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 annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MICALL2_chr7_1429359_1464470	1444118	A A	ACCTGTCC others(41): Show ACCTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0172 a0002c0003t0002g0172	1	280	0.0036	48	c.141 others(65): Show c.1418+533_1418+534insCCGCGAGCGGGACCCACGCTGGCGGGTC TGAGTGGACGCGGGGACAGG	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	6/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1444166	A A	ACCTGTCC others(41): Show ACCTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0010 a0010	a0010c0041 a0010c0041	a0010c0041t0002 a0010c0041t0002	a0010c0041t0002g0155 a0010c0041t0002g0155	1	280	0.0036	48	c.141 others(65): Show c.1418+485_1418+486insCCGCGAGCGGGACCCACGCTGGCGGGTC TGAGTGGACGCGGGGACAGG	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	6/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1444206	C C	CGCTCGCG others(41): Show CGCTCGCGGCCTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp2 HG00735.hp2 others(14): Show HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01358.hp2 HG01928.hp1 HG01981.hp2 HG01993.hp2 HG02148.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 NA18964.hp1 NA18967.hp1 NA18994.hp2 NA19066.hp2	a0002 a0013 a0002 a0013	a0002c0003 a0002c0071 a0013c0067 a0002c0003 a0002c0071 a0013c0067	a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 others(2): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0071t0002 a0013c0067t0001	a0002c0003t0001g0175 a0002c0003t0002g0002 a0002c0003t0002g0064 others(12): Show a0002c0003t0001g0175 a0002c0003t0002g0002 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0170 a0002c0003t0002g0171 a0002c0003t0002g0174 a0002c0003t0002g0176 a0002c0003t0002g0179 a0002c0003t0002g0182 a0002c0003t0002g0184 a0002c0003t0004g0015 a0002c0003t0004g0016 a0002c0071t0002g0180 a0013c0067t0001g0173	17	280	0.0607	48	c.141 others(65): Show c.1418+445_1418+446insAGGACCCACGCTGGCGGGTCTGAGTGGA CGCGGGGACAGGCCGCGAGC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	6/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1444290	C C	CAGCGTGG others(41): Show CAGCGTGGGTCCCGCTCGCGACCTGTCCCCGCGTCCACTCAGACCCGCA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0178 a0002c0003t0002g0178	1	280	0.0036	48	c.141 others(65): Show c.1418+361_1418+362insTGCGGGTCTGAGTGGACGCGGGGACAGG TCGCGAGCGGGACCCACGCT	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	6/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446244	G G	GAGGAGGG others(41): Show GAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0041 a0041	a0041c0069 a0041c0069	a0041c0069t0001 a0041c0069t0001	a0041c0069t0001g0037 a0041c0069t0001g0037	1	280	0.0036	48	c.641 others(63): Show c.641+468_641+469insACTCTTCTCTCCCTACTGCTCCGCCTCCTC CCCCTTTTTCCCCCTCCT	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446395	G G	GCGGAGCA others(41): Show GCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02922.hp1 HG01243.hp2 HG01884.hp2 HG02922.hp1	a0018 a0041 a0018 a0041	a0018c0033 a0018c0070 a0041c0069 a0018c0033 a0018c0070 a0041c0069	a0018c0033t0001 a0018c0070t0001 a0041c0069t0001 a0018c0033t0001 a0018c0070t0001 a0041c0069t0001	a0018c0033t0001g0028 a0018c0070t0001g0252 a0041c0069t0001g0037 a0018c0033t0001g0028 a0018c0070t0001g0252 a0041c0069t0001g0037	3	280	0.0107	48	c.641 others(63): Show c.641+317_641+318insTTCCTCCCCCCTCCTCTCCCTCTTCACTCT TCTCTCCCTACTGCTCCG	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICU1_chr10_72362340_72631079	72535021	T T	TTTATTTT others(41): Show TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01515.hp1 HG01257.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0041 a0001c0001t0002g0042	2	208	0.0096	48	c.494 others(65): Show c.494-1233_494-1232insTAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAA	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	4/11			chr10	TogoVar
MICU1_chr10_72362340_72631079	72535021	T T	TTTTATTT others(41): Show TTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0057 a0002c0002t0002g0057	1	208	0.0048	48	c.494 others(65): Show c.494-1233_494-1232insTAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAATAAA	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	4/11			chr10	TogoVar
MINAR1_chr15_79427336_79477304	79438956	G G	GGGTGGAT others(41): Show GGGTGGATAGTGAGTGTGTGGGTGTGGGGTGGGTAGTGAGTGTGTGGGT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	390	0.0026	48	c.-51 others(65): Show c.-51+6416_-51+6417insGGTGGATAGTGAGTGTGTGGGTGTGGGG TGGGTAGTGAGTGTGTGGGT	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3			chr15	TogoVar
MINAR1_chr15_79427336_79477304	79438987	G G	GGGTGGAT others(41): Show GGGTGGATAGTGAGTGTGTGGGTGTGGGGTGGATAGTGAGTGTGTGGGT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	390	0.0026	48	c.-51 others(65): Show c.-51+6448_-51+6449insGTGGATAGTGAGTGTGTGGGTGTGGGGT GGATAGTGAGTGTGTGGGTG	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MLPH_chr2_237482251_237560322	237524302	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0190 a0004c0005t0001g0190	1	286	0.0035	48	c.676 others(65): Show c.676-1280_676-1279insTATATATATATATATATATATATATATA TATATATATATATATATATA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543318	G G	GGGACAGT others(41): Show GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	286	0.0035	48	c.153 others(65): Show c.1539+661_1539+662insACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGGGACAGTGGCAAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543510	G G	GGGGGACA others(41): Show GGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGCACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0001 a0002c0043t0001	a0002c0043t0001g0061 a0002c0043t0001g0061	1	286	0.0035	48	c.153 others(65): Show c.1539+862_1539+863insCAAGTGGGCACAGTGGTGAGTGGGCACA GTGGTGAGTGGGGACAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543588	G G	GGTGAGTG others(41): Show GGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACGGTA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0013 a0005c0004t0001g0013	1	286	0.0035	48	c.153 others(65): Show c.1539+938_1539+939insGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGCACGGTAGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543630	G G	GGGGACAG others(41): Show GGGGACAGTGGTGAGTGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0095 a0002c0002t0002g0095	1	286	0.0035	48	c.153 others(65): Show c.1539+974_1539+975insACAGTGGTGAGTGGGGGACAGTGGCAAG TGGGCACAGTGGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543700	G G	GGGACAGT others(41): Show GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0233 a0002c0002t0004g0233	1	286	0.0035	48	c.153 others(67): Show c.1539+1043_1539+1044insACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGGACAGTGGCAAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543854	G G	GGGACAGT others(41): Show GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0233 a0002c0002t0004g0233	1	286	0.0035	48	c.153 others(67): Show c.1539+1197_1539+1198insACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGGACAGTGGCAAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543872	G G	GGGACAGT others(41): Show GGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	286	0.0035	48	c.153 others(67): Show c.1539+1214_1539+1215insGACAGTGGTGAGTGGGGGGACAGTGG CAAGTGGGGACAGTGGTGAGTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544008	G G	GGGGGACA others(41): Show GGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGCACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	286	0.0035	48	c.153 others(67): Show c.1539+1360_1539+1361insCAAGTGGGCACAGTGGTGAGTGGGCA CAGTGGTGAGTGGGGACAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544026	G G	GGGACAGT others(41): Show GGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	286	0.0035	48	c.153 others(67): Show c.1539+1368_1539+1369insGACAGTGGTGAGTGGGGGGACAGTGG CAAGTGGGGACAGTGGTGAGTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544181	G G	GGGACAGT others(41): Show GGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	286	0.0035	48	c.153 others(67): Show c.1539+1524_1539+1525insACAGTGGTGAGTGGGGGGACAGTGGC AAGTGGGGACAGTGGTGAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237545053	G G	GTGAGTTG others(41): Show GTGAGTTGGGGGACAGTGGTGAATGGGCACGGTAGTGAGTGGGGGGACA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02074.hp1 HG02559.hp1 others(6): Show HG02056.hp2 HG02074.hp1 HG02559.hp1 HG02809.hp1 HG03669.hp2 HG06807.hp1 NA18969.hp2 NA18980.hp2 NA19079.hp2	a0004 a0009 a0012 a0004 a0009 a0012	a0004c0005 a0009c0011 a0012c0013 a0004c0005 a0009c0011 a0012c0013	a0004c0005t0001 a0004c0005t0002 a0004c0005t0004 others(2): Show a0004c0005t0001 a0004c0005t0002 a0004c0005t0004 a0009c0011t0015 a0012c0013t0001	a0004c0005t0001g0130 a0004c0005t0001g0137 a0004c0005t0001g0188 others(6): Show a0004c0005t0001g0130 a0004c0005t0001g0137 a0004c0005t0001g0188 a0004c0005t0001g0189 a0004c0005t0002g0283 a0004c0005t0004g0187 a0004c0005t0004g0191 a0009c0011t0015g0254 a0012c0013t0001g0074	9	286	0.0315	48	c.154 others(67): Show c.1540-1553_1540-1552insTGAGTTGGGGGACAGTGGTGAATGGG CACGGTAGTGAGTGGGGGGACA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLXIPL_chr7_73588202_73629522	73589025	A A	ATATAAAT others(41): Show ATATAAATATAAAATACATTTATATTATAAATATAAAATACATTTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01255.hp1 HG01928.hp2 others(7): Show HG01109.hp2 HG01255.hp1 HG01928.hp2 HG02056.hp1 HG02300.hp2 HG02451.hp1 HG03486.hp1 HG03942.hp1 NA18952.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0113 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0113 a0001c0001t0001g0130 a0001c0001t0001g0209 a0001c0001t0001g0228 a0001c0001t0001g0247 a0001c0005t0001g0021 a0001c0005t0001g0061	10	276	0.0362	48	c.48 others(59): Show c.4839_*4840insATATAAATGTATTTTATATTTATAATATAAATGT ATTTTATATTTATA	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding		4176		chr7	TogoVar
MMD2_chr7_4900998_4964187	4945185	T T	TTTCTTCT others(41): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03239.hp1 NA19065.hp2 HG03017.hp2 HG03239.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0008 a0001c0001t0004 a0001c0002t0008	a0001c0001t0004g0285 a0001c0001t0004g0310 a0001c0002t0008g0365 a0001c0001t0004g0285 a0001c0001t0004g0310 a0001c0002t0008g0365	3	382	0.0079	48	c.47+ others(65): Show c.47+13738_47+13785dupGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6			chr7	TogoVar
MMEL1_chr1_2585639_2638016	2592307	C C	CCCCCCTC others(41): Show CCCCCCTCCCCTGCAGCGCTGATGCCCCCCCTCCCCTGCCGTGCTGACG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01884.hp2 HG02622.hp1 others(5): Show HG01123.hp1 HG01884.hp2 HG02622.hp1 HG02630.hp1 HG03130.hp2 HG03486.hp1 HG03579.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0013 a0002c0003t0001g0028 a0002c0003t0001g0278 others(2): Show a0002c0003t0001g0013 a0002c0003t0001g0028 a0002c0003t0001g0278 a0002c0003t0001g0279 a0002c0003t0001g0280	8	343	0.0233	48	c.206 others(65): Show c.2068-281_2068-280insCGTCAGCACGGCAGGGGAGGGGGGGCAT CAGCGCTGCAGGGGAGGGGG	MMEL1	ENSG00000142606.16	transcript	ENST00000378412.8	protein_coding	21/23			chr1	TogoVar
MMEL1_chr1_2585639_2638016	2592606	A A	ATGCCCCC others(41): Show ATGCCCCCCCTCCCCTGCCATGCTGACGCCCCCTCCCCTGATGCACTGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01884.hp2 HG02622.hp1 others(5): Show HG01123.hp1 HG01884.hp2 HG02622.hp1 HG02630.hp1 HG03130.hp2 HG03486.hp1 HG03579.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0013 a0002c0003t0001g0028 a0002c0003t0001g0278 others(2): Show a0002c0003t0001g0013 a0002c0003t0001g0028 a0002c0003t0001g0278 a0002c0003t0001g0279 a0002c0003t0001g0280	8	343	0.0233	48	c.206 others(63): Show c.2067+48_2067+49insCCAGTGCATCAGGGGAGGGGGCGTCAGCAT GGCAGGGGAGGGGGGGCA	MMEL1	ENSG00000142606.16	transcript	ENST00000378412.8	protein_coding	21/23			chr1	TogoVar
MMP16_chr8_88027011_88332483	88088084	A A	ATATATAA others(41): Show ATATATAATAGATATCTATATATCTATATATAATAGATATCTATATATC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03195.hp2 HG03516.hp1 others(2): Show HG02258.hp1 HG03195.hp2 HG03516.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010	a0001c0001t0002g0068 a0001c0001t0007g0052 a0001c0001t0007g0171 others(2): Show a0001c0001t0002g0068 a0001c0001t0007g0052 a0001c0001t0007g0171 a0001c0001t0008g0054 a0001c0001t0010g0103	5	186	0.0269	48	c.108 others(69): Show c.1084-13342_1084-13341insGATATATAGATATCTATTATATAT AGATATATAGATATCTATTATATA	MMP16	ENSG00000156103.16	transcript	ENST00000286614.11	protein_coding	6/9			chr8	TogoVar
MMP19_chr12_55830433_55847936	55846469	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTGTGTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	414	0.0024	48	c.-36 others(59): Show c.-3640_-3639insTATATATATATATATATATATATATATATATATA CACACACACACACA	MMP19	ENSG00000123342.16	transcript	ENST00000322569.9	protein_coding		3534		chr12	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(41): Show CACACACACACACACACACACACACACATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0204 a0001c0010t0001g0204	1	382	0.0026	48	c.54 others(59): Show c.5444_*5445insATATATATATATATATATATATGTGTGTGTGTGT GTGTGTGTGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(41): Show CACACACACACACACACACATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG03486.hp1 HG02615.hp2 HG03486.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0007 a0001c0002 a0007c0007	a0001c0002t0001 a0007c0007t0001 a0001c0002t0001 a0007c0007t0001	a0001c0002t0001g0213 a0007c0007t0001g0035 a0001c0002t0001g0213 a0007c0007t0001g0035	2	382	0.0052	48	c.54 others(59): Show c.5444_*5445insATATATATATATATATATATATATATATATGTGT GTGTGTGTGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(41): Show CACACACACACACATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 NA19005.hp2 HG02080.hp1 NA19005.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0047 a0002c0001t0001g0004 a0002c0001t0001g0047	2	382	0.0052	48	c.54 others(59): Show c.5444_*5445insATATATATATATATATATATATATATATATATAT ATGTGTGTGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(41): Show CACACACACACATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp1 NA18998.hp1 HG01515.hp2 HG01517.hp1 NA18998.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0005 a0001c0003 a0004c0005	a0001c0003t0001 a0004c0005t0001 a0001c0003t0001 a0004c0005t0001	a0001c0003t0001g0002 a0001c0003t0001g0186 a0004c0005t0001g0003 a0001c0003t0001g0002 a0001c0003t0001g0186 a0004c0005t0001g0003	3	382	0.0079	48	c.54 others(59): Show c.5444_*5445insATATATATATATATATATATATATATATATATAT ATATGTGTGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(41): Show CACACACACATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG03834.hp1 NA18983.hp1 others(2): Show HG00423.hp2 HG03834.hp1 NA18983.hp1 NA19001.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0267 others(2): Show a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0267 a0002c0001t0001g0007 a0002c0001t0001g0069	5	382	0.0131	48	c.54 others(59): Show c.5444_*5445insATATATATATATATATATATATATATATATATAT ATATATGTGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MNAT1_chr14_60729761_60974965	60918735	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	272	0.0037	48	c.809 others(67): Show c.809+38922_809+38923insATATATATATATATATATATATATAT ATATATATATATATATATATAT	MNAT1	ENSG00000020426.11	transcript	ENST00000261245.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	414	0.0024	48	c.226 others(65): Show c.226-3489_226-3488insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MOB2_chr11_1464457_1491779	1472803	T T	TGGGCACA others(41): Show TGGGCACAGGGCCTCCAGCGTCTCCGGGCACAGGGCCTCCAGCGTCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02895.hp2 HG02897.hp2 HG01884.hp1 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	3	426	0.0070	48	c.366 others(65): Show c.366-1385_366-1384insGGAGACGCTGGAGGCCCTGTGCCCGGAG ACGCTGGAGGCCCTGTGCCC	MOB2	ENSG00000182208.15	transcript	ENST00000329957.7	protein_coding	3/4			chr11	TogoVar
MOB3A_chr19_2066036_2101326	2068803	G G	GCCTATAG others(41): Show GCCTATAGAAATACACAGAAAGATGCCGTCTCCGGTGCGGTGGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0170 a0001c0004t0006g0170	1	400	0.0025	48	c.45 others(59): Show c.4591_*4592insTGTGAGCCACCGCACCGGAGACGGCATCTTTCTG TGTATTTCTATAGG	MOB3A	ENSG00000172081.14	transcript	ENST00000357066.8	protein_coding		2232		chr19	TogoVar
MOB3B_chr9_27320209_27534814	27444224	A A	AAAGGAGG others(41): Show AAAGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp1 HG02723.hp1 others(3): Show HG01496.hp1 HG01884.hp1 HG02723.hp1 HG02970.hp1 HG03130.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0059 a0001c0001t0061 others(3): Show a0001c0001t0053 a0001c0001t0059 a0001c0001t0061 a0001c0001t0101 a0001c0001t0117 a0001c0001t0236	a0001c0001t0053g0015 a0001c0001t0059g0014 a0001c0001t0061g0005 others(3): Show a0001c0001t0053g0015 a0001c0001t0059g0014 a0001c0001t0061g0005 a0001c0001t0101g0050 a0001c0001t0117g0048 a0001c0001t0236g0295	6	320	0.0188	48	c.418 others(67): Show c.418+10908_418+10909insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCCTCCCTCCCTCCCTCCTT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	2/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27444224	A A	AAAGGAGG others(41): Show AAAGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0037 a0001c0001t0104g0037	1	320	0.0031	48	c.418 others(67): Show c.418+10908_418+10909insCCTTCCTTCCTTCCTTCCTTCCCTCC CTCCCTCCCTCCCTCCCTCCTT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	2/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27444226	A A	AGGAGGGA others(41): Show AGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0179 a0001c0001t0179	a0001c0001t0179g0187 a0001c0001t0179g0187	1	320	0.0031	48	c.418 others(67): Show c.418+10906_418+10907insCTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCCTCCCTCCCTCCCTCC	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	2/3			chr9	TogoVar
MOBP_chr3_39462680_39508027	39469181	T T	TGTGTGTG others(41): Show TGTGTGTGTATATACATATATACATGTGTGTGTGTATATACATATATAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	400	0.0025	48	c.-89 others(65): Show c.-89+1449_-89+1450insATATACATATATACATGTGTGTGTGTAT ATACATATATACGTGTGTGT	MOBP	ENSG00000168314.19	transcript	ENST00000684792.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
MOCS1_chr6_39899170_39939462	39924637	G G	GCCAAAGC others(41): Show GCCAAAGCAGCCATGGGCAATATGTAAATGAATGGGCCATGGCTATATT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0120 a0001c0013t0001g0120	1	272	0.0037	48	c.418 others(65): Show c.418+1040_418+1041insAATATAGCCATGGCCCATTCATTTACAT ATTGCCCATGGCTGCTTTGG	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	3/10			chr6	TogoVar
MORC1_chr3_108953248_109123134	109040403	A A	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01516.hp1 HG01515.hp1 HG01516.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0002 a0002c0006t0001 a0002c0002t0002 a0002c0006t0001	a0002c0002t0002g0170 a0002c0006t0001g0173 a0002c0002t0002g0170 a0002c0006t0001g0173	2	294	0.0068	48	c.133 others(67): Show c.1331-4936_1331-4935insCTTCCTTCCTTCCTTCCTTCTCTTTC TTTCTTTCTTTCTTTCTTTCTT	MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	14/27			chr3	TogoVar
MORC1_chr3_108953248_109123134	109040403	A A	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03209.hp2 NA18971.hp1 HG02451.hp2 HG03209.hp2 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0002 a0002c0006t0001 a0002c0002t0002 a0002c0006t0001	a0002c0002t0002g0186 a0002c0006t0001g0182 a0002c0006t0001g0183 a0002c0002t0002g0186 a0002c0006t0001g0182 a0002c0006t0001g0183	3	294	0.0102	48	c.133 others(67): Show c.1331-4936_1331-4935insCTTCCTTCCTTCCTTCCTTCCTTCCT TCTCTTTCTTTCTTTCTTTCTT	MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	14/27			chr3	TogoVar
MOV10L1_chr22_50085006_50166687	50147175	G G	GGCAGGCC others(41): Show GGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01891.hp1 HG01993.hp1 others(6): Show HG00597.hp2 HG01891.hp1 HG01993.hp1 HG02080.hp2 NA18983.hp1 NA18989.hp1 NA18990.hp2 NA19068.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0007t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0007t0001 a0002c0002t0002 a0003c0003t0002	a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0007t0001g0220 others(6): Show a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0007t0001g0220 a0002c0002t0002g0034 a0003c0003t0002g0332 a0003c0003t0002g0336 a0003c0003t0002g0355 a0003c0003t0002g0365 a0003c0003t0002g0384	9	400	0.0225	48	c.262 others(67): Show c.2627+1386_2627+1387insGCTCTGTGCAGAAGCAGGGAGGGTGC TGCAGGCCGCTCTCTCAGAGGC	MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr22	TogoVar
MOV10L1_chr22_50085006_50166687	50147197	A A	ACTCTGTG others(41): Show ACTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0321 a0004c0009t0001g0321	1	400	0.0025	48	c.262 others(67): Show c.2627+1754_2627+1801dupGCCGCTCTCTCAGAGGCGCTCTGTGC AGAAGCAGGGAGGGTGCTGCAG	MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr22	TogoVar
MOV10L1_chr22_50085006_50166687	50165996	C C	CGCCTGCA others(41): Show CGCCTGCAATCCCAGCGTGGCTCAAGCCTGCAATCCCAGCGTGGCTCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0359 a0003c0003t0002g0359	1	400	0.0025	48	c.45 others(59): Show c.4547_*4548insGCCTGCAATCCCAGCGTGGCTCAAGCCTGCAATC CCAGCGTGGCTCAG	MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding		4310		chr22	TogoVar
MOV10L1_chr22_50085006_50166687	50166508	G G	GTCCCAGC others(41): Show GTCCCAGCGTGGCCCACATCTCCAGTCCCAGCGTGGCTCAAGCCTGCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01074.hp2 HG01981.hp2 others(16): Show HG01070.hp1 HG01074.hp2 HG01981.hp2 HG02148.hp1 HG02738.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03710.hp1 HG03831.hp1 HG04228.hp2 NA18939.hp2 NA18953.hp2 NA18973.hp1 NA19003.hp1 NA19088.hp1 NA19240.hp2 NA20805.hp1 NA21309.hp1	a0003 a0017 a0003 a0017	a0003c0003 a0003c0012 a0017c0032 a0003c0003 a0003c0012 a0017c0032	a0003c0003t0002 a0003c0003t0004 a0003c0012t0002 others(1): Show a0003c0003t0002 a0003c0003t0004 a0003c0012t0002 a0017c0032t0001	a0003c0003t0002g0344 a0003c0003t0002g0347 a0003c0003t0002g0348 others(16): Show a0003c0003t0002g0344 a0003c0003t0002g0347 a0003c0003t0002g0348 a0003c0003t0002g0350 a0003c0003t0002g0358 a0003c0003t0002g0359 a0003c0003t0002g0361 a0003c0003t0002g0367 a0003c0003t0002g0368 a0003c0003t0002g0385 a0003c0003t0002g0387 a0003c0003t0002g0390 a0003c0003t0004g0386 a0003c0012t0002g0324 a0003c0012t0002g0325 a0003c0012t0002g0327 a0003c0012t0002g0340 a0003c0012t0002g0351 a0017c0032t0001g0093	19	400	0.0475	48	c.50 others(59): Show c.5059_*5060insTCCCAGCGTGGCCCACATCTCCAGTCCCAGCGTG GCTCAAGCCTGCAA	MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding		4822		chr22	TogoVar
MPI_chr15_74885042_74907219	74894107	T T	TGTGTGTG others(41): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCTGAGCCAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18945.hp1 NA18969.hp1 HG00642.hp2 NA18945.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0178 a0001c0002t0004g0107 a0001c0002t0004g0108 a0001c0001t0001g0178 a0001c0002t0004g0107 a0001c0002t0004g0108	3	422	0.0071	48	c.670 others(63): Show c.670+788_670+789insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTTTTCTGAGCCAGG	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
MPPED1_chr22_43407014_43512848	43432597	A A	AGAGAGAG others(41): Show AGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0233 a0001c0002t0003g0233	1	250	0.0040	48	c.225 others(65): Show c.225-2430_225-2429insGGAAAGAGAGAGAGAAGGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar

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