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
MACF1_chr1_39199695_39492138	39296811	A A	AAAGGAAG others(27): Show AAAGGAAGGAAGGAAGGAAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	107	0.0093	34	c.235 others(51): Show c.2356-791_2356-790insAAGAAAGAAAGAAAGGAAGGAAGGAAGG AAGGAA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	20/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39307901	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0182 a0002c0003t0002g0182	1	23	0.0435	34	c.279 others(53): Show c.2790-1648_2790-1647insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	23/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACIR_chr5_103253763_103283660	103261658	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0065 a0001c0002t0007g0065	1	341	0.0029	34	c.-11 others(53): Show c.-114+2793_-114+2794insTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261662	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0060 a0001c0002t0006g0060	1	346	0.0029	34	c.-11 others(53): Show c.-114+2797_-114+2798insTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACROD2_chr20_13990516_16058197	14230654	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	10	0.1000	34	c.271 others(55): Show c.271+144927_271+144928insTATATATATATATATATATATATA TATATAAAAA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14600343	T T	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0024 a0002c0002t0003g0024	1	16	0.0625	34	c.302 others(53): Show c.302-84499_302-84498insTATATATATATATATATATATATATA CACACACA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14600343	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	16	0.0625	34	c.302 others(53): Show c.302-84499_302-84498insTATATATATATATATATATATATATA TACACACA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14600343	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	16	0.0625	34	c.302 others(53): Show c.302-84499_302-84498insTATATATATATATATATATATATATA TATATACA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14862510	T T	TATATATA others(27): Show TATATATAAATATATATATATAAATATATATATAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0009 a0001c0001t0011g0009	1	23	0.0435	34	c.418 others(55): Show c.418+177558_418+177559insAATATATATATATAAATATATATA TAAATATATA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15876102	T T	TATAAATA others(27): Show TATAAATATATATATATATTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0009 a0001c0001t0011g0009	1	23	0.0435	34	c.728 others(51): Show c.728-9659_728-9658insAATATATATATATATTATATATATATAT ATAATA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15876109	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0024 a0002c0002t0003g0024	1	4	0.2500	34	c.728 others(51): Show c.728-9652_728-9651insATATATATATATATATATATATATATGT ATGTAT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAD1L1_chr7_1810795_2237945	1980376	A A	AGGACACA others(27): Show AGGACACACCTGGGCGTATCCGCCTCCTCTCTGGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00735.hp2 others(10): Show HG00639.hp1 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01099.hp2 HG01975.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0003 a0001c0004t0001 a0001c0004t0003	a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0094 others(10): Show a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0100 a0001c0004t0001g0205 a0001c0004t0003g0116 a0001c0004t0003g0117 a0001c0004t0003g0118 a0001c0004t0003g0119 a0001c0004t0003g0180	13	262	0.0496	34	c.150 others(49): Show c.1505+43_1505+76dupCCCAGAGAGGAGGCGGATACGCCCAGGTGT GTCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	15/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1297454	C C	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp2 HG03195.hp1 others(2): Show HG02109.hp1 HG02717.hp2 HG03195.hp1 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0007 a0001c0003t0001 a0001c0003t0007	a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0281 others(2): Show a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0281 a0001c0003t0007g0270 a0001c0003t0007g0271	5	233	0.0215	34	c.69+ others(49): Show c.69+7475_69+7476insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1298329	T T	TGCCGTCT others(27): Show TGCCGTCTTCTGGTTATCCACGAAGAGGCACACGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp1 others(97): Show HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG01074.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18981.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19067.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp2 NA19091.hp2 NA20300.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0015 a0004c0012	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0005t0001 a0001c0015t0001 a0004c0012t0001	a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0171 others(97): Show a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0280 a0001c0001t0006g0244 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0012g0180 a0001c0001t0014g0279 a0001c0001t0016g0215 a0001c0002t0001g0165 a0001c0002t0001g0293 a0001c0005t0001g0257 a0001c0005t0001g0258 a0001c0015t0001g0212 a0004c0012t0001g0260	100	362	0.2762	34	c.69+ others(49): Show c.69+8431_69+8464dupTCCACGAAGAGGCACACGCGCCGTCTTCTG GTTA	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1333897	C C	CCGTGTGC others(27): Show CCGTGTGCTCACCCCTGTGCTCACCCCTGTGCCCA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0286 a0001c0001t0004g0286	1	380	0.0026	34	c.765 others(51): Show c.765+1033_765+1034insGTGTGCTCACCCCTGTGCTCACCCCTGT GCCCAC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1334068	G G	GCCCGTGT others(27): Show GCCCGTGTGCCCACCCCTGCACCCACCCCCCATGC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	386	0.0026	34	c.765 others(51): Show c.765+1212_765+1213insCCACCCCTGCACCCACCCCCCATGCCCC GTGTGC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGEA12_chrX_152728757_152742669	152730009	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	211	0.0047	34	c.-40 others(45): Show c.-4032_-4031insATATATATATATATATATATATATATATATATAC	MAGEA12	ENSG00000213401.10	transcript	ENST00000393869.8	protein_coding		3747		chrX	TogoVar
MAGEA3_chrX_152693794_152707347	152707257	G G	GGGGAGTC others(27): Show GGGGAGTCGGGGAGTGAGAGGTGGTGTGATCGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	190	0.0053	34	c.54 others(45): Show c.5480_*5481insGGGAGTCGGGGAGTGAGAGGTGGTGTGATCGCCA	MAGEA3	ENSG00000221867.9	transcript	ENST00000370278.4	protein_coding		4911		chrX	TogoVar
MAGI1_chr3_65348526_66043918	65637556	A A	AAAAAAAA others(27): Show AAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0013 a0002c0002t0010g0013	1	21	0.0476	34	c.314 others(53): Show c.314-15469_314-15468insCTTTCTTTCTTTCTTTCTTTCTTTCT TTTTTTTT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65819875	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02976.hp2 HG01884.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0005 a0001c0001t0013	a0001c0001t0005g0076 a0001c0001t0013g0104 a0001c0001t0005g0076 a0001c0001t0013g0104	2	21	0.0952	34	c.314 others(55): Show c.314-197788_314-197787insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65880908	C C	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03225.hp1 HG02155.hp1 HG03225.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0085 a0005c0006t0001g0100 a0001c0001t0001g0085 a0005c0006t0001g0100	2	58	0.0345	34	c.313 others(55): Show c.313+157087_313+157088insACACACACACACACACACACACAC ACACACACAC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI2_chr7_78012055_79458667	78057997	A A	ATGTGTGT others(27): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA20129.hp1 HG00140.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0020 a0001c0001t0002g0029	2	40	0.0500	34	c.370 others(55): Show c.3706+20949_3706+20950insCACACACACACACACACACACACA CACACACACA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	21/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	78057999	A A	ATGTGTGT others(27): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03225.hp2 NA18522.hp1 HG03209.hp2 HG03225.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0005g0003 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0005g0003	3	20	0.1500	34	c.370 others(55): Show c.3706+20947_3706+20948insCACACACACACACACACACACACA CACACACACA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	21/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	78573365	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0037 a0002c0008t0001g0037	1	7	0.1429	34	c.539 others(53): Show c.539-51754_539-51721dupATATATATATATATATATATATATAT ATATATAT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	3/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	78912715	T T	TTATATAT others(27): Show TTATATATATATATCATTCATATATATATCATTCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18522.hp1 NA18906.hp2 HG02451.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0013 a0001c0002t0001g0008 a0001c0002t0001g0025 a0001c0001t0002g0013 a0001c0002t0001g0008 a0001c0002t0001g0025	3	38	0.0789	34	c.418 others(53): Show c.418+94341_418+94374dupTGAATGATATATATATGAATGATATA TATATATA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	2/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79228354	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	5	0.2000	34	c.302 others(55): Show c.302-221149_302-221148insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79367858	C C	CACACACA others(27): Show CACACACACACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0002 a0001c0003t0004g0002	1	8	0.1250	34	c.301 others(53): Show c.301+85161_301+85162insATATATATATATATATATATGTGTGT GTGTGTGT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79367858	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0037 a0002c0008t0001g0037	1	8	0.1250	34	c.301 others(53): Show c.301+85161_301+85162insATATATATATATATATATATATATAT ATATATAT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI3_chr1_113385515_113690923	113640989	C C	CTATATAT others(27): Show CTATATATGATATATATAATATATATGATATATAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18950.hp2 NA18961.hp2 others(4): Show NA18944.hp1 NA18950.hp2 NA18961.hp2 NA18962.hp1 NA18980.hp2 NA19070.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0076 a0001c0001t0003g0087 others(4): Show a0001c0001t0003g0055 a0001c0001t0003g0076 a0001c0001t0003g0087 a0001c0001t0003g0091 a0001c0001t0003g0109 a0001c0001t0003g0115 a0001c0001t0003g0126	7	234	0.0299	34	c.136 others(51): Show c.1361-889_1361-856dupAATATATATGATATATATAATATATATG ATATAT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAK_chr6_10757723_10843539	10815945	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	254	0.0039	34	c.278 others(51): Show c.278+1904_278+1905insTTTTATATATATATATATATATATATAT ATATAT	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	4/14			chr6	TogoVar
MALRD1_chr10_19043801_19739478	19165242	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG02630.hp1 others(4): Show HG01256.hp1 HG01256.hp2 HG02630.hp1 HG03704.hp1 NA18947.hp2 NA19088.hp1 NA21309.hp1	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0034 a0035 a0054 a0084	a0001c0003 a0002c0005 a0007c0008 others(4): Show a0001c0003 a0002c0005 a0007c0008 a0034c0032 a0035c0053 a0054c0066 a0084c0084	a0001c0003t0001 a0002c0005t0001 a0007c0008t0001 others(4): Show a0001c0003t0001 a0002c0005t0001 a0007c0008t0001 a0034c0032t0001 a0035c0053t0001 a0054c0066t0002 a0084c0084t0003	a0001c0003t0001g0122 a0002c0005t0001g0115 a0007c0008t0001g0131 others(4): Show a0001c0003t0001g0122 a0002c0005t0001g0115 a0007c0008t0001g0131 a0034c0032t0001g0124 a0035c0053t0001g0117 a0054c0066t0002g0089 a0084c0084t0003g0106	7	60	0.1167	34	c.165 others(51): Show c.1657-371_1657-370insATATATATATATATATATATATATATAT ATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	12/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19171654	A A	ATGTCTAT others(27): Show ATGTCTATGTGTGTATATAAATACACACATATATG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02074.hp2 HG04228.hp2 others(2): Show HG01074.hp2 HG02074.hp2 HG04228.hp2 NA19086.hp1 NA20752.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0039	a0001c0013 a0002c0004 a0005c0010 others(1): Show a0001c0013 a0002c0004 a0005c0010 a0039c0054	a0001c0013t0001 a0002c0004t0001 a0005c0010t0001 others(1): Show a0001c0013t0001 a0002c0004t0001 a0005c0010t0001 a0039c0054t0001	a0001c0013t0001g0039 a0002c0004t0001g0005 a0002c0004t0001g0009 others(2): Show a0001c0013t0001g0039 a0002c0004t0001g0005 a0002c0004t0001g0009 a0005c0010t0001g0027 a0039c0054t0001g0036	5	143	0.0350	34	c.183 others(53): Show c.1831-3550_1831-3517dupCTATGTGTGTATATAAATACACACAT ATATGTGT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	13/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19175463	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0011 a0011	a0011c0007 a0011c0007	a0011c0007t0001 a0011c0007t0001	a0011c0007t0001g0059 a0011c0007t0001g0059	1	120	0.0083	34	c.195 others(51): Show c.1951+155_1951+156insATATATATATATATATATATATATATAT ATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	14/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19316059	T T	TAAACTCC others(27): Show TAAACTCCTTAGTAAATTTACGTAATTTACTAAGG	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18988.hp1 NA19088.hp1 HG02132.hp2 NA18988.hp1 NA19088.hp1	a0002 a0042 a0002 a0042	a0002c0005 a0042c0097 a0002c0005 a0042c0097	a0002c0005t0001 a0042c0097t0001 a0002c0005t0001 a0042c0097t0001	a0002c0005t0001g0114 a0002c0005t0001g0115 a0042c0097t0001g0007 a0002c0005t0001g0114 a0002c0005t0001g0115 a0042c0097t0001g0007	3	150	0.0200	34	c.342 others(53): Show c.3420-7870_3420-7837dupCGTAATTTACTAAGGAAACTCCTTAG TAAATTTA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19316079	C C	CGTAATTT others(27): Show CGTAATTTACTAAGGAAACTCCTTAGTAAATTTAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0040 a0040	a0040c0042 a0040c0042	a0040c0042t0001 a0040c0042t0001	a0040c0042t0001g0023 a0040c0042t0001g0023	1	150	0.0067	34	c.342 others(53): Show c.3420-7836_3420-7803dupAGTAATTTACTAAGGAAACTCCTTAG TAAATTTA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19692886	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0021 a0021	a0021c0014 a0021c0014	a0021c0014t0001 a0021c0014t0001	a0021c0014t0001g0096 a0021c0014t0001g0096	1	40	0.0250	34	c.631 others(51): Show c.6314+333_6314+334insTATATATATATATATATATATATATATA TATAAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATAGAGA others(27): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	17	0.0588	34	c.191 others(53): Show c.1911+2785_1911+2786insTAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(27): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	17	0.0588	34	c.191 others(53): Show c.1911+2785_1911+2786insTATATATAGAGAGAGAGAGAGAGAGA GAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(27): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02129.hp1 HG01106.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0241 a0001c0001t0001g0036 a0001c0001t0001g0241	2	18	0.1111	34	c.191 others(53): Show c.1911+2785_1911+2786insTATATATATAGAGAGAGAGAGAGAGA GAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(27): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02165.hp1 NA18906.hp2 others(1): Show HG02155.hp1 HG02165.hp1 NA18906.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0203 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0203 a0001c0001t0001g0311	4	20	0.2000	34	c.191 others(53): Show c.1911+2785_1911+2786insTATATATATATAGAGAGAGAGAGAGA GAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(27): Show TATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02293.hp1 NA20805.hp1 HG01261.hp1 HG02293.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0218 a0001c0001t0001g0264 a0001c0001t0001g0205 a0001c0001t0001g0218 a0001c0001t0001g0264	3	19	0.1579	34	c.191 others(53): Show c.1911+2785_1911+2786insTATATATATATATATAGAGAGAGAGA GAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(27): Show TATATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02809.hp2 HG02300.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0267 a0001c0001t0004g0020 a0001c0001t0001g0267 a0001c0001t0004g0020	2	18	0.1111	34	c.191 others(53): Show c.1911+2785_1911+2786insTATATATATATATATATATAGAGAGA GAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(27): Show TATATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18522.hp1 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0270 a0001c0001t0001g0179 a0001c0001t0001g0270	2	18	0.1111	34	c.191 others(53): Show c.1911+2785_1911+2786insTATATATATATATATATATATAGAGA GAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(27): Show TATATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0021	1	17	0.0588	34	c.191 others(53): Show c.1911+2785_1911+2786insTATATATATATATATATATATATAGA GAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0002 a0002c0025t0002	a0002c0025t0002g0112 a0002c0025t0002g0112	1	17	0.0588	34	c.191 others(53): Show c.1911+2785_1911+2786insTATATATATATATATATATATATATA TAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0115 a0002c0002t0002g0115	1	17	0.0588	34	c.191 others(53): Show c.1911+2785_1911+2786insTATATATATATATATATATATATATA TATATAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAML2_chr11_95971598_96348195	96121780	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA19062.hp1 NA19062.hp2 HG01934.hp2 NA19062.hp1 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0013 a0001c0002t0042 a0001c0002t0003 a0001c0002t0013 a0001c0002t0042	a0001c0002t0003g0199 a0001c0002t0013g0035 a0001c0002t0042g0120 a0001c0002t0003g0199 a0001c0002t0013g0035 a0001c0002t0042g0120	3	38	0.0789	34	c.514 others(53): Show c.514-28264_514-28263insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAMLD1_chrX_150358317_150519173	150403956	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	224	0.0045	34	c.-64 others(53): Show c.-64+40428_-64+40461dupAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAN1A2_chr1_117362449_117533872	117458488	T T	TATATATC others(27): Show TATATATCTATATATATATAGATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0019 a0001c0001t0011g0019	1	368	0.0027	34	c.951 others(51): Show c.951-1995_951-1994insCTATATATATATAGATATATATATATAG ATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1C1_chr1_25611791_25789450	25644497	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0230 a0001c0002t0001g0230	1	236	0.0042	34	c.540 others(53): Show c.540+26182_540+26183insATATATATATATATATATATATATAT ATATATAT	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar

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