Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
MMP17_chr12_131823393_131856771	131827365	G G	GGGGAGGG others(11): Show GGGGAGGGGGGGGTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0263 a0002c0002t0001g0263	1	398	0.0025	18	c.-11 others(29): Show c.-1130_-1129insGGGAGGGGGGGGTGGGGT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1027		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827366	G G	GGGAGGGG others(11): Show GGGAGGGGGGGGGTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 NA18978.hp1 HG00544.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0251 a0001c0003t0003g0002 a0001c0001t0001g0251 a0001c0003t0003g0002	2	398	0.0050	18	c.-11 others(29): Show c.-1129_-1128insGGAGGGGGGGGGTGGGGT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1026		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827366	G G	GGGGGGGG others(11): Show GGGGGGGGGGGGGTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	1	398	0.0025	18	c.-11 others(29): Show c.-1129_-1128insGGGGGGGGGGGGTGGGGT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1026		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827367	G G	GGGGGGGG others(11): Show GGGGGGGGGGGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0159 a0002c0002t0002g0159	1	398	0.0025	18	c.-11 others(29): Show c.-1128_-1127insGGGGGGGGGGGGGGGGGT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1025		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827367	G G	GGGGGGGG others(11): Show GGGGGGGGGGGGGGGGGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0024 a0004c0005t0001g0024	1	398	0.0025	18	c.-11 others(29): Show c.-1128_-1127insGGGGGGGGGGGGGGGGTT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1025		chr12	TogoVar
MMP17_chr12_131823393_131856771	131848553	T T	TGAAACAC others(11): Show TGAAACACGGATGCCCCGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02976.hp2 HG03540.hp2 others(1): Show HG02965.hp1 HG02976.hp2 HG03540.hp2 HG06807.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0017 a0005c0004t0001g0044 a0005c0004t0001g0087 a0005c0004t0001g0017 a0005c0004t0001g0044 a0005c0004t0001g0087	4	398	0.0101	18	c.120 others(37): Show c.1205-1248_1205-1231dupGAAACACGGATGCCCCGC		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
MMP17_chr12_131823393_131856771	131853475	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0276 a0006c0008t0001g0276	1	398	0.0025	18	c.22 others(29): Show c.2201_*2202insTTTTTTTTTTTTTTTTTT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1705		chr12	TogoVar
MMP20_chr11_102571832_102630332	102629485	T T	TATATATA others(11): Show TATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG04184.hp2 HG04204.hp2 others(2): Show HG01346.hp1 HG04184.hp2 HG04204.hp2 NA20300.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0003c0003t0001 a0001c0001t0001 a0001c0001t0004 a0003c0003t0001	a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0004g0356 others(2): Show a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0004g0356 a0003c0003t0001g0172 a0003c0003t0001g0173	5	446	0.0112	18	c.-41 others(29): Show c.-4167_-4166insGTATATATATATATATAT		MMP20	ENSG00000137674.4	transcript	ENST00000260228.3	protein_coding					4154		chr11	TogoVar
MMP24OS_chr20_35271352_35283122	35277779	C C	CGGGCTCG others(11): Show CGGGCTCGGGCTGGGGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03471.hp2 HG03471.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0004 a0011c0011t0004	a0011c0011t0004g0036 a0011c0011t0004g0036	1	374	0.0027	18	c.150 others(25): Show c.150_151insCAGCCCCAGCCCGAGCCC	p.Pro others(29): Show p.Pro50_Glu51insGlnProGlnProGluPro	MMP24OS	ENSG00000126005.17	transcript	ENST00000456790.2	protein_coding	2/2	267/1695	150/216	50/71			chr20	TogoVar
MMP24OS_chr20_35271352_35283122	35277779	C C	CGGGCTGG others(11): Show CGGGCTGGGGCTGGGGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01123.hp2 HG01123.hp2	a0012 a0012	a0012c0010 a0012c0010	a0012c0010t0001 a0012c0010t0001	a0012c0010t0001g0020 a0012c0010t0001g0020	1	374	0.0027	18	c.133 others(25): Show c.133_150dupCAGCCCCAGCCCCAGCCC	p.Pro others(29): Show p.Pro50_Glu51insGlnProGlnProGlnPro	MMP24OS	ENSG00000126005.17	transcript	ENST00000456790.2	protein_coding	2/2	267/1695	150/216	50/71			chr20	TogoVar
MMP24_chr20_35221690_35281998	35223330	T T	TATAATAA others(11): Show TATAATAATAATAATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01167.hp2 HG01169.hp1 others(9): Show HG00738.hp1 HG01167.hp2 HG01169.hp1 HG02055.hp1 HG02080.hp2 HG02622.hp1 HG03195.hp1 HG03453.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0002g0061 a0001c0001t0002g0069 a0001c0001t0002g0070 others(9): Show a0001c0001t0002g0061 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0292 a0001c0001t0003g0105 a0001c0003t0002g0006 a0001c0003t0002g0058 a0001c0003t0002g0059 a0001c0003t0002g0060	12	320	0.0375	18	c.-34 others(29): Show c.-3409_-3408insATAATAATAATAATAATA		MMP24	ENSG00000125966.10	transcript	ENST00000246186.8	protein_coding					3359		chr20	TogoVar
MMP24_chr20_35221690_35281998	35277779	C C	CGGGCTCG others(11): Show CGGGCTCGGGCTGGGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0273 a0001c0001t0012g0273	1	320	0.0031	18	c.31 others(29): Show c.3170_*3171insGGGCTCGGGCTGGGGCTG		MMP24	ENSG00000125966.10	transcript	ENST00000246186.8	protein_coding					782		chr20	TogoVar
MMP24_chr20_35221690_35281998	35277779	C C	CGGGCTGG others(11): Show CGGGCTGGGGCTGGGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	320	0.0031	18	c.31 others(29): Show c.3170_*3171insGGGCTGGGGCTGGGGCTG		MMP24	ENSG00000125966.10	transcript	ENST00000246186.8	protein_coding					782		chr20	TogoVar
MMP26_chr11_4699784_4997429	4730404	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp2 HG02630.hp1 others(2): Show HG00642.hp2 HG01099.hp2 HG02630.hp1 HG02647.hp2 HG02896.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0005 a0001c0001 a0002c0002 a0006c0005	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0006c0005t0001	a0001c0001t0001g0092 a0001c0001t0001g0126 a0001c0001t0003g0197 others(2): Show a0001c0001t0001g0092 a0001c0001t0001g0126 a0001c0001t0003g0197 a0002c0002t0001g0153 a0006c0005t0001g0150	5	206	0.0243	18	c.-21 others(39): Show c.-217+25368_-217+25385dupAGAGAGAGAGAGAGAGAG		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4764874	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	206	0.0049	18	c.-21 others(37): Show c.-216-2392_-216-2391insCACACACACACACACACA		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4907095	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02080.hp2 HG02155.hp2 others(11): Show HG01175.hp2 HG02080.hp2 HG02155.hp2 HG02523.hp1 HG02615.hp2 HG02976.hp1 HG03471.hp2 NA18942.hp1 NA18944.hp1 NA18954.hp2 NA18977.hp1 NA19011.hp1 NA19070.hp1 NA19070.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0024 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0130 a0001c0001t0001g0161 a0001c0001t0002g0005 a0001c0001t0005g0002 a0002c0002t0001g0062 a0002c0002t0001g0090 a0002c0002t0001g0098 a0003c0003t0001g0156	14	206	0.0680	18	c.-14 others(39): Show c.-144-80970_-144-80953dupAAAAAAAAAAAAAAAAAA		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4942089	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp1 HG01258.hp1 others(6): Show HG00738.hp1 HG01175.hp1 HG01258.hp1 HG01361.hp2 HG02071.hp1 HG02451.hp2 HG02559.hp1 HG03942.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0037 others(6): Show a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0066 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0192 a0002c0002t0001g0147	9	206	0.0437	18	c.-14 others(39): Show c.-144-45975_-144-45958dupAAAAAAAAAAAAAAAAAA		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4986912	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03139.hp2 HG02109.hp1 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0142 a0003c0003t0001g0200 a0001c0001t0001g0142 a0003c0003t0001g0200	2	206	0.0097	18	c.-14 others(37): Show c.-144-1139_-144-1138insCCTCTCTCTCTCTCTCTC		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4986920	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01496.hp2 HG01358.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0073 a0001c0001t0002g0006 a0001c0001t0001g0073 a0001c0001t0002g0006	2	206	0.0097	18	c.-14 others(37): Show c.-144-1137_-144-1136insTCTCTCCCTCTCTCTCTC		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4986922	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG02559.hp2 others(2): Show HG01256.hp1 HG01258.hp1 HG02559.hp2 HG02572.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0108 a0001c0001t0001g0109 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0160 a0001c0001t0001g0167	5	206	0.0243	18	c.-14 others(37): Show c.-144-1137_-144-1136insTCTCTCTCCCTCTCTCTC		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4986926	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp1 HG00099.hp2 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0120 a0001c0001t0001g0078 a0001c0001t0001g0120	2	206	0.0097	18	c.-14 others(37): Show c.-144-1137_-144-1136insTCTCTCTCTCTCCCTCTC		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4986940	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19030.hp1 HG03098.hp2 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0177 a0003c0003t0001g0183 a0003c0003t0001g0177 a0003c0003t0001g0183	2	206	0.0097	18	c.-14 others(37): Show c.-144-1111_-144-1110insCCTCTCTCTCTCTCTCTC		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP2_chr16_55474198_55511691	55500494	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG00738.hp1 others(15): Show HG00099.hp1 HG00735.hp2 HG00738.hp1 HG01109.hp1 HG02258.hp2 HG02273.hp1 HG03098.hp1 HG03579.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18998.hp1 NA19060.hp1 NA19063.hp2 NA19074.hp1 NA19076.hp2 NA19082.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0001c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0004 a0001c0006t0003 a0001c0010t0001 a0001c0011t0002	a0001c0001t0001g0030 a0001c0001t0001g0150 a0001c0001t0001g0174 others(14): Show a0001c0001t0001g0030 a0001c0001t0001g0150 a0001c0001t0001g0174 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0277 a0001c0002t0001g0209 a0001c0002t0001g0338 a0001c0002t0001g0346 a0001c0002t0003g0064 a0001c0002t0003g0103 a0001c0003t0004g0314 a0001c0006t0003g0317 a0001c0010t0001g0230 a0001c0011t0002g0238	18	452	0.0398	18	c.176 others(37): Show c.1769+2074_1769+2091dupCACACACACACACACACA		MMP2	ENSG00000087245.13	transcript	ENST00000219070.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
MMP8_chr11_102706796_102729954	102714762	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	458	0.0022	18	c.103 others(33): Show c.1037-71_1037-54dupTATATATATATATATATA		MMP8	ENSG00000118113.12	transcript	ENST00000236826.8	protein_coding	7/9						chr11	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(11): Show CACACACACATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0252 a0005c0008t0001g0252	1	382	0.0026	18	c.54 others(29): Show c.5444_*5445insATATATATATGTGTGTGT		MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding					4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(11): Show CACACACATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0010 a0002c0001t0001g0010	1	382	0.0026	18	c.54 others(29): Show c.5444_*5445insATATATATATATGTGTGT		MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding					4241		chr10	TogoVar
MMS19_chr10_97453324_97503422	97486861	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0094 a0004c0005t0001g0094	1	372	0.0027	18	c.113 others(35): Show c.113-2711_113-2710insTATATATATATATATATA		MMS19	ENSG00000155229.21	transcript	ENST00000438925.7	protein_coding	1/30						chr10	TogoVar
MMS19_chr10_97453324_97503422	97486862	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01106.hp1 others(5): Show HG00639.hp1 HG00639.hp2 HG01106.hp1 HG01361.hp1 HG01496.hp1 HG02735.hp2 NA18951.hp2 NA19002.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0001c0001t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0051 a0002c0002t0001g0018 a0002c0002t0001g0150 others(4): Show a0001c0001t0001g0051 a0002c0002t0001g0018 a0002c0002t0001g0150 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0004c0005t0001g0111	8	372	0.0215	18	c.113 others(35): Show c.113-2729_113-2712dupATATATATATATATATAT		MMS19	ENSG00000155229.21	transcript	ENST00000438925.7	protein_coding	1/30						chr10	TogoVar
MMS19_chr10_97453324_97503422	97486862	C C	CCTATATA others(11): Show CCTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0290 a0006c0007t0001g0290	1	372	0.0027	18	c.113 others(35): Show c.113-2712_113-2711insATATATATATATATATAG		MMS19	ENSG00000155229.21	transcript	ENST00000438925.7	protein_coding	1/30						chr10	TogoVar
MMUT_chr6_49425360_49468253	49430251	C C	CACACACA others(11): Show CACACACACACACACACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0137 a0003c0007t0003g0137	1	372	0.0027	18	c.14 others(29): Show c.1476_*1477insTTGTGTGTGTGTGTGTGT		MMUT	ENSG00000146085.8	transcript	ENST00000274813.4	protein_coding					108		chr6	TogoVar
MN1_chr22_27743277_27806756	27799618	T T	TGCTGCTG others(11): Show TGCTGCTGCTGCTGCTGGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG04115.hp1 HG04115.hp1	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0032 a0007c0025t0032	a0007c0025t0032g0372 a0007c0025t0032g0372	1	394	0.0025	18	c.908 others(25): Show c.908_925dupCCCAGCAGCAGCAGCAGC	p.Pro others(13): Show p.Pro303_Gln308dup	MN1	ENSG00000169184.7	transcript	ENST00000302326.5	protein_coding	1/2	2138/7814	925/3963	309/1320			chr22	TogoVar
MNAT1_chr14_60729761_60974965	60834923	C C	CTTCCTTC others(11): Show CTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	272	0.0037	18	c.687 others(37): Show c.687+16076_687+16077insTTCCTTCCTTCCTTCCTT		MNAT1	ENSG00000020426.11	transcript	ENST00000261245.9	protein_coding	6/7						chr14	TogoVar
MNAT1_chr14_60729761_60974965	60869023	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA19006.hp2 NA19054.hp1 HG03239.hp2 NA19006.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0179 a0001c0001t0001g0217 a0001c0001t0006g0221 a0001c0001t0001g0179 a0001c0001t0001g0217 a0001c0001t0006g0221	3	272	0.0110	18	c.688 others(37): Show c.688-10690_688-10673dupATATATATATATATATAT		MNAT1	ENSG00000020426.11	transcript	ENST00000261245.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr14	TogoVar
MNAT1_chr14_60729761_60974965	60869040	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	272	0.0037	18	c.688 others(37): Show c.688-10673_688-10672insATATATATATATATTTTT		MNAT1	ENSG00000020426.11	transcript	ENST00000261245.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr14	TogoVar
MNAT1_chr14_60729761_60974965	60918735	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	272	0.0037	18	c.809 others(37): Show c.809+38905_809+38922dupATATATATATATATATAT		MNAT1	ENSG00000020426.11	transcript	ENST00000261245.9	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr14	TogoVar
MND1_chr4_153339688_153420118	153381667	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03688.hp1 HG01081.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0037 a0001c0001t0001g0051	2	342	0.0059	18	c.277 others(37): Show c.277-12586_277-12569dupATATATATATATATATAT		MND1	ENSG00000121211.8	transcript	ENST00000240488.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr4	TogoVar
MND1_chr4_153339688_153420118	153391727	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01081.hp1 others(24): Show HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01261.hp2 HG01496.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02572.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG03130.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03831.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp2 NA18954.hp1 NA19058.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0003c0005t0002	a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0095 others(24): Show a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0002g0242 a0001c0001t0002g0284 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0329 a0001c0001t0002g0331 a0001c0001t0002g0334 a0001c0001t0002g0336 a0001c0001t0003g0048 a0001c0002t0003g0090 a0001c0002t0003g0116 a0001c0002t0003g0118 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0128 a0001c0002t0003g0130 a0001c0002t0003g0131 a0003c0005t0002g0254	27	342	0.0790	18	c.277 others(35): Show c.277-2529_277-2512dupCACACACACACACACACA		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(11): Show CTAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG01256.hp1 others(28): Show HG00408.hp2 HG00597.hp1 HG01256.hp1 HG01496.hp2 HG01516.hp1 HG02040.hp2 HG02109.hp2 HG02148.hp1 HG02922.hp1 HG03486.hp2 HG03927.hp2 HG04204.hp2 NA18747.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18957.hp1 NA18963.hp1 NA18970.hp2 NA18979.hp1 NA18981.hp2 NA18987.hp2 NA18991.hp1 NA18998.hp1 NA19002.hp2 NA19007.hp1 NA19043.hp1 NA19078.hp2 NA19082.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0002 a0001c0001t0002 a0002c0004t0002	a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0112 others(28): Show a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0279 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0296 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0318 a0001c0001t0002g0320 a0002c0004t0002g0273 a0002c0004t0002g0290 a0002c0004t0002g0291 a0002c0004t0002g0292	31	342	0.0906	18	c.511 others(33): Show c.511+358_511+375dupATAATAATAATAATAATA		MND1	ENSG00000121211.8	transcript	ENST00000240488.8	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr4	TogoVar
MNS1_chr15_56423724_56470137	56426626	T T	TATATATA others(11): Show TATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	414	0.0024	18	c.24 others(29): Show c.2474_*2475insGTGTGTATATATATATAT		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding					2097		chr15	TogoVar
MNS1_chr15_56423724_56470137	56426626	T T	TATATATA others(11): Show TATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	414	0.0024	18	c.24 others(29): Show c.2474_*2475insGTGTATATATATATATAT		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding					2097		chr15	TogoVar
MNS1_chr15_56423724_56470137	56426626	T T	TATATATA others(11): Show TATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	414	0.0024	18	c.24 others(29): Show c.2474_*2475insGTATATATATATATATAT		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding					2097		chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0114	1	414	0.0024	18	c.226 others(35): Show c.226-3489_226-3488insATATATTTTTTTTTTTTT		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9						chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19068.hp2 HG03195.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0070 a0002c0002t0001g0111 a0001c0001t0001g0070 a0002c0002t0001g0111	2	414	0.0048	18	c.226 others(35): Show c.226-3489_226-3488insATATATATTTTTTTTTTT		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9						chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	414	0.0024	18	c.226 others(35): Show c.226-3489_226-3488insATATATATATTTTTTTTT		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9						chr15	TogoVar
MNT_chr17_2379073_2406060	2394273	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03486.hp1 NA19010.hp2 others(1): Show HG01884.hp2 HG03486.hp1 NA19010.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0037 a0001c0001t0042 a0001c0001t0001 a0001c0001t0037 a0001c0001t0042	a0001c0001t0001g0149 a0001c0001t0001g0247 a0001c0001t0037g0150 others(1): Show a0001c0001t0001g0149 a0001c0001t0001g0247 a0001c0001t0037g0150 a0001c0001t0042g0151	4	444	0.0090	18	c.695 others(31): Show c.695+31_695+32insTGTGTGTGTGTGTGTGTG		MNT	ENSG00000070444.15	transcript	ENST00000174618.5	protein_coding	3/5						chr17	TogoVar
MNT_chr17_2379073_2406060	2394277	G G	GCACGCAC others(11): Show GCACGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02015.hp1 HG02071.hp1 others(1): Show HG01943.hp1 HG02015.hp1 HG02071.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0033 a0002c0002t0003 a0002c0002t0033	a0002c0002t0003g0060 a0002c0002t0003g0273 a0002c0002t0033g0282 a0002c0002t0003g0060 a0002c0002t0003g0273 a0002c0002t0033g0282	4	444	0.0090	18	c.695 others(31): Show c.695+27_695+28insTGTGTGTGTGTGTGCGTG		MNT	ENSG00000070444.15	transcript	ENST00000174618.5	protein_coding	3/5						chr17	TogoVar
MNT_chr17_2379073_2406060	2394277	G G	GCACGCGC others(11): Show GCACGCGCACACACACACA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0269 a0002c0002t0003g0269	1	444	0.0023	18	c.695 others(31): Show c.695+27_695+28insTGTGTGTGTGTGCGCGTG		MNT	ENSG00000070444.15	transcript	ENST00000174618.5	protein_coding	3/5						chr17	TogoVar
MNT_chr17_2379073_2406060	2394277	G G	GCGCACAC others(11): Show GCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0102 a0001c0001t0013g0102	1	444	0.0023	18	c.695 others(31): Show c.695+27_695+28insTGTGTGTGTGTGTGTGCG		MNT	ENSG00000070444.15	transcript	ENST00000174618.5	protein_coding	3/5						chr17	TogoVar
MOB1B_chr4_70897369_70993168	70976753	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0002 a0001c0001t0018g0002	1	284	0.0035	18	c.409 others(35): Show c.409+1472_409+1489dupATATATATATATATATAT		MOB1B	ENSG00000173542.9	transcript	ENST00000309395.7	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
MOB1B_chr4_70897369_70993168	70976758	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp1 NA19043.hp1 HG02559.hp1 HG03195.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0276 a0001c0001t0007g0279 a0001c0001t0007g0280 a0001c0001t0007g0276 a0001c0001t0007g0279 a0001c0001t0007g0280	3	284	0.0106	18	c.409 others(35): Show c.409+1489_409+1490insTTATATATATATATATAT		MOB1B	ENSG00000173542.9	transcript	ENST00000309395.7	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr4	TogoVar

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