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
MMACHC_chr1_45495300_45518382	45509416	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp1 NA18959.hp2 HG03098.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0075 a0001c0005t0076 a0001c0001t0075 a0001c0005t0076	a0001c0001t0075g0090 a0001c0005t0076g0083 a0001c0001t0075g0090 a0001c0005t0076g0083	2	386	0.0052	15	c.20 others(24): Show c.203_*217dupTTTTTTTTTTTTTTT		MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding	4/4				218	INFO_REALIGN_3_PRIME	chr1	TogoVar
MMACHC_chr1_45495300_45518382	45515598	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00642.hp1 others(39): Show HG00323.hp1 HG00544.hp1 HG00642.hp1 HG00741.hp1 HG01099.hp1 HG01109.hp1 HG01243.hp1 HG01257.hp1 HG01346.hp2 HG01433.hp2 HG01516.hp1 HG01934.hp1 HG01943.hp2 HG02004.hp2 HG02015.hp1 HG02523.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG02965.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03942.hp2 NA18950.hp2 NA18957.hp2 NA18967.hp2 NA18970.hp2 NA18975.hp1 NA18976.hp2 NA18979.hp2 NA18999.hp2 NA19002.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19075.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(8): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0078 a0001c0010t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0021 others(24): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0006g0002 a0001c0001t0006g0103 a0001c0001t0006g0107 a0001c0001t0008g0002 a0001c0001t0008g0003 a0001c0001t0008g0041 a0001c0001t0008g0117 a0001c0001t0014g0003 a0001c0001t0015g0003 a0001c0001t0019g0003 a0001c0001t0045g0043 a0001c0001t0048g0002 a0001c0001t0049g0016 a0001c0001t0078g0116 a0001c0010t0002g0025	42	386	0.1088	15	c.63 others(26): Show c.6383_*6384insAAAAAAAAAAAAAAA		MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding					2217		chr1	TogoVar
MMADHC_chr2_149564637_149592775	149572335	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp1 HG03225.hp2 HG02109.hp2 HG02615.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0083 a0001c0002t0002g0095 a0001c0002t0008g0096 a0001c0002t0002g0083 a0001c0002t0002g0095 a0001c0002t0008g0096	3	334	0.0090	15	c.610 others(32): Show c.610-1165_610-1164insTTTTTTTTTTTTTTT		MMADHC	ENSG00000168288.13	transcript	ENST00000303319.10	protein_coding	6/7						chr2	TogoVar
MMD2_chr7_4900998_4964187	4945184	C C	CCTTCTTC others(8): Show CCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG03209.hp2 HG03516.hp1 others(6): Show HG01928.hp2 HG03209.hp2 HG03516.hp1 HG03831.hp1 HG04204.hp2 HG04228.hp2 NA18982.hp1 NA19011.hp2 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0032	a0001c0002t0001g0166 a0001c0002t0001g0230 a0001c0002t0001g0236 others(6): Show a0001c0002t0001g0166 a0001c0002t0001g0230 a0001c0002t0001g0236 a0001c0002t0002g0156 a0001c0002t0003g0151 a0001c0002t0004g0171 a0001c0002t0005g0144 a0001c0002t0005g0172 a0001c0002t0032g0152	9	382	0.0236	15	c.47+ others(32): Show c.47+13786_47+13787insAAGAAGAAGAAGAAG		MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6						chr7	TogoVar
MMD2_chr7_4900998_4964187	4945185	T T	TTTCTTCT others(8): Show TTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG01074.hp1 others(49): Show HG00408.hp1 HG00639.hp1 HG01074.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02738.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03516.hp2 HG03579.hp1 HG03710.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18942.hp2 NA18946.hp2 NA18952.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18983.hp1 NA18986.hp2 NA18994.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19060.hp2 NA19066.hp1 NA19070.hp2 NA19081.hp2 NA19085.hp2 NA19087.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0014 a0001c0002t0023 a0001c0002t0038 a0001c0003t0001 a0001c0003t0004 a0001c0006t0001	a0001c0001t0001g0007 a0001c0001t0001g0149 a0001c0001t0001g0198 others(48): Show a0001c0001t0001g0007 a0001c0001t0001g0149 a0001c0001t0001g0198 a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0036 a0001c0001t0002g0252 a0001c0001t0002g0267 a0001c0001t0003g0010 a0001c0001t0003g0058 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0250 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0005g0070 a0001c0001t0005g0075 a0001c0001t0007g0074 a0001c0001t0007g0083 a0001c0001t0007g0085 a0001c0001t0007g0224 a0001c0001t0010g0336 a0001c0001t0011g0334 a0001c0001t0012g0071 a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0033 a0001c0002t0001g0102 a0001c0002t0001g0128 a0001c0002t0001g0131 a0001c0002t0001g0184 a0001c0002t0001g0205 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0242 a0001c0002t0003g0183 a0001c0002t0006g0354 a0001c0002t0006g0358 a0001c0002t0008g0376 a0001c0002t0014g0342 a0001c0002t0023g0005 a0001c0002t0038g0364 a0001c0003t0001g0318 a0001c0003t0004g0298 a0001c0003t0004g0304 a0001c0003t0004g0305 a0001c0003t0004g0316 a0001c0006t0001g0217	52	382	0.1361	15	c.47+ others(32): Show c.47+13771_47+13785dupGAAGAAGAAGAAGAA		MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6						chr7	TogoVar
MMD2_chr7_4900998_4964187	4945409	C C	CAGGTGCC others(8): Show CAGGTGCCCGCCACCA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0362 a0001c0002t0006g0362	1	382	0.0026	15	c.47+ others(32): Show c.47+13547_47+13561dupTGGTGGCGGGCACCT		MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6						chr7	TogoVar
MME_chr3_155075319_155188704	155133060	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	336	0.0030	15	c.721 others(32): Show c.721-5042_721-5041insTATATATATATATAT		MME	ENSG00000196549.13	transcript	ENST00000360490.7	protein_coding	8/22						chr3	TogoVar
MMP14_chr14_22831585_22852758	22843265	A A	ATCTTCCT others(8): Show ATCTTCCTGGTGGCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18972.hp2 NA18972.hp2	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0001 a0007c0020t0001	a0007c0020t0001g0068 a0007c0020t0001g0068	1	466	0.0022	15	c.699 others(22): Show c.699_713dupCTTCCTGGTGGCTGT	p.Val others(28): Show p.Val238_His239insPheLeuValAlaVal	MMP14	ENSG00000157227.14	transcript	ENST00000311852.11	protein_coding	5/10	947/3701	714/1749	238/582		INFO_REALIGN_3_PRIME	chr14	TogoVar
MMP16_chr8_88027011_88332483	88075975	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	186	0.0054	15	c.108 others(34): Show c.1084-1233_1084-1232insGTGTGTGTGTGTGTG		MMP16	ENSG00000156103.16	transcript	ENST00000286614.11	protein_coding	6/9						chr8	TogoVar
MMP17_chr12_131823393_131856771	131827353	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA19043.hp2 NA18906.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0002 a0002c0009t0001 a0002c0002t0002 a0002c0009t0001	a0002c0002t0002g0089 a0002c0009t0001g0085 a0002c0002t0002g0089 a0002c0009t0001g0085	2	398	0.0050	15	c.-11 others(26): Show c.-1142_-1141insGGGGGGGGGGGGGGG		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1039		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827367	G G	GGGGGGGG others(8): Show GGGGGGGGGGGGGGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0174 a0004c0005t0001g0174	1	398	0.0025	15	c.-11 others(26): Show c.-1128_-1127insGGGGGGGGGGGGGTT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1025		chr12	TogoVar
MMP17_chr12_131823393_131856771	131844786	T T	TTGGGGTC others(8): Show TTGGGGTCCCGTGGCG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0014 a0014	a0014c0031 a0014c0031	a0014c0031t0001 a0014c0031t0001	a0014c0031t0001g0144 a0014c0031t0001g0144	1	398	0.0025	15	c.969 others(30): Show c.969-312_969-298dupGTCCCGTGGCGTGGG		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
MMP17_chr12_131823393_131856771	131853475	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01358.hp1 HG01981.hp2 others(1): Show HG01109.hp1 HG01358.hp1 HG01981.hp2 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0101 a0001c0001t0001g0118 a0001c0001t0001g0133 others(1): Show a0001c0001t0001g0101 a0001c0001t0001g0118 a0001c0001t0001g0133 a0002c0002t0001g0164	4	398	0.0101	15	c.22 others(26): Show c.2201_*2202insTTTTTTTTTTTTTTT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1705		chr12	TogoVar
MMP24_chr20_35221690_35281998	35223330	T T	TATAATAA others(8): Show TATAATAATAATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01081.hp1 HG01243.hp2 others(14): Show HG00673.hp2 HG01081.hp1 HG01243.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG02015.hp1 HG02027.hp2 HG02965.hp1 HG02970.hp1 HG03540.hp1 HG03704.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0003 a0001c0003t0002 a0001c0003t0025 others(1): Show a0001c0001t0003 a0001c0003t0002 a0001c0003t0025 a0001c0009t0002	a0001c0001t0003g0009 a0001c0001t0003g0112 a0001c0001t0003g0117 others(12): Show a0001c0001t0003g0009 a0001c0001t0003g0112 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0137 a0001c0001t0003g0290 a0001c0003t0002g0002 a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0032 a0001c0003t0025g0057 a0001c0009t0002g0067	17	320	0.0531	15	c.-34 others(26): Show c.-3409_-3408insATAATAATAATAATA		MMP24	ENSG00000125966.10	transcript	ENST00000246186.8	protein_coding					3359		chr20	TogoVar
MMP24_chr20_35221690_35281998	35253270	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03486.hp1 NA20129.hp1 HG01261.hp1 HG03486.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011	a0001c0001t0003g0124 a0001c0001t0005g0127 a0001c0001t0011g0020 a0001c0001t0003g0124 a0001c0001t0005g0127 a0001c0001t0011g0020	3	320	0.0094	15	c.513 others(32): Show c.513-1171_513-1157dupTTTTTTTTTTTTTTT		MMP24	ENSG00000125966.10	transcript	ENST00000246186.8	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr20	TogoVar
MMP26_chr11_4699784_4997429	4907095	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp2 HG03195.hp2 others(1): Show HG02886.hp1 HG03130.hp2 HG03195.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0085 others(1): Show a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0085 a0001c0001t0001g0190	4	206	0.0194	15	c.-14 others(36): Show c.-144-80967_-144-80953dupAAAAAAAAAAAAAAA		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4986959	C C	CTCTCTCT others(8): Show CTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	206	0.0049	15	c.-14 others(34): Show c.-144-1109_-144-1108insTCTCTCTCTCTCTCT		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7						chr11	TogoVar
MMP26_chr11_4699784_4997429	4996721	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	206	0.0049	15	c.44 others(26): Show c.4479_*4480insTTCTTTCTTTCTTTC		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding					4293		chr11	TogoVar
MMP27_chr11_102686487_102710769	102708796	A A	AATTTAAA others(8): Show AATTTAAATAAATTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00558.hp1 others(89): Show HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03688.hp1 HG03942.hp1 HG04115.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18947.hp1 NA18950.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19079.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0003 a0005 a0008 others(1): Show a0003 a0005 a0008 a0018	a0003c0003 a0003c0020 a0005c0006 others(5): Show a0003c0003 a0003c0020 a0005c0006 a0005c0010 a0005c0014 a0005c0019 a0008c0007 a0018c0018	a0003c0003t0001 a0003c0020t0001 a0005c0006t0001 others(5): Show a0003c0003t0001 a0003c0020t0001 a0005c0006t0001 a0005c0010t0001 a0005c0014t0001 a0005c0019t0001 a0008c0007t0001 a0018c0018t0001	a0003c0003t0001g0004 a0003c0003t0001g0012 a0003c0003t0001g0013 others(26): Show a0003c0003t0001g0004 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0037 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0020t0001g0067 a0005c0006t0001g0009 a0005c0006t0001g0021 a0005c0006t0001g0036 a0005c0006t0001g0056 a0005c0006t0001g0057 a0005c0006t0001g0059 a0005c0010t0001g0024 a0005c0010t0001g0058 a0005c0010t0001g0070 a0005c0010t0001g0071 a0005c0014t0001g0025 a0005c0019t0001g0064 a0008c0007t0001g0014 a0018c0018t0001g0055	92	458	0.2009	15	c.-30 others(26): Show c.-3083_-3082insGTAATTTATTTAAAT		MMP27	ENSG00000137675.5	transcript	ENST00000260229.5	protein_coding					3028		chr11	TogoVar
MMP28_chr17_35760865_35800641	35786699	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	309	0.0032	15	c.112 others(32): Show c.112-7391_112-7377dupTTTTTTTTTTTTTTT		MMP28	ENSG00000271447.6	transcript	ENST00000605424.6	protein_coding	1/7						chr17	TogoVar
MMP2_chr16_55474198_55511691	55509991	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG03471.hp1 NA20300.hp2 HG02109.hp2 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0206 a0001c0001t0001g0287 a0001c0001t0001g0109 a0001c0001t0001g0206 a0001c0001t0001g0287	3	452	0.0066	15	c.45 others(26): Show c.4549_*4550insTTTTTTTTTTTTTTT		MMP2	ENSG00000087245.13	transcript	ENST00000219070.9	protein_coding					3301		chr16	TogoVar
MMP8_chr11_102706796_102729954	102708796	A A	AATTTAAA others(8): Show AATTTAAATAAATTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00558.hp2 others(90): Show HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp2 HG03942.hp2 HG04115.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18947.hp1 NA18950.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19079.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0010 a0015 a0017 a0019 a0021	a0001c0001 a0001c0025 a0002c0002 others(7): Show a0001c0001 a0001c0025 a0002c0002 a0002c0003 a0005c0007 a0010c0011 a0015c0028 a0017c0026 a0019c0016 a0021c0027	a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 others(9): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0001c0025t0003 a0002c0002t0003 a0002c0003t0003 a0005c0007t0009 a0010c0011t0011 a0015c0028t0012 a0017c0026t0003 a0019c0016t0012 a0021c0027t0003	a0001c0001t0003g0010 a0001c0001t0003g0019 a0001c0001t0003g0021 others(55): Show a0001c0001t0003g0010 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0123 a0001c0001t0003g0127 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0159 a0001c0001t0003g0180 a0001c0001t0006g0020 a0001c0001t0006g0022 a0001c0001t0006g0032 a0001c0001t0006g0146 a0001c0001t0006g0151 a0001c0001t0006g0153 a0001c0001t0006g0158 a0001c0001t0006g0160 a0001c0001t0019g0148 a0001c0025t0003g0141 a0002c0002t0003g0099 a0002c0002t0003g0107 a0002c0003t0003g0086 a0002c0003t0003g0087 a0002c0003t0003g0088 a0002c0003t0003g0089 a0005c0007t0009g0056 a0005c0007t0009g0163 a0005c0007t0009g0164 a0005c0007t0009g0165 a0010c0011t0011g0094 a0010c0011t0011g0095 a0010c0011t0011g0096 a0015c0028t0012g0199 a0017c0026t0003g0161 a0019c0016t0012g0118 a0021c0027t0003g0197	93	458	0.2031	15	c.45 others(26): Show c.4551_*4552insGTAATTTATTTAAAT		MMP8	ENSG00000118113.12	transcript	ENST00000236826.8	protein_coding					2999		chr11	TogoVar
MMP9_chr20_46003908_46021561	46010321	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp2 HG02486.hp2 HG02723.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0060 a0003c0004t0003g0061 a0003c0004t0003g0060 a0003c0004t0003g0061	2	420	0.0048	15	c.372 others(30): Show c.372-156_372-142dupAAAAAAAAAAAAAAA		MMP9	ENSG00000100985.7	transcript	ENST00000372330.3	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
MN1_chr22_27743277_27806756	27769552	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 NA18955.hp1 HG00140.hp2 HG00639.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0155 a0001c0001t0002g0202 a0001c0001t0003g0338 a0001c0001t0001g0155 a0001c0001t0002g0202 a0001c0001t0003g0338	3	394	0.0076	15	c.378 others(36): Show c.3782-18471_3782-18457dupAAAAAAAAAAAAAAA		MN1	ENSG00000169184.7	transcript	ENST00000302326.5	protein_coding	1/1						chr22	TogoVar
MNAT1_chr14_60729761_60974965	60869040	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	272	0.0037	15	c.688 others(34): Show c.688-10673_688-10672insATATATATATATATT		MNAT1	ENSG00000020426.11	transcript	ENST00000261245.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr14	TogoVar
MNAT1_chr14_60729761_60974965	60869041	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18973.hp2 NA18984.hp2 others(2): Show HG03139.hp2 NA18973.hp2 NA18984.hp2 NA18991.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0244 others(2): Show a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0244 a0001c0001t0002g0220 a0002c0003t0001g0236	5	272	0.0184	15	c.688 others(34): Show c.688-10673_688-10672insATATATATATATATA		MNAT1	ENSG00000020426.11	transcript	ENST00000261245.9	protein_coding	6/7						chr14	TogoVar
MNAT1_chr14_60729761_60974965	60929164	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	272	0.0037	15	c.810 others(34): Show c.810-39065_810-39064insTATATATATATATAT		MNAT1	ENSG00000020426.11	transcript	ENST00000261245.9	protein_coding	7/7						chr14	TogoVar
MNAT1_chr14_60729761_60974965	60930206	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	272	0.0037	15	c.810 others(34): Show c.810-37996_810-37982dupATTATTATTATTATT		MNAT1	ENSG00000020426.11	transcript	ENST00000261245.9	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr14	TogoVar
MND1_chr4_153339688_153420118	153381668	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	342	0.0029	15	c.277 others(34): Show c.277-12593_277-12579dupTATATATATATATAT		MND1	ENSG00000121211.8	transcript	ENST00000240488.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr4	TogoVar
MND1_chr4_153339688_153420118	153409370	C C	CTAATAAT others(8): Show CTAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02055.hp1 HG02145.hp1 others(10): Show HG00642.hp1 HG02055.hp1 HG02145.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02809.hp2 HG03139.hp2 HG03225.hp2 HG03579.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0295 a0001c0001t0002g0326 others(10): Show a0001c0001t0002g0014 a0001c0001t0002g0295 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336	13	342	0.0380	15	c.511 others(30): Show c.511+361_511+375dupATAATAATAATAATA		MND1	ENSG00000121211.8	transcript	ENST00000240488.8	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr4	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 NA19030.hp2 HG00438.hp2 HG00558.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0078 a0001c0001t0001g0091 a0002c0002t0002g0348 a0001c0001t0001g0078 a0001c0001t0001g0091 a0002c0002t0002g0348	3	414	0.0073	15	c.226 others(32): Show c.226-3489_226-3488insATATTTTTTTTTTTT		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9						chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	414	0.0024	15	c.226 others(32): Show c.226-3489_226-3488insATATATATTTTTTTT		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9						chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAATACAT others(8): Show AAATACATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	414	0.0024	15	c.226 others(32): Show c.226-3489_226-3488insATATATATATGTATT		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9						chr15	TogoVar
MNX1_chr7_156999854_157015663	157009949	A A	AGCGGCGG others(8): Show AGCGGCGGCGGCGGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02922.hp1 HG02976.hp2 HG02922.hp1 HG02976.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0038 a0005c0006t0001g0039 a0005c0006t0001g0038 a0005c0006t0001g0039	2	432	0.0046	15	c.387 others(22): Show c.387_401dupCGCCGCCGCCGCCGC	p.Ala others(13): Show p.Ala130_Ala134dup	MNX1	ENSG00000130675.15	transcript	ENST00000252971.11	protein_coding	1/3	714/2185	401/1206	134/401			chr7	TogoVar
MOB1B_chr4_70897369_70993168	70921481	T T	TCTCCCCT others(8): Show TCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01361.hp1 HG01891.hp2 others(9): Show HG00438.hp2 HG01361.hp1 HG01891.hp2 HG02027.hp2 HG02083.hp1 HG02723.hp1 HG03453.hp2 NA18968.hp1 NA18979.hp1 NA18983.hp2 NA19074.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0023	a0001c0001t0001g0054 a0001c0001t0001g0120 a0001c0001t0001g0128 others(9): Show a0001c0001t0001g0054 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0002g0042 a0001c0001t0018g0002 a0001c0001t0023g0003	12	284	0.0423	15	c.14+ others(32): Show c.14+18949_14+18963dupCCCCTCCCCTCCCCT		MOB1B	ENSG00000173542.9	transcript	ENST00000309395.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
MOB1B_chr4_70897369_70993168	70921482	C C	CTCCCCTC others(8): Show CTCCCCTCCCCTCCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19240.hp1 HG02886.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0265 a0001c0001t0011g0266 a0001c0001t0011g0265 a0001c0001t0011g0266	2	284	0.0070	15	c.14+ others(32): Show c.14+18946_14+18947insTTCCCCTCCCCTCCC		MOB1B	ENSG00000173542.9	transcript	ENST00000309395.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
MOB1B_chr4_70897369_70993168	70921499	C C	CCCCTCCC others(8): Show CCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02965.hp2 others(6): Show HG02615.hp2 HG02630.hp2 HG02965.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03579.hp1 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 others(6): Show a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0282	9	284	0.0317	15	c.14+ others(32): Show c.14+18954_14+18968dupCCCCTCCCCTTCCCT		MOB1B	ENSG00000173542.9	transcript	ENST00000309395.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
MOB3B_chr9_27320209_27534814	27357888	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02622.hp1 others(2): Show HG01167.hp1 HG01169.hp2 HG02622.hp1 HG03927.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0125 a0001c0001t0187 others(1): Show a0001c0001t0044 a0001c0001t0125 a0001c0001t0187 a0001c0001t0210	a0001c0001t0044g0247 a0001c0001t0044g0274 a0001c0001t0125g0216 others(2): Show a0001c0001t0044g0247 a0001c0001t0044g0274 a0001c0001t0125g0216 a0001c0001t0187g0144 a0001c0001t0210g0264	5	320	0.0156	15	c.621 others(32): Show c.621+1131_621+1145dupTTTTTTTTTTTTTTT		MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3						chr9	TogoVar
MOB3B_chr9_27320209_27534814	27365162	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00597.hp2 others(87): Show HG00099.hp2 HG00408.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02083.hp1 HG02165.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03704.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18953.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19064.hp1 NA19068.hp1 NA19074.hp1 NA19090.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(79): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0053 a0001c0001t0056 a0001c0001t0068 a0001c0001t0072 a0001c0001t0079 a0001c0001t0081 a0001c0001t0085 a0001c0001t0086 a0001c0001t0095 a0001c0001t0107 a0001c0001t0108 a0001c0001t0110 a0001c0001t0111 a0001c0001t0113 a0001c0001t0117 a0001c0001t0119 a0001c0001t0123 a0001c0001t0124 a0001c0001t0128 a0001c0001t0131 a0001c0001t0132 a0001c0001t0134 a0001c0001t0135 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0143 a0001c0001t0144 a0001c0001t0146 a0001c0001t0165 a0001c0001t0173 a0001c0001t0174 a0001c0001t0180 a0001c0001t0181 a0001c0001t0184 a0001c0001t0188 a0001c0001t0190 a0001c0001t0191 a0001c0001t0193 a0001c0001t0201 a0001c0001t0204 a0001c0001t0205 a0001c0001t0208 a0001c0001t0214 a0001c0001t0216 a0001c0001t0219 a0001c0001t0220 a0001c0001t0222 a0001c0001t0226 a0001c0001t0227 a0001c0001t0228 a0001c0002t0051 a0001c0002t0090 a0001c0002t0094 a0001c0002t0156 a0001c0003t0005 a0001c0003t0036 a0001c0003t0076 a0001c0003t0150	a0001c0001t0001g0158 a0001c0001t0001g0217 a0001c0001t0002g0182 others(87): Show a0001c0001t0001g0158 a0001c0001t0001g0217 a0001c0001t0002g0182 a0001c0001t0003g0254 a0001c0001t0003g0308 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0006g0073 a0001c0001t0007g0191 a0001c0001t0007g0192 a0001c0001t0008g0233 a0001c0001t0008g0236 a0001c0001t0009g0020 a0001c0001t0012g0309 a0001c0001t0013g0231 a0001c0001t0013g0249 a0001c0001t0014g0273 a0001c0001t0015g0250 a0001c0001t0017g0023 a0001c0001t0020g0201 a0001c0001t0022g0110 a0001c0001t0023g0184 a0001c0001t0032g0193 a0001c0001t0033g0161 a0001c0001t0034g0286 a0001c0001t0034g0306 a0001c0001t0037g0234 a0001c0001t0038g0296 a0001c0001t0041g0312 a0001c0001t0053g0015 a0001c0001t0056g0004 a0001c0001t0068g0019 a0001c0001t0072g0035 a0001c0001t0079g0067 a0001c0001t0081g0065 a0001c0001t0085g0040 a0001c0001t0086g0055 a0001c0001t0095g0081 a0001c0001t0107g0069 a0001c0001t0108g0062 a0001c0001t0110g0058 a0001c0001t0111g0071 a0001c0001t0113g0085 a0001c0001t0117g0048 a0001c0001t0119g0170 a0001c0001t0123g0215 a0001c0001t0124g0219 a0001c0001t0128g0140 a0001c0001t0131g0195 a0001c0001t0132g0137 a0001c0001t0134g0212 a0001c0001t0135g0154 a0001c0001t0137g0179 a0001c0001t0138g0127 a0001c0001t0139g0101 a0001c0001t0140g0176 a0001c0001t0141g0174 a0001c0001t0143g0160 a0001c0001t0144g0136 a0001c0001t0146g0105 a0001c0001t0165g0090 a0001c0001t0173g0162 a0001c0001t0174g0157 a0001c0001t0180g0146 a0001c0001t0181g0130 a0001c0001t0184g0098 a0001c0001t0188g0166 a0001c0001t0190g0142 a0001c0001t0191g0106 a0001c0001t0193g0223 a0001c0001t0201g0271 a0001c0001t0204g0301 a0001c0001t0205g0310 a0001c0001t0208g0307 a0001c0001t0214g0263 a0001c0001t0216g0242 a0001c0001t0219g0276 a0001c0001t0220g0253 a0001c0001t0222g0267 a0001c0001t0226g0228 a0001c0001t0227g0285 a0001c0001t0228g0290 a0001c0002t0051g0003 a0001c0002t0090g0057 a0001c0002t0094g0056 a0001c0002t0156g0181 a0001c0003t0005g0260 a0001c0003t0036g0259 a0001c0003t0076g0063 a0001c0003t0150g0133	90	320	0.2813	15	c.419 others(32): Show c.419-5927_419-5926insTTTTTTTTTTTTTTT		MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	2/3						chr9	TogoVar
MOB3B_chr9_27320209_27534814	27365165	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0043 a0001c0001t0088g0043	1	320	0.0031	15	c.419 others(32): Show c.419-5930_419-5929insCTTTTTTTTTTTTTT		MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	2/3						chr9	TogoVar
MOB3B_chr9_27320209_27534814	27418091	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01361.hp1 others(1): Show HG00099.hp2 HG00741.hp1 HG01361.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0090 a0001c0002t0091 others(1): Show a0001c0002t0010 a0001c0002t0090 a0001c0002t0091 a0001c0002t0156	a0001c0002t0010g0180 a0001c0002t0090g0057 a0001c0002t0091g0080 others(1): Show a0001c0002t0010g0180 a0001c0002t0090g0057 a0001c0002t0091g0080 a0001c0002t0156g0181	4	320	0.0125	15	c.418 others(34): Show c.418+37027_418+37041dupTTTTTTTTTTTTTTT		MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	2/3						chr9	TogoVar
MOB3B_chr9_27320209_27534814	27489741	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01928.hp2 HG01975.hp1 others(12): Show HG00423.hp1 HG01928.hp2 HG01975.hp1 HG02027.hp2 HG02257.hp2 HG02486.hp2 HG02976.hp1 HG03831.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA19068.hp2 NA19086.hp2 NA20752.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0005	a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 others(12): Show a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0031 a0001c0001t0033 a0001c0001t0062 a0001c0001t0095 a0001c0001t0098 a0001c0001t0105 a0001c0001t0143 a0001c0001t0163 a0001c0001t0169 a0001c0002t0091 a0001c0003t0168 a0003c0005t0030	a0001c0001t0011g0183 a0001c0001t0013g0303 a0001c0001t0019g0114 others(12): Show a0001c0001t0011g0183 a0001c0001t0013g0303 a0001c0001t0019g0114 a0001c0001t0031g0113 a0001c0001t0033g0161 a0001c0001t0062g0018 a0001c0001t0095g0081 a0001c0001t0098g0079 a0001c0001t0105g0036 a0001c0001t0143g0160 a0001c0001t0163g0126 a0001c0001t0169g0123 a0001c0002t0091g0080 a0001c0003t0168g0129 a0003c0005t0030g0096	15	320	0.0469	15	c.-19 others(36): Show c.-198-33994_-198-33993insAAAAAAAAAAAAAAA		MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	1/3						chr9	TogoVar
MOBP_chr3_39462680_39508027	39503658	T T	TTTTATTA others(8): Show TTTTATTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG01099.hp1 others(72): Show HG00558.hp1 HG00597.hp2 HG01099.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02896.hp2 HG02897.hp2 HG03471.hp1 HG03490.hp1 HG03704.hp2 HG03831.hp1 HG04228.hp1 NA18941.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18989.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19043.hp2 NA19055.hp2 NA19057.hp1 NA19064.hp2 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0056 others(52): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0086 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0256 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0002t0001g0055 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091	75	400	0.1875	15	c.77 others(24): Show c.778_*779insTTTATTATTTATTTA		MOBP	ENSG00000168314.19	transcript	ENST00000684792.1	protein_coding					632		chr3	TogoVar
MOCOS_chr18_36182497_36277157	36210850	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00621.hp2 others(20): Show HG00099.hp2 HG00323.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01978.hp2 HG02027.hp2 HG02723.hp2 HG04204.hp2 NA18950.hp2 NA18952.hp2 NA18965.hp1 NA18985.hp2 NA18994.hp2 NA18997.hp2 NA19010.hp2 NA19082.hp1 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0010 a0023	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0010c0014 a0023c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0044 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0027 a0004c0004t0004 a0010c0014t0035 a0023c0031t0026	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(20): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0002g0049 a0001c0001t0003g0175 a0001c0001t0004g0050 a0001c0001t0004g0068 a0001c0001t0005g0030 a0001c0001t0044g0005 a0002c0002t0001g0027 a0002c0002t0001g0036 a0002c0002t0001g0051 a0002c0002t0002g0025 a0002c0002t0002g0039 a0002c0002t0003g0009 a0002c0002t0003g0038 a0002c0002t0003g0053 a0002c0002t0027g0079 a0004c0004t0004g0033 a0004c0004t0004g0042 a0004c0004t0004g0058 a0010c0014t0035g0014 a0023c0031t0026g0037	23	358	0.0643	15	c.121 others(34): Show c.1219-2500_1219-2486dupAAAAAAAAAAAAAAA		MOCOS	ENSG00000075643.6	transcript	ENST00000261326.6	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr18	TogoVar
MOGAT1_chr2_222666658_222714930	222672889	T T	TTTTTTAT others(8): Show TTTTTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02647.hp1 others(1): Show HG02109.hp2 HG02145.hp1 HG02647.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 others(1): Show a0001c0001t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267	4	318	0.0126	15	c.94+ others(30): Show c.94+1012_94+1013insTTTATTATTATTATT		MOGAT1	ENSG00000124003.13	transcript	ENST00000446656.4	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
MOGAT1_chr2_222666658_222714930	222701299	G G	GAGAGAGA others(8): Show GAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA21309.hp2 HG02738.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0204 a0002c0002t0001g0152 a0001c0001t0001g0204 a0002c0002t0001g0152	2	318	0.0063	15	c.853 others(32): Show c.853+6011_853+6012insAGAGAGAGAGAGAGA		MOGAT1	ENSG00000124003.13	transcript	ENST00000446656.4	protein_coding	5/5						chr2	TogoVar
MOGAT2_chr11_75712838_75737953	75729390	T T	TCAGCCTC others(8): Show TCAGCCTCCTGAGTAG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0102 a0001c0001t0016g0102	1	418	0.0024	15	c.850 others(30): Show c.850+403_850+417dupAGCCTCCTGAGTAGC		MOGAT2	ENSG00000166391.15	transcript	ENST00000198801.10	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr11	TogoVar
MOK_chr14_102223836_102310164	102279284	C C	CGTTGTTG others(8): Show CGTTGTTGTTGTTGTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0249 a0002c0004t0002g0249	1	252	0.0040	15	c.122 others(32): Show c.122+4179_122+4193dupAACAACAACAACAAC		MOK	ENSG00000080823.23	transcript	ENST00000361847.7	protein_coding	2/11						chr14	TogoVar
MON1A_chr3_49903873_49934811	49920065	T T	TCTGCCGT others(8): Show TCTGCCGTAGCCTCTC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	262	0.0038	15	c.-13 others(32): Show c.-13-6721_-13-6707dupGAGAGGCTACGGCAG		MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	1/5						chr3	TogoVar
MON2_chr12_62461826_62605476	62469923	T T	TTTATTTA others(8): Show TTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04184.hp2 NA20752.hp2 HG02602.hp2 HG04184.hp2 NA20752.hp2	a0001 a0009 a0001 a0009	a0001c0005 a0009c0019 a0001c0005 a0009c0019	a0001c0005t0040 a0001c0005t0043 a0009c0019t0003 a0001c0005t0040 a0001c0005t0043 a0009c0019t0003	a0001c0005t0040g0135 a0001c0005t0043g0132 a0009c0019t0003g0133 a0001c0005t0040g0135 a0001c0005t0043g0132 a0009c0019t0003g0133	3	368	0.0082	15	c.111 others(32): Show c.111+2607_111+2608insATTTATTTATTTATT		MON2	ENSG00000061987.16	transcript	ENST00000393630.8	protein_coding	1/34					INFO_REALIGN_3_PRIME	chr12	TogoVar

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