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
ACTN2_chr1_236681499_236769631	236721015	G G	GGTTTTTT others(17): Show GGTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03688.hp2 NA18943.hp1 others(3): Show HG02129.hp2 HG03688.hp2 NA18943.hp1 NA18960.hp2 NA18998.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0007 a0001c0001t0003g0172 a0001c0001t0003g0173 others(3): Show a0001c0001t0001g0007 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0273 a0001c0002t0002g0255 a0001c0002t0002g0318	6	137	0.0438	24	c.448 others(39): Show c.448+824_448+825insGTTTTTTTTTTTTTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	4/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02615.hp1 others(7): Show HG02055.hp1 HG02451.hp1 HG02615.hp1 HG02723.hp1 HG03831.hp2 NA18960.hp1 NA18983.hp2 NA19057.hp2 NA19068.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0002t0002 a0001c0003t0021	a0001c0001t0001g0115 a0001c0001t0001g0258 a0001c0001t0001g0290 others(7): Show a0001c0001t0001g0115 a0001c0001t0001g0258 a0001c0001t0001g0290 a0001c0001t0001g0296 a0001c0001t0001g0321 a0001c0001t0001g0338 a0001c0001t0003g0236 a0001c0001t0018g0307 a0001c0002t0002g0272 a0001c0003t0021g0126	10	204	0.0490	24	c.876 others(37): Show c.876+83_876+84insTATATATATATATATATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236758289	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02451.hp2 HG02717.hp1 others(9): Show HG01168.hp2 HG02451.hp2 HG02717.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0015 a0001c0004 a0001c0015	a0001c0004t0005 a0001c0015t0016 a0001c0004t0005 a0001c0015t0016	a0001c0004t0005g0058 a0001c0004t0005g0061 a0001c0004t0005g0062 others(9): Show a0001c0004t0005g0058 a0001c0004t0005g0061 a0001c0004t0005g0062 a0001c0004t0005g0064 a0001c0004t0005g0065 a0001c0004t0005g0078 a0001c0004t0005g0121 a0001c0004t0005g0161 a0001c0004t0005g0175 a0001c0004t0005g0196 a0001c0004t0005g0197 a0001c0015t0016g0114	12	199	0.0603	24	c.230 others(41): Show c.2301+669_2301+670insTTTTTTTTTTTTTTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTR2_chr2_65222831_65276253	65267862	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0259 a0001c0001t0006g0259	1	19	0.0526	24	c.101 others(41): Show c.1015-697_1015-674dupTTTTTTTTTTTTTTTTTTTTTTTT	ACTR2	ENSG00000138071.15	transcript	ENST00000260641.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTR3C_chr7_150242212_150328545	150259291	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp2 HG02818.hp2 others(4): Show HG02572.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02970.hp1 HG03225.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0001c0001t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0201 a0001c0001t0001g0214 a0001c0001t0005g0186 others(4): Show a0001c0001t0001g0201 a0001c0001t0001g0214 a0001c0001t0005g0186 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0117	7	280	0.0250	24	c.565 others(43): Show c.565-10238_565-10237insCTTTTTCTTTCTTTCTTTCTTTCT	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	6/7			chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150269828	C C	CTAATGTT others(17): Show CTAATGTTTCTCCCTAGTGCGCGGG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	292	0.0034	24	c.564 others(43): Show c.564+14901_564+14924dupCCCGCGCACTAGGGAGAAACATTA	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	6/7			chr7	TogoVar
ACVR1B_chr12_51946699_52002078	51993765	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	25	0.0400	24	c.139 others(41): Show c.1393-204_1393-181dupAAAAAAAAAAAAAAAAAAAAAAAA	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(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG01256.hp2 others(7): Show HG00280.hp2 HG00621.hp1 HG01256.hp2 HG01943.hp2 HG01975.hp1 HG02273.hp1 HG02572.hp1 HG02647.hp2 NA18906.hp1 NA18988.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0002c0003t0002 a0002c0003t0006	a0001c0001t0001g0206 a0001c0001t0004g0185 a0001c0002t0001g0056 others(7): Show a0001c0001t0001g0206 a0001c0001t0004g0185 a0001c0002t0001g0056 a0002c0003t0002g0010 a0002c0003t0002g0039 a0002c0003t0002g0040 a0002c0003t0002g0044 a0002c0003t0002g0120 a0002c0003t0006g0077 a0002c0003t0006g0089	10	57	0.1754	24	c.544 others(41): Show c.544+1868_544+1891dupTTCTTTCTTTCTTTCTTTCTTTCT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157554201	G G	GAGAGAGA others(17): Show GAGAGAGAGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0106 a0002c0008t0002g0106	1	48	0.0208	24	c.544 others(41): Show c.544+1891_544+1892insTTCTTTCTTTCTCTCTCTCTCTCT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157554268	A A	AAAGAAAG others(17): Show AAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0010 a0002c0013t0010	a0002c0013t0010g0052 a0002c0013t0010g0052	1	176	0.0057	24	c.544 others(41): Show c.544+1824_544+1825insCCTTTCTTTCTTTCTTTCTTTCTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157554268	A A	AAAGAAAG others(17): Show AAAGAAAGAAAGAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02818.hp2 HG02280.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0028 a0001c0002t0001 a0001c0002t0028	a0001c0002t0001g0032 a0001c0002t0028g0048 a0001c0002t0001g0032 a0001c0002t0028g0048	2	177	0.0113	24	c.544 others(41): Show c.544+1824_544+1825insCCTTCCTTTCTTTCTTTCTTTCTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157554268	A A	AAAGAAAG others(17): Show AAAGAAAGAAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0057 a0002c0003t0002g0057	1	176	0.0057	24	c.544 others(41): Show c.544+1824_544+1825insCCTTCCTTCCTTTCTTTCTTTCTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157554287	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAAAGGAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	202	0.0050	24	c.544 others(41): Show c.544+1805_544+1806insTTTCCTTTCTTTCTTTCTTTCTTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157576835	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0191 a0002c0004t0010g0191	1	173	0.0058	24	c.304 others(43): Show c.304+10328_304+10351dupAAAAAAAAAAAAAAAAAAAAAAAA	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	2/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157588848	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG04228.hp2 HG01517.hp2 HG04228.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0003 a0003c0006t0005 a0001c0002t0003 a0003c0006t0005	a0001c0002t0003g0059 a0003c0006t0005g0168 a0001c0002t0003g0059 a0003c0006t0005g0168	2	21	0.0952	24	c.74- others(39): Show c.74-1455_74-1432dupATATATATATATATATATATATAT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147844409	T T	TGCCGCCG others(17): Show TGCCGCCGCCGCCGCCGCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0187 a0001c0001t0006g0187	1	140	0.0071	24	c.-74 others(33): Show c.-744_-743insGCCGCCGCCGCCGCCGCCGCCGCC	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		619		chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147844591	T T	TGCACCGC others(17): Show TGCACCGCCGCCGCCGCTGCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	336	0.0030	24	c.-56 others(33): Show c.-562_-561insGCACCGCCGCCGCCGCTGCCGCCC	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		437		chr2	TogoVar
ACYP2_chr2_53966113_54310300	54035009	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19003.hp1 NA18995.hp2 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0070 a0001c0002t0002g0055 a0001c0002t0002g0070	2	86	0.0233	24	c.63- others(41): Show c.63-15926_63-15925insAAAAAAAAAAAAAAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54072512	T T	TCTTTTTT others(17): Show TCTTTTTTTCTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02922.hp2 HG03471.hp1 HG02572.hp1 HG02922.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0016 a0001c0002t0002 a0001c0002t0016	a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0016g0054 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0016g0054	3	270	0.0111	24	c.277 others(43): Show c.277+15152_277+15153insCTTTTTTTCTTCTTTCTTTCTTTC	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6			chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201622	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTGTTTC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	237	0.0042	24	c.404 others(43): Show c.404+62875_404+62876insTTCTTTCTTTCTTTCTTTGTTTCT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201636	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	128	0.0078	24	c.404 others(43): Show c.404+62912_404+62935dupTTCTTTCTTTCTTTCTTTCTTTCT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201636	C C	CTTTCTTT others(17): Show CTTTCTTTCTTTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0048 a0002c0003t0002g0048	1	128	0.0078	24	c.404 others(43): Show c.404+62889_404+62890insTTCTTTCTTTCTCTTTCTTTCTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201636	C C	CTTTCTTT others(17): Show CTTTCTTTCTTTGTTTCTTTTTCTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	128	0.0078	24	c.404 others(43): Show c.404+62889_404+62890insTTCTTTCTTTGTTTCTTTTTCTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201636	C C	CTTTCTTT others(17): Show CTTTCTTTGTTTCTTTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	128	0.0078	24	c.404 others(43): Show c.404+62889_404+62890insTTCTTTGTTTCTTTTTCTTTCTTT	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(17): Show CTTTGTTTCTTTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0093 a0001c0002t0009g0093	1	128	0.0078	24	c.404 others(43): Show c.404+62889_404+62890insTTGTTTCTTTTTCTTTCTTTCTTT	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(17): Show TTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	240	0.0042	24	c.404 others(43): Show c.404+62935_404+62936insTTCTTTCTTTCTTTCTTTCTCTCT	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(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01257.hp2 HG00597.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0152 a0001c0002t0002g0100 a0001c0001t0004g0152 a0001c0002t0002g0100	2	106	0.0189	24	c.404 others(43): Show c.404+68435_404+68458dupGTGTGTGTGTGTGTGTGTGTGTGT	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(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp1 HG01261.hp1 others(1): Show HG00642.hp2 HG01074.hp1 HG01261.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0003 a0001c0004t0002 a0001c0005t0006 a0001c0002t0003 a0001c0004t0002 a0001c0005t0006	a0001c0002t0003g0039 a0001c0004t0002g0198 a0001c0004t0002g0199 others(1): Show a0001c0002t0003g0039 a0001c0004t0002g0198 a0001c0004t0002g0199 a0001c0005t0006g0344	4	204	0.0196	24	c.108 others(43): Show c.1082-2246_1082-2223dupATATATATATATATATATATATAT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188863	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01993.hp1 HG04228.hp2 others(2): Show HG01346.hp2 HG01993.hp1 HG04228.hp2 NA18954.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0004t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0006 a0001c0006t0002	a0001c0001t0001g0063 a0001c0001t0004g0351 a0001c0004t0006g0370 others(2): Show a0001c0001t0001g0063 a0001c0001t0004g0351 a0001c0004t0006g0370 a0001c0006t0002g0073 a0001c0006t0002g0138	5	194	0.0258	24	c.973 others(39): Show c.973-417_973-416insTTTTTTTTTTTTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	299	0.0033	24	c.973 others(39): Show c.973-422_973-421insATATATTTTTTTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADAD1_chr4_122374011_122434784	122413851	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02965.hp1 NA20300.hp1 HG02897.hp1 HG02965.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0283	3	21	0.1429	24	c.124 others(43): Show c.1249+1045_1249+1068dupATATATATATATATATATATATAT	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(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG02622.hp1 HG02647.hp1 others(8): Show HG01358.hp2 HG02622.hp1 HG02647.hp1 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG03453.hp1 NA18963.hp1 NA18981.hp1 NA19077.hp1 NA20905.hp1	a0003 a0005 a0003 a0005	a0003c0001 a0005c0010 a0003c0001 a0005c0010	a0003c0001t0001 a0005c0010t0006 a0003c0001t0001 a0005c0010t0006	a0003c0001t0001g0003 a0003c0001t0001g0004 a0003c0001t0001g0069 others(1): Show a0003c0001t0001g0003 a0003c0001t0001g0004 a0003c0001t0001g0069 a0005c0010t0006g0013	11	192	0.0573	24	c.21 others(33): Show c.210_*211insTGTGTGTGTGTGTGTGTGTGTGTG	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding		19		chr16	TogoVar
ADAL_chr15_43325672_43359569	43334633	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00639.hp1 others(34): Show HG00438.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp2 HG01069.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01256.hp1 HG01256.hp2 HG01358.hp1 HG02040.hp1 HG02056.hp1 HG02135.hp2 HG02148.hp2 HG02293.hp2 HG02723.hp2 HG02735.hp1 HG03017.hp2 HG03139.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp2 NA18950.hp2 NA18971.hp1 NA18973.hp1 NA18981.hp2 NA18982.hp1 NA18993.hp1 NA19079.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0018 a0001c0002t0021	a0001c0001t0002g0040 a0001c0001t0002g0142 a0001c0001t0004g0084 others(18): Show a0001c0001t0002g0040 a0001c0001t0002g0142 a0001c0001t0004g0084 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0002t0001g0002 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0096 a0001c0002t0003g0002 a0001c0002t0003g0056 a0001c0002t0003g0087 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0002t0018g0033 a0001c0002t0021g0090	37	51	0.7255	24	c.-16 others(41): Show c.-163-304_-163-281dupATATATATATATATATATATATAT	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAM10_chr15_58583809_58754707	58647248	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	8	0.1250	24	c.586 others(41): Show c.586-1068_586-1045dupAAAAAAAAAAAAAAAAAAAAAAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688766	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0294 a0001c0001t0060g0294	1	271	0.0037	24	c.207 others(41): Show c.207-6453_207-6452insTATATATATATATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(17): Show ATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0246 a0001c0001t0008g0246	1	124	0.0081	24	c.207 others(41): Show c.207-6473_207-6472insGATATATATATATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(17): Show ATATATATATATATATATATATCTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG04184.hp1 NA18967.hp1 others(1): Show HG02970.hp2 HG04184.hp1 NA18967.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 a0001c0001t0045	a0001c0001t0004g0241 a0001c0001t0005g0224 a0001c0001t0018g0258 others(1): Show a0001c0001t0004g0241 a0001c0001t0005g0224 a0001c0001t0018g0258 a0001c0001t0045g0088	4	127	0.0315	24	c.207 others(41): Show c.207-6473_207-6472insGAGATATATATATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(17): Show ATATATATATATATATATATCTCTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02004.hp1 HG02148.hp1 others(1): Show HG01257.hp1 HG02004.hp1 HG02148.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0017 a0001c0001t0004 a0001c0001t0008 a0001c0001t0017	a0001c0001t0004g0222 a0001c0001t0004g0253 a0001c0001t0008g0209 others(1): Show a0001c0001t0004g0222 a0001c0001t0004g0253 a0001c0001t0008g0209 a0001c0001t0017g0206	4	127	0.0315	24	c.207 others(41): Show c.207-6473_207-6472insGAGAGATATATATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(17): Show ATATATATATATATATATCTCTCTC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0283 a0001c0001t0053g0283	1	124	0.0081	24	c.207 others(41): Show c.207-6473_207-6472insGAGAGAGATATATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(17): Show ATATATATATATATCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0287 a0001c0001t0026g0287	1	124	0.0081	24	c.207 others(41): Show c.207-6473_207-6472insGAGAGAGAGAGATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM12_chr10_126007391_126393477	126051532	G G	GCCAGCCA others(17): Show GCCAGCCAGCCAGCCAGCCAGCCAC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0105 a0001c0008t0001g0105	1	214	0.0047	24	c.161 others(43): Show c.1610-1864_1610-1863insGTGGCTGGCTGGCTGGCTGGCTGG	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	14/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126082363	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0203 a0001c0002t0002g0203	1	42	0.0238	24	c.114 others(45): Show c.1146-10733_1146-10710dupAAAAAAAAAAAAAAAAAAAAAAAA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086672	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0048 a0002c0048	a0002c0048t0022 a0002c0048t0022	a0002c0048t0022g0051 a0002c0048t0022g0051	1	243	0.0041	24	c.114 others(43): Show c.1145+7312_1145+7313insATATATATATATATATATATATAT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0029 a0002c0001t0029	a0002c0001t0029g0003 a0002c0001t0029g0003	1	65	0.0154	24	c.114 others(43): Show c.1145+7304_1145+7305insATATATATATATATATATTTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA21309.hp2 HG02809.hp2 NA21309.hp2	a0002 a0002	a0002c0001 a0002c0015 a0002c0001 a0002c0015	a0002c0001t0042 a0002c0015t0006 a0002c0001t0042 a0002c0015t0006	a0002c0001t0042g0032 a0002c0015t0006g0119 a0002c0001t0042g0032 a0002c0015t0006g0119	2	66	0.0303	24	c.114 others(43): Show c.1145+7304_1145+7305insATATATATATATATATATATTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9520964	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	94	0.0106	24	c.957 others(39): Show c.957+238_957+239insTTTTTTTTTTTTTTTTTTTTTTTT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	8/18			chr2	TogoVar
ADAM19_chr5_157472304_157580775	157497570	T T	TATACACA others(17): Show TATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0204 a0002c0002t0032g0204	1	181	0.0055	24	c.139 others(41): Show c.1399-482_1399-481insGTGTGTGTGTGTGTGTGTGTGTAT	ADAM19	ENSG00000135074.16	transcript	ENST00000257527.9	protein_coding	13/22			chr5	TogoVar
ADAM20_chr14_70517358_70540004	70536465	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	36	0.0278	24	c.-18 others(35): Show c.-1846_-1845insTTTTTTTTTTTTTTTTTTTTTTTT	ADAM20	ENSG00000134007.5	transcript	ENST00000256389.5	protein_coding		1462		chr14	TogoVar
ADAM22_chr7_87929251_88207889	87982068	T T	TATATATA others(17): Show TATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18992.hp1 NA18994.hp2 NA18990.hp1 NA18992.hp1 NA18994.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0005c0005 a0004c0004 a0005c0005	a0004c0004t0002 a0005c0005t0004 a0004c0004t0002 a0005c0005t0004	a0004c0004t0002g0067 a0004c0004t0002g0070 a0005c0005t0004g0103 a0004c0004t0002g0067 a0004c0004t0002g0070 a0005c0005t0004g0103	3	94	0.0319	24	c.323 others(41): Show c.323+3657_323+3658insTATATATATATATACACACACACA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	77	0.0130	24	c.324 others(43): Show c.324-36161_324-36160insAAAAAAAAAAAAAATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar

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