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
ACTG2_chr2_73888008_73924865	73904775	GTGTATAT others(13): Show GTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG01169.hp1 others(2): Show HG01109.hp2 HG01167.hp2 HG01169.hp1 HG02258.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0029 a0001c0001t0005g0030 a0001c0001t0005g0031 others(2): Show a0001c0001t0001g0029 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0372 a0001c0001t0005g0384	5	387	0.0129	-20	c.255 others(37): Show c.255+2289_255+2308delGTATATATATATATATATAT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904777	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00733.hp1 others(19): Show HG00280.hp2 HG00639.hp2 HG00733.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01496.hp1 HG02155.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03704.hp2 NA19000.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0313 a0001c0002t0001g0007 a0001c0002t0001g0020 others(17): Show a0001c0001t0001g0313 a0001c0002t0001g0007 a0001c0002t0001g0020 a0001c0002t0001g0095 a0001c0002t0001g0099 a0001c0002t0001g0129 a0001c0002t0001g0179 a0001c0002t0001g0182 a0001c0002t0001g0225 a0001c0002t0001g0381 a0001c0002t0001g0393 a0001c0002t0003g0024 a0001c0002t0003g0087 a0001c0002t0003g0108 a0001c0002t0003g0128 a0001c0002t0003g0175 a0001c0002t0003g0297 a0001c0002t0003g0352 a0001c0002t0003g0359 a0001c0002t0003g0373	22	280	0.0786	-20	c.255 others(37): Show c.255+2308_255+2327delTATATATATATATATATATA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73923641	CAAGAAAA others(13): Show CAAGAAAAGAAAAGAAAAGAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18968.hp2 NA18994.hp1 NA18939.hp2 NA18968.hp2 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0290 a0001c0002t0002g0312 a0001c0002t0002g0314 a0001c0002t0002g0290 a0001c0002t0002g0312 a0001c0002t0002g0314	3	99	0.0303	-20	c.40 others(31): Show c.4067_*4086delAAGAAAAGAAAAGAAAAGAA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding		3777		chr2	TogoVar
ACTL6B_chr7_100638097_100661448	100652999	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	38	0.0263	-20	c.369 others(37): Show c.369+2000_369+2019delTTTTTTTTTTTTTTTTTTTT	ACTL6B	ENSG00000077080.10	transcript	ENST00000160382.10	protein_coding	4/13			chr7	TogoVar
ACTL7A_chr9_108857266_108868756	108858823	GACACACA others(13): Show GACACACACACATACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	316	0.0032	-20	c.-34 others(31): Show c.-3499_-3480delACACACACACATACACACAC	ACTL7A	ENSG00000187003.7	transcript	ENST00000333999.5	protein_coding		3442		chr9	TogoVar
ACTL7B_chr9_108849588_108860986	108858823	GACACACA others(13): Show GACACACACACATACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	307	0.0033	-20	c.-29 others(31): Show c.-2913_-2894delGTGTGTGTATGTGTGTGTGT	ACTL7B	ENSG00000148156.8	transcript	ENST00000374667.5	protein_coding		2838		chr9	TogoVar
ACTL9_chr19_8692400_8703795	8695238	AAAACAAA others(13): Show AAAACAAACAAACAAACAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 NA18522.hp1 NA19240.hp1 HG02922.hp1 NA18522.hp1 NA19240.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0002 a0009c0009t0002 a0001c0001t0002 a0009c0009t0002	a0001c0001t0002g0000 a0009c0009t0002g0000 a0001c0001t0002g0000 a0009c0009t0002g0000	3	76	0.0395	-20	c.21 others(31): Show c.2193_*2212delGTTTGTTTGTTTGTTTGTTT	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding		2161		chr19	TogoVar
ACTN1_chr14_68869128_68984302	68899054	CCACACAC others(13): Show CCACACACACCTCACACACCA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03195.hp2 HG03579.hp1 others(1): Show HG02572.hp1 HG03195.hp2 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0185 a0001c0001t0001g0231 a0001c0001t0001g0242 others(1): Show a0001c0001t0001g0185 a0001c0001t0001g0231 a0001c0001t0001g0242 a0001c0001t0002g0025	4	282	0.0142	-20	c.762 others(37): Show c.762+3403_762+3422delTGGTGTGTGAGGTGTGTGTG	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	8/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236689300	GATATATA others(13): Show GATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02145.hp1 HG02257.hp1 others(20): Show HG01981.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02559.hp1 HG02615.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0003c0026	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(8): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0002t0002 a0001c0003t0005 a0001c0004t0005 a0001c0007t0004 a0003c0026t0005	a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0075 others(20): Show a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0079 a0001c0001t0005g0081 a0001c0001t0009g0073 a0001c0001t0011g0074 a0001c0001t0014g0083 a0001c0001t0014g0085 a0001c0001t0014g0087 a0001c0001t0018g0089 a0001c0002t0002g0072 a0001c0002t0002g0080 a0001c0002t0002g0088 a0001c0002t0002g0090 a0001c0003t0005g0068 a0001c0004t0005g0078 a0001c0004t0005g0082 a0001c0007t0004g0070 a0001c0007t0004g0084 a0001c0007t0004g0086 a0003c0026t0005g0077	23	171	0.1345	-20	c.126 others(37): Show c.126+2521_126+2540delTATATATATATATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236689320	TATATATA others(13): Show TATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG01123.hp2 others(26): Show HG00639.hp2 HG01081.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01433.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02148.hp1 HG02273.hp1 HG02647.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03704.hp1 HG04204.hp1 NA18747.hp2 NA18960.hp1 NA18964.hp2 NA18969.hp1 NA18995.hp1 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0011 a0001c0015 a0001c0018 a0005c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0003t0001 a0001c0003t0006 a0001c0003t0020 a0001c0003t0021 a0001c0006t0008 a0001c0007t0004 a0001c0011t0004 a0001c0011t0005 a0001c0015t0016 a0001c0018t0006 a0005c0017t0024	a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0004g0103 others(25): Show a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0004g0103 a0001c0001t0004g0118 a0001c0001t0004g0120 a0001c0001t0006g0134 a0001c0001t0009g0119 a0001c0001t0015g0117 a0001c0003t0001g0001 a0001c0003t0006g0125 a0001c0003t0006g0127 a0001c0003t0006g0130 a0001c0003t0006g0131 a0001c0003t0006g0132 a0001c0003t0006g0133 a0001c0003t0006g0135 a0001c0003t0020g0123 a0001c0003t0021g0126 a0001c0006t0008g0128 a0001c0006t0008g0129 a0001c0006t0008g0343 a0001c0007t0004g0113 a0001c0011t0004g0102 a0001c0011t0005g0101 a0001c0015t0016g0114 a0001c0015t0016g0116 a0001c0018t0006g0124 a0005c0017t0024g0100	29	342	0.0848	-20	c.126 others(37): Show c.126+2523_126+2542delTATATATATATATATATACA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN4_chr19_38642649_38736589	38673558	TATATATA others(13): Show TATATATATTTATATATATTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03516.hp2 HG00642.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0032 a0001c0001t0017 a0001c0001t0032	a0001c0001t0017g0282 a0001c0001t0032g0273 a0001c0001t0017g0282 a0001c0001t0032g0273	2	310	0.0065	-20	c.162 others(39): Show c.162+25681_162+25700delTATATATATTCATATATATT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735670	CGCGGGGC others(13): Show CGCGGGGCGGGGGTTCTGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG02015.hp2 HG04115.hp2 others(5): Show HG01257.hp1 HG02015.hp2 HG04115.hp2 NA18954.hp1 NA18970.hp2 NA19005.hp2 NA19043.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0001c0001t0034 a0001c0001t0035 a0001c0002t0030	a0001c0001t0001g0170 a0001c0001t0002g0001 a0001c0001t0002g0113 others(5): Show a0001c0001t0001g0170 a0001c0001t0002g0001 a0001c0001t0002g0113 a0001c0001t0002g0158 a0001c0001t0024g0085 a0001c0001t0034g0001 a0001c0001t0035g0109 a0001c0002t0030g0046	8	275	0.0291	-20	c.62 others(31): Show c.6239_*6258delGCGGGGCGGGGGTTCTGGGG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4082		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735772	CGGGGCGG others(13): Show CGGGGCGGGGCGGGGGTTCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01943.hp2 HG01257.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0226 a0001c0002t0001g0063 a0001c0002t0001g0226	2	297	0.0067	-20	c.63 others(31): Show c.6341_*6360delGGGGCGGGGCGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4184		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735797	CGGGGCGG others(13): Show CGGGGCGGGGCGGGGGTTCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02071.hp2 HG02074.hp2 others(8): Show HG00558.hp1 HG02071.hp2 HG02074.hp2 HG02135.hp1 NA18612.hp1 NA18940.hp2 NA18953.hp2 NA18955.hp1 NA18975.hp2 NA18993.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0110 others(8): Show a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0012g0131	11	299	0.0368	-20	c.63 others(31): Show c.6366_*6385delGGGGCGGGGCGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4209		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735848	GGGGCGGG others(13): Show GGGGCGGGGCGGTGGTTCTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0003 a0001c0005t0007g0003	1	295	0.0034	-20	c.64 others(31): Show c.6417_*6436delGGGCGGGGCGGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4260		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735868	CGGGCGGG others(13): Show CGGGCGGGGCGGGGCGGGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	155	0.0065	-20	c.64 others(31): Show c.6437_*6456delGGGCGGGGCGGGGCGGGGCG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4280		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38736514	CCAAGCCC others(13): Show CCAAGCCCCAGGGCCGGTTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0254 a0001c0001t0003g0254	1	312	0.0032	-20	c.70 others(31): Show c.7083_*7102delCAAGCCCCAGGGCCGGTTGA	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4926		chr19	TogoVar
ACTR1B_chr2_97650939_97669044	97665725	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0004 a0002c0003t0003g0004	1	376	0.0027	-20	c.-18 others(31): Show c.-1855_-1836delTATATATAGAGAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1682		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665727	CTCTCTCT others(13): Show CTCTCTCTCTCTATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 NA19043.hp1 HG02723.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0005 a0002c0003t0005 a0001c0002t0005 a0002c0003t0005	a0001c0002t0005g0055 a0002c0003t0005g0007 a0001c0002t0005g0055 a0002c0003t0005g0007	2	364	0.0055	-20	c.-18 others(31): Show c.-1857_-1838delTATATATATAGAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1684		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665729	CTCTCTCT others(13): Show CTCTCTCTCTATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03486.hp2 HG03209.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0005 a0002c0003t0003 a0001c0002t0005 a0002c0003t0003	a0001c0002t0005g0053 a0002c0003t0003g0010 a0001c0002t0005g0053 a0002c0003t0003g0010	2	377	0.0053	-20	c.-18 others(31): Show c.-1859_-1840delTATATATATATAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1686		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665731	CTCTCTCT others(13): Show CTCTCTCTATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03130.hp1 others(3): Show HG02895.hp2 HG02897.hp2 HG03130.hp1 HG03453.hp2 HG03579.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0006 a0001c0002t0005g0006	6	368	0.0163	-20	c.-18 others(31): Show c.-1861_-1842delTATATATATATATAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1688		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665733	CTCTCTAT others(13): Show CTCTCTATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0006 a0001c0002t0005g0006	1	361	0.0028	-20	c.-18 others(31): Show c.-1863_-1844delTATATATATATATATAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1690		chr2	TogoVar
ACTR6_chr12_100195815_100229424	100198756	TACACACA others(13): Show TACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02015.hp1 HG02451.hp2 others(8): Show HG01884.hp2 HG02015.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02735.hp1 HG02922.hp1 HG03130.hp1 HG03834.hp2 HG03942.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0135 a0001c0001t0001g0136 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141	11	86	0.1279	-20	c.-20 others(31): Show c.-2095_-2076delACACACACACACACACACAC	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		2058		chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51993765	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp1 HG02486.hp1 HG02055.hp2 HG02280.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169	3	27	0.1111	-20	c.139 others(37): Show c.1393-200_1393-181delAAAAAAAAAAAAAAAAAAAA	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1_chr2_157731446_157881330	157795377	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0143 a0001c0003t0019g0143	1	18	0.0556	-20	c.67+ others(35): Show c.67+4030_67+4049delGTGTGTGTGTGTGTGTGTGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	3/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157826697	GAAGGAAA others(13): Show GAAGGAAAGGAAAGGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(29): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00438.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02976.hp2 HG03654.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 NA18946.hp2 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA19043.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0004 a0001c0006t0006	a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0054 others(29): Show a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0088 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0002g0039 a0001c0001t0002g0052 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0097 a0001c0001t0002g0117 a0001c0001t0002g0153 a0001c0001t0012g0011 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0002t0001g0028 a0001c0002t0001g0033 a0001c0002t0001g0037 a0001c0002t0001g0089 a0001c0002t0001g0125 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0147 a0001c0005t0001g0073 a0001c0005t0001g0123 a0001c0005t0004g0174 a0001c0006t0006g0160	32	57	0.5614	-20	c.-18 others(39): Show c.-182-8158_-182-8139delTCCTTTCCTTTCCTTTCCTT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR2B_chr3_38448890_38498142	38492731	TACACACA others(13): Show TACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01099.hp2 others(9): Show HG00639.hp1 HG01074.hp1 HG01099.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02723.hp1 HG02809.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0024 a0001c0001t0054 others(3): Show a0001c0001t0016 a0001c0001t0024 a0001c0001t0054 a0001c0001t0063 a0001c0001t0092 a0001c0001t0140	a0001c0001t0016g0020 a0001c0001t0016g0021 a0001c0001t0016g0132 others(7): Show a0001c0001t0016g0020 a0001c0001t0016g0021 a0001c0001t0016g0132 a0001c0001t0016g0135 a0001c0001t0024g0005 a0001c0001t0054g0011 a0001c0001t0054g0125 a0001c0001t0063g0142 a0001c0001t0092g0005 a0001c0001t0140g0011	12	147	0.0816	-20	c.94 others(31): Show c.9453_*9472delCACACACACACACACACACA	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	9453	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38492785	CACACACA others(13): Show CACACACACACACACACACAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG01106.hp1 HG01175.hp1 others(6): Show HG00597.hp2 HG01106.hp1 HG01175.hp1 HG01256.hp2 NA18956.hp1 NA18990.hp1 NA19070.hp2 NA19075.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0022 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0022 a0001c0001t0168	a0001c0001t0002g0006 a0001c0001t0002g0068 a0001c0001t0008g0010 others(3): Show a0001c0001t0002g0006 a0001c0001t0002g0068 a0001c0001t0008g0010 a0001c0001t0008g0030 a0001c0001t0022g0097 a0001c0001t0168g0010	9	408	0.0221	-20	c.94 others(31): Show c.9458_*9477delACACACACACACACATACAC	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	9458	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACVRL1_chr12_51902504_51928361	51919363	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03516.hp2 HG02895.hp2 HG03516.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0022 a0001c0005t0008 a0001c0005t0022	a0001c0005t0008g0110 a0001c0005t0022g0111 a0001c0005t0008g0110 a0001c0005t0022g0111	2	152	0.0132	-20	c.137 others(37): Show c.1377+270_1377+289delGTGTGTGTGTGTGTGTGTGT	ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACY1_chr3_51978535_51994197	51981894	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01123.hp1 HG03492.hp1 others(11): Show HG01106.hp1 HG01123.hp1 HG03492.hp1 HG03688.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp2 NA18978.hp1 NA19056.hp1 NA19063.hp2 NA19077.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0010 a0003c0003 others(1): Show a0001c0001 a0001c0010 a0003c0003 a0008c0004	a0001c0001t0001 a0001c0010t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0010t0001 a0003c0003t0001 a0008c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0010t0001g0002 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0010t0001g0002 a0003c0003t0001g0002 a0003c0003t0001g0036 a0008c0004t0001g0002	14	57	0.2456	-20	c.-17 others(31): Show c.-1713_-1694delAAAAAAAAAAAAAAAAAAAA	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding		1640		chr3	TogoVar
ACYP1_chr14_75048243_75069024	75067182	TACACACA others(13): Show TACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	18	0.0556	-20	c.-32 others(31): Show c.-3257_-3238delGTGTGTGTGTGTGTGTGTGT	ACYP1	ENSG00000119640.9	transcript	ENST00000238618.8	protein_coding		3159		chr14	TogoVar
ACYP2_chr2_53966113_54310300	53973853	ATATGTGT others(13): Show ATATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	263	0.0038	-20	c.62+ others(31): Show c.62+45_62+64delATGTGTGTGTGTGTGTGTGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54013255	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	31	0.0323	-20	c.63- others(37): Show c.63-37661_63-37642delGTGTGTGTGTGTGTGTGTGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54095490	CGGGGCGG others(13): Show CGGGGCGGCTGGCTGGGCGGG	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0101 a0002c0003t0005g0101	1	270	0.0037	-20	c.277 others(39): Show c.277+38134_277+38153delGCGGCTGGCTGGGCGGGGGG	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54102638	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	6	0.1667	-20	c.278 others(39): Show c.278-32798_278-32779delAAAAAAAAAAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54197935	ATGTATTA others(13): Show ATGTATTATATTGTATTGTAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02809.hp1 HG02886.hp1 others(5): Show HG01109.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG03098.hp2 HG03486.hp2 NA18906.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0002t0003	a0001c0001t0001g0105 a0001c0001t0001g0154 a0001c0001t0001g0171 others(5): Show a0001c0001t0001g0105 a0001c0001t0001g0154 a0001c0001t0001g0171 a0001c0001t0001g0270 a0001c0001t0004g0139 a0001c0001t0011g0161 a0001c0002t0003g0088 a0001c0002t0003g0098	8	242	0.0331	-20	c.404 others(39): Show c.404+59194_404+59213delATATTGTATTGTATTGTATT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54197942	ATATTGTA others(13): Show ATATTGTATTGTATTGTATTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01071.hp1 others(31): Show HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01928.hp1 HG01952.hp1 HG02132.hp1 HG02155.hp2 HG02559.hp2 HG02630.hp1 HG02896.hp2 HG02976.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03669.hp2 HG04115.hp2 HG06807.hp2 NA18969.hp1 NA19043.hp2 NA19065.hp2 NA19070.hp1 NA19077.hp1 NA19080.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0002t0013	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0140 others(31): Show a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0195 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0266 a0001c0001t0004g0231 a0001c0001t0004g0272 a0001c0002t0002g0007 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0003g0089 a0001c0002t0003g0090 a0001c0002t0003g0094 a0001c0002t0003g0097 a0001c0002t0005g0061 a0001c0002t0009g0093 a0001c0002t0013g0039	34	131	0.2595	-20	c.404 others(39): Show c.404+59269_404+59288delGTATTGTATTGTATTGTATT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54202706	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp1 HG03195.hp2 HG02615.hp2 HG03130.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0002t0002g0060 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0002t0002g0060	3	22	0.1364	-20	c.404 others(39): Show c.404+63980_404+63999delTTTTTTTTTTTTTTTTTTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17222472	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01069.hp2 HG01192.hp2 others(3): Show HG00323.hp2 HG01069.hp2 HG01192.hp2 HG01943.hp2 HG02717.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0044 a0001c0002t0003 others(3): Show a0001c0001t0003 a0001c0001t0044 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010	a0001c0001t0003g0033 a0001c0001t0044g0326 a0001c0002t0003g0089 others(3): Show a0001c0001t0003g0033 a0001c0001t0044g0326 a0001c0002t0003g0089 a0001c0002t0004g0338 a0001c0002t0008g0365 a0001c0002t0010g0090	6	109	0.0550	-20	c.-31 others(31): Show c.-3183_-3164delTATATATATATATATACACA	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding		3038		chr22	TogoVar
ADAD1_chr4_122374011_122434784	122378285	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02922.hp1 HG03041.hp2 others(5): Show HG02559.hp1 HG02922.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0037 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043	8	12	0.6667	-20	c.-91 others(29): Show c.-912_-893delAAAAAAAAAAAAAAAAAAAA	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding		725		chr4	TogoVar
ADAM10_chr15_58583809_58754707	58586916	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03453.hp1 HG03579.hp1 HG03225.hp2 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0096 a0001c0001t0019g0097 a0001c0001t0019g0098 a0001c0001t0019g0096 a0001c0001t0019g0097 a0001c0001t0019g0098	3	26	0.1154	-20	c.10 others(33): Show c.10611_*10630delACACACACACACACACACAC	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding		1892		chr15	TogoVar
ADAM10_chr15_58583809_58754707	58685545	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0065 a0001c0001t0117g0065	1	16	0.0625	-20	c.207 others(37): Show c.207-3251_207-3232delATATATATATATATATATAT	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM12_chr10_126007391_126393477	126049988	GTGGCTGG others(13): Show GTGGCTGGCTGGCTGGCTGGC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0167 a0002c0006t0001g0167	1	16	0.0625	-20	c.161 others(37): Show c.1610-339_1610-320delGCCAGCCAGCCAGCCAGCCA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	14/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126051536	CCCATCCA others(13): Show CCCATCCATCCATCCATCCAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01243.hp1 HG02145.hp1 others(8): Show HG00423.hp2 HG01243.hp1 HG02145.hp1 HG02165.hp1 NA18944.hp2 NA18972.hp1 NA18983.hp2 NA18989.hp2 NA19002.hp2 NA19043.hp1 NA19084.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0013 others(4): Show a0001c0002 a0001c0004 a0001c0013 a0001c0033 a0002c0001 a0002c0016 a0003c0029	a0001c0002t0014 a0001c0004t0014 a0001c0013t0001 others(5): Show a0001c0002t0014 a0001c0004t0014 a0001c0013t0001 a0001c0033t0001 a0002c0001t0014 a0002c0001t0029 a0002c0016t0001 a0003c0029t0007	a0001c0002t0014g0016 a0001c0004t0014g0121 a0001c0013t0001g0083 others(8): Show a0001c0002t0014g0016 a0001c0004t0014g0121 a0001c0013t0001g0083 a0001c0013t0001g0216 a0001c0013t0001g0217 a0001c0033t0001g0112 a0002c0001t0014g0102 a0002c0001t0029g0003 a0002c0016t0001g0054 a0002c0016t0001g0065 a0003c0029t0007g0241	11	131	0.0840	-20	c.161 others(39): Show c.1610-1887_1610-1868delATGGATGGATGGATGGATGG	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	14/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126113687	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0184 a0002c0017t0002g0184	1	133	0.0075	-20	c.604 others(37): Show c.604-3867_604-3848delATATATATATATATATATAT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126121161	TATACTAT others(13): Show TATACTATATATACTATATAC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0142 a0002c0006t0002g0142	1	250	0.0040	-20	c.417 others(37): Show c.417-2957_417-2938delGTATATAGTATATATAGTAT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126121500	ATATAATA others(13): Show ATATAATAGAAAATTATATAT	A A	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19070.hp1 NA18998.hp2 NA19070.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0023 a0002c0023t0023	a0002c0023t0023g0096 a0002c0023t0023g0161 a0002c0023t0023g0096 a0002c0023t0023g0161	2	250	0.0080	-20	c.417 others(37): Show c.417-3296_417-3277delATATATAATTTTCTATTATA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126159898	AGAGTTCT others(13): Show AGAGTTCTTAAGCACTGTGTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00597.hp2 others(27): Show HG00280.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01255.hp2 HG01346.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp2 HG02300.hp1 HG02486.hp2 HG02886.hp1 HG04228.hp1 NA18951.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp1 NA18994.hp2 NA19004.hp2 NA19011.hp2 NA19043.hp1 NA19090.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0010	a0001c0002 a0001c0003 a0001c0004 others(16): Show a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0014 a0001c0026 a0001c0032 a0001c0038 a0002c0001 a0002c0005 a0002c0007 a0002c0015 a0002c0016 a0002c0048 a0002c0052 a0003c0028 a0005c0025 a0007c0040 a0010c0035	a0001c0002t0014 a0001c0003t0003 a0001c0003t0004 others(21): Show a0001c0002t0014 a0001c0003t0003 a0001c0003t0004 a0001c0004t0035 a0001c0009t0013 a0001c0014t0004 a0001c0026t0001 a0001c0032t0008 a0001c0038t0005 a0002c0001t0001 a0002c0001t0007 a0002c0001t0014 a0002c0005t0003 a0002c0005t0005 a0002c0005t0027 a0002c0007t0002 a0002c0015t0006 a0002c0016t0001 a0002c0048t0022 a0002c0052t0004 a0003c0028t0015 a0005c0025t0021 a0007c0040t0001 a0010c0035t0004	a0001c0002t0014g0016 a0001c0003t0003g0247 a0001c0003t0004g0029 others(27): Show a0001c0002t0014g0016 a0001c0003t0003g0247 a0001c0003t0004g0029 a0001c0003t0004g0234 a0001c0004t0035g0243 a0001c0009t0013g0174 a0001c0014t0004g0229 a0001c0026t0001g0099 a0001c0032t0008g0212 a0001c0038t0005g0093 a0002c0001t0001g0075 a0002c0001t0001g0156 a0002c0001t0007g0169 a0002c0001t0014g0102 a0002c0005t0003g0052 a0002c0005t0003g0104 a0002c0005t0003g0120 a0002c0005t0005g0037 a0002c0005t0005g0159 a0002c0005t0027g0006 a0002c0007t0002g0063 a0002c0007t0002g0067 a0002c0015t0006g0119 a0002c0016t0001g0054 a0002c0048t0022g0051 a0002c0052t0004g0053 a0003c0028t0015g0235 a0005c0025t0021g0164 a0007c0040t0001g0078 a0010c0035t0004g0116	30	250	0.1200	-20	c.261 others(37): Show c.261-4613_261-4594delAACACAGTGCTTAAGAACTC	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126258384	TCCGTGCC others(13): Show TCCGTGCCCCACACGCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp1 others(74): Show HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01934.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02965.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18961.hp1 NA18962.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19084.hp2 NA19090.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0011	a0001c0002 a0001c0003 a0001c0004 others(27): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0019 a0001c0020 a0001c0031 a0001c0033 a0001c0034 a0001c0036 a0001c0038 a0002c0001 a0002c0005 a0002c0006 a0002c0007 a0002c0011 a0002c0016 a0002c0017 a0002c0023 a0002c0024 a0002c0048 a0002c0049 a0002c0052 a0003c0029 a0006c0044 a0011c0041	a0001c0002t0001 a0001c0002t0007 a0001c0002t0008 others(50): Show a0001c0002t0001 a0001c0002t0007 a0001c0002t0008 a0001c0002t0015 a0001c0002t0018 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0030 a0001c0003t0031 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0004t0035 a0001c0004t0040 a0001c0008t0002 a0001c0009t0003 a0001c0009t0013 a0001c0010t0001 a0001c0010t0002 a0001c0013t0001 a0001c0014t0003 a0001c0014t0004 a0001c0014t0005 a0001c0019t0011 a0001c0020t0043 a0001c0031t0002 a0001c0033t0001 a0001c0034t0001 a0001c0036t0004 a0001c0038t0005 a0002c0001t0001 a0002c0001t0007 a0002c0001t0009 a0002c0001t0029 a0002c0005t0003 a0002c0005t0004 a0002c0005t0005 a0002c0005t0032 a0002c0006t0001 a0002c0006t0007 a0002c0007t0002 a0002c0011t0005 a0002c0016t0001 a0002c0017t0002 a0002c0023t0023 a0002c0024t0005 a0002c0048t0022 a0002c0049t0006 a0002c0052t0004 a0003c0029t0007 a0006c0044t0036 a0011c0041t0006	a0001c0002t0001g0031 a0001c0002t0001g0038 a0001c0002t0001g0082 others(74): Show a0001c0002t0001g0031 a0001c0002t0001g0038 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0139 a0001c0002t0007g0250 a0001c0002t0008g0138 a0001c0002t0015g0088 a0001c0002t0015g0209 a0001c0002t0018g0108 a0001c0003t0003g0231 a0001c0003t0004g0089 a0001c0003t0004g0215 a0001c0003t0005g0130 a0001c0003t0030g0079 a0001c0003t0031g0191 a0001c0004t0001g0237 a0001c0004t0002g0111 a0001c0004t0002g0232 a0001c0004t0006g0239 a0001c0004t0035g0243 a0001c0004t0040g0090 a0001c0008t0002g0098 a0001c0008t0002g0220 a0001c0009t0003g0218 a0001c0009t0013g0174 a0001c0010t0001g0143 a0001c0010t0002g0091 a0001c0013t0001g0216 a0001c0013t0001g0217 a0001c0014t0003g0080 a0001c0014t0004g0229 a0001c0014t0005g0236 a0001c0019t0011g0129 a0001c0019t0011g0207 a0001c0020t0043g0208 a0001c0031t0002g0206 a0001c0033t0001g0112 a0001c0034t0001g0128 a0001c0036t0004g0030 a0001c0038t0005g0093 a0002c0001t0001g0036 a0002c0001t0001g0055 a0002c0001t0001g0058 a0002c0001t0001g0060 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0157 a0002c0001t0001g0166 a0002c0001t0007g0035 a0002c0001t0007g0046 a0002c0001t0007g0153 a0002c0001t0009g0118 a0002c0001t0029g0003 a0002c0005t0003g0066 a0002c0005t0004g0180 a0002c0005t0005g0064 a0002c0005t0005g0168 a0002c0005t0032g0186 a0002c0006t0001g0050 a0002c0006t0007g0100 a0002c0006t0007g0178 a0002c0007t0002g0063 a0002c0007t0002g0067 a0002c0011t0005g0049 a0002c0016t0001g0054 a0002c0016t0001g0065 a0002c0017t0002g0071 a0002c0023t0023g0161 a0002c0024t0005g0069 a0002c0048t0022g0051 a0002c0049t0006g0094 a0002c0052t0004g0053 a0003c0029t0007g0241 a0006c0044t0036g0197 a0011c0041t0006g0018	77	249	0.3092	-20	c.260 others(39): Show c.260+20511_260+20530delGTGGGGCGTGTGGGGCACGG	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9487817	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03041.hp2 HG03130.hp1 HG01884.hp2 HG03041.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0043 a0001c0001t0019g0044 a0001c0001t0019g0046 a0001c0001t0019g0043 a0001c0001t0019g0044 a0001c0001t0019g0046	3	229	0.0131	-20	c.23 others(31): Show c.2340_*2359delGCGCACACACACACACACAC	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding		668		chr2	TogoVar

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