Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MRPS18C_chr4_83451058_83467298	83465299	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	74	0.0135	47	c.41 others(58): Show c.4102_*4103insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA		MRPS18C	ENSG00000163319.11	transcript	ENST00000295491.9	protein_coding					3002		chr4	TogoVar
MSH3_chr5_80649652_80881815	80692509	C C	CATGTATA others(40): Show CATGTATATGTTTAGATAGATAAACATGTATATGTTTAGATAGATAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02602.hp1 HG03239.hp1 others(1): Show HG01074.hp1 HG02602.hp1 HG03239.hp1 HG03490.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0007 a0004c0005t0007 a0001c0001t0007 a0004c0005t0007	a0001c0001t0007g0223 a0001c0001t0007g0224 a0004c0005t0007g0275 others(1): Show a0001c0001t0007g0223 a0001c0001t0007g0224 a0004c0005t0007g0275 a0004c0005t0007g0276	4	360	0.0111	47	c.134 others(68): Show c.1340+13453_1340+13454insGATAGATAAAATGTATATGTTTAG ATAGATAAACATGTATATGTTTA		MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23					INFO_REALIGN_3_PRIME	chr5	TogoVar
MSLN_chr16_755734_773862	767614	T T	TGGAGGAG others(40): Show TGGAGGAGGGGCGCGTGGAGGGGGCGCGTGGAGGAGGAGGGGCGCATG	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20129.hp1 HG02486.hp2 NA20129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0266 a0003c0004t0003g0280 a0003c0004t0003g0266 a0003c0004t0003g0280	2	286	0.0070	47	c.159 others(64): Show c.1596+146_1596+147insAGGAGGGGCGCGTGGAGGGGGCGCGTGG AGGAGGAGGGGCGCATGGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767667	T T	TGGAGGAG others(40): Show TGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	289	0.0035	47	c.159 others(64): Show c.1596+199_1596+200insAGGAGGAGGGGCGCATGGGGGGGTGTGG AGGGGGGCGCGTGGAGGGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767760	A A	AGGGGGGC others(40): Show AGGGGGGCGCGTGGGGGGGCGAGTGGAGGGGGGCGCATGGGGGTGCGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0002 a0014c0023t0002	a0014c0023t0002g0037 a0014c0023t0002g0037	1	374	0.0027	47	c.159 others(64): Show c.1596+292_1596+293insGGGGCGCGTGGGGGGGCGAGTGGAGGGG GGCGCATGGGGGTGCGTGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767865	G G	GGGCGTGG others(40): Show GGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	366	0.0027	47	c.159 others(64): Show c.1596+396_1596+397insGCGTGGAGGAGGGGCGCGTGGAGGGGGC CGTGTGGGGGGGCGTGGAG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767881	G G	GGGGGAGC others(40): Show GGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	354	0.0028	47	c.159 others(64): Show c.1596+411_1596+412insGGGGAGCGTGGGGGGCGTGGAGGAGGGG CGCGTGGAGGGGGGCGCGT		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17						chr16	TogoVar
MSLN_chr16_755734_773862	767882	A A	AGGGGCGC others(40): Show AGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19010.hp1 NA18952.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0157 a0001c0001t0001g0158	2	363	0.0055	47	c.159 others(64): Show c.1596+414_1596+415insGGCGCGTGGAGGGGGGAGCGTGGGGGGC GTGGAGGAGGGGCGCGTGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767961	G G	GGGGGGTG others(40): Show GGGGGGTGTGGAGGGGGGCGCATGGGGGTGCGTGGGGGGGCGCGTGGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG03471.hp1 others(1): Show HG02451.hp1 HG02572.hp2 HG03471.hp1 HG03540.hp2	a0007 a0013 a0007 a0013	a0007c0007 a0013c0018 a0007c0007 a0013c0018	a0007c0007t0001 a0013c0018t0001 a0007c0007t0001 a0013c0018t0001	a0007c0007t0001g0240 a0013c0018t0001g0009 a0007c0007t0001g0240 a0013c0018t0001g0009	4	381	0.0105	47	c.159 others(64): Show c.1597-418_1597-417insGGGGGTGTGGAGGGGGGCGCATGGGGGT GCGTGGGGGGGCGCGTGGA		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17						chr16	TogoVar
MSLN_chr16_755734_773862	767962	A A	AGGGGGGG others(40): Show AGGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCACATGGGGGTGCGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0329 a0002c0002t0002g0329	1	349	0.0029	47	c.159 others(64): Show c.1597-412_1597-411insGGCGCGTGGGGGGGTGTGGAGGGGGGCA CATGGGGGTGCGTGGGGGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16186741	T T	TCCCTTCA others(40): Show TCCCTTCAGCTTCATTCTTCTTTTGTCTTCTTCCTTCCCCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	328	0.0030	47	c.-5+ others(62): Show c.-5+5856_-5+5857insGGGAGGGGGGGGAAGGAAGAAGACAAAAGA AGAATGAAGCTGAAGGG		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9						chr8	TogoVar
MT4_chr16_56560073_56573957	56566819	A A	AAGGAAGG others(40): Show AAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18951.hp1 HG00438.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0046 a0001c0001t0001g0004 a0001c0001t0001g0046	2	362	0.0055	47	c.32- others(60): Show c.32-931_32-930insGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAA AGAAAGAAAGAAAGA		MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr16	TogoVar
MTFR1_chr8_65639734_65715562	65655951	A A	ATATATAT others(40): Show ATATATATATATATATGTATATATATATATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	215	0.0047	47	c.-81 others(66): Show c.-81+11167_-81+11168insTATATATATATATATGTATATATATA TATATATATATATATATATGT		MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7						chr8	TogoVar
MTMR9_chr8_11279816_11333146	11330110	G G	GTCAGCCC others(40): Show GTCAGCCCCCGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTCGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01074.hp1 HG01168.hp2 others(48): Show HG00673.hp1 HG01074.hp1 HG01168.hp2 HG01258.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02300.hp1 HG02818.hp1 HG03486.hp1 HG03704.hp1 HG03942.hp1 NA18612.hp2 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18951.hp1 NA18956.hp1 NA18968.hp1 NA18972.hp2 NA18982.hp2 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18995.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19063.hp2 NA19068.hp1 NA19070.hp1 NA19078.hp1 NA19079.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19089.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0009 a0001c0001t0023 others(10): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0038 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0086 a0001c0002t0027	a0001c0001t0004g0001 a0001c0001t0004g0010 a0001c0001t0004g0015 others(32): Show a0001c0001t0004g0001 a0001c0001t0004g0010 a0001c0001t0004g0015 a0001c0001t0004g0019 a0001c0001t0004g0200 a0001c0001t0004g0202 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0224 a0001c0001t0004g0226 a0001c0001t0004g0237 a0001c0001t0004g0240 a0001c0001t0009g0111 a0001c0001t0009g0112 a0001c0001t0009g0113 a0001c0001t0009g0134 a0001c0001t0009g0173 a0001c0001t0023g0222 a0001c0001t0023g0241 a0001c0001t0025g0029 a0001c0001t0026g0196 a0001c0001t0026g0239 a0001c0001t0038g0229 a0001c0001t0046g0223 a0001c0001t0047g0001 a0001c0001t0048g0001 a0001c0001t0049g0225 a0001c0001t0050g0201 a0001c0001t0086g0110 a0001c0002t0027g0189 a0001c0002t0027g0190	51	346	0.1474	47	c.73 others(58): Show c.7322_*7323insTCAGCCCCCGCCCGGCCAGCAGCCCCGTCCGGGA GGGAGGTCGGGGA		MTMR9	ENSG00000104643.10	transcript	ENST00000221086.8	protein_coding					1965		chr8	TogoVar
MTR_chr1_236790292_236908981	236908753	C C	CCCCAAAT others(40): Show CCCCAAATACACTAAATTATACTTGCATTAATGTCTTAGTCCATTACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	370	0.0027	47	c.11 others(60): Show c.11109_*11110insCCCAAATACACTAAATTATACTTGCATTAATG TCTTAGTCCATTACA		MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding					4773		chr1	TogoVar
MTUS1_chr8_17638802_17806094	17767700	T T	TAAGAAAA others(40): Show TAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp2 HG02717.hp1 HG02895.hp2	a0011 a0011	a0011c0030 a0011c0046 a0011c0030 a0011c0046	a0011c0030t0013 a0011c0046t0001 a0011c0030t0013 a0011c0046t0001	a0011c0030t0013g0180 a0011c0046t0001g0179 a0011c0030t0013g0180 a0011c0046t0001g0179	2	205	0.0098	47	c.-15 others(68): Show c.-154-11740_-154-11739insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTCTT		MTUS1	ENSG00000129422.15	transcript	ENST00000693296.1	protein_coding	1/14						chr8	TogoVar
MUC4_chr3_195741771_195816929	195784727	C C	CCTGTGGA others(40): Show CCTGTGGATGCTGAGGAAGTTGTCGGTGACAAGAAGAGGGATGGCGTG	frameshift_variant frameshift_variant	HIGH	NA18955.hp1 NA18955.hp1	a0105 a0105	a0105c0157 a0105c0157	a0105c0157t0003 a0105c0157t0003	a0105c0157t0003g0212 a0105c0157t0003g0212	1	243	0.0041	47	c.685 others(56): Show c.6852_6853insCACGCCATCCCTCTTCTTGTCACCGACAACTTCCTC AGCATCCACAG	p.Asp others(6): Show p.Asp2285fs	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	6964/16756	6852/16239	2284/5412			chr3	TogoVar
MXRA5_chrX_3303565_3351652	3315373	A A	ATAGATAG others(40): Show ATAGATAGATGAAATAGGTAGAAGGATGGATAGATGATGGATAGATAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01167.hp1 others(15): Show HG00735.hp2 HG01070.hp2 HG01167.hp1 HG01169.hp1 HG02273.hp1 HG02293.hp1 HG02735.hp1 HG02895.hp1 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG04204.hp1 NA18522.hp1 NA18939.hp1 NA18986.hp1 NA18994.hp1 NA19080.hp2 NA19090.hp1	a0001 a0007 a0011 others(2): Show a0001 a0007 a0011 a0013 a0025	a0001c0001 a0007c0007 a0011c0012 others(2): Show a0001c0001 a0007c0007 a0011c0012 a0013c0010 a0025c0018	a0001c0001t0001 a0001c0001t0005 a0007c0007t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0007c0007t0001 a0011c0012t0001 a0013c0010t0001 a0025c0018t0007	a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0071 others(15): Show a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0135 a0001c0001t0001g0158 a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0005g0039 a0007c0007t0001g0162 a0007c0007t0001g0163 a0011c0012t0001g0116 a0013c0010t0001g0232 a0013c0010t0001g0243 a0025c0018t0007g0124	18	134	0.1343	47	c.657 others(66): Show c.6578+1729_6578+1730insCTATCTATCCATCATCTATCCATCCT TCTACCTATTTCATCTATCTA		MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	6/6						chrX	TogoVar
MXRA5_chrX_3303565_3351652	3315373	A A	ATAGATGA others(40): Show ATAGATGAAATAGGTAGAAGGATGGATAGATGATGGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00609.hp1 others(31): Show HG00140.hp1 HG00323.hp2 HG00609.hp1 HG00741.hp2 HG01074.hp1 HG01123.hp1 HG01257.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02109.hp2 HG02165.hp2 HG03516.hp2 HG03669.hp1 HG03834.hp1 HG04184.hp2 HG04199.hp1 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18947.hp2 NA18955.hp1 NA18965.hp1 NA18968.hp2 NA18970.hp1 NA18977.hp1 NA18983.hp1 NA19065.hp2 NA19066.hp1 NA21309.hp1	a0001 a0003 a0008 others(4): Show a0001 a0003 a0008 a0016 a0017 a0027 a0032	a0001c0001 a0003c0003 a0008c0006 others(4): Show a0001c0001 a0003c0003 a0008c0006 a0016c0028 a0017c0040 a0027c0029 a0032c0034	a0001c0001t0001 a0003c0003t0001 a0008c0006t0001 others(4): Show a0001c0001t0001 a0003c0003t0001 a0008c0006t0001 a0016c0028t0001 a0017c0040t0001 a0027c0029t0001 a0032c0034t0001	a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0234 others(25): Show a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0248 a0003c0003t0001g0001 a0003c0003t0001g0016 a0003c0003t0001g0174 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0191 a0003c0003t0001g0194 a0003c0003t0001g0196 a0003c0003t0001g0203 a0003c0003t0001g0208 a0003c0003t0001g0213 a0003c0003t0001g0218 a0003c0003t0001g0219 a0008c0006t0001g0025 a0008c0006t0001g0054 a0016c0028t0001g0192 a0017c0040t0001g0171 a0027c0029t0001g0211 a0032c0034t0001g0118	34	150	0.2267	47	c.657 others(66): Show c.6578+1729_6578+1730insCTATCTATCTATCCATCATCTATCCA TCCTTCTACCTATTTCATCTA		MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	6/6						chrX	TogoVar
MYBL2_chr20_43662114_43721482	43672229	C C	CTGTACAC others(40): Show CTGTACACTGATTTTTCTCTCCATTAATTATGCCTGTGTGTAGGCAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00544.hp1 others(166): Show HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18959.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19058.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010	a0001c0001 a0001c0002 a0001c0011 others(10): Show a0001c0001 a0001c0002 a0001c0011 a0001c0015 a0002c0003 a0002c0004 a0003c0005 a0004c0006 a0005c0008 a0006c0009 a0007c0014 a0008c0016 a0010c0012	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0011t0001 a0001c0015t0001 a0002c0003t0001 a0002c0004t0001 a0003c0005t0001 a0004c0006t0002 a0005c0008t0001 a0006c0009t0001 a0007c0014t0001 a0008c0016t0003 a0010c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(158): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0105 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 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 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0004g0131 a0001c0002t0001g0086 a0001c0002t0001g0235 a0001c0011t0001g0257 a0001c0015t0001g0132 a0002c0003t0001g0217 a0002c0004t0001g0011 a0002c0004t0001g0012 a0002c0004t0001g0013 a0002c0004t0001g0170 a0003c0005t0001g0115 a0003c0005t0001g0117 a0003c0005t0001g0118 a0003c0005t0001g0119 a0003c0005t0001g0120 a0003c0005t0001g0121 a0003c0005t0001g0122 a0003c0005t0001g0123 a0003c0005t0001g0258 a0004c0006t0002g0005 a0004c0006t0002g0101 a0004c0006t0002g0102 a0004c0006t0002g0103 a0004c0006t0002g0104 a0005c0008t0001g0112 a0005c0008t0001g0114 a0005c0008t0001g0116 a0006c0009t0001g0148 a0006c0009t0001g0231 a0007c0014t0001g0113 a0008c0016t0003g0252 a0010c0012t0001g0243	169	271	0.6236	47	c.21- others(62): Show c.21-1531_21-1530insTTGTACACTGATTTTTCTCTCCATTAATTA TGCCTGTGTGTAGGCAA		MYBL2	ENSG00000101057.16	transcript	ENST00000217026.5	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYBL2_chr20_43662114_43721482	43672229	C C	CTGTACTC others(40): Show CTGTACTCTGATTTTTCTCTCCATTAATTATGCCTGTGTGTAGGCAAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	103	0.0097	47	c.21- others(62): Show c.21-1572_21-1571insTCTGATTTTTCTCTCCATTAATTATGCCTG TGTGTAGGCAATTGTAC		MYBL2	ENSG00000101057.16	transcript	ENST00000217026.5	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYBPC1_chr12_101589971_101691028	101591801	C C	CTTCTTCT others(40): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	294	0.0034	47	c.-32 others(58): Show c.-3270_-3269insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCCTCTTCCT		MYBPC1	ENSG00000196091.15	transcript	ENST00000361466.7	protein_coding					3169		chr12	TogoVar
MYD88_chr3_38133661_38148022	38147052	G G	GGGGGGGG others(40): Show GGGGGGGGGGGGGGGGGTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	406	0.0025	47	c.57 others(58): Show c.5766_*5767insGGGGGGGGGGGGGGGGTCCCCCCCCCCCCCCCCC CCCCCCCCCCCCC		MYD88	ENSG00000172936.18	transcript	ENST00000650905.2	protein_coding					4031		chr3	TogoVar
MYDGF_chr19_4652545_4675342	4663771	C C	CCCACCCA others(40): Show CCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTGTGCCCTCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	381	0.0026	47	c.287 others(64): Show c.287+1058_287+1104dupAGAGGGCACAGATTGGAGGCTGTGTAGA ATGAGGATGGGGTGGGTGG		MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5						chr19	TogoVar
MYNN_chr3_169768396_169794716	169770629	C C	CATAAATA others(40): Show CATAAATATAAATATATAAAAATTTATATTTATATATCATAAATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02451.hp2 HG02572.hp2 HG02132.hp2 HG02451.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0003g0009 a0001c0001t0005g0012 a0001c0001t0006g0036 a0001c0001t0003g0009 a0001c0001t0005g0012 a0001c0001t0006g0036	3	308	0.0097	47	c.-28 others(58): Show c.-2865_-2864insATAAATATAAATATATAAAAATTTATATTTATAT ATCATAAATATAA		MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding					2766		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770629	C C	CGTAAATA others(40): Show CGTAAATATAAATATATAAAAATTTATATTTATATATCGTAAATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02922.hp1 HG02976.hp2 others(1): Show HG01243.hp1 HG02922.hp1 HG02976.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	4	309	0.0129	47	c.-28 others(58): Show c.-2865_-2864insGTAAATATAAATATATAAAAATTTATATTTATAT ATCGTAAATATAA		MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding					2766		chr3	TogoVar
MYO10_chr5_16656907_16941288	16679524	G G	GTTTTTTT others(40): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0016 a0016	a0016c0027 a0016c0027	a0016c0027t0110 a0016c0027t0110	a0016c0027t0110g0170 a0016c0027t0110g0170	1	72	0.0139	47	c.454 others(64): Show c.4542+422_4542+423insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA		MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	33/40						chr5	TogoVar
MYO16_chr13_108624611_109213005	109075381	C C	CTTGTGAC others(40): Show CTTGTGACTTTTCTTTGCATTTCTCTAATGACTAATGTTGAGCATCTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG00621.hp2 others(62): Show HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18950.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18989.hp1 NA18995.hp1 NA19057.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19085.hp1 NA19085.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0022 a0026 a0027 a0028 a0030 a0031	a0001c0002 a0001c0005 a0001c0007 others(34): Show a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0045 a0001c0065 a0001c0066 a0002c0001 a0003c0004 a0003c0019 a0003c0042 a0003c0044 a0004c0003 a0004c0026 a0004c0028 a0005c0013 a0005c0037 a0006c0034 a0007c0014 a0007c0023 a0007c0058 a0009c0040 a0010c0012 a0012c0021 a0013c0011 a0014c0049 a0015c0056 a0016c0031 a0017c0048 a0019c0047 a0022c0071 a0026c0039 a0027c0043 a0028c0030 a0030c0029 a0031c0055	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(45): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0015 a0001c0002t0017 a0001c0005t0001 a0001c0007t0001 a0001c0008t0004 a0001c0008t0011 a0001c0010t0001 a0001c0045t0006 a0001c0065t0006 a0001c0066t0004 a0002c0001t0002 a0002c0001t0004 a0002c0001t0012 a0003c0004t0001 a0003c0004t0002 a0003c0019t0002 a0003c0042t0013 a0003c0044t0002 a0004c0003t0001 a0004c0003t0002 a0004c0003t0005 a0004c0026t0002 a0004c0028t0001 a0005c0013t0003 a0005c0037t0016 a0006c0034t0001 a0007c0014t0013 a0007c0023t0001 a0007c0058t0005 a0009c0040t0004 a0010c0012t0012 a0012c0021t0009 a0013c0011t0001 a0014c0049t0002 a0015c0056t0001 a0016c0031t0001 a0017c0048t0001 a0019c0047t0002 a0022c0071t0003 a0026c0039t0001 a0027c0043t0005 a0028c0030t0003 a0030c0029t0001 a0031c0055t0002	a0001c0002t0001g0043 a0001c0002t0002g0002 a0001c0002t0002g0008 others(62): Show a0001c0002t0001g0043 a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0109 a0001c0002t0003g0028 a0001c0002t0004g0033 a0001c0002t0004g0047 a0001c0002t0015g0038 a0001c0002t0017g0102 a0001c0005t0001g0010 a0001c0005t0001g0015 a0001c0005t0001g0069 a0001c0005t0001g0098 a0001c0007t0001g0011 a0001c0008t0004g0016 a0001c0008t0004g0058 a0001c0008t0011g0049 a0001c0010t0001g0128 a0001c0010t0001g0129 a0001c0045t0006g0051 a0001c0065t0006g0072 a0001c0066t0004g0063 a0002c0001t0002g0005 a0002c0001t0002g0059 a0002c0001t0002g0088 a0002c0001t0002g0130 a0002c0001t0002g0144 a0002c0001t0004g0014 a0002c0001t0012g0136 a0003c0004t0001g0089 a0003c0004t0002g0053 a0003c0004t0002g0090 a0003c0004t0002g0092 a0003c0004t0002g0105 a0003c0019t0002g0095 a0003c0019t0002g0151 a0003c0042t0013g0099 a0003c0044t0002g0148 a0004c0003t0001g0086 a0004c0003t0001g0114 a0004c0003t0002g0083 a0004c0003t0005g0149 a0004c0026t0002g0122 a0004c0028t0001g0062 a0005c0013t0003g0029 a0005c0037t0016g0133 a0006c0034t0001g0009 a0007c0014t0013g0004 a0007c0023t0001g0115 a0007c0058t0005g0080 a0009c0040t0004g0113 a0010c0012t0012g0013 a0012c0021t0009g0082 a0013c0011t0001g0117 a0014c0049t0002g0025 a0015c0056t0001g0057 a0016c0031t0001g0123 a0017c0048t0001g0026 a0019c0047t0002g0150 a0022c0071t0003g0065 a0026c0039t0001g0138 a0027c0043t0005g0077 a0028c0030t0003g0096 a0030c0029t0001g0124 a0031c0055t0002g0023	65	129	0.5039	47	c.333 others(68): Show c.3335+19788_3335+19789insGTGACTTTTCTTTGCATTTCTCTA ATGACTAATGTTGAGCATCTTTT		MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	27/34					INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO1G_chr7_44957662_44984015	44960926	A A	AGGGCTAA others(40): Show AGGGCTAAGGGCTGAGGGGCTGATGGGGCTGAGGGCTGAGGGGCTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0003 a0012c0016t0003	a0012c0016t0003g0118 a0012c0016t0003g0118	1	376	0.0027	47	c.18 others(58): Show c.1812_*1813insCTCAGCCCCTCAGCCCTCAGCCCCATCAGCCCCT CAGCCCTTAGCCC		MYO1G	ENSG00000136286.16	transcript	ENST00000258787.12	protein_coding					1735		chr7	TogoVar
MYO1G_chr7_44957662_44984015	44961609	A A	AGGCTGAG others(40): Show AGGCTGAGGGCTGAGGGGCTGAGGGGTTGAGGAGGCTGAGGGCTGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0003 a0012c0016t0003	a0012c0016t0003g0118 a0012c0016t0003g0118	1	364	0.0027	47	c.11 others(58): Show c.1129_*1130insCCTCAGCCCTCAGCCTCCTCAACCCCTCAGCCCC TCAGCCCTCAGCC		MYO1G	ENSG00000136286.16	transcript	ENST00000258787.12	protein_coding					1052		chr7	TogoVar
MYO3B_chr2_170173147_170660167	170649142	A A	AATATATT others(40): Show AATATATTATATATAAAATAATATATAATATATTATATATAAAATAAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03017.hp1 HG03491.hp1 others(1): Show HG02083.hp2 HG03017.hp1 HG03491.hp1 NA19086.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0015 a0004c0022 a0001c0001 a0003c0015 a0004c0022	a0001c0001t0001 a0003c0015t0001 a0004c0022t0005 a0001c0001t0001 a0003c0015t0001 a0004c0022t0005	a0001c0001t0001g0065 a0001c0001t0001g0066 a0003c0015t0001g0022 others(1): Show a0001c0001t0001g0065 a0001c0001t0001g0066 a0003c0015t0001g0022 a0004c0022t0005g0020	4	162	0.0247	47	c.373 others(66): Show c.3734-2365_3734-2319dupATATATTATATATAAAATAATATATA TTATATATAAAATAATATATA		MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34					INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO5C_chr15_52187322_52300804	52286210	C C	CGGGAGGG others(40): Show CGGGAGGGAGGTGGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0015 a0013c0015t0015	a0013c0015t0015g0039 a0013c0015t0015g0039	1	358	0.0028	47	c.28- others(62): Show c.28-3319_28-3318insAGACGGGGCGGCTGGCCTGGCGGGGGCTGA CCCCCCACCTCCCTCCC		MYO5C	ENSG00000128833.13	transcript	ENST00000261839.12	protein_coding	1/40						chr15	TogoVar
MYO9A_chr15_71817291_72123150	71956330	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0019 a0008c0008t0019	a0008c0008t0019g0112 a0008c0008t0019g0112	1	67	0.0149	47	c.218 others(66): Show c.2182+3570_2182+3571insATATATATATATATATATATATATAT ATATATATATATATATATATA		MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	14/41						chr15	TogoVar
MYOF_chr10_93301429_93487334	93478832	A A	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01167.hp1 others(15): Show HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02622.hp1 HG02735.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03942.hp1 NA18522.hp2 NA20129.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0009 a0015 a0019	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0001c0017 a0002c0010 a0003c0007 a0004c0006 a0005c0014 a0009c0025 a0015c0039 a0019c0028	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(8): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0017t0001 a0002c0010t0001 a0003c0007t0001 a0004c0006t0001 a0005c0014t0001 a0009c0025t0001 a0015c0039t0001 a0019c0028t0006	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0003t0001g0061 others(15): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0003t0001g0061 a0001c0003t0001g0064 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0005t0001g0024 a0001c0017t0001g0025 a0001c0017t0001g0060 a0002c0010t0001g0065 a0002c0010t0001g0066 a0003c0007t0001g0062 a0004c0006t0001g0023 a0005c0014t0001g0063 a0009c0025t0001g0022 a0015c0039t0001g0069 a0019c0028t0006g0121	18	170	0.1059	47	c.88+ others(62): Show c.88+3274_88+3275insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT		MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53						chr10	TogoVar
MYOF_chr10_93301429_93487334	93478836	A A	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18977.hp2 NA19003.hp1 others(2): Show NA18950.hp1 NA18977.hp2 NA19003.hp1 NA19010.hp1 NA19066.hp1	a0001 a0008 a0024 a0001 a0008 a0024	a0001c0002 a0001c0003 a0008c0031 others(1): Show a0001c0002 a0001c0003 a0008c0031 a0024c0044	a0001c0002t0001 a0001c0003t0001 a0008c0031t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0008c0031t0001 a0024c0044t0001	a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0003t0001g0034 others(2): Show a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0003t0001g0034 a0008c0031t0001g0033 a0024c0044t0001g0001	5	79	0.0633	47	c.88+ others(62): Show c.88+3270_88+3271insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT		MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53						chr10	TogoVar
MYOM2_chr8_2040046_2150456	2040161	T T	TGGTGAGT others(40): Show TGGTGAGTGGTGGGGGGGTAGGGGGTGGGGGGTTGGTTGGGGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0109 a0003c0001t0001g0109	1	402	0.0025	47	c.-50 others(58): Show c.-5020_-5019insGGTGAGTGGTGGGGGGGTAGGGGGTGGGGGGTTG GTTGGGGGGGGGA		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding					4884		chr8	TogoVar
MYOZ2_chr4_119130832_119192789	119134252	A A	AGATAGAT others(40): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	1	391	0.0026	47	c.-17 others(58): Show c.-1745_-1744insGATAGATAGATAGATAGATAGATAGATAGATAGA TAGATAGATAGAT		MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding					1579		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134260	A A	AGATAGAT others(40): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	323	0.0031	47	c.-17 others(58): Show c.-1737_-1736insGATAGATAGATAGATAGATAGATAGATAGATAGA TAGATAGATAGAT		MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding					1571		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134264	A A	AGATAGAT others(40): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 NA18970.hp2 HG00544.hp2 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0002 a0001c0002t0001 a0002c0003t0002	a0001c0002t0001g0033 a0002c0003t0002g0009 a0001c0002t0001g0033 a0002c0003t0002g0009	2	251	0.0080	47	c.-17 others(58): Show c.-1733_-1732insGATAGATAGATAGATAGATAGATAGATAGATAGA TAGATAGATGGAT		MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding					1567		chr4	TogoVar
MYRFL_chr12_69820227_69964097	69877024	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02135.hp2 HG02572.hp2 others(4): Show HG01433.hp1 HG02135.hp2 HG02572.hp2 HG03471.hp2 HG03486.hp1 NA18966.hp2 NA18995.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0010c0014	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001 a0002c0005t0002 a0010c0014t0001	a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0003g0248 others(4): Show a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0003g0248 a0001c0003t0001g0310 a0002c0002t0001g0259 a0002c0005t0002g0284 a0010c0014t0001g0144	7	153	0.0458	47	c.138 others(64): Show c.138-2002_138-2001insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT		MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr12	TogoVar
MYT1L_chr2_1784113_2336275	1931315	C C	CACTTCCT others(40): Show CACTTCCTCCACCCTCAGCGATGCCCATGTCTGCTGCGCCTTGCAAGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp2 HG02615.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0019 a0001c0001t0002 a0001c0009t0019	a0001c0001t0002g0090 a0001c0009t0019g0063 a0001c0001t0002g0090 a0001c0009t0019g0063	2	102	0.0196	47	c.506 others(64): Show c.506-8099_506-8053dupACTTGCAAGGCGCAGCAGACATGGGCAT CGCTGAGGGTGGAGGAAGT		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	9/24						chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262932	A A	ATATATAT others(40): Show ATATATATATATATATATATATAACCTGTGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0069 a0001c0007t0002g0069	1	51	0.0196	47	c.-42 others(68): Show c.-421+21471_-421+21472insATATATATATATATATATCACAGG TTATATATATATATATATATATA		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24						chr2	TogoVar
MYT1_chr20_64159452_64247253	64173733	C C	CCTGTAGC others(40): Show CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01123.hp2 HG01168.hp1 others(8): Show HG00597.hp1 HG01123.hp2 HG01168.hp1 HG02165.hp1 HG02165.hp2 HG02922.hp2 HG02965.hp1 HG03579.hp1 HG03704.hp2 HG04184.hp2 HG04204.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0005c0016	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0005 a0001c0003t0007 a0001c0004t0004 a0005c0016t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 others(8): Show a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0196 a0001c0001t0003g0164 a0001c0002t0002g0113 a0001c0002t0005g0061 a0001c0002t0005g0062 a0001c0003t0007g0184 a0001c0004t0004g0209 a0005c0016t0001g0202	11	222	0.0495	47	c.-99 others(64): Show c.-99+8996_-99+8997insGTAGCATCTTTCCCTGTAGTTGTGTCCA TTTCCCCTCCCTGGCTTCT		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174345	G G	GTAGTTGT others(40): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03579.hp1 HG02622.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0108 a0001c0002t0002g0113 a0001c0002t0002g0108 a0001c0002t0002g0113	2	179	0.0112	47	c.-99 others(64): Show c.-99+9641_-99+9642insTAGCATCTTTCCTAGTTGTGTCCATTTC CCCTCCCTGGCTTCTCCTG		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174630	C C	CCTGCAGC others(40): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp2 NA19240.hp1 others(1): Show HG02965.hp2 HG03041.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0095 a0001c0002t0002g0003 a0001c0002t0002g0071 a0001c0001t0003g0095 a0001c0002t0002g0003 a0001c0002t0002g0071	4	155	0.0258	47	c.-99 others(64): Show c.-99+9893_-99+9894insGCAGCATCTTTCCCTGTAGTTGTGTCCA TTTCCCCTCCCTGGCTTCT		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174630	C C	CCTGTAGC others(40): Show CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02723.hp2 NA18747.hp1 others(2): Show HG02074.hp2 HG02723.hp2 NA18747.hp1 NA18950.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0010 a0001c0003t0007 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0003t0007 a0001c0004t0004	a0001c0001t0001g0179 a0001c0001t0001g0195 a0001c0001t0010g0218 others(2): Show a0001c0001t0001g0179 a0001c0001t0001g0195 a0001c0001t0010g0218 a0001c0003t0007g0205 a0001c0004t0004g0182	5	156	0.0321	47	c.-99 others(64): Show c.-99+9893_-99+9894insGTAGCATCTTTCCCTGTAGTTGTGTCCA TTTCCCCTCCCTGGCTTCT		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174881	T T	TAGCATCT others(40): Show TAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGC	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA20805.hp2 HG03490.hp1 NA20805.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0056 a0001c0004t0004g0073 a0001c0004t0004g0056 a0001c0004t0004g0073	2	145	0.0138	47	c.-99 others(66): Show c.-99+10153_-99+10154insTAGTTGTGTCCATTTCCCCTCCCTGG CTTCTCCTGCAGCATCTTTCC		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174910	T T	TCCCCTCC others(40): Show TCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	214	0.0047	47	c.-99 others(66): Show c.-99+10191_-99+10192insTAGCATCTTTCCTAGTTGTGTCCATT CCCCCTCCCTGGCTTCTCCTG		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174945	G G	GTTGTGTC others(40): Show GTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCATCTTTCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0147	1	221	0.0045	47	c.-99 others(66): Show c.-99+10207_-99+10208insTGTGTCCATTTCCCCTCCCTGGCGTC TCCTCCTGCAGCATCTTTCCT		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174995	G G	GTAGTTGT others(40): Show GTAGTTGTGCCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03669.hp2 HG03704.hp1 others(2): Show HG02129.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0016 a0001c0002t0002 a0001c0004t0004 a0001c0001t0016 a0001c0002t0002 a0001c0004t0004	a0001c0001t0016g0043 a0001c0002t0002g0036 a0001c0002t0002g0047 others(2): Show a0001c0001t0016g0043 a0001c0002t0002g0036 a0001c0002t0002g0047 a0001c0004t0004g0037 a0001c0004t0004g0038	5	221	0.0226	47	c.-99 others(66): Show c.-99+10264_-99+10265insCCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTG		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar

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