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
ADK_chr10_74146221_74714290	74274732	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02896.hp1 HG03041.hp2 HG01496.hp2 HG02896.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0001 a0001c0001t0001g0192 a0001c0001t0001g0199	3	79	0.0380	28	c.195 others(47): Show c.195-39934_195-39933insGTATATATATATATATATATATATAT AT	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74280415	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19043.hp1 HG03195.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0100 a0001c0001t0001g0031 a0001c0001t0001g0100	2	75	0.0267	28	c.195 others(47): Show c.195-34247_195-34220dupACACACACACACACACACACACACAC AC	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74342779	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18975.hp2 HG02004.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0015 a0001c0001t0001g0022	2	100	0.0200	28	c.273 others(47): Show c.273+28044_273+28071dupGTGTGTGTGTGTGTGTGTGTGTGTGT GT	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74480206	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	110	0.0091	28	c.556 others(47): Show c.556-45027_556-45026insCTTTCTTTCTTTCTTTCTTTCTTTCT TT	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74702524	T T	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02280.hp2 NA18941.hp1 others(3): Show HG02004.hp1 HG02280.hp2 NA18941.hp1 NA18961.hp1 NA19011.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0068 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0184 a0001c0001t0003g0056	6	51	0.1176	28	c.965 others(45): Show c.965-5775_965-5748dupTCCTTCCTTCCTTCCTTCCTTCCTTCCT	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADM2_chr22_50476543_50491437	50486471	C C	CACCCGTA others(21): Show CACCCGTATCCACGGGGGGGGGGGTAACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0070 a0002c0002t0070	a0002c0002t0070g0001 a0002c0002t0070g0001	1	444	0.0023	28	c.35 others(39): Show c.3568_*3569insACCCGTATCCACGGGGGGGGGGGTAACT	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding		35		chr22	TogoVar
ADM2_chr22_50476543_50491437	50490336	G G	GGTGGCAA others(21): Show GGTGGCAAGCGCTCACCTATAATCCAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	28	c.74 others(39): Show c.7433_*7434insGTGGCAAGCGCTCACCTATAATCCAGCA	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding		3900		chr22	TogoVar
ADORA2B_chr17_15940130_15980746	15976098	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	174	0.0057	28	c.75 others(37): Show c.756_*757insAAAAAAAAAAAAAAAAAAAAATATATAT	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		353		chr17	TogoVar
ADORA3_chr1_111494429_111508633	111501628	C C	CAAGTAAC others(21): Show CAAGTAACTTCTACAAGTTAGAAGTGGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0040 a0001c0002t0003g0040	1	456	0.0022	28	c.351 others(45): Show c.351-1100_351-1073dupCACCACTTCTAACTTGTAGAAGTTACTT	ADORA3	ENSG00000282608.2	transcript	ENST00000241356.5	protein_coding	1/1			chr1	TogoVar
ADPRHL1_chr13_113394611_113458488	113447043	G G	GCATGGTG others(21): Show GCATGGTGTGTGTGCATGGTGTCTACAGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG01243.hp2 HG02145.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0042 a0002c0002t0065 a0001c0001t0042 a0002c0002t0065	a0001c0001t0042g0258 a0002c0002t0065g0058 a0001c0001t0042g0258 a0002c0002t0065g0058	2	260	0.0077	28	c.215 others(45): Show c.215-2455_215-2454insACTGTAGACACCATGCACACACACCATG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	1/7			chr13	TogoVar
ADRA1B_chr5_159911482_159978012	159963288	G G	GTATATAT others(21): Show GTATATATATATATATGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00609.hp1 others(10): Show HG00423.hp2 HG00438.hp2 HG00609.hp1 HG02273.hp2 HG02683.hp2 HG03017.hp2 NA18612.hp1 NA18964.hp1 NA18983.hp2 NA18986.hp2 NA19057.hp2 NA19076.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0162 others(10): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0197 a0001c0001t0002g0326 a0001c0001t0002g0351 a0001c0002t0001g0086 a0001c0002t0001g0104 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0001g0122 a0001c0002t0001g0173	13	221	0.0588	28	c.950 others(45): Show c.950-8576_950-8575insGTATATATATATATATATATATATATAT	ADRA1B	ENSG00000170214.5	transcript	ENST00000306675.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADRA1D_chr20_4215630_4254287	4231038	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19081.hp2 NA19004.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0117 a0001c0001t0001g0106 a0001c0001t0001g0117	2	312	0.0064	28	c.111 others(47): Show c.1112-8936_1112-8909dupGAAAGAAAGAAAGAAAGAAAGAAAGA AA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADRA1D_chr20_4215630_4254287	4231064	T T	TTCTTTCT others(21): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0045 a0002c0002t0002g0045	1	323	0.0031	28	c.111 others(47): Show c.1112-8935_1112-8934insGAGAAAGAAAGAAAGAAAGAAAGAAA GA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADRM1_chr20_62297997_62313862	62313816	C C	CGAGGGGT others(21): Show CGAGGGGTGGCGAGTGGGCACGGAGAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0060 a0003c0008t0001g0060	1	365	0.0027	28	c.50 others(39): Show c.5055_*5056insGAGGGGTGGCGAGTGGGCACGGAGAGAT	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding		4955		chr20	TogoVar
AFAP1L1_chr5_149266859_149348637	149307818	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	15	0.0667	28	c.747 others(43): Show c.747+217_747+244dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
AFAP1L2_chr10_114289824_114409502	114327147	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00673.hp1 others(7): Show HG00280.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01258.hp1 HG01258.hp2 HG02040.hp2 HG02074.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0017	a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0119 others(7): Show a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0119 a0001c0001t0001g0151 a0001c0001t0001g0259 a0001c0001t0004g0087 a0001c0001t0004g0113 a0001c0001t0004g0230 a0001c0001t0008g0176 a0001c0001t0017g0078	10	48	0.2083	28	c.316 others(45): Show c.316-3887_316-3886insTATATATATATATATATATATATATATA	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18			chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114327147	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0011 a0001c0012t0011	a0001c0012t0011g0192 a0001c0012t0011g0192	1	39	0.0256	28	c.316 others(45): Show c.316-3887_316-3886insTATATATATATATATATATATATATAAA	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18			chr10	TogoVar
AFAP1_chr4_7753714_7944861	7798360	T T	TCTATTGG others(21): Show TCTATTGGCTGGCTCACGGCACTGCAACC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0274 a0001c0002t0003g0274	1	315	0.0032	28	c.126 others(47): Show c.1266+2054_1266+2081dupGGTTGCAGTGCCGTGAGCCAGCCAAT AG	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	10/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7827569	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0040 a0002c0040	a0002c0040t0073 a0002c0040t0073	a0002c0040t0073g0315 a0002c0040t0073g0315	1	47	0.0213	28	c.727 others(45): Show c.727-8399_727-8398insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7848099	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp2 HG01975.hp2 others(9): Show HG01261.hp2 HG01891.hp2 HG01975.hp2 HG02622.hp2 HG02647.hp1 HG02922.hp2 HG02976.hp1 HG03516.hp1 HG03516.hp2 HG03710.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005 a0002c0039 a0002c0040 a0004c0018	a0001c0001t0070 a0001c0002t0069 a0001c0004t0006 others(5): Show a0001c0001t0070 a0001c0002t0069 a0001c0004t0006 a0001c0004t0007 a0002c0005t0004 a0002c0039t0072 a0002c0040t0073 a0004c0018t0004	a0001c0001t0070g0312 a0001c0002t0069g0265 a0001c0004t0006g0240 others(9): Show a0001c0001t0070g0312 a0001c0002t0069g0265 a0001c0004t0006g0240 a0001c0004t0007g0269 a0001c0004t0007g0272 a0001c0004t0007g0304 a0002c0005t0004g0297 a0002c0005t0004g0298 a0002c0039t0072g0314 a0002c0040t0073g0315 a0004c0018t0004g0214 a0004c0018t0004g0215	12	186	0.0645	28	c.335 others(45): Show c.335-4777_335-4750dupCTTCCTTCCTTCCTTCCTTCCTTCCTTC	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	4/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7899857	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG01081.hp2 others(22): Show HG00609.hp2 HG00639.hp1 HG01081.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01515.hp1 HG02074.hp2 HG02083.hp2 HG02630.hp2 HG03669.hp2 HG03927.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18975.hp2 NA18980.hp2 NA18994.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp2 NA19011.hp1 NA19066.hp2 NA19086.hp2 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0013 a0001c0001 a0001c0002 a0003c0013	a0001c0001t0015 a0001c0002t0003 a0001c0002t0028 others(2): Show a0001c0001t0015 a0001c0002t0003 a0001c0002t0028 a0001c0002t0074 a0003c0013t0005	a0001c0001t0015g0116 a0001c0001t0015g0117 a0001c0002t0003g0098 others(22): Show a0001c0001t0015g0116 a0001c0001t0015g0117 a0001c0002t0003g0098 a0001c0002t0003g0100 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0104 a0001c0002t0003g0108 a0001c0002t0003g0110 a0001c0002t0003g0114 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0250 a0001c0002t0003g0251 a0001c0002t0028g0105 a0001c0002t0074g0316 a0003c0013t0005g0107	25	199	0.1256	28	c.-2- others(45): Show c.-2-27778_-2-27777insATTTATTTATTTATTTATTTATTTATTT	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	1/17			chr4	TogoVar
AFF1_chr4_86930011_87146039	86969879	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0018 a0018	a0018c0015 a0018c0015	a0018c0015t0054 a0018c0015t0054	a0018c0015t0054g0012 a0018c0015t0054g0012	1	41	0.0244	28	c.38+ others(45): Show c.38+21326_38+21327insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF1_chr4_86930011_87146039	86985181	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0129 a0001c0001t0012g0129	1	35	0.0286	28	c.38+ others(45): Show c.38+36617_38+36644dupTATATATATATATATATATATATATATA	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF2_chrX_148495617_149005663	148704460	G G	GTGTATAT others(21): Show GTGTATATATATTTATATATATGTGTATA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0061 a0001c0001t0014g0061	1	16	0.0625	28	c.104 others(49): Show c.1041+41693_1041+41694insGTATATATATTTATATATATGTGT ATAT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148762409	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02258.hp1 others(1): Show HG01884.hp2 HG01891.hp1 HG02258.hp1 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0009 a0001c0002t0024 a0001c0002t0059 others(1): Show a0001c0002t0009 a0001c0002t0024 a0001c0002t0059 a0001c0007t0035	a0001c0002t0009g0125 a0001c0002t0024g0149 a0001c0002t0059g0016 others(1): Show a0001c0002t0009g0125 a0001c0002t0024g0149 a0001c0002t0059g0016 a0001c0007t0035g0163	4	150	0.0267	28	c.104 others(49): Show c.1042-47455_1042-47454insTATATATATATATATATATATATA TATA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148762420	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0014 a0001c0002t0013g0014	1	142	0.0070	28	c.104 others(49): Show c.1042-47455_1042-47454insTATATATATATATATATATATATA TACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148773685	G G	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0011 a0001c0001t0016g0011	1	43	0.0233	28	c.104 others(49): Show c.1042-36156_1042-36129dupAAGAAAGAAAGAAAGAAAGAAAGA AAGA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF3_chr2_99540419_100147590	99648915	A A	ACTCTCTC others(21): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	84	0.0119	28	c.118 others(45): Show c.1184+710_1184+711insAGAGAGAGAGAGAGAGAGAGAGAGAGAG	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	13/24			chr2	TogoVar
AFF3_chr2_99540419_100147590	99648917	A A	ACACACAC others(21): Show ACACACACACACACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03540.hp2 HG04199.hp2 HG00438.hp1 HG03540.hp2 HG04199.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0006 a0005c0011 a0002c0002 a0003c0006 a0005c0011	a0002c0002t0023 a0003c0006t0003 a0005c0011t0009 a0002c0002t0023 a0003c0006t0003 a0005c0011t0009	a0002c0002t0023g0054 a0003c0006t0003g0039 a0005c0011t0009g0012 a0002c0002t0023g0054 a0003c0006t0003g0039 a0005c0011t0009g0012	3	21	0.1429	28	c.118 others(45): Show c.1184+708_1184+709insAGAGAGAGAGAGAGAGTGTGTGTGTGTG	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	13/24			chr2	TogoVar
AFF3_chr2_99540419_100147590	99648917	A A	ACACACAC others(21): Show ACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp1 HG02615.hp2 others(5): Show HG00738.hp2 HG01106.hp1 HG02615.hp2 HG02630.hp1 HG03041.hp2 HG03139.hp2 HG03516.hp1 NA20129.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0004 a0003c0006 others(1): Show a0001c0001 a0001c0004 a0003c0006 a0004c0010	a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 others(4): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0022 a0001c0004t0020 a0003c0006t0001 a0004c0010t0005	a0001c0001t0008g0009 a0001c0001t0010g0055 a0001c0001t0012g0008 others(5): Show a0001c0001t0008g0009 a0001c0001t0010g0055 a0001c0001t0012g0008 a0001c0001t0022g0019 a0001c0004t0020g0011 a0003c0006t0001g0034 a0003c0006t0001g0035 a0004c0010t0005g0074	8	26	0.3077	28	c.118 others(45): Show c.1184+708_1184+709insAGAGAGAGAGAGAGAGAGTGTGTGTGTG	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	13/24			chr2	TogoVar
AFF3_chr2_99540419_100147590	99648917	A A	ACACACAC others(21): Show ACACACACACTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	19	0.0526	28	c.118 others(45): Show c.1184+708_1184+709insAGAGAGAGAGAGAGAGAGAGTGTGTGTG	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	13/24			chr2	TogoVar
AFF3_chr2_99540419_100147590	99648917	A A	ACACACAC others(21): Show ACACACACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02293.hp2 HG01106.hp2 HG02293.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0066 a0001c0003t0002g0064 a0001c0003t0001g0066 a0001c0003t0002g0064	2	20	0.1000	28	c.118 others(45): Show c.1184+708_1184+709insAGAGAGAGAGAGAGAGAGAGAGTGTGTG	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	13/24			chr2	TogoVar
AFF3_chr2_99540419_100147590	99648917	A A	ACTCTCTC others(21): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	19	0.0526	28	c.118 others(45): Show c.1184+708_1184+709insAGAGAGAGAGAGAGAGAGAGAGAGAGAG	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	13/24			chr2	TogoVar
AFP_chr4_73431221_73461174	73459177	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTATGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(59): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00609.hp1 HG00639.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01255.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp2 HG03490.hp1 HG03654.hp1 HG03654.hp2 HG04184.hp2 NA18948.hp1 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18985.hp1 NA18992.hp1 NA18997.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19012.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp1 NA19072.hp2 NA19077.hp1 NA19085.hp2 NA19086.hp1 NA19091.hp2 NA21309.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0011 a0001c0001 a0011c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0011c0011t0002	a0001c0001t0001g0001 a0001c0001t0001g0053 a0001c0001t0002g0002 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0053 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0006g0090 a0011c0011t0002g0020	62	125	0.4960	28	c.35 others(39): Show c.3557_*3558insTGTGTGTGTGTGTGTGTGTGTGTATGCA	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding		3004		chr4	TogoVar
AGAP1_chr2_235489043_236136793	235536254	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0011 a0002c0007t0008g0011	1	6	0.1667	28	c.163 others(47): Show c.163+41428_163+41429insCACACACACACACACACACACACACA CA	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235538427	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	20	0.0500	28	c.163 others(47): Show c.163+43585_163+43612dupTGTGTGTGTGTGTGTGTGTGTGTGTG TG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235728326	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA21309.hp2 HG02109.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0044 a0001c0001t0011 a0001c0001t0044	a0001c0001t0011g0020 a0001c0001t0044g0041 a0001c0001t0011g0020 a0001c0001t0044g0041	2	96	0.0208	28	c.310 others(47): Show c.310+10683_310+10684insTGTGTGTGTGTGTGTGTGTGTGCGCG CG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235764770	C C	CCCGTGGG others(21): Show CCCGTGGGGTTGGGGGCATCTGGGAGCGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02818.hp2 HG03098.hp2 others(2): Show HG01358.hp2 HG02818.hp2 HG03098.hp2 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0018 a0001c0001 a0001c0002 a0001c0018	a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0018t0049	a0001c0001t0002g0002 a0001c0001t0002g0049 a0001c0002t0001g0013 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0049 a0001c0002t0001g0013 a0001c0002t0004g0077 a0001c0018t0049g0080	5	90	0.0556	28	c.673 others(47): Show c.673+14309_673+14336dupGTCCGTGGGGTTGGGGGCATCTGGGA GC	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	236025908	G G	GTGGGTGG others(21): Show GTGGGTGGGTGGGTGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp2 HG03098.hp2 others(4): Show HG02717.hp1 HG02818.hp2 HG03098.hp2 HG03195.hp2 HG03486.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0001c0018	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0001c0002t0004 a0001c0008t0001 a0001c0018t0049	a0001c0001t0002g0049 a0001c0001t0003g0036 a0001c0001t0007g0008 others(4): Show a0001c0001t0002g0049 a0001c0001t0003g0036 a0001c0001t0007g0008 a0001c0002t0001g0004 a0001c0002t0004g0077 a0001c0008t0001g0061 a0001c0018t0049g0080	7	42	0.1667	28	c.164 others(49): Show c.1646-10650_1646-10649insGTGGGTGGGTGGATGGATGGATGG ATGG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	236025908	G G	GTGGGTGG others(21): Show GTGGGTGGGTGGGTGGGTGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG01168.hp1 others(12): Show HG00438.hp2 HG00642.hp1 HG01168.hp1 HG01496.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02615.hp1 HG02622.hp2 HG02809.hp2 NA19011.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0004 a0002c0007 a0002c0020	a0001c0001t0027 a0001c0002t0001 a0001c0002t0014 others(11): Show a0001c0001t0027 a0001c0002t0001 a0001c0002t0014 a0001c0002t0032 a0001c0002t0034 a0001c0002t0043 a0001c0003t0022 a0001c0006t0001 a0001c0006t0006 a0002c0004t0001 a0002c0004t0029 a0002c0007t0018 a0002c0007t0023 a0002c0020t0001	a0001c0001t0027g0062 a0001c0002t0001g0010 a0001c0002t0001g0027 others(12): Show a0001c0001t0027g0062 a0001c0002t0001g0010 a0001c0002t0001g0027 a0001c0002t0014g0073 a0001c0002t0032g0051 a0001c0002t0034g0084 a0001c0002t0043g0064 a0001c0003t0022g0055 a0001c0006t0001g0016 a0001c0006t0006g0019 a0002c0004t0001g0082 a0002c0004t0029g0083 a0002c0007t0018g0028 a0002c0007t0023g0085 a0002c0020t0001g0022	15	50	0.3000	28	c.164 others(49): Show c.1646-10650_1646-10649insGTGGGTGGGTGGGTGGATGGATGG ATGG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	236025908	G G	GTGGGTGG others(21): Show GTGGGTGGGTGGGTGGGTGGGTGGATGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG02647.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0042 a0001c0002t0038 a0001c0002t0042	a0001c0002t0038g0086 a0001c0002t0042g0067 a0001c0002t0038g0086 a0001c0002t0042g0067	2	37	0.0541	28	c.164 others(49): Show c.1646-10650_1646-10649insGTGGGTGGGTGGGTGGGTGGATGG ATGG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP3_chr7_151081475_151149434	151105792	C C	CCACACAC others(21): Show CCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	44	0.0227	28	c.332 others(47): Show c.332-10988_332-10961dupCACACACACACACACACACACACACA CA	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGBL1_chr15_86074871_86921156	86286735	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA20300.hp1 HG02257.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0053 a0003c0026 a0001c0053 a0003c0026	a0001c0053t0008 a0003c0026t0023 a0001c0053t0008 a0003c0026t0023	a0001c0053t0008g0012 a0003c0026t0023g0050 a0001c0053t0008g0012 a0003c0026t0023g0050	2	73	0.0274	28	c.222 others(47): Show c.2220+6953_2220+6954insGTATATATATATATATATATATATAT AT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86286735	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01255.hp1 HG02896.hp2 others(1): Show HG00323.hp2 HG01255.hp1 HG02896.hp2 NA19043.hp1	a0001 a0021 a0001 a0021	a0001c0001 a0001c0004 a0021c0038 a0001c0001 a0001c0004 a0021c0038	a0001c0001t0003 a0001c0001t0006 a0001c0004t0020 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0004t0020 a0021c0038t0013	a0001c0001t0003g0104 a0001c0001t0006g0093 a0001c0004t0020g0078 others(1): Show a0001c0001t0003g0104 a0001c0001t0006g0093 a0001c0004t0020g0078 a0021c0038t0013g0091	4	75	0.0533	28	c.222 others(47): Show c.2220+6953_2220+6954insGTGTATATATATATATATATATATAT AT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86735653	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0009 a0001c0055t0009	a0001c0055t0009g0064 a0001c0055t0009g0064	1	90	0.0111	28	c.315 others(49): Show c.3158+61218_3158+61219insTATATATATATATATATATATATA TATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL2_chr11_47654591_47720369	47678343	A A	ATTATTAT others(21): Show ATTATTATTATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0022 a0002c0002t0002g0022	1	273	0.0037	28	c.201 others(45): Show c.2017-943_2017-942insAAAAAAAAAAAAAAAAAAATAATAATAA	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	13/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47678343	A A	ATTATTTT others(21): Show ATTATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01358.hp1 HG02004.hp1 others(8): Show HG00673.hp2 HG01358.hp1 HG02004.hp1 HG02074.hp1 HG02083.hp1 NA18944.hp1 NA18979.hp2 NA18993.hp1 NA19009.hp2 NA19055.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0082 others(8): Show a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0108 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0116 a0002c0002t0002g0119 a0002c0002t0002g0120	11	283	0.0389	28	c.201 others(45): Show c.2017-943_2017-942insAAAAAAAAAAAAAAAAAAAAAAAAATAA	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	13/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0031 a0002c0002t0002g0031	1	8	0.1250	28	c.848 others(43): Show c.848+373_848+374insATATATATATTTTTTTTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0042 a0002c0002t0002g0042	1	8	0.1250	28	c.848 others(43): Show c.848+373_848+374insATATATATATATTTTTTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03669.hp1 NA18949.hp2 HG02109.hp2 HG03669.hp1 NA18949.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0200 a0002c0002t0002g0024 a0002c0002t0002g0062 a0001c0001t0001g0200 a0002c0002t0002g0024 a0002c0002t0002g0062	3	10	0.3000	28	c.848 others(43): Show c.848+373_848+374insATATATATATATATTTTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar

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