Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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
LRBA_chr4_150259435_151020284	150658558	CCTCTCCC others(87): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTGCCTCTCCCTCTCCCTCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	178	0.0056	-94	c.592 others(115): Show c.5921+24899_5921+24992delAGAGGGAGAGGGAGAGGGAGAGGC AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAG	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRRK2_chr12_40219997_40374285	40247590	GTATATAA others(87): Show GTATATAAATATACATATTTATACACAGATGTATATAAATATACATATTT ATACACAGATGTATATAAATATACAAATATAAATATATACATTTA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp1 HG02895.hp1 others(4): Show HG02257.hp1 HG02630.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0011 a0001c0002 a0003c0011	a0001c0002t0007 a0001c0002t0011 a0003c0011t0006 a0001c0002t0007 a0001c0002t0011 a0003c0011t0006	a0001c0002t0007g0315 a0001c0002t0007g0319 a0001c0002t0007g0321 others(4): Show a0001c0002t0007g0315 a0001c0002t0007g0319 a0001c0002t0007g0321 a0001c0002t0007g0322 a0001c0002t0011g0316 a0003c0011t0006g0324 a0003c0011t0006g0325	7	380	0.0184	-94	c.839 others(111): Show c.839-2191_839-2098delTATTTATACACAGATGTATATAAATATA CAAATATAAATATATACATTTATATATAAATATACATATTTATACACAGA TGTATATAAATATACA	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50		INFO_REALIGN_3_PRIME	chr12	TogoVar
LSP1_chr11_1848084_1897263	1871783	TGCTGGTA others(87): Show TGCTGGTAGAGTTGGGGTCTGTCCGGCTGGCGTGGGCACTTTTGGGACGG GGTGTGTGTGGCAGGCAGGCCTGGGCTGTAGTCACCCTGGCGCAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp2 HG03130.hp2 others(1): Show HG02451.hp2 HG02886.hp2 HG03130.hp2 HG03540.hp2	a0003 a0007 a0003 a0007	a0003c0004 a0007c0014 a0003c0004 a0007c0014	a0003c0004t0001 a0003c0004t0003 a0007c0014t0003 a0003c0004t0001 a0003c0004t0003 a0007c0014t0003	a0003c0004t0001g0202 a0003c0004t0003g0194 a0003c0004t0003g0203 others(1): Show a0003c0004t0001g0202 a0003c0004t0003g0194 a0003c0004t0003g0203 a0007c0014t0003g0206	4	358	0.0112	-94	c.54- others(109): Show c.54-8281_54-8188delCGGCTGGCGTGGGCACTTTTGGGACGGGGT GTGTGTGGCAGGCAGGCCTGGGCTGTAGTCACCCTGGCGCACGCTGGTAG AGTTGGGGTCTGTC	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
LSP1_chr11_1848084_1897263	1872112	GGGGGTGT others(87): Show GGGGGTGTGTGTGGCGGGCAGGCCTGGGCTGCAGTCACCCTGGTGCATGC TGGTAGAGTTGGGGTCTGTCCGGCTGGCGTGGGCACCTTTGGGAC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp2 HG03130.hp2 others(1): Show HG02451.hp2 HG02886.hp2 HG03130.hp2 HG03540.hp2	a0003 a0007 a0003 a0007	a0003c0004 a0007c0014 a0003c0004 a0007c0014	a0003c0004t0001 a0003c0004t0003 a0007c0014t0003 a0003c0004t0001 a0003c0004t0003 a0007c0014t0003	a0003c0004t0001g0202 a0003c0004t0003g0194 a0003c0004t0003g0203 others(1): Show a0003c0004t0001g0202 a0003c0004t0003g0194 a0003c0004t0003g0203 a0007c0014t0003g0206	4	358	0.0112	-94	c.54- others(109): Show c.54-7961_54-7868delCGGGCAGGCCTGGGCTGCAGTCACCCTGGT GCATGCTGGTAGAGTTGGGGTCTGTCCGGCTGGCGTGGGCACCTTTGGGA CGGGGTGTGTGTGG	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
LSP1_chr11_1848084_1897263	1872502	GGGCAGGC others(87): Show GGGCAGGCCTGGGCTGTAGTCACCCTGGTGCACGCTGGTAGAGTTGGGGT CTGTCTGGCTGGCGTGGGCACTTTTGGGAGGGGGTGTGTGTGGCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG01070.hp1 others(5): Show HG00280.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01192.hp2 HG02559.hp1 HG02723.hp1 HG02976.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0027 a0002c0001t0002g0042 a0002c0001t0002g0166 others(4): Show a0002c0001t0002g0027 a0002c0001t0002g0042 a0002c0001t0002g0166 a0002c0001t0002g0182 a0002c0001t0002g0183 a0002c0001t0002g0184 a0002c0001t0002g0187	8	358	0.0223	-94	c.54- others(109): Show c.54-7569_54-7476delTAGTCACCCTGGTGCACGCTGGTAGAGTTG GGGTCTGTCTGGCTGGCGTGGGCACTTTTGGGAGGGGGTGTGTGTGGCAG GCAGGCCTGGGCTG	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	25030901	ATATAATA others(87): Show ATATAATATATATTGTATTATATATATATAATATATATTATATATATTAT ATATATAATACAATATATATTATATATATATAATACAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02165.hp2 HG02523.hp2 others(5): Show HG02080.hp1 HG02165.hp2 HG02523.hp2 HG02717.hp2 HG02965.hp1 HG03471.hp1 NA18906.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0003t0015	a0001c0001t0004g0060 a0001c0001t0006g0039 a0001c0001t0008g0007 others(5): Show a0001c0001t0004g0060 a0001c0001t0006g0039 a0001c0001t0008g0007 a0001c0001t0008g0012 a0001c0001t0008g0015 a0001c0001t0008g0103 a0001c0003t0015g0069 a0001c0003t0015g0091	8	116	0.0690	-94	c.766 others(113): Show c.766-19132_766-19039delATATATATTGTATTATATATATATAA TATATATTATATATATTATATATATAATACAATATATATTATATATATAT AATACAATATATATTATA	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	25030919	TATATATA others(87): Show TATATATATATAATATATATTATATATATTATATATATAATACAATATAT ATTATATATATATAATACAATATATATTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0079 a0002c0002t0010g0079	1	113	0.0088	-94	c.766 others(113): Show c.766-19118_766-19025delATATATATATAATATATATTATATAT ATTATATATATAATACAATATATATTATATATATATAATACAATATATAT TATATATATATATATATA	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11			chr11	TogoVar
LYNX1_chr8_142766202_142782202	142777378	ACCCGCCT others(87): Show ACCCGCCTCCTGGGCTACTCACCAAGCCGCGCTCACTGCAGGCCCCGCCC CTGCCCCGCCTCCTGGGCACCCGCCGAGCCGAGTTCACCGCAGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG02109.hp1 HG02135.hp1 others(4): Show HG01361.hp2 HG02109.hp1 HG02135.hp1 HG02293.hp2 HG03041.hp1 NA19009.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0016 a0001c0001t0036	a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0002g0006 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0002g0006 a0001c0001t0004g0005 a0001c0001t0009g0011 a0001c0001t0016g0082 a0001c0001t0036g0055	7	442	0.0158	-94	c.-53 others(103): Show c.-531_-438delGCCTGCGGTGAACTCGGCTCGGCGGGTGCCCAGGAG GCGGGGCAGGGGCGGGGCCTGCAGTGAGCGCGGCTTGGTGAGTAGCCCAG GAGGCGGG	LYNX1	ENSG00000180155.20	transcript	ENST00000652477.1	protein_coding		177		chr8	TogoVar
MAEA_chr4_1284891_1345137	1324644	GAGTTGAG others(87): Show GAGTTGAGATTGGATGCCTGGTGGATGAGTGTGTCTGGTGTTGGATGAAG TTGAGATTGGATGCCTGGTGGATGAGTGTGTCTGGTGTTGGATGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp1 others(145): Show HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18957.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19067.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0015 a0004c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0005t0001 a0001c0007t0005 a0001c0015t0001 a0004c0012t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(145): Show a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0280 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0005g0013 a0001c0001t0006g0244 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0012g0180 a0001c0001t0013g0154 a0001c0001t0014g0279 a0001c0001t0016g0215 a0001c0002t0001g0165 a0001c0005t0001g0257 a0001c0005t0001g0258 a0001c0007t0005g0012 a0001c0015t0001g0212 a0004c0012t0001g0260	148	386	0.3834	-94	c.579 others(111): Show c.579+2187_579+2280delGAAGTTGAGATTGGATGCCTGGTGGATG AGTGTGTCTGGTGTTGGATGAAGTTGAGATTGGATGCCTGGTGGATGAGT GTGTCTGGTGTTGGAT	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MALRD1_chr10_19043801_19739478	19171954	TATATATC others(87): Show TATATATCACATATATGTGATATATATCATATAATATATGTATATATCAC ATATATGTGATATATATCATATATCACATATATGTGATATATATC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00558.hp2 others(55): Show HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00741.hp1 HG01070.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01192.hp1 HG01358.hp1 HG01358.hp2 HG01884.hp2 HG01975.hp2 HG01993.hp1 HG02055.hp2 HG02074.hp1 HG02132.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02818.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03704.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18988.hp2 NA18998.hp2 NA19043.hp1 NA19086.hp2 NA19088.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(39): Show a0001 a0002 a0003 a0004 a0006 a0008 a0015 a0017 a0018 a0020 a0021 a0023 a0025 a0026 a0027 a0032 a0033 a0036 a0038 a0042 a0043 a0045 a0049 a0050 a0051 a0055 a0057 a0058 a0060 a0061 a0062 a0063 a0064 a0065 a0067 a0069 a0072 a0075 a0076 a0077 a0080 a0083	a0001c0003 a0001c0009 a0001c0013 others(46): Show a0001c0003 a0001c0009 a0001c0013 a0001c0105 a0002c0004 a0003c0001 a0003c0024 a0004c0002 a0004c0096 a0006c0020 a0006c0039 a0008c0006 a0015c0018 a0017c0038 a0018c0069 a0020c0089 a0021c0014 a0023c0094 a0023c0095 a0025c0098 a0026c0082 a0027c0037 a0032c0099 a0033c0101 a0036c0049 a0038c0051 a0042c0097 a0043c0022 a0045c0021 a0049c0091 a0050c0075 a0051c0055 a0055c0036 a0057c0035 a0058c0050 a0060c0063 a0061c0048 a0062c0085 a0063c0045 a0064c0071 a0065c0081 a0067c0080 a0069c0061 a0072c0078 a0075c0100 a0076c0034 a0077c0083 a0080c0093 a0083c0033	a0001c0003t0001 a0001c0009t0001 a0001c0013t0002 others(47): Show a0001c0003t0001 a0001c0009t0001 a0001c0013t0002 a0001c0105t0002 a0002c0004t0001 a0003c0001t0001 a0003c0001t0002 a0003c0024t0001 a0004c0002t0001 a0004c0096t0001 a0006c0020t0001 a0006c0039t0001 a0008c0006t0001 a0015c0018t0001 a0017c0038t0001 a0018c0069t0002 a0020c0089t0001 a0021c0014t0001 a0023c0094t0001 a0023c0095t0001 a0025c0098t0001 a0026c0082t0001 a0027c0037t0001 a0032c0099t0001 a0033c0101t0002 a0036c0049t0001 a0038c0051t0002 a0042c0097t0001 a0043c0022t0002 a0045c0021t0002 a0049c0091t0001 a0050c0075t0001 a0051c0055t0001 a0055c0036t0001 a0057c0035t0001 a0058c0050t0002 a0060c0063t0001 a0061c0048t0002 a0062c0085t0001 a0063c0045t0002 a0064c0071t0001 a0065c0081t0001 a0067c0080t0001 a0069c0061t0001 a0072c0078t0001 a0075c0100t0001 a0076c0034t0003 a0077c0083t0002 a0080c0093t0001 a0083c0033t0001	a0001c0003t0001g0109 a0001c0009t0001g0061 a0001c0013t0002g0073 others(55): Show a0001c0003t0001g0109 a0001c0009t0001g0061 a0001c0013t0002g0073 a0001c0105t0002g0090 a0002c0004t0001g0054 a0002c0004t0001g0057 a0002c0004t0001g0129 a0003c0001t0001g0102 a0003c0001t0002g0091 a0003c0024t0001g0095 a0004c0002t0001g0029 a0004c0002t0001g0030 a0004c0002t0001g0046 a0004c0002t0001g0049 a0004c0002t0001g0119 a0004c0002t0001g0143 a0004c0096t0001g0098 a0006c0020t0001g0053 a0006c0039t0001g0134 a0008c0006t0001g0094 a0015c0018t0001g0048 a0015c0018t0001g0113 a0017c0038t0001g0120 a0018c0069t0002g0082 a0020c0089t0001g0017 a0021c0014t0001g0096 a0023c0094t0001g0104 a0023c0095t0001g0040 a0025c0098t0001g0016 a0026c0082t0001g0052 a0027c0037t0001g0121 a0032c0099t0001g0047 a0033c0101t0002g0020 a0036c0049t0001g0022 a0038c0051t0002g0065 a0042c0097t0001g0007 a0043c0022t0002g0093 a0045c0021t0002g0092 a0049c0091t0001g0105 a0050c0075t0001g0058 a0051c0055t0001g0108 a0055c0036t0001g0006 a0057c0035t0001g0126 a0058c0050t0002g0019 a0060c0063t0001g0012 a0061c0048t0002g0087 a0062c0085t0001g0013 a0063c0045t0002g0084 a0064c0071t0001g0139 a0065c0081t0001g0044 a0067c0080t0001g0043 a0069c0061t0001g0152 a0072c0078t0001g0099 a0075c0100t0001g0042 a0076c0034t0003g0112 a0077c0083t0002g0074 a0080c0093t0001g0004 a0083c0033t0001g0103	58	93	0.6237	-94	c.183 others(113): Show c.1831-3221_1831-3128delATATATGTATATATCACATATATGTG ATATATATCATATATCACATATATGTGATATATATCATATATCACATATA TGTGATATATATCATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	13/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAP2K2_chr19_4085321_4129122	4120853	TCTGTGCA others(87): Show TCTGTGCAGAGAATGAGGAACGGGTCCCCGTGTCTGGCTGTGCCCGTGTT GACTTGCACACATTGGCATCAAGAGTCTTCATCTGGGTCACAGAA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	328	0.0030	-94	c.92+ others(109): Show c.92+2837_92+2930delTTCTGTGACCCAGATGAAGACTCTTGATGC CAATGTGTGCAAGTCAACACGGGCACAGCCAGACACGGGGACCCGTTCCT CATTCTCTGCACAG	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP3K13_chr3_185358136_185494094	185455657	GATATATA others(87): Show GATATATATATGATATATATATGAGATATATATATGATATATATATGAGA TATATATGAGATATATATGATATATATATGAGATATATATATGAT	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	265	0.0038	-94	c.127 others(113): Show c.1278+4271_1278+4364delATGATATATATATGAGATATATATAT GATATATATATGAGATATATATGAGATATATATGATATATATATGAGATA TATATATGATATATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP7D2_chrX_20001713_20121907	20094487	CATATATA others(87): Show CATATATATATATATATATATATATATATGTATATATATATATATATATA TATATGTATATATATATATATATATATATATACATATATATGTAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp1 HG02622.hp2 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0191 a0002c0002t0001g0143 a0002c0002t0001g0191	2	179	0.0112	-94	c.130 others(113): Show c.130+22169_130+22262delATACATATATATGTATATATATATAT ATATATATATATACATATATATATATATATATATATATACATATATATAT ATATATATATATATATAT	MAP7D2	ENSG00000184368.16	transcript	ENST00000379643.10	protein_coding	1/16			chrX	TogoVar
MAPK9_chr5_180228143_180297083	180296761	ACACACAC others(87): Show ACACACACACACACAAGGAAGTACAACACACACGTAAGAAAGTACACACA CGGAAGTACTTACCCCCCCCCCCACACACACACGGAAGTACTTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG03098.hp1 HG03195.hp2 others(1): Show HG02818.hp2 HG03098.hp1 HG03195.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0036 a0001c0001t0001 a0001c0001t0002 a0001c0001t0036	a0001c0001t0001g0250 a0001c0001t0002g0110 a0001c0001t0002g0114 others(1): Show a0001c0001t0001g0250 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0036g0137	4	370	0.0108	-94	c.-50 others(105): Show c.-5055_-4962delGTAAGTACTTCCGTGTGTGTGTGGGGGGGGGGGT AAGTACTTCCGTGTGTGTACTTTCTTACGTGTGTGTTGTACTTCCTTGTG TGTGTGTGTG	MAPK9	ENSG00000050748.18	transcript	ENST00000452135.7	protein_coding		4679		chr5	TogoVar
MAPK9_chr5_180228143_180297083	180296861	ACACACAC others(87): Show ACACACACACACACACACACAAGGAAGTACAACACACACGTAAGGAAGTA CACACACGGAAGTACCCCCCCACACACACACACGGAAGTACTTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp2 others(52): Show HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG01243.hp1 HG01516.hp2 HG02056.hp2 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02300.hp1 HG02523.hp1 HG02738.hp1 HG03130.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18945.hp1 NA18945.hp2 NA18953.hp1 NA18970.hp2 NA18971.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18991.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19009.hp1 NA19010.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0040 a0001c0001t0042	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0016 others(48): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0259 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0004g0320 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0007g0219 a0001c0001t0007g0220 a0001c0001t0007g0221 a0001c0001t0008g0046 a0001c0001t0012g0206 a0001c0001t0017g0154 a0001c0001t0017g0155 a0001c0001t0020g0228 a0001c0001t0020g0229 a0001c0001t0021g0262 a0001c0001t0026g0293 a0001c0001t0040g0208 a0001c0001t0042g0338	55	370	0.1486	-94	c.-51 others(105): Show c.-5155_-5062delGTAAGTACTTCCGTGTGTGTGTGTGGGGGGGTAC TTCCGTGTGTGTACTTCCTTACGTGTGTGTTGTACTTCCTTGTGTGTGTG TGTGTGTGTG	MAPK9	ENSG00000050748.18	transcript	ENST00000452135.7	protein_coding		4779		chr5	TogoVar
ME3_chr11_86436108_86677616	86494626	ACATCCAG others(87): Show ACATCCAGGAGGGAGAGGTGATTCTAGAGGCCTAAAGCACCAGAAGGAGA AGCAGACGCTTTGAGTAGATGTGACACGCGACTCATTAAAGTGAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03225.hp1 HG03486.hp1 others(5): Show HG01884.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG06807.hp2 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0178 others(5): Show a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0282 a0001c0001t0002g0291 a0001c0001t0002g0292	8	318	0.0252	-94	c.705 others(111): Show c.705+3243_705+3336delGTCACTTTAATGAGTCGCGTGTCACATC TACTCAAAGCGTCTGCTTCTCCTTCTGGTGCTTTAGGCCTCTAGAATCAC CTCTCCCTCCTGGATG	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	6/14			chr11	TogoVar
MELTF_chr3_196996740_197034817	197000591	ACCGTGTG others(87): Show ACCGTGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCC ATGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01952.hp2 HG02129.hp2 others(4): Show HG00423.hp2 HG01952.hp2 HG02129.hp2 NA18999.hp2 NA19063.hp1 NA19079.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0025 a0001c0002t0009 a0001c0001t0001 a0001c0001t0025 a0001c0002t0009	a0001c0001t0001g0011 a0001c0001t0001g0290 a0001c0001t0025g0021 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0290 a0001c0001t0025g0021 a0001c0002t0009g0224	7	395	0.0177	-94	c.26 others(105): Show c.2687_*2780delCATAGAGTCTAAGACACAAAACACTCAGCACAGT GCTTGGCACATGGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCT TGGCACACGG	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		1148		chr3	TogoVar
MELTF_chr3_196996740_197034817	197000641	ATGTGCCA others(87): Show ATGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCGTG TGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0103 a0001c0001t0008g0103	1	211	0.0047	-94	c.26 others(105): Show c.2637_*2730delCGGCATAGAGTCTAAGACACAAAACACTCAGCAC AGTGCTTGGCACACGGCATAGAGTCTAAGACACAAAACACTCAGCACAGT GCTTGGCACA	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		1098		chr3	TogoVar
METAP1D_chr2_171994953_172087430	172042578	TATGTGTG others(87): Show TATGTGTGTATGTGTACATGTGCACATATATACATATATGTGTGTATGTG TACACATATACATATGTGTGTATGTGTATATGTGTACACATATAC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0352 a0001c0001t0002g0352	1	354	0.0028	-94	c.41- others(111): Show c.41-18919_41-18826delATGTGTGTATGTGTACATGTGCACATAT ATACATATATGTGTGTATGTGTACACATATACATATGTGTGTATGTGTAT ATGTGTACACATATAC	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9			chr2	TogoVar
METTL24_chr6_110238940_110363349	110302555	GTATATAT others(87): Show GTATATATACACACATACACACACATATGTGTATATATACACATATACAC ACACATATGTGTATATATATACACATATACACACACATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG01106.hp1 others(9): Show HG00280.hp2 HG00621.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01346.hp2 HG02559.hp1 HG02809.hp1 HG03225.hp2 NA18906.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(5): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0026 a0001c0001t0030 a0001c0001t0034 a0001c0002t0011	a0001c0001t0004g0179 a0001c0001t0007g0165 a0001c0001t0008g0136 others(9): Show a0001c0001t0004g0179 a0001c0001t0007g0165 a0001c0001t0008g0136 a0001c0001t0011g0237 a0001c0001t0011g0245 a0001c0001t0011g0246 a0001c0001t0026g0177 a0001c0001t0030g0173 a0001c0001t0034g0180 a0001c0002t0011g0053 a0001c0002t0011g0054 a0001c0002t0011g0055	12	266	0.0451	-94	c.558 others(111): Show c.558-3499_558-3406delTACACATATGTGTGTGTATATGTGTATA TATATACACATATGTGTGTGTATATGTGTATATATACACATATGTGTGTG TATGTGTGTATATATA	METTL24	ENSG00000053328.9	transcript	ENST00000338882.5	protein_coding	3/4			chr6	TogoVar
MIS18BP1_chr14_45198190_45258202	45256048	GAATATTC others(87): Show GAATATTCCCAGGACCGTGAAAAGTTGTAGCAGTACTTTTGGAGAAAGTA GAAAAACGATGTTTCCTCAAGGCCAAGGGTTCTCAAGCAGGAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	244	0.0041	-94	c.-31 others(105): Show c.-3199_-3106delTTTTCCTGCTTGAGAACCCTTGGCCTTGAGGAAA CATCGTTTTTCTACTTTCTCCAAAAGTACTGCTACAACTTTTCACGGTCC TGGGAATATT	MIS18BP1	ENSG00000129534.14	transcript	ENST00000310806.9	protein_coding		2847		chr14	TogoVar
MLPH_chr2_237482251_237560322	237544524	GGGGGGAC others(87): Show GGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATT GTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGT	G G	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0243 a0001c0022t0001g0243	1	265	0.0038	-94	c.153 others(113): Show c.1539+1868_1539+1961delGGGACAGTTGTTGAGTTGGGGGACAC TTTAGTGTTGGGGGGGACATTGTTTATTGGGGGCATAGTGGTGTGTGGTT GTCAGTGTGTGGTGGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRM3_chr17_777353_797509	778498	TCTTAATT others(87): Show TCTTAATTAATTCCACTGCTTTATACTCATGAGAGTGCAGAGAAACAGTA TGTGTTCCCGACGCTCCTGAAGTTGCCTCCCTAATTTACTGCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	438	0.0023	-94	c.-38 others(105): Show c.-3880_-3787delCTTAATTAATTCCACTGCTTTATACTCATGAGAG TGCAGAGAAACAGTATGTGTTCCCGACGCTCCTGAAGTTGCCTCCCTAAT TTACTGCCTC	MRM3	ENSG00000171861.11	transcript	ENST00000304478.9	protein_coding		3854		chr17	TogoVar
MROH2A_chr2_233773330_233838418	233787724	ATCATATA others(87): Show ATCATATATACATATATATTATATATATTATATATATCATATATACATAT ATATTATATATATCATATATAATATATATTATATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0036 a0036	a0036c0034 a0036c0034	a0036c0034t0001 a0036c0034t0001	a0036c0034t0001g0050 a0036c0034t0001g0050	1	376	0.0027	-94	c.277 others(111): Show c.277-1772_277-1679delTCATATATACATATATATTATATATATT ATATATATCATATATACATATATATTATATATATCATATATAATATATAT TATATATATTATATAT	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41			chr2	TogoVar
MTUS2_chr13_28815339_29510947	29375515	CTATATAT others(87): Show CTATATATATATATATATATATACGTGTATATATATATATATACGTATAT ATATATATACATATATATATATACGTATATATATATATATATACG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0009 a0001c0012t0009	a0001c0012t0009g0068 a0001c0012t0009g0068	1	69	0.0145	-94	c.311 others(115): Show c.3117+16065_3117+16158delCGTGTATATATATATATATACGTA TATATATATATACATATATATATATACGTATATATATATATATATACGTA TATATATATATATATATATA	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MUSK_chr9_110663791_110811558	110689357	TAAATACA others(87): Show TAAATACATATTTATATATATGTAAAAAATATAAAAATATGTGAAAAATA CATATTTATATATAATATATGTAAAAAATATTAAAATATGTAAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0173 a0001c0001t0009g0173	1	324	0.0031	-94	c.358 others(111): Show c.358+2092_358+2185delATACATATTTATATATATGTAAAAAATA TAAAAATATGTGAAAAATACATATTTATATATAATATATGTAAAAAATAT TAAAATATGTAAAAAA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690511	AATATATA others(87): Show AATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATATAAATATATATATTTAAATATAAGTATATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0304 a0001c0001t0003g0304	1	192	0.0052	-94	c.358 others(111): Show c.358+3282_358+3375delTTAAATATAAGTATATATATAAATATAT ATATTTAAATATAAGTATATATATAAATATATATATTTAAATATAAGTAT ATATATAAATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MX1_chr21_41421239_41464212	41455722	TTGTTCTT others(87): Show TTGTTCTTTTCAATGGCTGCTGAGTATCCCATTTTATGGATGTGGTATAT TGAGCCAGCTCCCTTTAAGCGAACAGTTTGTTTGCAGTCTTTTGC	T T	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	406	0.0025	-94	c.175 others(113): Show c.1759-2804_1759-2711delGTTCTTTTCAATGGCTGCTGAGTATC CCATTTTATGGATGTGGTATATTGAGCCAGCTCCCTTTAAGCGAACAGTT TGTTTGCAGTCTTTTGCT	MX1	ENSG00000157601.15	transcript	ENST00000398598.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr21	TogoVar
MYO3B_chr2_170173147_170660167	170649096	GTATATTA others(87): Show GTATATTATATATAAAATAATATATAATGTATATAAAATAATATATAATA TATTATATATAAAATAATATATAATATATTATATATAAAATAATA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03041.hp1 HG02630.hp2 HG03041.hp1	a0022 a0025 a0022 a0025	a0022c0035 a0025c0031 a0022c0035 a0025c0031	a0022c0035t0008 a0025c0031t0008 a0022c0035t0008 a0025c0031t0008	a0022c0035t0008g0085 a0025c0031t0008g0160 a0022c0035t0008g0085 a0025c0031t0008g0160	2	149	0.0134	-94	c.373 others(113): Show c.3734-2504_3734-2411delGTATATAAAATAATATATAATATATT ATATATAAAATAATATATAATATATTATATATAAAATAATATATATTATA TATAAAATAATATATAAT	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYOM2_chr8_2040046_2150456	2054990	GACGAAGT others(87): Show GACGAAGTACCTGGATACTGGGGAACCAAGTACCTGGATACTGGGGAACC AAGTACCTGGATACTGGGGGAACGAAGTACCTGGATACTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0208 a0002c0017t0001g0208	1	207	0.0048	-94	c.264 others(111): Show c.264-2335_264-2242delAACCAAGTACCTGGATACTGGGGAACCA AGTACCTGGATACTGGGGGAACGAAGTACCTGGATACTGGGGGAACGAAG TACCTGGATACTGGGG	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1L_chr2_1784113_2336275	2307740	CACTTCAG others(87): Show CACTTCAGTACTCTCTCTATATTCCACCTATGCTTCAGTACACTCTATCT ATACTCCACCCATGTTTCAGTACACTCTATCTATACTCCACCTAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG01109.hp2 others(16): Show HG00140.hp2 HG00280.hp1 HG01109.hp2 HG02135.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02698.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04204.hp2 NA19055.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0015 a0001c0016 a0001c0022 a0002c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0006 a0001c0002t0024 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0004t0006 a0001c0004t0007 a0001c0005t0023 a0001c0007t0003 a0001c0008t0001 a0001c0008t0002 a0001c0015t0001 a0001c0016t0002 a0001c0022t0014 a0002c0010t0006	a0001c0001t0002g0090 a0001c0001t0003g0010 a0001c0001t0003g0011 others(16): Show a0001c0001t0002g0090 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0008g0009 a0001c0002t0006g0008 a0001c0002t0024g0104 a0001c0003t0002g0017 a0001c0004t0001g0102 a0001c0004t0003g0002 a0001c0004t0006g0001 a0001c0004t0007g0035 a0001c0005t0023g0103 a0001c0007t0003g0003 a0001c0008t0001g0091 a0001c0008t0002g0093 a0001c0015t0001g0015 a0001c0016t0002g0016 a0001c0022t0014g0012 a0002c0010t0006g0013	19	102	0.1863	-94	c.-52 others(115): Show c.-521+23133_-521+23226delATAGGTGGAGTATAGATAGAGTGT ACTGAAACATGGGTGGAGTATAGATAGAGTGTACTGAAGCATAGGTGGAA TATAGAGAGAGTACTGAAGT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	1/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64174004	GTTGTGTC others(87): Show GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02895.hp1 HG02897.hp1 others(4): Show HG00733.hp2 HG02895.hp1 HG02897.hp1 NA19004.hp2 NA19058.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0005 a0001c0004t0004 a0001c0001t0001 a0001c0002t0005 a0001c0004t0004	a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0094 others(4): Show a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0094 a0001c0001t0001g0122 a0001c0002t0005g0129 a0001c0002t0005g0130 a0001c0004t0004g0070	7	222	0.0315	-94	c.-99 others(111): Show c.-99+9267_-99+9360delTGTGTCCATTTCCCCTCCCTGGCTTCTC CTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTC CTGTAGCATCTTTCCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174151	GTAGTTGT others(87): Show GTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02486.hp1 HG02895.hp1 others(5): Show HG00733.hp2 HG02486.hp1 HG02895.hp1 HG02897.hp1 NA19004.hp2 NA19058.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0004t0004	a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0094 others(5): Show a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0094 a0001c0001t0001g0122 a0001c0002t0002g0048 a0001c0002t0005g0129 a0001c0002t0005g0130 a0001c0004t0004g0070	8	221	0.0362	-94	c.-99 others(111): Show c.-99+9427_-99+9520delCCCCCTCCCTGGCTTCTCCTGTAGCATC TTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTT CCTAGTTGTGTCCATT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174166	CCCCCTCC others(87): Show CCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCC CCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18612.hp1 HG02040.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0025 a0001c0001t0013g0026 a0001c0001t0001g0025 a0001c0001t0013g0026	2	62	0.0323	-94	c.-99 others(111): Show c.-99+9448_-99+9541delTAGCATCTTTCCTAGTTGTGTCCATTTC CCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCC TCCCTGGCTTCTCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174230	CCTGTAGC others(87): Show CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	222	0.0045	-94	c.-99 others(111): Show c.-99+9494_-99+9587delGTAGCATCTTTCCTAGTTGTGTCCATTT CCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTT CCCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174730	CCTGTAGC others(87): Show CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02280.hp1 HG03471.hp1 others(1): Show HG02040.hp2 HG02280.hp1 HG03471.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0002t0006	a0001c0001t0001g0025 a0001c0001t0003g0023 a0001c0001t0013g0026 others(1): Show a0001c0001t0001g0025 a0001c0001t0003g0023 a0001c0001t0013g0026 a0001c0002t0006g0022	4	222	0.0180	-94	c.-99 others(112): Show c.-99+9994_-99+10087delGTAGCATCTTTCCTAGTTGTGTCCATT TCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATT TCCCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175651	GTAGTTGT others(87): Show GTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01169.hp1 HG01496.hp1 others(11): Show HG00639.hp1 HG01169.hp1 HG01496.hp1 HG02074.hp1 HG02647.hp1 HG02809.hp1 HG03579.hp2 HG04184.hp1 NA18959.hp1 NA18995.hp1 NA19085.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0003 a0002c0011 others(2): Show a0001c0001 a0001c0003 a0002c0011 a0004c0010 a0006c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0025 a0001c0003t0007 a0001c0003t0010 a0002c0011t0003 a0004c0010t0001 a0006c0012t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 others(11): Show a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0134 a0001c0001t0003g0016 a0001c0001t0010g0012 a0001c0001t0011g0121 a0001c0001t0011g0124 a0001c0001t0025g0119 a0001c0003t0007g0149 a0001c0003t0010g0126 a0002c0011t0003g0212 a0004c0010t0001g0032 a0006c0012t0001g0214	14	221	0.0633	-94	c.-99 others(113): Show c.-99+10927_-99+11020delCCCCCTCCCTGGCTTCTCCTGTAGCA TCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCT TTCCTAGTTGTGTCCATT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175877	CCTGTAGC others(87): Show CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02895.hp1 HG02897.hp1 others(1): Show HG00280.hp1 HG02895.hp1 HG02897.hp1 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0002t0005 a0001c0005t0003 a0001c0002t0002 a0001c0002t0005 a0001c0005t0003	a0001c0002t0002g0138 a0001c0002t0005g0129 a0001c0002t0005g0130 others(1): Show a0001c0002t0002g0138 a0001c0002t0005g0129 a0001c0002t0005g0130 a0001c0005t0003g0103	4	217	0.0184	-94	c.-99 others(113): Show c.-99+11141_-99+11234delGTAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175927	CCTGCAGC others(87): Show CCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0139	1	219	0.0046	-94	c.-99 others(113): Show c.-99+11191_-99+11284delGCAGCATCTTTCCTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NDST3_chr4_118029486_118263634	118066727	ATATATAC others(87): Show ATATATACATTATATATAACATGTTATATATTATATATACATTATATATA ACATGTTATATATTATATATACATTATATATAACATGTTATATAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	214	0.0047	-94	c.981 others(113): Show c.981+11843_981+11936delCATTATATATAACATGTTATATATTA TATATACATTATATATAACATGTTATATATTATATATACATTATATATAA CATGTTATATATTATATA	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
NDST4_chr4_114822763_115118620	115021407	ACATTCCA others(87): Show ACATTCCACATACATTCCATATATACACACATTCCACATATACACATTCC ATATGTACACACGTTCCACATATACACATTCCATATATACACACG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03209.hp1 HG02723.hp2 HG03209.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0004c0013 a0001c0005 a0004c0013	a0001c0005t0001 a0004c0013t0001 a0001c0005t0001 a0004c0013t0001	a0001c0005t0001g0053 a0004c0013t0001g0054 a0001c0005t0001g0053 a0004c0013t0001g0054	2	188	0.0106	-94	c.979 others(113): Show c.979-44227_979-44134delCGTGTGTATATATGGAATGTGTATAT GTGGAACGTGTGTACATATGGAATGTGTATATGTGGAATGTGTGTATATA TGGAATGTATGTGGAATG	NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	2/13			chr4	TogoVar
NGEF_chr2_232873701_233018256	232900329	CACGCTCT others(87): Show CACGCTCTCACAGTCACTCATACACGTTCACTCACATTCACTTACACACA CACGCTCTCACAGTCACTCATATACACGTTCACTCACATTCACTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp1 others(53): Show HG00140.hp1 HG00323.hp2 HG00597.hp1 HG00609.hp1 HG01167.hp2 HG01496.hp1 HG01978.hp1 HG01993.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp2 HG02280.hp1 HG02559.hp2 HG02723.hp1 HG02723.hp2 HG02976.hp1 HG03195.hp1 HG03471.hp2 HG03540.hp1 HG03688.hp1 HG03704.hp1 HG03927.hp1 HG04199.hp2 NA18747.hp2 NA18943.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18977.hp2 NA18981.hp2 NA18985.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19065.hp2 NA19080.hp2 NA19081.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0012 a0002c0006 a0002c0008 a0002c0009 a0002c0010	a0001c0001t0013 a0001c0002t0009 a0001c0004t0004 others(9): Show a0001c0001t0013 a0001c0002t0009 a0001c0004t0004 a0001c0004t0017 a0001c0004t0024 a0001c0012t0001 a0001c0012t0010 a0002c0006t0005 a0002c0008t0004 a0002c0008t0017 a0002c0009t0002 a0002c0010t0001	a0001c0001t0013g0068 a0001c0001t0013g0073 a0001c0001t0013g0076 others(53): Show a0001c0001t0013g0068 a0001c0001t0013g0073 a0001c0001t0013g0076 a0001c0001t0013g0213 a0001c0001t0013g0264 a0001c0002t0009g0179 a0001c0004t0004g0027 a0001c0004t0004g0028 a0001c0004t0004g0029 a0001c0004t0004g0030 a0001c0004t0004g0031 a0001c0004t0004g0032 a0001c0004t0004g0033 a0001c0004t0004g0035 a0001c0004t0004g0040 a0001c0004t0004g0095 a0001c0004t0004g0126 a0001c0004t0004g0130 a0001c0004t0004g0139 a0001c0004t0004g0148 a0001c0004t0004g0153 a0001c0004t0004g0162 a0001c0004t0004g0214 a0001c0004t0004g0237 a0001c0004t0004g0261 a0001c0004t0004g0267 a0001c0004t0004g0284 a0001c0004t0004g0290 a0001c0004t0004g0291 a0001c0004t0004g0292 a0001c0004t0004g0293 a0001c0004t0004g0297 a0001c0004t0004g0301 a0001c0004t0004g0317 a0001c0004t0017g0004 a0001c0004t0024g0011 a0001c0012t0001g0114 a0001c0012t0010g0105 a0002c0006t0005g0044 a0002c0008t0004g0127 a0002c0008t0004g0134 a0002c0008t0004g0135 a0002c0008t0004g0136 a0002c0008t0004g0138 a0002c0008t0004g0141 a0002c0008t0004g0154 a0002c0008t0004g0207 a0002c0008t0004g0219 a0002c0008t0004g0220 a0002c0008t0004g0221 a0002c0008t0004g0356 a0002c0008t0017g0006 a0002c0009t0002g0328 a0002c0009t0002g0329 a0002c0009t0002g0330 a0002c0010t0001g0325	56	360	0.1556	-94	c.829 others(111): Show c.829-5507_829-5414delAAGTGAATGTGAGTGAACGTGTATATGA GTGACTGTGAGAGCGTGTGTGTGTAAGTGAATGTGAGTGAACGTGTATGA GTGACTGTGAGAGCGT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	233014566	ACATGGGT others(87): Show ACATGGGTTTCAGTTTTGTCCCTGAAAGCCAGATTGAAGTAGTCTCTCAT CTATTCTCTCACCCATCCATCCACCCATCCACCCATCCATCCACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0020 a0001c0005t0007g0020	1	360	0.0028	-94	c.-16 others(105): Show c.-1667_-1574delGGTGGATGGATGGGTGGATGGGTGGATGGATGGG TGAGAGAATAGATGAGAGACTACTTCAATCTGGCTTTCAGGGACAAAACT GAAACCCATG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding		1311		chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993525	CTCCCCTC others(87): Show CTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCTC CCCTCCTCTCCTCCCCCCTCCTCCTCTCAACCTCCCCTCTCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01975.hp2 HG02074.hp2 others(4): Show HG01192.hp2 HG01975.hp2 HG02074.hp2 NA18951.hp2 NA18962.hp1 NA18983.hp2 NA20752.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0023	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0007c0009 a0023c0043	a0001c0001t0002 a0001c0002t0003 a0002c0003t0002 others(3): Show a0001c0001t0002 a0001c0002t0003 a0002c0003t0002 a0002c0003t0005 a0007c0009t0003 a0023c0043t0003	a0001c0001t0002g0007 a0001c0002t0003g0139 a0002c0003t0002g0244 others(4): Show a0001c0001t0002g0007 a0001c0002t0003g0139 a0002c0003t0002g0244 a0002c0003t0005g0028 a0002c0003t0005g0283 a0007c0009t0003g0293 a0023c0043t0003g0077	7	333	0.0210	-94	c.56 others(105): Show c.5613_*5706delTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCTCTCCCCTCCTCTCCTCCCCCCTCCTCCTCTCAACCTCC CCTCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4897		chr19	TogoVar
NMT1_chr17_45056317_45114016	45080534	TCTCGGCT others(87): Show TCTCGGCTCACTGCAAGCTCTACCTCCCAGGTTCACACCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGTGCC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0238 a0001c0004t0003g0238	1	384	0.0026	-94	c.132 others(111): Show c.132-1108_132-1015delTCGGCTCACTGCAAGCTCTACCTCCCAG GTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGTGCCC	NMT1	ENSG00000136448.13	transcript	ENST00000258960.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
NOP14_chr4_2932936_2968406	2960929	TTTAATAT others(87): Show TTTAATATTATATCAATATTATTATATTAATATTATATCAATATTATATT AATATTATATCGATATTATTTTAATATTATATCAATATTATTATA	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	394	0.0025	-94	c.195 others(111): Show c.195+2102_195+2195delTATAATAATATTGATATAATATTAAAAT AATATCGATATAATATTAATATAATATTGATATAATATTAATATAATAAT ATTGATATAATATTAA	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NRCAM_chr7_108142649_108461436	108177627	ATATATAT others(87): Show ATATATATATATATATATATATATATATATATATGTATATACGTGTATAT ATATACGTGTATATATATATACACGTATATATATATATACGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02717.hp1 others(2): Show HG02258.hp1 HG02280.hp2 HG02717.hp1 HG02886.hp1 HG02896.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0012 a0001c0016 a0002c0005 others(2): Show a0001c0012 a0001c0016 a0002c0005 a0002c0017 a0006c0019	a0001c0012t0002 a0001c0016t0006 a0002c0005t0003 others(2): Show a0001c0012t0002 a0001c0016t0006 a0002c0005t0003 a0002c0017t0006 a0006c0019t0003	a0001c0012t0002g0173 a0001c0016t0006g0029 a0002c0005t0003g0185 others(2): Show a0001c0012t0002g0173 a0001c0016t0006g0029 a0002c0005t0003g0185 a0002c0017t0006g0155 a0006c0019t0003g0171	5	206	0.0243	-94	c.297 others(111): Show c.2974+269_2974+362delCACACGTATATATATATATACGTGTATA TATATATACACGTATATATATACACGTATATACATATATATATATATATA TATATATATATATATA	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	26/32			chr7	TogoVar
NUP205_chr7_135552917_135653753	135570701	ATTATATT others(87): Show ATTATATTAATATAATTAATTATATTTATATATTATATTAATATATTAAT TATATTTATATATTATATTAATATATATTAATTATATTTATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp1 HG02683.hp1 others(10): Show HG01081.hp2 HG02055.hp1 HG02683.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG03017.hp1 HG03453.hp2 HG03540.hp1 HG04199.hp1 NA18984.hp1 NA19012.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0021 a0001c0004 a0001c0021	a0001c0004t0002 a0001c0021t0001 a0001c0004t0002 a0001c0021t0001	a0001c0004t0002g0002 a0001c0004t0002g0043 a0001c0004t0002g0044 others(9): Show a0001c0004t0002g0002 a0001c0004t0002g0043 a0001c0004t0002g0044 a0001c0004t0002g0134 a0001c0004t0002g0136 a0001c0004t0002g0137 a0001c0004t0002g0138 a0001c0004t0002g0140 a0001c0004t0002g0142 a0001c0004t0002g0143 a0001c0004t0002g0167 a0001c0021t0001g0139	13	350	0.0371	-94	c.29- others(107): Show c.29-402_29-309delTATATTAATATAATTAATTATATTTATATATT ATATTAATATATTAATTATATTTATATATTATATTAATATATATTAATTA TATTTATATATT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXN_chr17_794310_984776	948881	CTGCCTCC others(87): Show CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCG	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	238	0.0042	-94	c.360 others(113): Show c.360+30344_360+30437delCGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948952	CCCCCCTG others(87): Show CCCCCCTGCCTCCTCCTCTCCCCGCGGGCTCCTCCTCTCCCCCCGGGCTC CTCCTCTCCCCCCGGGCTCCTCCTCTCCCCCCTGCCTCCTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	233	0.0043	-94	c.360 others(113): Show c.360+30273_360+30366delAGAGGAGGAGGCAGGGGGGAGAGGAG GAGCCCGGGGGGAGAGGAGGAGCCCGGGGGGAGAGGAGGAGCCCGCGGGG AGAGGAGGAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar

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