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
MPPED1_chr22_43407014_43512848	43500182	T T	TGGTGATG others(44): Show TGGTGATGGAGGTGGTGGTGATGGCGATGGAGGTGGTAGTGGTGGTGATG AA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03209.hp1 HG03453.hp1 others(1): Show HG02572.hp1 HG03209.hp1 HG03453.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0008 a0001c0003t0010 a0001c0003t0002 a0001c0003t0008 a0001c0003t0010	a0001c0003t0002g0169 a0001c0003t0008g0036 a0001c0003t0008g0195 others(1): Show a0001c0003t0002g0169 a0001c0003t0008g0036 a0001c0003t0008g0195 a0001c0003t0010g0161	4	241	0.0166	51	c.748 others(68): Show c.748+1833_748+1834insGTGATGGAGGTGGTGGTGATGGCGATGG AGGTGGTAGTGGTGGTGATGAAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRGPRG_chr11_3212944_3223813	3216168	T T	TCTGAGCC others(44): Show TCTGAGCCCCCCAGATGGCCTTTAGACCAACAGTGCCCACACTCCCATCC TC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01074.hp1 others(11): Show HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG02559.hp2 HG03209.hp1 HG03486.hp1 HG03516.hp1 HG03942.hp1 NA18956.hp2 NA19003.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	14	302	0.0464	51	c.17 others(62): Show c.1775_*1776insGAGGATGGGAGTGTGGGCACTGTTGGTCTAAAGG CCATCTGGGGGGCTCAG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1775		chr11	TogoVar
MRGPRG_chr11_3212944_3223813	3216225	C C	CCCCCCAG others(44): Show CCCCCCAGATGGCCTTCAGACCAACAGTGCCCACACTCCCATCCTCCTGA GT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG04204.hp1 HG01496.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	317	0.0063	51	c.17 others(62): Show c.1718_*1719insACTCAGGAGGATGGGAGTGTGGGCACTGTTGGTC TGAAGGCCATCTGGGGG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1718		chr11	TogoVar
MRGPRG_chr11_3212944_3223813	3216895	G G	GCTTTCTT others(44): Show GCTTTCTTTCTTTTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	385	0.0026	51	c.10 others(62): Show c.1048_*1049insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGA AGGAAAAAGAAAGAAAG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1048		chr11	TogoVar
MROH1_chr8_144143016_144266926	144218681	C C	CCCTCCCC others(44): Show CCCTCCCCTCTCCTCCTCCCCTCTCCCCCCCTCCCTCTCCCCTCCCCTCT CT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	136	0.0074	51	c.114 others(70): Show c.1142-1908_1142-1907insCTCCTCCCCTCTCCCCCCCTCCCTCT CCCCTCCCCTCTCTCCTCCCCTCTC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH2A_chr2_233773330_233838418	233787914	A A	ATATATAC others(44): Show ATATATACATATATATTATATATACACATATATATTATATATACATATAT AT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0080 a0080	a0080c0060 a0080c0060	a0080c0060t0001 a0080c0060t0001	a0080c0060t0001g0015 a0080c0060t0001g0015	1	339	0.0029	51	c.277 others(68): Show c.277-1577_277-1576insCATATATATTATATATACACATATATAT TATATATACATATATATTATATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH6_chr2_47778145_47811953	47788906	C C	CTTTTTTT others(44): Show CTTTTTTTTTTTTTGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0025 a0002c0003t0001g0025	1	189	0.0053	51	c.261 others(68): Show c.261-2021_261-2020insTTTTTTTTTTTTTGTTTTTGTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT	MSH6	ENSG00000116062.19	transcript	ENST00000234420.11	protein_coding	1/9			chr2	TogoVar
MSLN_chr16_755734_773862	767761	G G	GGGGGCAC others(44): Show GGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGTGTG GA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01192.hp1 HG01256.hp1 others(1): Show HG01069.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0026 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0026 a0002c0002t0002g0313 a0002c0002t0002g0314	4	324	0.0123	51	c.159 others(68): Show c.1596+292_1596+293insGGGCACGTGGAGGGGTCGCGTGGAGGAG GGGCGCGTGGAGGGGGTGTGGAG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767850	A A	AGGGGGGC others(44): Show AGGGGGGCGCGTGGGGGTGCGTGGAGGGGGGCGCGTGGAGGGGGGGCGTG TG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02109.hp2 HG02559.hp2 others(4): Show HG01106.hp2 HG02109.hp2 HG02559.hp2 HG02735.hp1 HG03688.hp1 NA19030.hp1 NA20805.hp2	a0003 a0028 a0003 a0028	a0003c0004 a0028c0026 a0003c0004 a0028c0026	a0003c0004t0003 a0028c0026t0003 a0003c0004t0003 a0028c0026t0003	a0003c0004t0003g0002 a0003c0004t0003g0268 a0003c0004t0003g0269 others(1): Show a0003c0004t0003g0002 a0003c0004t0003g0268 a0003c0004t0003g0269 a0028c0026t0003g0002	7	326	0.0215	51	c.159 others(68): Show c.1596+386_1596+387insCGCGTGGGGGTGCGTGGAGGGGGGCGCG TGGAGGGGGGGCGTGTGGGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767988	G G	GGGGGCAC others(44): Show GGGGGCACATGGGGGTGCGTGGGGGGGCGTGTGGGGGGGGGTGCGTGGAG GA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0323 a0002c0002t0002g0323	1	224	0.0045	51	c.159 others(68): Show c.1597-386_1597-385insACATGGGGGTGCGTGGGGGGGCGTGTGG GGGGGGGTGCGTGGAGGAGGGGC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189612	T T	TTATATAT others(44): Show TTATATATATTTTATATATATAAAATCTTTATATATATTTTATATATATA AA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0056 a0001c0006t0002g0056	1	328	0.0030	51	c.-5+ others(66): Show c.-5+2985_-5+2986insTTTATATATATAAAATATATATAAAGATTT TATATATATAAAATATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0250 a0001c0001t0051g0250	1	177	0.0056	51	c.104 others(70): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAAAAAAAAAAT ATATATATATATATATATATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250696	G G	GGGGAGGG others(44): Show GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGGGGAGGGG GA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02976.hp2 HG03834.hp1 HG02004.hp2 HG02976.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0074	3	174	0.0172	51	c.677 others(66): Show c.677+209_677+210insTCCCCCTCCCCCCCCTCCCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTFR1_chr8_65639734_65715562	65655969	C C	CATATATA others(44): Show CATATATACATATATATATGTATATATATATATGTATATATGTATATATA TA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02895.hp1 HG02896.hp2 others(2): Show HG01243.hp1 HG02895.hp1 HG02896.hp2 HG02976.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0234 a0001c0001t0001g0289 others(2): Show a0001c0001t0001g0189 a0001c0001t0001g0234 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0311	5	174	0.0287	51	c.-81 others(70): Show c.-81+11185_-81+11186insATATATACATATATATATGTATATAT ATATATGTATATATGTATATATATA	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7			chr8	TogoVar
MTFR1_chr8_65639734_65715562	65655969	C C	CATATATA others(44): Show CATATATATATATATATATATGTATATATATATATATGTGTATATATATA TA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	170	0.0059	51	c.-81 others(70): Show c.-81+11185_-81+11186insATATATATATATATATATATGTATAT ATATATATATGTGTATATATATATA	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7			chr8	TogoVar
MTFR1_chr8_65639734_65715562	65655969	C C	CATATATA others(44): Show CATATATATATATATATATATGTATATATATATATGTATATATATATATA TA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	170	0.0059	51	c.-81 others(70): Show c.-81+11185_-81+11186insATATATATATATATATATATGTATAT ATATATATGTATATATATATATATA	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7			chr8	TogoVar
MTFR1_chr8_65639734_65715562	65655969	C C	CATATATA others(44): Show CATATATATATATATATGTATATATATATATATATATGTATATATATATA TA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	170	0.0059	51	c.-81 others(70): Show c.-81+11185_-81+11186insATATATATATATATATGTATATATAT ATATATATATGTATATATATATATA	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7			chr8	TogoVar
MTHFD1L_chr6_150860702_151106887	150994089	G G	GAAAGAAA others(44): Show GAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	202	0.0050	51	c.212 others(72): Show c.2126-15722_2126-15721insAAAGAAAGAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAG	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MTHFS_chr15_79838547_79902014	79839494	C C	CTTTACTT others(44): Show CTTTACTTTTCTTTTCATACTGGAATTTTGTTGTTCTTTTGTTGTTTTTT TT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0207 a0001c0001t0009g0207	1	392	0.0026	51	c.57 others(62): Show c.5715_*5716insAAAAAAAACAACAAAAGAACAACAAAATTCCAGT ATGAAAAGAAAAGTAAA	MTHFS	ENSG00000136371.11	transcript	ENST00000258874.4	protein_coding		4052		chr15	TogoVar
MUC4_chr3_195741771_195816929	195767585	T T	TCACCACC others(44): Show TCACCACCACCACCATCATCACCATCACCATTACCATTGCCACCACCATC AC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0044 a0044	a0044c0147 a0044c0147	a0044c0147t0003 a0044c0147t0003	a0044c0147t0003g0208 a0044c0147t0003g0208	1	247	0.0040	51	c.135 others(70): Show c.13530-835_13530-834insGTGATGGTGGTGGCAATGGTAATGGT GATGGTGATGATGGTGGTGGTGGTG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24			chr3	TogoVar
MXRA5_chrX_3303565_3351652	3315373	A A	ATAAATAG others(44): Show ATAAATAGATAGATGAAATAGGTAGAAGGATGGATAGATGATGGATAGAT AG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0006 a0012c0015t0006	a0012c0015t0006g0157 a0012c0015t0006g0157	1	117	0.0085	51	c.657 others(70): Show c.6578+1729_6578+1730insCTATCTATCCATCATCTATCCATCCT TCTACCTATTTCATCTATCTATTTA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	6/6			chrX	TogoVar
MXRA5_chrX_3303565_3351652	3315373	A A	ATAGATAG others(44): Show ATAGATAGATGAAATAGGTAGAAGGATGGATAGATGATGGATAGATAGAT AG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00597.hp1 others(52): Show HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG01175.hp1 HG01243.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG02071.hp1 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02523.hp2 HG02572.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG03669.hp2 HG03942.hp1 HG04184.hp1 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18953.hp1 NA18957.hp2 NA18960.hp1 NA18966.hp1 NA18971.hp1 NA18980.hp1 NA18987.hp1 NA18987.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp1 NA19009.hp1 NA19054.hp2 NA19060.hp1 NA19062.hp1 NA19067.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA20129.hp1 NA20752.hp1	a0001 a0003 a0007 others(7): Show a0001 a0003 a0007 a0011 a0019 a0020 a0023 a0024 a0028 a0030	a0001c0001 a0001c0037 a0003c0003 others(9): Show a0001c0001 a0001c0037 a0003c0003 a0007c0007 a0011c0012 a0011c0020 a0019c0039 a0020c0036 a0023c0019 a0024c0031 a0028c0038 a0030c0032	a0001c0001t0001 a0001c0037t0001 a0003c0003t0001 others(9): Show a0001c0001t0001 a0001c0037t0001 a0003c0003t0001 a0007c0007t0001 a0011c0012t0001 a0011c0020t0001 a0019c0039t0001 a0020c0036t0001 a0023c0019t0001 a0024c0031t0006 a0028c0038t0005 a0030c0032t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0022 others(49): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0176 a0001c0001t0001g0202 a0001c0001t0001g0245 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0037t0001g0027 a0003c0003t0001g0175 a0003c0003t0001g0177 a0003c0003t0001g0179 a0003c0003t0001g0186 a0003c0003t0001g0204 a0003c0003t0001g0206 a0007c0007t0001g0212 a0011c0012t0001g0115 a0011c0020t0001g0132 a0019c0039t0001g0061 a0020c0036t0001g0167 a0023c0019t0001g0123 a0024c0031t0006g0224 a0028c0038t0005g0019 a0030c0032t0001g0187	55	171	0.3216	51	c.657 others(70): Show c.6578+1729_6578+1730insCTATCTATCTATCCATCATCTATCCA TCCTTCTACCTATTTCATCTATCTA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	6/6			chrX	TogoVar
MXRA8_chr1_1347691_1363555	1361878	T T	TCCAGTCA others(44): Show TCCAGTCACTCTCCTGGGAAAGTCACTTTTATGGAGACAGCCCCCCAAGG GG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	336	0.0030	51	c.-33 others(62): Show c.-3375_-3374insCCCCTTGGGGGGCTGTCTCCATAAAAGTGACTTT CCCAGGAGAGTGACTGG	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		3324		chr1	TogoVar
MYDGF_chr19_4652545_4675342	4663465	C C	CTCCACCC others(44): Show CTCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTGTGCCCTCTC CA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0101 a0002c0002t0002g0101	1	402	0.0025	51	c.287 others(68): Show c.287+1410_287+1411insTGGAGAGGGCACAGATTGGAGGCTGTGT AGAATGAGGATGGGGTGGGTGGA	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYDGF_chr19_4652545_4675342	4663639	C C	CCCCACCC others(44): Show CCCCACCCACCCTGTCCTCATTCTACACAGTCTCCAATCTGTGCTCTCCC CA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	400	0.0025	51	c.287 others(68): Show c.287+1236_287+1237insTGGGGAGAGCACAGATTGGAGACTGTGT AGAATGAGGACAGGGTGGGTGGG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYDGF_chr19_4652545_4675342	4670512	T T	TGCCGAGG others(44): Show TGCCGAGGGGGCGGGGCCGCCGAGGGGGCGGGGCCGCCGAGGGGGCGGGG CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	377	0.0027	51	c.-17 others(60): Show c.-179_-178insGGCCCCGCCCCCTCGGCGGCCCCGCCCCCTCGGCGG CCCCGCCCCCTCGGC	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		171		chr19	TogoVar
MYLK_chr3_123605049_123889332	123607726	T T	TATATATT others(44): Show TATATATTATATATACTATATATAATATTTTATATTATATATACTATATA TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0049 a0006c0009t0049	a0006c0009t0049g0129 a0006c0009t0049g0129	1	147	0.0068	51	c.63 others(62): Show c.6378_*6379insTATATATAGTATATATAATATAAAATATTATATA TAGTATATATAATATAT	MYLK	ENSG00000065534.20	transcript	ENST00000360304.8	protein_coding		2322		chr3	TogoVar
MYO1E_chr15_59127434_59377871	59282897	G G	GGGGGGAG others(44): Show GGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGG GA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0036 a0001c0004t0036	a0001c0004t0036g0020 a0001c0004t0036g0020	1	211	0.0047	51	c.4-1 others(66): Show c.4-10449_4-10448insTCCCCCTCCCCCCTCCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282897	G G	GGGGGGAG others(44): Show GGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGG GA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03041.hp1 HG02818.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0032 a0001c0011t0031 a0001c0002t0032 a0001c0011t0031	a0001c0002t0032g0011 a0001c0011t0031g0012 a0001c0002t0032g0011 a0001c0011t0031g0012	2	212	0.0094	51	c.4-1 others(66): Show c.4-10449_4-10448insTCCCCCTCCCCCCTCCCCCTCCCCCTCCCC CCTCCCCCTCCCCCCTCCCCC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282911	A A	AGGGGGGG others(44): Show AGGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGGGAGGGGGA GG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0033 a0001c0003t0033	a0001c0003t0033g0129 a0001c0003t0033g0129	1	140	0.0071	51	c.4-1 others(66): Show c.4-10463_4-10462insCCTCCCCCTCCCCCCCCTCCCCCTCCCCCC TCCCCCTCCCCCCTCCCCCCC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282928	G G	GGAGGGGG others(44): Show GGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGG GA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0186 a0001c0002t0002g0186	1	161	0.0062	51	c.4-1 others(66): Show c.4-10480_4-10479insTCCCCCCTCCCCCCTCCCCCCTCCCCCCTC CCCCCTCCCCCCTCCCCCCTC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1F_chr19_8515778_8582442	8543681	G G	GTGGTGGT others(44): Show GTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGT GC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0241 a0001c0008t0005g0241	1	337	0.0030	51	c.152 others(68): Show c.1524+615_1524+616insGCACCACCACCACCACCACCAGCACCAC CAGCACCACCAGCACCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO7A_chr11_77123246_77220241	77193031	T T	TTGGTGAC others(44): Show TTGGTGACGGTGGAGGTGGTGTTGGTGTTGTTGATGGTGGAGGTAGGGAT GG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0008 a0008	a0008c0114 a0008c0114	a0008c0114t0001 a0008c0114t0001	a0008c0114t0001g0273 a0008c0114t0001g0273	1	343	0.0029	51	c.415 others(68): Show c.4152+755_4152+756insGTGACGGTGGAGGTGGTGTTGGTGTTGT TGATGGTGGAGGTAGGGATGGTG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYO7A_chr11_77123246_77220241	77193031	T T	TTGGTGAT others(44): Show TTGGTGATGGTGGAGGTGGTGATGGTGTTGTTGATGGTGGAGGTAGTGAT GG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0001 a0010c0022t0001	a0010c0022t0001g0014 a0010c0022t0001g0014	2	344	0.0058	51	c.415 others(68): Show c.4152+755_4152+756insGTGATGGTGGAGGTGGTGATGGTGTTGT TGATGGTGGAGGTAGTGATGGTG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYO7A_chr11_77123246_77220241	77193477	A A	ATGATGGT others(44): Show ATGATGGTGGTGATGGTGGAGGCAGTAATGATGTTGGTGATAGTGTTGGC AG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG04115.hp2 HG01257.hp1 HG04115.hp2	a0004 a0004	a0004c0037 a0004c0037	a0004c0037t0001 a0004c0037t0001	a0004c0037t0001g0010 a0004c0037t0001g0010	2	353	0.0057	51	c.415 others(68): Show c.4153-855_4153-805dupCAGTAATGATGTTGGTGATAGTGTTGGC AGTGATGGTGGTGATGGTGGAGG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYOF_chr10_93301429_93487334	93478832	A A	AAAGAAAG others(44): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp2 HG01256.hp1 others(11): Show HG00639.hp1 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01884.hp2 HG01891.hp2 HG02280.hp2 HG02572.hp2 HG02683.hp2 HG03139.hp2 HG03688.hp2 NA18906.hp2 NA19240.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0010 a0011 a0018	a0001c0001 a0001c0035 a0001c0051 others(7): Show a0001c0001 a0001c0035 a0001c0051 a0001c0057 a0004c0006 a0004c0038 a0005c0020 a0010c0022 a0011c0019 a0018c0027	a0001c0001t0001 a0001c0001t0005 a0001c0035t0001 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0035t0001 a0001c0051t0001 a0001c0057t0001 a0004c0006t0001 a0004c0038t0007 a0005c0020t0001 a0010c0022t0001 a0011c0019t0001 a0018c0027t0001	a0001c0001t0001g0056 a0001c0001t0005g0013 a0001c0035t0001g0054 others(11): Show a0001c0001t0001g0056 a0001c0001t0005g0013 a0001c0035t0001g0054 a0001c0051t0001g0059 a0001c0057t0001g0051 a0004c0006t0001g0011 a0004c0006t0001g0020 a0004c0038t0007g0166 a0005c0020t0001g0052 a0010c0022t0001g0053 a0010c0022t0001g0055 a0011c0019t0001g0057 a0011c0019t0001g0058 a0018c0027t0001g0050	14	166	0.0843	51	c.88+ others(66): Show c.88+3274_88+3275insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93478836	A A	AAAGAAAG others(44): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0093 a0001c0005t0001g0093	1	75	0.0133	51	c.88+ others(66): Show c.88+3270_88+3271insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar
MYOM2_chr8_2040046_2150456	2120675	T T	TATATATT others(44): Show TATATATTATATATATATATAATATATATATAATATATATATATAATATA TA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0013 a0013	a0013c0184 a0013c0184	a0013c0184t0001 a0013c0184t0001	a0013c0184t0001g0055 a0013c0184t0001g0055	1	97	0.0103	51	c.345 others(70): Show c.3454-2577_3454-2576insATATATTATATATATATATAATATAT ATATAATATATATATATAATATATA	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	28/36			chr8	TogoVar
MYRFL_chr12_69820227_69964097	69877024	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02622.hp1 HG02896.hp1 HG00733.hp2 HG02622.hp1 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0301 a0001c0003t0001g0271 a0002c0002t0001g0260 a0001c0001t0001g0301 a0001c0003t0001g0271 a0002c0002t0001g0260	3	149	0.0201	51	c.138 others(68): Show c.138-2002_138-2001insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYT1L_chr2_1784113_2336275	2034659	A A	ACAATCTC others(44): Show ACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCC CC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	100	0.0100	51	c.-15 others(72): Show c.-158+19318_-158+19319insGGGGAGAAGTTAGGAGCTCTCTTC TGCACCCGCATTGGAGGGTGGAGATTG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262932	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATAACCTGTGAGATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0084 a0001c0018t0002g0084	1	51	0.0196	51	c.-42 others(72): Show c.-421+21471_-421+21472insATATATATATATATATCTCACAGG TTATATATATATATATATATATATATA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262932	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATAACCTGTGATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0099 a0001c0005t0002g0099	1	51	0.0196	51	c.-42 others(72): Show c.-421+21471_-421+21472insATATATATATATATCACAGGTTAT ATATATATATATATATATATATATATA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64201900	T T	TGTGTCGG others(44): Show TGTGTCGGGAACCCCCGTGTGTCGGGAACCCCCGCGTGTCGGGAACCTCT GC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0020 a0002c0008t0020	a0002c0008t0020g0132 a0002c0008t0020g0132	1	194	0.0052	51	c.86+ others(66): Show c.86+1994_86+1995insTGTGTCGGGAACCCCCGCGTGTCGGGAACC TCTGCGTGTCGGGAACCCCCG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MZF1_chr19_58556932_58578335	58576414	T T	TCTCTTCC others(44): Show TCTCTTCCTTCCTCCCTCTCTTCCTTCCTCCCTCCCTTCCTCCCTCTCTT CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02622.hp1 HG03209.hp1 HG01069.hp1 HG02622.hp1 HG03209.hp1	a0003 a0020 a0003 a0020	a0003c0017 a0020c0019 a0003c0017 a0020c0019	a0003c0017t0001 a0020c0019t0001 a0003c0017t0001 a0020c0019t0001	a0003c0017t0001g0038 a0020c0019t0001g0082 a0003c0017t0001g0038 a0020c0019t0001g0082	3	411	0.0073	51	c.-34 others(62): Show c.-3401_-3400insGGAAGAGAGGGAGGAAGGGAGGGAGGAAGGAAGA GAGGGAGGAAGGAAGAG	MZF1	ENSG00000099326.9	transcript	ENST00000215057.7	protein_coding		3080		chr19	TogoVar
NACC2_chr9_136001537_136100289	136023044	G G	GGAAGGAG others(44): Show GGAAGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGGAGGGAAGAGGGAGG GA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0036 a0001c0009t0036	a0001c0009t0036g0343 a0001c0009t0036g0343	1	346	0.0029	51	c.887 others(68): Show c.887-6616_887-6615insTCCCTCCCTCTTCCCTCCTTCCCTCCCT CCTCCCTCCCTCTTCCCTCCTTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136032018	C C	CCCTGGGC others(44): Show CCCTGGGCGCCCAGGGTAAATGAATGGGGGGCAAGGGGCGCCCTCGGCAG CA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01167.hp2 HG01169.hp1 others(7): Show HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01884.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02886.hp2 HG03579.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0001c0009 a0001c0026 others(1): Show a0001c0007 a0001c0009 a0001c0026 a0002c0006	a0001c0007t0011 a0001c0007t0042 a0001c0007t0093 others(5): Show a0001c0007t0011 a0001c0007t0042 a0001c0007t0093 a0001c0007t0094 a0001c0007t0096 a0001c0009t0022 a0001c0026t0022 a0002c0006t0006	a0001c0007t0011g0098 a0001c0007t0011g0099 a0001c0007t0042g0034 others(7): Show a0001c0007t0011g0098 a0001c0007t0011g0099 a0001c0007t0042g0034 a0001c0007t0042g0058 a0001c0007t0093g0094 a0001c0007t0094g0038 a0001c0007t0096g0089 a0001c0009t0022g0344 a0001c0026t0022g0096 a0002c0006t0006g0092	10	345	0.0290	51	c.887 others(70): Show c.887-15590_887-15589insTGCTGCCGAGGGCGCCCCTTGCCCCC CATTCATTTACCCTGGGCGCCCAGG	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136032018	C C	CCCTGGGC others(44): Show CCCTGGGCGCCCAGGGTAAATGAATGGGGGGCAAGGGGCGTCCTCTGCAG CA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0073 a0001c0001t0009g0073	1	336	0.0030	51	c.887 others(70): Show c.887-15590_887-15589insTGCTGCAGAGGACGCCCCTTGCCCCC CATTCATTTACCCTGGGCGCCCAGG	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NALF1_chr13_107158510_107872496	107783266	T T	TCGCCCCG others(44): Show TCGCCCCGTCAGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCGGGCCA GC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0074 a0001c0002t0049g0074	1	41	0.0244	51	c.915 others(70): Show c.915+82415_915+82416insGCTGGCCCGGCGGGGGGCTGACCCCC CCCCACCTCCCTCCCTGACGGGGCG	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NANOG_chr12_7784402_7804146	7797178	C C	CTGGTCGA others(44): Show CTGGTCGAGCAAGGATTACAGGCACCCACATTACACCGGCTAATTTTGGT AA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0036 a0001c0001t0055g0036	1	432	0.0023	51	c.20 others(62): Show c.2084_*2085insGGTCGAGCAAGGATTACAGGCACCCACATTACAC CGGCTAATTTTGGTAAT	NANOG	ENSG00000111704.11	transcript	ENST00000229307.9	protein_coding	4/4	2085	INFO_REALIGN_3_PRIME	chr12	TogoVar
NAV1_chr1_201534127_201831969	201734482	G G	GGAAGAGG others(44): Show GGAAGAGGAGGAGGAGGAGGAAGAAGGAGAAGAAGAAGAAGAAGAAGAAG AA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0069 a0001c0001t0076g0069	1	201	0.0050	51	c.208 others(72): Show c.2087+15729_2087+15730insAGAGGAGGAGGAGGAGGAAGAAGG AGAAGAAGAAGAAGAAGAAGAAGAAGA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar

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