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
ABCA3_chr16_2270881_2345728	2282574	AGCACCCC others(67): Show AGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGG CACCACCTCTGCTCAGCAGGACTGG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19057.hp2 HG03209.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0055 a0001c0001t0002g0192 a0001c0001t0001g0055 a0001c0001t0002g0192	2	252	0.0079	-74	c.403 others(91): Show c.4035+538_4035+611delCCAGTCCTGCTGAGCAGAGGTGGTGCCC AGGGACACCCAGTGCCCGGAGGAGGGGATGTGGGGCTGAGGGGTGC	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	26/32			chr16	TogoVar
ABCA3_chr16_2270881_2345728	2282726	CCCCTCAG others(67): Show CCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACC ACCTCTGCTCAGCAGGACTGGGCAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	252	0.0040	-74	c.403 others(91): Show c.4035+386_4035+459delTTGCCCAGTCCTGCTGAGCAGAGGTGGT GCCCAGGGACACCCAGTGCCCGGAGGAGGGGATGTGGGGCTGAGGG	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	26/32			chr16	TogoVar
ABHD12B_chr14_50867053_50909970	50870956	AAAGAAAG others(67): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0170 a0002c0002t0005g0170	1	376	0.0027	-74	c.-12 others(85): Show c.-1218_-1145delAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1096		chr14	TogoVar
ACAP3_chr1_1287391_1312930	1288206	TGTCTCTG others(67): Show TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	295	0.0034	-74	c.52 others(85): Show c.5284_*5357delTCGGGGGACGGAGCAGAGACACGGGACGGAGCAG AGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4184		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288273	TCCCCCGA others(67): Show TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCCCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 NA19002.hp2 NA19079.hp1 HG04115.hp2 NA19002.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0013 a0001c0002t0001 a0001c0003t0002 a0001c0001t0013 a0001c0002t0001 a0001c0003t0002	a0001c0001t0013g0128 a0001c0002t0001g0044 a0001c0003t0002g0119 a0001c0001t0013g0128 a0001c0002t0001g0044 a0001c0003t0002g0119	3	295	0.0102	-74	c.52 others(85): Show c.5217_*5290delGGACGGGGCAGAGACACGGGACGGAGCAGGGACA CGGGACGGAGCAGACACGGGACGGAGCAGAGACTCGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4117		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288732	CTCCGTCC others(67): Show CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCCCTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	295	0.0034	-74	c.47 others(85): Show c.4758_*4831delACAGGGACACGGGGGACGGAGCAGAGACACGGGA CGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3658		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288757	CCGTGTCC others(67): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGT TCCGTCCCCCGAGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	295	0.0034	-74	c.47 others(85): Show c.4733_*4806delACGGAGCAGAGACTCGGGGGACGGAACAGGGACA CGGGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3633		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288775	CCGTGTCT others(67): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	295	0.0034	-74	c.47 others(85): Show c.4715_*4788delACGGAGCAGAGACACGGGACGGAGCAGAGACTCG GGGGACGGAACAGGGACACGGGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3615		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288862	CTCCGTCC others(67): Show CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCCCTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	295	0.0034	-74	c.46 others(85): Show c.4628_*4701delACAGGGACACGGGGGACGGAGCAGAGACACGGGA CGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3528		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288887	CCGTGTCC others(67): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGT TCCGTCCCCCGAGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0211 a0003c0004t0001g0211	1	295	0.0034	-74	c.46 others(85): Show c.4603_*4676delACGGAGCAGAGACTCGGGGGACGGAACAGGGACA CGGGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3503		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289055	CCGTGTCT others(67): Show CCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0119 a0001c0003t0002g0119	1	295	0.0034	-74	c.44 others(85): Show c.4435_*4508delACGGAGCAGGGACACGGGACGGAGCAGGGACACG GGGGACGGAGCAGAGACTCGGGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3335		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289131	CCGTGTCT others(67): Show CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	295	0.0034	-74	c.43 others(85): Show c.4359_*4432delACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGGGACGGAGCAGGGACACGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3259		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289207	CCGTGTCT others(67): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA19087.hp2 NA18954.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	295	0.0068	-74	c.42 others(85): Show c.4283_*4356delACGGAGCAGGGACACGGGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3183		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289460	TCTGCCCC others(67): Show TCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	295	0.0034	-74	c.40 others(85): Show c.4030_*4103delGGACACGGGACGGAGCAGACACGGGGGACGGAGC AGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2930		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290117	TCTGCTCC others(67): Show TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	295	0.0034	-74	c.33 others(85): Show c.3373_*3446delGGACACGGGACGGAGCAGGGACACGGGACGGAGC AGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2273		chr1	TogoVar
ACOX1_chr17_75936507_75984166	75967623	TATATATA others(67): Show TATATATACATACATATATATACGTATATATATACATACATATATATACA TATATATACGTATATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19030.hp1 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0319 a0001c0008t0004g0335 a0001c0008t0004g0319 a0001c0008t0004g0335	2	344	0.0058	-74	c.270 others(91): Show c.270-7322_270-7249delGTATGTATATATATACGTATATATATGT ATATATATGTATGTATATATATACGTATATATATGTATGTATATAT	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACTN4_chr19_38642649_38736589	38687977	TCTACAAA others(67): Show TCTACAAATGGTCAATAAGCACATGAAAAGGTGTTCGATGTCATTACTAA TTAGGGCAAATCAAAACCATAACCA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00738.hp1 others(21): Show HG00280.hp2 HG00733.hp1 HG00738.hp1 HG01099.hp1 HG01123.hp2 HG01515.hp2 HG01517.hp2 HG01975.hp1 HG02004.hp2 HG02135.hp2 HG02293.hp1 HG03017.hp1 HG03041.hp1 HG03491.hp2 HG03710.hp1 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA18939.hp2 NA18966.hp2 NA18981.hp1 NA19010.hp1 NA19030.hp2 NA20905.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0005 a0001c0004t0013 a0001c0004t0048 others(3): Show a0001c0004t0005 a0001c0004t0013 a0001c0004t0048 a0001c0006t0005 a0001c0006t0046 a0001c0006t0047	a0001c0004t0005g0095 a0001c0004t0005g0222 a0001c0004t0005g0224 others(21): Show a0001c0004t0005g0095 a0001c0004t0005g0222 a0001c0004t0005g0224 a0001c0004t0005g0225 a0001c0004t0005g0227 a0001c0004t0005g0229 a0001c0004t0005g0230 a0001c0004t0005g0231 a0001c0004t0005g0232 a0001c0004t0005g0233 a0001c0004t0005g0240 a0001c0004t0005g0242 a0001c0004t0005g0243 a0001c0004t0005g0244 a0001c0004t0005g0245 a0001c0004t0005g0246 a0001c0004t0013g0228 a0001c0004t0013g0235 a0001c0004t0013g0236 a0001c0004t0013g0241 a0001c0004t0048g0223 a0001c0006t0005g0237 a0001c0006t0046g0238 a0001c0006t0047g0239	24	314	0.0764	-74	c.163 others(93): Show c.163-12587_163-12514delGATGTCATTACTAATTAGGGCAAATC AAAACCATAACCACTACAAATGGTCAATAAGCACATGAAAAGGTGTTC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADAMTS2_chr5_179105853_179350461	179229260	CGAGACCC others(67): Show CGAGACCCCGCTGCCCACTCCCGACGGAGAGGTAATTCCACAAACACGAG ACCCCGCTGCCCACTCCACAAACAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19043.hp1 HG02258.hp2 NA19043.hp1	a0001 a0019 a0001 a0019	a0001c0069 a0019c0083 a0001c0069 a0019c0083	a0001c0069t0002 a0019c0083t0001 a0001c0069t0002 a0019c0083t0001	a0001c0069t0002g0046 a0019c0083t0001g0199 a0001c0069t0002g0046 a0019c0083t0001g0199	2	276	0.0073	-74	c.689 others(93): Show c.689-21619_689-21546delATGTTTGTGGAGTGGGCAGCGGGGTC TCGTGTTTGTGGAATTACCTCTCCGTCGGGAGTGGGCAGCGGGGTCTC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179229388	CGCTGCCC others(67): Show CGCTGCCCACTCCACAAACACGAGACCCCGCTGCCCACTCCCGACGGAGA GGTAATTCCACAAACACGAGACCCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(63): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01069.hp1 HG01257.hp2 HG01261.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03209.hp1 HG03225.hp2 HG03491.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp2 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18954.hp1 NA18957.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18984.hp2 NA18998.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0016 a0017 a0021 a0022 a0024 a0025 a0034	a0001c0001 a0001c0004 a0001c0014 others(34): Show a0001c0001 a0001c0004 a0001c0014 a0001c0018 a0001c0022 a0001c0035 a0001c0067 a0002c0002 a0002c0007 a0002c0008 a0002c0012 a0002c0023 a0002c0028 a0003c0003 a0003c0098 a0003c0106 a0004c0006 a0004c0099 a0005c0019 a0005c0033 a0006c0009 a0006c0011 a0006c0056 a0006c0061 a0007c0005 a0008c0010 a0009c0021 a0010c0078 a0011c0020 a0012c0040 a0016c0025 a0017c0027 a0021c0088 a0022c0089 a0024c0092 a0025c0091 a0034c0066	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(42): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0024 a0001c0004t0001 a0001c0014t0002 a0001c0014t0013 a0001c0018t0002 a0001c0022t0002 a0001c0035t0004 a0001c0067t0004 a0002c0002t0001 a0002c0002t0004 a0002c0007t0002 a0002c0008t0001 a0002c0012t0001 a0002c0012t0007 a0002c0023t0002 a0002c0028t0004 a0003c0003t0002 a0003c0098t0004 a0003c0106t0002 a0004c0006t0001 a0004c0006t0004 a0004c0099t0001 a0005c0019t0003 a0005c0033t0003 a0006c0009t0003 a0006c0011t0003 a0006c0056t0003 a0006c0061t0003 a0007c0005t0003 a0007c0005t0009 a0008c0010t0003 a0009c0021t0009 a0010c0078t0001 a0011c0020t0003 a0012c0040t0001 a0016c0025t0001 a0017c0027t0004 a0021c0088t0003 a0022c0089t0006 a0024c0092t0004 a0025c0091t0002 a0034c0066t0004	a0001c0001t0001g0014 a0001c0001t0001g0049 a0001c0001t0001g0066 others(63): Show a0001c0001t0001g0014 a0001c0001t0001g0049 a0001c0001t0001g0066 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0004g0064 a0001c0001t0004g0103 a0001c0001t0006g0094 a0001c0001t0024g0055 a0001c0004t0001g0146 a0001c0014t0002g0131 a0001c0014t0013g0112 a0001c0018t0002g0161 a0001c0018t0002g0181 a0001c0022t0002g0102 a0001c0035t0004g0022 a0001c0067t0004g0050 a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0059 a0002c0002t0001g0113 a0002c0002t0001g0133 a0002c0002t0004g0107 a0002c0007t0002g0034 a0002c0007t0002g0038 a0002c0008t0001g0150 a0002c0008t0001g0183 a0002c0012t0001g0060 a0002c0012t0007g0120 a0002c0023t0002g0159 a0002c0028t0004g0119 a0003c0003t0002g0269 a0003c0098t0004g0272 a0003c0106t0002g0210 a0004c0006t0001g0262 a0004c0006t0001g0265 a0004c0006t0004g0270 a0004c0099t0001g0226 a0005c0019t0003g0160 a0005c0033t0003g0139 a0006c0009t0003g0027 a0006c0009t0003g0078 a0006c0009t0003g0079 a0006c0011t0003g0153 a0006c0011t0003g0184 a0006c0056t0003g0106 a0006c0061t0003g0039 a0007c0005t0003g0222 a0007c0005t0003g0263 a0007c0005t0009g0242 a0008c0010t0003g0241 a0008c0010t0003g0257 a0009c0021t0009g0093 a0010c0078t0001g0017 a0011c0020t0003g0047 a0011c0020t0003g0096 a0011c0020t0003g0124 a0012c0040t0001g0169 a0016c0025t0001g0101 a0016c0025t0001g0127 a0017c0027t0004g0098 a0021c0088t0003g0214 a0022c0089t0006g0217 a0024c0092t0004g0216 a0025c0091t0002g0218 a0034c0066t0004g0099	66	276	0.2391	-74	c.689 others(93): Show c.689-21747_689-21674delAGGGTCTCGTGTTTGTGGAATTACCT CTCCGTCGGGAGTGGGCAGCGGGGTCTCGTGTTTGTGGAGTGGGCAGC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179229408	CGAGACCC others(67): Show CGAGACCCCGCTGCCCACTCCCGACGGAGAGGTAATTCCACAAACACGAG ACCCTGCTGCCCACTCCACAAACAT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0245 a0008c0010t0003g0245	1	276	0.0036	-74	c.689 others(93): Show c.689-21767_689-21694delATGTTTGTGGAGTGGGCAGCAGGGTC TCGTGTTTGTGGAATTACCTCTCCGTCGGGAGTGGGCAGCGGGGTCTC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179229425	CTCCCGAC others(67): Show CTCCCGACGGAGAGGTAATTCCACAAACACGAGACCCTGCTGCCCACTCC ACAAACATGAGACCCCGCTGCCCAT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0123 a0002c0002t0004g0123	1	276	0.0036	-74	c.689 others(93): Show c.689-21784_689-21711delATGGGCAGCGGGGTCTCATGTTTGTG GAGTGGGCAGCAGGGTCTCGTGTTTGTGGAATTACCTCTCCGTCGGGA	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65319685	GGGAAGGA others(67): Show GGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGA GGGAGGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	204	0.0049	-74	c.122 others(93): Show c.1223+9619_1223+9692delTTCCTTCCTTCCTTCCTTCCCTCCCT CCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCC	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	9/24			chr5	TogoVar
ADARB2_chr10_1172313_1742525	1235744	GATCCACC others(67): Show GATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCA CCACACTGGGCCCCACCATGATCTT	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	106	0.0094	-74	c.136 others(93): Show c.1362-1973_1362-1900delAAGATCATGGTGGGGCCCAGTGTGGT GGCTCTCGCCTGTAATCCCAGCTCTTTGGGGGGCCCAGGCGGGTGGAT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1240076	TCCCCCTC others(67): Show TCCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT CCCCTCTCCCTCCCGGTGTTTACTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02622.hp1 HG02886.hp2 HG00438.hp1 HG02622.hp1 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0001 a0001c0001t0023 a0002c0016t0006 a0001c0001t0001 a0001c0001t0023 a0002c0016t0006	a0001c0001t0001g0065 a0001c0001t0023g0023 a0002c0016t0006g0010 a0001c0001t0001g0065 a0001c0001t0023g0023 a0002c0016t0006g0010	3	106	0.0283	-74	c.136 others(93): Show c.1361+1981_1361+2054delGAGTAAACACCGGGAGGGAGAGGGGA GTAAACACCGGGAGGCAGAGGGGAGTAAACACCGGGAGGCAGAGGGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1653561	CTCCACCC others(67): Show CTCCACCCCACGCCTCATGTGCCTGCAGAGCCACAGTCTCCACCCAACGC CTTCTGTGCCTGCAGAGCCGCAGTG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp2 HG02055.hp1 others(3): Show HG01081.hp1 HG01243.hp2 HG02055.hp1 HG02257.hp2 NA18522.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004	a0001c0001t0029 a0001c0001t0052 a0001c0003t0060 others(3): Show a0001c0001t0029 a0001c0001t0052 a0001c0003t0060 a0002c0002t0002 a0002c0002t0005 a0002c0004t0005	a0001c0001t0029g0031 a0001c0001t0052g0062 a0001c0003t0060g0104 others(3): Show a0001c0001t0029g0031 a0001c0001t0052g0062 a0001c0003t0060g0104 a0002c0002t0002g0043 a0002c0002t0005g0033 a0002c0004t0005g0029	6	106	0.0566	-74	c.100 others(93): Show c.100+83416_100+83489delCACTGCGGCTCTGCAGGCACAGAAGG CGTTGGGTGGAGACTGTGGCTCTGCAGGCACATGAGGCGTGGGGTGGA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRB1_chr8_142444649_142550007	142499720	AGCAGACA others(67): Show AGCAGACAGGGTGAGCTCTCTGGCCCTGAAGGTGAGCAGAGATGGAATAG CTGGGGGTAGCGGGGGCGTGCAAGG	A A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0009 a0009	a0009c0037 a0009c0037	a0009c0037t0002 a0009c0037t0002	a0009c0037t0002g0271 a0009c0037t0002g0271	1	310	0.0032	-74	c.267 others(93): Show c.2675+8906_2675+8979delGCAGACAGGGTGAGCTCTCTGGCCCT GAAGGTGAGCAGAGATGGAATAGCTGGGGGTAGCGGGGGCGTGCAAGG	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30			chr8	TogoVar
ADH4_chr4_99118658_99149297	99147573	ATTGATGT others(67): Show ATTGATGTCTTAGCCCTGATAAGGTAGAGTATTTGTAAAAATGTATAGAT TGCAATTCCTCAGCATTTCACCCAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG01069.hp2 others(56): Show HG00642.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02886.hp1 HG03239.hp1 HG04184.hp2 HG04228.hp2 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp2 NA19062.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19075.hp1 NA19080.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA20752.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0008 a0007c0007 a0001c0001 a0006c0008 a0007c0007	a0001c0001t0001 a0006c0008t0001 a0007c0007t0001 a0001c0001t0001 a0006c0008t0001 a0007c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0035 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0006c0008t0001g0081 a0007c0007t0001g0080	59	338	0.1746	-74	c.-34 others(85): Show c.-3425_-3352delATGGGTGAAATGCTGAGGAATTGCAATCTATACA TTTTTACAAATACTCTACCTTATCAGGGCTAAGACATCAA	ADH4	ENSG00000198099.10	transcript	ENST00000265512.12	protein_coding		3277		chr4	TogoVar
ADIPOQ_chr3_186837710_186863463	186854835	TTTATTCA others(67): Show TTTATTCATTCATTCATCGAGTAACTTTAAAAAAATCATATGCTATGTTC CCAGTCCTGGGGAGCTTCACAAACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0001 a0001c0002t0027g0001	1	484	0.0021	-74	c.13 others(83): Show c.133_*206delTATTCATTCATTCATCGAGTAACTTTAAAAAAATCA TATGCTATGTTCCCAGTCCTGGGGAGCTTCACAAACAT	ADIPOQ	ENSG00000181092.10	transcript	ENST00000320741.7	protein_coding	3/3	133	INFO_REALIGN_3_PRIME	chr3	TogoVar
AGMO_chr7_15195317_15567015	15354313	CGCGTGTA others(67): Show CGCGTGTATATACGTACGCGTGTATATACACGCGTGTATATAGACGTGTG TATATAGACGTGTGTATACACGTGT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0007 a0008c0023t0007	a0008c0023t0007g0227 a0008c0023t0007g0227	1	236	0.0042	-74	c.126 others(95): Show c.1263+11127_1263+11200delACACGTGTATACACACGTCTATAT ACACACGTCTATATACACGCGTGTATATACACGCGTACGTATATACACGC	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15354378	ATACACGT others(67): Show ATACACGTGTGTGTATACACGTGTGTGTACACACGTGTGTGTATACACAC ACGTGTGTGTATACACACGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18906.hp1 HG01109.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0208 a0002c0002t0004g0209 a0002c0002t0004g0208 a0002c0002t0004g0209	2	236	0.0085	-74	c.126 others(95): Show c.1263+11062_1263+11135delCACACACGTGTGTATACACACACG TGTGTGTATACACACACGTGTGTACACACACGTGTATACACACACGTGTA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15354434	GTGTATAC others(67): Show GTGTATACACACGTGTGTGTATACACACGTGTGTGTATACACACGTGTGT ATATACACACGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0002 a0001c0005t0004g0002	1	236	0.0042	-74	c.126 others(95): Show c.1263+11006_1263+11079delTATATATATATACACGTGTGTATA TACACACGTGTGTATACACACACGTGTGTATACACACACGTGTGTATACA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGPAT3_chr21_43860223_43992592	43897540	ATCCCAGA others(67): Show ATCCCAGAGGGGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGACGGGG CGGCCGGGCAGAGGGGCTCCTCACC	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	342	0.0029	-74	c.-11 others(93): Show c.-111-6345_-111-6272delACCTCCCAGAGGGGGCGGCCGGGCAG AGGCGCTCCTCACATCCCAGACGGGGCGGCCGGGCAGAGGGGCTCCTC	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43897640	GCGCTCCT others(67): Show GCGCTCCTCACATCCCAGACGGGGCGGCCGGGCAGAGGGGCTCCTCCCAT CCCAGAGGGGGCGGCTGGGCAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0097 a0001c0001t0006g0097	1	342	0.0029	-74	c.-11 others(93): Show c.-111-6306_-111-6233delATCCCAGACGGGGCGGCCGGGCAGAG GGGCTCCTCCCATCCCAGAGGGGGCGGCTGGGCAGAGACGCTCCTCAC	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
AHRR_chr5_316714_443285	352519	GTTAAATG others(67): Show GTTAAATGGGTCAGCTGTAGGGGATGGTCACTCTGAGGTTAAATAGGTCA GCTGTAGGGGATGGTCACTCTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0172	1	268	0.0037	-74	c.63- others(89): Show c.63-1150_63-1077delTGGTCACTCTGAGTTTAAATGGGTCAGCTG TAGGGGATGGTCACTCTGAGGTTAAATAGGTCAGCTGTAGGGGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AKAP17A_chrX_1586604_1607520	1587723	TTCCCCTC others(67): Show TTCCCCTCCCCTCCTCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCTC CTCCCCTCCCTTCCCTTCCCCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	151	0.0066	-74	c.-40 others(85): Show c.-4065_-3992delTCCCCTCCCCTCCTCTCCCCTCCCTTCCCCTCCC TTCCCCTCCCCTCTCCTCCCCTCCCTTCCCTTCCCCTCTC	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3880		chrX	TogoVar
ALDH16A1_chr19_49448225_49476050	49463631	GGGCTGGG others(67): Show GGGCTGGGGGTCCAGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCT GGACTCCTGGGTCTGAGGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02258.hp1 HG03130.hp2 others(1): Show HG01346.hp1 HG02258.hp1 HG03130.hp2 HG03225.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0002 a0002c0010t0001 a0002c0010t0002	a0002c0010t0001g0225 a0002c0010t0002g0226 a0002c0010t0002g0227 others(1): Show a0002c0010t0001g0225 a0002c0010t0002g0226 a0002c0010t0002g0227 a0002c0010t0002g0228	4	342	0.0117	-74	c.109 others(90): Show c.1099-149_1099-76delAGGCTGGGGGTCCAGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAG	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ALOXE3_chr17_8090900_8123514	8107924	AGAAAGAA others(67): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAGAGAGA GAGAGAGAGAAAGAAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0341 a0002c0004t0001g0341	1	422	0.0024	-74	c.168 others(91): Show c.1684+470_1684+543delCTTCCTTTCTTTCTTTCTCTCTCTCTCT CTCTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
AMPH_chr7_38378704_38636373	38571019	ATTCATAT others(67): Show ATTCATATATTGAATATATATAGAATATATATATTCATATATTGAATATA TATAGAATATATATATTCATATATT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03486.hp1 HG03579.hp1 HG00741.hp1 HG03486.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0005t0006 a0001c0003t0002 a0001c0005t0006	a0001c0003t0002g0127 a0001c0005t0006g0126 a0001c0005t0006g0128 a0001c0003t0002g0127 a0001c0005t0006g0126 a0001c0005t0006g0128	3	288	0.0104	-74	c.70- others(91): Show c.70-36082_70-36009delAATATATGAATATATATATTCTATATAT ATTCAATATATGAATATATATATTCTATATATATTCAATATATGAA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANKRD30B_chr18_14743172_14859667	14857940	AGGCAGAG others(67): Show AGGCAGAGGCGCTCCTCACCTCCCAGATGGGGCAGCCGGGCAGAGGCGCT CCTCACCTCCCAGATGGGGAGGCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	316	0.0032	-74	c.37 others(85): Show c.3783_*3856delGGCAGAGGCGCTCCTCACCTCCCAGATGGGGCAG CCGGGCAGAGGCGCTCCTCACCTCCCAGATGGGGAGGCTG	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding		3274		chr18	TogoVar
ANO2_chr12_5557655_5950259	5928843	CTTTCCTT others(67): Show CTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTAT CTTCTTTCCTTACTCGTCTACCTTA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0132 a0001c0002t0002g0132	1	162	0.0062	-74	c.23- others(89): Show c.23-6113_23-6040delTAAGGTAGACGAGTAAGGAAAGAAGATAGA CTAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAA	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5928850	TATTAGTC others(67): Show TATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTATCTTCTTT CCTTACTCGTCTACCTTATTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0147 a0002c0003t0002g0147	1	162	0.0062	-74	c.23- others(89): Show c.23-6120_23-6047delGAGGAAATAAGGTAGACGAGTAAGGAAAGA AGATAGACTAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAAT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5928903	TACTCGTC others(67): Show TACTCGTCTACCTTATTTCCTCATTAGTCACTTTCTTACCAGTCTTCCTT CCTTACTAGTCTATCTTCTTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00438.hp2 others(37): Show HG00140.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01070.hp1 HG01074.hp1 HG01099.hp2 HG01168.hp2 HG01169.hp2 HG01346.hp2 HG01952.hp2 HG02080.hp1 HG02129.hp2 HG02451.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03688.hp2 HG04204.hp1 NA18982.hp1 NA18991.hp1 NA18993.hp1 NA18998.hp2 NA19091.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0001 a0001c0002 a0001c0005 others(9): Show a0001c0001 a0001c0002 a0001c0005 a0001c0024 a0002c0003 a0002c0006 a0002c0019 a0003c0004 a0003c0007 a0003c0011 a0003c0018 a0013c0025	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0005t0002 a0001c0005t0005 a0001c0024t0001 a0002c0003t0001 a0002c0003t0002 a0002c0006t0001 a0002c0019t0001 a0003c0004t0001 a0003c0007t0001 a0003c0011t0001 a0003c0018t0004 a0013c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0003g0015 a0001c0001t0003g0021 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0043 a0001c0005t0002g0134 a0001c0005t0005g0162 a0001c0024t0001g0074 a0002c0003t0001g0025 a0002c0003t0002g0141 a0002c0006t0001g0019 a0002c0019t0001g0023 a0003c0004t0001g0002 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0032 a0003c0004t0001g0034 a0003c0004t0001g0040 a0003c0004t0001g0078 a0003c0004t0001g0109 a0003c0007t0001g0037 a0003c0007t0001g0039 a0003c0007t0001g0041 a0003c0007t0001g0042 a0003c0011t0001g0031 a0003c0018t0004g0038 a0013c0025t0001g0033	40	162	0.2469	-74	c.23- others(89): Show c.23-6173_23-6100delGAGGAAAGAAGATAGACTAGTAAGGAAGGA AGACTGGTAAGAAAGTGACTAATGAGGAAATAAGGTAGACGAGT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5929301	TTCTTACC others(67): Show TTCTTACCAGTCTTCCTTCCTTACTAGTCTATCTTCTTTCCTCACTCGTC TGCCTTCTTTCCTTATTAGTCACTC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	162	0.0062	-74	c.23- others(89): Show c.23-6571_23-6498delGAGTGACTAATAAGGAAAGAAGGCAGACGA GTGAGGAAAGAAGATAGACTAGTAAGGAAGGAAGACTGGTAAGA	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5929792	ACCTTCTT others(67): Show ACCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAG TCTACCTTCTTTCCTCACTCGTCTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01071.hp1 others(15): Show HG00738.hp2 HG01070.hp2 HG01071.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02717.hp1 HG02723.hp1 HG03704.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0001c0016 a0002c0003 others(4): Show a0001c0001 a0001c0016 a0002c0003 a0002c0006 a0003c0004 a0003c0011 a0011c0021	a0001c0001t0001 a0001c0001t0002 a0001c0016t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0016t0002 a0002c0003t0002 a0002c0006t0002 a0003c0004t0002 a0003c0011t0001 a0011c0021t0002	a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0069 others(15): Show a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0152 a0001c0001t0002g0159 a0001c0016t0002g0157 a0002c0003t0002g0155 a0002c0003t0002g0158 a0002c0003t0002g0160 a0002c0003t0002g0161 a0002c0006t0002g0154 a0003c0004t0002g0150 a0003c0004t0002g0151 a0003c0011t0001g0072 a0011c0021t0002g0153	18	162	0.1111	-74	c.23- others(89): Show c.23-7062_23-6989delCAGACGAGTGAGGAAAGAAGGTAGACTAGT AAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGG	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5929858	ACTCGTCT others(67): Show ACTCGTCTGCCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTC CTTACTAGTCTACCTTCTTTCCTCT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0032 a0003c0004t0001g0032	1	162	0.0062	-74	c.23- others(89): Show c.23-7128_23-7055delAGAGGAAAGAAGGTAGACTAGTAAGGAAGG AAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGCAGACGAG	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5930068	CCTTCTTT others(67): Show CCTTCTTTCCTCACTCGTCTACCTTCTTTCCTTATTAGTCACTTTCTTAC CAGTCTTCCTTCCTTACTAGTCTGT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0007 a0001c0020t0001g0007	1	162	0.0062	-74	c.23- others(89): Show c.23-7338_23-7265delACAGACTAGTAAGGAAGGAAGACTGGTAAG AAAGTGACTAATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAG	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ARAP2_chr4_36061004_36249514	36156351	GAGAGAGG others(67): Show GAGAGAGGGAGGGAGGGAGGGAGGGGGAAAGAGAGAGAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01361.hp1 HG01516.hp1 others(13): Show HG00438.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp2 HG02080.hp1 HG02258.hp2 HG02273.hp2 HG02723.hp1 HG03098.hp1 HG03195.hp1 HG03654.hp1 HG03942.hp1 NA18939.hp1 NA18993.hp1 NA19065.hp2 NA20905.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0008 a0007c0010 a0001c0001 a0004c0008 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0004c0008t0001 a0007c0010t0001	a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0050 others(13): Show a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0078 a0001c0001t0001g0114 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0236 a0001c0001t0002g0174 a0001c0001t0002g0225 a0001c0001t0005g0051 a0004c0008t0001g0204 a0007c0010t0001g0237	16	278	0.0576	-74	c.275 others(93): Show c.2752+2305_2752+2378delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTCTCTCTCTCTTTCCCCCTCCCTCCCTCCCTCCCTCTCT	ARAP2	ENSG00000047365.13	transcript	ENST00000303965.9	protein_coding	15/32			chr4	TogoVar
ASTN1_chr1_176856067_177169712	177149309	TATATATA others(67): Show TATATATATAGTATATATATAGTAAATATATATATAGTATATATATAGTA AATATATATATAGTATATATAGTAA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02486.hp2 others(7): Show HG01070.hp1 HG01071.hp2 HG02486.hp2 HG02630.hp2 HG02896.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03579.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0007 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0002c0007t0001 a0002c0011t0001	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0035 others(7): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0002g0012 a0001c0001t0002g0033 a0001c0002t0002g0032 a0001c0003t0001g0034 a0001c0003t0002g0018 a0002c0007t0001g0011 a0002c0011t0001g0015	10	112	0.0893	-74	c.283 others(93): Show c.283+15011_283+15084delTTACTATATATACTATATATATATTT ACTATATATATACTATATATATATTTACTATATATATACTATATATAT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ATL2_chr2_38288954_38382273	38325661	TACACACA others(67): Show TACACACACACACACACACACACACACACACACACCAGTACACACACACA CACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01243.hp1 HG01884.hp1 others(20): Show HG00738.hp2 HG01243.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02486.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0005 a0003c0004 a0003c0005	a0003c0004t0003 a0003c0004t0008 a0003c0004t0013 others(7): Show a0003c0004t0003 a0003c0004t0008 a0003c0004t0013 a0003c0004t0021 a0003c0004t0026 a0003c0004t0027 a0003c0005t0001 a0003c0005t0003 a0003c0005t0008 a0003c0005t0028	a0003c0004t0003g0029 a0003c0004t0003g0033 a0003c0004t0003g0034 others(20): Show a0003c0004t0003g0029 a0003c0004t0003g0033 a0003c0004t0003g0034 a0003c0004t0003g0036 a0003c0004t0003g0037 a0003c0004t0003g0039 a0003c0004t0003g0040 a0003c0004t0003g0041 a0003c0004t0003g0042 a0003c0004t0003g0043 a0003c0004t0008g0035 a0003c0004t0008g0038 a0003c0004t0013g0049 a0003c0004t0021g0032 a0003c0004t0026g0030 a0003c0004t0027g0031 a0003c0005t0001g0046 a0003c0005t0001g0047 a0003c0005t0001g0048 a0003c0005t0003g0027 a0003c0005t0003g0028 a0003c0005t0008g0045 a0003c0005t0028g0006	23	236	0.0975	-74	c.364 others(91): Show c.364-6716_364-6643delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTACTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATP5ME_chr4_667436_679276	668886	TGCTATTC others(67): Show TGCTATTCCCCTACCCCATGCTGCTCCCACTACCCCACGCTATTCCCCTA CCCCATGCTGCTCCCACTACCCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01261.hp1 HG01358.hp2 others(2): Show HG00642.hp1 HG01261.hp1 HG01358.hp2 HG02622.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	5	394	0.0127	-74	c.35 others(85): Show c.3540_*3613delGTGGGGTAGTGGGAGCAGCATGGGGTAGGGGAAT AGCGTGGGGTAGTGGGAGCAGCATGGGGTAGGGGAATAGC	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		3549		chr4	TogoVar

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