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
BAIAP2_chr17_81030151_81122434	81053959	GGGGTGGG others(40): Show GGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCTGGCCCCAA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	373	0.0027	-47	c.130 others(62): Show c.130+255_130+301delTGGCCCCAAGGGTGGGAGCTGCCTCCTGAG CTGGTAGAACTGTGCCC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BANP_chr16_87946434_88082316	87967956	GTTGGTCA others(40): Show GTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01934.hp1 others(1): Show HG01257.hp1 HG01258.hp1 HG01934.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0243 a0001c0001t0006g0244 a0001c0001t0006g0245 others(1): Show a0001c0001t0006g0243 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0246	4	350	0.0114	-47	c.-68 others(64): Show c.-68-7087_-68-7041delTCAGGCTGGTCTCGAACTCCCGACCTCA GGTGATCCACCCGCCTTGG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	87996460	AGCTGGGC others(40): Show AGCTGGGCTCTGGTTCTGAGTGTTGCTGGGCCCTCGTCCTGGGCGCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(178): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18973.hp2 NA18975.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(14): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0014 a0001c0020 a0001c0023 a0001c0026 a0001c0027 a0001c0032 a0001c0033 a0002c0018 a0002c0019 a0002c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0004t0004 a0001c0004t0012 a0001c0007t0001 a0001c0007t0002 a0001c0007t0005 a0001c0008t0001 a0001c0009t0001 a0001c0009t0005 a0001c0010t0007 a0001c0012t0001 a0001c0014t0001 a0001c0014t0019 a0001c0020t0007 a0001c0023t0005 a0001c0026t0004 a0001c0027t0007 a0001c0032t0005 a0001c0033t0001 a0002c0018t0016 a0002c0019t0017 a0002c0019t0018 a0002c0029t0001	a0001c0001t0001g0006 a0001c0001t0001g0093 a0001c0001t0001g0106 others(175): Show a0001c0001t0001g0006 a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0284 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0002g0182 a0001c0001t0005g0253 a0001c0001t0006g0197 a0001c0001t0006g0199 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0243 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0261 a0001c0001t0006g0263 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0013g0206 a0001c0001t0014g0194 a0001c0001t0020g0262 a0001c0004t0004g0064 a0001c0004t0004g0065 a0001c0004t0004g0066 a0001c0004t0004g0115 a0001c0004t0004g0124 a0001c0004t0004g0125 a0001c0004t0004g0128 a0001c0004t0004g0129 a0001c0004t0004g0130 a0001c0004t0004g0131 a0001c0004t0004g0135 a0001c0004t0004g0136 a0001c0004t0004g0137 a0001c0004t0004g0138 a0001c0004t0004g0141 a0001c0004t0004g0142 a0001c0004t0004g0143 a0001c0004t0004g0144 a0001c0004t0004g0147 a0001c0004t0004g0149 a0001c0004t0004g0151 a0001c0004t0004g0152 a0001c0004t0004g0153 a0001c0004t0004g0154 a0001c0004t0004g0156 a0001c0004t0004g0166 a0001c0004t0004g0167 a0001c0004t0004g0341 a0001c0004t0004g0342 a0001c0004t0012g0134 a0001c0004t0012g0139 a0001c0007t0001g0094 a0001c0007t0001g0096 a0001c0007t0001g0116 a0001c0007t0001g0117 a0001c0007t0001g0118 a0001c0007t0001g0159 a0001c0007t0001g0332 a0001c0007t0002g0208 a0001c0007t0002g0214 a0001c0007t0005g0090 a0001c0007t0005g0091 a0001c0007t0005g0119 a0001c0007t0005g0278 a0001c0008t0001g0007 a0001c0008t0001g0109 a0001c0008t0001g0110 a0001c0008t0001g0111 a0001c0008t0001g0268 a0001c0008t0001g0269 a0001c0008t0001g0271 a0001c0009t0001g0190 a0001c0009t0005g0005 a0001c0009t0005g0098 a0001c0009t0005g0099 a0001c0009t0005g0100 a0001c0009t0005g0101 a0001c0009t0005g0102 a0001c0009t0005g0103 a0001c0009t0005g0104 a0001c0009t0005g0105 a0001c0010t0007g0122 a0001c0010t0007g0123 a0001c0010t0007g0126 a0001c0010t0007g0148 a0001c0010t0007g0150 a0001c0010t0007g0155 a0001c0010t0007g0157 a0001c0010t0007g0158 a0001c0012t0001g0160 a0001c0012t0001g0161 a0001c0014t0001g0095 a0001c0014t0001g0097 a0001c0014t0019g0200 a0001c0020t0007g0140 a0001c0020t0007g0146 a0001c0023t0005g0285 a0001c0026t0004g0132 a0001c0027t0007g0092 a0001c0032t0005g0107 a0001c0033t0001g0179 a0002c0018t0016g0133 a0002c0019t0017g0088 a0002c0019t0018g0087 a0002c0029t0001g0174	181	349	0.5186	-47	c.363 others(64): Show c.363-7806_363-7760delGCCCTCGTCCTGGGCGCCGGCTGGGCTC TGGTTCTGAGTGTTGCTGG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	87996494	CGTCCTGG others(40): Show CGTCCTGGGCGCCGGCTGGGCTCTGGTTCTGAGTGTTGCTGGTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp2 HG03225.hp2 others(2): Show HG01109.hp1 HG02572.hp2 HG03225.hp2 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0008 a0001c0030 a0001c0007 a0001c0008 a0001c0030	a0001c0007t0005 a0001c0008t0001 a0001c0030t0001 a0001c0007t0005 a0001c0008t0001 a0001c0030t0001	a0001c0007t0005g0108 a0001c0007t0005g0112 a0001c0007t0005g0113 others(2): Show a0001c0007t0005g0108 a0001c0007t0005g0112 a0001c0007t0005g0113 a0001c0008t0001g0165 a0001c0030t0001g0086	5	350	0.0143	-47	c.363 others(64): Show c.363-7759_363-7713delTCCCTGGTCCTGGGCGCCGGCTGGGCTC TGGTTCTGAGTGTTGCTGG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BATF2_chr11_64982945_65001971	64983525	TATTTTAT others(40): Show TATTTTATTTTATATTTTATTTTATATTTTATTTTATATTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	393	0.0025	-47	c.55 others(58): Show c.5557_*5603delTAAAATAAAATATAAAATAAAATATAAAATAAAA TATAAAATAAAAT	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		4419		chr11	TogoVar
BAZ2B_chr2_159313979_159621548	159325070	ATATATAT others(40): Show ATATATATTATATATATATATATTATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	214	0.0047	-47	c.621 others(64): Show c.6210-163_6210-117delAAATATATATATATATATATATATAATA TATATATATATAATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36			chr2	TogoVar
BBS9_chr7_33124564_33611069	33279145	GAGCCTCC others(40): Show GAGCCTCCTGAGTAGCTACAACTATAGGCATATGCCTCCTCCTGTCTC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0016 a0002c0002t0011g0016	1	266	0.0038	-47	c.101 others(66): Show c.1016+5225_1016+5271delTCCTCCTGTCTCAGCCTCCTGAGTAG CTACAACTATAGGCATATGCC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCL9_chr1_147536501_147631216	147541072	AGAGAGAG others(40): Show AGAGAGAGAGAGAAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG01168.hp1 others(25): Show HG00323.hp2 HG00621.hp1 HG01168.hp1 HG01169.hp2 HG01978.hp1 HG01981.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02895.hp1 HG03209.hp2 HG03225.hp1 HG03710.hp2 HG03831.hp1 NA18942.hp2 NA18966.hp1 NA18966.hp2 NA18989.hp1 NA19002.hp1 NA19012.hp1 NA19054.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0023 a0001c0007t0009 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 others(24): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0074 a0001c0001t0001g0104 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0002g0034 a0001c0001t0002g0176 a0001c0001t0004g0001 a0001c0001t0004g0066 a0001c0001t0004g0125 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0005g0004 a0001c0001t0005g0075 a0001c0001t0005g0105 a0001c0001t0005g0155 a0001c0001t0006g0271 a0001c0001t0007g0149 a0001c0001t0009g0270 a0001c0001t0011g0139 a0001c0001t0023g0208 a0001c0007t0009g0273 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0005g0082	28	314	0.0892	-47	c.-10 others(58): Show c.-1079_-1033delGAGAGAGAGAGAAGAGAGAGAGAGAGAAGAGAGA GAGAGAGAGAGAG	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		428		chr1	TogoVar
BLM_chr15_90712346_90821166	90819305	ATCCACGG others(40): Show ATCCACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	278	0.0036	-47	c.40 others(58): Show c.4027_*4073delTCCACGGCCCCACAGAGGGTTCGGTGACGCCTGG GAAGGTGCCGGGT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding		3140		chr15	TogoVar
BMAL1_chr11_13272790_13392266	13284224	ATATGTGT others(40): Show ATATGTGTGTGTATATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	312	0.0032	-47	c.-26 others(66): Show c.-263+6303_-263+6349delATGTGTGTGTATATATATATATATAT ATATATATATATATATTTTTT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BNIP5_chr6_36310761_36341888	36324571	GATATTAT others(40): Show GATATTATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0006 a0006	a0006c0024 a0006c0024	a0006c0024t0001 a0006c0024t0001	a0006c0024t0001g0120 a0006c0024t0001g0120	1	393	0.0025	-47	c.116 others(64): Show c.1169-428_1169-382delATATATATATATATATATATATATATAT ATATATATATATATAATAT	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BORCS8_chr19_19171906_19197152	19177677	GAAGGAAG others(40): Show GAAGGAAGGAAGGAAGGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG01884.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	2	403	0.0050	-47	c.43 others(62): Show c.43-264_*43-218delTCTTTTCTTTTCTTTTCTTTTCTTTTCTCT TCCTTCCTTCCTTCCTT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPIFA2_chr20_33163159_33186412	33185331	CCCCCCAC others(40): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGAGGGGGGCTAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02055.hp2 others(33): Show HG01109.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0003 a0003c0006 others(1): Show a0001c0001 a0002c0003 a0003c0006 a0005c0008	a0001c0001t0001 a0002c0003t0001 a0003c0006t0001 others(2): Show a0001c0001t0001 a0002c0003t0001 a0003c0006t0001 a0003c0006t0002 a0005c0008t0001	a0001c0001t0001g0037 a0002c0003t0001g0005 a0002c0003t0001g0006 others(12): Show a0001c0001t0001g0037 a0002c0003t0001g0005 a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0011 a0002c0003t0001g0015 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0003c0006t0001g0025 a0003c0006t0002g0014 a0005c0008t0001g0012	36	376	0.0957	-47	c.41 others(58): Show c.4146_*4192delCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGAGGGGGGCTAA	BPIFA2	ENSG00000131050.11	transcript	ENST00000354932.6	protein_coding		3920		chr20	TogoVar
BPIFA2_chr20_33163159_33186412	33185356	CGGCTGGC others(40): Show CGGCTGGCCGGGAGGGGGGCTAACCCCCACCTCCCTCCCGGACGGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	376	0.0027	-47	c.41 others(58): Show c.4171_*4217delGGCTGGCCGGGAGGGGGGCTAACCCCCACCTCCC TCCCGGACGGGGT	BPIFA2	ENSG00000131050.11	transcript	ENST00000354932.6	protein_coding		3945		chr20	TogoVar
BRD1_chr22_49768283_49832873	49802492	ATTCCCCA others(40): Show ATTCCCCAACATCGCAGGGGCCGAGACCAATGCCTCCACTCTCTTCCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01515.hp2 NA18995.hp1 HG00140.hp2 HG01515.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0077 a0001c0001t0002g0140 a0001c0001t0005g0150 a0001c0001t0002g0077 a0001c0001t0002g0140 a0001c0001t0005g0150	3	256	0.0117	-47	c.152 others(66): Show c.1524+1665_1524+1711delAGGAAGAGAGTGGAGGCATTGGTCTC GGCCCCTGCGATGTTGGGGAA	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	3/12			chr22	TogoVar
BRSK2_chr11_1384934_1467689	1417784	TGGCTGTT others(40): Show TGGCTGTTTCTTCTCTTGAGAGTGGGTCACCTGTGTCCTGCTTCTGTG	T T	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0298 a0002c0002t0007g0298	1	333	0.0030	-47	c.92- others(64): Show c.92-18179_92-18133delCTGTGTCCTGCTTCTGTGGGCTGTTTCT TCTCTTGAGAGTGGGTCAC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1429975	GGGTCTGG others(40): Show GGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0095 a0002c0002t0002g0095	1	355	0.0028	-47	c.92- others(62): Show c.92-5991_92-5945delTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1430143	CCAGCAGT others(40): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18990.hp1 NA18945.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0268 a0001c0001t0003g0228 a0001c0001t0003g0268	2	296	0.0068	-47	c.92- others(62): Show c.92-5756_92-5710delTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431109	GGGTCTGG others(40): Show GGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0044 a0002c0002t0019g0044	1	348	0.0029	-47	c.92- others(62): Show c.92-4810_92-4764delCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431230	CCAGCAGT others(40): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT	C C	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	335	0.0030	-47	c.92- others(62): Show c.92-4622_92-4576delTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431418	TCAGCAGT others(40): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0287 a0001c0003t0004g0287	1	252	0.0040	-47	c.92- others(62): Show c.92-4387_92-4341delCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431769	GGGTCTGG others(40): Show GGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	345	0.0029	-47	c.92- others(62): Show c.92-4174_92-4128delTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431912	GGGTCTGG others(40): Show GGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02040.hp2 HG02165.hp2 others(2): Show HG00544.hp2 HG02040.hp2 HG02165.hp2 NA18980.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0020 a0002c0002t0056 a0002c0002t0002 a0002c0002t0020 a0002c0002t0056	a0002c0002t0002g0101 a0002c0002t0002g0120 a0002c0002t0002g0159 others(2): Show a0002c0002t0002g0101 a0002c0002t0002g0120 a0002c0002t0002g0159 a0002c0002t0020g0160 a0002c0002t0056g0334	5	348	0.0144	-47	c.92- others(62): Show c.92-4007_92-3961delCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432033	CCAGCAGT others(40): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0307 a0001c0001t0011g0307	1	320	0.0031	-47	c.92- others(62): Show c.92-4007_92-3961delCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432505	TCAGCAGT others(40): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0053	a0002c0002t0053g0142 a0002c0002t0053g0142	1	242	0.0041	-47	c.92- others(62): Show c.92-3206_92-3160delCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432834	CCAGCAGT others(40): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01496.hp1 HG01884.hp1 others(3): Show HG00438.hp1 HG01496.hp1 HG01884.hp1 HG03017.hp2 NA18990.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0008 a0001c0001 a0002c0002 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0002c0002t0008 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0008 a0002c0002t0033 a0002c0008t0005	a0001c0001t0001g0075 a0001c0001t0003g0228 a0001c0001t0003g0263 others(3): Show a0001c0001t0001g0075 a0001c0001t0003g0228 a0001c0001t0003g0263 a0002c0002t0008g0166 a0002c0002t0033g0279 a0002c0008t0005g0278	6	336	0.0179	-47	c.92- others(62): Show c.92-3006_92-2960delGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCTCAGCAGTGAGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1433034	GTCTTCTG others(40): Show GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02132.hp2 HG02280.hp2 others(6): Show HG01255.hp1 HG02132.hp2 HG02280.hp2 HG03225.hp1 NA18940.hp1 NA18971.hp2 NA18990.hp2 NA18994.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0005 others(5): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0019 a0002c0002t0058 a0002c0002t0071	a0001c0001t0001g0065 a0001c0001t0001g0072 a0002c0002t0002g0102 others(6): Show a0001c0001t0001g0065 a0001c0001t0001g0072 a0002c0002t0002g0102 a0002c0002t0005g0267 a0002c0002t0007g0293 a0002c0002t0008g0183 a0002c0002t0019g0044 a0002c0002t0058g0322 a0002c0002t0071g0249	9	357	0.0252	-47	c.92- others(62): Show c.92-2959_92-2913delCTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCTCAGCAGTGAGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C13orf46_chr13_113948705_113979076	113974168	TGCAGGCC others(40): Show TGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG03669.hp1 HG03704.hp1 others(1): Show HG02258.hp2 HG03669.hp1 HG03704.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0056 a0001c0001t0057 others(1): Show a0001c0001t0015 a0001c0001t0056 a0001c0001t0057 a0001c0001t0071	a0001c0001t0015g0133 a0001c0001t0056g0175 a0001c0001t0057g0107 others(1): Show a0001c0001t0015g0133 a0001c0001t0056g0175 a0001c0001t0057g0107 a0001c0001t0071g0108	4	387	0.0103	-47	c.-21 others(56): Show c.-218_-172delGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAG CCCCGGCCTGC	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		93		chr13	TogoVar
C13orf46_chr13_113948705_113979076	113974227	CTGGGGCG others(40): Show CTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02896.hp2 HG02897.hp1 others(1): Show HG02615.hp1 HG02896.hp2 HG02897.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0048 a0001c0001t0020g0158 a0001c0001t0020g0172 a0001c0001t0020g0048 a0001c0001t0020g0158 a0001c0001t0020g0172	4	364	0.0110	-47	c.-27 others(56): Show c.-277_-231delACCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAG AACCCGCCCCA	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		152		chr13	TogoVar
C16orf74_chr16_85702517_85756096	85719785	GAGGGGCC others(40): Show GAGGGGCCACAGGCCACAGCACACACAAAGGCCCTGAGGCAGGAACAT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG03239.hp1 HG02630.hp2 HG02717.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0391 a0001c0001t0001g0393 a0001c0001t0001g0180 a0001c0001t0001g0391 a0001c0001t0001g0393	3	394	0.0076	-47	c.29- others(62): Show c.29-9525_29-9479delATGTTCCTGCCTCAGGGCCTTTGTGTGTGC TGTGGCCTGTGGCCCCT	C16orf74	ENSG00000154102.11	transcript	ENST00000284245.9	protein_coding	2/3			chr16	TogoVar
C16orf74_chr16_85702517_85756096	85719832	TAGGGGCC others(40): Show TAGGGGCCACAGGCCACAGCACACACAAAGGCCCTGAGGCAGGAACAG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02486.hp1 others(7): Show HG01167.hp2 HG01169.hp1 HG02486.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02976.hp1 HG03688.hp2 NA19030.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0150 a0001c0001t0001g0154 others(7): Show a0001c0001t0001g0054 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0219 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0370 a0001c0001t0001g0376	10	402	0.0249	-47	c.29- others(62): Show c.29-9572_29-9526delCTGTTCCTGCCTCAGGGCCTTTGTGTGTGC TGTGGCCTGTGGCCCCT	C16orf74	ENSG00000154102.11	transcript	ENST00000284245.9	protein_coding	2/3			chr16	TogoVar
C19orf12_chr19_29693937_29720261	29695992	TGACACCC others(40): Show TGACACCCAGACACCCAGACAACTGACACCCTGACATCTGGACACCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	416	0.0024	-47	c.66 others(58): Show c.6673_*6719delTGGGTGTCCAGATGTCAGGGTGTCAGTTGTCTGG GTGTCTGGGTGTC	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		2944		chr19	TogoVar
C19orf12_chr19_29693937_29720261	29719561	TAATATAA others(40): Show TAATATAAATATATATATTTATATAATATAAATATATATATTTATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	416	0.0024	-47	c.-44 others(58): Show c.-4494_-4448delTATATAAATATATATATTTATATTATATAAATAT ATATATTTATATT	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		4301		chr19	TogoVar
C1orf21_chr1_184382029_184634019	184456565	CTCTTTAG others(40): Show CTCTTTAGAAACAGTTATGATAGCACAGGTGCCAGATTTGATATTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01192.hp1 HG01257.hp2 others(7): Show HG00408.hp2 HG01192.hp1 HG01257.hp2 HG02258.hp1 HG02615.hp2 HG02965.hp1 HG03195.hp1 HG03471.hp1 NA18948.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0027	a0001c0001t0001g0142 a0001c0001t0001g0159 a0001c0001t0001g0160 others(7): Show a0001c0001t0001g0142 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0226 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0167 a0001c0001t0003g0162 a0001c0001t0027g0231	10	230	0.0435	-47	c.-12 others(68): Show c.-124-20773_-124-20727delTCTTTAGAAACAGTTATGATAGCA CAGGTGCCAGATTTGATATTTTT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C20orf203_chr20_32626625_32678941	32632114	GCGTGGAA others(40): Show GCGTGGAACCCAGAGCAGTCTCCCCAGCCTGGGCTTGCATTTGAGCCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	358	0.0028	-47	c.34 others(58): Show c.3409_*3455delAGGCTCAAATGCAAGCCCAGGCTGGGGAGACTGC TCTGGGTTCCACG	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding	6/6	18271		chr20	TogoVar
C2CD6_chr2_201482421_201624178	201563422	CCCCTCAC others(40): Show CCCCTCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	268	0.0037	-47	c.977 others(64): Show c.977+2260_977+2306delTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGAGGG	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	9/15			chr2	TogoVar
C2orf50_chr2_11128128_11156317	11149663	GATCACTG others(40): Show GATCACTGCCTTCCAGCCTGGGTGACAGAATGAGACCCTATCTCAAAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0030 a0001c0001t0087g0030	1	378	0.0026	-47	c.55 others(58): Show c.5554_*5600delTCACTGCCTTCCAGCCTGGGTGACAGAATGAGAC CCTATCTCAAAAA	C2orf50	ENSG00000150873.12	transcript	ENST00000381585.8	protein_coding	3/3	5554	INFO_REALIGN_3_PRIME	chr2	TogoVar
C6orf58_chr6_127572174_127596820	127596038	CTACTGGG others(40): Show CTACTGGGTACATAACGAAATGAAGGCAGAAATAAAGATGTTCTTTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	452	0.0022	-47	c.44 others(58): Show c.4417_*4463delTACTGGGTACATAACGAAATGAAGGCAGAAATAA AGATGTTCTTTGA	C6orf58	ENSG00000184530.9	transcript	ENST00000329722.8	protein_coding		4219		chr6	TogoVar
CA6_chr1_8940868_8980092	8973737	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0382 a0006c0010t0001g0382	1	450	0.0022	-47	c.845 others(62): Show c.845-882_845-836delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13240642	CGCAGTGA others(40): Show CGCAGTGACTGTGTGTGTGGATAGTGACTGTGTGTGCAGTGTCTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02895.hp1 HG03453.hp2 HG02280.hp2 HG02895.hp1 HG03453.hp2	a0003 a0017 a0034 a0003 a0017 a0034	a0003c0077 a0017c0078 a0034c0081 a0003c0077 a0017c0078 a0034c0081	a0003c0077t0003 a0017c0078t0008 a0034c0081t0008 a0003c0077t0003 a0017c0078t0008 a0034c0081t0008	a0003c0077t0003g0023 a0017c0078t0008g0149 a0034c0081t0008g0152 a0003c0077t0003g0023 a0017c0078t0008g0149 a0034c0081t0008g0152	3	216	0.0139	-47	c.495 others(66): Show c.4950+4493_4950+4539delACACAGACACTGCACACACAGTCACT ATCCACACACACAGTCACTGC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	31/46			chr19	TogoVar
CACTIN_chr19_3605645_3631790	3605783	CAGACACA others(40): Show CAGACACACACAAGCAGAAACACAACAGACACACAGACACACGCAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0013 a0002c0001t0001g0013	1	406	0.0025	-47	c.60 others(58): Show c.6093_*6139delATCTGCGTGTGTCTGTGTGTCTGTTGTGTTTCTG CTTGTGTGTGTCT	CACTIN	ENSG00000105298.14	transcript	ENST00000429344.7	protein_coding		4861		chr19	TogoVar
CACTIN_chr19_3605645_3631790	3605819	ACACACGC others(40): Show ACACACGCAGATAGACACACACAAGCAGAAACACAACAGACACACAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(214): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0003 a0001c0004 others(8): Show a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0012 a0001c0020 a0001c0021 a0002c0001 a0002c0009 a0002c0018 a0006c0008	a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 others(17): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0002t0010 a0001c0003t0003 a0001c0004t0003 a0001c0004t0004 a0001c0010t0003 a0001c0012t0003 a0001c0020t0003 a0001c0021t0004 a0002c0001t0001 a0002c0001t0015 a0002c0001t0016 a0002c0001t0017 a0002c0001t0018 a0002c0001t0019 a0002c0009t0001 a0002c0018t0001 a0006c0008t0001	a0001c0002t0002g0006 a0001c0002t0002g0011 a0001c0002t0002g0116 others(86): Show a0001c0002t0002g0006 a0001c0002t0002g0011 a0001c0002t0002g0116 a0001c0002t0004g0068 a0001c0002t0004g0172 a0001c0002t0004g0173 a0001c0002t0004g0175 a0001c0002t0009g0060 a0001c0002t0010g0059 a0001c0003t0003g0002 a0001c0003t0003g0012 a0001c0003t0003g0016 a0001c0003t0003g0036 a0001c0003t0003g0039 a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0042 a0001c0003t0003g0070 a0001c0003t0003g0111 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0129 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0003g0137 a0001c0004t0003g0125 a0001c0004t0004g0030 a0001c0004t0004g0031 a0001c0004t0004g0035 a0001c0004t0004g0038 a0001c0004t0004g0051 a0001c0004t0004g0124 a0001c0004t0004g0126 a0001c0004t0004g0127 a0001c0004t0004g0134 a0001c0004t0004g0185 a0001c0010t0003g0128 a0001c0010t0003g0130 a0001c0012t0003g0120 a0001c0020t0003g0131 a0001c0021t0004g0123 a0002c0001t0001g0001 a0002c0001t0001g0013 a0002c0001t0001g0017 a0002c0001t0001g0018 a0002c0001t0001g0019 a0002c0001t0001g0020 a0002c0001t0001g0026 a0002c0001t0001g0044 a0002c0001t0001g0045 a0002c0001t0001g0046 a0002c0001t0001g0048 a0002c0001t0001g0049 a0002c0001t0001g0050 a0002c0001t0001g0138 a0002c0001t0001g0139 a0002c0001t0001g0141 a0002c0001t0001g0143 a0002c0001t0001g0145 a0002c0001t0001g0146 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0151 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0155 a0002c0001t0001g0156 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0161 a0002c0001t0001g0163 a0002c0001t0001g0164 a0002c0001t0001g0165 a0002c0001t0001g0166 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0170 a0002c0001t0001g0174 a0002c0001t0001g0177 a0002c0001t0015g0144 a0002c0001t0016g0149 a0002c0001t0017g0162 a0002c0001t0018g0150 a0002c0001t0019g0142 a0002c0009t0001g0047 a0002c0018t0001g0140 a0006c0008t0001g0043	217	406	0.5345	-47	c.60 others(58): Show c.6057_*6103delGCTGTGTGTCTGTTGTGTTTCTGCTTGTGTGTGT CTATCTGCGTGTG	CACTIN	ENSG00000105298.14	transcript	ENST00000429344.7	protein_coding		4825		chr19	TogoVar
CAMK1D_chr10_12344547_12840545	12522849	AGGGCGGC others(40): Show AGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCGGACG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01884.hp1 others(13): Show HG00621.hp2 HG00735.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG02132.hp1 HG02280.hp2 HG02559.hp2 HG02922.hp2 HG03225.hp1 HG03669.hp2 HG04199.hp1 HG04199.hp2 NA18945.hp1 NA18953.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0001t0037 a0001c0001t0081 a0001c0001t0102 a0001c0001t0103 a0001c0002t0015 a0001c0002t0016 a0001c0002t0067	a0001c0001t0002g0032 a0001c0001t0002g0176 a0001c0001t0004g0025 others(13): Show a0001c0001t0002g0032 a0001c0001t0002g0176 a0001c0001t0004g0025 a0001c0001t0005g0189 a0001c0001t0006g0075 a0001c0001t0009g0072 a0001c0001t0030g0092 a0001c0001t0032g0042 a0001c0001t0035g0106 a0001c0001t0037g0052 a0001c0001t0081g0096 a0001c0001t0102g0010 a0001c0001t0103g0162 a0001c0002t0015g0050 a0001c0002t0016g0166 a0001c0002t0067g0053	16	214	0.0748	-47	c.93- others(64): Show c.93-30340_93-30294delCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGCTGACCCCCCACCT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691377	AAATATAT others(40): Show AAATATATATATATATATATATATATAAATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0143 a0001c0001t0026g0143	1	212	0.0047	-47	c.299 others(66): Show c.299+24568_299+24614delAATATATATATATATATATATATATA AATATATATATATATATATTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10			chr10	TogoVar
CAMTA1_chr1_6780454_7774706	7601142	CGGCTGGC others(40): Show CGGCTGGCCGGGCAGGGGGCTGACCCCCACCTCCCTCCCGGACGGGGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp2 HG02451.hp2 others(3): Show HG01243.hp1 HG02257.hp2 HG02451.hp2 HG02622.hp2 HG02630.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0002t0001 a0001c0010t0004 a0001c0015t0006	a0001c0001t0001g0006 a0001c0001t0002g0002 a0001c0001t0020g0049 others(3): Show a0001c0001t0001g0006 a0001c0001t0002g0002 a0001c0001t0020g0049 a0001c0002t0001g0020 a0001c0010t0004g0031 a0001c0015t0006g0043	6	58	0.1034	-47	c.511 others(66): Show c.511-39252_511-39206delGCCGGGCAGGGGGCTGACCCCCACCT CCCTCCCGGACGGGGTGGCTG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN12_chr19_38725192_38749474	38731840	CAAATATC others(40): Show CAAATATCTACCAAGTAAGTGCCATTTCATGCTGTGCCCAGTGCCAGG	C C	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0024 a0024	a0024c0016 a0024c0016	a0024c0016t0005 a0024c0016t0005	a0024c0016t0005g0251 a0024c0016t0005g0251	1	340	0.0029	-47	c.195 others(64): Show c.1958-664_1958-618delCCTGGCACTGGGCACAGCATGAAATGGC ACTTACTTGGTAGATATTT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	18/20			chr19	TogoVar
CAPZA1_chr1_112614832_112676616	112639866	GGGGGGTC others(40): Show GGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18991.hp1 NA19004.hp2 others(2): Show NA18957.hp2 NA18991.hp1 NA19004.hp2 NA19058.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0202 a0001c0001t0006g0211 a0001c0001t0006g0221 others(2): Show a0001c0001t0006g0202 a0001c0001t0006g0211 a0001c0001t0006g0221 a0001c0001t0006g0223 a0001c0001t0006g0250	5	366	0.0137	-47	c.40- others(62): Show c.40-7338_40-7292delTCAGCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGG	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERG_chr19_38330830_38375943	38344804	ATATAGTA others(40): Show ATATAGTACATACCTGTACATACATATATATGTATATACCTGTACATG	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02135.hp1 HG02004.hp2 HG02135.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0164 a0003c0004t0001g0166 a0003c0004t0001g0164 a0003c0004t0001g0166	2	374	0.0053	-47	c.669 others(62): Show c.669+437_669+483delTATAGTACATACCTGTACATACATATATAT GTATATACCTGTACATG	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	6/28			chr19	TogoVar
CAV1_chr7_116520036_116566179	116555497	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01515.hp1 HG01517.hp1 HG00408.hp2 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0189 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0189	3	141	0.0213	-47	c.196 others(64): Show c.196-3446_196-3400delGAAAGAAAGAAAGAAAGAAAGAGAGAGA GAGAGAGAGAGAGAGAGAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555501	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03490.hp1 HG01891.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0103 a0001c0001t0002g0247 a0001c0001t0001g0103 a0001c0001t0002g0247	2	193	0.0104	-47	c.196 others(64): Show c.196-3442_196-3396delGAAAGAAAGAAAGAAAGAGAGAGAGAGA GAGAGAGAGAGAGAAAGAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar

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