Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
ADGRG7_chr3_100604601_100700479	100605853	TTCCTTCC others(33): Show TTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0009 a0003c0003t0001g0009	1	334	0.0030	-40	c.-40 others(51): Show c.-4003_-3964delTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCCTT CCTTCC	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding		3747		chr3	TogoVar
ADGRG7_chr3_100604601_100700479	100605884	CCTTCCTT others(33): Show CCTTCCTTCCTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG02698.hp2 HG01943.hp2 HG02698.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0133 a0003c0003t0001g0253 a0003c0003t0001g0133 a0003c0003t0001g0253	2	319	0.0063	-40	c.-39 others(51): Show c.-3972_-3933delCTTCCTTCCTTCTTTCTCTCTCTCTCTCTCTCTC TCTCTT	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding		3716		chr3	TogoVar
ADGRL3_chr4_61195326_62083335	61432573	CCTTTCTT others(33): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0031 a0001c0005t0005g0031	1	25	0.0400	-40	c.-17 others(61): Show c.-174+49429_-174+49468delCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADI1_chr2_3492366_3524531	3503308	GACACGCA others(33): Show GACACGCACATTCACACACATGCACACATACACACGTACTC	G G	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	291	0.0034	-40	c.241 others(57): Show c.241-2355_241-2316delGAGTACGTGTGTATGTGTGCATGTGTGT GAATGTGCGTGT	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	2/3			chr2	TogoVar
ADK_chr10_74146221_74714290	74300271	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02004.hp1 HG02273.hp2 others(5): Show HG01934.hp2 HG02004.hp1 HG02273.hp2 HG02895.hp1 HG02897.hp2 HG03130.hp2 NA18941.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0023 others(5): Show a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0068 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0002c0003t0002g0058	8	192	0.0417	-40	c.195 others(59): Show c.195-14356_195-14317delTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTC	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114360485	CTAGATAG others(33): Show CTAGATAGATAGATAGATAGATAGTTAGATAGATAGATAGA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0238 a0001c0002t0005g0238	1	199	0.0050	-40	c.17- others(57): Show c.17-19794_17-19755delTCTATCTATCTATCTAACTATCTATCTA TCTATCTATCTA	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	1/18			chr10	TogoVar
AFAP1_chr4_7753714_7944861	7756520	TGACCCGA others(33): Show TGACCCGAGGGCCAGAAGGTGGGCTTGGTCTGTGCACCATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG00639.hp1 others(37): Show HG00323.hp1 HG00609.hp2 HG00639.hp1 HG01081.hp2 HG01255.hp1 HG01257.hp1 HG01361.hp2 HG01515.hp1 HG01884.hp2 HG01943.hp2 HG02074.hp2 HG02630.hp2 HG02809.hp2 HG03098.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp2 NA18960.hp1 NA18967.hp2 NA18968.hp2 NA18975.hp2 NA18980.hp2 NA18994.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp2 NA19011.hp1 NA19055.hp2 NA19066.hp2 NA19086.hp2 NA19090.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0007 a0001c0017 others(3): Show a0001c0002 a0001c0007 a0001c0017 a0001c0037 a0002c0008 a0005c0019	a0001c0002t0003 a0001c0002t0022 a0001c0002t0028 others(8): Show a0001c0002t0003 a0001c0002t0022 a0001c0002t0028 a0001c0002t0052 a0001c0002t0053 a0001c0002t0074 a0001c0007t0061 a0001c0017t0003 a0001c0037t0003 a0002c0008t0004 a0005c0019t0029	a0001c0002t0003g0029 a0001c0002t0003g0044 a0001c0002t0003g0098 others(37): Show a0001c0002t0003g0029 a0001c0002t0003g0044 a0001c0002t0003g0098 a0001c0002t0003g0099 a0001c0002t0003g0100 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0103 a0001c0002t0003g0104 a0001c0002t0003g0106 a0001c0002t0003g0108 a0001c0002t0003g0110 a0001c0002t0003g0114 a0001c0002t0003g0118 a0001c0002t0003g0120 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0250 a0001c0002t0003g0251 a0001c0002t0003g0274 a0001c0002t0022g0222 a0001c0002t0022g0223 a0001c0002t0028g0016 a0001c0002t0028g0105 a0001c0002t0052g0009 a0001c0002t0053g0303 a0001c0002t0074g0316 a0001c0007t0061g0258 a0001c0017t0003g0112 a0001c0037t0003g0115 a0002c0008t0004g0147 a0005c0019t0029g0191 a0005c0019t0029g0192	40	316	0.1266	-40	c.72 others(51): Show c.7205_*7244delGATGGTGCACAGACCAAGCCCACCTTCTGGCCCT CGGGTC	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding		2193		chr4	TogoVar
AFAP1_chr4_7753714_7944861	7840261	GATGTGTG others(33): Show GATGTGTGTGTGTGTGTGTGTGTGTGTTCCTGGTTTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA20300.hp1 HG02145.hp2 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0271 a0001c0004t0007g0309 a0001c0004t0007g0271 a0001c0004t0007g0309	2	315	0.0063	-40	c.547 others(57): Show c.547-1598_547-1559delAAAACAAACCAGGAACACACACACACAC ACACACACACAT	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	5/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7840265	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTTCCTGGTTTGTTTTTGGG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01099.hp1 HG01261.hp2 others(13): Show HG01069.hp2 HG01099.hp1 HG01261.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02132.hp2 HG02523.hp1 HG02683.hp2 HG03516.hp2 HG06807.hp1 NA18906.hp2 NA18954.hp2 NA18980.hp1 NA19064.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0001c0021 a0001c0026 a0003c0027	a0001c0001t0001 a0001c0002t0069 a0001c0004t0006 others(6): Show a0001c0001t0001 a0001c0002t0069 a0001c0004t0006 a0001c0004t0007 a0001c0004t0011 a0001c0015t0037 a0001c0021t0006 a0001c0026t0005 a0003c0027t0005	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0002t0069g0265 others(13): Show a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0002t0069g0265 a0001c0004t0006g0063 a0001c0004t0006g0075 a0001c0004t0006g0076 a0001c0004t0007g0269 a0001c0004t0007g0272 a0001c0004t0007g0305 a0001c0004t0011g0280 a0001c0004t0011g0283 a0001c0004t0011g0301 a0001c0015t0037g0050 a0001c0021t0006g0282 a0001c0026t0005g0144 a0003c0027t0005g0138	16	264	0.0606	-40	c.547 others(57): Show c.547-1602_547-1563delCCCAAAAACAAACCAGGAACACACACAC ACACACACACAC	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	5/17			chr4	TogoVar
AFF1_chr4_86930011_87146039	86995957	GGCCGCCC others(33): Show GGCCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01069.hp1 others(14): Show HG00323.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01496.hp2 HG01981.hp1 HG02257.hp2 HG02738.hp2 HG03669.hp2 HG03834.hp1 HG03942.hp2 NA20300.hp1 NA20905.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0010 a0011c0022 a0001c0001 a0001c0010 a0011c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0024 a0001c0001t0057 a0001c0010t0006 a0001c0010t0053 a0011c0022t0006	a0001c0001t0001g0079 a0001c0001t0002g0074 a0001c0001t0006g0075 others(14): Show a0001c0001t0001g0079 a0001c0001t0002g0074 a0001c0001t0006g0075 a0001c0001t0006g0076 a0001c0001t0006g0077 a0001c0001t0006g0078 a0001c0001t0006g0080 a0001c0001t0006g0088 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0007g0083 a0001c0001t0024g0082 a0001c0001t0024g0087 a0001c0001t0057g0084 a0001c0010t0006g0085 a0001c0010t0053g0086 a0011c0022t0006g0089	17	292	0.0582	-40	c.38+ others(57): Show c.38+47423_38+47462delGGCAGCCGCCCCGTCTGAGAAGTGAGGA GCCCCTCCGCCC	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF2_chrX_148495617_149005663	148773681	GGAAGGAA others(33): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0153 a0001c0001t0029g0153	1	146	0.0068	-40	c.104 others(61): Show c.1042-36191_1042-36152delGGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148897233	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19091.hp1 NA19066.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0017 a0001c0001t0001g0018	2	167	0.0120	-40	c.136 others(59): Show c.1360-6982_1360-6943delATATATATATATATATATATATATAT ATATATATGTATAT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	8/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF3_chr2_99540419_100147590	99626446	CCTTCCCC others(33): Show CCTTCCCCTTCCTTCCTTCCTCCCTCCCTCCCTCTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp2 HG00639.hp1 others(18): Show HG00099.hp2 HG00609.hp2 HG00639.hp1 HG01081.hp1 HG01167.hp2 HG01169.hp1 HG01261.hp2 HG01358.hp1 HG01884.hp1 HG02258.hp1 HG02630.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0008 others(2): Show a0001c0001 a0001c0005 a0001c0008 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0005t0001 a0001c0005t0003 a0001c0005t0009 a0001c0008t0005 a0001c0009t0021 a0002c0002t0002 a0002c0002t0005 a0002c0002t0011 a0002c0002t0018 a0002c0002t0023 a0002c0002t0035	a0001c0001t0001g0020 a0001c0001t0002g0036 a0001c0001t0004g0041 others(18): Show a0001c0001t0001g0020 a0001c0001t0002g0036 a0001c0001t0004g0041 a0001c0001t0024g0058 a0001c0001t0026g0056 a0001c0001t0028g0061 a0001c0001t0031g0049 a0001c0005t0001g0070 a0001c0005t0003g0071 a0001c0005t0009g0016 a0001c0008t0005g0079 a0001c0009t0021g0015 a0002c0002t0002g0021 a0002c0002t0002g0028 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0005g0029 a0002c0002t0011g0040 a0002c0002t0018g0013 a0002c0002t0023g0054 a0002c0002t0035g0087	21	98	0.2143	-40	c.118 others(61): Show c.1184+23140_1184+23179delAGAAGGAGAGGGAGGGAGGGAGGA AGGAAGGAAGGGGAAG	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	13/24			chr2	TogoVar
AFF3_chr2_99540419_100147590	100037540	ATATTTAT others(33): Show ATATTTATATTTTATATATTATTTATATATAAATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA20300.hp2 HG02976.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0006 a0001c0001t0001 a0003c0006t0006	a0001c0001t0001g0023 a0003c0006t0006g0052 a0001c0001t0001g0023 a0003c0006t0006g0052	2	98	0.0204	-40	c.54- others(57): Show c.54-28648_54-28609delAATATATATTTATATATAAATAATATAT AAAATATAAATA	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	4/24			chr2	TogoVar
AGAP1_chr2_235489043_236136793	235525294	GATACATA others(33): Show GATACATAATGTGGAGGACTGATACATAATGTGGAGGACTA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01928.hp2 HG02080.hp2 others(19): Show HG00438.hp1 HG01928.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03831.hp2 HG04199.hp1 HG04199.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0014 a0001c0017 a0002c0007	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(18): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0026 a0001c0001t0048 a0001c0002t0001 a0001c0002t0006 a0001c0002t0014 a0001c0002t0038 a0001c0002t0043 a0001c0003t0009 a0001c0003t0020 a0001c0003t0022 a0001c0005t0004 a0001c0009t0015 a0001c0009t0017 a0001c0014t0016 a0001c0017t0008 a0002c0007t0005 a0002c0007t0008	a0001c0001t0005g0012 a0001c0001t0007g0008 a0001c0001t0008g0069 others(19): Show a0001c0001t0005g0012 a0001c0001t0007g0008 a0001c0001t0008g0069 a0001c0001t0011g0098 a0001c0001t0026g0095 a0001c0001t0048g0054 a0001c0002t0001g0068 a0001c0002t0006g0093 a0001c0002t0014g0052 a0001c0002t0038g0086 a0001c0002t0043g0064 a0001c0003t0009g0096 a0001c0003t0020g0053 a0001c0003t0022g0055 a0001c0005t0004g0088 a0001c0005t0004g0097 a0001c0009t0015g0038 a0001c0009t0017g0037 a0001c0014t0016g0048 a0001c0017t0008g0092 a0002c0007t0005g0094 a0002c0007t0008g0011	22	98	0.2245	-40	c.163 others(59): Show c.163+30485_163+30524delAATACATAATGTGGAGGACTGATACA TAATGTGGAGGACT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGBL1_chr15_86074871_86921156	86636720	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	100	0.0100	-40	c.299 others(61): Show c.2995-37551_2995-37512delTATATATATATATATATATATATA TATATATATATATACA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86636722	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0094 a0001c0001t0011g0094	1	132	0.0076	-40	c.299 others(61): Show c.2995-37547_2995-37508delTATATATATATATATATATATATA TATATATATACACATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGMO_chr7_15195317_15567015	15198234	AGAGAGAG others(33): Show AGAGAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02145.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0113 a0001c0001t0001g0124	2	234	0.0085	-40	c.30 others(51): Show c.3011_*3050delACTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTC TCTCTC	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding		2082		chr7	TogoVar
AGMO_chr7_15195317_15567015	15354367	TAGACGTG others(33): Show TAGACGTGTGTATACACGTGTGTGTATACACGTGTGTGTAC	T T	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0006 a0015c0013t0006	a0015c0013t0006g0229 a0015c0013t0006g0229	1	233	0.0043	-40	c.126 others(61): Show c.1263+11107_1263+11146delGTACACACACGTGTATACACACAC GTGTATACACACGTCT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15354464	GTGTGTAT others(33): Show GTGTGTATACACACGTGTGTATATACACACGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03017.hp2 HG02809.hp2 HG03017.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0021 a0001c0001 a0010c0021	a0001c0001t0003 a0010c0021t0001 a0001c0001t0003 a0010c0021t0001	a0001c0001t0003g0220 a0010c0021t0001g0042 a0001c0001t0003g0220 a0010c0021t0001g0042	2	225	0.0089	-40	c.126 others(61): Show c.1263+11010_1263+11049delTATATATACACGTGTGTATATACA CACGTGTGTATACACA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15354466	GTGTATAC others(33): Show GTGTATACACACGTGTGTATATACACACGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19043.hp2 HG02257.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0007 a0002c0004t0007 a0002c0002t0007 a0002c0004t0007	a0002c0002t0007g0217 a0002c0004t0007g0008 a0002c0002t0007g0217 a0002c0004t0007g0008	2	232	0.0086	-40	c.126 others(61): Show c.1263+11008_1263+11047delTATATATATACACGTGTGTATATA CACACGTGTGTATACA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	ATATATAT others(33): Show ATATATATACTATATATTCTATATATATTCTATATATATTC	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	57	0.0175	-40	c.409 others(59): Show c.409+15094_409+15133delGAATATATATAGAATATATATAGAAT ATATAGTATATATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGR2_chr7_16786811_16809999	16790458	GCGCTCCT others(33): Show GCGCTCCTCACTTCCTAGGTGGGATGGCGGCCAGGCAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02630.hp1 others(3): Show HG01891.hp1 HG02145.hp1 HG02630.hp1 HG02970.hp1 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0164 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0164 a0001c0001t0001g0205	6	458	0.0131	-40	c.24 others(51): Show c.2410_*2449delTCTCTGCCTGGCCGCCATCCCACCTAGGAAGTGA GGAGCG	AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding		1352		chr7	TogoVar
AGR2_chr7_16786811_16809999	16790476	GTGGGATG others(33): Show GTGGGATGGCGGCCAGGCAGAGACGCTCCTCACTTCCTAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(312): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0011	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0021 others(148): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0097 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0221 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0072 a0001c0001t0002g0080 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0108 a0001c0001t0002g0114 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0145 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0210 a0001c0001t0002g0218 a0001c0001t0004g0023 a0001c0001t0004g0037 a0001c0001t0004g0048 a0001c0001t0004g0069 a0001c0001t0004g0083 a0001c0001t0004g0094 a0001c0001t0004g0148 a0001c0001t0004g0167 a0001c0001t0004g0190 a0001c0001t0004g0199 a0001c0001t0004g0212 a0001c0001t0004g0214 a0001c0001t0004g0220 a0001c0001t0004g0228 a0001c0001t0006g0010 a0001c0001t0006g0015 a0001c0001t0006g0086 a0001c0001t0006g0107 a0001c0001t0006g0134 a0001c0001t0008g0025 a0001c0001t0008g0085 a0001c0001t0008g0117 a0001c0001t0008g0192 a0001c0001t0010g0041 a0001c0001t0012g0066 a0001c0001t0013g0149 a0001c0001t0015g0182 a0001c0001t0016g0102 a0001c0001t0019g0231 a0001c0001t0020g0238 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0014 a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0032 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0045 a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0071 a0001c0002t0001g0074 a0001c0002t0001g0084 a0001c0002t0001g0090 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0131 a0001c0002t0001g0135 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0183 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0204 a0001c0002t0001g0207 a0001c0002t0001g0215 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0230 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0002g0141 a0001c0002t0007g0049 a0001c0002t0007g0070 a0001c0002t0007g0109 a0001c0002t0007g0110 a0001c0002t0007g0142 a0001c0002t0007g0219 a0001c0002t0011g0040	315	458	0.6878	-40	c.23 others(51): Show c.2392_*2431delTCTAGGAAGTGAGGAGCGTCTCTGCCTGGCCGCC ATCCCA	AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding		1334		chr7	TogoVar
AGRN_chr1_1015120_1061116	1030406	CTGTGAGA others(33): Show CTGTGAGATCAGCGTGTGTGTGTGTGCAGTGCATGGTGCTG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	208	0.0048	-40	c.464 others(57): Show c.464-4858_464-4819delGTGTGTGTGTGTGCAGTGCATGGTGCTG TGTGAGATCAGC	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AHRR_chr5_316714_443285	345086	GTGTGTGT others(33): Show GTGTGTGTGTGTCAGATGATGTCCCTGGCTGTGTGTGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0024 a0004c0003t0024	a0004c0003t0024g0029 a0004c0003t0024g0029	1	266	0.0038	-40	c.62+ others(55): Show c.62+1134_62+1173delCAGATGATGTCCCTGGCTGTGTGTGGGGAT GTGTGTGTGT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	397354	GTTAGCCC others(33): Show GTTAGCCCCTGACCATCCACGTAGCCCCTGACCATCCATGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG00741.hp2 others(15): Show HG00140.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG02004.hp2 HG02683.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0029 a0001c0001t0056 a0002c0002t0006 others(5): Show a0001c0001t0029 a0001c0001t0056 a0002c0002t0006 a0002c0002t0010 a0002c0002t0019 a0003c0004t0004 a0003c0004t0016 a0003c0004t0028	a0001c0001t0029g0012 a0001c0001t0056g0175 a0002c0002t0006g0007 others(13): Show a0001c0001t0029g0012 a0001c0001t0056g0175 a0002c0002t0006g0007 a0002c0002t0010g0015 a0002c0002t0019g0009 a0003c0004t0004g0002 a0003c0004t0004g0003 a0003c0004t0004g0004 a0003c0004t0004g0005 a0003c0004t0004g0008 a0003c0004t0004g0011 a0003c0004t0004g0014 a0003c0004t0004g0187 a0003c0004t0016g0001 a0003c0004t0028g0006 a0003c0004t0028g0217	18	265	0.0679	-40	c.352 others(59): Show c.352-15988_352-15949delTAGCCCCTGACCATCCACGTAGCCCC TGACCATCCATGTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	417188	TGTCTAGA others(33): Show TGTCTAGAGAAGGTGGCTTGGTCTGTATGTGCAGGGCCCGA	T T	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0019 a0015c0021t0019	a0015c0021t0019g0110 a0015c0021t0019g0110	1	266	0.0038	-40	c.441 others(57): Show c.441+3768_441+3807delTGGCTTGGTCTGTATGTGCAGGGCCCGA GTCTAGAGAAGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	417201	TGGCTTGG others(33): Show TGGCTTGGTCTGTATGTGCAGGGCCCGAGTCTAGAGAAGGC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0201 a0001c0001t0041g0201	1	265	0.0038	-40	c.441 others(57): Show c.441+3793_441+3832delCGAGTCTAGAGAAGGCGGCTTGGTCTGT ATGTGCAGGGCC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	435190	AGTCGGGT others(33): Show AGTCGGGTGATGCTCCCAAGTCCGCAGTCGGGGATGAAGCG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp1 HG02109.hp1 HG02145.hp1 others(12): Show HG01261.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02647.hp2 HG02723.hp1 HG02965.hp1 HG03041.hp2 HG03195.hp1 HG03540.hp1 HG04184.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0013	a0001c0001 a0002c0002 a0004c0003 others(1): Show a0001c0001 a0002c0002 a0004c0003 a0013c0018	a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 others(6): Show a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 a0002c0002t0042 a0004c0003t0009 a0004c0003t0018 a0004c0003t0033 a0004c0003t0037 a0013c0018t0017	a0001c0001t0009g0031 a0001c0001t0017g0035 a0001c0001t0017g0264 others(12): Show a0001c0001t0009g0031 a0001c0001t0017g0035 a0001c0001t0017g0264 a0001c0001t0018g0088 a0001c0001t0018g0106 a0002c0002t0042g0166 a0004c0003t0009g0223 a0004c0003t0009g0225 a0004c0003t0009g0227 a0004c0003t0009g0229 a0004c0003t0009g0243 a0004c0003t0018g0102 a0004c0003t0033g0242 a0004c0003t0037g0240 a0013c0018t0017g0265	15	264	0.0568	-40	c.40 others(49): Show c.406_*445delTGCTCCCAAGTCCGCAGTCGGGGATGAAGCGGTCGG GTGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	11/11	406	INFO_REALIGN_3_PRIME	chr5	TogoVar
AK5_chr1_77277019_77564966	77475406	TGTATATA others(33): Show TGTATATATATACTATATATTATATATATGTATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0085 a0001c0001t0004g0085	1	174	0.0057	-40	c.106 others(59): Show c.1060-7910_1060-7871delGTATATATATACTATATATTATATAT ATGTATATATATTA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13			chr1	TogoVar
AK5_chr1_77277019_77564966	77475465	TTATATAT others(33): Show TTATATATGTATATATATTATATATATACAAATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02257.hp2 HG02615.hp1 HG01106.hp1 HG02257.hp2 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0008 a0001c0001t0001g0064 a0002c0002t0002g0143 a0001c0001t0001g0008 a0001c0001t0001g0064 a0002c0002t0002g0143	3	238	0.0126	-40	c.106 others(59): Show c.1060-7844_1060-7805delGTATATATATTATATATATACAAATA TATATTATATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKAP17A_chrX_1586604_1607520	1588924	TTCCCTTC others(33): Show TTCCCTTCCCTTCTTTCCTCCTATCCCCTCCTCCCCTCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0049 a0002c0003t0002g0049	1	149	0.0067	-40	c.-28 others(51): Show c.-2864_-2825delTCCCTTCCCTTCTTTCCTCCTATCCCCTCCTCCC CTCCCC	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		2679		chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1589139	CTTCCCCT others(33): Show CTTCCCCTCCCCTCCTCTCCCTTCCCCTCCCTTCCCCTCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG02015.hp1 HG03491.hp2 HG01257.hp2 HG02015.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0080 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0080	3	149	0.0201	-40	c.-26 others(51): Show c.-2649_-2610delTTCCCCTCCCCTCCTCTCCCTTCCCCTCCCTTCC CCTCCA	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		2464		chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1589159	CTTCCCCT others(33): Show CTTCCCCTCCCTTCCCCTCCATTCCCCTCCCTTCCCCTCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03195.hp1 HG02559.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0066 a0002c0003t0004g0067 a0002c0003t0004g0066 a0002c0003t0004g0067	2	148	0.0135	-40	c.-26 others(51): Show c.-2629_-2590delTTCCCCTCCCTTCCCCTCCATTCCCCTCCCTTCC CCTCCA	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		2444		chrX	TogoVar
AKT1_chr14_104764349_104800748	104776068	CAGCAGGA others(33): Show CAGCAGGACTCCGCCCCCCCCAAGCAGGACTCCGCCTCCCA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02055.hp1 HG02109.hp2 others(10): Show HG01358.hp1 HG02055.hp1 HG02109.hp2 HG02622.hp1 HG02717.hp2 HG02922.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0016 a0001c0003t0003g0018 a0001c0003t0003g0034 others(5): Show a0001c0003t0003g0016 a0001c0003t0003g0018 a0001c0003t0003g0034 a0001c0003t0003g0230 a0001c0003t0003g0234 a0001c0003t0003g0240 a0001c0003t0003g0244 a0001c0003t0003g0306	13	384	0.0339	-40	c.288 others(55): Show c.288-309_288-270delTGGGAGGCGGAGTCCTGCTTGGGGGGGGCG GAGTCCTGCT	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	5/14			chr14	TogoVar
ALDH3B2_chr11_67657155_67679623	67669093	GTCTTTGT others(33): Show GTCTTTGTGTGTCTGTGTGTCTTTGTGTGGGTGTCTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	388	0.0026	-40	c.-24 others(59): Show c.-244-1498_-244-1459delAACACAGACACCCACACAAAGACACA CAGACACACAAAGA	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9			chr11	TogoVar
ALG6_chr1_63362627_63443553	63400243	ACGTATAT others(33): Show ACGTATATATATGTATATATATATACGTATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00733.hp1 others(80): Show HG00544.hp1 HG00558.hp2 HG00733.hp1 HG00741.hp2 HG01071.hp1 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02080.hp2 HG02083.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02300.hp2 HG02451.hp1 HG02615.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG03704.hp2 HG03942.hp1 HG04199.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18947.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp2 NA18990.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19003.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19056.hp2 NA19057.hp2 NA19059.hp2 NA19065.hp2 NA19072.hp2 NA19080.hp2 NA19086.hp2 NA19087.hp2 NA19091.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0004t0004 a0001c0004t0006 a0003c0005t0003	a0001c0001t0001g0059 a0001c0001t0001g0291 a0001c0001t0002g0005 others(79): Show a0001c0001t0001g0059 a0001c0001t0001g0291 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0024 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0169 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0252 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0271 a0001c0001t0002g0278 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0103 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0149 a0001c0001t0003g0155 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0214 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0223 a0001c0001t0003g0332 a0001c0001t0005g0110 a0001c0001t0008g0065 a0001c0001t0013g0156 a0001c0001t0017g0005 a0001c0001t0019g0148 a0001c0004t0004g0199 a0001c0004t0006g0157 a0001c0004t0006g0197 a0001c0004t0006g0198 a0001c0004t0006g0200 a0001c0004t0006g0225 a0003c0005t0003g0001 a0003c0005t0003g0108 a0003c0005t0003g0142	83	349	0.2378	-40	c.168 others(57): Show c.168-2010_168-1971delCGTATATATATGTATATATATATACGTA TATATATATACG	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14			chr1	TogoVar
ALKBH6_chr19_36004120_36019213	36017675	TGCGAAGA others(33): Show TGCGAAGACCCCATGCCTCGGGGGGCAAGTGAAGTACCGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	390	0.0026	-40	c.-35 others(51): Show c.-3566_-3527delTCCGGTACTTCACTTGCCCCCCGAGGCATGGGGT CTTCGC	ALKBH6	ENSG00000239382.11	transcript	ENST00000378875.8	protein_coding		3463		chr19	TogoVar
ALOX12B_chr17_8067636_8092716	8087219	CACACACA others(33): Show CACACACAGACACACACAGACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	460	0.0022	-40	c.147 others(53): Show c.147+37_147+76delCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGT CTGTGTGT	ALOX12B	ENSG00000179477.11	transcript	ENST00000647874.1	protein_coding	1/14			chr17	TogoVar
ALOX5_chr10_45369216_45451117	45391853	ATCTGAGA others(33): Show ATCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00642.hp1 others(16): Show HG00099.hp1 HG00323.hp2 HG00642.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01516.hp2 HG01517.hp2 HG02004.hp1 HG02083.hp1 HG02622.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0002 a0001c0008t0002 a0001c0001t0001 a0001c0002t0002 a0001c0008t0002	a0001c0001t0001g0079 a0001c0001t0001g0135 a0001c0001t0001g0183 others(15): Show a0001c0001t0001g0079 a0001c0001t0001g0135 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0002t0002g0028 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0008t0002g0311	19	344	0.0552	-40	c.350 others(57): Show c.350-3962_350-3923delTTCTGAGAAGTGAGGAGCCCCTCCGCCC GGCAGCCGCCCC	ALOX5	ENSG00000012779.12	transcript	ENST00000374391.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ALOX5_chr10_45369216_45451117	45391912	CCTCCGCC others(33): Show CCTCCGCCCGGCAGCCGCCCCGTCTGGGAAGTGAGGAGCGT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	344	0.0029	-40	c.350 others(57): Show c.350-3927_350-3888delGCCCCGTCTGGGAAGTGAGGAGCGTCTC CGCCCGGCAGCC	ALOX5	ENSG00000012779.12	transcript	ENST00000374391.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ALOXE3_chr17_8090900_8123514	8107810	CAAGAAAG others(33): Show CAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	C C	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	376	0.0027	-40	c.168 others(57): Show c.1684+618_1684+657delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107954	AAAGAAAG others(33): Show AAAGAAAGGAAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19062.hp2 HG06807.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0026 a0001c0001t0004g0379 a0001c0001t0003g0026 a0001c0001t0004g0379	2	415	0.0048	-40	c.168 others(57): Show c.1684+474_1684+513delCTTTCTTTCTTTCTCTCTCTCTCTCTCT CCTTCCTTTCTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPL_chr1_21504423_21583410	21554788	CCTGTCTG others(33): Show CCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp1 HG02132.hp2 others(11): Show HG00733.hp1 HG01175.hp1 HG02132.hp2 HG02257.hp2 HG02572.hp2 HG03453.hp2 HG03516.hp2 NA18946.hp1 NA18972.hp2 NA18980.hp1 NA18991.hp2 NA19002.hp2 NA19010.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0010	a0001c0001t0002g0222 a0001c0001t0002g0257 a0001c0001t0004g0070 others(11): Show a0001c0001t0002g0222 a0001c0001t0002g0257 a0001c0001t0004g0070 a0001c0001t0004g0165 a0002c0002t0001g0237 a0002c0002t0001g0245 a0002c0002t0001g0250 a0002c0002t0001g0259 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0003g0325 a0002c0002t0010g0279 a0002c0002t0010g0282 a0002c0002t0010g0283	14	75	0.1867	-40	c.61+ others(53): Show c.61+649_61+688delGTCTGTCTGTCTGTCTGTCTGTCTGTCTTTCT TTCTTTCT	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
AMACR_chr5_33981165_34013050	33985965	CGATCACA others(33): Show CGATCACACACATGGCTTCTCTCACACACGTTATTTTACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02451.hp2 HG02559.hp2 others(7): Show HG01099.hp1 HG02451.hp2 HG02559.hp2 HG02630.hp1 HG02976.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03579.hp2	a0001 a0005 a0006 others(3): Show a0001 a0005 a0006 a0015 a0016 a0018	a0001c0001 a0005c0005 a0006c0006 others(3): Show a0001c0001 a0005c0005 a0006c0006 a0015c0016 a0016c0020 a0018c0017	a0001c0001t0001 a0001c0001t0009 a0005c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0009 a0005c0005t0001 a0006c0006t0001 a0015c0016t0001 a0016c0020t0001 a0018c0017t0001	a0001c0001t0001g0018 a0001c0001t0001g0107 a0001c0001t0009g0019 others(5): Show a0001c0001t0001g0018 a0001c0001t0001g0107 a0001c0001t0009g0019 a0005c0005t0001g0194 a0006c0006t0001g0077 a0015c0016t0001g0102 a0016c0020t0001g0189 a0018c0017t0001g0090	10	436	0.0229	-40	c.30 others(51): Show c.3088_*3127delATGTAAAATAACGTGTGTGAGAGAAGCCATGTGT GTGATC	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding		199		chr5	TogoVar
AMZ1_chr7_2683202_2724683	2701348	TGGTAGGG others(33): Show TGGTAGGGACGGGACTGGAACGCAGTTCTATTTGACCCTGG	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	436	0.0023	-40	c.304 others(55): Show c.304+596_304+635delTAGGGACGGGACTGGAACGCAGTTCTATTT GACCCTGGGG	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANAPC16_chr10_72211012_72240860	72218161	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02129.hp1 HG04199.hp2 HG00597.hp1 HG02129.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0266 a0001c0001t0002g0077 a0001c0001t0002g0180 a0001c0001t0001g0266 a0001c0001t0002g0077 a0001c0001t0002g0180	3	287	0.0105	-40	c.-28 others(57): Show c.-28+2025_-28+2064delAAAATATATATATATATATATATATATA TATATATATATA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANGEL2_chr1_212987182_213020867	213017373	AGCACTAT others(33): Show AGCACTATACAGCACAACGCTTGGGGACCATTTTAAACAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	-40	c.-17 others(51): Show c.-1742_-1703delGCTGTTTAAAATGGTCCCCAAGCGTTGTGCTGTA TAGTGC	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding		1507		chr1	TogoVar
ANK1_chr8_41648225_41802622	41650988	GGTGTGTG others(33): Show GGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0072 a0001c0001t0023g0072	1	251	0.0040	-40	c.47 others(51): Show c.4762_*4801delGCGCGCGCGCGCGCGCGCGCGCACACACACACAC ACACAC	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding		2236		chr8	TogoVar

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