Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MLLT10_chr10_21529232_21748630	21712203	C C	CATTTATT others(21): Show CATTTATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	192	0.0052	28	c.170 others(47): Show c.1700-1549_1700-1548insATTTATTTATTTATTTATTTATTTAT TT	MLLT10	ENSG00000078403.17	transcript	ENST00000307729.12	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
MLPH_chr2_237482251_237560322	237485052	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0109 a0001c0035t0001g0109	1	286	0.0035	28	c.-24 others(39): Show c.-2410_-2409insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding		2198		chr2	TogoVar
MLPH_chr2_237482251_237560322	237524302	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02922.hp1 others(11): Show HG02055.hp1 HG02572.hp2 HG02922.hp1 HG02965.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp2 NA18522.hp2 NA19003.hp2 NA19079.hp2 NA19081.hp1 NA19091.hp2 NA19240.hp2	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0006 a0007 a0009 a0012	a0002c0008 a0003c0003 a0004c0005 others(4): Show a0002c0008 a0003c0003 a0004c0005 a0006c0006 a0007c0007 a0009c0009 a0012c0013	a0002c0008t0002 a0002c0008t0003 a0003c0003t0001 others(7): Show a0002c0008t0002 a0002c0008t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0004c0005t0001 a0006c0006t0003 a0007c0007t0002 a0009c0009t0002 a0012c0013t0001	a0002c0008t0002g0093 a0002c0008t0003g0231 a0003c0003t0001g0108 others(11): Show a0002c0008t0002g0093 a0002c0008t0003g0231 a0003c0003t0001g0108 a0003c0003t0002g0262 a0003c0003t0005g0265 a0004c0005t0001g0188 a0006c0006t0003g0116 a0006c0006t0003g0119 a0007c0007t0002g0029 a0007c0007t0002g0030 a0007c0007t0002g0034 a0009c0009t0002g0121 a0009c0009t0002g0122 a0012c0013t0001g0074	14	286	0.0490	28	c.676 others(45): Show c.676-1280_676-1279insTATATATATATATATATATATATATATA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLXIPL_chr7_73588202_73629522	73589196	A A	ATTAATAT others(21): Show ATTAATATAAAAATAAAATATATTTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02886.hp2 others(5): Show HG02451.hp2 HG02615.hp2 HG02886.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03516.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0002 a0001c0001t0001 a0001c0006t0002	a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0142 others(5): Show a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0006t0002g0012 a0001c0006t0002g0094	8	276	0.0290	28	c.46 others(39): Show c.4668_*4669insATATAAATATATTTTATTTTTATATTAA	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding		4005		chr7	TogoVar
MLXIPL_chr7_73588202_73629522	73602126	G G	GCCTTCCT others(21): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03704.hp2 HG02735.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0032 a0001c0009t0001g0095 a0001c0001t0001g0032 a0001c0009t0001g0095	2	276	0.0073	28	c.902 others(45): Show c.902-2432_902-2431insAAGGAAGGAAGGAAGGAAGGAAGGAAGG	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding	7/16			chr7	TogoVar
MLXIPL_chr7_73588202_73629522	73602130	G G	GCCTGCCT others(21): Show GCCTGCCTGCCTGCCTGCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0173 a0001c0008t0001g0173	1	276	0.0036	28	c.902 others(45): Show c.902-2436_902-2435insAAGGAAGGAAGGCAGGCAGGCAGGCAGG	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding	7/16			chr7	TogoVar
MLXIPL_chr7_73588202_73629522	73602130	G G	GCCTGCCT others(21): Show GCCTGCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03710.hp1 HG01074.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0144 a0001c0001t0001g0126 a0001c0001t0001g0144	2	276	0.0073	28	c.902 others(45): Show c.902-2436_902-2435insAAGGAAGGAAGGAAGGAAGGAAGGCAGG	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding	7/16			chr7	TogoVar
MLXIPL_chr7_73588202_73629522	73602130	G G	GCCTTCCT others(21): Show GCCTTCCTGCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19043.hp1 HG03209.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0100 a0001c0001t0001g0101	2	276	0.0073	28	c.902 others(45): Show c.902-2436_902-2435insAAGGAAGGAAGGAAGGAAGGCAGGAAGG	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding	7/16			chr7	TogoVar
MLXIPL_chr7_73588202_73629522	73602130	G G	GCCTTCCT others(21): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00639.hp2 others(28): Show HG00408.hp1 HG00558.hp1 HG00639.hp2 HG01081.hp1 HG01175.hp2 HG01346.hp1 HG01346.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02109.hp1 HG02647.hp2 HG02683.hp2 HG02886.hp2 HG03239.hp1 HG03239.hp2 NA18950.hp1 NA18952.hp2 NA18959.hp1 NA18969.hp2 NA18983.hp2 NA18985.hp2 NA19005.hp2 NA19057.hp1 NA19068.hp1 NA19091.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0041 others(28): Show a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0248	31	276	0.1123	28	c.902 others(45): Show c.902-2463_902-2436dupAAGGAAGGAAGGAAGGAAGGAAGGAAGG	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding	7/16			chr7	TogoVar
MLXIP_chr12_122073756_122152344	122121010	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03017.hp1 HG02027.hp2 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0010 a0002c0002t0002 a0002c0002t0010	a0002c0002t0002g0222 a0002c0002t0010g0017 a0002c0002t0002g0222 a0002c0002t0010g0017	2	354	0.0057	28	c.414 others(45): Show c.414-6228_414-6227insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
MMACHC_chr1_45495300_45518382	45515598	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0020	1	386	0.0026	28	c.63 others(39): Show c.6383_*6384insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2217		chr1	TogoVar
MME_chr3_155075319_155188704	155133062	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01256.hp1 HG01261.hp1 others(2): Show HG01192.hp1 HG01256.hp1 HG01261.hp1 HG03516.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0084 a0001c0001t0001g0304 a0001c0001t0002g0240 others(2): Show a0001c0001t0001g0084 a0001c0001t0001g0304 a0001c0001t0002g0240 a0001c0001t0005g0040 a0001c0001t0006g0305	5	336	0.0149	28	c.721 others(45): Show c.721-5039_721-5038insAATATATATATATATATATATATATATA	MME	ENSG00000196549.13	transcript	ENST00000360490.7	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
MMP17_chr12_131823393_131856771	131827366	G G	GGGGGGGG others(21): Show GGGGGGGGGGGGGAGGGGGGGGGTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0277 a0001c0004t0001g0277	1	398	0.0025	28	c.-11 others(39): Show c.-1129_-1128insGGGGGGGGGGGGAGGGGGGGGGTGGGGT	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		1026		chr12	TogoVar
MMP19_chr12_55830433_55847936	55846469	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	414	0.0024	28	c.-36 others(39): Show c.-3640_-3639insTATATATATATATATATATATATATACA	MMP19	ENSG00000123342.16	transcript	ENST00000322569.9	protein_coding		3534		chr12	TogoVar
MMP19_chr12_55830433_55847936	55846469	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0070 a0001c0001t0007g0070	1	414	0.0024	28	c.-36 others(39): Show c.-3640_-3639insTATATATATATATATATATATATACACA	MMP19	ENSG00000123342.16	transcript	ENST00000322569.9	protein_coding		3534		chr12	TogoVar
MMP19_chr12_55830433_55847936	55846469	G G	GTGTGTGT others(21): Show GTGTGTGTGTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG03834.hp2 HG02683.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0006 a0001c0001t0001g0009	2	414	0.0048	28	c.-36 others(39): Show c.-3640_-3639insTATATATATATATATATATACACACACA	MMP19	ENSG00000123342.16	transcript	ENST00000322569.9	protein_coding		3534		chr12	TogoVar
MMP20_chr11_102571832_102630332	102629485	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(70): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00642.hp1 HG00735.hp1 HG01099.hp1 HG01123.hp1 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02630.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG03195.hp1 HG03239.hp2 HG03490.hp1 HG03654.hp1 HG03688.hp2 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18962.hp1 NA18967.hp1 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18987.hp1 NA18988.hp2 NA18991.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19068.hp2 NA19072.hp1 NA19075.hp2 NA19076.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19088.hp2 NA20905.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0015 a0017	a0001c0001 a0001c0022 a0003c0003 others(4): Show a0001c0001 a0001c0022 a0003c0003 a0004c0004 a0007c0009 a0015c0013 a0017c0017	a0001c0001t0001 a0001c0022t0001 a0003c0003t0001 others(4): Show a0001c0001t0001 a0001c0022t0001 a0003c0003t0001 a0004c0004t0001 a0007c0009t0001 a0015c0013t0001 a0017c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0029 others(63): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0372 a0001c0022t0001g0376 a0003c0003t0001g0001 a0003c0003t0001g0009 a0003c0003t0001g0010 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0197 a0003c0003t0001g0199 a0003c0003t0001g0204 a0003c0003t0001g0206 a0003c0003t0001g0209 a0003c0003t0001g0212 a0003c0003t0001g0218 a0003c0003t0001g0254 a0004c0004t0001g0027 a0004c0004t0001g0175 a0004c0004t0001g0177 a0004c0004t0001g0179 a0004c0004t0001g0216 a0007c0009t0001g0243 a0015c0013t0001g0168 a0017c0017t0001g0215	73	446	0.1637	28	c.-41 others(39): Show c.-4167_-4166insGTATATATATATATATATATATATATAT	MMP20	ENSG00000137674.4	transcript	ENST00000260228.3	protein_coding		4154		chr11	TogoVar
MMP26_chr11_4699784_4997429	4730404	A A	AAGAGAGA others(21): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	206	0.0049	28	c.-21 others(49): Show c.-217+25385_-217+25386insAGAGAGAGAGAGAGAGAGAGAGAG AGAG	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4942089	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03471.hp2 HG00140.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0114 a0003c0003t0001g0156 a0001c0001t0001g0114 a0003c0003t0001g0156	2	206	0.0097	28	c.-14 others(49): Show c.-144-45958_-144-45957insAAAAAAAAAAAAAAAAAAAAAAAA AAAA	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4986936	T T	TCTCTCTC others(21): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02559.hp1 NA18943.hp1 others(1): Show HG02523.hp1 HG02559.hp1 NA18943.hp1 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0090 a0002c0002t0001g0147 others(1): Show a0002c0002t0001g0062 a0002c0002t0001g0090 a0002c0002t0001g0147 a0002c0002t0001g0174	4	206	0.0194	28	c.-14 others(47): Show c.-144-1109_-144-1108insTCTCCCTCTCTCTCTCTCTCTCTCTC TC	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4996721	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0193	1	206	0.0049	28	c.44 others(39): Show c.4479_*4480insTTTCTTTCTTTCTTTCTTTCTTTCTTTC	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding		4293		chr11	TogoVar
MMP28_chr17_35760865_35800641	35786699	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0248 a0001c0003t0001g0248	1	309	0.0032	28	c.112 others(45): Show c.112-7377_112-7376insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MMP28	ENSG00000271447.6	transcript	ENST00000605424.6	protein_coding	1/7			chr17	TogoVar
MMP2_chr16_55474198_55511691	55500494	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18981.hp1 NA19083.hp2 NA18966.hp1 NA18981.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0173 a0001c0001t0001g0326 a0001c0005t0001g0255 a0001c0001t0001g0173 a0001c0001t0001g0326 a0001c0005t0001g0255	3	452	0.0066	28	c.176 others(47): Show c.1769+2064_1769+2091dupCACACACACACACACACACACACACA CA	MMP2	ENSG00000087245.13	transcript	ENST00000219070.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
MMP9_chr20_46003908_46021561	46010321	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0072 a0004c0004t0001g0072	1	420	0.0024	28	c.372 others(43): Show c.372-142_372-141insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MMP9	ENSG00000100985.7	transcript	ENST00000372330.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(21): Show CACACACACACACATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0037 a0001c0003t0001g0037	1	382	0.0026	28	c.54 others(39): Show c.5444_*5445insATATATATATATATATGTGTGTGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(21): Show CACACACACACATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA19007.hp2 NA18960.hp2 NA19007.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0060 a0002c0001t0001g0061 a0002c0001t0001g0060 a0002c0001t0001g0061	2	382	0.0052	28	c.54 others(39): Show c.5444_*5445insATATATATATATATATATGTGTGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACATA others(21): Show CACACATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0194 a0001c0003t0001g0194	1	382	0.0026	28	c.54 others(39): Show c.5444_*5445insATATATATATATATATATATATATGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMS19_chr10_97453324_97503422	97486862	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp2 NA18969.hp2 others(2): Show HG04228.hp1 HG04228.hp2 NA18969.hp2 NA18999.hp2 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0157 a0002c0002t0001g0142 a0002c0002t0001g0152 others(2): Show a0001c0001t0001g0157 a0002c0002t0001g0142 a0002c0002t0001g0152 a0002c0002t0001g0164 a0002c0002t0001g0165	5	372	0.0134	28	c.113 others(45): Show c.113-2739_113-2712dupATATATATATATATATATATATATATAT	MMS19	ENSG00000155229.21	transcript	ENST00000438925.7	protein_coding	1/30			chr10	TogoVar
MMS19_chr10_97453324_97503422	97486891	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0161 a0002c0002t0001g0161	1	372	0.0027	28	c.113 others(45): Show c.113-2741_113-2740insCATATATATATATATATATATATATATA	MMS19	ENSG00000155229.21	transcript	ENST00000438925.7	protein_coding	1/30			chr10	TogoVar
MNAT1_chr14_60729761_60974965	60869040	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	272	0.0037	28	c.688 others(47): Show c.688-10673_688-10672insATATATATATATATATATATATATTT TT	MNAT1	ENSG00000020426.11	transcript	ENST00000261245.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
MND1_chr4_153339688_153420118	153391727	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19030.hp2 NA19070.hp1 HG03041.hp2 NA19030.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0002g0045 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0002g0045	3	342	0.0088	28	c.277 others(45): Show c.277-2512_277-2511insCACACACACACACACACACACACACACA	MND1	ENSG00000121211.8	transcript	ENST00000240488.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MNS1_chr15_56423724_56470137	56426626	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	414	0.0024	28	c.24 others(39): Show c.2474_*2475insGTGTATATATATATATATATATATATAT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding		2097		chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	414	0.0024	28	c.226 others(45): Show c.226-3489_226-3488insATATATATATATATATTTTTTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	414	0.0024	28	c.226 others(45): Show c.226-3489_226-3488insATATATATATATATATATTTTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA19090.hp2 HG01069.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0156 a0001c0001t0001g0120 a0001c0001t0001g0156	2	414	0.0048	28	c.226 others(45): Show c.226-3489_226-3488insATATATATATATATATATATTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp1 HG00741.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0188 a0001c0001t0001g0172 a0001c0001t0001g0188	2	414	0.0048	28	c.226 others(45): Show c.226-3489_226-3488insATATATATATATATATATATATTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MOB1B_chr4_70897369_70993168	70976753	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0003 a0001c0001t0023g0003	1	284	0.0035	28	c.409 others(45): Show c.409+1489_409+1490insATATATATATATATATATATATATATAT	MOB1B	ENSG00000173542.9	transcript	ENST00000309395.7	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
MOB2_chr11_1464457_1491779	1466268	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00639.hp2 others(20): Show HG00280.hp1 HG00438.hp1 HG00639.hp2 HG00673.hp2 HG01081.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01884.hp1 HG02451.hp2 HG02630.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03579.hp2 HG03669.hp2 NA18522.hp2 NA19012.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0026 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0003g0057 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0115 a0001c0001t0007g0037	23	426	0.0540	28	c.39 others(39): Show c.3903_*3904insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	MOB2	ENSG00000182208.15	transcript	ENST00000329957.7	protein_coding		3188		chr11	TogoVar
MOB3B_chr9_27320209_27534814	27418091	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0154 a0001c0002t0154	a0001c0002t0154g0111 a0001c0002t0154g0111	1	320	0.0031	28	c.418 others(47): Show c.418+37041_418+37042insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	2/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27487132	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0016 a0001c0001t0055g0016	1	320	0.0031	28	c.-19 others(49): Show c.-198-31385_-198-31384insATTTATTTATTTATTTATTTATTT ATTT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	1/3			chr9	TogoVar
MOBP_chr3_39462680_39508027	39468856	A A	AGTGTGTA others(21): Show AGTGTGTATATATACATATATACATATGT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	400	0.0025	28	c.-89 others(45): Show c.-89+1144_-89+1171dupTGTGTGTATATATACATATATACATATG	MOBP	ENSG00000168314.19	transcript	ENST00000684792.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
MOBP_chr3_39462680_39508027	39469046	A A	ATGTGTGT others(21): Show ATGTGTGTGTATATACATATATACATATG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	400	0.0025	28	c.-89 others(45): Show c.-89+1342_-89+1369dupGTATATACATATATACATATGTGTGTGT	MOBP	ENSG00000168314.19	transcript	ENST00000684792.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
MOCOS_chr18_36182497_36277157	36262250	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00741.hp1 HG01109.hp1 others(40): Show HG00408.hp2 HG00741.hp1 HG01109.hp1 HG01433.hp1 HG01975.hp2 HG01993.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03490.hp1 HG03490.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03927.hp1 NA18747.hp1 NA18950.hp1 NA18955.hp2 NA18956.hp2 NA18962.hp2 NA18973.hp2 NA18999.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0009 a0011	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0009c0034 a0011c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(24): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0030 a0001c0001t0074 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0033 a0002c0002t0076 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0008 a0003c0003t0056 a0005c0005t0018 a0009c0034t0077 a0011c0011t0006	a0001c0001t0002g0178 a0001c0001t0003g0012 a0001c0001t0003g0019 others(40): Show a0001c0001t0002g0178 a0001c0001t0003g0012 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0076 a0001c0001t0003g0179 a0001c0001t0003g0219 a0001c0001t0005g0220 a0001c0001t0005g0247 a0001c0001t0005g0254 a0001c0001t0005g0321 a0001c0001t0006g0183 a0001c0001t0007g0182 a0001c0001t0007g0184 a0001c0001t0007g0358 a0001c0001t0008g0204 a0001c0001t0010g0135 a0001c0001t0010g0138 a0001c0001t0013g0181 a0001c0001t0015g0074 a0001c0001t0020g0276 a0001c0001t0021g0281 a0001c0001t0021g0285 a0001c0001t0030g0130 a0001c0001t0074g0286 a0002c0002t0002g0040 a0002c0002t0002g0239 a0002c0002t0003g0047 a0002c0002t0003g0269 a0002c0002t0006g0195 a0002c0002t0033g0034 a0002c0002t0076g0142 a0003c0003t0001g0342 a0003c0003t0001g0343 a0003c0003t0002g0317 a0003c0003t0002g0356 a0003c0003t0003g0350 a0003c0003t0005g0357 a0003c0003t0008g0104 a0003c0003t0056g0322 a0005c0005t0018g0102 a0009c0034t0077g0161 a0011c0011t0006g0300	43	358	0.1201	28	c.240 others(47): Show c.2409+2101_2409+2102insACACACACACACACACACACACACAC AC	MOCOS	ENSG00000075643.6	transcript	ENST00000261326.6	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr18	TogoVar
MOCS1_chr6_39899170_39939462	39922135	A A	AACACAGC others(21): Show AACACAGCAGCTGCTGGCCACATGAGGCT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0226 a0002c0002t0002g0226	1	272	0.0037	28	c.418 others(45): Show c.418+3515_418+3542dupAGCCTCATGTGGCCAGCAGCTGCTGTGT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	3/10			chr6	TogoVar
MOG_chr6_29652092_29677365	29676098	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02698.hp2 HG02615.hp1 HG02698.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0032 a0003c0003t0009g0187 a0003c0003t0009g0032 a0003c0003t0009g0187	2	439	0.0046	28	c.49 others(39): Show c.4913_*4914insTGTGTGTGTGTGTGTGTGTGTGTGTGTG	MOG	ENSG00000204655.12	transcript	ENST00000376917.8	protein_coding		3734		chr6	TogoVar
MON1B_chr16_77186190_77207398	77200291	T T	TATATATA others(21): Show TATATATATATACATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0061 a0001c0002t0061	a0001c0002t0061g0002 a0001c0002t0061g0002	1	440	0.0023	28	c.19 others(39): Show c.1984_*1985insTATATATATACATATATATATATATACA	MON1B	ENSG00000103111.15	transcript	ENST00000248248.8	protein_coding	6/6	1985	INFO_REALIGN_3_PRIME	chr16	TogoVar
MON1B_chr16_77186190_77207398	77200291	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0097 a0001c0002t0097	a0001c0002t0097g0002 a0001c0002t0097g0002	1	440	0.0023	28	c.19 others(39): Show c.1984_*1985insTATATATATATATATATATATATACACA	MON1B	ENSG00000103111.15	transcript	ENST00000248248.8	protein_coding	6/6	1985	INFO_REALIGN_3_PRIME	chr16	TogoVar
MON1B_chr16_77186190_77207398	77200291	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp2 HG03654.hp2 HG03669.hp1 others(1): Show HG01433.hp2 HG03654.hp2 HG03669.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0002 a0001c0002t0017g0036 a0001c0002t0017g0002 a0001c0002t0017g0036	4	440	0.0091	28	c.19 others(39): Show c.1984_*1985insTATATATATATATATATATATATATACA	MON1B	ENSG00000103111.15	transcript	ENST00000248248.8	protein_coding	6/6	1985	INFO_REALIGN_3_PRIME	chr16	TogoVar
MON1B_chr16_77186190_77207398	77205433	A A	AATATATA others(21): Show AATATATATATATATATATATGTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0002 a0001c0002t0006g0002	1	440	0.0023	28	c.71 others(39): Show c.7125_*7126insATATATATATATATATATATGTATATAT	MON1B	ENSG00000103111.15	transcript	ENST00000248248.8	protein_coding		3036		chr16	TogoVar
MON2_chr12_62461826_62605476	62534543	A A	AATATATA others(21): Show AATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0335 a0001c0002t0002g0335	1	368	0.0027	28	c.163 others(45): Show c.1634-302_1634-301insATATATATATATATATATATATATATTT	MON2	ENSG00000061987.16	transcript	ENST00000393630.8	protein_coding	12/34			chr12	TogoVar

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