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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ABCA1_chr9_104776006_104933155	104862639	CGGGCCGG others(36): Show CGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA19009.hp2 NA19030.hp2 HG02132.hp1 NA19009.hp2 NA19030.hp2	a0001 a0006 a0035 a0001 a0006 a0035	a0001c0001 a0006c0004 a0035c0091 a0001c0001 a0006c0004 a0035c0091	a0001c0001t0012 a0006c0004t0010 a0035c0091t0008 a0001c0001t0012 a0006c0004t0010 a0035c0091t0008	a0001c0001t0012g0147 a0006c0004t0010g0165 a0035c0091t0008g0207 a0001c0001t0012g0147 a0006c0004t0010g0165 a0035c0091t0008g0207	3	312	0.0096	-43	c.422 others(58): Show c.422-882_422-840delCCCGGCCCGGCCCGGCCCGGCCCGGCCCGG CCCGGCCCGGCCC		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49						chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862654	CGGGCCGG others(36): Show CGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0007 a0007	a0007c0003 a0007c0003	a0007c0003t0033 a0007c0003t0033	a0007c0003t0033g0032 a0007c0003t0033g0032	1	295	0.0034	-43	c.422 others(58): Show c.422-897_422-855delCCCGGCCCGGCCCGGCCCGGCCCGGCCCGG CCCGGCCCGGCCC		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49						chr9	TogoVar
ABCA5_chr17_69239311_69332133	69298273	AAGGAAGG others(36): Show AAGGAAGGAAGGGAGGGAGGGGAAAGAGAAAGAAAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	340	0.0029	-43	c.126 others(60): Show c.1268-957_1268-915delCTCTCTCTCTTTCTTTCTCTTTCCCCTC CCTCCCTTCCTTCCT		ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38						chr17	TogoVar
ABCF3_chr3_184181199_184199005	184189906	AGTAAACT others(36): Show AGTAAACTCAAGATGCTGGAGAAGCTGTGAGTACAGCATCCTTG	A A	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18961.hp2 NA18961.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0027 a0007c0012t0001g0027	1	414	0.0024	-43	c.136 others(55): Show c.1368_1391+19delTAAACTCAAGATGCTGGAGAAGCTGTGAGTACA GCATCCTTGG	p.Ser others(19): Show p.Ser456_Leu464delinsArg	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	14/21	1377/2446	1368/2130	456/709		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD12_chr20_25295214_25395835	25394409	GCATCGTT others(36): Show GCATCGTTTGAACAATAGACACTAGATTTCTCAGTAGATAACTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0145 a0001c0002t0002g0145	1	314	0.0032	-43	c.-37 others(54): Show c.-3749_-3707delAAGTTATCTACTGAGAAATCTAGTGTCTATTGTT CAAACGATG		ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding					3575		chr20	TogoVar
ABLIM2_chr4_7960327_8163813	8091300	TTATATTA others(36): Show TTATATTATATATATATAATTATATATATATTATATATATAATA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01069.hp2 HG01109.hp2 others(28): Show HG00597.hp1 HG01069.hp2 HG01109.hp2 HG01496.hp2 HG01891.hp1 HG01952.hp1 HG01978.hp1 HG02145.hp1 HG02451.hp2 HG02622.hp1 HG02717.hp1 HG03098.hp2 HG03130.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18954.hp2 NA18970.hp1 NA18979.hp2 NA18983.hp2 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0001c0001t0028 a0001c0001t0034 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0009 a0001c0003t0023 a0001c0004t0003 a0001c0004t0004 a0004c0006t0006	a0001c0001t0001g0072 a0001c0001t0001g0106 a0001c0001t0001g0181 others(28): Show a0001c0001t0001g0072 a0001c0001t0001g0106 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0002g0213 a0001c0001t0002g0234 a0001c0001t0002g0284 a0001c0001t0003g0265 a0001c0001t0020g0002 a0001c0001t0028g0101 a0001c0001t0034g0322 a0001c0002t0001g0260 a0001c0002t0002g0129 a0001c0002t0002g0178 a0001c0002t0003g0177 a0001c0003t0001g0015 a0001c0003t0001g0076 a0001c0003t0001g0154 a0001c0003t0004g0030 a0001c0003t0006g0143 a0001c0003t0006g0144 a0001c0003t0007g0218 a0001c0003t0009g0223 a0001c0003t0023g0037 a0001c0004t0003g0248 a0001c0004t0004g0126 a0004c0006t0006g0209	31	318	0.0975	-43	c.339 others(60): Show c.339-3059_339-3017delTATTATATATATAATATATATATAATTA TATATATATAATATA		ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	3/20						chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8131623	TGCATCCC others(36): Show TGCATCCCTGAGCACAGCAGCCCGCATCCCCAGCACAGCATCCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp1 HG03209.hp1 others(1): Show HG02280.hp1 HG02965.hp1 HG03209.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0026 a0001c0002t0005 others(1): Show a0001c0001t0002 a0001c0001t0026 a0001c0002t0005 a0001c0003t0009	a0001c0001t0002g0010 a0001c0001t0026g0285 a0001c0002t0005g0090 others(1): Show a0001c0001t0002g0010 a0001c0001t0026g0285 a0001c0002t0005g0090 a0001c0003t0009g0222	4	316	0.0127	-43	c.11- others(60): Show c.11-25029_11-24987delGGGATGCTGTGCTGGGGATGCGGGCTGC TGTGCTCAGGGATGC		ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	1/20						chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8131663	TCCCGCAT others(36): Show TCCCGCATCCCTGAGCACAGCAGCCCGCATCCCCAGCACAGCAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(177): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp1 NA19088.hp1 NA19090.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0003c0009 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0028 a0001c0001t0029 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0031 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0009 a0001c0003t0021 a0001c0003t0023 a0001c0004t0002 a0001c0004t0003 a0001c0008t0006 a0003c0009t0002 a0004c0006t0006	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(177): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0244 a0001c0001t0001g0253 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0302 a0001c0001t0001g0311 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0077 a0001c0001t0002g0108 a0001c0001t0002g0130 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0182 a0001c0001t0002g0221 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0252 a0001c0001t0002g0271 a0001c0001t0002g0284 a0001c0001t0003g0012 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0062 a0001c0001t0003g0079 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0170 a0001c0001t0003g0188 a0001c0001t0003g0193 a0001c0001t0003g0202 a0001c0001t0003g0247 a0001c0001t0003g0257 a0001c0001t0003g0265 a0001c0001t0003g0270 a0001c0001t0003g0272 a0001c0001t0003g0301 a0001c0001t0004g0150 a0001c0001t0004g0156 a0001c0001t0005g0009 a0001c0001t0005g0052 a0001c0001t0005g0055 a0001c0001t0006g0078 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0007g0132 a0001c0001t0007g0309 a0001c0001t0008g0113 a0001c0001t0010g0005 a0001c0001t0011g0139 a0001c0001t0011g0173 a0001c0001t0011g0246 a0001c0001t0011g0273 a0001c0001t0012g0008 a0001c0001t0012g0256 a0001c0001t0014g0290 a0001c0001t0015g0168 a0001c0001t0015g0169 a0001c0001t0016g0233 a0001c0001t0018g0001 a0001c0001t0020g0002 a0001c0001t0022g0138 a0001c0001t0028g0101 a0001c0001t0029g0026 a0001c0002t0001g0027 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0082 a0001c0002t0001g0099 a0001c0002t0001g0118 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0134 a0001c0002t0001g0137 a0001c0002t0001g0161 a0001c0002t0001g0185 a0001c0002t0001g0194 a0001c0002t0001g0199 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0254 a0001c0002t0001g0260 a0001c0002t0001g0305 a0001c0002t0002g0085 a0001c0002t0002g0178 a0001c0002t0002g0289 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0003g0020 a0001c0002t0003g0044 a0001c0002t0003g0049 a0001c0002t0003g0088 a0001c0002t0003g0189 a0001c0002t0003g0201 a0001c0002t0003g0220 a0001c0002t0003g0227 a0001c0002t0003g0230 a0001c0002t0003g0238 a0001c0002t0003g0266 a0001c0002t0003g0280 a0001c0002t0003g0281 a0001c0002t0004g0103 a0001c0002t0005g0018 a0001c0002t0005g0050 a0001c0002t0005g0084 a0001c0002t0005g0140 a0001c0002t0005g0286 a0001c0002t0005g0292 a0001c0002t0005g0315 a0001c0002t0008g0029 a0001c0002t0008g0074 a0001c0002t0031g0319 a0001c0003t0001g0076 a0001c0003t0001g0214 a0001c0003t0002g0060 a0001c0003t0002g0064 a0001c0003t0004g0030 a0001c0003t0006g0083 a0001c0003t0007g0217 a0001c0003t0009g0211 a0001c0003t0021g0004 a0001c0003t0023g0037 a0001c0004t0002g0038 a0001c0004t0003g0033 a0001c0004t0003g0104 a0001c0004t0003g0248 a0001c0008t0006g0291 a0003c0009t0002g0171 a0004c0006t0006g0209	180	319	0.5643	-43	c.11- others(60): Show c.11-25069_11-25027delCTGCTGTGCTGGGGATGCGGGCTGCTGT GCTCAGGGATGCGGG		ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	1/20						chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8131740	AGCACAGC others(36): Show AGCACAGCAGCCCGCATCCCTGAGCACAGCAGCCCGCATCCCCT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0207 a0001c0001t0006g0207	1	315	0.0032	-43	c.11- others(60): Show c.11-25146_11-25104delAGGGGATGCGGGCTGCTGTGCTCAGGGA TGCGGGCTGCTGTGC		ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	1/20						chr4	TogoVar
ABR_chr17_998519_1184981	1052871	GGGGTCAC others(36): Show GGGGTCACAGGGTCAGAGGGAGGGTTCAGGAAGGGGCTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0082 a0001c0003t0082	a0001c0003t0082g0286 a0001c0003t0082g0286	1	336	0.0030	-43	c.156 others(62): Show c.1562-2280_1562-2238delTCCCCCAGCCCCTTCCTGAACCCTCC CTCTGACCCTGTGACCC		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22						chr17	TogoVar
ABR_chr17_998519_1184981	1131657	ACACAGCT others(36): Show ACACAGCTCCCCCTTTGCACACCAAATGCAGTGCCTGCCACGCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG01123.hp1 others(13): Show HG00280.hp2 HG00323.hp1 HG01123.hp1 HG01192.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01934.hp2 HG01943.hp1 HG02293.hp2 HG02300.hp1 HG03927.hp2 HG04199.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0030 a0001c0002t0002 a0001c0002t0084	a0001c0001t0002g0210 a0001c0001t0002g0224 a0001c0001t0003g0091 others(13): Show a0001c0001t0002g0210 a0001c0001t0002g0224 a0001c0001t0003g0091 a0001c0001t0003g0128 a0001c0001t0003g0193 a0001c0001t0003g0208 a0001c0001t0004g0257 a0001c0001t0004g0314 a0001c0001t0005g0321 a0001c0001t0006g0085 a0001c0001t0006g0095 a0001c0001t0006g0209 a0001c0001t0007g0327 a0001c0001t0030g0211 a0001c0002t0002g0065 a0001c0002t0084g0329	16	334	0.0479	-43	c.62- others(58): Show c.62-6333_62-6291delCGCGTGGCAGGCACTGCATTTGGTGTGCAA AGGGGGAGCTGTG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22						chr17	TogoVar
ACAA2_chr18_49777164_49818533	49800142	CCGGCCGG others(36): Show CCGGCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGTCAG	C C	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0243 a0001c0001t0006g0243	1	432	0.0023	-43	c.183 others(60): Show c.183+2502_183+2544delCTGACCCCCCACCTCCCTCCCAGACGGG GTGGCTGGCCGGCCG		ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9						chr18	TogoVar
ACOT11_chr1_54543228_54615329	54560956	TAGGCAAT others(36): Show TAGGCAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACA	T T	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA19007.hp2 NA18974.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0214 a0001c0001t0008g0321 a0001c0001t0002g0214 a0001c0001t0008g0321	2	386	0.0052	-43	c.33+ others(60): Show c.33+12623_33+12665delTGCCCACCTCGGCCTCCCAAAGTGCTGG GATTACAAGGCAATC		ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT7_chr1_6259272_6398767	6259908	GTCTCCTG others(36): Show GTCTCCTGCAGGGCACTTAAAGCCCTGTCTTCTGCTGGGAAGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 NA20300.hp2 HG01884.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0137 a0001c0001t0002g0138	2	238	0.0084	-43	c.46 others(54): Show c.4646_*4688delAACTTCCCAGCAGAAGACAGGGCTTTAAGTGCCC TGCAGGAGA		ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding					4363		chr1	TogoVar
ACSBG2_chr19_6130667_6198091	6161427	AGGTGGGG others(36): Show AGGTGGGGACTCTCAAAGGAAGTGAAAGGTGAGGAAAGGAAGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02027.hp1 others(12): Show HG01884.hp2 HG01891.hp1 HG02027.hp1 HG02129.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02895.hp2 HG03209.hp1 HG03453.hp2 NA18612.hp2 NA18980.hp2 NA19000.hp1 NA19030.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0007 a0008 a0009 a0013	a0001c0001 a0003c0011 a0004c0003 others(4): Show a0001c0001 a0003c0011 a0004c0003 a0007c0008 a0008c0009 a0009c0013 a0013c0016	a0001c0001t0001 a0003c0011t0001 a0004c0003t0002 others(4): Show a0001c0001t0001 a0003c0011t0001 a0004c0003t0002 a0007c0008t0002 a0008c0009t0002 a0009c0013t0002 a0013c0016t0001	a0001c0001t0001g0015 a0003c0011t0001g0144 a0003c0011t0001g0160 others(12): Show a0001c0001t0001g0015 a0003c0011t0001g0144 a0003c0011t0001g0160 a0004c0003t0002g0134 a0004c0003t0002g0135 a0004c0003t0002g0136 a0004c0003t0002g0137 a0004c0003t0002g0138 a0007c0008t0002g0145 a0007c0008t0002g0161 a0007c0008t0002g0162 a0008c0009t0002g0147 a0008c0009t0002g0164 a0009c0013t0002g0114 a0013c0016t0001g0014	15	260	0.0577	-43	c.588 others(58): Show c.588+140_588+182delACTCTCAAAGGAAGTGAAAGGTGAGGAAAG GAAGTGGGTGGGG		ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSL5_chr10_112369116_112433376	112376973	GTAAGCAC others(36): Show GTAAGCACTGGAAAGGGACTCTACCACTGGAGACCCTCAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(152): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18940.hp2 NA18945.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18977.hp2 NA18978.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19078.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0012 a0004c0006 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0002 a0001c0005t0001 a0001c0012t0001 a0004c0006t0001 a0007c0011t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(143): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0002g0007 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0204 a0001c0001t0002g0244 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0269 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0292 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0003g0230 a0001c0001t0004g0200 a0001c0003t0002g0013 a0001c0003t0002g0257 a0001c0003t0002g0258 a0001c0005t0001g0252 a0001c0005t0001g0262 a0001c0012t0001g0272 a0004c0006t0001g0166 a0004c0006t0001g0186 a0007c0011t0001g0179	155	357	0.4342	-43	c.-30 others(60): Show c.-30+2731_-30+2773delTGGAGACCCTCAGGGAATAAGCACTGGA AAGGGACTCTACCAC		ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS2_chr5_179105853_179350461	179277304	CGAGACCA others(36): Show CGAGACCAAAGGCTGACACCCCGAGACCAAAGGCTGACCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0009 a0002c0005t0009	a0002c0005t0009g0238 a0002c0005t0009g0238	1	208	0.0048	-43	c.535 others(60): Show c.535-4283_535-4241delAGGGGGGTCAGCCTTTGGTCTCGGGGTG TCAGCCTTTGGTCTC		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277724	CCCGAGAC others(36): Show CCCGAGACCAAAGGCTGACACCCCCCGAGACCAAAGGCTGACCG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0249 a0002c0005t0003g0249	1	266	0.0038	-43	c.535 others(60): Show c.535-4703_535-4661delCGGTCAGCCTTTGGTCTCGGGGGGTGTC AGCCTTTGGTCTCGG		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADARB2_chr10_1172313_1742525	1238160	CCCTCTGC others(36): Show CCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18995.hp1 HG02683.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0085 a0001c0001t0009g0055 a0001c0001t0003g0085 a0001c0001t0009g0055	2	106	0.0189	-43	c.136 others(62): Show c.1361+3928_1361+3970delAGTAAACACCGGGATGCAGGGAGTAA ACACCGGGAGGCAGAGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111171	CGCCGTGA others(36): Show CGCCGTGAGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0127 a0001c0002t0020g0127	1	342	0.0029	-43	c.401 others(60): Show c.401+8330_401+8372delGCCGTGAGCACCTCCCTCCTAATCCCTC CAGACAACCTGCCCA		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6						chr10	TogoVar
ADGRB3_chr6_68630282_69394506	68875107	TTCCTTCC others(36): Show TTCCTTCCTTTCTTTCCTTCTTTCTTTCTTCTTTCATTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	118	0.0085	-43	c.758 others(62): Show c.758-55442_758-55400delTCTTTCCTTCTTTCTTTCTTCTTTCA TTTCTTTCTCCTTCCTT		ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/31					INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRE5_chr19_14376444_14413723	14378449	AGACTCAA others(36): Show AGACTCAAGAAAGCCGCCAGGAATGGTGACTCACGCCTGTAATC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0282 a0002c0002t0001g0282	1	372	0.0027	-43	c.-30 others(54): Show c.-3074_-3032delGACTCAAGAAAGCCGCCAGGAATGGTGACTCACG CCTGTAATC		ADGRE5	ENSG00000123146.20	transcript	ENST00000242786.6	protein_coding					2994		chr19	TogoVar
AFF4_chr5_132870395_132968634	132904186	GATCGAGG others(36): Show GATCGAGGCTGCAGTGAGCTACGACCACACCACTACACTCCAGA	G G	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	390	0.0026	-43	c.108 others(60): Show c.1087+139_1087+181delTCTGGAGTGTAGTGGTGTGGTCGTAGCT CACTGCAGCCTCGAT		AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	6/20						chr5	TogoVar
AGAP2_chr12_57720197_57743742	57731174	CCTGGGGC others(36): Show CCTGGGGCAATGTATTTACCTTTACATTCCTGGCATGGGCACAT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	380	0.0026	-43	c.214 others(60): Show c.2145+149_2145+191delATGTGCCCATGCCAGGAATGTAAAGGTA AATACATTGCCCCAG		AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	10/18						chr12	TogoVar
AGO3_chr1_35926105_36077500	36077342	CTAAAAAT others(36): Show CTAAAAATATTATTAATATTTTAATAAAAATATTAATATTTTAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	256	0.0039	-43	c.21 others(56): Show c.21598_*21640delTAAAAATATTATTAATATTTTAATAAAAATAT TAATATTTTAA		AGO3	ENSG00000126070.20	transcript	ENST00000373191.9	protein_coding					4843		chr1	TogoVar
AGO4_chr1_35803016_35862890	35845113	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTGAAATGGAGTTTCTGTAATCAGACT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03017.hp2 HG02922.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0004 a0001c0001t0004 a0001c0003t0004	a0001c0001t0004g0250 a0001c0003t0004g0156 a0001c0001t0004g0250 a0001c0003t0004g0156	2	30	0.0667	-43	c.217 others(62): Show c.2175+3380_2175+3422delTTGAAATGGAGTTTCTGTAATCAGAC TTTTTTTTTTTTTTTTT		AGO4	ENSG00000134698.11	transcript	ENST00000373210.4	protein_coding	15/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
AKR1C3_chr10_5089414_5112686	5106098	GTGCCAAT others(36): Show GTGCCAATTCCCACCTCCTTCATATGGAATTGCTTGCTAGATCC	G G	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	436	0.0023	-43	c.929 others(58): Show c.929+424_929+466delCCAATTCCCACCTCCTTCATATGGAATTGC TTGCTAGATCCTG		AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
ALDH5A1_chr6_24489969_24542207	24538943	TCTTAGGA others(36): Show TCTTAGGAGATGTCATGCATCAGAAATATGTCCATGGTGGTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0319 a0001c0001t0003g0319	1	366	0.0027	-43	c.52 others(54): Show c.5232_*5274delCTTAGGAGATGTCATGCATCAGAAATATGTCCAT GGTGGTTTG		ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding					1737		chr6	TogoVar
ALOXE3_chr17_8090900_8123514	8107922	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01975.hp2 HG02004.hp1 others(1): Show HG01934.hp2 HG01975.hp2 HG02004.hp1 HG03225.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0003c0005t0001	a0001c0001t0002g0194 a0001c0001t0004g0348 a0001c0002t0001g0193 others(1): Show a0001c0001t0002g0194 a0001c0001t0004g0348 a0001c0002t0001g0193 a0003c0005t0001g0197	4	420	0.0095	-43	c.168 others(60): Show c.1684+503_1684+545delCTTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
AMACR_chr5_33981165_34013050	34004636	TGCCCAGT others(36): Show TGCCCAGTGCACACATAAGGCCACCACCAGCAAAGTCAGCCAGG	T T	frameshift_variant frameshift_variant	HIGH	HG03098.hp2 HG03098.hp2	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0004 a0017c0019t0004	a0017c0019t0004g0133 a0017c0019t0004g0133	1	436	0.0023	-43	c.447 others(50): Show c.447_489delCCTGGCTGACTTTGCTGGTGGTGGCCTTATGTGTGCAC TGGGC	p.Ala others(5): Show p.Ala151fs	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding	3/5	520/4108	447/1149	149/382			chr5	TogoVar
ANGPT2_chr8_6494632_6568245	6505296	TATATATG others(36): Show TATATATGTATATAACATATATATGTTATATACATATAGAAAGA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02145.hp1 others(2): Show HG01891.hp1 HG02109.hp1 HG02145.hp1 HG03130.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0023 a0001c0001 a0001c0003 a0001c0023	a0001c0001t0006 a0001c0003t0001 a0001c0003t0006 others(1): Show a0001c0001t0006 a0001c0003t0001 a0001c0003t0006 a0001c0023t0006	a0001c0001t0006g0320 a0001c0003t0001g0042 a0001c0003t0001g0109 others(2): Show a0001c0001t0006g0320 a0001c0003t0001g0042 a0001c0003t0001g0109 a0001c0003t0006g0281 a0001c0023t0006g0246	5	334	0.0150	-43	c.132 others(62): Show c.1328-2078_1328-2036delTCTTTCTATATGTATATAACATATAT ATGTTATATACATATAT		ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	8/8						chr8	TogoVar
ANKDD1A_chr15_64906902_64963691	64952399	CCTTCTTC others(36): Show CCTTCTTCTTCTTCTCCTTCTTAGTTTTCTTCTCCTCCTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02615.hp2 others(1): Show HG01167.hp2 HG01169.hp2 HG02615.hp2 HG03486.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0010 a0002c0003 a0005c0010	a0002c0003t0002 a0005c0010t0002 a0002c0003t0002 a0005c0010t0002	a0002c0003t0002g0035 a0002c0003t0002g0036 a0005c0010t0002g0199 others(1): Show a0002c0003t0002g0035 a0002c0003t0002g0036 a0005c0010t0002g0199 a0005c0010t0002g0205	4	333	0.0120	-43	c.148 others(62): Show c.1483+2437_1483+2479delCTTCTCCTTCTTAGTTTTCTTCTCCT CCTCCTTTCTTCTTCTT		ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64954172	TTTCTTCT others(36): Show TTTCTTCTTCTTCTCCTTCTTTCTTGTTCCTTATTCTTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(100): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02809.hp1 HG03098.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG04184.hp2 NA18747.hp1 NA18939.hp2 NA18948.hp1 NA18949.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18968.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp2 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp1 NA18992.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19068.hp2 NA19080.hp1 NA19084.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0008 a0006c0020	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001 a0002c0003t0001 a0003c0008t0001 a0006c0020t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 others(94): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0195 a0001c0001t0001g0206 a0001c0001t0001g0233 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0321 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0005g0160 a0001c0001t0005g0167 a0001c0001t0005g0171 a0001c0001t0009g0087 a0001c0001t0010g0194 a0001c0002t0001g0003 a0002c0003t0001g0186 a0002c0003t0001g0187 a0003c0008t0001g0066 a0003c0008t0001g0105 a0006c0020t0001g0129	103	331	0.3112	-43	c.148 others(62): Show c.1484-2918_1484-2876delTCCTTCTTTCTTGTTCCTTATTCTTT TCTTCTTCTTCTTCTTC		ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKLE2_chr12_132720503_132766832	132758905	AGTGGCAC others(36): Show AGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCACGCAGT	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	348	0.0029	-43	c.181 others(60): Show c.181+2670_181+2712delACTGCGTGATCCACTCTGCCACGTGGGT GCCCCGGGGTGCCAC		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12						chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759165	GGAGTGGC others(36): Show GGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCATGCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03453.hp1 NA18973.hp2 others(2): Show HG01109.hp1 HG03453.hp1 NA18973.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0002 a0001c0001t0001 a0001c0010t0002	a0001c0001t0001g0002 a0001c0001t0001g0117 a0001c0001t0001g0138 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0117 a0001c0001t0001g0138 a0001c0010t0002g0189 a0001c0010t0002g0190	5	271	0.0185	-43	c.181 others(60): Show c.181+2410_181+2452delTGCATGATCCACTCTGCCACGTGGGTGC CCCGGGGTGCCACTC		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12						chr12	TogoVar
ANKRD13D_chr11_67284303_67307484	67298056	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0136 a0004c0016t0001g0136	1	106	0.0094	-43	c.732 others(59): Show c.732-1001_732-959delTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCT		ANKRD13D	ENSG00000172932.16	transcript	ENST00000511455.7	protein_coding	6/14						chr11	TogoVar
ANKRD31_chr5_75063297_75241878	75206231	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18979.hp1 HG02165.hp2 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0080 a0001c0002t0001g0057 a0001c0002t0001g0080	2	255	0.0078	-43	c.403 others(58): Show c.403+137_403+179delATATATATATATATATATATATATATTTTT TTTTTTTTTTTTT		ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25						chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206233	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	304	0.0033	-43	c.403 others(58): Show c.403+135_403+177delATATATATATATATATATATATATATATTT TTTTTTTTTTTTT		ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25						chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206235	AAAAAAAA others(36): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0312 a0001c0009t0001g0312	1	311	0.0032	-43	c.403 others(58): Show c.403+133_403+175delATATATATATATATATATATATATATATAT TTTTTTTTTTTTT		ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25						chr5	TogoVar
ANKRD44_chr2_196981662_197315780	197140089	CCAGGGTG others(36): Show CCAGGGTGGTCTTGAACTCCTGACCTCAGGTGATCTACCTGCCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02451.hp2 others(6): Show HG01891.hp1 HG02258.hp1 HG02451.hp2 HG02809.hp1 HG02976.hp2 HG03195.hp1 HG03225.hp1 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013	a0001c0002t0002g0083 a0001c0002t0002g0106 a0001c0002t0003g0059 others(6): Show a0001c0002t0002g0083 a0001c0002t0002g0106 a0001c0002t0003g0059 a0001c0002t0003g0062 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0013g0028	9	112	0.0804	-43	c.191 others(60): Show c.191-3470_191-3428delAGGCAGGTAGATCACCTGAGGTCAGGAG TTCAAGACCACCCTG		ANKRD44	ENSG00000065413.20	transcript	ENST00000282272.15	protein_coding	3/27						chr2	TogoVar
ANLN_chr7_36384862_36458791	36443922	TGCAAATG others(36): Show TGCAAATGTTCCCTCTGGCCCCCATCACTCACCCAAATTAATAA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0364 a0004c0003t0002g0364	1	406	0.0025	-43	c.307 others(59): Show c.3078+61_3078+103delGCAAATGTTCCCTCTGGCCCCCATCACTC ACCCAAATTAATAA		ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	22/23						chr7	TogoVar
ANO5_chr11_22188085_22288357	22269480	AAAGGAAA others(36): Show AAAGGAAAGAAAAAAGAAAAGGAAGGAAAGAAAAAAAGAAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01975.hp2 HG02015.hp1 others(77): Show HG00408.hp1 HG01975.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG04184.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18977.hp2 NA18978.hp2 NA18984.hp2 NA18986.hp2 NA18993.hp1 NA18995.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp2 NA19078.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0005 a0006c0009 a0001c0001 a0003c0005 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0018 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0003c0005t0010 a0006c0009t0028	a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0123 others(72): Show a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0150 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0004g0010 a0001c0001t0004g0122 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0321 a0001c0001t0005g0322 a0001c0001t0005g0323 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0329 a0001c0001t0011g0102 a0001c0001t0011g0103 a0001c0001t0011g0104 a0001c0001t0011g0105 a0001c0001t0011g0106 a0001c0001t0018g0316 a0001c0001t0026g0117 a0001c0001t0027g0195 a0001c0001t0029g0259 a0003c0005t0010g0028 a0003c0005t0010g0029 a0003c0005t0010g0030 a0003c0005t0010g0031 a0003c0005t0010g0032 a0003c0005t0010g0033 a0006c0009t0028g0288	80	181	0.4420	-43	c.189 others(60): Show c.1899-817_1899-775delGAAAAGGAAGGAAAGAAAAAAAGAAAAG GAAGGAAAGAAAAAA		ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr11	TogoVar
ANTXR1_chr2_69008179_69254327	69252210	CTCAACAG others(36): Show CTCAACAGGCCCTGGCCACTCTACATGTTACTTCTGTGACTGTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	204	0.0049	-43	c.67 others(54): Show c.6726_*6768delTCAACAGGCCCTGGCCACTCTACATGTTACTTCT GTGACTGTT		ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding					2884		chr2	TogoVar
ANXA10_chr4_168087537_168192736	168181079	GTTAATAA others(36): Show GTTAATAACCTAGGTCTCTTTGAAGCTCTATTAATTTAATATTC	G G	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	282	0.0035	-43	c.725 others(58): Show c.725-603_725-561delTTAATAACCTAGGTCTCTTTGAAGCTCTAT TAATTTAATATTC		ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	9/11						chr4	TogoVar
AP3B1_chr5_77997326_78299698	78110761	TTCATGTA others(36): Show TTCATGTATATATACGTATATATATACGTATATGAGACAGGGTC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01943.hp1 HG01993.hp2 others(1): Show HG01496.hp2 HG01943.hp1 HG01993.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0106 others(1): Show a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0107	4	224	0.0179	-43	c.225 others(60): Show c.2250-450_2250-408delGACCCTGTCTCATATACGTATATATATA CGTATATATACATGA		AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	19/26						chr5	TogoVar
AP3M1_chr10_74115255_74155828	74116583	GGCTGAGG others(36): Show GGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAAATTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0100 a0001c0001t0008g0100	1	332	0.0030	-43	c.71 others(54): Show c.7184_*7226delGCAATTTCCGCCTCCCAGGTTCAAGCGATTCTCC TGCCTCAGC		AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding					3671		chr10	TogoVar
AP5Z1_chr7_4770623_4799397	4789169	GTCCCCGT others(36): Show GTCCCCGTCCCATCCCCTTCATCCCGGCAGGCCACGTCCCCCAA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01361.hp2 HG01074.hp2 HG01081.hp2 HG01361.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0012 a0004c0007t0012	a0004c0007t0012g0015 a0004c0007t0012g0015	3	338	0.0089	-43	c.170 others(60): Show c.1707+249_1707+291delCCACGTCCCCCAATCCCCGTCCCATCCC CTTCATCCCGGCAGG		AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr7	TogoVar
APAF1_chr12_98640290_98740433	98715226	CATGGTGT others(36): Show CATGGTGTGCATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03579.hp2 HG02258.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0215 a0001c0004t0007g0216 a0001c0004t0007g0215 a0001c0004t0007g0216	2	364	0.0055	-43	c.295 others(60): Show c.2959-198_2959-156delGGTGTGCATATATATATATATATATATA TATATATATATATAT		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	21/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
APBB2_chr4_40805027_41219542	40982194	GGAAAGAA others(36): Show GGAAAGAAAGAAAAGAAAGAAAAGAAAGGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02451.hp2 HG02717.hp1 others(1): Show HG01071.hp2 HG02451.hp2 HG02717.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0023 a0002c0001t0054 others(1): Show a0001c0003t0001 a0002c0001t0023 a0002c0001t0054 a0002c0001t0060	a0001c0003t0001g0029 a0002c0001t0023g0184 a0002c0001t0054g0066 others(1): Show a0001c0003t0001g0029 a0002c0001t0023g0184 a0002c0001t0054g0066 a0002c0001t0060g0158	4	128	0.0313	-43	c.835 others(62): Show c.835+31346_835+31388delTTTCTTTCTTTCTTTCCTTTCTTTTC TTTCTTTTCTTTCTTTC		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17						chr4	TogoVar
APBB2_chr4_40805027_41219542	41017595	GGAGTTTA others(36): Show GGAGTTTATAACAATAAATGTGAGCTCCACTCACCACTTTGTAC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG02965.hp1 others(3): Show HG02109.hp1 HG02647.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp2 NA18522.hp1	a0002 a0002	a0002c0001 a0002c0008 a0002c0001 a0002c0008	a0002c0001t0001 a0002c0001t0003 a0002c0001t0005 others(3): Show a0002c0001t0001 a0002c0001t0003 a0002c0001t0005 a0002c0001t0014 a0002c0001t0057 a0002c0008t0046	a0002c0001t0001g0075 a0002c0001t0003g0123 a0002c0001t0005g0152 others(3): Show a0002c0001t0001g0075 a0002c0001t0003g0123 a0002c0001t0005g0152 a0002c0001t0014g0063 a0002c0001t0057g0074 a0002c0008t0046g0090	6	190	0.0316	-43	c.20- others(58): Show c.20-3240_20-3198delGTACAAAGTGGTGAGTGGAGCTCACATTTA TTGTTATAAACTC		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	5/17						chr4	TogoVar

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