Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MDFIC_chr7_114917094_115024917	114920922	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 NA19030.hp1 HG02622.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0059 a0001c0001t0002g0060	2	334	0.0060	19	c.-18 others(30): Show c.-1822_-1821insTTTTTTTTTTTTTTTTTTT		MDFIC	ENSG00000135272.13	transcript	ENST00000393486.6	protein_coding					1171		chr7	TogoVar
MDFIC_chr7_114917094_115024917	115020003	C C	CTCCCATG others(12): Show CTCCCATGAGAAAACAGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0285 a0001c0001t0004g0285	1	334	0.0030	19	c.40 others(30): Show c.4068_*4069insTCCCATGAGAAAACAGTTT		MDFIC	ENSG00000135272.13	transcript	ENST00000393486.6	protein_coding					87		chr7	TogoVar
MDGA1_chr6_37625679_37702883	37662643	A A	AAAAAAAA others(12): Show AAAAAAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA19005.hp2 NA18949.hp1 NA19005.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0027 a0001c0001 a0008c0027	a0001c0001t0001 a0008c0027t0001 a0001c0001t0001 a0008c0027t0001	a0001c0001t0001g0200 a0008c0027t0001g0336 a0001c0001t0001g0200 a0008c0027t0001g0336	2	402	0.0050	19	c.207 others(36): Show c.207+1323_207+1324insCTTTTCTTTTCTTTTTTTT		MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	2/16						chr6	TogoVar
MDGA2_chr14_46835092_47680605	46938540	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01109.hp1 HG01978.hp1 others(5): Show HG01071.hp1 HG01109.hp1 HG01978.hp1 HG02683.hp2 HG04115.hp2 HG04199.hp1 NA18906.hp1 NA18994.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0004 a0001c0001 a0001c0005 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0005t0001 a0004c0004t0001	a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0065 others(5): Show a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0003g0038 a0001c0001t0006g0061 a0001c0001t0015g0115 a0001c0005t0001g0064 a0004c0004t0001g0100	8	120	0.0667	19	c.209 others(40): Show c.2090-18399_2090-18381dupTTTTTTTTTTTTTTTTTTT		MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	9/16						chr14	TogoVar
MDH1_chr2_63583963_63612197	63602934	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	354	0.0028	19	c.499 others(36): Show c.499-1737_499-1719dupTTTTTTTTTTTTTTTTTTT		MDH1	ENSG00000014641.21	transcript	ENST00000233114.13	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
MDM4_chr1_204511406_204563120	204551461	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0034 a0001c0001t0060g0034	1	372	0.0027	19	c.17 others(30): Show c.1790_*1808dupTTTTTTTTTTTTTTTTTTT		MDM4	ENSG00000198625.14	transcript	ENST00000367182.8	protein_coding	11/11				1809	INFO_REALIGN_3_PRIME	chr1	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0049 a0049	a0049c0044 a0049c0044	a0049c0044t0001 a0049c0044t0001	a0049c0044t0001g0075 a0049c0044t0001g0075	1	290	0.0035	19	c.139 others(38): Show c.13956+748_13956+749insAAAAAAAAAAAAATATATA		MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101						chr6	TogoVar
MDN1_chr6_89637498_89824794	89809834	A A	AAAATAAA others(12): Show AAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0003 a0003	a0003c0060 a0003c0060	a0003c0060t0001 a0003c0060t0001	a0003c0060t0001g0218 a0003c0060t0001g0218	1	290	0.0035	19	c.103 others(36): Show c.103-6281_103-6280insATTTTATTTTATTTTATTT		MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	1/101						chr6	TogoVar
ME1_chr6_83205402_83436051	83237227	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA19000.hp2 HG01346.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0185 a0001c0002t0001g0154 a0001c0002t0001g0185	2	272	0.0074	19	c.102 others(36): Show c.1026+489_1026+490insCTTTCTTTCTTTCTTTCTT		ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	9/13						chr6	TogoVar
ME1_chr6_83205402_83436051	83283227	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00621.hp2 others(21): Show HG00438.hp2 HG00597.hp2 HG00621.hp2 HG01243.hp1 HG01981.hp1 HG01981.hp2 HG02074.hp1 HG02523.hp2 HG03492.hp1 HG03579.hp2 NA18612.hp1 NA18941.hp2 NA18944.hp1 NA18948.hp2 NA18983.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19056.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0011 a0002c0004t0005	a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0003g0239 others(21): Show a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0250 a0001c0001t0003g0254 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0263 a0001c0001t0003g0266 a0001c0001t0010g0225 a0001c0002t0004g0183 a0001c0002t0004g0202 a0001c0002t0005g0215 a0001c0002t0006g0261 a0001c0002t0011g0217 a0002c0004t0005g0214 a0002c0004t0005g0221	24	272	0.0882	19	c.705 others(38): Show c.705-29508_705-29490dupTTTTTTTTTTTTTTTTTTT		ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13						chr6	TogoVar
ME1_chr6_83205402_83436051	83376804	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(35): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01081.hp1 HG01192.hp2 HG01346.hp1 HG01516.hp1 HG01981.hp2 HG01993.hp1 HG02083.hp2 HG02293.hp2 HG02698.hp1 HG02735.hp2 HG02895.hp1 HG03041.hp2 HG03654.hp2 HG03669.hp1 NA18941.hp2 NA18952.hp2 NA18960.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18995.hp1 NA18998.hp2 NA19005.hp1 NA19056.hp1 NA19066.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 others(35): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0190 a0001c0001t0001g0212 a0001c0001t0003g0229 a0001c0001t0003g0238 a0001c0001t0003g0240 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0256 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0006g0230 a0001c0002t0006g0231 a0001c0002t0006g0232 a0001c0002t0006g0261 a0001c0002t0006g0269	38	272	0.1397	19	c.362 others(38): Show c.362+21562_362+21563insTTTTTTTTTTTTTTTTTTT		ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13						chr6	TogoVar
ME2_chr18_50874118_50959257	50950467	C C	CCTTTTTT others(12): Show CCTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0118 a0001c0001t0051g0118	1	342	0.0029	19	c.32 others(30): Show c.3283_*3284insCTTTTTTTTTTTTTTTTTT		ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding	16/16				3284		chr18	TogoVar
ME3_chr11_86436108_86677616	86471141	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	320	0.0031	19	c.810 others(36): Show c.810-5960_810-5942dupAAAAAAAAAAAAAAAAAAA		ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	7/14						chr11	TogoVar
ME3_chr11_86436108_86677616	86521425	A A	AAAATAAT others(12): Show AAAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02004.hp2 HG02717.hp1 others(3): Show HG00558.hp1 HG02004.hp2 HG02717.hp1 NA18989.hp1 NA19001.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0002c0005t0002 a0001c0001t0001 a0001c0001t0002 a0002c0005t0002	a0001c0001t0001g0047 a0001c0001t0001g0078 a0001c0001t0001g0131 others(3): Show a0001c0001t0001g0047 a0001c0001t0001g0078 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0002g0213 a0002c0005t0002g0259	6	320	0.0188	19	c.468 others(38): Show c.468-12559_468-12558insATTATTATTATTATTATTT		ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	4/14						chr11	TogoVar
ME3_chr11_86436108_86677616	86521431	A A	AAAAAAAT others(12): Show AAAAAAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	320	0.0031	19	c.468 others(38): Show c.468-12565_468-12564insATTATTATTATTATTTTTT		ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	4/14						chr11	TogoVar
ME3_chr11_86436108_86677616	86521431	A A	AAAATAAT others(12): Show AAAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02258.hp2 HG03654.hp1 HG01358.hp1 HG02258.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0002t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0002t0001g0166	3	320	0.0094	19	c.468 others(38): Show c.468-12565_468-12564insATTATTATTATTATTATTT		ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	4/14						chr11	TogoVar
ME3_chr11_86436108_86677616	86521431	A A	ATAATAAT others(12): Show ATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02109.hp2 HG02280.hp2 HG01168.hp1 HG02109.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0171 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0171	3	320	0.0094	19	c.468 others(38): Show c.468-12565_468-12564insATTATTATTATTATTATTA		ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	4/14						chr11	TogoVar
MEAK7_chr16_84471355_84509659	84479390	G G	GCTAATGC others(12): Show GCTAATGCCAGCGGAATTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01071.hp1 others(8): Show HG00639.hp2 HG01069.hp2 HG01071.hp1 HG01515.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp2 HG03942.hp1 NA18944.hp2 NA18977.hp2 NA19063.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0005c0008	a0001c0001t0068 a0001c0001t0087 a0001c0001t0206 others(5): Show a0001c0001t0068 a0001c0001t0087 a0001c0001t0206 a0001c0002t0026 a0002c0003t0049 a0002c0003t0207 a0003c0004t0225 a0005c0008t0026	a0001c0001t0068g0196 a0001c0001t0068g0245 a0001c0001t0087g0213 others(7): Show a0001c0001t0068g0196 a0001c0001t0068g0245 a0001c0001t0087g0213 a0001c0001t0206g0403 a0001c0002t0026g0309 a0002c0003t0049g0005 a0002c0003t0207g0118 a0003c0004t0225g0449 a0005c0008t0026g0100 a0005c0008t0026g0101	11	468	0.0235	19	c.50 others(28): Show c.504_*522dupGGAATTCCGCTGGCATTAG		MEAK7	ENSG00000140950.16	transcript	ENST00000343629.11	protein_coding	8/8				522		chr16	TogoVar
MEAK7_chr16_84471355_84509659	84479402	G G	GGAATTCC others(12): Show GGAATTCCCTAATGCCAGCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp2 HG03130.hp2 NA19240.hp1 HG02723.hp2 HG03130.hp2 NA19240.hp1	a0003 a0016 a0003 a0016	a0003c0004 a0016c0039 a0003c0004 a0016c0039	a0003c0004t0052 a0003c0004t0138 a0016c0039t0052 a0003c0004t0052 a0003c0004t0138 a0016c0039t0052	a0003c0004t0052g0337 a0003c0004t0138g0339 a0016c0039t0052g0340 a0003c0004t0052g0337 a0003c0004t0138g0339 a0016c0039t0052g0340	3	468	0.0064	19	c.51 others(28): Show c.510_*511insTGCTGGCATTAGGGAATTC		MEAK7	ENSG00000140950.16	transcript	ENST00000343629.11	protein_coding	8/8				510		chr16	TogoVar
MEAK7_chr16_84471355_84509659	84479478	G G	GGAATTCC others(12): Show GGAATTCCCTAATGTCAGCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0129 a0001c0005t0129	a0001c0005t0129g0416 a0001c0005t0129g0416	1	468	0.0021	19	c.43 others(28): Show c.434_*435insTGCTGACATTAGGGAATTC		MEAK7	ENSG00000140950.16	transcript	ENST00000343629.11	protein_coding	8/8				434		chr16	TogoVar
MECOM_chr3_169078507_169668712	169097817	T T	TATAAAAA others(12): Show TATAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01081.hp2 NA19011.hp2 others(1): Show HG00544.hp2 HG01081.hp2 NA19011.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0034 a0002c0002t0002 a0001c0001t0001 a0001c0001t0034 a0002c0002t0002	a0001c0001t0001g0052 a0001c0001t0034g0020 a0002c0002t0002g0086 others(1): Show a0001c0001t0001g0052 a0001c0001t0034g0020 a0002c0002t0002g0086 a0002c0002t0002g0087	4	160	0.0250	19	c.285 others(38): Show c.2850-2573_2850-2572insTTTTTTTTTTTTTTTTTAT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	12/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169441728	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0080 a0001c0001t0010g0080	1	160	0.0063	19	c.38- others(36): Show c.38-60205_38-60204insAAAAAAAAAAAAAAAAAAA		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169485974	A A	ACATATAT others(12): Show ACATATATATACTATATATG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp2 others(16): Show HG00408.hp2 HG00438.hp2 HG00544.hp2 HG02015.hp2 HG02132.hp2 HG02559.hp2 NA18951.hp1 NA18960.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18975.hp1 NA18988.hp2 NA19007.hp2 NA19011.hp2 NA19066.hp2 NA19070.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0020 a0001c0001t0026 a0001c0001t0049 a0001c0003t0005 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0035 a0002c0002t0042 a0002c0002t0047 a0002c0011t0011	a0001c0001t0001g0052 a0001c0001t0002g0076 a0001c0001t0004g0072 others(16): Show a0001c0001t0001g0052 a0001c0001t0002g0076 a0001c0001t0004g0072 a0001c0001t0006g0116 a0001c0001t0006g0118 a0001c0001t0007g0127 a0001c0001t0010g0079 a0001c0001t0020g0128 a0001c0001t0026g0005 a0001c0001t0049g0155 a0001c0003t0005g0098 a0002c0002t0002g0087 a0002c0002t0004g0065 a0002c0002t0004g0068 a0002c0002t0005g0095 a0002c0002t0035g0026 a0002c0002t0042g0117 a0002c0002t0047g0153 a0002c0011t0011g0021	19	160	0.1188	19	c.38- others(38): Show c.38-104451_38-104450insCATATATAGTATATATATG		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169486008	A A	ATATATAT others(12): Show ATATATATGTATATATATAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0043	a0002c0002t0043g0126 a0002c0002t0043g0126	1	160	0.0063	19	c.38- others(38): Show c.38-104485_38-104484insGTATATATATACATATATA		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169507650	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03195.hp2 HG03516.hp2 others(1): Show HG02451.hp2 HG03195.hp2 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015	a0001c0001t0001g0055 a0001c0001t0008g0107 a0001c0001t0014g0148 others(1): Show a0001c0001t0001g0055 a0001c0001t0008g0107 a0001c0001t0014g0148 a0001c0001t0015g0014	4	160	0.0250	19	c.38- others(38): Show c.38-126145_38-126127dupAAAAAAAAAAAAAAAAAAA		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169594174	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0122 a0001c0003t0006g0122	1	160	0.0063	19	c.37+ others(36): Show c.37+69161_37+69162insGTTTTTTTTTTTTTTTTTT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169594178	A A	AAAAAACC others(12): Show AAAAAACCAAAAAACACCTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0059 a0001c0004t0001g0059	1	160	0.0063	19	c.37+ others(36): Show c.37+69157_37+69158insAAGGTGTTTTTTGGTTTTT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MED12L_chr3_151080664_151441653	151151031	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01255.hp1 HG01496.hp2 others(7): Show HG01167.hp2 HG01255.hp1 HG01496.hp2 HG03139.hp1 NA18955.hp1 NA18966.hp1 NA19030.hp2 NA19060.hp1 NA19082.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0023	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0004t0002 a0001c0009t0012 a0001c0023t0002	a0001c0001t0002g0196 a0001c0001t0002g0241 a0001c0002t0001g0108 others(7): Show a0001c0001t0002g0196 a0001c0001t0002g0241 a0001c0002t0001g0108 a0001c0002t0003g0279 a0001c0004t0002g0138 a0001c0004t0002g0191 a0001c0004t0002g0233 a0001c0009t0012g0175 a0001c0009t0012g0176 a0001c0023t0002g0027	10	280	0.0357	19	c.557 others(36): Show c.557-5125_557-5107dupTTTTTTTTTTTTTTTTTTT		MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44					INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151269847	T T	TCAGCAGG others(12): Show TCAGCAGGAAGAGGCAGCAC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0250 a0001c0004t0002g0250	1	280	0.0036	19	c.225 others(40): Show c.2250+76182_2250+76200dupCAGCAGGAAGAGGCAGCAC		MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44					INFO_REALIGN_3_PRIME	chr3	TogoVar
MED13L_chr12_115953576_116282693	116024773	C C	CGGGGGGG others(12): Show CGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	254	0.0039	19	c.480 others(36): Show c.480-2173_480-2172insCCCCCCCCCCCCCCCCCCC		MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30						chr12	TogoVar
MED13L_chr12_115953576_116282693	116038744	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0136 a0001c0001t0013g0136	1	254	0.0039	19	c.480 others(38): Show c.480-16162_480-16144dupTTTTTTTTTTTTTTTTTTT		MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30						chr12	TogoVar
MED13L_chr12_115953576_116282693	116096354	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	254	0.0039	19	c.479 others(34): Show c.479+296_479+314dupTTTTTTTTTTTTTTTTTTT		MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30						chr12	TogoVar
MED13L_chr12_115953576_116282693	116148051	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA18612.hp1 HG01515.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0142 a0001c0001t0001g0151	2	254	0.0079	19	c.311 others(38): Show c.311-36558_311-36540dupTTTTTTTTTTTTTTTTTTT		MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30						chr12	TogoVar
MED13_chr17_61937605_62070278	62015954	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	326	0.0031	19	c.128 others(38): Show c.1284-4722_1284-4721insATATATATATATATATATA		MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	8/29						chr17	TogoVar
MED15_chr22_20502610_20592619	20505559	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0264 a0001c0002t0002g0264	1	341	0.0029	19	c.-21 others(30): Show c.-2120_-2119insAAAAAAAAAAAAAAAAAAA		MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding					2050		chr22	TogoVar
MED16_chr19_862963_898187	868240	C C	CCTTCAAC others(12): Show CCTTCAACAGCCCTGCAGGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01099.hp1 HG01099.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0051 a0003c0013t0001g0051	1	56	0.0179	19	c.248 others(30): Show c.2484-8_2494dupCCCTGCAGGGCTGTTGAAG	p.Gly others(5): Show p.Gly832fs	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	16/16	2614/2892	2494/2634	832/877			chr19	TogoVar
MED17_chr11_93779282_93819963	93793114	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01106.hp2 others(11): Show HG00280.hp1 HG00741.hp2 HG01106.hp2 HG02071.hp2 HG02135.hp1 HG02135.hp2 HG02280.hp2 HG03492.hp1 HG04184.hp2 NA19030.hp2 NA19062.hp1 NA19070.hp2 NA19079.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0001 a0002c0002t0005 a0002c0006t0009 a0001c0001t0001 a0002c0002t0005 a0002c0006t0009	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0061 others(11): Show a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0248 a0002c0002t0005g0182 a0002c0006t0009g0146	14	320	0.0438	19	c.638 others(34): Show c.638-611_638-593dupTTTTTTTTTTTTTTTTTTT		MED17	ENSG00000042429.12	transcript	ENST00000251871.9	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
MED19_chr11_57698710_57717215	57702423	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	380	0.0026	19	c.16 others(30): Show c.1614_*1615insATATATATATATATATATA		MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding					1286		chr11	TogoVar
MED19_chr11_57698710_57717215	57702425	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG03831.hp1 HG02615.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0041 a0001c0001t0001g0048	2	380	0.0053	19	c.16 others(30): Show c.1612_*1613insATATATATATATATATATA		MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding					1284		chr11	TogoVar
MED19_chr11_57698710_57717215	57702427	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	380	0.0026	19	c.16 others(30): Show c.1610_*1611insATATATATATATATATATA		MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding					1282		chr11	TogoVar
MED19_chr11_57698710_57717215	57702435	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	380	0.0026	19	c.16 others(30): Show c.1602_*1603insATATATATATATATATATA		MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding					1274		chr11	TogoVar
MED19_chr11_57698710_57717215	57702437	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	380	0.0026	19	c.16 others(30): Show c.1600_*1601insATATATATATATATATTTT		MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding					1272		chr11	TogoVar
MED19_chr11_57698710_57717215	57702437	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03486.hp2 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0006 a0001c0001t0001g0027	2	380	0.0053	19	c.16 others(30): Show c.1600_*1601insATATATATATATATATATA		MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding					1272		chr11	TogoVar
MED24_chr17_40014104_40059408	40043890	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19003.hp1 NA19240.hp2 HG02922.hp1 NA19003.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0013 a0001c0001t0002 a0001c0009t0013	a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0009t0013g0086 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0009t0013g0086	3	398	0.0075	19	c.214 others(36): Show c.214-7737_214-7736insTTTTTTTTTTTTTTTTTTT		MED24	ENSG00000008838.21	transcript	ENST00000394128.7	protein_coding	3/25						chr17	TogoVar
MED25_chr19_49813289_49841979	49815352	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 NA18949.hp1 NA19066.hp1 HG03927.hp2 NA18949.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0154 a0001c0003t0001g0027 a0001c0003t0001g0154	3	406	0.0074	19	c.-29 others(30): Show c.-2990_-2989insAAAAAAAAAAAAAAAAAAA		MED25	ENSG00000104973.19	transcript	ENST00000312865.10	protein_coding					2936		chr19	TogoVar
MED25_chr19_49813289_49841979	49830902	G G	GCCTCCTG others(12): Show GCCTCCTGCCCCTGCTCCTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0164 a0001c0003t0001g0164	1	406	0.0025	19	c.110 others(34): Show c.1101+24_1101+42dupCCCTGCTCCTTCCTCCTGC		MED25	ENSG00000104973.19	transcript	ENST00000312865.10	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr19	TogoVar
MED27_chr9_131855112_132084867	131966383	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01891.hp1 others(6): Show HG00735.hp1 HG00738.hp2 HG01891.hp1 HG02818.hp1 NA18957.hp1 NA18964.hp2 NA18971.hp1 NA19007.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 others(6): Show a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197	9	274	0.0329	19	c.480 others(38): Show c.480-26910_480-26909insTTTTTTTTTTTTTTTTTTT		MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7						chr9	TogoVar
MED28_chr4_17609641_17639105	17613882	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 NA18998.hp2 NA19085.hp2 HG04199.hp1 NA18998.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0031 a0001c0001t0102 a0001c0001t0005 a0001c0001t0031 a0001c0001t0102	a0001c0001t0005g0005 a0001c0001t0031g0005 a0001c0001t0102g0021 a0001c0001t0005g0005 a0001c0001t0031g0005 a0001c0001t0102g0021	3	328	0.0092	19	c.-77 others(28): Show c.-773_-772insAAAAAAAAAAAAAAAAAAA		MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding					758		chr4	TogoVar
MED31_chr17_6638311_6656605	6651120	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01168.hp2 NA18962.hp1 others(1): Show HG00639.hp2 HG01168.hp2 NA18962.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0028 a0001c0001t0001g0073 a0001c0001t0007g0074 a0001c0001t0001g0028 a0001c0001t0001g0073 a0001c0001t0007g0074	4	428	0.0094	19	c.28+ others(32): Show c.28+380_28+381insTTTTTTTTTTTTTTTTTTT		MED31	ENSG00000108590.11	transcript	ENST00000225728.8	protein_coding	1/3						chr17	TogoVar
MED9_chr17_17472000_17498221	17494413	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG01243.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0001 a0001c0001t0001g0025	2	404	0.0050	19	c.29 others(30): Show c.2918_*2919insAAAAAAAAAAAAAAAAAAA		MED9	ENSG00000141026.6	transcript	ENST00000268711.4	protein_coding					1193		chr17	TogoVar

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