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
ADRA1D_chr20_4215630_4254287	4227704	C C	CTCCTTCC others(26): Show CTCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0288 a0002c0002t0008g0288	1	177	0.0056	33	c.111 others(52): Show c.1112-5575_1112-5574insAGGAAGGAAGGAAGGAAGGGAGGGAA GGAAGGA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADRA1D_chr20_4215630_4254287	4227704	C C	CTCCTTCC others(26): Show CTCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01515.hp2 HG01928.hp1 others(10): Show HG00099.hp1 HG01515.hp2 HG01928.hp1 HG02071.hp2 HG03239.hp1 HG03831.hp1 HG03942.hp1 NA18944.hp1 NA18947.hp2 NA18953.hp1 NA18961.hp1 NA19066.hp1 NA19072.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0002c0002t0008 a0001c0001t0005 a0002c0002t0002 a0002c0002t0008	a0001c0001t0005g0312 a0001c0001t0005g0320 a0002c0002t0002g0002 others(9): Show a0001c0001t0005g0312 a0001c0001t0005g0320 a0002c0002t0002g0002 a0002c0002t0002g0015 a0002c0002t0002g0042 a0002c0002t0002g0251 a0002c0002t0002g0255 a0002c0002t0002g0266 a0002c0002t0002g0282 a0002c0002t0008g0017 a0002c0002t0008g0283 a0002c0002t0008g0287	13	189	0.0688	33	c.111 others(52): Show c.1112-5575_1112-5574insAGGAAGGAAGGAAGGAAGGAAGGGAA GGAAGGA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
AFAP1L2_chr10_114289824_114409502	114327137	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	255	0.0039	33	c.316 others(50): Show c.316-3877_316-3876insTATATATATATATATATATATATATATA TATAT	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18			chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114327174	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0062 a0001c0003t0002g0062	1	254	0.0039	33	c.316 others(50): Show c.316-3914_316-3913insTATATATATATATATATATATATATATA TATAT	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18			chr10	TogoVar
AFAP1_chr4_7753714_7944861	7863583	C C	CAAAAATT others(26): Show CAAAAATTCAGAAGTTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0233 a0001c0016t0003g0233	1	316	0.0032	33	c.225 others(50): Show c.225+5038_225+5039insTTTTTTTTTTTTTTTTTGAACTTCTGAA TTTTT	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	3/17			chr4	TogoVar
AFF1_chr4_86930011_87146039	86969879	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18522.hp2 HG02258.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0198 a0001c0002t0005g0199 a0001c0002t0005g0198 a0001c0002t0005g0199	2	42	0.0476	33	c.38+ others(50): Show c.38+21326_38+21327insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF2_chrX_148495617_149005663	148500637	T T	TGCCGCCG others(26): Show TGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0079 a0001c0002t0055g0079	1	44	0.0227	33	c.-44 others(42): Show c.-446_-414dupCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/21	413	INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148614733	C C	CTTTTCTT others(26): Show CTTTTCTTTCTTTCTTTCCTTCTTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0079 a0001c0002t0055g0079	1	156	0.0064	33	c.48- others(50): Show c.48-37266_48-37265insTTTTCTTTCTTTCTTTCCTTCTTTTCTT TCTTT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20			chrX	TogoVar
AFF2_chrX_148495617_149005663	148614738	T T	TTTCTTTC others(26): Show TTTCTTTCTTTTCTTTCTTTCTTTCCTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0062 a0001c0003t0062	a0001c0003t0062g0135 a0001c0003t0062g0135	1	70	0.0143	33	c.48- others(50): Show c.48-37259_48-37258insCTTTCTTTTCTTTCTTTCTTTCCTTCTT TTCTT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148614738	T T	TTTCTTTT others(26): Show TTTCTTTTCTTTCTTTCTTTCCTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0007 a0001c0001t0048g0007	1	70	0.0143	33	c.48- others(50): Show c.48-37259_48-37258insCTTTTCTTTCTTTCTTTCCTTCTTTTCT TTCTT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148614738	T T	TTTTCTTT others(26): Show TTTTCTTTCTTTCTTTCCTTCTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0119 a0001c0002t0045g0119	1	70	0.0143	33	c.48- others(50): Show c.48-37245_48-37244insCTTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF3_chr2_99540419_100147590	100104798	A A	AGCCGCCG others(26): Show AGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0067 a0001c0003t0001g0067	1	62	0.0161	33	c.-64 others(48): Show c.-64-281_-64-280insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGC	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	3/24			chr2	TogoVar
AGAP1_chr2_235489043_236136793	235573014	T T	TTCTTCTT others(26): Show TTCTTCTTTCTTCTTTCTTCCTTCTTCCTTCTTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03453.hp2 HG02717.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0003 a0001c0014t0016 a0001c0001t0003 a0001c0014t0016	a0001c0001t0003g0090 a0001c0014t0016g0048 a0001c0001t0003g0090 a0001c0014t0016g0048	2	98	0.0204	33	c.163 others(52): Show c.163+78165_163+78166insTCTTCTTTCTTCTTTCTTCCTTCTTC CTTCTTC	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17			chr2	TogoVar
AGAP1_chr2_235489043_236136793	235573017	T T	TTCTTCTT others(26): Show TTCTTCTTTCTTCTTTCTTCCTTCTTCCTTCTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp2 HG02109.hp1 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0018 a0001c0003 a0001c0018	a0001c0003t0009 a0001c0018t0049 a0001c0003t0009 a0001c0018t0049	a0001c0003t0009g0096 a0001c0018t0049g0080 a0001c0003t0009g0096 a0001c0018t0049g0080	2	93	0.0215	33	c.163 others(52): Show c.163+78168_163+78169insTCTTCTTTCTTCTTTCTTCCTTCTTC CTTCTTC	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17			chr2	TogoVar
AGAP1_chr2_235489043_236136793	235573020	T T	TTCTTCTT others(26): Show TTCTTCTTTCTTCTTTCTTCCTTCTTCCTTCTTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0065 a0001c0001t0019g0065	1	93	0.0108	33	c.163 others(52): Show c.163+78171_163+78172insTCTTCTTTCTTCTTTCTTCCTTCTTC CTTCTTC	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17			chr2	TogoVar
AGAP1_chr2_235489043_236136793	235573023	T T	TTCTTCTT others(26): Show TTCTTCTTTCTTCTTTCTTCCTTCTTCCTTCTTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0050 a0001c0005t0013g0050	1	90	0.0111	33	c.163 others(52): Show c.163+78174_163+78175insTCTTCTTTCTTCTTTCTTCCTTCTTC CTTCTTC	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17			chr2	TogoVar
AGAP1_chr2_235489043_236136793	235700975	A A	ATATATGT others(26): Show ATATATGTATATATTATATATGCTATAATATAGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0030 a0002c0004t0030	a0002c0004t0030g0045 a0002c0004t0030g0045	1	28	0.0357	33	c.164 others(50): Show c.164-8118_164-8086dupTGCTATAATATAGTTATATGTATATATT ATATA	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP9_chr10_47496854_47528638	47503937	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	40	0.0250	33	c.585 others(48): Show c.585+251_585+252insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	7/7			chr10	TogoVar
AGBL1_chr15_86074871_86921156	86262078	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01070.hp1 HG03710.hp1 others(2): Show HG00621.hp1 HG01070.hp1 HG03710.hp1 NA18979.hp2 NA19002.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0013 a0001c0003 a0001c0008 a0001c0013	a0001c0003t0002 a0001c0003t0057 a0001c0008t0001 others(1): Show a0001c0003t0002 a0001c0003t0057 a0001c0008t0001 a0001c0013t0014	a0001c0003t0002g0017 a0001c0003t0057g0030 a0001c0008t0001g0006 others(2): Show a0001c0003t0002g0017 a0001c0003t0057g0030 a0001c0008t0001g0006 a0001c0008t0001g0076 a0001c0013t0014g0122	5	8	0.6250	33	c.970 others(48): Show c.970-684_970-683insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86903975	C C	CGCCCCTG others(26): Show CGCCCCTGCCTTCTCTCCCTGCTCCTCCTCCTCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02257.hp1 others(6): Show HG01243.hp1 HG02055.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02647.hp1 HG02895.hp2 HG03209.hp2 NA18906.hp1	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0017	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0001c0053 a0004c0020 a0008c0017 a0017c0028	a0001c0001t0008 a0001c0001t0047 a0001c0003t0008 others(6): Show a0001c0001t0008 a0001c0001t0047 a0001c0003t0008 a0001c0007t0029 a0001c0053t0008 a0004c0020t0012 a0004c0020t0043 a0008c0017t0012 a0017c0028t0013	a0001c0001t0008g0106 a0001c0001t0047g0014 a0001c0003t0008g0125 others(6): Show a0001c0001t0008g0106 a0001c0001t0047g0014 a0001c0003t0008g0125 a0001c0007t0029g0115 a0001c0053t0008g0012 a0004c0020t0012g0073 a0004c0020t0043g0068 a0008c0017t0012g0090 a0017c0028t0013g0131	9	132	0.0682	33	c.315 others(52): Show c.3159-3110_3159-3109insCCCTGCCTTCTCTCCCTGCTCCTCCT CCTCAGC	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL2_chr11_47654591_47720369	47678343	A A	ATTTTATT others(26): Show ATTTTATTATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0107 a0002c0002t0002g0107	1	273	0.0037	33	c.201 others(50): Show c.2017-943_2017-942insAAAAAAAAAAAAAAAAAAAAAAAAATAA TAAAA	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	13/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0022 a0002c0002t0002g0022	1	8	0.1250	33	c.848 others(48): Show c.848+373_848+374insATATATATATATATTTTTTTTTTTTTTTTT TTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01517.hp2 HG01943.hp1 others(2): Show HG01123.hp2 HG01517.hp2 HG01943.hp1 NA18989.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0013 a0001c0001 a0002c0002 a0002c0013	a0001c0001t0001 a0002c0002t0002 a0002c0013t0002 a0001c0001t0001 a0002c0002t0002 a0002c0013t0002	a0001c0001t0001g0246 a0002c0002t0002g0047 a0002c0002t0002g0052 others(2): Show a0001c0001t0001g0246 a0002c0002t0002g0047 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0013t0002g0237	5	12	0.4167	33	c.848 others(48): Show c.848+373_848+374insATATATATATATATATATTTTTTTTTTTTT TTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0026 a0002c0002t0002g0026	1	8	0.1250	33	c.848 others(48): Show c.848+373_848+374insATATATATATATATATATATTTTTTTTTTT TTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL3_chr7_134981508_135140778	135026244	A A	ATTATTTT others(26): Show ATTATTTTATTTTATTTTTTTTATTTATTTTATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG00639.hp2 others(50): Show HG00280.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG01081.hp1 HG01123.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02055.hp2 HG02080.hp2 HG02273.hp2 HG02280.hp2 HG02572.hp1 HG02622.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18975.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19084.hp1 NA19088.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0002c0002t0002 a0002c0002t0007 a0004c0005t0002	a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0016 others(47): Show a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0272 a0001c0001t0003g0010 a0001c0001t0003g0142 a0001c0001t0003g0223 a0001c0001t0003g0228 a0001c0001t0003g0233 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0010g0220 a0002c0002t0002g0002 a0002c0002t0002g0023 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0036 a0002c0002t0002g0038 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0058 a0002c0002t0007g0039 a0004c0005t0002g0188	53	194	0.2732	33	c.419 others(50): Show c.419-6583_419-6582insTTTTATTTATTTTATTTTATTTTATTTT ATTTT	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGMO_chr7_15195317_15567015	15342172	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03471.hp2 HG02109.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0181 a0001c0003t0001g0065 a0001c0001t0003g0181 a0001c0003t0001g0065	2	55	0.0364	33	c.126 others(54): Show c.1263+23341_1263+23342insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15531141	A A	ATATATAT others(26): Show ATATATATTCTATATATATTCTATATATATATTC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	80	0.0125	33	c.409 others(52): Show c.409+13598_409+13630dupGAATATATATATAGAATATATATAGA ATATATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGPS_chr2_177387773_177548834	177388927	A A	AAAAATTA others(26): Show AAAAATTAACAGATCCTTCCGAGCTTGACTGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	256	0.0039	33	c.-38 others(44): Show c.-3863_-3862insAAAATTAACAGATCCTTCCGAGCTTGACTGGAT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding		3845		chr2	TogoVar
AHCTF1_chr1_246834098_246936948	246935895	C C	CCCCCCCC others(26): Show CCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0356 a0001c0004t0002g0356	1	374	0.0027	33	c.-43 others(44): Show c.-4326_-4325insAGGGGGGGAGGGGGGGGGGGGGGGGGGGGGGGG	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding		3948		chr1	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19060.hp2 HG02895.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0003 a0001c0009t0036 a0001c0001t0003 a0001c0009t0036	a0001c0001t0003g0174 a0001c0009t0036g0033 a0001c0001t0003g0174 a0001c0009t0036g0033	2	104	0.0192	33	c.-10 others(50): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT TTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02015.hp2 HG02300.hp2 others(1): Show HG00735.hp1 HG02015.hp2 HG02300.hp2 HG02922.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0003 a0001c0001t0059 a0002c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0059 a0002c0002t0001 a0003c0004t0004	a0001c0001t0003g0208 a0001c0001t0059g0016 a0002c0002t0001g0191 others(1): Show a0001c0001t0003g0208 a0001c0001t0059g0016 a0002c0002t0001g0191 a0003c0004t0004g0185	4	106	0.0377	33	c.-10 others(50): Show c.-10-3204_-10-3203insATATATATATATATATATATATATTTTT TTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391937	A A	AGGGCCAG others(26): Show AGGGCCAGAGCGTGCACGGACGCAGGGCGATGAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01070.hp2 others(10): Show HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG03139.hp1 HG06807.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0006 a0001c0001t0022 a0001c0001t0027 others(6): Show a0001c0001t0006 a0001c0001t0022 a0001c0001t0027 a0001c0001t0049 a0001c0001t0056 a0002c0002t0006 a0002c0002t0010 a0003c0004t0004 a0003c0004t0028	a0001c0001t0006g0262 a0001c0001t0022g0222 a0001c0001t0027g0153 others(9): Show a0001c0001t0006g0262 a0001c0001t0022g0222 a0001c0001t0027g0153 a0001c0001t0049g0155 a0001c0001t0056g0175 a0002c0002t0006g0007 a0002c0002t0010g0015 a0003c0004t0004g0002 a0003c0004t0004g0003 a0003c0004t0004g0005 a0003c0004t0004g0014 a0003c0004t0028g0006	13	210	0.0619	33	c.351 others(52): Show c.351+15223_351+15224insGCCAGAGCGTGCACGGACGCAGGGCG ATGAGGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	392347	C C	CGAGGCAG others(26): Show CGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01243.hp2 others(1): Show HG01081.hp1 HG01109.hp1 HG01243.hp2 HG01928.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0019 a0003c0004t0004 a0002c0002t0019 a0003c0004t0004	a0002c0002t0019g0009 a0003c0004t0004g0004 a0003c0004t0004g0008 others(1): Show a0002c0002t0019g0009 a0003c0004t0004g0004 a0003c0004t0004g0008 a0003c0004t0004g0014	4	252	0.0159	33	c.351 others(52): Show c.351+15663_351+15664insTGAGGCAGGGCCAGAGCGTGCACGGG CGCAGGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	47	0.0213	33	c.135 others(48): Show c.135+477_135+478insAAAAAAAAAAATATATATATATATATATAT ATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA19054.hp1 HG01256.hp2 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0111 a0001c0002t0001g0112	2	48	0.0417	33	c.135 others(48): Show c.135+477_135+478insAAAAAAATATATATATATATATATATATAT ATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(26): Show AAAAAAAATATAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	47	0.0213	33	c.135 others(48): Show c.135+477_135+478insAAAAAATATAATATATATATATATATATAT ATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	47	0.0213	33	c.135 others(48): Show c.135+477_135+478insAAAAATATATATATATATATATATATATAT ATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAATATAC others(26): Show AAATATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	2	48	0.0417	33	c.135 others(48): Show c.135+477_135+478insATATACATATATATATATATATATATATAT ATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AK5_chr1_77277019_77564966	77444621	C C	CATAGTAT others(26): Show CATAGTATAAATATATACTATATATAGTATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18965.hp1 NA18994.hp1 others(1): Show NA18955.hp1 NA18965.hp1 NA18994.hp1 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0018 a0001c0001t0001 a0002c0004t0018	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0120 others(1): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0120 a0002c0004t0018g0256	4	211	0.0190	33	c.105 others(54): Show c.1059+26938_1059+26939insTATAGTATAAATATATACTATATA TAGTATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK7_chr14_96387128_96494427	96418322	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG01433.hp1 others(8): Show HG00735.hp1 HG01167.hp2 HG01433.hp1 HG02293.hp1 HG02717.hp1 HG03209.hp1 HG03471.hp1 HG03688.hp2 HG04204.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0006t0001 a0002c0002t0002 a0002c0014t0003	a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0197 others(8): Show a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0002g0057 a0001c0001t0002g0237 a0001c0001t0002g0307 a0001c0001t0004g0268 a0001c0006t0001g0008 a0002c0002t0002g0288 a0002c0014t0003g0058	11	41	0.2683	33	c.499 others(50): Show c.499-2485_499-2484insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP13_chr15_85375603_85754355	85498212	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0031 a0004c0021t0031	a0004c0021t0031g0174 a0004c0021t0031g0175 a0004c0021t0031g0174 a0004c0021t0031g0175	2	312	0.0064	33	c.33+ others(50): Show c.33+12474_33+12475insATATATATATATATATATTATATATATA TATAT	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP6_chr14_32324298_32842684	32615167	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0004 a0001c0001t0045g0004	1	33	0.0303	33	c.273 others(54): Show c.2730+14394_2730+14395insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32769037	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	16	0.0625	33	c.337 others(52): Show c.3373-4614_3373-4613insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32811255	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0004 a0004c0027t0004	a0004c0027t0004g0107 a0004c0027t0004g0107	1	67	0.0149	33	c.358 others(54): Show c.3589-10146_3589-10145insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP7_chr6_131130467_131288532	131163210	G G	GTAATGTT others(26): Show GTAATGTTTCCTTTTCAAGAGACTTATTTGTAGT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0300 a0001c0001t0002g0300	1	302	0.0033	33	c.292 others(50): Show c.292-1866_292-1834dupGTTTCCTTTTCAAGAGACTTATTTGTAG TTAAT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALCAM_chr3_105361909_105581900	105368223	A A	AGAGAGAG others(26): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02970.hp1 HG01123.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0002 a0001c0001t0004 a0001c0003t0002	a0001c0001t0004g0319 a0001c0003t0002g0092 a0001c0001t0004g0319 a0001c0003t0002g0092	2	42	0.0476	33	c.73+ others(46): Show c.73+742_73+743insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15			chr3	TogoVar
ALDH1L2_chr12_105014790_105089458	105036092	T T	TATATATA others(26): Show TATATATACGTATATTTATATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp2 HG01496.hp2 others(3): Show HG01081.hp1 HG01243.hp2 HG01496.hp2 HG02572.hp2 HG02809.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0214 a0001c0001t0001g0351	6	379	0.0158	33	c.214 others(52): Show c.2146-1727_2146-1695dupTATATATACACATATATAAATATACG TATATAT	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105036135	T T	TACGTATA others(26): Show TACGTATATTTATATATGTGTATATAATATATAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03516.hp2 HG02717.hp2 HG03516.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0017 a0004c0008t0017 a0001c0001t0017 a0004c0008t0017	a0001c0001t0017g0215 a0004c0008t0017g0232 a0001c0001t0017g0215 a0004c0008t0017g0232	2	289	0.0069	33	c.214 others(52): Show c.2146-1770_2146-1738dupGTATATATTATATACACATATATAAA TATACGT	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0341 a0001c0001t0001g0341	1	183	0.0055	33	c.194 others(48): Show c.194-839_194-838insAAAAAAATATATATATATATATATATATAT ATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0021 a0001c0001t0011g0021	1	183	0.0055	33	c.194 others(48): Show c.194-839_194-838insAAAAAAAAAAATATATATATATATATATAT ATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar

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