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
ACSS3_chr12_81073079_81266210	81251668	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01993.hp1 others(1): Show HG01167.hp2 HG01169.hp1 HG01993.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0028 a0001c0001t0004 a0001c0001t0028	a0001c0001t0004g0093 a0001c0001t0004g0095 a0001c0001t0004g0096 others(1): Show a0001c0001t0004g0093 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0028g0038	4	166	0.0241	16	c.172 others(35): Show c.1720-1638_1720-1623dupAAAAAAAAAAAAAAAA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTG2_chr2_73888008_73924865	73902039	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	231	0.0043	16	c.127 others(31): Show c.127-320_127-319insGTGTGTGTGTGTGTCT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904777	G G	GTGTGTGT others(9): Show GTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0356 a0001c0001t0005g0356	1	259	0.0039	16	c.255 others(33): Show c.255+2290_255+2291insGTGTGTATATATATAT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73906462	T T	TAATAAAT others(9): Show TAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp2 HG02615.hp1 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0049 a0001c0002t0006g0055 a0001c0002t0002g0049 a0001c0002t0006g0055	2	393	0.0051	16	c.256 others(33): Show c.256-2209_256-2208insTAAATAAATAAATAAA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73906483	A A	AATAAATA others(9): Show AATAAATAAATAAATAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	239	0.0042	16	c.256 others(33): Show c.256-2187_256-2186insAATAAATAAATACATA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTL6A_chr3_179557926_179593407	179579455	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG02132.hp1 others(8): Show HG00609.hp1 HG00621.hp2 HG02132.hp1 HG02717.hp1 HG03453.hp2 HG03516.hp1 NA18946.hp1 NA18962.hp1 NA18979.hp2 NA19068.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0060 a0001c0001t0001g0096 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0060 a0001c0001t0001g0096 a0001c0002t0001g0079 a0001c0002t0001g0169 a0001c0002t0001g0174	11	56	0.1964	16	c.769 others(33): Show c.769-1165_769-1150dupCACACACACACACACA	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACTL8_chr1_17750333_17832063	17800583	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp1 HG02572.hp2 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0344 a0001c0003t0003g0354 a0001c0003t0001g0344 a0001c0003t0003g0354	2	128	0.0156	16	c.-24 others(35): Show c.-24-22390_-24-22375dupTTTTTTTTTTTTTTTT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17802424	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0325 a0001c0001t0005g0325	1	214	0.0047	16	c.-24 others(35): Show c.-24-20548_-24-20533dupGTGTGTGTGTGTGTGT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL9_chr19_8692400_8703795	8694853	A A	AAGAGAGA others(9): Show AAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01099.hp1 HG01123.hp1 others(6): Show HG00558.hp1 HG01099.hp1 HG01123.hp1 HG01496.hp2 HG01934.hp1 HG02027.hp1 HG02109.hp1 HG02809.hp2 NA18975.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0004 others(3): Show a0001c0001 a0002c0002 a0002c0004 a0002c0006 a0003c0003 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0002c0006t0001 a0003c0003t0001 a0004c0005t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0004t0001g0000 others(3): Show a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0004t0001g0000 a0002c0006t0001g0000 a0003c0003t0001g0000 a0004c0005t0001g0000	9	60	0.1500	16	c.25 others(27): Show c.2597_*2598insCTCTCTCTCTCTCTCT	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding		2546		chr19	TogoVar
ACTN1_chr14_68869128_68984302	68881955	T T	TTTTTTTT others(9): Show TTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	103	0.0097	16	c.195 others(33): Show c.1953+502_1953+503insTCAAAAAAAAAAAAAA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68954315	A A	AATTTATT others(9): Show AATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	280	0.0036	16	c.105 others(35): Show c.105+24621_105+24636dupAAATAAATAAATAAAT	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236709220	G G	GTGTGTGT others(9): Show GTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG04204.hp1 HG01123.hp2 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0020 a0001c0003t0006 a0001c0003t0020	a0001c0003t0006g0135 a0001c0003t0020g0123 a0001c0003t0006g0135 a0001c0003t0020g0123	2	193	0.0104	16	c.127 others(33): Show c.127-8637_127-8636insGTGTGTGTATATATAT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236709255	T T	TATATATA others(9): Show TATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19057.hp2 HG00621.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0321 a0001c0002t0002g0317 a0001c0001t0001g0321 a0001c0002t0002g0317	2	187	0.0107	16	c.127 others(33): Show c.127-8602_127-8601insTATATATATACACACA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236721015	G G	GGTTTTTT others(9): Show GGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02622.hp1 NA18955.hp1 others(2): Show HG01952.hp2 HG02622.hp1 NA18955.hp1 NA19077.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0001 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0002 a0001c0001t0003g0021 a0001c0001t0003g0027 others(2): Show a0001c0001t0001g0002 a0001c0001t0003g0021 a0001c0001t0003g0027 a0001c0001t0003g0289 a0001c0001t0011g0037	5	136	0.0368	16	c.448 others(31): Show c.448+824_448+825insGTTTTTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	4/20			chr1	TogoVar
ACTN4_chr19_38642649_38736589	38679568	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG04228.hp1 NA18948.hp1 others(2): Show HG00423.hp1 HG04228.hp1 NA18948.hp1 NA18970.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0015 a0001c0001 a0001c0002 a0001c0015	a0001c0001t0003 a0001c0002t0001 a0001c0015t0003 a0001c0001t0003 a0001c0002t0001 a0001c0015t0003	a0001c0001t0003g0266 a0001c0001t0003g0271 a0001c0002t0001g0023 others(2): Show a0001c0001t0003g0266 a0001c0001t0003g0271 a0001c0002t0001g0023 a0001c0002t0001g0075 a0001c0015t0003g0247	5	103	0.0485	16	c.163 others(35): Show c.163-21015_163-21000dupGTGTGTGTGTGTGTGT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735842	C C	CGGGGCGG others(9): Show CGGGGCGGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0084 a0001c0001t0018g0084	1	301	0.0033	16	c.64 others(27): Show c.6410_*6411insGGGGCGGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4254		chr19	TogoVar
ACTR1A_chr10_102474229_102507712	102493001	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02027.hp2 HG02129.hp1 others(14): Show HG01099.hp1 HG02027.hp2 HG02129.hp1 HG02145.hp2 HG02922.hp1 HG03130.hp1 HG03139.hp2 HG03579.hp2 NA18906.hp2 NA18957.hp2 NA18969.hp2 NA18972.hp2 NA18981.hp1 NA19012.hp2 NA19076.hp2 NA19085.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0013 a0001c0001t0003g0051 a0001c0001t0003g0205 others(10): Show a0001c0001t0003g0013 a0001c0001t0003g0051 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0232 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0241 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0004g0252	17	22	0.7727	16	c.49- others(31): Show c.49-2404_49-2389dupTTTTTTTTTTTTTTTT	ACTR1A	ENSG00000138107.13	transcript	ENST00000369905.9	protein_coding	1/10			chr10	TogoVar
ACTR2_chr2_65222831_65276253	65267862	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01516.hp2 HG01517.hp1 HG00733.hp2 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0035 a0001c0001t0006g0258 a0001c0001t0006g0035 a0001c0001t0006g0258	3	21	0.1429	16	c.101 others(33): Show c.1015-689_1015-674dupTTTTTTTTTTTTTTTT	ACTR2	ENSG00000138071.15	transcript	ENST00000260641.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTR3B_chr7_152754752_152860378	152785438	A A	AGGGGGAG others(9): Show AGGGGGAGGGGGGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG01884.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0192 a0001c0002t0001g0194 a0001c0002t0001g0192 a0001c0002t0001g0194	2	307	0.0065	16	c.100 others(33): Show c.100+2208_100+2223dupGAGAGGGGGGAGGGGG	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR3B_chr7_152754752_152860378	152798583	T T	TCCAAAAA others(9): Show TCCAAAAAAATCCTTGC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	308	0.0065	16	c.101 others(33): Show c.101-1944_101-1929dupAAAAAATCCTTGCCCA	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150248659	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03453.hp1 NA21309.hp1 HG02280.hp1 HG03453.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0001c0001t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0263 a0002c0002t0001g0122 a0004c0005t0001g0138 a0001c0001t0001g0263 a0002c0002t0001g0122 a0004c0005t0001g0138	3	210	0.0143	16	c.38 others(31): Show c.38+288_*38+289insTTTTTTTTTTTTTTTT	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	7/7			chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150250202	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0269 a0002c0002t0001g0269	1	221	0.0045	16	c.565 others(33): Show c.565-1164_565-1149dupAAAAAAAAAAAAAAAA	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	6/7			chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150280798	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18965.hp1 NA18979.hp1 HG00609.hp1 NA18965.hp1 NA18979.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0001 a0005c0006t0001 a0002c0002t0001 a0005c0006t0001	a0002c0002t0001g0240 a0002c0002t0001g0242 a0005c0006t0001g0034 a0002c0002t0001g0240 a0002c0002t0001g0242 a0005c0006t0001g0034	3	214	0.0140	16	c.564 others(33): Show c.564+3939_564+3954dupCACACACACACACACA	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	6/7			chr7	TogoVar
ACTR5_chr20_38743460_38777520	38776911	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0034 a0003c0005t0001g0034	1	295	0.0034	16	c.50 others(27): Show c.5095_*5096insTGTGTGTGTGTGTGTG	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding		4392		chr20	TogoVar
ACVR1B_chr12_51946699_52002078	51993765	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	25	0.0400	16	c.139 others(33): Show c.1393-196_1393-181dupAAAAAAAAAAAAAAAA	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1C_chr2_157521767_157633864	157554201	G G	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp1 HG02723.hp2 others(6): Show HG00741.hp2 HG01256.hp1 HG02723.hp2 HG02895.hp2 HG03041.hp2 HG03225.hp2 HG03540.hp2 HG03579.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0007t0012 a0002c0003t0005 a0002c0004t0010 a0002c0004t0013	a0001c0001t0001g0152 a0001c0001t0001g0188 a0001c0001t0003g0058 others(6): Show a0001c0001t0001g0152 a0001c0001t0001g0188 a0001c0001t0003g0058 a0001c0002t0001g0091 a0001c0002t0003g0059 a0001c0007t0012g0085 a0002c0003t0005g0095 a0002c0004t0010g0191 a0002c0004t0013g0018	9	56	0.1607	16	c.544 others(33): Show c.544+1876_544+1891dupTTCTTTCTTTCTTTCT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157554217	A A	AAGAAAGA others(9): Show AAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0011 a0002c0011t0002g0011	1	214	0.0047	16	c.544 others(33): Show c.544+1875_544+1876insCTCTTTCTTTCTTTCT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157554268	A A	AAAGAAAG others(9): Show AAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	176	0.0057	16	c.544 others(33): Show c.544+1824_544+1825insCCTTCCTTCCTTTCTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157588848	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0010 a0002c0003t0002g0010	1	20	0.0500	16	c.74- others(31): Show c.74-1447_74-1432dupATATATATATATATAT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157855308	G G	GTGTGTAT others(9): Show GTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	66	0.0152	16	c.-18 others(37): Show c.-183+20487_-183+20488insTATATATATATACACA	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157862869	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0096 a0001c0002t0003g0096	1	166	0.0060	16	c.-18 others(37): Show c.-183+12926_-183+12927insTTTTTTTTTTTTTTTT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157865821	A A	AAGATAGA others(9): Show AAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02647.hp1 NA20300.hp1 HG01255.hp1 HG02647.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0020 a0001c0001t0001 a0001c0002t0001 a0001c0002t0020	a0001c0001t0001g0041 a0001c0002t0001g0033 a0001c0002t0020g0163 a0001c0001t0001g0041 a0001c0002t0001g0033 a0001c0002t0020g0163	3	70	0.0429	16	c.-18 others(35): Show c.-183+9959_-183+9974dupATCTATCTATCTATCT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR2B_chr3_38448890_38498142	38492731	T T	TACACACA others(9): Show TACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0091 a0001c0001t0113g0091	1	136	0.0074	16	c.94 others(27): Show c.9457_*9472dupCACACACACACACACA	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	9473	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACY3_chr11_67637555_67655730	67638210	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0139 a0002c0002t0001g0139	1	309	0.0032	16	c.44 others(27): Show c.4498_*4513dupATTTATTTATTTATTT	ACY3	ENSG00000132744.8	transcript	ENST00000255082.8	protein_coding		4344		chr11	TogoVar
ACYP2_chr2_53966113_54310300	53995488	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01346.hp2 NA18981.hp1 others(4): Show HG00558.hp1 HG01346.hp2 NA18981.hp1 NA19003.hp1 NA19070.hp2 NA19085.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0014 a0001c0002t0002 a0001c0002t0005 a0001c0002t0014	a0001c0002t0002g0016 a0001c0002t0002g0056 a0001c0002t0002g0058 others(4): Show a0001c0002t0002g0016 a0001c0002t0002g0056 a0001c0002t0002g0058 a0001c0002t0002g0070 a0001c0002t0002g0103 a0001c0002t0005g0065 a0001c0002t0014g0076	7	159	0.0440	16	c.62+ others(33): Show c.62+21694_62+21709dupATTTATTTATTTATTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54035009	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03490.hp1 HG03239.hp2 HG03490.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0014 a0002c0003t0002g0020 a0002c0003t0002g0014 a0002c0003t0002g0020	2	86	0.0233	16	c.63- others(33): Show c.63-15941_63-15926dupAAAAAAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54039819	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	33	0.0303	16	c.63- others(33): Show c.63-11103_63-11088dupGTGTGTGTGTGTGTGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54052046	C C	CAATAAAT others(9): Show CAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01978.hp2 NA18945.hp2 others(3): Show HG00544.hp1 HG01978.hp2 NA18945.hp2 NA18981.hp1 NA19000.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0002 a0001c0002t0002 a0002c0003t0002	a0001c0002t0002g0019 a0001c0002t0002g0036 a0001c0002t0002g0049 others(3): Show a0001c0002t0002g0019 a0001c0002t0002g0036 a0001c0002t0002g0049 a0001c0002t0002g0103 a0002c0003t0002g0029 a0002c0003t0002g0050	6	73	0.0822	16	c.155 others(33): Show c.155+1017_155+1032dupAATAAATAAATAAATA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54078411	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	100	0.0100	16	c.277 others(35): Show c.277+21057_277+21058insATATATATATATATAT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54115905	G G	GGGGGGGG others(9): Show GGGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	253	0.0040	16	c.278 others(35): Show c.278-19548_278-19547insGGGGGGGGGGGGGGGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6			chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201636	C C	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01952.hp1 others(5): Show HG01168.hp1 HG01169.hp2 HG01952.hp1 HG02630.hp2 HG03017.hp1 NA18969.hp1 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0169 a0001c0001t0001g0178 others(5): Show a0001c0001t0001g0140 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0189 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0256 a0001c0001t0001g0262	8	135	0.0593	16	c.404 others(35): Show c.404+62920_404+62935dupTTCTTTCTTTCTTTCT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201636	C C	CTTTGTTT others(9): Show CTTTGTTTCTTTTTCTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18986.hp1 NA19085.hp1 NA18981.hp1 NA18986.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0151 a0001c0002t0002g0016 a0001c0002t0002g0103 a0001c0001t0001g0151 a0001c0002t0002g0016 a0001c0002t0002g0103	3	130	0.0231	16	c.404 others(35): Show c.404+62889_404+62890insTTGTTTCTTTTTCTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201680	T T	TTCTTTCT others(9): Show TTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA20752.hp1 HG03471.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0236 a0001c0001t0001g0227 a0001c0001t0001g0236	2	241	0.0083	16	c.404 others(35): Show c.404+62935_404+62936insTTCTTTCTTTCTCTCT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54202706	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	20	0.0500	16	c.404 others(35): Show c.404+63984_404+63999dupTTTTTTTTTTTTTTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54207173	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01070.hp1 others(21): Show HG00544.hp1 HG00544.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01168.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01928.hp1 HG02155.hp2 HG03195.hp2 HG03490.hp1 HG03669.hp1 HG03669.hp2 NA18973.hp2 NA18990.hp1 NA18992.hp2 NA18995.hp2 NA19080.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0014 a0002c0003t0002 a0002c0003t0005	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0163 others(21): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0163 a0001c0001t0001g0176 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0269 a0001c0001t0004g0112 a0001c0001t0004g0191 a0001c0001t0004g0272 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0055 a0001c0002t0002g0062 a0001c0002t0002g0095 a0001c0002t0003g0077 a0001c0002t0003g0084 a0001c0002t0005g0061 a0001c0002t0005g0102 a0001c0002t0014g0076 a0002c0003t0002g0014 a0002c0003t0005g0101	24	128	0.1875	16	c.404 others(35): Show c.404+68443_404+68458dupGTGTGTGTGTGTGTGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54219881	G G	GTGTGTAT others(9): Show GTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0063 a0001c0002t0002g0063	1	178	0.0056	16	c.404 others(35): Show c.404+81134_404+81135insGTGTATATATATATAT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17184983	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02922.hp1 HG03098.hp1 others(6): Show HG00140.hp2 HG02922.hp1 HG03098.hp1 NA18947.hp2 NA18962.hp2 NA18969.hp2 NA19074.hp1 NA19077.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0008 a0001c0002t0003 others(3): Show a0001c0001t0003 a0001c0001t0008 a0001c0002t0003 a0001c0002t0017 a0001c0002t0046 a0001c0003t0001	a0001c0001t0003g0172 a0001c0001t0003g0285 a0001c0001t0008g0352 others(6): Show a0001c0001t0003g0172 a0001c0001t0003g0285 a0001c0001t0008g0352 a0001c0002t0003g0099 a0001c0002t0003g0113 a0001c0002t0003g0223 a0001c0002t0017g0216 a0001c0002t0046g0366 a0001c0003t0001g0214	9	209	0.0431	16	c.108 others(35): Show c.1082-2238_1082-2223dupATATATATATATATAT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9			chr22	TogoVar
ADAD1_chr4_122374011_122434784	122378285	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00741.hp2 HG01099.hp2 others(1): Show HG00408.hp1 HG00741.hp2 HG01099.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0025 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0139	4	8	0.5000	16	c.-91 others(25): Show c.-913_-912insAAAAAAAAAAAAAAAA	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding		725		chr4	TogoVar
ADAD1_chr4_122374011_122434784	122413851	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02055.hp1 HG02559.hp1 others(5): Show HG01106.hp2 HG02055.hp1 HG02559.hp1 HG02717.hp1 HG02818.hp2 HG03453.hp1 HG03486.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0043 a0001c0001t0001g0202 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0043 a0001c0001t0001g0202 a0001c0001t0001g0284 a0001c0001t0001g0285	8	26	0.3077	16	c.124 others(35): Show c.1249+1053_1249+1068dupATATATATATATATAT	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADAD2_chr16_84186157_84202166	84197184	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01928.hp1 HG02630.hp1 others(11): Show HG00597.hp2 HG01928.hp1 HG02630.hp1 HG02735.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03139.hp1 HG03209.hp2 HG03471.hp2 NA18954.hp1 NA18973.hp1 NA19064.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0007 a0001c0017 a0002c0003 others(1): Show a0001c0007 a0001c0017 a0002c0003 a0003c0001	a0001c0007t0001 a0001c0017t0001 a0002c0003t0002 others(2): Show a0001c0007t0001 a0001c0017t0001 a0002c0003t0002 a0003c0001t0001 a0003c0001t0006	a0001c0007t0001g0007 a0001c0017t0001g0067 a0002c0003t0002g0002 others(2): Show a0001c0007t0001g0007 a0001c0017t0001g0067 a0002c0003t0002g0002 a0003c0001t0001g0004 a0003c0001t0006g0077	14	195	0.0718	16	c.21 others(25): Show c.210_*211insTGTGTGTGTGTGTGTG	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding		19		chr16	TogoVar

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