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
MYDGF_chr19_4652545_4675342	4663410	T T	TCTACCTT others(32): Show TCTACCTTCCCCACCCCATCCTCATTCTACAGCCTCCAAC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA20752.hp1 NA19060.hp1 NA20752.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0021 a0002c0003t0002g0021	2	407	0.0049	39	c.287 others(56): Show c.287+1465_287+1466insGTTGGAGGCTGTAGAATGAGGATGGGGT GGGGAAGGTAG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYH11_chr16_15698135_15862028	15712882	G G	GTTTTTTT others(32): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0001 a0005c0026t0001	a0005c0026t0001g0216 a0005c0026t0001g0218 a0005c0026t0001g0216 a0005c0026t0001g0218	2	101	0.0198	39	c.578 others(58): Show c.5786+2026_5786+2027insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	MYH11	ENSG00000133392.18	transcript	ENST00000300036.6	protein_coding	40/40			chr16	TogoVar
MYL11_chr16_30369802_30382991	30382300	C C	CCCTTCTT others(32): Show CCCTTCTTGGACGGACTGCCGGTGAGCCCTGGGTGCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0007 a0002c0003t0001g0007	1	302	0.0033	39	c.44 others(50): Show c.4400_*4401insCCTTCTTGGACGGACTGCCGGTGAGCCCTGGGTG CCCAA	MYL11	ENSG00000180209.12	transcript	ENST00000322861.12	protein_coding		4310		chr16	TogoVar
MYL9_chr20_36536519_36556447	36551624	C C	CTTCCCCC others(32): Show CTTCCCCCCCCTTTTTTTCCGATCCCCCGCCGTCCTCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	402	0.0025	39	c.23 others(50): Show c.2375_*2376insTTCCCCCCCCTTTTTTTCCGATCCCCCGCCGTCC TCTGT	MYL9	ENSG00000101335.10	transcript	ENST00000279022.7	protein_coding		178		chr20	TogoVar
MYO1F_chr19_8515778_8582442	8543930	G G	GTGCTGGT others(32): Show GTGCTGGTGGTGGTGCTGGTGCTGGTGGTGGTGATGGTGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	299	0.0033	39	c.152 others(56): Show c.1524+366_1524+367insGCACCATCACCACCACCAGCACCAGCAC CACCACCAGCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543951	G G	GTGGTGGT others(32): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	315	0.0032	39	c.152 others(56): Show c.1524+345_1524+346insGCACCACCAGCACCACCACCACCACCAC CACCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAAAAAA others(32): Show AAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0210 a0001c0004t0001g0210	1	72	0.0139	39	c.194 others(56): Show c.1949+324_1949+325insAAAAAAAAATATATATATATATATATAT ATATATATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAAAAAA others(32): Show AAAAAAAATATATATATATATATATATAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0174 a0002c0001t0001g0174	1	72	0.0139	39	c.194 others(56): Show c.1949+324_1949+325insAAAAAATATATATATATATATATATAAT ATATATATATA	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(32): Show AAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18963.hp1 HG00423.hp1 NA18963.hp1	a0002 a0010 a0002 a0010	a0002c0001 a0010c0015 a0002c0001 a0010c0015	a0002c0001t0001 a0010c0015t0001 a0002c0001t0001 a0010c0015t0001	a0002c0001t0001g0181 a0010c0015t0001g0155 a0002c0001t0001g0181 a0010c0015t0001g0155	2	73	0.0274	39	c.194 others(56): Show c.1949+324_1949+325insAAAAATATATATATATATATATATATAT ATATATATATA	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(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0164 a0002c0001t0001g0164	1	72	0.0139	39	c.194 others(56): Show c.1949+323_1949+324insTATATATATATATATATATATATATATA TATATATATAT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31			chr12	TogoVar
MYO3B_chr2_170173147_170660167	170632847	T T	TATAAACA others(32): Show TATAAACACCTCTATGCAAATAAACTAGAAAATCTAGAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp1 HG01099.hp2 others(27): Show HG00639.hp1 HG00673.hp1 HG01099.hp2 HG01934.hp1 HG01978.hp1 HG02055.hp1 HG02280.hp2 HG02523.hp1 HG02683.hp1 HG02976.hp1 HG03041.hp2 HG03453.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03710.hp1 NA18939.hp1 NA18950.hp2 NA18951.hp1 NA18957.hp2 NA18959.hp2 NA18972.hp1 NA18984.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19084.hp1 NA19086.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0012 a0024 a0029 a0031 a0032	a0001c0001 a0001c0002 a0001c0004 others(19): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0011 a0002c0006 a0002c0008 a0002c0010 a0003c0003 a0003c0071 a0004c0061 a0005c0012 a0005c0047 a0007c0009 a0008c0017 a0012c0045 a0012c0054 a0024c0072 a0029c0068 a0031c0080 a0032c0044	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(23): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0002t0003 a0001c0004t0004 a0001c0005t0003 a0001c0007t0007 a0001c0011t0003 a0002c0006t0001 a0002c0008t0003 a0002c0010t0001 a0003c0003t0002 a0003c0003t0003 a0003c0071t0003 a0004c0061t0002 a0005c0012t0003 a0005c0047t0002 a0007c0009t0003 a0007c0009t0005 a0008c0017t0007 a0012c0045t0001 a0012c0054t0003 a0024c0072t0004 a0029c0068t0018 a0031c0080t0017 a0032c0044t0001	a0001c0001t0002g0062 a0001c0001t0003g0035 a0001c0001t0015g0047 others(27): Show a0001c0001t0002g0062 a0001c0001t0003g0035 a0001c0001t0015g0047 a0001c0002t0003g0067 a0001c0002t0003g0151 a0001c0004t0004g0011 a0001c0005t0003g0097 a0001c0007t0007g0133 a0001c0011t0003g0141 a0002c0006t0001g0017 a0002c0008t0003g0027 a0002c0008t0003g0043 a0002c0010t0001g0108 a0003c0003t0002g0037 a0003c0003t0003g0034 a0003c0003t0003g0051 a0003c0003t0003g0060 a0003c0071t0003g0100 a0004c0061t0002g0052 a0005c0012t0003g0162 a0005c0047t0002g0120 a0007c0009t0003g0057 a0007c0009t0005g0046 a0008c0017t0007g0147 a0012c0045t0001g0015 a0012c0054t0003g0031 a0024c0072t0004g0114 a0029c0068t0018g0115 a0031c0080t0017g0078 a0032c0044t0001g0021	30	172	0.1744	39	c.373 others(60): Show c.3734-18779_3734-18741dupTAAACACCTCTATGCAAATAAACT AGAAAATCTAGAAGA	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO5A_chr15_52302283_52533880	52378515	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18962.hp1 NA18978.hp1 others(1): Show HG00639.hp2 NA18962.hp1 NA18978.hp1 NA19007.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0023 a0001c0001 a0012c0023	a0001c0001t0001 a0001c0001t0027 a0012c0023t0001 a0001c0001t0001 a0001c0001t0027 a0012c0023t0001	a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0027g0151 others(1): Show a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0027g0151 a0012c0023t0001g0188	4	34	0.1176	39	c.220 others(58): Show c.2208+1109_2208+1110insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	18/41			chr15	TogoVar
MYO6_chr6_75744239_75924537	75757005	G G	GTGTGTAT others(32): Show GTGTGTATATATGTATACACACATATATAGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02004.hp2 HG01928.hp1 HG02004.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0126 a0003c0009t0127 a0003c0009t0126 a0003c0009t0127	a0003c0009t0126g0353 a0003c0009t0127g0352 a0003c0009t0126g0353 a0003c0009t0127g0352	2	354	0.0056	39	c.-48 others(56): Show c.-48+7623_-48+7661dupGTGTATATATGTATACACACATATATAG TGTGTATATAT	MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr6	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0025 a0025	a0025c0032 a0025c0032	a0025c0032t0029 a0025c0032t0029	a0025c0032t0029g0196 a0025c0032t0029g0196	1	104	0.0096	39	c.256 others(58): Show c.2562+5613_2562+5614insAAATATATATATATATATATATATAT ATATATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYOF_chr10_93301429_93487334	93478832	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01168.hp2 HG01243.hp2 others(7): Show HG00140.hp1 HG01168.hp2 HG01243.hp2 HG02145.hp2 HG03195.hp1 HG03471.hp1 HG04184.hp2 HG06807.hp1 NA18974.hp2 NA19003.hp2	a0001 a0005 a0012 others(1): Show a0001 a0005 a0012 a0022	a0001c0001 a0001c0003 a0005c0020 others(2): Show a0001c0001 a0001c0003 a0005c0020 a0012c0024 a0022c0060	a0001c0001t0001 a0001c0003t0001 a0005c0020t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0005c0020t0001 a0012c0024t0001 a0022c0060t0001	a0001c0001t0001g0030 a0001c0001t0001g0080 a0001c0001t0001g0082 others(7): Show a0001c0001t0001g0030 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0119 a0001c0003t0001g0085 a0001c0003t0001g0086 a0005c0020t0001g0003 a0012c0024t0001g0083 a0012c0024t0001g0084 a0022c0060t0001g0081	10	162	0.0617	39	c.88+ others(54): Show c.88+3274_88+3275insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93478836	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02735.hp1 HG03239.hp2 others(2): Show HG02165.hp2 HG02735.hp1 HG03239.hp2 HG03540.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0013 a0001c0001 a0001c0002 a0002c0013	a0001c0001t0001 a0001c0002t0001 a0002c0013t0001 a0001c0001t0001 a0001c0002t0001 a0002c0013t0001	a0001c0001t0001g0112 a0001c0002t0001g0037 a0001c0002t0001g0103 others(2): Show a0001c0001t0001g0112 a0001c0002t0001g0037 a0001c0002t0001g0103 a0001c0002t0001g0104 a0002c0013t0001g0105	5	79	0.0633	39	c.88+ others(54): Show c.88+3270_88+3271insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar
MYOZ2_chr4_119130832_119192789	119134256	A A	AGATAGAT others(32): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG02280.hp2 HG02615.hp2 others(5): Show HG01123.hp2 HG02280.hp2 HG02615.hp2 HG02895.hp1 HG02897.hp1 HG03579.hp1 HG03669.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0071 a0001c0001t0003g0136 a0001c0001t0003g0170 others(4): Show a0001c0001t0001g0071 a0001c0001t0003g0136 a0001c0001t0003g0170 a0001c0001t0006g0007 a0001c0001t0006g0022 a0001c0002t0001g0276 a0001c0002t0002g0300	8	387	0.0207	39	c.-17 others(50): Show c.-1741_-1740insGATAGATAGATAGATAGATAGATAGATAGATAGA TAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1575		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134260	A A	AGATAGAT others(32): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01516.hp1 HG01975.hp1 others(7): Show HG01074.hp1 HG01516.hp1 HG01975.hp1 HG02004.hp2 HG02922.hp1 HG03486.hp1 HG03927.hp1 HG04204.hp2 NA18981.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0135 a0001c0001t0001g0261 a0001c0001t0003g0013 others(6): Show a0001c0001t0001g0135 a0001c0001t0001g0261 a0001c0001t0003g0013 a0001c0001t0003g0050 a0001c0001t0003g0147 a0001c0001t0003g0150 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0006g0007	10	332	0.0301	39	c.-17 others(50): Show c.-1737_-1736insGATAGATAGATAGATAGATAGATAGATAGATAGA TAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1571		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134264	A A	AGATAGAT others(32): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG01099.hp2 others(11): Show HG00323.hp1 HG00735.hp1 HG01099.hp2 HG01167.hp2 HG01257.hp2 HG01433.hp1 HG02080.hp2 HG02135.hp1 HG02280.hp1 HG02602.hp1 HG03471.hp1 HG03540.hp1 NA18999.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0069 a0001c0001t0001g0221 a0001c0001t0001g0280 others(10): Show a0001c0001t0001g0069 a0001c0001t0001g0221 a0001c0001t0001g0280 a0001c0001t0002g0083 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0151 a0001c0001t0003g0167 a0001c0001t0005g0132 a0001c0001t0005g0133	14	263	0.0532	39	c.-17 others(50): Show c.-1733_-1732insGATAGATAGATAGATAGATAGATAGATAGATAGA TAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1567		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134264	A A	AGATAGAT others(32): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18975.hp1 NA19011.hp1 others(3): Show NA18965.hp2 NA18975.hp1 NA19011.hp1 NA19055.hp2 NA19064.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0009 a0001c0005t0004	a0001c0001t0002g0014 a0001c0001t0004g0214 a0001c0002t0001g0232 others(3): Show a0001c0001t0002g0014 a0001c0001t0004g0214 a0001c0002t0001g0232 a0001c0002t0009g0224 a0001c0002t0009g0231 a0001c0005t0004g0204	6	255	0.0235	39	c.-17 others(50): Show c.-1733_-1732insGATAGATAGATAGATAGATAGATAGATAGATAGA TGGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1567		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134268	A A	AGATAGAT others(32): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01261.hp2 HG03225.hp1 others(2): Show HG00558.hp2 HG01261.hp2 HG03225.hp1 NA19007.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0063 a0001c0001t0002g0014 a0001c0001t0003g0046 others(1): Show a0001c0001t0001g0063 a0001c0001t0002g0014 a0001c0001t0003g0046 a0001c0002t0001g0229	5	295	0.0169	39	c.-17 others(50): Show c.-1729_-1728insGATAGATAGATAGATAGATAGATAGATAGATAGA TAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1563		chr4	TogoVar
MYRFL_chr12_69820227_69964097	69877001	G G	GCTTTCTT others(32): Show GCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0232 a0001c0003t0001g0232	1	281	0.0036	39	c.138 others(56): Show c.138-2027_138-2026insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	2/24			chr12	TogoVar
MYRFL_chr12_69820227_69964097	69877024	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01928.hp2 HG02300.hp1 others(3): Show HG00741.hp1 HG01928.hp2 HG02300.hp1 HG03654.hp2 HG03834.hp2 NA19077.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0002c0005 others(1): Show a0001c0001 a0001c0003 a0002c0005 a0006c0009	a0001c0001t0001 a0001c0003t0001 a0002c0005t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0005t0002 a0006c0009t0001	a0001c0001t0001g0282 a0001c0003t0001g0106 a0001c0003t0001g0268 others(3): Show a0001c0001t0001g0282 a0001c0003t0001g0106 a0001c0003t0001g0268 a0001c0003t0001g0278 a0002c0005t0002g0307 a0006c0009t0001g0225	6	152	0.0395	39	c.138 others(56): Show c.138-2002_138-2001insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRIP_chr3_39804609_40265321	40192309	C C	CATATATA others(32): Show CATATATATATGACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	163	0.0061	39	c.166 others(58): Show c.1665+1856_1665+1857insGACATATATATATATATATATATATA TATATATATATAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYSM1_chr1_58649743_58705062	58651443	T T	TGTGTGTG others(32): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0177 a0001c0001t0004g0177	1	398	0.0025	39	c.85 others(50): Show c.8553_*8554insCACACACACACACACACACACACACACACACACA CACAC	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding		3299		chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0030 a0002c0005t0030	a0002c0005t0030g0212 a0002c0005t0030g0212	1	36	0.0278	39	c.68+ others(54): Show c.68+1882_68+1883insAAAAAAAAAAATATATATATATATATATAT ATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18965.hp1 NA18985.hp1 others(1): Show NA18954.hp2 NA18965.hp1 NA18985.hp1 NA18998.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0015 a0002c0005t0006 a0002c0005t0015	a0002c0005t0006g0211 a0002c0005t0006g0220 a0002c0005t0015g0217 others(1): Show a0002c0005t0006g0211 a0002c0005t0006g0220 a0002c0005t0015g0217 a0002c0005t0015g0218	4	39	0.1026	39	c.68+ others(54): Show c.68+1882_68+1883insAAAAAAAAAAAAATATATATATATATATAT ATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	36	0.0278	39	c.68+ others(54): Show c.68+1882_68+1883insAAAAAAAAAAAAAAATATATATATATATAT ATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(32): Show ATATATATATATATATATATATATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0229 a0001c0001t0019g0229	1	36	0.0278	39	c.68+ others(54): Show c.68+1882_68+1883insATAAATAAATAAATAAATATATATATATAT ATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0108 a0002c0002t0005g0108	1	36	0.0278	39	c.68+ others(54): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAATATATATATATAT ATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYT1L_chr2_1784113_2336275	1952910	C C	CCCTTCCT others(32): Show CCCTTCCTCCCTCCCTTCCTCTCTCCCTCCCTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0017 a0001c0025t0017	a0001c0025t0017g0064 a0001c0025t0017g0064	1	93	0.0108	39	c.153 others(56): Show c.153-9577_153-9576insAGGGAAGGAGGGAGGGAGAGAGGAAGGG AGGGAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
MZB1_chr5_139382467_139394913	139393516	C C	CCATGTCT others(32): Show CCATGTCTCTTGGGGAGATGGGCCCCAAGTTCCAATAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	39	c.-36 others(50): Show c.-3699_-3661dupTCCTATTGGAACTTGGGGCCCATCTCCCCAAGAG ACATG	MZB1	ENSG00000170476.16	transcript	ENST00000302125.9	protein_coding		3604		chr5	TogoVar
NAALADL2_chr3_174854334_175815548	174962371	C C	CATATATA others(32): Show CATATATATATATATATATATGTCATAGTCACTATGACAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01169.hp2 HG01884.hp1 others(2): Show HG01074.hp1 HG01169.hp2 HG01884.hp1 HG02109.hp2 NA18906.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0003c0005 a0004c0002 others(1): Show a0001c0001 a0003c0005 a0004c0002 a0007c0012	a0001c0001t0002 a0003c0005t0005 a0004c0002t0023 others(2): Show a0001c0001t0002 a0003c0005t0005 a0004c0002t0023 a0004c0002t0030 a0007c0012t0026	a0001c0001t0002g0012 a0003c0005t0005g0009 a0004c0002t0023g0010 others(2): Show a0001c0001t0002g0012 a0003c0005t0005g0009 a0004c0002t0023g0010 a0004c0002t0030g0055 a0007c0012t0026g0024	5	54	0.0926	39	c.43+ others(58): Show c.43+102941_43+102942insGTCATAGTCACTATGACATATATATA TATATATATATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175337120	T T	TTCTTATG others(32): Show TTCTTATGTAATTGGAATTACATAAGACAATTACATATTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0017 a0002c0003t0002g0017	1	64	0.0156	39	c.109 others(60): Show c.1090+12808_1090+12846dupGGAATTACATAAGACAATTACATA TTGTCTTATGTAATT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NALF1_chr13_107158510_107872496	107208834	T T	TCCTCCTT others(32): Show TCCTCCTTCCCTCCTTCCCTTATTCCTTCTTTCCCTCTTC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0089 a0002c0003t0089	a0002c0003t0089g0120 a0002c0003t0089g0120	1	128	0.0078	39	c.108 others(58): Show c.1087+1711_1087+1749dupGAAGAGGGAAAGAAGGAATAAGGGAA GGAGGGAAGGAGG	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	2/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107254062	A A	AAAAAAAA others(32): Show AAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0110 a0001c0001t0084g0110	1	105	0.0095	39	c.916 others(58): Show c.916-43308_916-43307insATATATATATATATATATATATATAT ATATTTTTTTTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107340475	T T	TTCTTTCT others(32): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00741.hp2 others(1): Show HG00408.hp1 HG00408.hp2 HG00741.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0043 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0043 a0001c0002t0002	a0001c0001t0002g0047 a0001c0001t0004g0033 a0001c0001t0043g0054 others(1): Show a0001c0001t0002g0047 a0001c0001t0004g0033 a0001c0001t0043g0054 a0001c0002t0002g0086	4	93	0.0430	39	c.916 others(60): Show c.916-129721_916-129720insGAGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NAPEPLD_chr7_103094776_103154099	103099593	T T	TGTGTGTG others(32): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03927.hp1 HG03669.hp2 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0038 a0002c0002t0001g0233 a0001c0001t0002g0038 a0002c0002t0001g0233	2	364	0.0055	39	c.38 others(50): Show c.3835_*3836insCACACACACACACACACACACACACACACACACA CACAC	NAPEPLD	ENSG00000161048.12	transcript	ENST00000465647.6	protein_coding		182		chr7	TogoVar
NAT1_chr8_18205109_18228689	18220748	A A	ATAGCTTT others(32): Show ATAGCTTTGAATGAATACCCCACCAGCTTCTACTCACCAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 NA19079.hp2 HG00099.hp2 HG00639.hp1 NA19079.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0115 a0002c0003t0006g0156 a0002c0003t0006g0160 a0002c0003t0006g0115 a0002c0003t0006g0156 a0002c0003t0006g0160	3	480	0.0063	39	c.-6- others(54): Show c.-6-1262_-6-1261insTCACCAGTAGCTTTGAATGAATACCCCACC AGCTTCTAC	NAT1	ENSG00000171428.15	transcript	ENST00000307719.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
NAV1_chr1_201534127_201831969	201642525	T T	TTTTTTTC others(32): Show TTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	56	0.0179	39	c.827 others(56): Show c.827-6106_827-6105insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTT	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201734493	G G	GAGAAGAA others(32): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA20805.hp2 HG03579.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0016 a0001c0014t0001 a0001c0001t0016 a0001c0014t0001	a0001c0001t0016g0081 a0001c0014t0001g0168 a0001c0001t0016g0081 a0001c0014t0001g0168	2	179	0.0112	39	c.208 others(60): Show c.2087+15743_2087+15744insAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAG	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201734499	G G	GAGAAGAA others(32): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0021 a0001c0006t0021	a0001c0006t0021g0200 a0001c0006t0021g0200	1	16	0.0625	39	c.208 others(60): Show c.2087+15777_2087+15778insAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201779598	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0083 a0001c0001t0011g0083	1	13	0.0769	39	c.208 others(56): Show c.2088-800_2088-799insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201802136	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0006	1	127	0.0079	39	c.437 others(58): Show c.4379-1438_4379-1437insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	19/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NCAM2_chr21_20993409_21548329	21265114	A A	AAGTATAT others(32): Show AAGTATATATGTATATATTATATATGTATATATATGTATG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0009 a0002c0003t0008g0009	1	132	0.0076	39	c.56- others(56): Show c.56-15464_56-15463insAGTATATATGTATATATTATATATGTAT ATATATGTATG	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17			chr21	TogoVar
NCAM2_chr21_20993409_21548329	21430394	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0077 a0001c0004t0007g0077	1	96	0.0104	39	c.148 others(58): Show c.1481-1714_1481-1713insATATATATATATATATATATATATAT ATATATATATATA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	11/17			chr21	TogoVar
NCAPG2_chr7_158626169_158709804	158660401	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	231	0.0043	39	c.198 others(58): Show c.1989+1792_1989+1793insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	16/27			chr7	TogoVar
NCKAP1L_chr12_54492752_54553243	54506796	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0272 a0001c0004t0002g0272	1	25	0.0400	39	c.307 others(56): Show c.307-1056_307-1055insAAAAAAAAAAAAAAATATATATATATAT ATATATATATA	NCKAP1L	ENSG00000123338.13	transcript	ENST00000293373.11	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCMAP_chr1_24551087_24614328	24604649	T T	TGTGTGTG others(32): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03139.hp2 HG03471.hp2 HG01243.hp1 HG03139.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0018 a0002c0002t0004g0026 a0002c0002t0004g0058 a0002c0002t0004g0018 a0002c0002t0004g0026 a0002c0002t0004g0058	3	380	0.0079	39	c.168 others(54): Show c.168-957_168-956insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATATAAAAA	NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3			chr1	TogoVar
NCOA2_chr8_70104782_70408808	70314180	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0052 a0003c0006t0006g0052	1	99	0.0101	39	c.-76 others(58): Show c.-76-17381_-76-17380insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	NCOA2	ENSG00000140396.13	transcript	ENST00000452400.7	protein_coding	1/22			chr8	TogoVar

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