Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ACSS3_chr12_81073079_81266210	81172259	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00597.hp2 others(71): Show HG00099.hp1 HG00323.hp2 HG00597.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01257.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp2 HG02280.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 NA18939.hp1 NA18952.hp2 NA18953.hp2 NA18960.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18986.hp2 NA18989.hp2 NA18994.hp2 NA19003.hp1 NA19055.hp1 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19077.hp2 NA19088.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0022 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0002t0032 a0001c0005t0005 a0001c0006t0011 a0002c0003t0005 a0002c0004t0003 a0002c0004t0004	a0001c0001t0001g0074 a0001c0001t0001g0205 a0001c0001t0001g0239 others(71): Show a0001c0001t0001g0074 a0001c0001t0001g0205 a0001c0001t0001g0239 a0001c0001t0003g0032 a0001c0001t0003g0099 a0001c0001t0003g0187 a0001c0001t0003g0200 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0240 a0001c0001t0003g0245 a0001c0001t0003g0247 a0001c0001t0003g0252 a0001c0001t0003g0254 a0001c0001t0003g0256 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0261 a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0288 a0001c0001t0004g0021 a0001c0001t0004g0057 a0001c0001t0004g0072 a0001c0001t0004g0079 a0001c0001t0004g0088 a0001c0001t0004g0090 a0001c0001t0004g0093 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0122 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0175 a0001c0001t0004g0178 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0232 a0001c0001t0012g0165 a0001c0001t0012g0177 a0001c0001t0022g0244 a0001c0001t0027g0077 a0001c0001t0029g0264 a0001c0001t0030g0228 a0001c0002t0032g0126 a0001c0005t0005g0222 a0001c0005t0005g0223 a0001c0006t0011g0234 a0001c0006t0011g0255 a0002c0003t0005g0152 a0002c0003t0005g0154 a0002c0003t0005g0156 a0002c0003t0005g0157 a0002c0004t0003g0229 a0002c0004t0003g0230 a0002c0004t0003g0280 a0002c0004t0003g0287 a0002c0004t0004g0284 a0002c0004t0004g0285	74	153	0.4837	8	c.109 others(27): Show c.1099-2518_1099-2511dupAAAAAAAA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81202279	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG02922.hp2 others(4): Show HG02559.hp2 HG02572.hp2 HG02922.hp2 HG02976.hp1 HG03209.hp1 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0005t0007 a0001c0001t0004 a0001c0005t0007	a0001c0001t0004g0178 a0001c0005t0007g0003 a0001c0005t0007g0011 others(4): Show a0001c0001t0004g0178 a0001c0005t0007g0003 a0001c0005t0007g0011 a0001c0005t0007g0012 a0001c0005t0007g0150 a0001c0005t0007g0151 a0001c0005t0007g0289	7	283	0.0247	8	c.135 others(27): Show c.1354+2855_1354+2862dupTAAATAAA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213896	T T	TTTTCCTT others(1): Show TTTTCCTTC	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19065.hp1 NA20752.hp1 HG02129.hp1 NA19065.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0021 a0001c0002t0002 a0001c0002t0021	a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0021g0121 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0021g0121	3	247	0.0121	8	c.135 others(27): Show c.1355-3005_1355-3004insTTTCCTTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15			chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213957	C C	CTCTTTCT others(1): Show CTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG01346.hp2 others(8): Show HG00323.hp1 HG00735.hp1 HG01346.hp2 HG01981.hp1 HG01981.hp2 HG02698.hp1 HG03540.hp1 NA18957.hp1 NA18972.hp1 NA19054.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0025	a0001c0001t0001g0014 a0001c0001t0001g0062 a0001c0001t0001g0070 others(8): Show a0001c0001t0001g0014 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0149 a0001c0001t0001g0243 a0001c0001t0003g0031 a0001c0001t0008g0135 a0001c0001t0025g0040	11	70	0.1571	8	c.135 others(27): Show c.1355-2901_1355-2894dupTTTCTTTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81227398	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01069.hp2 others(14): Show HG00099.hp1 HG00323.hp2 HG01069.hp2 HG01106.hp2 HG01952.hp1 HG02486.hp1 HG02683.hp2 HG02717.hp2 HG02965.hp1 HG03209.hp2 HG03492.hp1 HG03516.hp2 HG03927.hp2 NA18955.hp1 NA19078.hp2 NA19080.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0028 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0028 a0001c0002t0002 a0001c0002t0021 a0001c0005t0005 a0002c0003t0005 a0002c0014t0003	a0001c0001t0001g0074 a0001c0001t0003g0200 a0001c0001t0003g0201 others(14): Show a0001c0001t0001g0074 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0028g0038 a0001c0002t0002g0024 a0001c0002t0002g0036 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0141 a0001c0002t0021g0121 a0001c0005t0005g0222 a0001c0005t0005g0223 a0002c0003t0005g0278 a0002c0003t0005g0279 a0002c0003t0005g0281 a0002c0014t0003g0233	17	124	0.1371	8	c.151 others(27): Show c.1515-3641_1515-3634dupCACACACA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81251669	A A	AAAAAAAA others(1): Show AAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00738.hp2 others(45): Show HG00423.hp2 HG00558.hp2 HG00738.hp2 HG01069.hp2 HG01106.hp2 HG01109.hp2 HG01952.hp1 HG02074.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02451.hp2 HG02630.hp1 HG02683.hp2 HG03041.hp1 HG03225.hp2 HG03492.hp1 HG03831.hp1 HG04184.hp2 NA18943.hp2 NA18944.hp1 NA18951.hp2 NA18960.hp2 NA18965.hp2 NA18968.hp2 NA18970.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp2 NA18983.hp1 NA18986.hp1 NA19009.hp1 NA19011.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19065.hp1 NA19068.hp2 NA19077.hp1 NA19080.hp2 NA19084.hp2 NA19088.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0008 a0001c0016 others(2): Show a0001c0002 a0001c0008 a0001c0016 a0002c0009 a0004c0012	a0001c0002t0002 a0001c0002t0009 a0001c0002t0021 others(6): Show a0001c0002t0002 a0001c0002t0009 a0001c0002t0021 a0001c0002t0024 a0001c0002t0032 a0001c0008t0002 a0001c0016t0002 a0002c0009t0002 a0004c0012t0002	a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0036 others(45): Show a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0036 a0001c0002t0002g0056 a0001c0002t0002g0075 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0094 a0001c0002t0002g0098 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0138 a0001c0002t0002g0141 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0185 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0203 a0001c0002t0002g0227 a0001c0002t0002g0246 a0001c0002t0009g0137 a0001c0002t0009g0166 a0001c0002t0009g0174 a0001c0002t0009g0179 a0001c0002t0021g0121 a0001c0002t0024g0182 a0001c0002t0032g0126 a0001c0008t0002g0133 a0001c0008t0002g0134 a0001c0016t0002g0039 a0002c0009t0002g0269 a0002c0009t0002g0270 a0004c0012t0002g0066	48	288	0.1667	8	c.172 others(27): Show c.1720-1631_1720-1630insGAAAAAAA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTA1_chr1_229426245_229439094	229438951	A A	AAATGAAT others(1): Show AAATGAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	319	0.0094	8	c.-49 others(19): Show c.-4961_-4960insCATTCATT	ACTA1	ENSG00000143632.15	transcript	ENST00000366684.7	protein_coding		4858		chr1	TogoVar
ACTA2_chr10_88930074_88957773	88934612	T T	TACACACA others(1): Show TACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02895.hp1 others(6): Show HG02109.hp2 HG02717.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03209.hp1 HG03516.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0004 a0001c0001t0001g0102 a0001c0001t0001g0103	9	45	0.2000	8	c.60 others(17): Show c.603_*610dupGTGTGTGT	ACTA2	ENSG00000107796.13	transcript	ENST00000224784.10	protein_coding		461		chr10	TogoVar
ACTG2_chr2_73888008_73924865	73901532	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18947.hp2 NA18951.hp2 others(4): Show HG02074.hp2 NA18947.hp2 NA18951.hp2 NA18973.hp2 NA19043.hp2 NA19064.hp2 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004	a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0219 others(4): Show a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0219 a0001c0002t0002g0268 a0001c0002t0003g0346 a0001c0002t0004g0073 a0001c0002t0004g0287	7	291	0.0241	8	c.126 others(23): Show c.126+137_126+144dupGTGTGTGT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73902037	G G	GTGTGTGT others(1): Show GTGTGTGTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03225.hp2 HG03579.hp2 others(2): Show HG02280.hp2 HG03225.hp2 HG03579.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0004	a0001c0001t0001g0351 a0001c0001t0002g0224 a0001c0001t0004g0027 others(2): Show a0001c0001t0001g0351 a0001c0001t0002g0224 a0001c0001t0004g0027 a0001c0001t0004g0390 a0001c0003t0004g0069	5	407	0.0123	8	c.127 others(23): Show c.127-320_127-319insGTGTCTGT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73902039	G G	GTGTGTGT others(1): Show GTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp1 HG01123.hp2 others(2): Show HG00423.hp1 HG00735.hp1 HG01123.hp2 HG02965.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0149 a0001c0001t0001g0214 a0001c0001t0001g0324 others(1): Show a0001c0001t0001g0149 a0001c0001t0001g0214 a0001c0001t0001g0324 a0001c0002t0006g0004	5	235	0.0213	8	c.127 others(23): Show c.127-320_127-319insGTGTGTCT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904773	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02970.hp1 HG03098.hp1 HG02622.hp2 HG02970.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0221 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0002g0221 a0001c0002t0003g0256 a0001c0002t0003g0257	3	402	0.0075	8	c.255 others(25): Show c.255+2286_255+2287insATATATAT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904777	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02080.hp2 HG02300.hp1 HG02027.hp1 HG02080.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0354 a0001c0002t0002g0240 a0001c0002t0002g0303 a0001c0001t0001g0354 a0001c0002t0002g0240 a0001c0002t0002g0303	3	261	0.0115	8	c.255 others(25): Show c.255+2320_255+2327dupTATATATA	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(1): Show TAATAAATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03579.hp2 NA20300.hp2 others(1): Show HG02970.hp2 HG03579.hp2 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0146 a0001c0001t0001g0351 a0001c0001t0004g0390 others(1): Show a0001c0001t0001g0146 a0001c0001t0001g0351 a0001c0001t0004g0390 a0001c0001t0007g0036	4	395	0.0101	8	c.256 others(25): Show c.256-2209_256-2208insTAAATAAA	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(1): Show AATAAATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(168): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18991.hp1 NA18992.hp1 NA18999.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19012.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0005t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(156): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0333 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0347 a0001c0001t0001g0350 a0001c0001t0001g0353 a0001c0001t0001g0358 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0374 a0001c0001t0001g0382 a0001c0001t0001g0385 a0001c0001t0002g0121 a0001c0001t0002g0308 a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0021 a0001c0001t0003g0037 a0001c0001t0003g0060 a0001c0001t0003g0067 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0084 a0001c0001t0003g0093 a0001c0001t0003g0100 a0001c0001t0003g0105 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0134 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0153 a0001c0001t0003g0177 a0001c0001t0003g0189 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0201 a0001c0001t0003g0210 a0001c0001t0003g0226 a0001c0001t0003g0235 a0001c0001t0003g0247 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0255 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0315 a0001c0001t0003g0318 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0335 a0001c0001t0003g0343 a0001c0001t0003g0366 a0001c0001t0003g0375 a0001c0001t0003g0389 a0001c0001t0004g0077 a0001c0001t0004g0114 a0001c0001t0005g0058 a0001c0001t0005g0102 a0001c0001t0006g0249 a0001c0005t0001g0386 a0002c0004t0001g0135	171	409	0.4181	8	c.256 others(25): Show c.256-2187_256-2186insAATACATA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73924580	A A	ATTTTTTT others(1): Show ATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG01169.hp1 others(3): Show HG01109.hp2 HG01167.hp2 HG01169.hp1 HG03130.hp1 HG03195.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0372 others(3): Show a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0372 a0001c0001t0005g0377 a0001c0001t0005g0378 a0001c0001t0005g0379	6	166	0.0361	8	c.50 others(19): Show c.5005_*5006insTTTTTTTT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding		4716		chr2	TogoVar
ACTL6A_chr3_179557926_179593407	179579455	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01071.hp1 others(12): Show HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01175.hp2 HG01358.hp1 HG02129.hp1 HG02886.hp1 HG03209.hp1 HG03239.hp1 HG03486.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0055 others(7): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0100 a0001c0001t0001g0145 a0001c0001t0001g0176 a0001c0002t0001g0017 a0001c0002t0001g0161 a0001c0002t0001g0162	15	60	0.2500	8	c.769 others(25): Show c.769-1157_769-1150dupCACACACA	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACTL6A_chr3_179557926_179593407	179579455	T T	TATACACA others(1): Show TATACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp2 HG01346.hp2 others(14): Show HG00438.hp1 HG00738.hp2 HG01346.hp2 HG01928.hp1 HG02027.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG04204.hp2 NA18969.hp2 NA18972.hp1 NA19012.hp1 NA19055.hp2 NA19082.hp2 NA19083.hp2 NA19088.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0083 a0001c0001t0001g0103 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0003t0001g0004	17	62	0.2742	8	c.769 others(25): Show c.769-1184_769-1183insTACACACA	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACTL8_chr1_17750333_17832063	17796306	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01070.hp1 HG02056.hp1 others(23): Show HG00408.hp2 HG01070.hp1 HG02056.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03453.hp1 HG04115.hp2 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18957.hp1 NA18957.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp2 NA19000.hp1 NA19007.hp1 NA19012.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0008 others(3): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0002c0004 a0003c0007	a0001c0001t0001 a0001c0003t0006 a0001c0008t0001 others(3): Show a0001c0001t0001 a0001c0003t0006 a0001c0008t0001 a0002c0002t0001 a0002c0004t0001 a0003c0007t0001	a0001c0001t0001g0052 a0001c0001t0001g0116 a0001c0001t0001g0181 others(23): Show a0001c0001t0001g0052 a0001c0001t0001g0116 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0333 a0001c0001t0001g0358 a0001c0003t0006g0332 a0001c0008t0001g0113 a0001c0008t0001g0184 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0183 a0002c0004t0001g0242 a0002c0004t0001g0243 a0002c0004t0001g0259 a0002c0004t0001g0261 a0002c0004t0001g0262 a0002c0004t0001g0263 a0002c0004t0001g0267 a0002c0004t0001g0268 a0002c0004t0001g0270 a0002c0004t0001g0273 a0002c0004t0001g0294 a0003c0007t0001g0050	26	42	0.6190	8	c.-24 others(27): Show c.-24-26655_-24-26648dupGTGTGTGT	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(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00735.hp1 others(33): Show HG00558.hp2 HG00597.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01167.hp1 HG01169.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01952.hp2 HG02015.hp1 HG02145.hp2 HG02615.hp1 HG02717.hp1 HG02970.hp1 HG02976.hp2 HG03471.hp1 NA18612.hp1 NA18906.hp1 NA18943.hp2 NA18959.hp1 NA18967.hp1 NA18972.hp1 NA18975.hp2 NA18986.hp2 NA19001.hp1 NA19004.hp1 NA19004.hp2 NA19063.hp1 NA19070.hp1 NA19084.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0004 a0002c0011	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0005t0001 a0001c0005t0003 a0002c0002t0001 a0002c0004t0001 a0002c0004t0004 a0002c0011t0005	a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0111 others(32): Show a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0167 a0001c0001t0001g0341 a0001c0001t0005g0044 a0001c0003t0001g0076 a0001c0003t0001g0133 a0001c0003t0001g0196 a0001c0005t0001g0323 a0001c0005t0001g0324 a0001c0005t0003g0355 a0002c0002t0001g0004 a0002c0002t0001g0018 a0002c0002t0001g0029 a0002c0002t0001g0037 a0002c0002t0001g0074 a0002c0002t0001g0084 a0002c0002t0001g0114 a0002c0002t0001g0148 a0002c0002t0001g0155 a0002c0002t0001g0216 a0002c0004t0001g0030 a0002c0004t0001g0038 a0002c0004t0001g0053 a0002c0004t0001g0078 a0002c0004t0001g0106 a0002c0004t0001g0169 a0002c0004t0004g0234 a0002c0004t0004g0237 a0002c0004t0004g0238 a0002c0004t0004g0241 a0002c0011t0005g0043 a0002c0011t0005g0336	36	249	0.1446	8	c.-24 others(27): Show c.-24-20540_-24-20533dupGTGTGTGT	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(1): Show AAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01074.hp2 others(20): Show HG00140.hp1 HG00280.hp1 HG01074.hp2 HG01361.hp1 HG01943.hp2 HG01981.hp2 HG02055.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02486.hp2 HG02717.hp2 HG02886.hp1 HG03239.hp1 HG03471.hp1 HG03669.hp1 HG04184.hp1 NA18960.hp1 NA18977.hp1 NA19011.hp2 NA19054.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0001g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0001g0000 a0003c0003t0001g0000	23	74	0.3108	8	c.25 others(19): Show c.2597_*2598insCTCTCTCT	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding		2546		chr19	TogoVar
ACTMAP_chr19_40735861_40755477	40753384	G G	GTTTTTTT others(1): Show GTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01192.hp2 others(8): Show HG00738.hp1 HG00741.hp1 HG01192.hp2 HG01255.hp2 HG01361.hp1 HG02886.hp2 HG02976.hp1 HG03486.hp2 HG06807.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0040 a0001c0001t0005g0103 others(2): Show a0001c0001t0005g0005 a0001c0001t0005g0040 a0001c0001t0005g0103 a0001c0001t0005g0105 a0001c0001t0005g0110	11	87	0.1264	8	c.-35 others(19): Show c.-3589_-3582dupAAAAAAAA	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding		2908		chr19	TogoVar
ACTN2_chr1_236681499_236769631	236709220	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01099.hp1 HG02698.hp2 others(4): Show HG00423.hp1 HG01099.hp1 HG02698.hp2 NA18612.hp1 NA18942.hp2 NA18972.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0002t0002	a0001c0001t0001g0182 a0001c0001t0001g0228 a0001c0001t0004g0224 others(4): Show a0001c0001t0001g0182 a0001c0001t0001g0228 a0001c0001t0004g0224 a0001c0001t0010g0045 a0001c0002t0002g0184 a0001c0002t0002g0215 a0001c0002t0002g0229	7	198	0.0354	8	c.127 others(25): Show c.127-8609_127-8602dupTATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236709255	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03831.hp1 NA19084.hp1 others(1): Show HG03516.hp1 HG03831.hp1 NA19084.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0007t0015	a0001c0001t0003g0171 a0001c0001t0004g0293 a0001c0001t0017g0098 others(1): Show a0001c0001t0003g0171 a0001c0001t0004g0293 a0001c0001t0017g0098 a0001c0007t0015g0097	4	189	0.0212	8	c.127 others(25): Show c.127-8593_127-8586dupCACACACA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236709255	T T	TATACACA others(1): Show TATACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01258.hp2 HG01496.hp2 others(3): Show HG00738.hp2 HG01258.hp2 HG01496.hp2 HG02055.hp1 HG04184.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0274 others(3): Show a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0274 a0001c0001t0001g0291 a0001c0001t0001g0305 a0001c0001t0003g0106	6	191	0.0314	8	c.127 others(25): Show c.127-8602_127-8601insTACACACA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236761432	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG01981.hp2 others(17): Show HG01109.hp2 HG01891.hp2 HG01981.hp2 HG02109.hp1 HG02257.hp1 HG02486.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02895.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03471.hp1 HG03516.hp2 NA19030.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0003c0026	a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 others(5): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0003t0005 a0001c0007t0015 a0003c0026t0005	a0001c0001t0005g0149 a0001c0001t0005g0179 a0001c0001t0009g0073 others(17): Show a0001c0001t0005g0149 a0001c0001t0005g0179 a0001c0001t0009g0073 a0001c0001t0009g0092 a0001c0001t0009g0119 a0001c0001t0009g0150 a0001c0001t0009g0185 a0001c0001t0011g0074 a0001c0001t0011g0091 a0001c0001t0014g0083 a0001c0001t0014g0085 a0001c0001t0014g0087 a0001c0001t0015g0117 a0001c0003t0005g0048 a0001c0003t0005g0049 a0001c0003t0005g0051 a0001c0003t0005g0068 a0001c0003t0005g0170 a0001c0007t0015g0097 a0003c0026t0005g0077	20	92	0.2174	8	c.252 others(25): Show c.2526+278_2526+285dupGTGTGTGT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN4_chr19_38642649_38736589	38673567	T T	TTATATAA others(1): Show TTATATAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp1 others(77): Show HG00099.hp2 HG00140.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00738.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01175.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02145.hp1 HG02155.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02630.hp2 HG02809.hp2 HG03130.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18969.hp1 NA18975.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19070.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0019 a0001c0002 a0004c0019	a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 others(6): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0030 a0001c0002t0031 a0001c0002t0038 a0001c0002t0039 a0001c0002t0044 a0004c0019t0046	a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0009 others(77): Show a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0197 a0001c0002t0001g0218 a0001c0002t0001g0281 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0292 a0001c0002t0001g0296 a0001c0002t0005g0055 a0001c0002t0006g0024 a0001c0002t0006g0214 a0001c0002t0006g0215 a0001c0002t0006g0216 a0001c0002t0006g0217 a0001c0002t0006g0219 a0001c0002t0006g0220 a0001c0002t0030g0046 a0001c0002t0031g0052 a0001c0002t0038g0008 a0001c0002t0039g0293 a0001c0002t0044g0070 a0004c0019t0046g0032	80	312	0.2564	8	c.162 others(27): Show c.162+25666_162+25667insAATATATA	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38679568	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01981.hp2 HG02055.hp2 others(8): Show HG00738.hp2 HG01981.hp2 HG02055.hp2 HG02155.hp1 HG02523.hp2 HG02896.hp2 HG03471.hp2 HG03669.hp2 HG03688.hp2 HG04115.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0001t0040 a0001c0002t0001 others(2): Show a0001c0001t0016 a0001c0001t0040 a0001c0002t0001 a0001c0002t0005 a0001c0002t0030	a0001c0001t0016g0302 a0001c0001t0040g0298 a0001c0002t0001g0034 others(8): Show a0001c0001t0016g0302 a0001c0001t0040g0298 a0001c0002t0001g0034 a0001c0002t0001g0042 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0218 a0001c0002t0001g0281 a0001c0002t0001g0287 a0001c0002t0005g0055 a0001c0002t0030g0046	11	109	0.1009	8	c.163 others(27): Show c.163-21007_163-21000dupGTGTGTGT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTR1A_chr10_102474229_102507712	102500600	C C	CAAACAAA others(1): Show CAAACAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(79): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00597.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02280.hp1 HG02300.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03579.hp2 HG03654.hp1 HG03831.hp2 HG04199.hp1 HG04228.hp1 NA18941.hp2 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18955.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18974.hp2 NA18995.hp1 NA19000.hp1 NA19011.hp1 NA19030.hp1 NA19067.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0003g0051 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0010g0145 a0001c0001t0013g0132	82	336	0.2440	8	c.48+ others(23): Show c.48+1992_48+1999dupTTTTGTTT	ACTR1A	ENSG00000138107.13	transcript	ENST00000369905.9	protein_coding	1/10			chr10	TogoVar
ACTR2_chr2_65222831_65276253	65225849	A A	ATTTTTTT others(1): Show ATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG00741.hp2 others(8): Show HG00099.hp2 HG00741.hp1 HG00741.hp2 HG02109.hp1 HG02280.hp2 HG02615.hp1 HG02965.hp2 HG03098.hp2 HG03139.hp2 HG04115.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012	a0001c0001t0002g0038 a0001c0001t0002g0221 a0001c0001t0002g0226 others(6): Show a0001c0001t0002g0038 a0001c0001t0002g0221 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0005g0249 a0001c0001t0006g0260 a0001c0001t0006g0263 a0001c0001t0012g0033 a0001c0001t0012g0034	11	212	0.0519	8	c.-20 others(19): Show c.-2061_-2060insTTTTTTTT	ACTR2	ENSG00000138071.15	transcript	ENST00000260641.10	protein_coding		1981		chr2	TogoVar
ACTR2_chr2_65222831_65276253	65267862	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01346.hp2 others(7): Show HG01081.hp2 HG01099.hp1 HG01346.hp2 HG02257.hp2 HG02273.hp2 HG02717.hp1 HG03516.hp2 NA18991.hp1 NA19087.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0012 a0001c0001t0002g0041 a0001c0001t0002g0102 others(6): Show a0001c0001t0002g0012 a0001c0001t0002g0041 a0001c0001t0002g0102 a0001c0001t0002g0253 a0001c0001t0003g0049 a0001c0001t0003g0061 a0001c0001t0003g0067 a0001c0001t0003g0103 a0001c0001t0003g0190	10	28	0.3571	8	c.101 others(25): Show c.1015-681_1015-674dupTTTTTTTT	ACTR2	ENSG00000138071.15	transcript	ENST00000260641.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTR3B_chr7_152754752_152860378	152812019	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01071.hp2 HG01169.hp1 others(22): Show HG00423.hp2 HG01071.hp2 HG01169.hp1 HG01257.hp1 HG01258.hp1 HG01884.hp1 HG01884.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG03098.hp1 HG03239.hp1 HG03486.hp2 HG03516.hp1 HG04228.hp2 NA18948.hp1 NA18950.hp2 NA18978.hp1 NA18981.hp1 NA18990.hp1 NA18991.hp1 NA18994.hp2 NA19067.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 others(22): Show a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0002g0179 a0001c0002t0001g0192	25	42	0.5952	8	c.337 others(25): Show c.337-2509_337-2502dupTTTTTTTT	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150280798	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01952.hp1 HG02572.hp1 others(9): Show HG00673.hp1 HG01952.hp1 HG02572.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02970.hp2 HG03579.hp2 NA18979.hp2 NA19030.hp2 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006	a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0207 others(9): Show a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0207 a0002c0002t0001g0114 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0001g0238 a0002c0002t0002g0008 a0002c0002t0002g0126 a0002c0002t0006g0286	12	223	0.0538	8	c.564 others(25): Show c.564+3947_564+3954dupCACACACA	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	6/7			chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150297851	C C	CAAACAAA others(1): Show CAAACAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01515.hp2 HG02258.hp1 others(7): Show HG00544.hp2 HG01515.hp2 HG02258.hp1 HG02615.hp1 HG02723.hp2 HG02735.hp1 HG03195.hp2 HG03491.hp1 HG03704.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004	a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 others(7): Show a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0235 a0002c0002t0001g0267 a0002c0002t0002g0174 a0002c0002t0004g0133 a0002c0002t0004g0134	10	173	0.0578	8	c.-51 others(25): Show c.-51-2505_-51-2504insTTTTGTTT	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	1/7			chr7	TogoVar
ACTR5_chr20_38743460_38777520	38776911	T T	TTGTGTGT others(1): Show TTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01255.hp2 HG01361.hp2 others(3): Show HG00140.hp2 HG01255.hp2 HG01361.hp2 HG02723.hp2 NA19085.hp1 NA21309.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0006 a0002c0003 a0005c0006	a0002c0003t0005 a0005c0006t0003 a0002c0003t0005 a0005c0006t0003	a0002c0003t0005g0047 a0002c0003t0005g0122 a0002c0003t0005g0124 others(1): Show a0002c0003t0005g0047 a0002c0003t0005g0122 a0002c0003t0005g0124 a0005c0006t0003g0005	6	300	0.0200	8	c.50 others(19): Show c.5095_*5096insTGTGTGTG	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding		4392		chr20	TogoVar
ACTR6_chr12_100195815_100229424	100198756	T T	TACACACA others(1): Show TACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp2 NA18971.hp2 others(4): Show HG02523.hp1 HG02523.hp2 NA18971.hp2 NA18972.hp2 NA18979.hp1 NA19068.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0024 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0127	7	82	0.0854	8	c.-20 others(19): Show c.-2096_-2095insACACACAC	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		2058		chr12	TogoVar
ACTR6_chr12_100195815_100229424	100200509	G G	GACACACA others(1): Show GACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02965.hp2 NA21309.hp2 HG02735.hp1 HG02965.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0135 a0001c0001t0002g0145 a0001c0001t0006g0130 a0001c0001t0001g0135 a0001c0001t0002g0145 a0001c0001t0006g0130	3	93	0.0323	8	c.-34 others(17): Show c.-343_-342insACACACAC	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		305		chr12	TogoVar
ACTRT2_chr1_3016467_3027903	3016543	G G	GAGGGAGA others(1): Show GAGGGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(68): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01256.hp2 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02273.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02922.hp1 HG03041.hp2 HG03225.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18959.hp1 NA18964.hp1 NA18964.hp2 NA18973.hp2 NA18975.hp1 NA18983.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19085.hp2 NA19090.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0004t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0004t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0004c0005t0001	a0001c0001t0001g0000 a0001c0004t0002g0000 a0002c0002t0001g0000 others(3): Show a0001c0001t0001g0000 a0001c0004t0002g0000 a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0002t0005g0000 a0004c0005t0001g0000	71	354	0.2006	8	c.-51 others(19): Show c.-5144_-5143insAGGGAGAA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4923		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770455	T T	TATTATAT others(1): Show TATTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG01433.hp1 others(24): Show HG00408.hp1 HG00639.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18999.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0002g0006 a0001c0001t0002g0030	27	414	0.0652	8	c.-93 others(17): Show c.-936_-935insCATATAAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		895		chr3	TogoVar
ACVR1C_chr2_157521767_157633864	157554201	G G	GAGAAAGA others(1): Show GAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp2 HG01168.hp2 others(5): Show HG00741.hp1 HG01074.hp2 HG01168.hp2 HG02809.hp1 HG03710.hp2 NA18998.hp2 NA19062.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0016 a0002c0003t0002	a0001c0001t0001g0002 a0001c0002t0001g0045 a0001c0002t0001g0055 others(5): Show a0001c0001t0001g0002 a0001c0002t0001g0045 a0001c0002t0001g0055 a0001c0002t0001g0112 a0001c0002t0001g0119 a0001c0002t0003g0090 a0001c0002t0016g0037 a0002c0003t0002g0060	8	55	0.1455	8	c.544 others(25): Show c.544+1884_544+1891dupTTCTTTCT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157588848	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00621.hp1 others(16): Show HG00609.hp1 HG00609.hp2 HG00621.hp1 HG01106.hp1 HG01884.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02572.hp1 HG02897.hp2 HG03239.hp2 HG03486.hp2 HG03927.hp1 NA18612.hp2 NA18970.hp2 NA19072.hp1 NA19084.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(12): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0032 a0001c0001t0033 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0031 a0001c0002t0038 a0002c0003t0002 a0002c0003t0006 a0002c0003t0007 a0002c0003t0020 a0002c0003t0021	a0001c0001t0001g0013 a0001c0001t0001g0155 a0001c0001t0001g0200 others(16): Show a0001c0001t0001g0013 a0001c0001t0001g0155 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0005g0213 a0001c0001t0012g0193 a0001c0001t0032g0170 a0001c0001t0033g0195 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0002t0003g0072 a0001c0002t0004g0122 a0001c0002t0031g0083 a0001c0002t0038g0071 a0002c0003t0002g0120 a0002c0003t0006g0077 a0002c0003t0007g0076 a0002c0003t0020g0079 a0002c0003t0021g0099	19	38	0.5000	8	c.74- others(23): Show c.74-1439_74-1432dupATATATAT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157629587	T T	TACACACA others(1): Show TACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01256.hp1 HG02630.hp1 others(6): Show HG00544.hp2 HG01256.hp1 HG02630.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp1 HG03453.hp2 HG06807.hp1 NA18612.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0033 a0002c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0033 a0002c0003t0002 a0002c0003t0005	a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0033g0195 others(6): Show a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0033g0195 a0002c0003t0002g0057 a0002c0003t0005g0008 a0002c0003t0005g0095 a0002c0003t0005g0096 a0002c0003t0005g0097 a0002c0003t0005g0098	9	51	0.1765	8	c.-94 others(17): Show c.-944_-943insGTGTGTGT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding		724		chr2	TogoVar
ACVR1_chr2_157731446_157881330	157757021	G G	GATATATA others(1): Show GATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02074.hp2 HG01168.hp1 HG01169.hp1 HG02074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0005 a0001c0005t0001 a0001c0005t0005	a0001c0005t0001g0064 a0001c0005t0001g0123 a0001c0005t0005g0004 a0001c0005t0001g0064 a0001c0005t0001g0123 a0001c0005t0005g0004	3	156	0.0192	8	c.126 others(27): Show c.1264+3851_1264+3858dupATATATAT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	9/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157855300	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03209.hp1 HG02895.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0038 a0001c0003t0001g0023 a0001c0002t0001g0038 a0001c0003t0001g0023	2	165	0.0121	8	c.-18 others(29): Show c.-183+20495_-183+20496insTATATATA	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157862422	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp2 HG01169.hp1 others(22): Show HG01074.hp1 HG01168.hp2 HG01169.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp2 HG02155.hp2 HG02486.hp2 HG02559.hp1 HG03041.hp1 HG03491.hp1 HG03492.hp2 HG03834.hp2 HG04228.hp1 NA18942.hp2 NA18950.hp1 NA18954.hp1 NA18965.hp2 NA18978.hp1 NA18981.hp1 NA19043.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0005t0001 a0001c0005t0005	a0001c0001t0001g0106 a0001c0001t0001g0131 a0001c0001t0001g0137 others(22): Show a0001c0001t0001g0106 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0002g0086 a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0128 a0001c0001t0010g0003 a0001c0001t0014g0087 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0145 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0132 a0001c0002t0010g0008 a0001c0003t0001g0104 a0001c0003t0003g0144 a0001c0003t0005g0007 a0001c0005t0001g0123 a0001c0005t0005g0004	25	48	0.5208	8	c.-18 others(29): Show c.-183+13366_-183+13373dupGTGTGTGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157865821	A A	AAGATAGA others(1): Show AAGATAGAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp2 HG01168.hp2 others(20): Show HG00558.hp1 HG00735.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01261.hp1 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02698.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03834.hp1 HG03927.hp1 HG06807.hp2 NA18906.hp1 NA18956.hp1 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0003t0004 a0001c0003t0005 a0001c0005t0005 a0001c0006t0006	a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0093 others(20): Show a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0093 a0001c0001t0001g0116 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0092 a0001c0001t0010g0003 a0001c0002t0001g0028 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0098 a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0002t0005g0006 a0001c0003t0004g0167 a0001c0003t0004g0168 a0001c0003t0005g0005 a0001c0005t0005g0004 a0001c0006t0006g0140	23	90	0.2556	8	c.-18 others(27): Show c.-183+9967_-183+9974dupATCTATCT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147845000	G G	GTTTTTTT others(1): Show GTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG01069.hp2 others(29): Show HG00140.hp1 HG00544.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01884.hp1 HG02004.hp1 HG02015.hp1 HG03490.hp1 HG03669.hp1 HG03927.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18951.hp2 NA18961.hp2 NA18965.hp2 NA18974.hp2 NA18977.hp2 NA18985.hp1 NA18986.hp2 NA18989.hp1 NA18991.hp1 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19060.hp2 NA19068.hp2 NA19075.hp2 NA19085.hp1 NA19088.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0005 a0003c0006 a0001c0002 a0001c0005 a0003c0006	a0001c0002t0001 a0001c0002t0020 a0001c0005t0001 others(1): Show a0001c0002t0001 a0001c0002t0020 a0001c0005t0001 a0003c0006t0008	a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0035 others(28): Show a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0035 a0001c0002t0001g0041 a0001c0002t0001g0047 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0103 a0001c0002t0001g0106 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0137 a0001c0002t0001g0141 a0001c0002t0020g0040 a0001c0005t0001g0007 a0003c0006t0008g0086	32	90	0.3556	8	c.-15 others(17): Show c.-153_-152insTTTTTTTT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		28		chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147890341	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(81): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01975.hp2 HG02015.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02155.hp1 HG02280.hp2 HG02523.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02809.hp1 HG03491.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18952.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18965.hp1 NA18981.hp2 NA18984.hp1 NA18989.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19075.hp1 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19088.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0002t0001 a0001c0002t0009 a0001c0003t0002 a0001c0004t0001 a0001c0008t0004	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 others(75): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0122 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0263 a0001c0001t0002g0274 a0001c0001t0014g0012 a0001c0001t0016g0162 a0001c0001t0017g0167 a0001c0001t0018g0014 a0001c0002t0001g0084 a0001c0002t0009g0172 a0001c0003t0002g0210 a0001c0003t0002g0211 a0001c0004t0001g0261 a0001c0004t0001g0262 a0001c0008t0004g0125	84	109	0.7706	8	c.56- others(23): Show c.56-5939_56-5932dupGTGTGTGT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVRL1_chr12_51902504_51928361	51905666	C C	CAGAGAGA others(1): Show CAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02647.hp2 NA19030.hp1 others(1): Show HG02258.hp2 HG02647.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0001c0001t0001 a0001c0001t0002 a0001c0001t0026	a0001c0001t0001g0033 a0001c0001t0002g0023 a0001c0001t0026g0104 a0001c0001t0001g0033 a0001c0001t0002g0023 a0001c0001t0026g0104	4	436	0.0092	8	c.-20 others(19): Show c.-2035_-2034insAGAGAGAG	ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding		1837		chr12	TogoVar
ACVRL1_chr12_51902504_51928361	51919363	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03209.hp2 NA18972.hp2 HG01978.hp1 HG03209.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0012g0106 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0012g0106	3	153	0.0196	8	c.137 others(25): Show c.1377+282_1377+289dupGTGTGTGT	ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr12	TogoVar

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