Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(163): Show CCACTTACTTACCTACTACATACCCGGGCCACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	296	0.0034	170	c.368 others(187): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTA GGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGT GTAGTAGGTAAGTGGCCCGGGTATGTAGTAGGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(163): Show CCACTTACTTACCTACTACATACCCGGGCCACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01993.hp2 HG02004.hp2 others(1): Show HG01099.hp2 HG01993.hp2 HG02004.hp2 HG02074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0180 a0002c0002t0001g0035 a0002c0002t0001g0045 others(1): Show a0001c0001t0001g0180 a0002c0002t0001g0035 a0002c0002t0001g0045 a0002c0002t0001g0079	4	296	0.0135	170	c.368 others(187): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTA GGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGT GTAGTAGGTAAGTGGCCCGGGTATGTAGTAGGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(163): Show CCACTTACTTACCTACTACATACCCGGGCCACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18990.hp1 NA18988.hp1 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0189 a0002c0002t0001g0048 a0001c0001t0001g0189 a0002c0002t0001g0048	2	296	0.0068	170	c.368 others(187): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGT GTAGTAGGTAAGTGGCCCGGGTATGTAGTAGGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC24_chr8_144517388_144532033	144531174	T T	TGAAGGGC others(163): Show TGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	170	c.-42 others(181): Show c.-4275_-4274insTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4142		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(163): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	398	0.0025	170	c.-42 others(181): Show c.-4292_-4291insGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531427	G G	GGAGCAGC others(163): Show GGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG02083.hp1 HG02129.hp1 others(4): Show HG00423.hp2 HG02083.hp1 HG02129.hp1 NA18969.hp2 NA19000.hp2 NA19075.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	7	398	0.0176	170	c.-45 others(181): Show c.-4528_-4527insGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4395		chr8	TogoVar
LSP1_chr11_1848084_1897263	1873969	G G	GGAGGAGG others(163): Show GGAGGAGGGAGGCCGGCGGAGGAGGGAGGCTGGCAGAGCAGGGAGCCCGG CAGAGGAGGGAGGCCGGCGGAGGAGGGAGGCCGGCAGAGGAGGGAGGCCG GCGGAGCAGGGAGCCCGGCGGAGGAGGGAGGCCGGCGGAGGAGGGAGGCT GGCAGAGCAGGGAGCCCGGCA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0248 a0002c0001t0001g0248	1	360	0.0028	170	c.54- others(185): Show c.54-6074_54-6073insCCCGGCAGAGGAGGGAGGCCGGCGGAGGAG GGAGGCCGGCAGAGGAGGGAGGCCGGCGGAGCAGGGAGCCCGGCGGAGGA GGGAGGCCGGCGGAGGAGGGAGGCTGGCAGAGCAGGGAGCCCGGCAGAGG AGGGAGGCCGGCGGAGGAGGGAGGCTGGCAGAGCAGGGAG	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
LSP1_chr11_1848084_1897263	1873999	T T	TGGCAGAG others(163): Show TGGCAGAGCAGGGAGCCCGGCAGAGGAGGGAGGCCGGCGGAGGAGGGAGG CCGGCAGAGCAGGGAGCCCGGCAGAGGAGGGAGGCCGGCAGAGGAGGGAG GCTGGCGGAGCAGGGAGCCCGGCAGAGGAGGGAGGCCGGCGGAGGAGGGA GGCTGGCAGAGCAGGGAGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG00673.hp1 others(25): Show HG00323.hp1 HG00621.hp1 HG00673.hp1 HG00735.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01256.hp2 HG01361.hp1 HG02132.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG03669.hp2 HG03831.hp2 HG03834.hp2 HG04204.hp1 NA18943.hp1 NA18952.hp2 NA18970.hp2 NA18973.hp1 NA18979.hp1 NA18998.hp1 NA19083.hp1 NA19091.hp2 NA20905.hp2 NA21309.hp1	a0002 a0002	a0002c0001 a0002c0005 a0002c0007 others(1): Show a0002c0001 a0002c0005 a0002c0007 a0002c0013	a0002c0001t0001 a0002c0001t0005 a0002c0005t0001 others(2): Show a0002c0001t0001 a0002c0001t0005 a0002c0005t0001 a0002c0007t0001 a0002c0013t0001	a0002c0001t0001g0201 a0002c0001t0001g0202 a0002c0001t0001g0235 others(25): Show a0002c0001t0001g0201 a0002c0001t0001g0202 a0002c0001t0001g0235 a0002c0001t0001g0262 a0002c0001t0001g0263 a0002c0001t0001g0267 a0002c0001t0001g0268 a0002c0001t0001g0269 a0002c0001t0001g0271 a0002c0001t0001g0272 a0002c0001t0001g0273 a0002c0001t0001g0274 a0002c0001t0001g0275 a0002c0001t0001g0276 a0002c0001t0001g0277 a0002c0001t0001g0278 a0002c0001t0001g0284 a0002c0001t0005g0266 a0002c0005t0001g0090 a0002c0005t0001g0091 a0002c0005t0001g0092 a0002c0005t0001g0093 a0002c0005t0001g0134 a0002c0005t0001g0147 a0002c0005t0001g0158 a0002c0007t0001g0260 a0002c0007t0001g0261 a0002c0013t0001g0068	28	360	0.0778	170	c.54- others(185): Show c.54-6074_54-6073insCCCGGCAGAGGAGGGAGGCCGGCGGAGGAG GGAGGCCGGCAGAGCAGGGAGCCCGGCAGAGGAGGGAGGCCGGCAGAGGA GGGAGGCTGGCGGAGCAGGGAGCCCGGCAGAGGAGGGAGGCCGGCGGAGG AGGGAGGCTGGCAGAGCAGGGAGGCCGGCAGAGCAGGGAG	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
LTBP2_chr14_74493183_74617237	74564089	A A	ATATATAT others(163): Show ATATATATATATATATATTTATATATATATTTATATATATATTTATATAT ATTTATATATATTTATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATTTAT ATATATATTTATATATATATT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0007 a0002c0015t0007	a0002c0015t0007g0118 a0002c0015t0007g0118	1	282	0.0036	170	c.831 others(187): Show c.831-8397_831-8396insAATATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATAAATATATATA AATATATATATAAATATATATATAAATATATATATATATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LY75_chr2_159798355_159909756	159874071	A A	AAAATACA others(163): Show AAAATACATATAAACGTATATATTTTGTAAAAATACATATAAACGTATAT ATTTTGTAAAAATACATATAAACGTATATATTTTGTAAAAATACATATAA ACGTATATATTTTGTAAAAATACATATAAACGTATATATTTTGTAAAAAT ATATAAACGTATATATTTTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00738.hp1 others(3): Show HG00140.hp1 HG00323.hp1 HG00738.hp1 HG02922.hp2 HG03239.hp2 HG03471.hp2	a0011 a0013 a0014 a0011 a0013 a0014	a0011c0066 a0013c0018 a0014c0022 a0011c0066 a0013c0018 a0014c0022	a0011c0066t0004 a0013c0018t0001 a0013c0018t0004 others(2): Show a0011c0066t0004 a0013c0018t0001 a0013c0018t0004 a0014c0022t0001 a0014c0022t0003	a0011c0066t0004g0115 a0013c0018t0001g0217 a0013c0018t0004g0221 others(3): Show a0011c0066t0004g0115 a0013c0018t0001g0217 a0013c0018t0004g0221 a0014c0022t0001g0104 a0014c0022t0001g0105 a0014c0022t0003g0317	6	330	0.0182	170	c.197 others(189): Show c.1974+1372_1974+1373insACAAAATATATACGTTTATATATTTT TACAAAATATATACGTTTATATGTATTTTTACAAAATATATACGTTTATA TGTATTTTTACAAAATATATACGTTTATATGTATTTTTACAAAATATATA CGTTTATATGTATTTTTACAAAATATATACGTTTATATGTATTT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MACROD2_chr20_13990516_16058197	14862352	T T	TATATATA others(163): Show TATATATATAAATATATATAAATATATATATAAATATATATAAATAAATA TATATAAATATATATATAAATATATATAAATATATATATAAATATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATATAAATATATATATAA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	24	0.0417	170	c.418 others(191): Show c.418+177438_418+177439insAATATATATAAATATATATATAAA TATATATAAATATATATATAAATATATATATAAATATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAEA_chr4_1284891_1345137	1298329	T T	TGCCGTCT others(163): Show TGCCGTCTTCTGGTTATCCACGAAGAGGCACACGCGCCGTCTTCTGGTTA TCCACGAAGAGGCACACGCGCCGTCTTCTGGTTATCCACGAAGAGGCACA CGCGCCGTCTTCTGGTTATCCACGAAGAGGCACACGCGCCGTCTTCTGGT TATCCACGAAGAGGCACACGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0290 a0001c0003t0001g0290	1	388	0.0026	170	c.69+ others(185): Show c.69+8464_69+8465insTCCACGAAGAGGCACACGCGCCGTCTTCTG GTTATCCACGAAGAGGCACACGCGCCGTCTTCTGGTTATCCACGAAGAGG CACACGCGCCGTCTTCTGGTTATCCACGAAGAGGCACACGCGCCGTCTTC TGGTTATCCACGAAGAGGCACACGCGCCGTCTTCTGGTTA	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGEF1_chr3_184705364_184717064	184712993	C C	CTTCCTTC others(163): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	456	0.0022	170	c.-11 others(181): Show c.-1173_-1172insAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAA AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		930		chr3	TogoVar
MAGI3_chr1_113385515_113690923	113416187	A A	ATTATGTG others(163): Show ATTATGTGTAATTAATGACACATATTAATTATGTAATTAATGACACATAT TAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATAT TAATTATGTAATTAATGACACATATTATTATGTAATTAATGACACATATT ATTATGTAATTAATGACACAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0234 a0001c0001t0004g0234	1	236	0.0042	170	c.316 others(189): Show c.316+24838_316+24839insTTATGTGTAATTAATGACACATATTA ATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATATTA ATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATATTA TTATGTAATTAATGACACATATTATTATGTAATTAATGACACAT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20			chr1	TogoVar
MALRD1_chr10_19043801_19739478	19315545	A A	ACTATAAT others(163): Show ACTATAATTTATATAAATATATAACTATAATTTATATAAATATATAACTA TAATTTATATAAATATATAAAAATATAAATATAATTTATATAAATATATA AATATATATATATAAATATTTATATATATTTATATATAAATATTTATATA TATTTATATAAATATATAAAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0077 a0077	a0077c0086 a0077c0086	a0077c0086t0002 a0077c0086t0002	a0077c0086t0002g0074 a0077c0086t0002g0074	1	152	0.0066	170	c.342 others(189): Show c.3420-8404_3420-8403insCTATAATTTATATAAATATATAACTA TAATTTATATAAATATATAACTATAATTTATATAAATATATAAAAATATA AATATAATTTATATAAATATATAAATATATATATATAAATATTTATATAT ATTTATATATAAATATTTATATATATTTATATAAATATATAAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39			chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315545	A A	ACTATAAT others(163): Show ACTATAATTTATATAAATATATAACTATAATTTATATAAATATATAACTA TAATTTATATAAATATATAAAAATATAAATATAATTTATATAAATATATA AATATTTATATATAAATATTTATATATATTTATATATAAATATTTATATA TATTTATATAAATATATAAAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03041.hp2 HG02572.hp1 HG03041.hp2	a0014 a0048 a0014 a0048	a0014c0116 a0048c0117 a0014c0116 a0048c0117	a0014c0116t0002 a0048c0117t0002 a0014c0116t0002 a0048c0117t0002	a0014c0116t0002g0085 a0048c0117t0002g0088 a0014c0116t0002g0085 a0048c0117t0002g0088	2	152	0.0132	170	c.342 others(189): Show c.3420-8404_3420-8403insCTATAATTTATATAAATATATAACTA TAATTTATATAAATATATAACTATAATTTATATAAATATATAAAAATATA AATATAATTTATATAAATATATAAATATTTATATATAAATATTTATATAT ATTTATATATAAATATTTATATATATTTATATAAATATATAAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39			chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579099	G G	GCACCACC others(163): Show GCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACC ACCCTTCACCACCATCACCACCACCACCATCACCACCATCACCATCACCA CTACCACCACCACCACCATCACCACCACCATCACCATCACCACCCTTCAC CACCATCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02895.hp1 HG02897.hp2 others(1): Show HG02717.hp2 HG02895.hp1 HG02897.hp2 NA19043.hp1	a0003 a0032 a0003 a0032	a0003c0015 a0032c0071 a0003c0015 a0032c0071	a0003c0015t0002 a0032c0071t0003 a0003c0015t0002 a0032c0071t0003	a0003c0015t0002g0326 a0003c0015t0002g0327 a0003c0015t0002g0328 others(1): Show a0003c0015t0002g0326 a0003c0015t0002g0327 a0003c0015t0002g0328 a0032c0071t0003g0333	4	362	0.0111	170	c.391 others(185): Show c.391+618_391+619insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCATCACCACCACCACCATCACCACCATCACCATCAC CACTACCACCACCACCACCATCACCACCACCATCACCATCACCACCCTTC ACCACCATCACCACCACCACCATCACCACCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579126	C C	CCACCACC others(163): Show CCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCAC CACCATCACCACCACCATCACCATCATCACCACCACCACCACCATCACCA TCACCAGCACCACCACCATCACCATCACCACCACCACCACCACCATCACC ACCACCACCCTTCACCACCAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0013 a0002c0030t0013	a0002c0030t0013g0136 a0002c0030t0013g0136	1	362	0.0028	170	c.391 others(185): Show c.391+654_391+655insCCCTTCACCACCATCACCACCACCACCATC ACCACCACCATCACCATCATCACCACCACCACCACCATCACCATCACCAG CACCACCACCATCACCATCACCACCACCACCACCACCATCACCACCACCA CCCTTCACCACCATCACCACCACCACCATCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19477886	A A	AGGGGGGA others(163): Show AGGGGGGAGAGGGGGGAGGGGGGAGGGGGAGAGGGGAGAGGGGAGAGGGG GGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGGAG AGGGGGGAGGGGGGAGAGGGGGGAGGGGGGGGAGGGGGGGAGGGGGGAGG GGGGAGGGGGGGGAGGGGCGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	163	0.0061	170	c.525 others(187): Show c.525+8595_525+8596insCCGCCCCTCCCCCCCCTCCCCCCTCCCC CCTCCCCCCCTCCCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCC CCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCCTCT CCCCTCTCCCCTCTCCCCCTCCCCCCTCCCCCCTCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19477886	A A	AGGGGGGA others(163): Show AGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGAGGGGGGAGGGGGGAGG GGGGAGGGGGGAGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGG GAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGG GGGGGGAGAGGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	163	0.0061	170	c.525 others(187): Show c.525+8595_525+8596insCCCCCTCCCCCCTCTCCCCCCCCTCCCC CCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTC CCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCTCCCCCCTCCCCCCTCCCC CCTCCCCCCTCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19478121	G G	GGGAGGGG others(163): Show GGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGA GAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGG GGGGAGGGGGGGAGGGGGGAGAGAGGGGGAGAGAGGGGGAGAGAGGGGGG AGAGAGGGGGAGAGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0013 a0013	a0013c0009 a0013c0009	a0013c0009t0020 a0013c0009t0020	a0013c0009t0020g0163 a0013c0009t0020g0163	1	163	0.0061	170	c.525 others(187): Show c.525+8360_525+8361insTCCCCCTCTCTCCCCCTCTCTCCCCCCT CTCTCCCCCTCTCTCCCCCTCTCTCCCCCCTCCCCCCCTCCCCCCTCCCC CCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCC TCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MBNL1_chr3_152263929_152470780	152286460	A A	ATATATTT others(163): Show ATATATTTTATTTATAATATAAATATTTATATTTTATTTATAATATAAAT ATATTTTATTTATAATATAAATATTTATATTTTATTTATAATATAAATAT ATTTTATTTATAATATAAATATTTATATTTTATTTATAATATAAATATAT TTTATTTATAATATAAATATT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	338	0.0030	170	c.-78 others(191): Show c.-789-12920_-789-12919insTTATATTTTATTTATAATATAAAT ATATTTTATTTATAATATAAATATTTATATTTTATTTATAATATAAATAT ATTTTATTTATAATATAAATATTTATATTTTATTTATAATATAAATATAT TTTATTTATAATATAAATATTTATATTTTATTTATAATATAAATAT	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(163): Show TATTCATATATATATTCATATATATTCATATATATTCATATATATTCATA TATATATTCATATATATTCATATATATATTCATATATATATTCATATATA TTCATATATATTCATATATATATTCATATATATATATTCATATATATATT CATATATACATATATATATTC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0123 a0001c0001t0033g0123	1	191	0.0052	170	c.343 others(187): Show c.343-4412_343-4411insGAATATATATATGTATATATGAATATAT ATATGAATATATATATATGAATATATATATGAATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATGAATATATATATGAAT ATATATGAATATATATGAATATATATGAATATATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBTPS1_chr16_84048763_84121942	84051256	G G	GGGTAAGG others(163): Show GGGTAAGGAGAGCTACAAGGCCCGCATGTGCTTAAGGAGAGCTGCAAGGC CGCATATGGGTAAGGAGAGCTACAAGGCCGCATGTGGGTAAGGAGAGCTA CAAGGCCCGCATGTGCTTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGG AGAGCTACAAGGCCGCATGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0363 a0001c0003t0003g0363	1	424	0.0024	170	c.31 others(181): Show c.3192_*3193insTACATGCGGCCTTGTAGCTCTCCTTACCCACATG CGGCCTTGCAGCTCTCCTTAAGCACATGCGGGCCTTGTAGCTCTCCTTAC CCACATGCGGCCTTGTAGCTCTCCTTACCCATATGCGGCCTTGCAGCTCT CCTTAAGCACATGCGGGCCTTGTAGCTCTCCTTACC	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2506		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84052132	C C	CATGTGGG others(163): Show CATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCGGCA AGGCCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTGCGTAAGGA GAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCCATGTGGG TAAGGAGAGCTGCAAGGCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0258 a0001c0001t0011g0258	1	424	0.0024	170	c.23 others(181): Show c.2316_*2317insACGGCCTTGCAGCTCTCCTTACCCACATGGGGCC TTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACGCACAT GCGGGCCTTGTAGCTCTCCTTACCCACATGCGGGCCTTGCCGCTCTCCTT ACCCACATGCGGCCTTGCAGCTCTCCTTACCCACAT	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		1630		chr16	TogoVar
MEGF11_chr15_65890299_66258750	66039746	T T	TCTGAGCC others(163): Show TCTGAGCCGGGTCAGGCGGCGGTGGGGTGACGGTCCTGAGCCGGGTCAGG CGGCGGTGGGGTGACGGTCCTGAGCCGGGTCAGGCGGCGGTGGGGTGACG GTCCTGAGCCGGGTCAGGCGGCGGTGGGGTGACGGTCCTGAGCCGGGTCA GGCGGCGGTGGGGTGACGGTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG02615.hp1 HG02809.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0006 a0001c0001t0006 a0002c0002t0006	a0001c0001t0006g0046 a0002c0002t0006g0091 a0001c0001t0006g0046 a0002c0002t0006g0091	2	176	0.0114	170	c.394 others(189): Show c.394+54486_394+54655dupGACCGTCACCCCACCGCCGCCTGACC CGGCTCAGGACCGTCACCCCACCGCCGCCTGACCCGGCTCAGGACCGTCA CCCCACCGCCGCCTGACCCGGCTCAGGACCGTCACCCCACCGCCGCCTGA CCCGGCTCAGGACCGTCACCCCACCGCCGCCTGACCCGGCTCAG	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	5/25			chr15	TogoVar
MEGF6_chr1_3482951_3616508	3587976	C C	CCAGGAGG others(163): Show CCAGGAGGGGGCAGGAGGGGAAAGGAGGGGACAGGAGTGGCCAGGAGTGG CCAGGAGGGGGCAGGAGTGGCCAGGAGGGGGCAGAAGGGGGCAGGACAGG CCAGGAGGAGGCAGGAGGGGGCAGGAGGGGACAGGAGGGGGCAGGAGGGG GCAGGACAGGCCAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0052 a0052	a0052c0096 a0052c0096	a0052c0096t0007 a0052c0096t0007	a0052c0096t0007g0229 a0052c0096t0007g0229	1	292	0.0034	170	c.376 others(187): Show c.376+7361_376+7362insCCTCCTCCTGGCCTGTCCTGCCCCCTCC TGCCCCCTCCTGTCCCCTCCTGCCCCCTCCTGCCTCCTCCTGGCCTGTCC TGCCCCCTTCTGCCCCCTCCTGGCCACTCCTGCCCCCTCCTGGCCACTCC TGGCCACTCCTGTCCCCTCCTTTCCCCTCCTGCCCCCTCCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3588176	G G	GCAGGACA others(163): Show GCAGGACAGGCCAGGAGGAGGCAGGAGGGGGCAGGAGGGGACAGGAGGGG GCAGGAGGGGACAGGAGGGGGCAGGAGGGGACAGGAGGGGGCAGGAGTGG CCAGGAGGGGGCAGGACAGGGCAGGAGGGGACAGGAGTGGCCAGGAGTGG CCAGGAGGGGGCAGGAGTGGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG02004.hp1 others(14): Show HG00558.hp2 HG00609.hp2 HG02004.hp1 HG02015.hp2 HG02976.hp1 NA18959.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18980.hp2 NA19000.hp2 NA19003.hp2 NA19066.hp2 NA19070.hp1 NA19088.hp2 NA19090.hp2	a0001 a0003 a0006 others(10): Show a0001 a0003 a0006 a0007 a0008 a0010 a0011 a0012 a0020 a0026 a0028 a0030 a0091	a0001c0001 a0003c0003 a0006c0006 others(10): Show a0001c0001 a0003c0003 a0006c0006 a0007c0008 a0008c0021 a0010c0103 a0011c0011 a0012c0010 a0020c0041 a0026c0101 a0028c0039 a0030c0043 a0091c0071	a0001c0001t0001 a0001c0001t0007 a0003c0003t0001 others(12): Show a0001c0001t0001 a0001c0001t0007 a0003c0003t0001 a0003c0003t0009 a0006c0006t0016 a0007c0008t0001 a0008c0021t0001 a0010c0103t0003 a0011c0011t0064 a0012c0010t0001 a0020c0041t0002 a0026c0101t0003 a0028c0039t0008 a0030c0043t0003 a0091c0071t0039	a0001c0001t0001g0043 a0001c0001t0001g0223 a0001c0001t0001g0228 others(14): Show a0001c0001t0001g0043 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0007g0227 a0003c0003t0001g0144 a0003c0003t0009g0109 a0006c0006t0016g0224 a0007c0008t0001g0226 a0008c0021t0001g0174 a0010c0103t0003g0222 a0011c0011t0064g0292 a0012c0010t0001g0225 a0020c0041t0002g0083 a0026c0101t0003g0221 a0028c0039t0008g0051 a0030c0043t0003g0069 a0091c0071t0039g0061	17	292	0.0582	170	c.376 others(187): Show c.376+7161_376+7162insGCCACTCCTGCCCCCTCCTGGCCACTCC TGGCCACTCCTGTCCCCTCCTGCCCTGTCCTGCCCCCTCCTGGCCACTCC TGCCCCCTCCTGTCCCCTCCTGCCCCCTCCTGTCCCCTCCTGCCCCCTCC TGTCCCCTCCTGCCCCCTCCTGCCTCCTCCTGGCCTGTCCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(163): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	288	0.0035	170	c.483 others(185): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(163): Show ACCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACCCCCCGC CCCACACACACACACACCCCCGCCCCACACACACACCCCCCGCCCCACAC ACACACACACCCCCGCCCCACACACACACACCCCCCGCCCCACACACACA CCCCCCGCCCCACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0198 a0001c0003t0004g0198	1	399	0.0025	170	c.557 others(187): Show c.557-2656_557-2655insCGCCCCACACACACACCCCCCGCCCCAC ACACACACACACCCCCGCCCCACACACACACCCCCCGCCCCACACACACA CACACCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACCCCC CGCCCCACACACACACCCCCCGCCCCACACACACACACCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT4C_chr12_85950667_86261391	86110297	T T	TATATATA others(163): Show TATATATATAGTCTATATATATATAGTCTATATATATATAGTCTATATAT ATAGACTATATATATAGTCTATATATATATAGTCTATATATATATAGTCT ATATATATATAGTCTATATATATATAGTCTATATATATAGTCTATATATA TATAGTCTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0153 a0001c0001t0007g0153	1	186	0.0054	170	c.-56 others(189): Show c.-56-60575_-56-60574insTATATATATATATAGACTATATATAT ATAGACTATATATATAGACTATATATATATAGACTATATATATATAGACT ATATATATATAGACTATATATATATAGACTATATATATAGTCTATATATA TAGACTATATATATATAGACTATATATATATAGACTATATATAT	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MGAT4C_chr12_85950667_86261391	86110297	T T	TATATATA others(163): Show TATATATATAGTCTATATATATATAGTCTATATATATATAGTCTATATAT ATAGTCTATATATATAGTCTATATATATATAGTCTATATATATATAGTCT ATATATATATAGTCTATATATATATAGTCTATATATATAGTCTATATATA TATAGTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp2 HG01099.hp2 others(14): Show HG00733.hp1 HG01074.hp2 HG01099.hp2 HG01978.hp1 HG02129.hp1 HG02293.hp1 HG03239.hp2 NA18747.hp2 NA18950.hp2 NA18959.hp1 NA18961.hp2 NA18980.hp1 NA19009.hp2 NA19010.hp1 NA19060.hp2 NA19083.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0045 a0001c0001t0056 a0001c0001t0081 a0001c0001t0083 a0001c0001t0093 a0001c0001t0102 a0001c0001t0104 a0001c0001t0119	a0001c0001t0001g0162 a0001c0001t0002g0082 a0001c0001t0002g0152 others(14): Show a0001c0001t0001g0162 a0001c0001t0002g0082 a0001c0001t0002g0152 a0001c0001t0007g0041 a0001c0001t0009g0146 a0001c0001t0011g0158 a0001c0001t0015g0077 a0001c0001t0015g0154 a0001c0001t0016g0145 a0001c0001t0045g0160 a0001c0001t0056g0151 a0001c0001t0081g0159 a0001c0001t0083g0180 a0001c0001t0093g0155 a0001c0001t0102g0157 a0001c0001t0104g0156 a0001c0001t0119g0161	17	186	0.0914	170	c.-56 others(189): Show c.-56-60575_-56-60574insTATATATATATATAGACTATATATAT ATAGACTATATATATAGACTATATATATATAGACTATATATATATAGACT ATATATATATAGACTATATATATATAGACTATATATATAGACTATATATA TAGACTATATATATATAGACTATATATATATAGACTATATATAT	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MICALL2_chr7_1429359_1464470	1446278	G G	GGGGGGAG others(163): Show GGGGGGAGGAGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAG AGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGG GAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAG GAGGGGGGAGGAGGGAGAGAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	280	0.0036	170	c.641 others(185): Show c.641+434_641+435insTTCTCTCCCTCCTCCCCCCTCCTCTCCCTC TTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTC CCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCC CTACTGCTCCGCCTCCTCCCCCTTTTTCCCCTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MLPH_chr2_237482251_237560322	237542991	G G	GGGACAGT others(163): Show GGGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGGCATGGTAGTGAGTG GGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGACAGTAGTGAG TGGGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGGGGATGGTGA GTGGGCACGGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp2 HG02970.hp1 others(2): Show HG02723.hp2 HG02896.hp2 HG02970.hp1 HG03139.hp1 HG03486.hp1	a0002 a0003 a0002 a0003	a0002c0008 a0003c0003 a0002c0008 a0003c0003	a0002c0008t0002 a0002c0008t0003 a0003c0003t0002 a0002c0008t0002 a0002c0008t0003 a0003c0003t0002	a0002c0008t0002g0092 a0002c0008t0002g0093 a0002c0008t0003g0024 others(2): Show a0002c0008t0002g0092 a0002c0008t0002g0093 a0002c0008t0003g0024 a0003c0003t0002g0110 a0003c0003t0002g0257	5	286	0.0175	170	c.153 others(187): Show c.1539+334_1539+335insACAGTAATGAGTCGGGGGACAGTGGTGA GTGGGCATGGTAGTGAGTGGGGGGACAGTGGTGAGTGGAGGGACAGTGGT GAGTGGGGACAGTAGTGAGTGGGGGGACAGTGGTGAGTTGGGGGACAGTG GTGAGTGGGGGGATGGTGAGTGGGCACGGTGGTGAGTGGAGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543940	G G	GGGACAGT others(163): Show GGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACGGTGGTGAGTG GAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGA GTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACGGTGGTGA GTGGAGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	286	0.0035	170	c.153 others(189): Show c.1539+1283_1539+1284insACAGTGGTGAGTGGGGGGACAGTGGC AAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGT GGCAAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544974	G G	GGAGGGGA others(163): Show GGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0002 a0004c0014t0002	a0004c0014t0002g0261 a0004c0014t0002g0261	1	286	0.0035	170	c.154 others(189): Show c.1540-1631_1540-1630insAGGGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGACA GTGGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAG TGGTGAGTGGGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2A_chr2_233773330_233838418	233787916	A A	ATATACAT others(163): Show ATATACATATATATTATATATATACATATATATTATATATACATATATAT TATATATACATATATATTATATATACACATATATATTATATATACATATA TATTATATATACACATATATATTATATATACATATATATTATATATACAT ATATTATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0029 a0003c0008t0001g0029	1	378	0.0027	170	c.277 others(187): Show c.277-1577_277-1576insCATATATATTATATATATACATATATAT TATATATACATATATATTATATATACATATATATTATATATACACATATA TATTATATATACATATATATTATATATACACATATATATTATATATACAT ATATATTATATATACATATATTATATATACATATATATTATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPL30_chr2_99176184_99204561	99185223	A A	ATCTGTGG others(163): Show ATCTGTGGAAAAATTGTCTTCCATGAAACTGGTCCAGTGTCAGAAAGGTT GGGGACTGCAGTTTTAAGAGTATTCTTATTAGCTTTGTAGTAATTTAATA ATAATAAAAGCTACTATTTATTGAGGGCTTCCCACATGCCAGGTACTGTT TTAGGTGCTTTGTAGAATAAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0090 a0002c0002t0002g0090	1	390	0.0026	170	c.-27 others(185): Show c.-27-951_-27-782dupTGTGGAAAAATTGTCTTCCATGAAACTGGT CCAGTGTCAGAAAGGTTGGGGACTGCAGTTTTAAGAGTATTCTTATTAGC TTTGTAGTAATTTAATAATAATAAAAGCTACTATTTATTGAGGGCTTCCC ACATGCCAGGTACTGTTTTAGGTGCTTTGTAGAATAACTC	MRPL30	ENSG00000185414.20	transcript	ENST00000338148.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH3_chr5_80649652_80881815	80654609	C C	CCCCCGCC others(163): Show CCCCCGCCCCCGGCGCACGCAGGGTCGCGGCGTGCTCGCGCCCGCAGACG CCTGGAAACTGCGGCCGCGGGCTCGCGCTCCTTGCCGGGCCCTGCCGCCG GGCTGCCATCCTTGCCCTGCCATGTCTCGCCGGAAGCCTGCGTCGGGCGG GCCTCGCTGCCTCCAGCTCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0015 a0011c0012t0015	a0011c0012t0015g0283 a0011c0012t0015g0283	1	362	0.0028	170	c.-11 others(179): Show c.-119_-118insCCCCGCCCCCGGCGCACGCAGGGTCGCGGCGTGCTC GCGCCCGCAGACGCCTGGAAACTGCGGCCGCGGGCTCGCGCTCCTTGCCG GGCCCTGCCGCCGGGCTGCCATCCTTGCCCTGCCATGTCTCGCCGGAAGC CTGCGTCGGGCGGGCCTCGCTGCCTCCAGCTCAG	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding		42		chr5	TogoVar
MSLN_chr16_755734_773862	767581	C C	CGCGTGGA others(163): Show CGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGG GGCGCGTGGGGGGGGCGCATGGGGGGGGCGCATGGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGGCGCATGGAG GAGGGGCGCGTGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	388	0.0026	170	c.159 others(187): Show c.1596+120_1596+121insGGGGAGCGTGGGGGGCGTGGAGGAGGGG CGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGGCGCATGGGGG GGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGG GGGCGCATGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767636	C C	CGTGGAGG others(163): Show CGTGGAGGGGGCCGTGTGGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGGG GGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGA GGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTG GAGGGGGCCGTGTGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0140 a0001c0001t0010g0140	1	388	0.0026	170	c.159 others(187): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGGCGTGGAGGAGG GGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGG GGGTGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGT GGAGGGGGCACGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767711	G G	GGTGTGGA others(163): Show GGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGG GCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGG AGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCG TGGGGGGGTGTGGAGGGGGGC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0059 a0002c0003t0001g0059	1	388	0.0026	170	c.159 others(187): Show c.1596+242_1596+243insTGTGGAGGGGGGCGCGTGGGGGTGTGTG GGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCG CGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGG GGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767824	T T	TGGGGGGG others(163): Show TGGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGC GCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGGG GGGGCGCATGGGGGGGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGG GGGCGTGGAGGGGGGCGCGTG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	388	0.0026	170	c.159 others(187): Show c.1596+362_1596+363insGCGCATGGGGGGGCGTGGAGGGGGGTGC GTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGG GGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGCGCGTGGGG GGGGCGCATGGGGGGGCGTGGAGGGGGGCGCGTGGGGGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MUSK_chr9_110663791_110811558	110755941	T T	TATATACA others(163): Show TATATACATATATATATACATATATATATACATATATATACATATATATA TACATATATATATACATATATATATACATATATATACATATATATATACA TATATATATACATATATATATACATATATATATACATATATATATACATA TATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0093 a0001c0002t0002g0094	2	326	0.0061	170	c.914 others(187): Show c.914-6256_914-6255insCATATATATATACATATATATATACATA TATATACATATATATATACATATATATATACATATATATATACATATATA TACATATATATATACATATATATATACATATATATATACATATATATATA CATATATATATACATATATATATACATATATATATACATATA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYDGF_chr19_4652545_4675342	4663576	C C	CAGCCTCC others(163): Show CAGCCTCCAATCTACCCTCCCCACCCACCCCACCCTCATTCTACAGCCTC CAATCTACCCTCCCCACCCACCCCACCCTCATTCTACAGCCTCCAATCTA CCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTACCCTCCC CACCCACCCCACCCTCATTCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0099 a0002c0002t0002g0099	1	410	0.0024	170	c.287 others(187): Show c.287+1299_287+1300insAGAATGAGGGTGGGGTGGGTGGGGAGGG TAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTG GAGGCTGTAGAATGAGGGTGGGGTGGGTGGGGAGGGTAGATTGGAGGCTG TAGAATGAGGGTGGGGTGGGTGGGGAGGGTAGATTGGAGGCT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYO1G_chr7_44957662_44984015	44961450	C C	CTGAGGGG others(163): Show CTGAGGGGCTGAGGGATTGAGGAGGCTGAGGGCTGAGGGGCTGAGGGAGT TGAGGGGTTGAGGGGGCTGACGGCTGAGGGCTGAGGGGCTGAGGGGCTAA GGAGGCTGAGGGGCTGAGGGGCTGGGGGGCTGGGGGGCTGAGGGGGCTGA GGGGCTGAGGGGCTGAGTGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG03130.hp2 HG03139.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0007 a0001c0003 a0004c0007	a0001c0003t0001 a0004c0007t0001 a0001c0003t0001 a0004c0007t0001	a0001c0003t0001g0045 a0004c0007t0001g0025 a0001c0003t0001g0045 a0004c0007t0001g0025	3	378	0.0079	170	c.12 others(181): Show c.1288_*1289insACCACTCAGCCCCTCAGCCCCTCAGCCCCCTCAG CCCCCCAGCCCCCCAGCCCCTCAGCCCCTCAGCCTCCTTAGCCCCTCAGC CCCTCAGCCCTCAGCCGTCAGCCCCCTCAACCCCTCAACTCCCTCAGCCC CTCAGCCCTCAGCCTCCTCAATCCCTCAGCCCCTCA	MYO1G	ENSG00000136286.16	transcript	ENST00000258787.12	protein_coding		1211		chr7	TogoVar
MYT1L_chr2_1784113_2336275	2295565	C C	CAGAGAGA others(163): Show CAGAGAGAGAGAGACAGACAGACAGAGAGAGAGAGACAGACAGACAGAGA GAGAGAGAGAGAGACAGACAGACAGAGAGAGACAGACAGAGAGAGAGAGA TAGAGAGACAGACAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGA GAGAGAGAGACAGACAGACAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0014 a0001c0003t0017g0014	1	104	0.0096	170	c.-52 others(191): Show c.-520-11063_-520-11062insCTGTCTGTCTGTCTCTCTCTCTCT CTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTCTGTCTGTCTCTCTATCT CTCTCTCTCTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCT CTGTCTGTCTGTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	1/24			chr2	TogoVar
NDUFB2_chr7_140691708_140711643	140706031	T T	TTGTTATG others(163): Show TTGTTATGTTATGTTATGTTGTTATGTTATGTTATGTTTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	306	0.0033	170	c.30 others(185): Show c.30-513_*30-512insGTTATGTTATGTTATGTTTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT	NDUFB2	ENSG00000090266.13	transcript	ENST00000247866.9	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NEDD4L_chr18_58039226_58406539	58209312	C C	CTCCACCT others(163): Show CTCCACCTCCTCCTCCTCATCCTCCATCCCCTCCTCCTCCACTTCTGCCT CCACCTCCTCCTCCTCATCCTGCACTTCCCCCCTCCTCCTCCCCCTCCTC CACCTCCTCCTCCTCATCCTCCACCCGCTCCTCCTCATCCTCCACCTCCA CCTCCTCTTCCACCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	118	0.0085	170	c.123 others(189): Show c.123-36115_123-36114insTCCACCTCCTCCTCCTCATCCTCCAT CCCCTCCTCCTCCACTTCTGCCTCCACCTCCTCCTCCTCATCCTGCACTT CCCCCCTCCTCCTCCCCCTCCTCCACCTCCTCCTCCTCATCCTCCACCCG CTCCTCCTCATCCTCCACCTCCACCTCCTCTTCCACCTCCTCCT	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30			chr18	TogoVar
NEGR1_chr1_71390943_72287539	71928131	C C	CATATGTG others(163): Show CATATGTGTATATATACACACATATGTATATATACACATATGTATATATG TATATATACACACATATGTATATATACACATATGTATATATGTATATATA CACACATATGTGTATATACACATATGTATATATGTATATATACACACATA TGTGTATATACACATATGTAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19240.hp1 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0014 a0001c0001t0011 a0001c0002t0014	a0001c0001t0011g0031 a0001c0002t0014g0057 a0001c0001t0011g0031 a0001c0002t0014g0057	2	64	0.0313	170	c.409 others(187): Show c.409+6947_409+6948insATACATATGTGTATATACACATATGTGT GTATATATACATATATACATATGTGTATATACACATATGTGTGTATATAT ACATATATACATATGTGTATATATACATATGTGTGTATATATACATATAT ACATATGTGTATATATACATATGTGTGTATATATACACATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar