001g0199 a0001c0001t0001g0155 a0001c0001t0001g0177 a0001c0001t0001g0199	3	140	0.0214	27	c.-10 others(38): Show c.-1091_-1090insACTCCTCTCTCTCTCTCTCTCTCTCTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding		1036		chr15	TogoVar
ANXA2_chr15_60342151_60402986	60399021	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	138	0.0072	27	c.-10 others(38): Show c.-1091_-1090insACTCCCCTCTCTCTCTCTCTCTCTCTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding		1036		chr15	TogoVar
AOX1_chr2_200581014_200676495	200657165	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18944.hp1 NA18944.hp2 HG02015.hp2 NA18944.hp1 NA18944.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0022 a0001c0001t0001g0222 a0002c0002t0002g0347 a0001c0001t0001g0022 a0001c0001t0001g0222 a0002c0002t0002g0347	3	244	0.0123	27	c.317 others(44): Show c.3171+229_3171+230insAAAAAAAAAAATATATATATATATATA	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP1B1_chr22_29322680_29393570	29390582	T T	TTTTATTT others(20): Show TTTTATTTATTTTTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03130.hp1 HG06807.hp2 others(1): Show HG02970.hp1 HG03130.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0004t0002 a0001c0001t0006 a0001c0004t0002	a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0006g0020 others(1): Show a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0004t0002g0021	4	179	0.0223	27	c.-21 others(38): Show c.-2187_-2186insTAAATAAATAAATAAAAAATAAATAAA	AP1B1	ENSG00000100280.17	transcript	ENST00000357586.7	protein_coding		2013		chr22	TogoVar
AP1M2_chr19_10567671_10592312	10570547	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18951.hp2 NA18969.hp1 others(3): Show NA18947.hp2 NA18951.hp2 NA18969.hp1 NA19003.hp2 NA19076.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0021 a0001c0002t0002g0022 others(3): Show a0001c0002t0002g0013 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0100 a0001c0002t0002g0147 a0001c0002t0002g0148	6	14	0.4286	27	c.25 others(38): Show c.2518_*2519insTTTTTTTTTTTTTTTTTTTTTTTTTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding		2123		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10585255	G G	GGAAAGAA others(20): Show GGAAAGAAAGAAAGAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0041 a0001c0002t0004g0041	1	388	0.0026	27	c.43- others(42): Show c.43-1186_43-1185insTTTCTTTCTTTCTTCTTTCTTTCTTTC	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP1S2_chrX_15820806_15859813	15834479	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	254	0.0039	27	c.427 others(44): Show c.427-6280_427-6279insTATATATATATATATATATATATATAT	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	4/5			chrX	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0143 a0001c0002t0002g0143	1	111	0.0090	27	c.787 others(46): Show c.787-12109_787-12108insAAAAAAAAATATATATATATATATAT A	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	111	0.0090	27	c.787 others(46): Show c.787-12109_787-12108insAAAAAAAAAAATATATATATATATAT A	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3S2_chr15_89825599_89898994	89854809	C C	CCGGCCGC others(20): Show CCGGCCGCCCCTACTGGGAAGTGAGGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp2 HG02622.hp2 HG01109.hp1 HG01261.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0043 a0001c0001t0002 a0001c0001t0043	a0001c0001t0002g0192 a0001c0001t0002g0257 a0001c0001t0043g0184 a0001c0001t0002g0192 a0001c0001t0002g0257 a0001c0001t0043g0184	3	310	0.0097	27	c.345 others(46): Show c.345+16665_345+16666insCTCCTCACTTCCCAGTAGGGGCGGCC G	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP4E1_chr15_50903683_51010895	50962889	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0338 a0001c0001t0009g0338	1	135	0.0074	27	c.185 others(46): Show c.1851+4096_1851+4122dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
APAF1_chr12_98640290_98740433	98653689	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	1	243	0.0041	27	c.526 others(44): Show c.526+4005_526+4006insTATATATATATATATATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26			chr12	TogoVar
APAF1_chr12_98640290_98740433	98665278	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02071.hp2 HG03688.hp2 others(1): Show HG01255.hp1 HG02071.hp2 HG03688.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0119 a0001c0001t0003g0133 a0001c0001t0004g0175 others(1): Show a0001c0001t0003g0119 a0001c0001t0003g0133 a0001c0001t0004g0175 a0001c0001t0004g0186	4	217	0.0184	27	c.956 others(42): Show c.956-274_956-273insATATATATATATATATATATATATATT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98665279	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0174 a0001c0001t0004g0174	1	355	0.0028	27	c.956 others(42): Show c.956-274_956-273insATATATATATATATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	7/26			chr12	TogoVar
APBB1IP_chr10_26433341_26572803	26516543	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0321 a0001c0001t0002g0321	1	26	0.0385	27	c.813 others(44): Show c.813+2901_813+2902insAAAAAAAAAAAAAAAAAAAAAAAAAAA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26524955	C C	CTTTCTTT others(20): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0317 a0001c0001t0002g0317	1	117	0.0085	27	c.814 others(44): Show c.814-8481_814-8480insCTTTTTTTTTTTTTTTTTTTTTTTTTT	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26524955	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0262	1	117	0.0085	27	c.814 others(44): Show c.814-8465_814-8464insTTTTTTTTTTTTTTTTTTTTTTTTTTT	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB2_chr4_40805027_41219542	40982323	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0027 a0002c0001t0027	a0002c0001t0027g0018 a0002c0001t0027g0018	1	160	0.0063	27	c.835 others(46): Show c.835+31259_835+31260insCTTTCTTTCTTTCTTTCTTTCTTTCT T	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159907	A A	AAGGAGAA others(20): Show AAGGAGAAGGAGAAGGAGAAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01358.hp1 HG00733.hp2 HG01358.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0070 a0002c0001t0001g0166 a0001c0002t0001g0070 a0002c0001t0001g0166	2	98	0.0204	27	c.-41 others(48): Show c.-416-16766_-416-16765insCCTCCTCCTTCTCCTTCTCCTTCT CCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159907	A A	AAGGAGAA others(20): Show AAGGAGAAGGAGAAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0122 a0001c0002t0002g0122	1	97	0.0103	27	c.-41 others(48): Show c.-416-16766_-416-16765insCCTCCTCCTCCTCCTTCTCCTTCT CCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159907	A A	AAGGAGAA others(20): Show AAGGAGAAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0133 a0002c0001t0004g0133	1	97	0.0103	27	c.-41 others(48): Show c.-416-16766_-416-16765insCCTCCTCCTCCTCCTCCTCCTTCT CCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APC2_chr19_1445121_1478244	1457895	C C	CCGGGGGG others(20): Show CCGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03471.hp2 HG02886.hp2 HG03471.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0010 a0002c0002 a0004c0010	a0002c0002t0002 a0004c0010t0004 a0002c0002t0002 a0004c0010t0004	a0002c0002t0002g0268 a0004c0010t0004g0059 a0002c0002t0002g0268 a0004c0010t0004g0059	2	116	0.0172	27	c.120 others(42): Show c.1208-70_1208-69insCGGGGGGGGGGGGGGGGGGGGGGGGGG	APC2	ENSG00000115266.12	transcript	ENST00000590469.6	protein_coding	9/14			chr19	TogoVar
APCDD1_chr18_10449635_10494949	10462568	T T	TCCTTCCT others(20): Show TCCTTCCTTCCTTCCTTCCTGTGACCTC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	420	0.0024	27	c.59- others(42): Show c.59-5883_59-5882insTGTGACCTCCCTTCCTTCCTTCCTTCC	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
API5_chr11_43306996_43349529	43310759	A A	AAATATAT others(20): Show AAATATATATTATTATCTTAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG01255.hp2 others(15): Show HG00639.hp2 HG01106.hp2 HG01255.hp2 HG01261.hp1 HG01515.hp2 HG01884.hp1 HG02148.hp2 HG02258.hp2 HG02300.hp2 HG02683.hp1 HG02922.hp1 HG03139.hp1 HG03654.hp2 HG03669.hp1 HG04115.hp2 HG04228.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(12): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0115 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0187 a0001c0001t0001g0188	18	382	0.0471	27	c.-13 others(38): Show c.-1369_-1368insAATATATATTATTATCTTAATATATAT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1236		chr11	TogoVar
API5_chr11_43306996_43349529	43311206	A A	ATATATTT others(20): Show ATATATTTATATATTAATATAATATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	382	0.0026	27	c.-92 others(36): Show c.-922_-921insTATATTTATATATTAATATAATATTAT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		789		chr11	TogoVar
APLP2_chr11_130064894_130149805	130083026	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0201 a0002c0002t0002g0201	1	153	0.0065	27	c.105 others(46): Show c.105+12945_105+12971dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APOA1_chr11_116830751_116842622	116842618	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG04115.hp1 HG02647.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	178	0.0112	27	c.-50 others(38): Show c.-5035_-5034insAAAAAAAAAAAAAAAAAAAAAAAAAAA	APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding		4997		chr11	TogoVar
APOA4_chr11_116815700_116828304	116818630	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0008 a0001c0006t0001g0008	1	281	0.0036	27	c.22 others(38): Show c.2236_*2237insAAAAAAAAAAAAAAAAATATATATATA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2069		chr11	TogoVar
APOA4_chr11_116815700_116828304	116818630	A A	ATATATAT others(20): Show ATATATATATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01517.hp2 HG00280.hp1 HG01517.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0008 a0001c0006t0001g0008	2	282	0.0071	27	c.22 others(38): Show c.2236_*2237insAAAAAAAAAAAAAAAAAAATATATATA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2069		chr11	TogoVar
APOBEC3B_chr22_38977347_38997779	38988681	T T	TTCTCTCT others(20): Show TTCTCTCTTTCTCTTCTTTCTCTCTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0080 a0006c0008t0001g0080	1	326	0.0031	27	c.570 others(42): Show c.570-771_570-770insCTTTCTCTTCTTTCTCTCTTTCTCTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3B_chr22_38977347_38997779	38988683	C C	CTCTCTCT others(20): Show CTCTCTCTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	82	0.0122	27	c.570 others(42): Show c.570-771_570-770insCTCTTCTTTCTTTCTTTCTTTCTTTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOF_chr12_56355568_56367857	56363211	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02615.hp1 HG03453.hp2 HG02055.hp1 HG02615.hp1 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0003 a0002c0003t0002g0003	3	60	0.0500	27	c.-46 others(36): Show c.-467_-466insATATATATATATATATATATATATTTT	APOF	ENSG00000175336.10	transcript	ENST00000398189.4	protein_coding		355		chr12	TogoVar
APOL3_chr22_36135329_36165755	36145972	G G	GTCTCCCT others(20): Show GTCTCCCTGTCTCTCTTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	220	0.0045	27	c.11- others(40): Show c.11-374_11-373insGAGAGAGAGAGAAGAGAGACAGGGAGA	APOL3	ENSG00000128284.20	transcript	ENST00000424878.4	protein_coding	2/3			chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0112 a0002c0002t0001g0112	1	34	0.0294	27	c.-63 others(36): Show c.-637_-636insAAAAAAAAAAAAAAAAAATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOLD1_chr12_12780659_12796466	12781159	G G	GAGCTAGG others(20): Show GAGCTAGGCACTGTGGCTCACACCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	426	0.0023	27	c.-45 others(38): Show c.-4533_-4532insAGCTAGGCACTGTGGCTCACACCTATA	APOLD1	ENSG00000178878.13	transcript	ENST00000356591.5	protein_coding		4499		chr12	TogoVar
APOO_chrX_23828353_23912938	23829573	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	137	0.0073	27	c.40 others(38): Show c.4068_*4069insATATATATATATATATATATATATATT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding		3779		chrX	TogoVar
APOO_chrX_23828353_23912938	23849583	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01258.hp1 HG02738.hp1 others(2): Show HG00544.hp2 HG01258.hp1 HG02738.hp1 HG03490.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0239 others(2): Show a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0239 a0001c0001t0003g0261 a0001c0001t0003g0264	5	69	0.0725	27	c.561 others(44): Show c.561+6718_561+6719insTTTTTTTTTTTTTTTTTTTTTTTTTTT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding	7/8			chrX	TogoVar
APPL1_chr3_57222729_57278471	57262385	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01928.hp1 NA18943.hp1 HG00609.hp2 HG01928.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0040 a0001c0001t0002g0130 a0001c0001t0002g0145 a0001c0001t0001g0040 a0001c0001t0002g0130 a0001c0001t0002g0145	3	5	0.6000	27	c.184 others(46): Show c.1842+1636_1842+1637insTTTTTTTTTTTTTTTTTTTTTTTTTT T	APPL1	ENSG00000157500.12	transcript	ENST00000288266.8	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
AQP11_chr11_77584953_77615356	77596537	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	189	0.0053	27	c.619 others(44): Show c.619+5926_619+5927insTATATATATATATATATATATATATAT	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/2			chr11	TogoVar
AQP7B_chr2_94582311_94609628	94590944	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0286 a0006c0008t0001g0286	1	289	0.0035	27	c.26+ others(42): Show c.26+2421_26+2422insAAAAAAAAAAAAAAAAAAAAAAAAAAA	AQP7B	ENSG00000259916.2	transcript	ENST00000561882.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0022 a0001c0007t0022	a0001c0007t0022g0001 a0001c0007t0022g0001	1	87	0.0115	27	c.246 others(46): Show c.2461-1415_2461-1414insATATATTTTTTTTTTTTTTTTTTTTT T	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
ARFGEF1_chr8_67192658_67348781	67339795	C C	CGGGGGGG others(20): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	22	0.0455	27	c.124 others(44): Show c.124+3368_124+3369insCCCCCCCCCCCCCCCCCCCCCCCCCCC	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	1/38			chr8	TogoVar
ARFGEF2_chr20_48916711_49041693	48958181	A A	AACACACA others(20): Show AACACACAGGCCTAATAAAAAGTAGCAT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	350	0.0029	27	c.838 others(44): Show c.838+4392_838+4418dupACACACAGGCCTAATAAAAAGTAGCAT	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	6/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFIP1_chr4_152774954_152917357	152808283	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02080.hp2 NA18940.hp2 HG00609.hp2 HG02080.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0103 a0001c0001t0001g0116 a0001c0001t0003g0258 a0001c0001t0001g0103 a0001c0001t0001g0116 a0001c0001t0003g0258	3	7	0.4286	27	c.-9- others(44): Show c.-9-21334_-9-21308dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152847124	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 NA18957.hp2 HG00099.hp1 HG00280.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0161 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0161	3	89	0.0337	27	c.94- others(44): Show c.94-16458_94-16457insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152889797	C C	CTATACTA others(20): Show CTATACTATATACTATATATATACTATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0196 a0001c0001t0002g0197	2	340	0.0059	27	c.966 others(44): Show c.966+1529_966+1555dupCTATATATATACTATATATACTATATA	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFRP1_chr20_63693647_63712976	63693648	A A	ACCACCAC others(20): Show ACCACCACCACCTCCACCACCTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	283	0.0035	27	c.67 others(38): Show c.6794_*6795insAGGTGGAGGTGGTGGAGGTGGTGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4998		chr20	TogoVar
ARFRP1_chr20_63693647_63712976	63693654	A A	ACCACCTC others(20): Show ACCACCTCCACCACCACCTCCACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0020	1	247	0.0040	27	c.67 others(38): Show c.6788_*6789insAGGTGGTGGAGGTGGTGGTGGAGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4992		chr20	TogoVar
ARFRP1_chr20_63693647_63712976	63693654	A A	ACCACCTC others(20): Show ACCACCTCCACCACCTCCACCACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	247	0.0040	27	c.67 others(38): Show c.6788_*6789insAGGTGGTGGTGGAGGTGGTGGAGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4992		chr20	TogoVar

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