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
AFG3L2_chr18_12323944_12382227	12332907	A A	AAATATAT others(30): Show AAATATATATTATATATAACATATACTATATAATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(133): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18962.hp2 NA18969.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19077.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0003t0003 a0001c0005t0001 a0001c0007t0001 a0002c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 others(124): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0277 a0001c0001t0001g0323 a0001c0001t0001g0327 a0001c0001t0001g0345 a0001c0001t0004g0074 a0001c0001t0006g0206 a0001c0001t0006g0239 a0001c0001t0007g0020 a0001c0003t0003g0296 a0001c0005t0001g0173 a0001c0007t0001g0199 a0002c0004t0001g0015	136	364	0.3736	37	c.217 others(56): Show c.2176-3125_2176-3124insATATATTATATAGTATATGTTATATA TAATATATATT	AFG3L2	ENSG00000141385.12	transcript	ENST00000269143.8	protein_coding	16/16			chr18	TogoVar
AGAP6_chr10_49983406_50015499	49987239	G G	GTTTCCTG others(30): Show GTTTCCTGAAGGACTTCCCCCTCTGCCATGATTGTAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 NA18989.hp1 NA19009.hp1 others(2): Show HG00544.hp1 NA18989.hp1 NA19009.hp1 NA19076.hp2 NA19091.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0004 a0004c0004t0004g0039 a0004c0004t0004g0004 a0004c0004t0004g0039	5	404	0.0124	37	c.-14 others(48): Show c.-1477_-1476insTTTCCTGAAGGACTTCCCCCTCTGCCATGATTGT AAC	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding		1166		chr10	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01169.hp1 NA18979.hp2 HG00639.hp2 HG01169.hp1 NA18979.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0002 a0002c0002t0002 a0003c0003t0002	a0002c0002t0002g0084 a0002c0002t0002g0104 a0003c0003t0002g0121 a0002c0002t0002g0084 a0002c0002t0002g0104 a0003c0003t0002g0121	3	10	0.3000	37	c.848 others(52): Show c.848+373_848+374insATATATATATATATATATATTTTTTTTTTT TTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0001 a0013c0016t0001	a0013c0016t0001g0171 a0013c0016t0001g0171	1	8	0.1250	37	c.848 others(52): Show c.848+373_848+374insATATATATATATATATATATATATATATTT TTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGGF1_chr5_77025404_77070234	77042525	C C	CTGGCCGG others(30): Show CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0007 a0002c0003t0015g0007	1	436	0.0023	37	c.870 others(54): Show c.870+2820_870+2821insGGCTCCTCACTTCCCAGTAGGGGTGGCC GGGCAGAGG	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
AGGF1_chr5_77025404_77070234	77042526	T T	TGGCCGGG others(30): Show TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(198): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0007 a0002c0003 others(2): Show a0001c0001 a0001c0007 a0002c0003 a0002c0008 a0005c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0007t0004 a0002c0003t0002 a0002c0003t0014 a0002c0003t0015 a0002c0003t0016 a0002c0003t0019 a0002c0003t0025 a0002c0008t0002 a0005c0006t0004	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 others(154): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0250 a0001c0001t0001g0310 a0001c0001t0004g0004 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0098 a0001c0001t0004g0100 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0217 a0001c0001t0010g0005 a0001c0001t0010g0163 a0001c0001t0010g0165 a0001c0001t0010g0206 a0001c0001t0021g0099 a0001c0001t0023g0012 a0001c0001t0024g0221 a0001c0007t0004g0004 a0002c0003t0002g0001 a0002c0003t0002g0002 a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0009 a0002c0003t0002g0010 a0002c0003t0002g0017 a0002c0003t0002g0018 a0002c0003t0002g0019 a0002c0003t0002g0020 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0049 a0002c0003t0002g0050 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0055 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0060 a0002c0003t0002g0061 a0002c0003t0002g0063 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0068 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0002g0074 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0079 a0002c0003t0002g0080 a0002c0003t0002g0081 a0002c0003t0002g0082 a0002c0003t0002g0083 a0002c0003t0002g0084 a0002c0003t0002g0085 a0002c0003t0002g0086 a0002c0003t0002g0087 a0002c0003t0002g0089 a0002c0003t0002g0304 a0002c0003t0002g0306 a0002c0003t0002g0307 a0002c0003t0002g0308 a0002c0003t0014g0006 a0002c0003t0014g0046 a0002c0003t0015g0007 a0002c0003t0015g0072 a0002c0003t0016g0002 a0002c0003t0016g0062 a0002c0003t0019g0008 a0002c0003t0025g0073 a0002c0008t0002g0305 a0005c0006t0004g0113	201	436	0.4610	37	c.870 others(54): Show c.870+2820_870+2821insGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGG	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
AGGF1_chr5_77025404_77070234	77042531	G G	GGGCAGAG others(30): Show GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0218 a0006c0009t0001g0218	1	436	0.0023	37	c.870 others(54): Show c.870+2820_870+2821insGGCTCCTCACTTCCCAGTAGGGGCGGCC CGGCAGAGG	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
AGMO_chr7_15195317_15567015	15530991	A A	ATATATTC others(30): Show ATATATTCTATATATATTCTATATGTATATTCTATATG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	232	0.0043	37	c.409 others(56): Show c.409+13780_409+13781insCATATAGAATATACATATAGAATATA TATAGAATATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGPAT3_chr21_43860223_43992592	43897540	A A	ATCCCAGA others(30): Show ATCCCAGACGGGGCGGCCGGGCAGAGGGGCTCCTCACC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18979.hp2 NA18747.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0057 a0001c0001t0001g0058	2	299	0.0067	37	c.-11 others(56): Show c.-111-6410_-111-6409insCGGGGCGGCCGGGCAGAGGGGCTCCT CACCTCCCAGA	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43975309	A A	AGTGTGCT others(30): Show AGTGTGCTGGCGTGTGCTGGCGTGTGGTATGTTCTGGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0321 a0001c0001t0053g0321	1	340	0.0029	37	c.768 others(54): Show c.768-2726_768-2690dupGTGTGCTGGCGTGTGGTATGTTCTGGTG TGTGCTGGC	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
AGPS_chr2_177387773_177548834	177396942	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0247 a0001c0001t0011g0247	1	177	0.0056	37	c.260 others(54): Show c.260+3907_260+3908insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGT_chr1_230697523_230719122	230718722	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	234	0.0043	37	c.-46 others(48): Show c.-4668_-4667insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	AGT	ENSG00000135744.9	transcript	ENST00000366667.6	protein_coding		4601		chr1	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0164 a0003c0004t0004g0164	1	103	0.0097	37	c.-10 others(54): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT ATATTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	103	0.0097	37	c.-10 others(54): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT TTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	343420	A A	ATACCTTC others(30): Show ATACCTTCTCGGGGGTGACGGGAACACGGGACCCCGCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00438.hp2 others(96): Show HG00099.hp2 HG00140.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02257.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02602.hp2 HG02647.hp1 HG02698.hp1 HG02809.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA18747.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18960.hp1 NA18964.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18982.hp2 NA18983.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19058.hp1 NA19060.hp2 NA19064.hp2 NA19085.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0012 a0013	a0001c0001 a0001c0008 a0001c0009 others(9): Show a0001c0001 a0001c0008 a0001c0009 a0001c0017 a0002c0002 a0003c0004 a0004c0003 a0005c0005 a0008c0016 a0009c0020 a0012c0014 a0013c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 a0001c0001t0024 a0001c0001t0032 a0001c0001t0041 a0001c0001t0044 a0001c0001t0056 a0001c0001t0059 a0001c0001t0061 a0001c0001t0063 a0001c0008t0025 a0001c0009t0036 a0001c0017t0015 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0002c0002t0019 a0002c0002t0042 a0002c0002t0048 a0002c0002t0051 a0003c0004t0004 a0003c0004t0016 a0003c0004t0053 a0003c0004t0054 a0004c0003t0024 a0005c0005t0008 a0005c0005t0014 a0008c0016t0014 a0009c0020t0001 a0012c0014t0020 a0013c0018t0017	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0161 others(96): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0161 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0002g0094 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0196 a0001c0001t0002g0202 a0001c0001t0003g0041 a0001c0001t0003g0103 a0001c0001t0003g0163 a0001c0001t0003g0171 a0001c0001t0003g0174 a0001c0001t0003g0199 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0215 a0001c0001t0005g0179 a0001c0001t0005g0203 a0001c0001t0007g0030 a0001c0001t0009g0031 a0001c0001t0017g0035 a0001c0001t0017g0264 a0001c0001t0024g0032 a0001c0001t0032g0226 a0001c0001t0041g0201 a0001c0001t0044g0026 a0001c0001t0056g0175 a0001c0001t0059g0016 a0001c0001t0061g0182 a0001c0001t0063g0173 a0001c0008t0025g0158 a0001c0008t0025g0159 a0001c0009t0036g0033 a0001c0017t0015g0177 a0002c0002t0001g0043 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0146 a0002c0002t0001g0167 a0002c0002t0001g0172 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0200 a0002c0002t0001g0204 a0002c0002t0001g0257 a0002c0002t0006g0120 a0002c0002t0006g0144 a0002c0002t0006g0209 a0002c0002t0007g0028 a0002c0002t0010g0015 a0002c0002t0010g0145 a0002c0002t0010g0207 a0002c0002t0011g0022 a0002c0002t0011g0040 a0002c0002t0011g0162 a0002c0002t0011g0197 a0002c0002t0011g0214 a0002c0002t0019g0211 a0002c0002t0042g0166 a0002c0002t0048g0160 a0002c0002t0051g0194 a0003c0004t0004g0164 a0003c0004t0004g0169 a0003c0004t0004g0176 a0003c0004t0004g0185 a0003c0004t0004g0187 a0003c0004t0004g0205 a0003c0004t0004g0206 a0003c0004t0016g0195 a0003c0004t0053g0198 a0003c0004t0054g0165 a0004c0003t0024g0029 a0005c0005t0008g0049 a0005c0005t0008g0056 a0005c0005t0008g0057 a0005c0005t0008g0060 a0005c0005t0008g0061 a0005c0005t0014g0147 a0005c0005t0014g0180 a0008c0016t0014g0189 a0009c0020t0001g0170 a0012c0014t0020g0034 a0013c0018t0017g0265	99	243	0.4074	37	c.-10 others(52): Show c.-10-442_-10-406dupCCCCGCGTACCTTCTCGGGGGTGACGGGAA CACGGGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AIM2_chr1_159057484_159081766	159073813	C C	CAGGATCG others(30): Show CAGGATCGCCCGCGCCTCCGATCGAATCAGCAAGGGGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0157 a0003c0006t0002g0157	1	392	0.0026	37	c.-20 others(52): Show c.-20-295_-20-294insCCCCCTTGCTGATTCGATCGGAGGCGCGGG CGATCCT	AIM2	ENSG00000163568.16	transcript	ENST00000368130.9	protein_coding	1/5			chr1	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	47	0.0213	37	c.135 others(52): Show c.135+477_135+478insAAAAAAAAAAATATATATATATATATATAT ATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	47	0.0213	37	c.135 others(52): Show c.135+477_135+478insAAAAAAAAATATATATATATATATATATAT ATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA19009.hp1 HG03927.hp2 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0107 a0001c0002t0001g0108	2	48	0.0417	37	c.135 others(52): Show c.135+477_135+478insAAAAAAATATATATATATATATATATATAT ATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	47	0.0213	37	c.135 others(52): Show c.135+477_135+478insAAAAATATATATATATATATATATATATAT ATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AK5_chr1_77277019_77564966	77367673	A A	ACGTTATA others(30): Show ACGTTATATGTTATATATATGTTATATATATGTTATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01099.hp2 HG01192.hp1 others(4): Show HG00323.hp1 HG01099.hp2 HG01192.hp1 HG01257.hp2 HG03490.hp2 HG03492.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0187 others(4): Show a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0187 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0193	7	280	0.0250	37	c.891 others(56): Show c.891+27105_891+27106insCGTTATATGTTATATATATGTTATAT ATATGTTATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13			chr1	TogoVar
AK5_chr1_77277019_77564966	77367838	T T	TATATATT others(30): Show TATATATTATATATAATATATGTTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01106.hp2 HG01496.hp1 others(5): Show HG00609.hp1 HG01106.hp2 HG01496.hp1 HG02145.hp1 HG03239.hp1 HG04204.hp2 NA18966.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0002c0002t0002	a0001c0001t0001g0077 a0001c0001t0003g0152 a0001c0001t0003g0160 others(5): Show a0001c0001t0001g0077 a0001c0001t0003g0152 a0001c0001t0003g0160 a0001c0001t0003g0229 a0001c0001t0005g0231 a0001c0001t0006g0227 a0001c0001t0006g0228 a0002c0002t0002g0265	8	216	0.0370	37	c.891 others(56): Show c.891+27276_891+27277insTATATATAATATATGTTATATATTAT ATATAATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK7_chr14_96387128_96494427	96418322	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18955.hp1 NA18956.hp1 others(6): Show HG02074.hp2 NA18955.hp1 NA18956.hp1 NA18985.hp2 NA19011.hp2 NA19055.hp2 NA19066.hp2 NA19081.hp1 NA19090.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0020 a0001c0001 a0013c0020	a0001c0001t0001 a0001c0001t0002 a0013c0020t0001 a0001c0001t0001 a0001c0001t0002 a0013c0020t0001	a0001c0001t0001g0041 a0001c0001t0001g0061 a0001c0001t0001g0106 others(6): Show a0001c0001t0001g0041 a0001c0001t0001g0061 a0001c0001t0001g0106 a0001c0001t0001g0207 a0001c0001t0001g0214 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0002g0196 a0013c0020t0001g0192	9	39	0.2308	37	c.499 others(54): Show c.499-2485_499-2484insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AK8_chr9_132720578_132883284	132778969	C C	CAGAAGAA others(30): Show CAGAAGAACAGGCTACCTTCCCCACTTCCAAGCCAATG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA19030.hp2 NA18965.hp1 NA19030.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0001 a0009c0008t0001 a0001c0001t0001 a0009c0008t0001	a0001c0001t0001g0080 a0009c0008t0001g0005 a0001c0001t0001g0080 a0009c0008t0001g0005	2	264	0.0076	37	c.112 others(58): Show c.1121+13628_1121+13664dupCATTGGCTTGGAAGTGGGGAAGGT AGCCTGTTCTTCT	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	11/12			chr9	TogoVar
AKAP13_chr15_85375603_85754355	85442498	T T	TTATATTA others(30): Show TTATATTATATATAATATATATTATATTATATATAATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA19043.hp2 HG02818.hp1 NA19043.hp2	a0018 a0028 a0018 a0028	a0018c0026 a0028c0032 a0018c0026 a0028c0032	a0018c0026t0026 a0028c0032t0063 a0018c0026t0026 a0028c0032t0063	a0018c0026t0026g0228 a0028c0032t0063g0213 a0018c0026t0026g0228 a0028c0032t0063g0213	2	312	0.0064	37	c.-11 others(56): Show c.-11-43198_-11-43162dupATATATATTATATTATATATAATATA TATTATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85504503	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0220 a0002c0001t0011g0220	1	11	0.0909	37	c.34- others(54): Show c.34-16893_34-16892insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP6_chr14_32324298_32842684	32615167	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01981.hp2 NA18942.hp2 HG01175.hp2 HG01981.hp2 NA18942.hp2	a0001 a0008 a0011 a0001 a0008 a0011	a0001c0001 a0008c0014 a0011c0016 a0001c0001 a0008c0014 a0011c0016	a0001c0001t0048 a0008c0014t0002 a0011c0016t0002 a0001c0001t0048 a0008c0014t0002 a0011c0016t0002	a0001c0001t0048g0015 a0008c0014t0002g0018 a0011c0016t0002g0088 a0001c0001t0048g0015 a0008c0014t0002g0018 a0011c0016t0002g0088	3	35	0.0857	37	c.273 others(58): Show c.2730+14394_2730+14395insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKT2_chr19_40225317_40290345	40228679	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATCTATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0275	1	270	0.0037	37	c.51 others(48): Show c.5192_*5193insAGATATAGATATATATATATATATATATATATTT TTT	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		1637		chr19	TogoVar
AKT2_chr19_40225317_40290345	40228679	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATCTATATCTATATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0303 a0001c0001t0003g0303	1	270	0.0037	37	c.51 others(48): Show c.5192_*5193insATAGATATAGATATAGATATATATATATATATTT TTT	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		1637		chr19	TogoVar
AKT2_chr19_40225317_40290345	40228679	A A	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATCTATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0326 a0001c0001t0003g0326	1	270	0.0037	37	c.51 others(48): Show c.5192_*5193insAGATATAGATATATATATATATATATATATATAT TTT	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		1637		chr19	TogoVar
AKT2_chr19_40225317_40290345	40228679	A A	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATCTATATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0295 a0001c0001t0003g0295	1	270	0.0037	37	c.51 others(48): Show c.5192_*5193insATAGATATAGATATATATATATATATATATATAT TTT	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		1637		chr19	TogoVar
AKT2_chr19_40225317_40290345	40228679	A A	AAATATAT others(30): Show AAATATATATATATATATATATATATATATCTATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03540.hp1 HG02723.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0324 a0001c0001t0003g0325	2	271	0.0074	37	c.51 others(48): Show c.5192_*5193insAGATATAGATATATATATATATATATATATATAT ATT	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		1637		chr19	TogoVar
AKT2_chr19_40225317_40290345	40228679	A A	AAATATCT others(30): Show AAATATCTATATATATATATATATATATATATATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02970.hp1 others(1): Show HG01891.hp2 HG02280.hp2 HG02970.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0290 others(1): Show a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0291	4	273	0.0147	37	c.51 others(48): Show c.5192_*5193insATAGATATATATATATATATATATATATATAGAT ATT	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		1637		chr19	TogoVar
ALDH16A1_chr19_49448225_49476050	49463426	G G	GGACTCCT others(30): Show GGACTCCTGGGTCTGAGGGAGGAGAGGCTGGGGGTCCA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0154 a0002c0002t0002g0154	1	340	0.0029	37	c.109 others(54): Show c.1099-404_1099-368dupAGGCTGGGGGTCCAGACTCCTGGGTCTG AGGGAGGAG	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ALDH1A2_chr15_57948429_58070711	58054358	G G	GCAGTTTC others(30): Show GCAGTTTCTTTAGAGAGGATTTTTCAATCATTTATAAT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	324	0.0031	37	c.117 others(56): Show c.117+11139_117+11175dupATTATAAATGATTGAAAAATCCTCTC TAAAGAAACTG	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	1/12			chr15	TogoVar
ALLC_chr2_3653200_3707671	3690283	T T	TCCCCCTC others(30): Show TCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA19082.hp1 HG04184.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0099 a0001c0001t0001g0002 a0001c0001t0001g0099	2	236	0.0085	37	c.512 others(54): Show c.512-5417_512-5416insCTCCCCTCCCCCCTCCCCTCCCCCCTCC CCTCCCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690318	C C	CCCCTCCC others(30): Show CCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCCCCT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0004 a0003c0010t0004	a0003c0010t0004g0228 a0003c0010t0004g0228	1	250	0.0040	37	c.512 others(54): Show c.512-5396_512-5395insTCCCCCCTCCCCTCCCCCCTCCCCCTCC CCCCCTCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690397	C C	CCCCCTCC others(30): Show CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0157 a0002c0002t0002g0157	1	272	0.0037	37	c.512 others(54): Show c.512-5317_512-5316insCTCCCCTCCCCTCCCCTCCCCCTCCCCC TCCCCTCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
AMBRA1_chr11_46391414_46599023	46583158	G G	GAAGGCGC others(30): Show GAAGGCGCACAAAACCCCTACACAGATTTACTCTAAGC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	158	0.0063	37	c.-12 others(58): Show c.-121+10669_-121+10670insGCTTAGAGTAAATCTGTGTAGGGG TTTTGTGCGCCTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	67	0.0149	37	c.-12 others(56): Show c.-121+8132_-121+8133insATATATATATATATATATATATATAT ATATATATATA	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMDHD1_chr12_95938331_95973720	95947680	T T	TGCCCGGC others(30): Show TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp1 NA19030.hp2 HG01081.hp2 HG02055.hp1 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0015 a0002c0003t0009 a0002c0003t0015	a0002c0003t0009g0080 a0002c0003t0009g0081 a0002c0003t0015g0078 a0002c0003t0009g0080 a0002c0003t0009g0081 a0002c0003t0015g0078	3	402	0.0075	37	c.137 others(54): Show c.137+4153_137+4154insGCCCCTACTGGGAAGTGAGGAGCCCCTC AGCCCGGCC	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMPH_chr7_38378704_38636373	38610327	A A	AGAGAGAG others(30): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0031 a0001c0001t0006g0031	1	228	0.0044	37	c.69+ others(54): Show c.69+20955_69+20956insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTC	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANAPC1_chr2_111762640_111889193	111832937	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0182 a0001c0004t0003g0182	1	115	0.0087	37	c.247 others(54): Show c.2476+282_2476+283insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	20/47			chr2	TogoVar
ANAPC7_chr12_110367900_110408708	110406522	T T	TGTTGTGC others(30): Show TGTTGTGCTGGGAAGAAGATTCAAGAAGCTTAGAGTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	296	0.0034	37	c.-28 others(48): Show c.-2896_-2895insGAACTCTAAGCTTCTTGAATCTTCTTCCCAGCAC AAC	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding		2815		chr12	TogoVar
ANGPT1_chr8_107244482_107502918	107370338	G G	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03927.hp2 NA18952.hp2 others(2): Show HG02735.hp1 HG03927.hp2 NA18952.hp2 NA18961.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0001 a0001c0001t0002 a0001c0001t0022	a0001c0001t0001g0004 a0001c0001t0001g0097 a0001c0001t0001g0229 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0097 a0001c0001t0001g0229 a0001c0001t0002g0123 a0001c0001t0022g0035	5	229	0.0218	37	c.298 others(56): Show c.298-23242_298-23241insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370340	A A	AAGAAAGA others(30): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	85	0.0118	37	c.298 others(56): Show c.298-23244_298-23243insCTTTTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370341	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	288	0.0035	37	c.298 others(56): Show c.298-23245_298-23244insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370407	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02257.hp1 HG00738.hp2 HG02257.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0015 a0001c0001t0003 a0002c0002t0015	a0001c0001t0003g0228 a0002c0002t0015g0278 a0001c0001t0003g0228 a0002c0002t0015g0278	2	88	0.0227	37	c.298 others(56): Show c.298-23311_298-23310insCTTCCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPTL5_chr11_101885674_101921522	101889442	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03516.hp1 HG02818.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0260 a0001c0001t0001g0261	2	352	0.0057	37	c.18 others(48): Show c.1836_*1837insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding		1231		chr11	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0293 a0001c0003t0002g0293	1	121	0.0083	37	c.486 others(54): Show c.486+2287_486+2288insAAAAAAAAATATATATATATATATATAT ATATATATA	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar

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