Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MDH2_chr7_76043106_76072508	76046331	TGTGTGTG others(11): Show TGTGTGTGTGCGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG02083.hp2 HG02523.hp1 others(8): Show HG00323.hp2 HG02083.hp2 HG02523.hp1 HG03017.hp1 HG03209.hp2 HG03239.hp2 HG04184.hp1 NA18945.hp2 NA18955.hp2 NA19074.hp1 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0005c0009t0001 a0001c0001t0001 a0005c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0051 a0001c0001t0001g0111 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0213 a0005c0009t0001g0221	11	398	0.0276	-18	c.-18 others(29): Show c.-1829_-1812delGTGTGTGTGCGCGCGCGC		MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding					1774		chr7	TogoVar
ME1_chr6_83205402_83436051	83341461	TCTTGAAG others(11): Show TCTTGAAGAGTACGTATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(105): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02280.hp1 HG02293.hp2 HG02523.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18948.hp2 NA18952.hp2 NA18959.hp1 NA18960.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19030.hp1 NA19056.hp1 NA19063.hp1 NA19066.hp2 NA19068.hp2 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA20129.hp2 NA20300.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0009 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0003t0001 a0001c0003t0004 a0001c0003t0012 a0003c0009t0001 a0005c0008t0001	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(105): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0212 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0067 a0001c0001t0002g0191 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0003g0229 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0006g0237 a0001c0001t0006g0272 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0004g0202 a0001c0002t0006g0230 a0001c0002t0006g0231 a0001c0002t0006g0232 a0001c0002t0006g0233 a0001c0002t0006g0234 a0001c0002t0006g0235 a0001c0002t0006g0261 a0001c0002t0006g0269 a0001c0003t0001g0015 a0001c0003t0004g0011 a0001c0003t0004g0012 a0001c0003t0004g0016 a0001c0003t0004g0017 a0001c0003t0004g0018 a0001c0003t0004g0020 a0001c0003t0004g0021 a0001c0003t0004g0090 a0001c0003t0012g0019 a0003c0009t0001g0088 a0005c0008t0001g0002	108	272	0.3971	-18	c.600 others(35): Show c.600+4694_600+4711delGTATACGTACTCTTCAAG		ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	5/13						chr6	TogoVar
ME2_chr18_50874118_50959257	50959178	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00735.hp2 HG02129.hp2 others(6): Show HG00558.hp2 HG00735.hp2 HG02129.hp2 HG02258.hp2 HG02622.hp1 NA18969.hp2 NA18990.hp2 NA19088.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0033 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0033 a0001c0001t0091 a0001c0001t0112 a0001c0003t0039 a0002c0002t0011 a0002c0002t0133 a0002c0002t0163	a0001c0001t0001g0273 a0001c0001t0007g0218 a0001c0001t0033g0248 others(6): Show a0001c0001t0001g0273 a0001c0001t0007g0218 a0001c0001t0033g0248 a0001c0001t0091g0270 a0001c0001t0112g0204 a0001c0003t0039g0209 a0002c0002t0011g0154 a0002c0002t0133g0168 a0002c0002t0163g0181	9	342	0.0263	-18	c.11 others(31): Show c.11995_*12012delTTTCTTTCTTTCTTTCTT		ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding					4922		chr18	TogoVar
ME3_chr11_86436108_86677616	86591184	CTGGAGGA others(11): Show CTGGAGGAGTTGGAGGAGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(128): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp2 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19010.hp1 NA19043.hp2 NA19058.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0006 others(12): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0001c0012 a0001c0019 a0001c0021 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0013 a0003c0011 a0004c0016	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0010t0001 a0001c0012t0001 a0001c0019t0002 a0001c0021t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0002c0005t0001 a0002c0005t0002 a0002c0007t0001 a0002c0007t0002 a0002c0008t0001 a0002c0008t0003 a0002c0013t0001 a0003c0011t0001 a0004c0016t0002	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0043 others(127): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0043 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0122 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0196 a0001c0001t0002g0213 a0001c0001t0002g0221 a0001c0001t0002g0232 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0001g0151 a0001c0002t0002g0279 a0001c0002t0002g0307 a0001c0002t0002g0317 a0001c0006t0001g0093 a0001c0006t0001g0102 a0001c0010t0001g0193 a0001c0012t0001g0068 a0001c0012t0001g0071 a0001c0012t0001g0072 a0001c0012t0001g0104 a0001c0019t0002g0293 a0001c0021t0001g0026 a0002c0003t0001g0001 a0002c0003t0001g0025 a0002c0003t0001g0029 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0063 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0079 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0087 a0002c0003t0001g0090 a0002c0003t0001g0098 a0002c0003t0001g0103 a0002c0003t0001g0105 a0002c0003t0002g0318 a0002c0004t0001g0154 a0002c0004t0001g0194 a0002c0004t0001g0195 a0002c0004t0003g0106 a0002c0004t0003g0207 a0002c0004t0004g0224 a0002c0004t0004g0275 a0002c0004t0004g0276 a0002c0004t0004g0277 a0002c0004t0004g0278 a0002c0005t0001g0027 a0002c0005t0001g0062 a0002c0005t0001g0092 a0002c0005t0002g0309 a0002c0007t0001g0010 a0002c0007t0001g0011 a0002c0007t0001g0013 a0002c0007t0001g0044 a0002c0007t0001g0045 a0002c0007t0002g0304 a0002c0007t0002g0313 a0002c0008t0001g0059 a0002c0008t0001g0095 a0002c0008t0001g0099 a0002c0008t0001g0100 a0002c0008t0001g0101 a0002c0008t0003g0007 a0002c0013t0001g0088 a0002c0013t0001g0089 a0002c0013t0001g0097 a0003c0011t0001g0076 a0003c0011t0001g0077 a0003c0011t0001g0197 a0003c0011t0001g0198 a0004c0016t0002g0211	131	320	0.4094	-18	c.184 others(37): Show c.184-31379_184-31362delACTCCTCCAACTCCTCCA		ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14						chr11	TogoVar
ME3_chr11_86436108_86677616	86637967	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0046 a0001c0006t0001g0046	1	320	0.0031	-18	c.183 others(37): Show c.183+33777_183+33794delGTGTGTGTGTGTGTGTGT		ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14						chr11	TogoVar
MEAF6_chr1_37484993_37519766	37498409	TTTATTAT others(11): Show TTTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02647.hp1 others(5): Show HG02258.hp2 HG02486.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp1 HG03209.hp2 HG03471.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0062 a0001c0001t0014 a0001c0001t0062	a0001c0001t0014g0351 a0001c0001t0014g0353 a0001c0001t0014g0354 others(5): Show a0001c0001t0014g0351 a0001c0001t0014g0353 a0001c0001t0014g0354 a0001c0001t0014g0355 a0001c0001t0014g0356 a0001c0001t0014g0357 a0001c0001t0014g0358 a0001c0001t0062g0352	8	428	0.0187	-18	c.534 others(35): Show c.534-2509_534-2492delTAATAATAATAATAATAA		MEAF6	ENSG00000163875.16	transcript	ENST00000296214.10	protein_coding	5/6						chr1	TogoVar
MEAK7_chr16_84471355_84509659	84490443	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp2 others(75): Show HG00099.hp1 HG00140.hp2 HG00423.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01975.hp2 HG01981.hp1 HG02080.hp1 HG02135.hp1 HG02257.hp2 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02735.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18940.hp1 NA18949.hp1 NA18951.hp2 NA18957.hp1 NA18967.hp1 NA18973.hp1 NA18975.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18989.hp1 NA18991.hp1 NA18998.hp2 NA19011.hp1 NA19043.hp1 NA19056.hp1 NA19065.hp1 NA19077.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0002 a0004 a0006 others(6): Show a0002 a0004 a0006 a0008 a0011 a0012 a0013 a0018 a0023	a0002c0003 a0002c0015 a0002c0016 others(9): Show a0002c0003 a0002c0015 a0002c0016 a0002c0024 a0004c0011 a0006c0009 a0008c0014 a0011c0023 a0012c0025 a0013c0032 a0018c0022 a0023c0039	a0002c0003t0001 a0002c0003t0006 a0002c0003t0007 others(46): Show a0002c0003t0001 a0002c0003t0006 a0002c0003t0007 a0002c0003t0010 a0002c0003t0014 a0002c0003t0015 a0002c0003t0019 a0002c0003t0029 a0002c0003t0032 a0002c0003t0047 a0002c0003t0048 a0002c0003t0049 a0002c0003t0050 a0002c0003t0062 a0002c0003t0067 a0002c0003t0112 a0002c0003t0116 a0002c0003t0117 a0002c0003t0118 a0002c0003t0120 a0002c0003t0122 a0002c0003t0123 a0002c0003t0126 a0002c0003t0127 a0002c0003t0128 a0002c0003t0136 a0002c0003t0139 a0002c0003t0145 a0002c0003t0162 a0002c0003t0207 a0002c0003t0210 a0002c0003t0212 a0002c0015t0183 a0002c0015t0193 a0002c0016t0051 a0002c0024t0196 a0004c0011t0092 a0004c0011t0094 a0004c0011t0095 a0004c0011t0096 a0004c0011t0097 a0006c0009t0088 a0008c0014t0010 a0008c0014t0046 a0011c0023t0057 a0012c0025t0004 a0013c0032t0019 a0018c0022t0007 a0023c0039t0014	a0002c0003t0001g0156 a0002c0003t0006g0133 a0002c0003t0007g0006 others(67): Show a0002c0003t0001g0156 a0002c0003t0006g0133 a0002c0003t0007g0006 a0002c0003t0007g0067 a0002c0003t0007g0072 a0002c0003t0007g0073 a0002c0003t0007g0074 a0002c0003t0007g0139 a0002c0003t0007g0191 a0002c0003t0007g0227 a0002c0003t0010g0069 a0002c0003t0010g0119 a0002c0003t0010g0129 a0002c0003t0010g0190 a0002c0003t0010g0199 a0002c0003t0014g0068 a0002c0003t0014g0125 a0002c0003t0014g0130 a0002c0003t0014g0132 a0002c0003t0015g0002 a0002c0003t0015g0135 a0002c0003t0019g0148 a0002c0003t0019g0153 a0002c0003t0019g0154 a0002c0003t0029g0076 a0002c0003t0029g0077 a0002c0003t0032g0007 a0002c0003t0032g0122 a0002c0003t0047g0380 a0002c0003t0047g0381 a0002c0003t0048g0003 a0002c0003t0049g0005 a0002c0003t0050g0008 a0002c0003t0062g0382 a0002c0003t0067g0427 a0002c0003t0112g0126 a0002c0003t0116g0127 a0002c0003t0117g0075 a0002c0003t0118g0128 a0002c0003t0120g0136 a0002c0003t0122g0200 a0002c0003t0123g0034 a0002c0003t0126g0131 a0002c0003t0127g0223 a0002c0003t0128g0404 a0002c0003t0136g0350 a0002c0003t0139g0114 a0002c0003t0145g0192 a0002c0003t0162g0383 a0002c0003t0207g0118 a0002c0003t0210g0378 a0002c0003t0212g0121 a0002c0015t0183g0070 a0002c0015t0193g0071 a0002c0016t0051g0217 a0002c0016t0051g0218 a0002c0024t0196g0210 a0004c0011t0092g0369 a0004c0011t0094g0374 a0004c0011t0095g0376 a0004c0011t0096g0033 a0004c0011t0097g0375 a0006c0009t0088g0189 a0008c0014t0010g0013 a0008c0014t0046g0372 a0011c0023t0057g0183 a0012c0025t0004g0186 a0013c0032t0019g0035 a0018c0022t0007g0193 a0023c0039t0014g0142	78	468	0.1667	-18	c.385 others(35): Show c.385-1039_385-1022delAAAAAAAAAAAAAAAAAA		MEAK7	ENSG00000140950.16	transcript	ENST00000343629.11	protein_coding	3/7						chr16	TogoVar
MECOM_chr3_169078507_169668712	169145173	CACACACA others(11): Show CACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	160	0.0063	-18	c.376 others(35): Show c.376-1359_376-1342delCTGTGTGTGTGTGTGTGT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169145175	CACACACA others(11): Show CACACACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0129 a0001c0001t0020g0129	1	160	0.0063	-18	c.376 others(35): Show c.376-1361_376-1344delCTCTGTGTGTGTGTGTGT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169183761	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01516.hp2 HG02080.hp1 others(5): Show HG00741.hp1 HG01516.hp2 HG02080.hp1 HG03834.hp2 HG06807.hp1 NA18963.hp1 NA18966.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0011 a0001c0001 a0001c0003 a0002c0011	a0001c0001t0008 a0001c0001t0049 a0001c0003t0001 others(4): Show a0001c0001t0008 a0001c0001t0049 a0001c0003t0001 a0001c0003t0005 a0001c0003t0006 a0001c0003t0048 a0002c0011t0011	a0001c0001t0008g0110 a0001c0001t0049g0155 a0001c0003t0001g0043 others(5): Show a0001c0001t0008g0110 a0001c0001t0049g0155 a0001c0003t0001g0043 a0001c0003t0001g0051 a0001c0003t0005g0097 a0001c0003t0006g0122 a0001c0003t0048g0154 a0002c0011t0011g0021	8	160	0.0500	-18	c.376 others(37): Show c.376-39947_376-39930delGTGTGTGTGTGTGTGTGT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169183803	CACACACA others(11): Show CACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0156 a0001c0001t0051g0156	1	160	0.0063	-18	c.376 others(37): Show c.376-39989_376-39972delATGTGTGTGTGTGTGTGT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169183805	CACACACA others(11): Show CACACACACACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19030.hp1 HG03098.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0007 a0001c0001t0008 a0002c0002t0007	a0001c0001t0008g0111 a0002c0002t0007g0131 a0001c0001t0008g0111 a0002c0002t0007g0131	2	160	0.0125	-18	c.376 others(37): Show c.376-39991_376-39974delATATGTGTGTGTGTGTGT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169212633	AATGTATA others(11): Show AATGTATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02615.hp1 HG02630.hp2 others(10): Show HG02132.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02896.hp1 HG03704.hp2 HG03831.hp1 HG04204.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18975.hp2 NA19002.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0009 others(2): Show a0001c0001 a0001c0004 a0001c0009 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0021 a0001c0004t0006 a0001c0009t0007 a0002c0002t0004 a0003c0005t0041	a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0004g0062 others(10): Show a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0004g0062 a0001c0001t0005g0096 a0001c0001t0005g0104 a0001c0001t0006g0121 a0001c0001t0007g0127 a0001c0001t0011g0023 a0001c0001t0021g0150 a0001c0004t0006g0120 a0001c0009t0007g0132 a0002c0002t0004g0068 a0003c0005t0041g0100	13	160	0.0813	-18	c.376 others(37): Show c.376-68819_376-68802delATATATATATATATACAT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169263077	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0109 a0001c0004t0008g0109	1	160	0.0063	-18	c.375 others(39): Show c.375+118092_375+118109delTATATATATATATATATA		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169378434	AAAGAAAG others(11): Show AAAGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0156 a0001c0001t0051g0156	1	160	0.0063	-18	c.375 others(35): Show c.375+2735_375+2752delCTTCTTTCTTTCTTTCTT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169378461	GCAAGCAA others(11): Show GCAAGCAAGCAAGCAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0130 a0001c0001t0007g0130	1	160	0.0063	-18	c.375 others(35): Show c.375+2708_375+2725delTTCTTGCTTGCTTGCTTG		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169504150	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp2 HG02965.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0016 a0001c0001t0014 a0001c0001t0016	a0001c0001t0014g0148 a0001c0001t0016g0069 a0001c0001t0014g0148 a0001c0001t0016g0069	2	160	0.0125	-18	c.38- others(37): Show c.38-122644_38-122627delACACACACACACACACAC		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169587426	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03486.hp1 HG02257.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0135 a0001c0001t0009g0145 a0001c0001t0007g0135 a0001c0001t0009g0145	2	160	0.0125	-18	c.37+ others(35): Show c.37+75892_37+75909delGTGTGTGTGTGTGTGTGT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MECP2_chrX_154016573_154102717	154037143	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02602.hp1 others(2): Show HG01884.hp1 HG01891.hp1 HG02602.hp1 HG03130.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0001t0014 a0001c0001t0029 others(1): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0029 a0001c0011t0014	a0001c0001t0002g0075 a0001c0001t0014g0053 a0001c0001t0014g0094 others(2): Show a0001c0001t0002g0075 a0001c0001t0014g0053 a0001c0001t0014g0094 a0001c0001t0029g0091 a0001c0011t0014g0038	5	230	0.0217	-18	c.27- others(33): Show c.27-4604_27-4587delATATATATATATATATAT		MECP2	ENSG00000169057.25	transcript	ENST00000303391.11	protein_coding	2/3						chrX	TogoVar
MED12L_chr3_151080664_151441653	151115327	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG01069.hp2 others(14): Show HG00140.hp1 HG00621.hp1 HG01069.hp2 HG01071.hp1 HG01192.hp2 HG01928.hp2 HG02135.hp2 HG03491.hp2 HG03492.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 NA18986.hp1 NA19000.hp2 NA19010.hp2 NA19063.hp1 NA19066.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003 a0005c0036	a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 others(9): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0002t0001 a0001c0002t0006 a0001c0002t0049 a0001c0004t0022 a0001c0005t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0005c0036t0001	a0001c0001t0004g0172 a0001c0001t0008g0084 a0001c0001t0013g0121 others(14): Show a0001c0001t0004g0172 a0001c0001t0008g0084 a0001c0001t0013g0121 a0001c0002t0001g0106 a0001c0002t0001g0117 a0001c0002t0001g0163 a0001c0002t0001g0166 a0001c0002t0006g0164 a0001c0002t0049g0123 a0001c0004t0022g0122 a0001c0005t0001g0167 a0002c0003t0003g0119 a0002c0003t0003g0120 a0002c0003t0004g0165 a0002c0003t0005g0113 a0002c0003t0005g0114 a0005c0036t0001g0042	17	280	0.0607	-18	c.100 others(33): Show c.100-989_100-972delTTTTTTTTTTTTTTTTTT		MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	2/44					INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151269397	TCACACAC others(11): Show TCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0185 a0001c0012t0003g0185	1	280	0.0036	-18	c.225 others(39): Show c.2250+75758_2250+75775delCACACACACACACACACA		MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44					INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151307531	CTCTGTGT others(11): Show CTCTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0018 a0001c0039t0018	a0001c0039t0018g0169 a0001c0039t0018g0169	1	280	0.0036	-18	c.225 others(39): Show c.2251-42526_2251-42509delCTGTGTGTGTGTGTGTGT		MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44					INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151307533	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19006.hp2 HG03225.hp1 NA19006.hp2	a0001 a0001	a0001c0002 a0001c0033 a0001c0002 a0001c0033	a0001c0002t0001 a0001c0033t0018 a0001c0002t0001 a0001c0033t0018	a0001c0002t0001g0131 a0001c0033t0018g0170 a0001c0002t0001g0131 a0001c0033t0018g0170	2	280	0.0071	-18	c.225 others(39): Show c.2251-42490_2251-42473delGTGTGTGTGTGTGTGTGT		MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44					INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12_chrX_71113596_71147450	71146145	TCTCTCTC others(11): Show TCTCTCTCTCACACACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG02280.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0148 a0001c0001t0001g0034 a0001c0001t0001g0148	2	273	0.0073	-18	c.39 others(29): Show c.3928_*3945delCTCTCTCTCACACACACA		MED12	ENSG00000184634.17	transcript	ENST00000374080.8	protein_coding					3696		chrX	TogoVar
MED13L_chr12_115953576_116282693	116031732	AAAGAAAA others(11): Show AAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02293.hp1 NA18612.hp2 HG01175.hp1 HG02293.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0002 a0001c0008t0003 a0001c0001t0001 a0001c0002t0002 a0001c0008t0003	a0001c0001t0001g0192 a0001c0002t0002g0061 a0001c0008t0003g0019 a0001c0001t0001g0192 a0001c0002t0002g0061 a0001c0008t0003g0019	3	254	0.0118	-18	c.480 others(35): Show c.480-9149_480-9132delCTTTTCTTTTCTTTTCTT		MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30						chr12	TogoVar
MED13L_chr12_115953576_116282693	116120440	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	254	0.0039	-18	c.311 others(35): Show c.311-8946_311-8929delGAGAGAGAGAGAGAGAGA		MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30						chr12	TogoVar
MED13L_chr12_115953576_116282693	116120463	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCACA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	254	0.0039	-18	c.311 others(35): Show c.311-8969_311-8952delTGTGAGAGAGAGAGAGAG		MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30						chr12	TogoVar
MED13_chr17_61937605_62070278	62015942	ATATATAT others(11): Show ATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0223 a0001c0001t0022g0223	1	326	0.0031	-18	c.128 others(37): Show c.1284-4727_1284-4710delAAAAAATATATATATATA		MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	8/29						chr17	TogoVar
MED13_chr17_61937605_62070278	62015946	ATATATAT others(11): Show ATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03579.hp2 HG02451.hp2 HG03579.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0003 a0002c0005t0001g0005 a0002c0005t0001g0003 a0002c0005t0001g0005	2	326	0.0061	-18	c.128 others(37): Show c.1284-4731_1284-4714delAAAAAAAAAATATATATA		MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	8/29						chr17	TogoVar
MED13_chr17_61937605_62070278	62065373	CCCGCCGC others(11): Show CCCGCCGCCGCCGCCGCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	326	0.0031	-18	c.-18 others(27): Show c.-186_-169delCGGCGGCGGCGGCGGCGG		MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding					96		chr17	TogoVar
MED15_chr22_20502610_20592619	20543111	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG02630.hp1 others(3): Show HG02451.hp1 HG02572.hp1 HG02630.hp1 HG02976.hp2 NA18906.hp2 NA19240.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0025 a0003c0005 others(1): Show a0001c0001 a0001c0025 a0003c0005 a0004c0009	a0001c0001t0001 a0001c0025t0001 a0003c0005t0001 others(1): Show a0001c0001t0001 a0001c0025t0001 a0003c0005t0001 a0004c0009t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0206 others(3): Show a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0206 a0001c0025t0001g0087 a0003c0005t0001g0265 a0004c0009t0001g0213	6	341	0.0176	-18	c.156 others(35): Show c.156+5931_156+5948delGTGTGTGTGTGTGTGTGT		MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr22	TogoVar
MED16_chr19_862963_898187	873059	CAGGGCTC others(11): Show CAGGGCTCCGAGGTGGGGG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01070.hp1 NA18995.hp1 HG00673.hp1 HG01070.hp1 NA18995.hp1	a0002 a0002	a0002c0003 a0002c0007 a0002c0003 a0002c0007	a0002c0003t0001 a0002c0007t0001 a0002c0003t0001 a0002c0007t0001	a0002c0003t0001g0005 a0002c0003t0001g0007 a0002c0007t0001g0011 a0002c0003t0001g0005 a0002c0003t0001g0007 a0002c0007t0001g0011	3	56	0.0536	-18	c.190 others(35): Show c.1905+372_1905+389delCCCCCACCTCGGAGCCCT		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15						chr19	TogoVar
MED16_chr19_862963_898187	873142	GGTGGGGC others(11): Show GGTGGGGCAGGGCTAGGAA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0016 a0001c0004t0001g0016	1	56	0.0179	-18	c.190 others(35): Show c.1905+289_1905+306delTTCCTAGCCCTGCCCCAC		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15						chr19	TogoVar
MED16_chr19_862963_898187	873323	GTAGGGGC others(11): Show GTAGGGGCGGGACTCCAAC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01070.hp1 HG01099.hp1 others(29): Show HG00673.hp1 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01258.hp2 HG01978.hp1 HG01978.hp2 HG02451.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 NA18906.hp1 NA18906.hp2 NA18970.hp1 NA18971.hp2 NA18995.hp1 NA19004.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0006 others(16): Show a0001c0001 a0001c0002 a0001c0006 a0001c0013 a0001c0015 a0001c0016 a0001c0017 a0002c0003 a0002c0007 a0002c0012 a0002c0020 a0002c0022 a0002c0023 a0003c0010 a0004c0019 a0005c0021 a0006c0011 a0007c0009 a0008c0018	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 others(18): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0013t0001 a0001c0015t0001 a0001c0016t0004 a0001c0017t0001 a0002c0003t0001 a0002c0007t0001 a0002c0012t0005 a0002c0020t0001 a0002c0022t0001 a0002c0023t0001 a0003c0010t0001 a0004c0019t0001 a0005c0021t0001 a0006c0011t0001 a0007c0009t0007 a0008c0018t0006	a0001c0001t0001g0046 a0001c0001t0009g0056 a0001c0002t0001g0023 others(29): Show a0001c0001t0001g0046 a0001c0001t0009g0056 a0001c0002t0001g0023 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0037 a0001c0002t0001g0047 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0006t0001g0030 a0001c0006t0001g0031 a0001c0013t0001g0032 a0001c0015t0001g0033 a0001c0016t0004g0024 a0001c0017t0001g0003 a0002c0003t0001g0005 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0010 a0002c0003t0001g0036 a0002c0007t0001g0011 a0002c0007t0001g0015 a0002c0012t0005g0025 a0002c0020t0001g0009 a0002c0022t0001g0012 a0002c0023t0001g0006 a0003c0010t0001g0051 a0004c0019t0001g0017 a0005c0021t0001g0004 a0006c0011t0001g0048 a0007c0009t0007g0027 a0008c0018t0006g0014	32	56	0.5714	-18	c.190 others(35): Show c.1905+108_1905+125delGTTGGAGTCCCGCCCCTA		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15						chr19	TogoVar
MED17_chr11_93779282_93819963	93803993	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	320	0.0031	-18	c.146 others(37): Show c.1466+2023_1466+2040delGTGTGTATATATATATAT		MED17	ENSG00000042429.12	transcript	ENST00000251871.9	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
MED17_chr11_93779282_93819963	93804014	TATATATA others(11): Show TATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	320	0.0031	-18	c.146 others(37): Show c.1466+2044_1466+2061delTATATATATATACACACA		MED17	ENSG00000042429.12	transcript	ENST00000251871.9	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
MED1_chr17_39399285_39456263	39414634	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	280	0.0036	-18	c.149 others(35): Show c.1499+374_1499+391delAAAAAAAAAAAAAAAAAA		MED1	ENSG00000125686.12	transcript	ENST00000300651.11	protein_coding	16/16						chr17	TogoVar
MED24_chr17_40014104_40059408	40031850	ACTGAAGC others(11): Show ACTGAAGCACACGCACATG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0109 a0001c0006t0007g0109	1	398	0.0025	-18	c.984 others(33): Show c.984+175_984+192delCATGTGCGTGTGCTTCAG		MED24	ENSG00000008838.21	transcript	ENST00000394128.7	protein_coding	10/25						chr17	TogoVar
MED25_chr19_49813289_49841979	49823188	AAGCGATC others(11): Show AAGCGATCCTCCTGCCTTG	A A	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	406	0.0025	-18	c.305 others(35): Show c.305+3894_305+3911delGCGATCCTCCTGCCTTGA		MED25	ENSG00000104973.19	transcript	ENST00000312865.10	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr19	TogoVar
MED27_chr9_131855112_132084867	131905712	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAACAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	274	0.0037	-18	c.574 others(37): Show c.574-11738_574-11721delCTGTTTTTTTTTTTTTTT		MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	4/7						chr9	TogoVar
MED28_chr4_17609641_17639105	17628255	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0149 a0001c0001t0149	a0001c0001t0149g0073 a0001c0001t0149g0073	1	328	0.0031	-18	c.44 others(29): Show c.4476_*4493delGTGTGTGTGTGTGTGTGT		MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding	4/4				4476	INFO_REALIGN_3_PRIME	chr4	TogoVar
MED28_chr4_17609641_17639105	17632043	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG03225.hp2 others(1): Show HG02451.hp1 HG02630.hp1 HG03225.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0045 a0001c0001t0047 a0001c0001t0021 a0001c0001t0045 a0001c0001t0047	a0001c0001t0021g0066 a0001c0001t0021g0070 a0001c0001t0045g0020 others(1): Show a0001c0001t0021g0066 a0001c0001t0021g0070 a0001c0001t0045g0020 a0001c0001t0047g0020	4	328	0.0122	-18	c.82 others(29): Show c.8272_*8289delTTTTTTTTTTTTTTTTTT		MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding	4/4				8272	INFO_REALIGN_3_PRIME	chr4	TogoVar
MED6_chr14_70578221_70605655	70588688	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02083.hp2 HG03239.hp1 others(10): Show HG00673.hp2 HG02083.hp2 HG03239.hp1 HG03669.hp2 HG04228.hp1 NA18612.hp1 NA18940.hp1 NA18944.hp1 NA18949.hp1 NA18949.hp2 NA18966.hp1 NA18985.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0029 a0001c0001t0002g0042 a0001c0001t0002g0077 others(4): Show a0001c0001t0001g0029 a0001c0001t0002g0042 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0005g0044 a0001c0001t0005g0085 a0001c0001t0011g0033	13	406	0.0320	-18	c.582 others(35): Show c.582+2560_582+2577delATTATTATTATTATTATT		MED6	ENSG00000133997.12	transcript	ENST00000256379.10	protein_coding	6/7						chr14	TogoVar
MED8_chr1_43378917_43394800	43392083	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	382	0.0026	-18	c.-23 others(29): Show c.-2337_-2320delTTTTTTTTTTTTTTTTTT		MED8	ENSG00000159479.17	transcript	ENST00000372457.9	protein_coding					2284		chr1	TogoVar
MED9_chr17_17472000_17498221	17493334	TCCGCCCC others(11): Show TCCGCCCCAGCACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp2 NA19068.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0083 a0001c0001t0001g0002 a0001c0001t0001g0083	2	404	0.0050	-18	c.18 others(29): Show c.1840_*1857delCCGCCCCAGCACACACAC		MED9	ENSG00000141026.6	transcript	ENST00000268711.4	protein_coding					114		chr17	TogoVar
MEF2A_chr15_99560984_99721488	99601807	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(70): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01943.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02486.hp2 HG02523.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02976.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 NA18940.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18961.hp2 NA18968.hp2 NA18980.hp1 NA18984.hp2 NA18990.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19076.hp1 NA19077.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0008 a0014 a0016	a0001c0001 a0001c0007 a0001c0017 others(10): Show a0001c0001 a0001c0007 a0001c0017 a0001c0028 a0002c0002 a0002c0011 a0003c0013 a0003c0031 a0004c0019 a0006c0015 a0008c0020 a0014c0029 a0016c0025	a0001c0001t0001 a0001c0001t0011 a0001c0001t0025 others(31): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0025 a0001c0001t0041 a0001c0001t0044 a0001c0001t0046 a0001c0001t0077 a0001c0001t0096 a0001c0001t0097 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0120 a0001c0001t0121 a0001c0007t0001 a0001c0017t0001 a0001c0017t0043 a0001c0028t0095 a0002c0002t0008 a0002c0002t0022 a0002c0002t0031 a0002c0002t0034 a0002c0002t0060 a0002c0002t0074 a0002c0002t0079 a0002c0011t0001 a0002c0011t0044 a0003c0013t0002 a0003c0031t0070 a0004c0019t0028 a0006c0015t0101 a0008c0020t0001 a0014c0029t0114 a0016c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0001g0124 others(69): Show a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0011g0242 a0001c0001t0011g0281 a0001c0001t0025g0207 a0001c0001t0025g0208 a0001c0001t0025g0209 a0001c0001t0041g0170 a0001c0001t0041g0186 a0001c0001t0044g0240 a0001c0001t0046g0180 a0001c0001t0077g0206 a0001c0001t0096g0029 a0001c0001t0097g0189 a0001c0001t0102g0163 a0001c0001t0103g0210 a0001c0001t0104g0030 a0001c0001t0120g0244 a0001c0001t0121g0190 a0001c0007t0001g0168 a0001c0007t0001g0184 a0001c0007t0001g0185 a0001c0007t0001g0191 a0001c0007t0001g0193 a0001c0007t0001g0260 a0001c0017t0001g0123 a0001c0017t0001g0187 a0001c0017t0043g0125 a0001c0028t0095g0203 a0002c0002t0008g0181 a0002c0002t0022g0223 a0002c0002t0031g0241 a0002c0002t0034g0251 a0002c0002t0034g0261 a0002c0002t0060g0202 a0002c0002t0074g0252 a0002c0002t0079g0201 a0002c0011t0001g0172 a0002c0011t0044g0171 a0003c0013t0002g0205 a0003c0013t0002g0372 a0003c0031t0070g0204 a0004c0019t0028g0120 a0004c0019t0028g0121 a0006c0015t0101g0175 a0008c0020t0001g0177 a0014c0029t0114g0040 a0016c0025t0001g0173	73	376	0.1942	-18	c.-14 others(37): Show c.-143+3330_-143+3347delGTGTGTGTGTGTGTGTGT		MEF2A	ENSG00000068305.19	transcript	ENST00000557942.6	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
MEF2A_chr15_99560984_99721488	99601841	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0278 a0001c0001t0064g0278	1	376	0.0027	-18	c.-14 others(37): Show c.-143+3331_-143+3348delTGTGTGTGTGTGTGTGTC		MEF2A	ENSG00000068305.19	transcript	ENST00000557942.6	protein_coding	2/11						chr15	TogoVar
MEF2A_chr15_99560984_99721488	99712504	CCAGCAGC others(11): Show CCAGCAGCAGCAGCAGCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19058.hp2 NA19058.hp2	a0017 a0017	a0017c0033 a0017c0033	a0017c0033t0094 a0017c0033t0094	a0017c0033t0094g0267 a0017c0033t0094g0267	1	376	0.0027	-18	c.126 others(27): Show c.1268_1285delAGCAGCAGCAGCAGCAGC	p.Gln others(13): Show p.Gln423_Gln428del	MEF2A	ENSG00000068305.19	transcript	ENST00000557942.6	protein_coding	12/12	1613/5580	1268/1518	423/505		INFO_REALIGN_3_PRIME	chr15	TogoVar
MEF2A_chr15_99560984_99721488	99718909	GCACACAC others(11): Show GCACACACACACACACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01981.hp2 HG02293.hp1 HG01978.hp1 HG01981.hp2 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0036 a0002c0002t0035 a0002c0002t0036	a0002c0002t0035g0142 a0002c0002t0035g0144 a0002c0002t0036g0041 a0002c0002t0035g0142 a0002c0002t0035g0144 a0002c0002t0036g0041	3	376	0.0080	-18	c.61 others(29): Show c.6139_*6156delCACACACACACACACACA		MEF2A	ENSG00000068305.19	transcript	ENST00000557942.6	protein_coding					2422		chr15	TogoVar
MEF2C_chr5_88712117_88888184	88869260	TATATATA others(11): Show TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp1 HG01981.hp2 others(5): Show HG00639.hp2 HG01192.hp1 HG01981.hp2 HG03041.hp1 HG03669.hp2 HG03688.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0110 a0001c0001t0003g0091 a0001c0001t0003g0113 others(5): Show a0001c0001t0001g0110 a0001c0001t0003g0091 a0001c0001t0003g0113 a0001c0001t0004g0011 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0114 a0001c0001t0004g0115	8	302	0.0265	-18	c.-14 others(39): Show c.-143+13677_-143+13694delGTATATATATATATATAT		MEF2C	ENSG00000081189.17	transcript	ENST00000504921.7	protein_coding	1/10						chr5	TogoVar

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