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	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
MEP1A_chr6_46788389_46844778	46824824	GTATTTAA others(43): Show GTATTTAAATATATATAAATTATATATATAAATTATATATTTAAATAGAT C	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02145.hp2 HG02922.hp2 others(1): Show HG01346.hp2 HG02145.hp2 HG02922.hp2 HG03516.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0002c0020 a0011c0012 a0002c0002 a0002c0020 a0011c0012	a0002c0002t0002 a0002c0020t0002 a0011c0012t0002 a0002c0002t0002 a0002c0020t0002 a0011c0012t0002	a0002c0002t0002g0130 a0002c0020t0002g0135 a0011c0012t0002g0132 others(1): Show a0002c0002t0002g0130 a0002c0020t0002g0135 a0011c0012t0002g0132 a0011c0012t0002g0134	4	352	0.0114	-50	c.557 others(65): Show c.557-371_557-322delATAAATTATATATTTAAATAGATCTATTTA AATATATATAAATTATATAT		MEP1A	ENSG00000112818.11	transcript	ENST00000230588.9	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
MEP1B_chr18_32185039_32225404	32223457	GCCCAGGT others(43): Show GCCCAGGTTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCGCC T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0081 a0002c0003t0001g0081	1	350	0.0029	-50	c.32 others(61): Show c.3213_*3262delCCCAGGTTAGAGTGCAGTGGTGCAATCTTGGCTC ACTGCAACTTCCGCCT		MEP1B	ENSG00000141434.12	transcript	ENST00000269202.11	protein_coding					3054		chr18	TogoVar
MERTK_chr2_111893607_112034561	111895922	TATCATTT others(43): Show TATCATTTGGATGCACAAGTACAAAATTAACATTGTAGAGCTGACATCTC A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0275 a0002c0002t0002g0275	1	288	0.0035	-50	c.-28 others(61): Show c.-2813_-2764delATCATTTGGATGCACAAGTACAAAATTAACATTG TAGAGCTGACATCTCA		MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding					2684		chr2	TogoVar
METTL16_chr17_2411049_2516888	2447851	TGGGGGGT others(43): Show TGGGGGGTCAGCCCTCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTG G	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0106 a0001c0001t0074g0106	1	298	0.0034	-50	c.729 others(67): Show c.729-6342_729-6293delCCACCTCCCTCCCGGACGGGGCGGCTGG CCAGGTGGAGGGCTGACCCCCC		METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	6/9						chr17	TogoVar
METTL16_chr17_2411049_2516888	2447871	TGGCCAGC others(43): Show TGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCC C	T T	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19066.hp2 NA18962.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0052 a0001c0001t0006 a0001c0001t0052	a0001c0001t0006g0071 a0001c0001t0052g0076 a0001c0001t0006g0071 a0001c0001t0052g0076	2	298	0.0067	-50	c.729 others(67): Show c.729-6362_729-6313delGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCC		METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	6/9						chr17	TogoVar
MIA2_chr14_39228915_39355694	39277672	TTATATAT others(43): Show TTATATATATATATATGTGTGTATATATATATATATATATATATGTGTGT A	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02129.hp1 HG02647.hp2 others(10): Show HG01515.hp1 HG02129.hp1 HG02647.hp2 HG04115.hp2 HG04228.hp1 NA18612.hp1 NA18963.hp1 NA18980.hp1 NA19001.hp2 NA19064.hp1 NA19087.hp1 NA20129.hp2 NA21309.hp2	a0002 a0005 a0006 others(4): Show a0002 a0005 a0006 a0008 a0019 a0021 a0028	a0002c0001 a0005c0007 a0006c0005 others(5): Show a0002c0001 a0005c0007 a0006c0005 a0006c0027 a0008c0008 a0019c0025 a0021c0036 a0028c0032	a0002c0001t0002 a0005c0007t0002 a0006c0005t0001 others(6): Show a0002c0001t0002 a0005c0007t0002 a0006c0005t0001 a0006c0005t0002 a0006c0027t0001 a0008c0008t0001 a0019c0025t0002 a0021c0036t0001 a0028c0032t0001	a0002c0001t0002g0040 a0002c0001t0002g0046 a0002c0001t0002g0055 others(10): Show a0002c0001t0002g0040 a0002c0001t0002g0046 a0002c0001t0002g0055 a0002c0001t0002g0101 a0005c0007t0002g0218 a0006c0005t0001g0233 a0006c0005t0001g0237 a0006c0005t0002g0231 a0006c0027t0001g0249 a0008c0008t0001g0268 a0019c0025t0002g0120 a0021c0036t0001g0257 a0028c0032t0001g0119	13	368	0.0353	-50	c.201 others(67): Show c.2019+623_2019+672delGTGTGTATATATATATATATATATATAT GTGTGTATATATATATATATAT		MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	7/28					INFO_REALIGN_3_PRIME	chr14	TogoVar
MIGA1_chr1_77774649_77884540	77869872	CCCCACCT others(43): Show CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC G	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp1 HG03540.hp2 HG02109.hp1 HG03098.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0208 a0001c0001t0009g0054 a0001c0001t0009g0268 a0001c0001t0001g0208 a0001c0001t0009g0054 a0001c0001t0009g0268	3	280	0.0107	-50	c.146 others(69): Show c.1468-3082_1468-3033delGCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCC		MIGA1	ENSG00000180488.17	transcript	ENST00000370791.9	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
MISP_chr19_746112_769318	754997	CCTGGTTT others(43): Show CCTGGTTTGGGGTGGAAGAGGAGGGCCTGGTTTGGGGTGGAAGAGGAGGG T	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0016 a0012c0015t0016	a0012c0015t0016g0048 a0012c0015t0016g0048	1	432	0.0023	-50	c.-57 others(67): Show c.-57-1880_-57-1831delGGAAGAGGAGGGCCTGGTTTGGGGTGGA AGAGGAGGGTCTGGTTTGGGGT		MISP	ENSG00000099812.9	transcript	ENST00000215582.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
MLIP_chr6_54106443_54271280	54252096	TTATAACA others(43): Show TTATAACATATAATATATAACTATATTATAACATATAATATATAACTATA A	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp1 HG03486.hp1 others(3): Show HG01891.hp2 HG02615.hp1 HG03486.hp1 HG06807.hp2 NA18522.hp1 NA19043.hp2	a0005 a0011 a0012 a0005 a0011 a0012	a0005c0005 a0011c0011 a0012c0010 a0005c0005 a0011c0011 a0012c0010	a0005c0005t0002 a0011c0011t0002 a0012c0010t0003 a0005c0005t0002 a0011c0011t0002 a0012c0010t0003	a0005c0005t0002g0147 a0011c0011t0002g0022 a0011c0011t0002g0024 others(3): Show a0005c0005t0002g0147 a0011c0011t0002g0022 a0011c0011t0002g0024 a0012c0010t0003g0045 a0012c0010t0003g0046 a0012c0010t0003g0047	6	248	0.0242	-50	c.292 others(69): Show c.2923-5177_2923-5128delTAATATATAACTATAATATAACATAT AATATATAACTATATTATAACATA		MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
MLLT3_chr9_20336669_20627499	20565922	TTATATAT others(43): Show TTATATATATATATATTTATATATATATATATTTATATATATATATTTAT A	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp1 HG02976.hp2 HG02055.hp1 HG02630.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0028 a0001c0001t0058 a0001c0001t0008 a0001c0001t0028 a0001c0001t0058	a0001c0001t0008g0162 a0001c0001t0028g0095 a0001c0001t0058g0161 a0001c0001t0008g0162 a0001c0001t0028g0095 a0001c0001t0058g0161	3	186	0.0161	-50	c.193 others(69): Show c.193+54682_193+54731delTATAAATATATATATATAAATATATA TATATATAAATATATATATATATA		MLLT3	ENSG00000171843.17	transcript	ENST00000380338.9	protein_coding	2/10						chr9	TogoVar
MLPH_chr2_237482251_237560322	237543232	GGGCACAG others(43): Show GGGCACAGTAGTGAGTAGGGGGACAGTGGTGAATGGGGGACAGTGGTGAA T	G G	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0273 a0011c0012t0001g0273	1	286	0.0035	-50	c.153 others(67): Show c.1539+576_1539+625delCACAGTAGTGAGTAGGGGGACAGTGGTG AATGGGGGACAGTGGTGAATGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543520	GGTGAGTG others(43): Show GGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGT A	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02132.hp1 NA18951.hp2 HG00408.hp1 HG02132.hp1 NA18951.hp2	a0001 a0029 a0001 a0029	a0001c0001 a0029c0036 a0001c0001 a0029c0036	a0001c0001t0001 a0001c0001t0004 a0029c0036t0001 a0001c0001t0001 a0001c0001t0004 a0029c0036t0001	a0001c0001t0001g0217 a0001c0001t0004g0135 a0029c0036t0001g0181 a0001c0001t0001g0217 a0001c0001t0004g0135 a0029c0036t0001g0181	3	286	0.0105	-50	c.153 others(67): Show c.1539+873_1539+922delACAGTGGTGAGTGGGGGACAGTGGTGAG TGGGCACGGTAGTGAGTGGGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543710	GGTGAGTG others(43): Show GGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGT A	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18522.hp1 HG03225.hp2 NA18522.hp1	a0009 a0034 a0009 a0034	a0009c0011 a0034c0032 a0009c0011 a0034c0032	a0009c0011t0001 a0034c0032t0002 a0009c0011t0001 a0034c0032t0002	a0009c0011t0001g0089 a0034c0032t0002g0049 a0009c0011t0001g0089 a0034c0032t0002g0049	2	286	0.0070	-50	c.153 others(69): Show c.1539+1063_1539+1112delACAGTGGTGAGTGGGGGACAGTGGTG AGTGGGCACGGTAGTGAGTGGGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543752	GGCACGGT others(43): Show GGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAG T	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	286	0.0035	-50	c.153 others(69): Show c.1539+1095_1539+1144delCACGGTAGTGAGTGGGGGGACAGTGG TGAGTGGGAGGACAGTGGTGAGTG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543978	GACAGTGG others(43): Show GACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGG A	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0262 a0003c0003t0002g0262	1	286	0.0035	-50	c.153 others(69): Show c.1539+1320_1539+1369delACAGTGGTGAGTGGGCACGGTAGTGA GTGGGGGGACAGTGGTGAGTGGGA		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15						chr2	TogoVar
MLPH_chr2_237482251_237560322	237543992	GGCACGGT others(43): Show GGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAG T	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0088 a0009c0011t0001g0088	1	286	0.0035	-50	c.153 others(69): Show c.1539+1335_1539+1384delCACGGTAGTGAGTGGGGGGACAGTGG TGAGTGGGAGGACAGTGGTGAGTG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544067	AGTGGTGA others(43): Show AGTGGTGAGTGGGCACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCAC G	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0002 a0017c0020t0002	a0017c0020t0002g0173 a0017c0020t0002g0173	1	286	0.0035	-50	c.153 others(69): Show c.1539+1420_1539+1469delGCACGGTGGTGAGTGGGGGGACAGTG GTGAGTGGGCACGGTGGTGAGTGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544823	GGGGGACA others(43): Show GGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAG T	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18979.hp1 NA18971.hp1 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0033 a0002c0002t0002g0055 a0001c0001t0001g0033 a0002c0002t0002g0055	2	286	0.0070	-50	c.154 others(69): Show c.1540-1772_1540-1723delTGTGGGGGGACAGTGGTGAGTTGGGG GGACAGTGGTGAGTGGGGACAGTG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544883	GGTGAGTG others(43): Show GGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGGCACAGT A	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02486.hp1 HG01433.hp2 HG02486.hp1	a0005 a0031 a0005 a0031	a0005c0004 a0031c0028 a0005c0004 a0031c0028	a0005c0004t0001 a0031c0028t0001 a0005c0004t0001 a0031c0028t0001	a0005c0004t0001g0014 a0031c0028t0001g0128 a0005c0004t0001g0014 a0031c0028t0001g0128	2	286	0.0070	-50	c.154 others(69): Show c.1540-1712_1540-1663delACAGTAATGAGTCGGGGGACAGTGGT GAGTGGGCACAGTAGTGAGTGGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MMD2_chr7_4900998_4964187	4959777	GGTTGGGG others(43): Show GGTTGGGGGGAGTGGGGGACCTGGGGGTGGAGGGAGTGGAAAGTGGGGGA A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02976.hp2 NA19240.hp2 HG02647.hp2 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0247 a0001c0001t0009g0245 a0001c0001t0009g0246 a0001c0001t0001g0247 a0001c0001t0009g0245 a0001c0001t0009g0246	3	382	0.0079	-50	c.-81 others(59): Show c.-810_-761delTTCCCCCACTTTCCACTCCCTCCACCCCCAGGTCCC CCACTCCCCCCAAC		MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding					591		chr7	TogoVar
MOB1A_chr2_74147528_74183879	74182155	CTGTGACA others(43): Show CTGTGACAGATTAAGGAATTTTAATCTTTGTCACAAATAGGTGAAGAGAA A	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	402	0.0025	-50	c.-35 others(61): Show c.-3531_-3482delTTTCTCTTCACCTATTTGTGACAAAGATTAAAAT TCCTTAATCTGTCACA		MOB1A	ENSG00000114978.18	transcript	ENST00000396049.5	protein_coding					3277		chr2	TogoVar
MOXD1_chr6_132291055_132406475	132349402	TATACATA others(43): Show TATACATATATATATATATACATATATATATATACATATATATATATATA C	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02280.hp1 HG02717.hp2 others(3): Show HG02165.hp2 HG02280.hp1 HG02717.hp2 HG02818.hp1 HG03209.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0020 a0001c0001t0001g0155 a0001c0001t0001g0280 others(3): Show a0001c0001t0001g0020 a0001c0001t0001g0155 a0001c0001t0001g0280 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0015g0039	6	318	0.0189	-50	c.664 others(69): Show c.664-20858_664-20809delGTATATATATATATATGTATATATAT ATATGTATATATATATATATGTAT		MOXD1	ENSG00000079931.15	transcript	ENST00000367963.8	protein_coding	4/11						chr6	TogoVar
MPPED1_chr22_43407014_43512848	43499068	TGGAGGTG others(43): Show TGGAGGTGGTGATGGTGGAGGTGGTGGTGGTGGAGGTGGTGATGGTGGTG G	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	250	0.0040	-50	c.748 others(65): Show c.748+719_748+768delGGAGGTGGTGATGGTGGAGGTGGTGGTGGT GGAGGTGGTGATGGTGGTGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6						chr22	TogoVar
MRNIP_chr5_179832276_179863817	179849594	CTACGAGA others(43): Show CTACGAGACGGAATTTGAGAGCATGGATCCTGCAATGACACAGGCAGATG G	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0168 a0001c0002t0001g0168	1	444	0.0023	-50	c.127 others(67): Show c.127-1578_127-1529delCCATCTGCCTGTGTCATTGCAGGATCCA TGCTCTCAAATTCCGTCTCGTA		MRNIP	ENSG00000161010.16	transcript	ENST00000292586.11	protein_coding	2/6						chr5	TogoVar
MRNIP_chr5_179832276_179863817	179849866	ACGGGTCC others(43): Show ACGGGTCCCGCTATGGCACAGGCAGATGGTACGAGACGGAATTTGAGGGC T	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(256): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02895.hp2 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19078.hp2 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0010	a0001c0001 a0001c0002 a0005c0007 others(2): Show a0001c0001 a0001c0002 a0005c0007 a0008c0015 a0010c0014	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0005c0007t0001 a0008c0015t0001 a0010c0014t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(213): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0369 a0001c0001t0003g0370 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0070 a0005c0007t0001g0366 a0005c0007t0001g0367 a0005c0007t0001g0368 a0008c0015t0001g0266 a0010c0014t0001g0343	259	444	0.5833	-50	c.127 others(67): Show c.127-1850_127-1801delAGCCCTCAAATTCCGTCTCGTACCATCT GCCTGTGCCATAGCGGGACCCG		MRNIP	ENSG00000161010.16	transcript	ENST00000292586.11	protein_coding	2/6						chr5	TogoVar
MRPS2_chr9_135495682_135509671	135506781	CCCTCTGC others(43): Show CCCTCTGCTGATGTGGGCCCTCTGCTGATGTGGGCCCTCTGCTGATGTGG G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01255.hp1 HG01261.hp1 others(46): Show HG00741.hp1 HG01255.hp1 HG01261.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0002c0002t0003 a0002c0002t0005 a0003c0003t0003 a0003c0003t0012 a0010c0009t0006	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0004g0010 others(13): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0004g0010 a0001c0001t0006g0001 a0001c0001t0010g0010 a0002c0002t0003g0003 a0002c0002t0003g0007 a0002c0002t0003g0009 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0021 a0002c0002t0005g0001 a0002c0002t0005g0023 a0003c0003t0003g0004 a0003c0003t0012g0004 a0010c0009t0006g0001	49	406	0.1207	-50	c.26 others(61): Show c.2649_*2698delCCTCTGCTGATGTGGGCCCTCTGCTGATGTGGGC CCTCTGCTGATGTGGG		MRPS2	ENSG00000122140.13	transcript	ENST00000241600.10	protein_coding					2111		chr9	TogoVar
MS4A14_chr11_60391459_60422756	60418985	ATATATAT others(43): Show ATATATATATATATATATATGTATGTATATATATATATATATATATGTAT G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01192.hp2 HG01928.hp1 others(7): Show HG00733.hp1 HG01192.hp2 HG01928.hp1 HG02074.hp1 HG02273.hp2 HG03486.hp2 NA18998.hp1 NA19007.hp2 NA19009.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0123 a0002c0002t0003g0012 a0002c0002t0003g0120 others(1): Show a0002c0002t0002g0123 a0002c0002t0003g0012 a0002c0002t0003g0120 a0002c0002t0003g0121	10	428	0.0234	-50	c.19 others(61): Show c.1978_*2027delTATATATATATATATATATGTATGTATATATATA TATATATATATGTATG		MS4A14	ENSG00000166928.11	transcript	ENST00000300187.11	protein_coding					1230		chr11	TogoVar
MS4A14_chr11_60391459_60422756	60421393	ATATAGAA others(43): Show ATATAGAAGATAGATAGATAGATAGATGATAGATAGATAGATAGATAGAT T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 NA18962.hp2 HG00544.hp2 NA18962.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	2	428	0.0047	-50	c.43 others(61): Show c.4386_*4435delTATAGAAGATAGATAGATAGATAGATGATAGATA GATAGATAGATAGATT		MS4A14	ENSG00000166928.11	transcript	ENST00000300187.11	protein_coding					3638		chr11	TogoVar
MS4A4E_chr11_60195270_60248137	60201224	GGCTGGCC others(43): Show GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGC A	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0278 a0001c0001t0023g0278	1	410	0.0024	-50	c.26 others(59): Show c.269_*318delTGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGC		MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	9/9				269		chr11	TogoVar
MSH3_chr5_80649652_80881815	80692250	ATAGATAG others(43): Show ATAGATAGATAAACATGTATATGTTAGATAGATAGATAAACATGTATATG T	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0021 a0001c0002t0006g0021	1	362	0.0028	-50	c.134 others(71): Show c.1340+13182_1340+13231delAGATAGATAGATAAACATGTATAT GTTAGATAGATAAACATGTATATGTT		MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23					INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH4_chr1_75791882_75918242	75902673	GTATATAT others(43): Show GTATATATATATATATATATATATATATATATATATATATATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	332	0.0030	-50	c.261 others(69): Show c.2619+2980_2619+3029delTATATATATATATATATATATATATA TATATATATATATATATATATATA		MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
MSR1_chr8_16102881_16197651	16102987	ATACATGT others(43): Show ATACATGTATACATATGTGTATGTGTATATATGTATACATGTATACATAT G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0308 a0001c0003t0003g0308	1	330	0.0030	-50	c.70 others(61): Show c.7048_*7097delCATATGTATACATGTATACATATATACACATACA CATATGTATACATGTA		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding					4893		chr8	TogoVar
MT4_chr16_56560073_56573957	56568221	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGA G	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02280.hp1 HG02717.hp2 HG01192.hp2 HG02280.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0098 a0001c0001t0001g0175 a0001c0001t0001g0178	3	428	0.0070	-50	c.97+ others(63): Show c.97+445_97+494delGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGA		MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr16	TogoVar
MTG2_chr20_62178028_62208568	62204365	TGTGTGTG others(43): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAG A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03540.hp1 HG02486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0260 a0001c0001t0016g0261 a0001c0001t0016g0260 a0001c0001t0016g0261	2	412	0.0049	-50	c.32 others(61): Show c.3289_*3338delGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGA GAGAGAGAGAGAGAGA		MTG2	ENSG00000101181.18	transcript	ENST00000370823.8	protein_coding					798		chr20	TogoVar
MTHFD1L_chr6_150860702_151106887	151090921	TCCATGCG others(43): Show TCCATGCGACTGGGTGCAGCATCGTTCCATGCGACTGGGTGCAGCATCGC C	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp2 HG02647.hp1 others(10): Show HG01884.hp2 HG02615.hp2 HG02647.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0006t0004	a0001c0001t0001g0060 a0001c0001t0001g0119 a0001c0001t0001g0142 others(10): Show a0001c0001t0001g0060 a0001c0001t0001g0119 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0004g0124 a0001c0001t0005g0061 a0001c0001t0006g0186 a0001c0001t0015g0019 a0001c0006t0004g0193 a0001c0006t0004g0223	13	226	0.0575	-50	c.284 others(69): Show c.2848-1497_2848-1448delCCCCATGCGACTGGGTGCAGCATCGT TCCATGCGACTGGGTGCAGCATCG		MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	26/27					INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC6_chr11_1007823_1041718	1009427	GACACGCA others(43): Show GACACGCAGCCCGTGACCCCGCGCCAGGGTCTGGAGGGACGGCCCCGGGG A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0029 a0029	a0029c0024 a0029c0024	a0029c0024t0002 a0029c0024t0002	a0029c0024t0002g0049 a0029c0024t0002g0049	1	406	0.0025	-50	c.39 others(61): Show c.3979_*4028delTCCCCGGGGCCGTCCCTCCAGACCCTGGCGCGGG GTCACGGGCTGCGTGT		MUC6	ENSG00000184956.16	transcript	ENST00000421673.7	protein_coding					3395		chr11	TogoVar
MUC6_chr11_1007823_1041718	1009439	GTGACCCC others(43): Show GTGACCCCGCGCCAGGGTCTGGAGGGACGGCCCCGGGGAACACGCAGCCC A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0109 a0109	a0109c0177 a0109c0177	a0109c0177t0001 a0109c0177t0001	a0109c0177t0001g0147 a0109c0177t0001g0147	1	406	0.0025	-50	c.39 others(61): Show c.3967_*4016delTGGGCTGCGTGTTCCCCGGGGCCGTCCCTCCAGA CCCTGGCGCGGGGTCA		MUC6	ENSG00000184956.16	transcript	ENST00000421673.7	protein_coding					3383		chr11	TogoVar
MUC6_chr11_1007823_1041718	1009539	GCGACCCA others(43): Show GCGACCCAGCGCCAGGGTCTGGAGGGGCGGCCCCGGGGGACACGCAGCCC A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01243.hp2 HG01978.hp2 others(6): Show HG01175.hp2 HG01243.hp2 HG01978.hp2 HG01981.hp1 HG02293.hp1 HG02300.hp1 HG02572.hp2 HG02622.hp2 NA19240.hp2	a0005 a0019 a0049 others(1): Show a0005 a0019 a0049 a0060	a0005c0006 a0019c0018 a0019c0087 others(2): Show a0005c0006 a0019c0018 a0019c0087 a0049c0046 a0060c0199	a0005c0006t0002 a0019c0018t0002 a0019c0087t0002 others(2): Show a0005c0006t0002 a0019c0018t0002 a0019c0087t0002 a0049c0046t0001 a0060c0199t0001	a0005c0006t0002g0016 a0019c0018t0002g0011 a0019c0087t0002g0259 others(3): Show a0005c0006t0002g0016 a0019c0018t0002g0011 a0019c0087t0002g0259 a0049c0046t0001g0105 a0049c0046t0001g0106 a0060c0199t0001g0089	9	406	0.0222	-50	c.38 others(61): Show c.3867_*3916delTGGGCTGCGTGTCCCCCGGGGCCGCCCCTCCAGA CCCTGGCGCTGGGTCG		MUC6	ENSG00000184956.16	transcript	ENST00000421673.7	protein_coding					3283		chr11	TogoVar
MUSK_chr9_110663791_110811558	110701665	ATTTTATT others(43): Show ATTTTATTTTATTTTTTTTACTTTACTTTATTTTATTTTATTTTATTTTA T	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0164 a0001c0001t0021g0164	1	326	0.0031	-50	c.628 others(67): Show c.628+4203_628+4252delTATTTTATTTTTTTTACTTTACTTTATT TTATTTTATTTTATTTTATTTT		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110701685	CTTTACTT others(43): Show CTTTACTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA T	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18978.hp2 HG03239.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0244 a0001c0001t0003g0233 a0001c0001t0002g0244 a0001c0001t0003g0233	2	326	0.0061	-50	c.628 others(67): Show c.628+4224_628+4273delCTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTA		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MYDGF_chr19_4652545_4675342	4672168	CATATATT others(43): Show CATATATTCATATATACTTATATATATATTCATATATTCATATATACTTA T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG02572.hp2 others(8): Show HG02109.hp2 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02818.hp1 HG02897.hp1 HG02976.hp1 HG03139.hp2 HG06807.hp1 NA18906.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0002 a0002c0002t0002 a0002c0003t0002	a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0099 others(8): Show a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0003t0002g0064	11	410	0.0268	-50	c.-18 others(61): Show c.-1884_-1835delATAAGTATATATGAATATATGAATATATATATAA GTATATATGAATATAT		MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding					1827		chr19	TogoVar
MYDGF_chr19_4652545_4675342	4672247	ATATATTC others(43): Show ATATATTCATATATATGAATATATATATTAATATATTCATATATATATAC T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02970.hp1 HG02451.hp2 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0045 a0002c0003t0002g0046	2	410	0.0049	-50	c.-19 others(61): Show c.-1963_-1914delAGTATATATATATGAATATATTAATATATATATT CATATATATGAATATA		MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding					1906		chr19	TogoVar
MYH11_chr16_15698135_15862028	15775388	TTGGTTTA others(43): Show TTGGTTTATGTACTGCCTGTGCTCATTGGTTTATGTGTTGCCTGAGCTCA C	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02257.hp1 others(3): Show HG01891.hp2 HG02055.hp2 HG02257.hp1 HG02809.hp2 HG03139.hp1 NA19043.hp2	a0001 a0009 a0001 a0009	a0001c0013 a0001c0029 a0001c0032 others(2): Show a0001c0013 a0001c0029 a0001c0032 a0001c0055 a0009c0058	a0001c0013t0001 a0001c0029t0001 a0001c0032t0001 others(2): Show a0001c0013t0001 a0001c0029t0001 a0001c0032t0001 a0001c0055t0004 a0009c0058t0001	a0001c0013t0001g0112 a0001c0029t0001g0185 a0001c0029t0001g0191 others(3): Show a0001c0013t0001g0112 a0001c0029t0001g0185 a0001c0029t0001g0191 a0001c0032t0001g0179 a0001c0055t0004g0008 a0009c0058t0001g0190	6	297	0.0202	-50	c.889 others(65): Show c.889+640_889+689delGTGAGCTCAGGCAACACATAAACCAATGAG CACAGGCAGTACATAAACCA		MYH11	ENSG00000133392.18	transcript	ENST00000300036.6	protein_coding	8/40						chr16	TogoVar
MYH11_chr16_15698135_15862028	15775407	TGCTCATT others(43): Show TGCTCATTGGTTTATGTGTTGCCTGAGCTCACTGGTTTATGTGTTGCCTG A	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(120): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01515.hp1 HG01891.hp1 HG01934.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02135.hp1 HG02135.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18944.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(9): Show a0001 a0002 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0017 a0018	a0001c0002 a0001c0003 a0001c0004 others(30): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0016 a0001c0020 a0001c0028 a0001c0032 a0001c0035 a0001c0038 a0001c0050 a0001c0053 a0001c0054 a0001c0059 a0001c0061 a0001c0063 a0002c0040 a0002c0043 a0006c0027 a0007c0049 a0008c0039 a0010c0041 a0011c0045 a0012c0057 a0013c0046 a0014c0047 a0017c0033 a0018c0048	a0001c0002t0001 a0001c0002t0008 a0001c0003t0001 others(38): Show a0001c0002t0001 a0001c0002t0008 a0001c0003t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0006 a0001c0007t0001 a0001c0008t0001 a0001c0008t0007 a0001c0008t0012 a0001c0010t0001 a0001c0012t0001 a0001c0013t0001 a0001c0013t0002 a0001c0013t0014 a0001c0014t0001 a0001c0014t0013 a0001c0016t0001 a0001c0020t0001 a0001c0028t0001 a0001c0032t0002 a0001c0035t0001 a0001c0038t0001 a0001c0050t0003 a0001c0053t0001 a0001c0054t0011 a0001c0059t0001 a0001c0061t0003 a0001c0063t0003 a0002c0040t0001 a0002c0043t0001 a0006c0027t0001 a0007c0049t0001 a0008c0039t0002 a0010c0041t0001 a0011c0045t0001 a0012c0057t0001 a0013c0046t0001 a0014c0047t0001 a0017c0033t0006 a0018c0048t0001	a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0016 others(120): Show a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0016 a0001c0002t0001g0021 a0001c0002t0001g0027 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0051 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0108 a0001c0002t0001g0116 a0001c0002t0001g0123 a0001c0002t0001g0132 a0001c0002t0001g0150 a0001c0002t0001g0160 a0001c0002t0001g0171 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0239 a0001c0002t0001g0254 a0001c0002t0001g0260 a0001c0002t0001g0271 a0001c0002t0001g0275 a0001c0002t0001g0278 a0001c0002t0001g0284 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0008g0015 a0001c0003t0001g0023 a0001c0003t0001g0030 a0001c0003t0001g0035 a0001c0003t0001g0056 a0001c0003t0001g0097 a0001c0003t0001g0195 a0001c0003t0001g0202 a0001c0003t0001g0208 a0001c0003t0001g0258 a0001c0003t0001g0292 a0001c0004t0002g0013 a0001c0004t0002g0060 a0001c0004t0002g0102 a0001c0004t0002g0106 a0001c0004t0002g0113 a0001c0004t0002g0175 a0001c0004t0002g0182 a0001c0004t0002g0235 a0001c0004t0002g0291 a0001c0004t0003g0045 a0001c0004t0003g0047 a0001c0004t0003g0050 a0001c0004t0003g0080 a0001c0004t0003g0083 a0001c0004t0003g0090 a0001c0004t0006g0002 a0001c0007t0001g0018 a0001c0007t0001g0026 a0001c0007t0001g0029 a0001c0007t0001g0084 a0001c0007t0001g0105 a0001c0007t0001g0119 a0001c0007t0001g0122 a0001c0007t0001g0153 a0001c0007t0001g0231 a0001c0007t0001g0255 a0001c0007t0001g0261 a0001c0007t0001g0279 a0001c0008t0001g0130 a0001c0008t0001g0193 a0001c0008t0001g0256 a0001c0008t0001g0266 a0001c0008t0001g0293 a0001c0008t0001g0295 a0001c0008t0007g0089 a0001c0008t0007g0232 a0001c0008t0012g0219 a0001c0010t0001g0032 a0001c0012t0001g0131 a0001c0012t0001g0274 a0001c0013t0001g0243 a0001c0013t0002g0162 a0001c0013t0014g0297 a0001c0014t0001g0099 a0001c0014t0001g0200 a0001c0014t0001g0248 a0001c0014t0001g0289 a0001c0014t0013g0296 a0001c0016t0001g0022 a0001c0016t0001g0059 a0001c0016t0001g0103 a0001c0016t0001g0128 a0001c0016t0001g0194 a0001c0020t0001g0086 a0001c0020t0001g0240 a0001c0020t0001g0282 a0001c0028t0001g0214 a0001c0028t0001g0215 a0001c0032t0002g0178 a0001c0035t0001g0228 a0001c0038t0001g0074 a0001c0050t0003g0038 a0001c0053t0001g0064 a0001c0054t0011g0154 a0001c0059t0001g0192 a0001c0061t0003g0212 a0001c0063t0003g0167 a0002c0040t0001g0249 a0002c0043t0001g0226 a0006c0027t0001g0196 a0006c0027t0001g0221 a0007c0049t0001g0227 a0008c0039t0002g0118 a0010c0041t0001g0039 a0011c0045t0001g0223 a0012c0057t0001g0264 a0013c0046t0001g0072 a0014c0047t0001g0073 a0017c0033t0006g0004 a0018c0048t0001g0252	123	297	0.4141	-50	c.889 others(65): Show c.889+621_889+670delTCAGGCAACACATAAACCAGTGAGCTCAGG CAACACATAAACCAATGAGC		MYH11	ENSG00000133392.18	transcript	ENST00000300036.6	protein_coding	8/40						chr16	TogoVar
MYH7B_chr20_34950868_35007437	35000809	CTTGGCCC others(43): Show CTTGGCCCAGCTGAGCGGGGAGGTGGAGGAGGCTGCACAGGAGAGGCGGG A	C C	frameshift_variant frameshift_variant	HIGH	NA18990.hp2 NA18990.hp2	a0024 a0024	a0024c0022 a0024c0022	a0024c0022t0001 a0024c0022t0001	a0024c0022t0001g0114 a0024c0022t0001g0114	1	338	0.0030	-50	c.522 others(59): Show c.5221_5270delTTGGCCCAGCTGAGCGGGGAGGTGGAGGAGGCTGCA CAGGAGAGGCGGGA	p.Leu others(6): Show p.Leu1741fs	MYH7B	ENSG00000078814.19	transcript	ENST00000262873.13	protein_coding	40/45	5697/6551	5221/5826	1741/1941			chr20	TogoVar
MYMK_chr9_133509586_133529959	133512099	CATGTATG others(43): Show CATGTATGTGTGGTGTATGGAGTGTGTATATGTGTGCACGTGCATGTGTG T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(260): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0006 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0002c0006t0001 a0003c0005t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(104): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0003g0111 a0001c0002t0002g0073 a0001c0003t0002g0017 a0001c0004t0001g0120 a0001c0004t0001g0134 a0001c0004t0002g0048 a0002c0006t0001g0207 a0003c0005t0002g0051	263	456	0.5768	-50	c.24 others(61): Show c.2487_*2536delACACACATGCACGTGCACACATATACACACTCCA TACACCACACATACAT		MYMK	ENSG00000187616.5	transcript	ENST00000339996.4	protein_coding					2486		chr9	TogoVar
MYNN_chr3_169768396_169794716	169770632	ATATAAAA others(43): Show ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAGATA T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01884.hp1 HG01891.hp2 others(9): Show HG01433.hp2 HG01884.hp1 HG01891.hp2 HG02258.hp2 HG02451.hp1 HG02622.hp1 HG02886.hp1 HG03041.hp2 HG03195.hp1 HG03540.hp1 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0085 a0001c0001t0004g0086 others(1): Show a0001c0001t0004g0007 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0088	12	350	0.0343	-50	c.-28 others(61): Show c.-2861_-2812delTATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTAGATAT		MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding					2763		chr3	TogoVar
MYO16_chr13_108624611_109213005	108997314	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGA G	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03490.hp2 NA20752.hp1 HG00099.hp2 HG03490.hp2 NA20752.hp1	a0001 a0008 a0015 a0001 a0008 a0015	a0001c0017 a0008c0014 a0015c0011 a0001c0017 a0008c0014 a0015c0011	a0001c0017t0020 a0008c0014t0002 a0015c0011t0001 a0001c0017t0020 a0008c0014t0002 a0015c0011t0001	a0001c0017t0020g0117 a0008c0014t0002g0054 a0015c0011t0001g0124 a0001c0017t0020g0117 a0008c0014t0002g0054 a0015c0011t0001g0124	3	152	0.0197	-50	c.244 others(69): Show c.2442+4870_2442+4919delAAGAAAGAAAGAAAGAAAGAAAGAGA GAGAGAGAGAGAGAGAGAGAGAGA		MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	21/34					INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108997318	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01943.hp1 HG02280.hp2 others(17): Show HG01261.hp2 HG01943.hp1 HG02280.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG03041.hp1 HG03130.hp1 HG03453.hp2 HG03471.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp2 NA19057.hp1	a0001 a0003 a0007 others(3): Show a0001 a0003 a0007 a0008 a0012 a0022	a0001c0002 a0001c0005 a0001c0008 others(10): Show a0001c0002 a0001c0005 a0001c0008 a0001c0017 a0001c0022 a0001c0025 a0001c0065 a0001c0066 a0003c0004 a0007c0006 a0008c0023 a0012c0054 a0022c0063	a0001c0002t0001 a0001c0002t0015 a0001c0005t0001 others(12): Show a0001c0002t0001 a0001c0002t0015 a0001c0005t0001 a0001c0008t0004 a0001c0017t0001 a0001c0022t0001 a0001c0025t0004 a0001c0065t0007 a0001c0066t0004 a0003c0004t0002 a0007c0006t0001 a0007c0006t0004 a0008c0023t0001 a0012c0054t0001 a0022c0063t0003	a0001c0002t0001g0043 a0001c0002t0015g0038 a0001c0005t0001g0018 others(17): Show a0001c0002t0001g0043 a0001c0002t0015g0038 a0001c0005t0001g0018 a0001c0005t0001g0069 a0001c0005t0001g0110 a0001c0008t0004g0019 a0001c0008t0004g0058 a0001c0017t0001g0119 a0001c0022t0001g0072 a0001c0025t0004g0091 a0001c0065t0007g0071 a0001c0066t0004g0065 a0003c0004t0002g0108 a0007c0006t0001g0050 a0007c0006t0001g0100 a0007c0006t0004g0015 a0007c0006t0004g0138 a0008c0023t0001g0103 a0012c0054t0001g0020 a0022c0063t0003g0070	20	152	0.1316	-50	c.244 others(69): Show c.2442+4874_2442+4923delAAGAAAGAAAGAAAGAAAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGA		MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	21/34					INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108997322	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0028 a0001c0002t0003g0028	1	152	0.0066	-50	c.244 others(69): Show c.2442+4878_2442+4927delAAGAAAGAAAGAAAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGA		MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	21/34					INFO_REALIGN_3_PRIME	chr13	TogoVar

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