Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
MARCHF1_chr4_163519718_164389019	164276934	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0020	1	102	0.0098	22	c.-32 others(45): Show c.-323+106935_-323+106936insTATATATATATATATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164325333	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02280.hp2 HG03490.hp1 others(3): Show HG02080.hp2 HG02280.hp2 HG03490.hp1 NA18969.hp2 NA18984.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0001c0008t0012 a0002c0003t0001	a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0004g0100 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0004g0100 a0001c0002t0003g0001 a0001c0008t0012g0026 a0002c0003t0001g0002	6	102	0.0588	22	c.-32 others(43): Show c.-323+58515_-323+58536dupTATATATATATATATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTATATAC others(15): Show TTATATACATACATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp2 HG03139.hp2 others(1): Show HG02559.hp2 HG02723.hp2 HG03139.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0015 a0001c0002t0027 others(1): Show a0001c0001t0001 a0001c0002t0015 a0001c0002t0027 a0001c0005t0016	a0001c0001t0001g0024 a0001c0002t0015g0050 a0001c0002t0027g0046 others(1): Show a0001c0001t0001g0024 a0001c0002t0015g0050 a0001c0002t0027g0046 a0001c0005t0016g0048	4	102	0.0392	22	c.-32 others(43): Show c.-323+43464_-323+43465insTATATATATATGTATGTATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	102	0.0098	22	c.-32 others(43): Show c.-323+43464_-323+43465insTATATATATATATATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0093 a0001c0001t0023g0093	1	102	0.0098	22	c.-32 others(43): Show c.-323+43464_-323+43465insTATATATATATATATATATAAA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164356780	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAGCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02723.hp2 others(2): Show HG02258.hp1 HG02559.hp2 HG02723.hp2 HG03139.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004	a0001c0001t0007 a0001c0002t0015 a0001c0002t0027 others(2): Show a0001c0001t0007 a0001c0002t0015 a0001c0002t0027 a0001c0005t0016 a0002c0004t0029	a0001c0001t0007g0049 a0001c0002t0015g0050 a0001c0002t0027g0046 others(2): Show a0001c0001t0007g0049 a0001c0002t0015g0050 a0001c0002t0027g0046 a0001c0005t0016g0048 a0002c0004t0029g0047	5	102	0.0490	22	c.-32 others(43): Show c.-323+27089_-323+27090insTGCTTTTTTTTTTTTTTTTTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164356780	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAGCAA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	102	0.0098	22	c.-32 others(43): Show c.-323+27089_-323+27090insTTGCTTTTTTTTTTTTTTTTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164363766	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG04115.hp1 HG03490.hp1 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0001 a0001c0002t0003 a0002c0003t0001	a0001c0002t0003g0004 a0002c0003t0001g0002 a0001c0002t0003g0004 a0002c0003t0001g0002	2	102	0.0196	22	c.-32 others(43): Show c.-323+20103_-323+20104insACACACACACACACACACACAC	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164381993	C C	CATTGGTC others(15): Show CATTGGTCTCTCAACATAGCGTG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0014 a0002c0003t0008g0014	1	102	0.0098	22	c.-32 others(41): Show c.-323+1855_-323+1876dupCACGCTATGTTGAGAGACCAAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF2_chr19_8408305_8444017	8441431	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp2 HG02004.hp1 HG02004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0111 a0002c0002t0003g0069 a0001c0001t0003g0111 a0002c0002t0003g0069	2	392	0.0051	22	c.28 others(33): Show c.2885_*2886insTCTCTCTCTCTCTCTCTCTCTC	MARCHF2	ENSG00000099785.11	transcript	ENST00000215555.7	protein_coding		2415		chr19	TogoVar
MARCHF3_chr5_126862714_127035558	126866880	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01943.hp1 others(1): Show HG00738.hp1 HG01069.hp1 HG01943.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0089 a0001c0001t0015 a0001c0001t0089	a0001c0001t0015g0022 a0001c0001t0015g0023 a0001c0001t0015g0035 others(1): Show a0001c0001t0015g0022 a0001c0001t0015g0023 a0001c0001t0015g0035 a0001c0001t0089g0269	4	296	0.0135	22	c.37 others(33): Show c.3752_*3753insTTTTTTTTTTTTTTTTTTTTTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		833		chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126992766	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0243 a0001c0001t0031g0243	1	296	0.0034	22	c.-57 others(41): Show c.-57+37562_-57+37583dupAAAAAAAAAAAAAAAAAAAAAA	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding	1/4			chr5	TogoVar
MARCHF4_chr2_216252865_216377483	216263499	G G	GAGAGAGA others(15): Show GAGAGAGAGAGAGAAAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03516.hp1 HG02145.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0171 a0001c0001t0004g0172	2	330	0.0061	22	c.866 others(39): Show c.866-3821_866-3820insTTCTCTCTTTCTCTCTCTCTCT	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	3/3			chr2	TogoVar
MARCHF4_chr2_216252865_216377483	216320677	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	330	0.0030	22	c.517 others(41): Show c.517-36949_517-36948insGAAAGAAAGAAAGAAAGAAAGA	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MARCHF4_chr2_216252865_216377483	216336742	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02717.hp1 HG02970.hp2 others(2): Show HG02273.hp2 HG02717.hp1 HG02970.hp2 HG03098.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0026 a0001c0001t0006 a0001c0001t0007 a0001c0001t0026	a0001c0001t0006g0191 a0001c0001t0006g0192 a0001c0001t0007g0190 others(2): Show a0001c0001t0006g0191 a0001c0001t0006g0192 a0001c0001t0007g0190 a0001c0001t0007g0193 a0001c0001t0026g0001	5	330	0.0152	22	c.516 others(41): Show c.516+32981_516+33002dupTTTTTTTTTTTTTTTTTTTTTT	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MARCHF7_chr2_159707506_159776027	159764255	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00438.hp1 HG00597.hp2	a0002 a0006 a0002 a0006	a0002c0005 a0006c0009 a0002c0005 a0006c0009	a0002c0005t0003 a0006c0009t0009 a0002c0005t0003 a0006c0009t0009	a0002c0005t0003g0061 a0006c0009t0009g0036 a0002c0005t0003g0061 a0006c0009t0009g0036	2	364	0.0055	22	c.200 others(39): Show c.2008-370_2008-369insTGTGTGTGTGTGTGTGCGCGCG	MARCHF7	ENSG00000136536.15	transcript	ENST00000409175.6	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
MARK1_chr1_220523136_220669461	220586011	A A	ACACACAC others(15): Show ACACACACACACACACGCACGCG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	298	0.0034	22	c.309 others(39): Show c.309+4894_309+4895insACACACACACACACGCACGCGC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MARK1_chr1_220523136_220669461	220586011	A A	ACACACAC others(15): Show ACACACACACACACGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03688.hp2 HG03669.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0240 a0001c0003t0001g0239 a0001c0001t0001g0240 a0001c0003t0001g0239	2	298	0.0067	22	c.309 others(39): Show c.309+4894_309+4895insACACACACACACGCGCGCGCGC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MARK2_chr11_63834110_63916020	63901422	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0150 a0001c0001t0013g0150	1	232	0.0043	22	c.110 others(39): Show c.1101+367_1101+368insGTGTGTGTGTGTGTGTGTGTGT	MARK2	ENSG00000072518.23	transcript	ENST00000402010.8	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
MARK3_chr14_103380415_103508831	103452471	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01106.hp1 HG01257.hp1 others(8): Show HG00609.hp2 HG01106.hp1 HG01257.hp1 HG01346.hp1 HG01433.hp1 HG02027.hp2 NA18960.hp2 NA18968.hp2 NA19012.hp2 NA19083.hp1 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0002 a0007c0010t0002 a0001c0001t0002 a0007c0010t0002	a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0123 others(8): Show a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0152 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0184 a0001c0001t0002g0192 a0001c0001t0002g0194 a0007c0010t0002g0149	11	348	0.0316	22	c.412 others(37): Show c.412+506_412+507insTTTTTTTTTTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103460073	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01928.hp2 HG01361.hp2 HG01928.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0061 a0004c0007t0001g0344 a0001c0001t0001g0061 a0004c0007t0001g0344	2	348	0.0058	22	c.484 others(39): Show c.484-2322_484-2301dupTTTTTTTTTTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103470455	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01934.hp1 HG02027.hp1 others(8): Show HG00544.hp1 HG01934.hp1 HG02027.hp1 HG02145.hp2 HG03225.hp2 HG03927.hp1 NA18612.hp2 NA18961.hp1 NA18962.hp2 NA18973.hp2 NA18979.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0001 a0006c0012t0001 a0001c0001t0001 a0006c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0083 a0006c0012t0001g0097	11	348	0.0316	22	c.126 others(41): Show c.1264+2286_1264+2287insTTTTTTTTTTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARVELD2_chr5_69410116_69449330	69444009	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00733.hp2 others(48): Show HG00438.hp2 HG00609.hp2 HG00733.hp2 HG01081.hp2 HG01168.hp1 HG02027.hp1 HG02083.hp1 HG02135.hp1 HG02165.hp1 HG02698.hp2 HG02965.hp2 HG03225.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp1 HG03704.hp2 HG04204.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18952.hp2 NA18953.hp1 NA18956.hp2 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18993.hp2 NA19000.hp1 NA19005.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19074.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp2 NA20129.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0008 a0001c0001 a0002c0002 a0003c0008	a0001c0001t0005 a0001c0001t0016 a0001c0001t0041 others(8): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0041 a0002c0002t0005 a0002c0002t0007 a0002c0002t0016 a0002c0002t0023 a0002c0002t0028 a0002c0002t0033 a0002c0002t0050 a0003c0008t0005	a0001c0001t0005g0061 a0001c0001t0016g0144 a0001c0001t0016g0286 others(46): Show a0001c0001t0005g0061 a0001c0001t0016g0144 a0001c0001t0016g0286 a0001c0001t0041g0084 a0002c0002t0005g0001 a0002c0002t0005g0003 a0002c0002t0005g0009 a0002c0002t0005g0027 a0002c0002t0005g0178 a0002c0002t0005g0194 a0002c0002t0005g0197 a0002c0002t0005g0205 a0002c0002t0005g0216 a0002c0002t0005g0225 a0002c0002t0005g0238 a0002c0002t0005g0240 a0002c0002t0005g0241 a0002c0002t0005g0244 a0002c0002t0005g0249 a0002c0002t0005g0250 a0002c0002t0005g0251 a0002c0002t0005g0252 a0002c0002t0005g0253 a0002c0002t0005g0254 a0002c0002t0005g0258 a0002c0002t0005g0260 a0002c0002t0005g0264 a0002c0002t0005g0267 a0002c0002t0005g0270 a0002c0002t0005g0274 a0002c0002t0005g0277 a0002c0002t0007g0025 a0002c0002t0007g0027 a0002c0002t0007g0039 a0002c0002t0007g0162 a0002c0002t0007g0163 a0002c0002t0007g0165 a0002c0002t0007g0169 a0002c0002t0007g0170 a0002c0002t0007g0173 a0002c0002t0007g0174 a0002c0002t0016g0239 a0002c0002t0016g0262 a0002c0002t0023g0166 a0002c0002t0023g0172 a0002c0002t0028g0185 a0002c0002t0033g0176 a0002c0002t0050g0184 a0003c0008t0005g0207	51	345	0.1478	22	c.23 others(33): Show c.2368_*2369insAAAAAAAAAAAAAAAAAAAAAA	MARVELD2	ENSG00000152939.17	transcript	ENST00000325631.10	protein_coding	7/7	2369	INFO_REALIGN_3_PRIME	chr5	TogoVar
MAS1_chr6_159885988_159922447	159918100	A A	AATAATCT others(15): Show AATAATCTATATTATCTTTAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0030 a0001c0001t0037g0030	1	348	0.0029	22	c.10 others(35): Show c.10167_*10168insATAATCTATATTATCTTTAGAT	MAS1	ENSG00000130368.7	transcript	ENST00000674077.2	protein_coding		654		chr6	TogoVar
MAS1_chr6_159885988_159922447	159920228	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03834.hp1 HG02486.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0109 a0001c0001t0015 a0001c0001t0109	a0001c0001t0015g0097 a0001c0001t0109g0065 a0001c0001t0015g0097 a0001c0001t0109g0065	2	348	0.0058	22	c.12 others(35): Show c.12295_*12296insTATATATATATATATATATATA	MAS1	ENSG00000130368.7	transcript	ENST00000674077.2	protein_coding		2782		chr6	TogoVar
MAST1_chr19_12833515_12879952	12868103	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01255.hp2 HG02976.hp2 HG01192.hp2 HG01255.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0219 a0001c0001t0001g0265 a0001c0001t0001g0048 a0001c0001t0001g0219 a0001c0001t0001g0265	3	316	0.0095	22	c.256 others(39): Show c.2566+128_2566+149dupTTTTTTTTTTTTTTTTTTTTTT	MAST1	ENSG00000105613.10	transcript	ENST00000251472.9	protein_coding	20/25		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST2_chr1_45798612_46041122	45816221	A A	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAAAGAG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	288	0.0035	22	c.178 others(39): Show c.178-8195_178-8194insAAGAGAGAGAGAGAGAGAGAGA	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45883912	G G	GCCTCCCC others(15): Show GCCTCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	288	0.0035	22	c.500 others(39): Show c.500+1519_500+1520insTCCCCCCCCCCCCCCCCCCCCC	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45888661	C C	CCTCTTTT others(15): Show CCTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	288	0.0035	22	c.500 others(39): Show c.500+6266_500+6267insCTCTTTTTTTTTTTTTTTTTTT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28			chr1	TogoVar
MAST2_chr1_45798612_46041122	45888663	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01943.hp2 others(1): Show HG00140.hp1 HG00140.hp2 HG01943.hp2 HG02004.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0022 a0001c0001 a0013c0022	a0001c0001t0001 a0013c0022t0001 a0001c0001t0001 a0013c0022t0001	a0001c0001t0001g0176 a0001c0001t0001g0204 a0001c0001t0001g0209 others(1): Show a0001c0001t0001g0176 a0001c0001t0001g0204 a0001c0001t0001g0209 a0013c0022t0001g0138	4	288	0.0139	22	c.500 others(39): Show c.500+6283_500+6304dupTTTTTTTTTTTTTTTTTTTTTT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45939979	G G	GGGTTTTT others(15): Show GGGTTTTTTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG03209.hp2 others(2): Show HG02717.hp1 HG02723.hp2 HG03209.hp2 HG03471.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0030 others(2): Show a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0030 a0002c0002t0001g0033 a0002c0002t0001g0065	5	288	0.0174	22	c.501 others(41): Show c.501-19406_501-19405insGTTTTTTTTTTTGTTTTTTTTG	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45939989	T T	TTTTGTTT others(15): Show TTTTGTTTTTTTTGTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00544.hp2 others(103): Show HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18966.hp2 NA18970.hp1 NA18975.hp2 NA18979.hp2 NA18981.hp1 NA18988.hp1 NA19002.hp2 NA19009.hp2 NA19011.hp1 NA19043.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19077.hp1 NA19079.hp1 NA19083.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0010 a0011 a0014 a0015 a0016 a0018 a0019 a0020 a0022	a0001c0001 a0002c0002 a0002c0007 others(16): Show a0001c0001 a0002c0002 a0002c0007 a0002c0009 a0002c0014 a0002c0029 a0003c0003 a0003c0017 a0003c0018 a0003c0030 a0010c0013 a0011c0019 a0014c0024 a0015c0031 a0016c0032 a0018c0021 a0019c0026 a0020c0028 a0022c0027	a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 others(16): Show a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 a0002c0009t0001 a0002c0014t0001 a0002c0029t0001 a0003c0003t0001 a0003c0017t0001 a0003c0018t0001 a0003c0030t0001 a0010c0013t0001 a0011c0019t0001 a0014c0024t0001 a0015c0031t0001 a0016c0032t0001 a0018c0021t0001 a0019c0026t0001 a0020c0028t0001 a0022c0027t0001	a0001c0001t0001g0056 a0002c0002t0001g0015 a0002c0002t0001g0017 others(103): Show a0001c0001t0001g0056 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0096 a0002c0002t0001g0102 a0002c0007t0001g0073 a0002c0007t0001g0129 a0002c0007t0001g0131 a0002c0007t0001g0132 a0002c0009t0001g0122 a0002c0009t0001g0123 a0002c0009t0001g0124 a0002c0009t0001g0125 a0002c0014t0001g0118 a0002c0014t0001g0119 a0002c0029t0001g0116 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0097 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0109 a0003c0003t0001g0112 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0117 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0017t0001g0107 a0003c0017t0001g0108 a0003c0018t0001g0103 a0003c0018t0001g0106 a0003c0030t0001g0110 a0010c0013t0001g0126 a0010c0013t0001g0128 a0010c0013t0001g0143 a0011c0019t0001g0142 a0014c0024t0001g0082 a0015c0031t0001g0088 a0016c0032t0001g0066 a0018c0021t0001g0031 a0019c0026t0001g0127 a0020c0028t0001g0133 a0022c0027t0001g0087	106	288	0.3681	22	c.501 others(41): Show c.501-19394_501-19393insGTTTTTTTTGTTTTTTTTGTTT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST3_chr19_18092778_18156687	18100128	C C	CTCTCTTT others(15): Show CTCTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0006 a0006	a0006c0024 a0006c0024	a0006c0024t0001 a0006c0024t0001	a0006c0024t0001g0016 a0006c0024t0001g0016	1	296	0.0034	22	c.39+ others(37): Show c.39+2298_39+2299insCTCTTTTTTTTTTTTTTTTTTT	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST3_chr19_18092778_18156687	18100128	C C	CTCTTTTT others(15): Show CTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01069.hp1 HG01192.hp1 others(8): Show HG00597.hp1 HG01069.hp1 HG01192.hp1 HG01258.hp2 HG01496.hp2 HG01515.hp1 HG01975.hp1 HG02074.hp2 HG03486.hp2 NA19010.hp2 NA19064.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0010 a0005c0014 a0001c0002 a0002c0010 a0005c0014	a0001c0002t0002 a0001c0002t0004 a0002c0010t0001 others(1): Show a0001c0002t0002 a0001c0002t0004 a0002c0010t0001 a0005c0014t0002	a0001c0002t0002g0007 a0001c0002t0002g0030 a0001c0002t0002g0033 others(8): Show a0001c0002t0002g0007 a0001c0002t0002g0030 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0038 a0001c0002t0004g0037 a0002c0010t0001g0031 a0002c0010t0001g0032 a0005c0014t0002g0009	11	296	0.0372	22	c.39+ others(37): Show c.39+2298_39+2299insCTTTTTTTTTTTTTTTTTTTTT	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST4_chr5_66591393_67174593	66837023	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02738.hp1 HG02976.hp1 others(3): Show HG02559.hp2 HG02738.hp1 HG02976.hp1 HG03209.hp1 NA18906.hp1 NA18950.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0018 a0004c0011	a0001c0001t0006 a0001c0002t0005 a0001c0003t0001 others(2): Show a0001c0001t0006 a0001c0002t0005 a0001c0003t0001 a0002c0018t0002 a0004c0011t0014	a0001c0001t0006g0078 a0001c0002t0005g0038 a0001c0002t0005g0054 others(3): Show a0001c0001t0006g0078 a0001c0002t0005g0038 a0001c0002t0005g0054 a0001c0003t0001g0102 a0002c0018t0002g0019 a0004c0011t0014g0067	6	108	0.0556	22	c.642 others(41): Show c.642+48229_642+48230insGTGTGTGTGTGTGTGTGTGTGT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28			chr5	TogoVar
MAST4_chr5_66591393_67174593	66837864	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0025 a0003c0005t0025	a0003c0005t0025g0106 a0003c0005t0025g0106	1	108	0.0093	22	c.642 others(41): Show c.642+49080_642+49101dupATATATATATATATATATATAT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66845126	T T	TATATATA others(15): Show TATATATATATATATACATACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0105 a0001c0001t0026g0105	1	108	0.0093	22	c.643 others(41): Show c.643-54824_643-54823insTATATATATATATACATACACA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66847820	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02886.hp2 HG02897.hp2 others(1): Show HG02486.hp2 HG02886.hp2 HG02897.hp2 NA18906.hp2	a0004 a0016 a0004 a0016	a0004c0007 a0004c0017 a0016c0016 a0004c0007 a0004c0017 a0016c0016	a0004c0007t0003 a0004c0007t0021 a0004c0017t0005 others(1): Show a0004c0007t0003 a0004c0007t0021 a0004c0017t0005 a0016c0016t0005	a0004c0007t0003g0062 a0004c0007t0021g0057 a0004c0017t0005g0063 others(1): Show a0004c0007t0003g0062 a0004c0007t0021g0057 a0004c0017t0005g0063 a0016c0016t0005g0059	4	108	0.0370	22	c.643 others(41): Show c.643-52129_643-52108dupAAAAAAAAAAAAAAAAAAAAAA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67049023	G G	GTATATAT others(15): Show GTATATATATATACACGTATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0020 a0002c0004t0002g0020	1	108	0.0093	22	c.675 others(39): Show c.675-5369_675-5368insCACGTATATATATATATATATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67049078	T T	TATATACG others(15): Show TATATACGTATATATATATATAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0042 a0001c0001t0009g0042	1	108	0.0093	22	c.675 others(39): Show c.675-5325_675-5324insTATACGTATATATATATATACA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67069287	G G	GATAGATA others(15): Show GATAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0062 a0004c0007t0003g0062	1	108	0.0093	22	c.763 others(41): Show c.763+14798_763+14799insGATATATATATATATATATATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67069287	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG03195.hp2 others(3): Show HG02055.hp1 HG02451.hp2 HG03195.hp2 HG03486.hp1 NA18522.hp1 NA19043.hp1	a0001 a0018 a0001 a0018	a0001c0001 a0001c0002 a0001c0039 others(1): Show a0001c0001 a0001c0002 a0001c0039 a0018c0025	a0001c0001t0008 a0001c0002t0001 a0001c0002t0016 others(2): Show a0001c0001t0008 a0001c0002t0001 a0001c0002t0016 a0001c0039t0032 a0018c0025t0006	a0001c0001t0008g0028 a0001c0002t0001g0027 a0001c0002t0001g0075 others(3): Show a0001c0001t0008g0028 a0001c0002t0001g0027 a0001c0002t0001g0075 a0001c0002t0016g0071 a0001c0039t0032g0017 a0018c0025t0006g0072	6	108	0.0556	22	c.763 others(41): Show c.763+14799_763+14820dupTATATATATATATATATATATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MASTL_chr10_27150352_27192953	27172228	T T	TGTAACCC others(15): Show TGTAACCCCTGAATTTATGTTTC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	398	0.0025	22	c.212 others(39): Show c.2125-888_2125-867dupTAACCCCTGAATTTATGTTTCG	MASTL	ENSG00000120539.15	transcript	ENST00000375940.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAT2B_chr5_163500619_163524354	163502028	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	370	0.0027	22	c.-36 others(33): Show c.-3659_-3658insAAAAAAAAAAAATAATAATAAT	MAT2B	ENSG00000038274.18	transcript	ENST00000321757.11	protein_coding		3590		chr5	TogoVar
MATCAP2_chr7_36319152_36372240	36337098	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18954.hp2 NA18963.hp1 HG02602.hp2 NA18954.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0001g0101 a0001c0001t0001g0118 a0001c0001t0001g0133	3	388	0.0077	22	c.715 others(37): Show c.715-823_715-802dupTTTTTTTTTTTTTTTTTTTTTT	MATCAP2	ENSG00000164542.13	transcript	ENST00000440378.6	protein_coding	2/6			chr7	TogoVar
MATN2_chr8_97864064_98041724	97889459	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp2 HG01496.hp1 others(6): Show HG00673.hp1 HG00735.hp2 HG01496.hp1 HG01515.hp2 HG02004.hp2 HG03831.hp1 NA18949.hp2 NA18956.hp1 NA18971.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0027 a0004c0005 a0010c0039	a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0001c0027t0002 a0004c0005t0001 a0010c0039t0002	a0001c0001t0002g0027 a0001c0001t0002g0057 a0001c0002t0001g0103 others(6): Show a0001c0001t0002g0027 a0001c0001t0002g0057 a0001c0002t0001g0103 a0001c0004t0001g0149 a0001c0027t0002g0004 a0004c0005t0001g0069 a0004c0005t0001g0160 a0004c0005t0001g0188 a0010c0039t0002g0175	9	318	0.0283	22	c.142 others(39): Show c.142+1226_142+1247dupTATATATATATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97988189	T T	TATATATA others(15): Show TATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG04184.hp2 HG01256.hp2 HG04184.hp2	a0007 a0015 a0007 a0015	a0007c0040 a0015c0082 a0007c0040 a0015c0082	a0007c0040t0003 a0015c0082t0003 a0007c0040t0003 a0015c0082t0003	a0007c0040t0003g0193 a0015c0082t0003g0161 a0007c0040t0003g0193 a0015c0082t0003g0161	2	318	0.0063	22	c.108 others(41): Show c.1082-6290_1082-6289insTATATATATATATACACACACA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	98037382	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03540.hp1 HG03130.hp2 HG03540.hp1	a0001 a0008 a0001 a0008	a0001c0073 a0008c0042 a0001c0073 a0008c0042	a0001c0073t0002 a0008c0042t0019 a0001c0073t0002 a0008c0042t0019	a0001c0073t0002g0046 a0008c0042t0019g0318 a0001c0073t0002g0046 a0008c0042t0019g0318	2	318	0.0063	22	c.16 others(33): Show c.1670_*1671insTATATATATATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding		659		chr8	TogoVar
MATN2_chr8_97864064_98041724	98037392	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	318	0.0031	22	c.16 others(33): Show c.1680_*1681insTATATATATATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding		669		chr8	TogoVar
MATN3_chr2_19987052_20017668	20002191	C C	CACACACA others(15): Show CACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18989.hp1 NA19240.hp1 HG03688.hp1 NA18989.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 a0001c0001t0001 a0001c0003t0001 a0001c0010t0001	a0001c0001t0001g0192 a0001c0003t0001g0275 a0001c0010t0001g0231 a0001c0001t0001g0192 a0001c0003t0001g0275 a0001c0010t0001g0231	3	432	0.0069	22	c.917 others(37): Show c.917-112_917-111insCTGTGTGTGTGTGTGTGTGTGT	MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding	3/7			chr2	TogoVar

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