Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MYLK_chr3_123605049_123889332	123607420	T T	TTATAATA others(24): Show TTATAATATATAATTTTATATAATATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0143 a0001c0006t0014g0143	1	141	0.0071	31	c.66 others(42): Show c.6684_*6685insTATTATATATTATATAAAATTATATATTATA	MYLK	ENSG00000065534.20	transcript	ENST00000360304.8	protein_coding		2628		chr3	TogoVar
MYLK_chr3_123605049_123889332	123607420	T T	TTATAATA others(24): Show TTATAATATATAATTTTATATTATATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00673.hp2 HG01943.hp2 others(6): Show HG00323.hp1 HG00673.hp2 HG01943.hp2 HG02886.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03942.hp1 NA19057.hp2	a0001 a0004 a0010 others(3): Show a0001 a0004 a0010 a0015 a0016 a0046	a0001c0004 a0001c0005 a0001c0024 others(5): Show a0001c0004 a0001c0005 a0001c0024 a0004c0012 a0010c0074 a0015c0062 a0016c0037 a0046c0063	a0001c0004t0006 a0001c0005t0017 a0001c0024t0006 others(6): Show a0001c0004t0006 a0001c0005t0017 a0001c0024t0006 a0004c0012t0014 a0004c0012t0017 a0010c0074t0014 a0015c0062t0006 a0016c0037t0027 a0046c0063t0006	a0001c0004t0006g0019 a0001c0005t0017g0005 a0001c0024t0006g0099 others(6): Show a0001c0004t0006g0019 a0001c0005t0017g0005 a0001c0024t0006g0099 a0004c0012t0014g0156 a0004c0012t0017g0105 a0010c0074t0014g0144 a0015c0062t0006g0028 a0016c0037t0027g0013 a0046c0063t0006g0054	9	149	0.0604	31	c.66 others(42): Show c.6684_*6685insTATTATATATAATATAAAATTATATATTATA	MYLK	ENSG00000065534.20	transcript	ENST00000360304.8	protein_coding		2628		chr3	TogoVar
MYLK_chr3_123605049_123889332	123607479	A A	ATATATAA others(24): Show ATATATAATATATATTTTATAATATATAATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0014 a0014	a0014c0048 a0014c0048	a0014c0048t0043 a0014c0048t0043	a0014c0048t0043g0128 a0014c0048t0043g0128	1	149	0.0067	31	c.66 others(42): Show c.6625_*6626insAAATTATATATTATAAAATATATATTATATA	MYLK	ENSG00000065534.20	transcript	ENST00000360304.8	protein_coding		2569		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770425	T T	TATAAATA others(24): Show TATAAATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01168.hp1 HG01169.hp1 others(3): Show HG01123.hp2 HG01168.hp1 HG01169.hp1 HG02698.hp2 HG03017.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0001 a0001c0001t0001g0010	6	348	0.0172	31	c.-30 others(42): Show c.-3069_-3068insATAAATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2970		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770536	T T	TATAAATA others(24): Show TATAAATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG02630.hp2 HG02818.hp2 others(2): Show HG00140.hp1 HG02630.hp2 HG02818.hp2 HG02965.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0066	5	347	0.0144	31	c.-29 others(42): Show c.-2958_-2957insATAAATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2859		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771261	A A	ATCATAAA others(24): Show ATCATAAATATATAAAAAATTATATTTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	348	0.0029	31	c.-22 others(42): Show c.-2233_-2232insTCATAAATATATAAAAAATTATATTTATATG	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2134		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771263	C C	CATAAATA others(24): Show CATAAATATATAAAAAATTATATTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG00735.hp2 others(47): Show HG00558.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01993.hp2 HG02040.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02300.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02738.hp1 HG02818.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG04199.hp1 NA18947.hp1 NA18959.hp2 NA18965.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18992.hp2 NA18994.hp2 NA19002.hp1 NA19003.hp1 NA19009.hp1 NA19058.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp1 NA19081.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0002g0077 a0001c0001t0010g0070 a0001c0001t0013g0001 a0001c0002t0001g0044	50	216	0.2315	31	c.-22 others(42): Show c.-2231_-2230insATAAATATATAAAAAATTATATTTATATATA	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2132		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771263	C C	CATAAATA others(24): Show CATAAATATATAAAAAATTATGTTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG04228.hp2 HG03579.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0068 a0001c0001t0002g0071 a0001c0001t0001g0068 a0001c0001t0002g0071	2	168	0.0119	31	c.-22 others(42): Show c.-2231_-2230insATAAATATATAAAAAATTATGTTTATATATA	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2132		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771356	A A	AATATAAA others(24): Show AATATAAAAATTTATGTTTATATATAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA19009.hp1 NA18959.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	296	0.0068	31	c.-21 others(42): Show c.-2138_-2137insATATAAAAATTTATGTTTATATATAATAAAT	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2039		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771429	T T	TTGTTTAT others(24): Show TTGTTTATATATAATAAATATATAAAAATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19063.hp1 NA19055.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	156	0.0128	31	c.-20 others(42): Show c.-2065_-2064insTGTTTATATATAATAAATATATAAAAATTTA	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		1966		chr3	TogoVar
MYO16_chr13_108624611_109213005	109010976	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	150	0.0067	31	c.259 others(50): Show c.2595+1927_2595+1928insATATATATATATATATATATATATAT ATATA	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	22/34			chr13	TogoVar
MYO16_chr13_108624611_109213005	109176577	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0050 a0008c0006t0001g0050	1	28	0.0357	31	c.532 others(50): Show c.5324-2941_5324-2940insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	33/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO1D_chr17_32487522_32882124	32818125	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0070 a0001c0001t0005g0070	1	68	0.0147	31	c.96- others(48): Show c.96-37342_96-37341insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	1/21			chr17	TogoVar
MYO1E_chr15_59127434_59377871	59319550	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0042 a0001c0007t0042	a0001c0007t0042g0096 a0001c0007t0042g0096	1	25	0.0400	31	c.4-4 others(46): Show c.4-47132_4-47102dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1G_chr7_44957662_44984015	44961571	G G	GCTGAGGG others(24): Show GCTGAGGGCTGAGGGGGTTAAGGGCTGAGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	367	0.0027	31	c.11 others(42): Show c.1167_*1168insGCCCTCAGCCCTTAACCCCCTCAGCCCTCAG	MYO1G	ENSG00000136286.16	transcript	ENST00000258787.12	protein_coding		1090		chr7	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0237 a0004c0009t0003g0237	1	72	0.0139	31	c.194 others(48): Show c.1949+324_1949+325insAAAAAAAAATATATATATATATATATAT ATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0120 a0002c0001t0001g0120	1	72	0.0139	31	c.194 others(48): Show c.1949+324_1949+325insAAAAATATATATATATATATATATATAT ATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18977.hp1 NA18957.hp2 NA18977.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0142 a0002c0001t0001g0171 a0002c0001t0001g0142 a0002c0001t0001g0171	2	73	0.0274	31	c.194 others(48): Show c.1949+324_1949+325insAAATATATATATATATATATATATATAT ATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0092 a0003c0002t0002g0092	1	72	0.0139	31	c.194 others(48): Show c.1949+323_1949+324insTATATATATATATATATATATATATATA TAT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31			chr12	TogoVar
MYO5A_chr15_52302283_52533880	52378515	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02074.hp1 HG02155.hp1 others(1): Show HG01099.hp2 HG02074.hp1 HG02155.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 others(1): Show a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0027g0156	4	34	0.1176	31	c.220 others(50): Show c.2208+1109_2208+1110insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71906758	C C	CTTTCTTT others(24): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	153	0.0065	31	c.268 others(50): Show c.2686-1753_2686-1752insAAAAAAAAAAAAAAAAAAAAAAAAAA AGAAA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	19/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA20300.hp2 NA19072.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0040 a0001c0001t0001 a0006c0007t0040	a0001c0001t0001g0123 a0006c0007t0040g0089 a0001c0001t0001g0123 a0006c0007t0040g0089	2	105	0.0190	31	c.256 others(50): Show c.2562+5613_2562+5614insAAATATATATATATATATATATATAT ATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	104	0.0096	31	c.256 others(50): Show c.2562+5613_2562+5614insAAAAATATATATATATATATATATAT ATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928057	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA18953.hp1 HG01070.hp1 NA18953.hp1	a0001 a0012 a0001 a0012	a0001c0002 a0012c0015 a0001c0002 a0012c0015	a0001c0002t0004 a0012c0015t0001 a0001c0002t0004 a0012c0015t0001	a0001c0002t0004g0073 a0012c0015t0001g0105 a0001c0002t0004g0073 a0012c0015t0001g0105	2	293	0.0068	31	c.256 others(50): Show c.2562+5612_2562+5613insTATATATATATATATATATATATATA TATAT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYOF_chr10_93301429_93487334	93406317	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0186 a0001c0003t0002g0186	1	238	0.0042	31	c.730 others(48): Show c.730-2099_730-2098insTATATATATATATATATATATATATATA TAT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	7/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93478832	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	153	0.0065	31	c.88+ others(46): Show c.88+3274_88+3275insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93478836	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	75	0.0133	31	c.88+ others(46): Show c.88+3270_88+3271insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93483368	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	16	0.0625	31	c.-11 others(42): Show c.-1175_-1174insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		1035		chr10	TogoVar
MYOM1_chr18_3061807_3224968	3086669	T T	TCACTTAG others(24): Show TCACTTAGATACACTAATCTTCTCATCATATC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0007 a0007	a0007c0158 a0007c0158	a0007c0158t0003 a0007c0158t0003	a0007c0158t0003g0205 a0007c0158t0003g0205	1	328	0.0030	31	c.413 others(48): Show c.4138-549_4138-519dupGATATGATGAGAAGATTAGTGTATCTAA GTG	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	29/37			chr18	TogoVar
MYOZ2_chr4_119130832_119192789	119134260	A A	AGATAGAT others(24): Show AGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02886.hp2 HG03516.hp1 others(1): Show HG00558.hp1 HG02886.hp2 HG03516.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0047 a0001c0001t0001g0048 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0002t0001g0017	4	326	0.0123	31	c.-17 others(42): Show c.-1737_-1736insGATAGATAGATAGATAGATAGATAGATAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1571		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134264	A A	AGATAGAT others(24): Show AGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01891.hp1 HG02129.hp2 others(13): Show HG00735.hp2 HG01891.hp1 HG02129.hp2 HG02486.hp2 HG02717.hp2 HG02922.hp2 HG03130.hp1 HG03195.hp2 NA18952.hp1 NA18953.hp2 NA18964.hp1 NA18989.hp2 NA19009.hp2 NA19056.hp2 NA19057.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0002t0002	a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0128 others(8): Show a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0128 a0001c0001t0003g0004 a0001c0001t0003g0137 a0001c0001t0003g0141 a0001c0001t0003g0144 a0001c0001t0003g0148 a0001c0001t0011g0020 a0001c0001t0013g0130 a0001c0002t0002g0302	16	265	0.0604	31	c.-17 others(42): Show c.-1733_-1732insGATAGATAGATAGATAGATAGATAGATAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1567		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134268	A A	AGATAGAT others(24): Show AGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01884.hp2 HG01978.hp2 others(10): Show HG01496.hp2 HG01884.hp2 HG01978.hp2 HG02145.hp2 HG02523.hp1 HG02698.hp1 HG03017.hp1 HG03486.hp2 NA18961.hp2 NA18965.hp1 NA19004.hp1 NA19067.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0244 a0001c0001t0001g0257 a0001c0001t0002g0021 others(9): Show a0001c0001t0001g0244 a0001c0001t0001g0257 a0001c0001t0002g0021 a0001c0001t0003g0031 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0177 a0001c0001t0003g0180 a0001c0001t0005g0029 a0001c0002t0001g0006	13	303	0.0429	31	c.-17 others(42): Show c.-1729_-1728insGATAGATAGATAGATAGATAGATAGATAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1563		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134272	A A	AGATAGAT others(24): Show AGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18969.hp1 NA18993.hp2 others(1): Show NA18963.hp1 NA18969.hp1 NA18993.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0042 a0001c0001t0005g0041 a0001c0001t0005g0288 others(1): Show a0001c0001t0002g0042 a0001c0001t0005g0041 a0001c0001t0005g0288 a0001c0001t0005g0291	4	367	0.0109	31	c.-17 others(42): Show c.-1725_-1724insGATAGATAGATAGATAGATAGATAGATAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1559		chr4	TogoVar
MYRFL_chr12_69820227_69964097	69891637	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0238 a0002c0011t0002g0238	1	144	0.0069	31	c.903 others(46): Show c.903+473_903+474insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0010 a0005c0008t0010	a0005c0008t0010g0011 a0005c0008t0010g0011	2	37	0.0541	31	c.68+ others(46): Show c.68+1882_68+1883insAAAAAAATATATATATATATATATATATAT A	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01515.hp2 NA18986.hp2 HG00140.hp2 HG01515.hp2 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0006 a0002c0005t0016 a0001c0001t0001 a0002c0005t0006 a0002c0005t0016	a0001c0001t0001g0004 a0002c0005t0006g0208 a0002c0005t0016g0039 a0001c0001t0001g0004 a0002c0005t0006g0208 a0002c0005t0016g0039	3	38	0.0789	31	c.68+ others(46): Show c.68+1882_68+1883insAAAAAAAAAAATATATATATATATATATAT A	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0116 a0002c0002t0005g0116	1	36	0.0278	31	c.68+ others(46): Show c.68+1882_68+1883insAAAAAAAAAAAAATATATATATATATATAT A	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0034 a0002c0005t0006g0034	1	36	0.0278	31	c.68+ others(46): Show c.68+1882_68+1883insAAAAAAAAAAAAAAATATATATATATATAT A	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYT1L_chr2_1784113_2336275	2253694	A A	AGCAAGTC others(24): Show AGCAAGTCGGAAACAGGAAGCGGGGCAGGAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02257.hp2 HG00438.hp1 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0026 a0001c0002 a0001c0026	a0001c0002t0001 a0001c0026t0004 a0001c0002t0001 a0001c0026t0004	a0001c0002t0001g0060 a0001c0026t0004g0019 a0001c0002t0001g0060 a0001c0026t0004g0019	2	101	0.0198	31	c.-42 others(52): Show c.-421+30679_-421+30709dupCCTCCTGCCCCGCTTCCTGTTTCC GACTTGC	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYZAP_chr15_57586904_57690364	57688130	T T	TATAATAT others(24): Show TATAATATGTGTGTACAATATACACATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	315	0.0032	31	c.36 others(42): Show c.3632_*3633insATAATATGTGTGTACAATATACACATATATA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2767		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57689346	A A	ATATATAT others(24): Show ATATATATTATATATAGTATATAATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	350	0.0029	31	c.48 others(42): Show c.4848_*4849insTATATATTATATATAGTATATAATATATACG	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3983		chr15	TogoVar
N4BP2L2_chr13_32505292_32543795	32527969	A A	ACCATGTT others(24): Show ACCATGTTGGTCAGGCTGGTGTTGAACTCCTG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0212 a0001c0001t0021g0212	1	392	0.0026	31	c.126 others(48): Show c.1260-468_1260-438dupCAGGAGTTCAACACCAGCCTGACCAACA TGG	N4BP2L2	ENSG00000244754.9	transcript	ENST00000267068.6	protein_coding	2/5			chr13	TogoVar
N4BP2L2_chr13_32505292_32543795	32540970	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	103	0.0097	31	c.-23 others(42): Show c.-2354_-2353insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	N4BP2L2	ENSG00000244754.9	transcript	ENST00000267068.6	protein_coding		2176		chr13	TogoVar
NAALAD2_chr11_90129663_90197894	90155305	G G	GTATATAT others(24): Show GTATATATTATATATAATATATAATGTATAAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03453.hp2 HG02896.hp2 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0005 a0001c0006t0004 a0001c0006t0005	a0001c0006t0004g0322 a0001c0006t0005g0323 a0001c0006t0004g0322 a0001c0006t0005g0323	2	362	0.0055	31	c.796 others(48): Show c.796+2829_797-2802dupTATATATAATATATAATGTATAATTATA TAT	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
NABP1_chr2_191673136_191691943	191690439	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	53	0.0189	31	c.46 others(42): Show c.4671_*4672insTATATATATATATATATATATTTTTTTTTTT	NABP1	ENSG00000173559.15	transcript	ENST00000425611.9	protein_coding		3497		chr2	TogoVar
NALF1_chr13_107158510_107872496	107248896	G G	GACTGTTT others(24): Show GACTGTTTTGTACTGTTCAAATTCAAAACAGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG02647.hp2 others(5): Show HG00642.hp2 HG01109.hp1 HG02647.hp2 HG02976.hp2 HG03098.hp1 HG03209.hp2 HG03453.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0029 a0001c0001t0063 a0001c0001t0070 others(5): Show a0001c0001t0029 a0001c0001t0063 a0001c0001t0070 a0001c0001t0078 a0001c0001t0087 a0001c0002t0004 a0001c0002t0017 a0001c0002t0038	a0001c0001t0029g0006 a0001c0001t0063g0034 a0001c0001t0070g0048 others(5): Show a0001c0001t0029g0006 a0001c0001t0063g0034 a0001c0001t0070g0048 a0001c0001t0078g0092 a0001c0001t0087g0105 a0001c0002t0004g0070 a0001c0002t0017g0002 a0001c0002t0038g0071	8	128	0.0625	31	c.916 others(50): Show c.916-38142_916-38141insACTGTTTTGAATTTGAACAGTACAAA ACAGT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107340475	T T	TTCTTTCT others(24): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0066 a0001c0001t0053g0066	1	90	0.0111	31	c.916 others(52): Show c.916-129721_916-129720insGAGAAGAAAGAAAGAAAGAAAGAA AGAAAGA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107586635	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0011 a0001c0001t0022g0011	1	2	0.5000	31	c.915 others(52): Show c.915+279046_915+279047insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NAMPT_chr7_106243298_106289983	106267840	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19086.hp2 NA19060.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0153 a0001c0001t0001g0158	2	34	0.0588	31	c.743 others(46): Show c.743+593_743+623dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10			chr7	TogoVar
NAPEPLD_chr7_103094776_103154099	103099593	T T	TGTGTGTG others(24): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	363	0.0028	31	c.38 others(42): Show c.3835_*3836insCACACACACACACACACACACACACACACAC	NAPEPLD	ENSG00000161048.12	transcript	ENST00000465647.6	protein_coding		182		chr7	TogoVar

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