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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
MAGEC1_chrX_141898894_141914374	141906041	A A	ATTTTCCA others(308): Show ATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCC CCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGCCTCCTCCTCCACTTTAG TGAGTATTTTCCAGAGTTCCCCTGAGAGTACTCAAAGTCCTTTTGAGGGT TTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTG AGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCC TCCACTTTACTGAGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03017.hp1 HG03017.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0003 a0005c0006t0001g0003	1	308	0.0032	315	c.684 others(322): Show c.684_685insCCCCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGCCTC CTCCTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGTACTCAAA GTCCTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGC TCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAG TCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGA GCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAG AGAACTCAGAGTACTTTTGAGGGTTTT	p.Phe others(328): Show p.Phe228_Ala229insProGlnSerValLeuGlnIleProValSerAl aAlaSerSerSerThrLeuValSerIlePheGlnSerSerProGluSerT hrGlnSerProPheGluGlyPheProGlnSerProLeuGlnIleProVal SerArgSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGl uArgSerGlnArgThrSerGluGlyPheAlaGlnSerProLeuGlnIleP roValSerSerSerSerSerSerThrLeuLeuSerLeuPheGlnSerSer ProGluArgThrGlnSerThrPheGluGlyPhe	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	971/4256	685/3429	229/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906070	G G	GAGTACTT others(413): Show GAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCC CCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGA ACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGT GAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTG AGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATT CCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTC CCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCTTCTCC AGATTCCTATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAG AGTTCTCCTGAGAGTGCTCAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18971.hp1 NA18971.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0002 a0014c0014t0001g0002	1	353	0.0028	420	c.684 others(427): Show c.684_685insCCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTC CTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGA GTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCC TCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAAC TCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGA GCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAG AGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCTTCTCCAGATTCC TATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTC CTGAGAGTGCTCAAAGTACTTTTGAGGGTTTT	p.Phe others(433): Show p.Phe228_Ala229insProGlnSerProLeuGlnIleProValSerPr oSerSerSerSerThrLeuLeuSerLeuPheGlnSerPheSerGluArgT hrGlnSerThrPheGluGlyPheAlaGlnSerSerLeuGlnIleProVal SerProSerPheSerSerThrLeuLeuSerLeuPheGlnSerSerProGl uArgThrGlnSerThrPheGluGlyPheProGlnSerProLeuGlnIleP roValSerSerSerSerSerSerThrLeuLeuSerLeuPheGlnSerSer ProGluArgThrHisSerThrPheGluGlyPheProGlnSerLeuLeuGl nIleProMetThrSerSerPheSerSerThrLeuLeuSerIlePheGlnS erSerProGluSerAlaGlnSerThrPheGluGlyPhe	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	971/4256	685/3429	229/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906089	G G	GCCCAGTC others(98): Show GCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTT ACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGG GTTTTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18522.hp1 NA18522.hp1	a0094 a0094	a0094c0108 a0094c0108	a0094c0108t0001 a0094c0108t0001	a0094c0108t0001g0001 a0094c0108t0001g0001	1	288	0.0035	105	c.714 others(112): Show c.714_715insTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAG TTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCTC TCCAGATTCCTGTGAGC	p.Ser others(118): Show p.Ser238_Pro239insSerSerSerSerSerThrLeuLeuSerLeuPh eGlnSerSerProGluArgThrGlnSerThrPheGluGlyPheProGlnS erProLeuGlnIleProValSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1001/4256	715/3429	239/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906175	G G	GAGTACTT others(203): Show GAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCC GCTCCTTCTCCTCCACTTTACTGAGTATTTTCCAGAGTTCCCCTGAGAGA ACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTAT GACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTCCTG AGAGTGCTCAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02717.hp1 NA19240.hp1 HG02717.hp1 NA19240.hp1	a0027 a0027	a0027c0020 a0027c0020	a0027c0020t0003 a0027c0020t0003	a0027c0020t0003g0005 a0027c0020t0003g0005	2	353	0.0057	210	c.789 others(217): Show c.789_790insCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTT CTCCTCCACTTTACTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGA GTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTATGACCTCC TCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTCCTGAGAGTGC TCAAAGTACTTTTGAGGGTTTT	p.Phe others(223): Show p.Phe263_Ala264insProGlnSerProLeuGlnIleProValSerAr gSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArgT hrGlnSerThrPheGluGlyPheAlaGlnSerProLeuGlnIleProMet ThrSerSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGl uSerAlaGlnSerThrPheGluGlyPhe	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1076/4256	790/3429	264/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906175	G G	GAGTACTT others(413): Show GAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCC GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGA AGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGT GAGCGCCGCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTG AGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATT CCTGTGAGCCGCTCCTTCTCCTCCACTTTACTGAGTATTTTCCAGAGTTC CCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCC AGATTCCTATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAG AGTTCTCCTGAGAGTGCTCAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03486.hp1 HG03486.hp1	a0027 a0027	a0027c0020 a0027c0020	a0027c0020t0003 a0027c0020t0003	a0027c0020t0003g0005 a0027c0020t0003g0005	1	352	0.0028	420	c.789 others(427): Show c.789_790insCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTT CTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGA GAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCGCC GCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAAC TCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGA GCCGCTCCTTCTCCTCCACTTTACTGAGTATTTTCCAGAGTTCCCCTGAG AGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCC TATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTC CTGAGAGTGCTCAAAGTACTTTTGAGGGTTTT	p.Phe others(433): Show p.Phe263_Ala264insProGlnSerProLeuGlnIleProValSerAr gSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArgS erGlnArgThrSerGluGlyPheAlaGlnSerProLeuGlnIleProVal SerAlaAlaSerSerSerThrLeuLeuSerLeuPheGlnSerSerProGl uArgThrGlnSerThrPheGluGlyPheProGlnSerProLeuGlnIleP roValSerArgSerPheSerSerThrLeuLeuSerIlePheGlnSerSer ProGluArgThrGlnSerThrPheGluGlyPheAlaGlnSerProLeuGl nIleProMetThrSerSerPheSerSerThrLeuLeuSerIlePheGlnS erSerProGluSerAlaGlnSerThrPheGluGlyPhe	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1076/4256	790/3429	264/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906175	G G	GAGTACTT others(98): Show GAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCC CCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGA ACTCAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0001 a0001c0039t0001	a0001c0039t0001g0001 a0001c0039t0001g0001	1	352	0.0028	105	c.798 others(112): Show c.798_799insCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCAC TTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCACAGTACTTTTG AGGGTTTTGCCCAGTCT	p.Ser others(118): Show p.Ser266_Ser267insProLeuGlnIleProValSerProSerSerSe rSerThrLeuLeuSerLeuPheGlnSerPheSerGluArgThrHisSerT hrPheGluGlyPheAlaGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1085/4256	799/3429	267/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906202	T T	TCCACTCC others(95): Show TCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTA TTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCC CAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19240.hp2 NA19240.hp2	a0111 a0111	a0111c0101 a0111c0101	a0111c0101t0001 a0111c0101t0001	a0111c0101t0001g0010 a0111c0101t0001g0010	1	356	0.0028	102	c.798 others(109): Show c.798_799insCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTG AGGGTTTTCCCCAG	p.Ser others(115): Show p.Ser266_Ser267insProLeuGlnIleProValSerArgSerPheSe rSerThrLeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerT hrPheGluGlyPheProGln	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1085/4256	799/3429	267/1142		chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906202	T T	TCCACTCC others(305): Show TCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTA TTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCA CAGTCTCCTCTCCAGATTCCTGTGAGCCGCTCCTCGTCCTCCACTTTACT GAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTT TTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACT TTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGA GGGTTTTCCCCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03486.hp2 HG03486.hp2	a0086 a0086	a0086c0103 a0086c0103	a0086c0103t0003 a0086c0103t0003	a0086c0103t0003g0005 a0086c0103t0003g0005	1	356	0.0028	312	c.798 others(319): Show c.798_799insCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTG AGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCCGCTCCTCGTCC TCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTAC TTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCT TCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAG AGTACTTTTGAGGGTTTTCCCCAG	p.Ser others(325): Show p.Ser266_Ser267insProLeuGlnIleProValSerArgSerPheSe rSerThrLeuLeuSerIlePheGlnSerSerProGluArgSerGlnArgT hrSerGluGlyPheAlaGlnSerProLeuGlnIleProValSerArgSer SerSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArgThrGl nSerThrPheGluGlyPheProGlnSerProLeuGlnIleProValSerA rgSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArg ThrGlnSerThrPheGluGlyPheProGln	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1085/4256	799/3429	267/1142		chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906232	C C	CTCCTCCA others(98): Show CTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGA GAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCCGC TCCTCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02723.hp1 HG02723.hp1	a0078 a0078	a0078c0090 a0078c0090	a0078c0090t0003 a0078c0090t0003	a0078c0090t0003g0005 a0078c0090t0003g0005	1	357	0.0028	105	c.840 others(112): Show c.840_841insTTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAG AACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCCGCT CCTCGTCCTCCACTTTA	p.Leu others(118): Show p.Leu280_Val281insLeuSerIlePheGlnSerSerProGluArgSe rGlnArgThrSerGluGlyPheAlaGlnSerProLeuGlnIleProValS erArgSerSerSerSerThrLeu	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1127/4256	841/3429	281/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906245	G G	GTGAGTAT others(98): Show GTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCA CTTTAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02109.hp2 HG02559.hp2 HG03225.hp1 others(1): Show HG02109.hp2 HG02559.hp2 HG03225.hp1 NA19043.hp1	a0021 a0021	a0021c0018 a0021c0018	a0021c0018t0001 a0021c0018t0001	a0021c0018t0001g0002 a0021c0018t0001g0002	4	234	0.0171	105	c.846 others(112): Show c.846_847insATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTT TGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCT CCTCCACTTTATTGAGT	p.Ser others(118): Show p.Ser282_Leu283insIlePheGlnSerSerProGluArgThrGlnSe rThrPheGluGlyPheProGlnSerProLeuGlnIleProValSerSerS erSerSerSerThrLeuLeuSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1133/4256	847/3429	283/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906245	G G	GTGAGTAT others(203): Show GTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCA CTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTT GAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTC CTCCACTTTAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA20129.hp1 NA20129.hp1	a0112 a0112	a0112c0142 a0112c0142	a0112c0142t0001 a0112c0142t0001	a0112c0142t0001g0002 a0112c0142t0001g0002	1	231	0.0043	210	c.846 others(217): Show c.846_847insATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTT TGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCT CCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGT ACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTC CTCCTCCTCCACTTTATTGAGT	p.Ser others(223): Show p.Ser282_Leu283insIlePheGlnSerSerProGluArgThrGlnSe rThrPheGluGlyPheProGlnSerProLeuGlnIleProValSerSerS erSerSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArgThr GlnSerThrPheGluGlyPheProGlnSerProLeuGlnIleProValSe rSerSerSerSerSerThrLeuLeuSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1133/4256	847/3429	283/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906266	C C	CCTGAGAG others(98): Show CCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCA GATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGA GTTTCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19065.hp2 NA19065.hp2	a0108 a0108	a0108c0074 a0108c0074	a0108c0074t0001 a0108c0074t0001	a0108c0074t0001g0001 a0108c0074t0001g0001	1	340	0.0029	105	c.894 others(112): Show c.894_895insGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTC CTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGA GTACTTTTGAGGGTTTT	p.Phe others(118): Show p.Phe298_Pro299insAlaGlnSerProLeuGlnIleProValSerPr oSerSerSerSerThrLeuLeuSerLeuPheGlnSerPheSerGluArgT hrGlnSerThrPheGluGlyPhe	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1181/4256	895/3429	299/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906336	C C	CCTCCTCC others(98): Show CCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAG AGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC CTCCTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18957.hp2 NA18957.hp2	a0100 a0100	a0100c0085 a0100c0085	a0100c0085t0001 a0100c0085t0001	a0100c0085t0001g0001 a0100c0085t0001g0001	1	333	0.0030	105	c.945 others(112): Show c.945_946insCTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAG TACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCT CCTTCTCCTCCACTTTA	p.Leu others(118): Show p.Leu316_Ser317insSerLeuPheGlnSerPheSerGluArgThrGl nSerThrPheGluGlyPheAlaGlnSerSerLeuGlnIleProValSerP roSerPheSerSerThrLeuLeu	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1232/4256	946/3429	316/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906490	A A	AAGTGCTT others(98): Show AAGTGCTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGGGAGCC CCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGA ACTCAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19077.hp2 NA19077.hp2	a0110 a0110	a0110c0100 a0110c0100	a0110c0100t0001 a0110c0100t0001	a0110c0100t0001g0001 a0110c0100t0001g0001	1	346	0.0029	105	c.108 others(114): Show c.1089_1090insGCTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATT CCTGGGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTC CCCTGAGAGAACTCACAGT	p.Ser others(118): Show p.Ser363_Thr364insAlaPheGluGlyPheProGlnSerProLeuGl nIleProGlySerProSerPheSerSerThrLeuLeuSerLeuPheGlnS erSerProGluArgThrHisSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1376/4256	1090/3429	364/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGI1_chr3_65348526_66043918	65439885	T T	TCTG TCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG00738.hp2 HG01123.hp2 others(19): Show HG00140.hp2 HG00738.hp2 HG01123.hp2 HG01167.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01891.hp2 HG01952.hp1 HG02040.hp2 HG02145.hp2 HG02155.hp2 HG02559.hp1 HG02735.hp1 HG03239.hp2 HG03540.hp2 HG03927.hp1 HG03942.hp1 NA18747.hp1 NA19030.hp2 NA20805.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0010 a0002c0008t0001	a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0023 others(19): Show a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0023 a0002c0002t0001g0031 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0049 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0069 a0002c0002t0001g0083 a0002c0002t0001g0087 a0002c0002t0001g0097 a0002c0002t0002g0041 a0002c0002t0002g0068 a0002c0002t0002g0084 a0002c0002t0003g0017 a0002c0002t0003g0050 a0002c0002t0007g0066 a0002c0002t0010g0013 a0002c0008t0001g0092	22	99	0.2222	3	c.126 others(12): Show c.1261_1263dupCAG	p.Gln others(6): Show p.Gln421dup	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	9/23	1873/7851	1263/4389	421/1462		chr3	TogoVar
MAGI1_chr3_65348526_66043918	65439885	T T	TCTGCTG TCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02055.hp1 HG02572.hp1 HG02965.hp1 others(2): Show HG02055.hp1 HG02572.hp1 HG02965.hp1 HG02970.hp1 NA18906.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0012 a0004c0004t0001 a0004c0004t0012	a0004c0004t0001g0057 a0004c0004t0001g0073 a0004c0004t0001g0090 others(2): Show a0004c0004t0001g0057 a0004c0004t0001g0073 a0004c0004t0001g0090 a0004c0004t0001g0094 a0004c0004t0012g0103	5	82	0.0610	6	c.125 others(15): Show c.1258_1263dupCAGCAG	p.Gln others(13): Show p.Gln420_Gln421dup	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	9/23	1873/7851	1263/4389	421/1462		chr3	TogoVar
MANF_chr3_51380291_51394397	51385326	G G	GGAGGAGG others(2): Show GGAGGAGGAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18979.hp2 NA18982.hp2 NA19078.hp2 NA18979.hp2 NA18982.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0006g0001 a0001c0001t0006g0002	3	380	0.0079	9	c.4_1 others(13): Show c.4_12dupAGGAGGATG	p.Arg others(9): Show p.Arg2_Met4dup	MANF	ENSG00000145050.19	transcript	ENST00000528157.7	protein_coding	1/4	65/909	13/549	5/182	INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K5_chr6_136552046_136797477	136592528	T T	TGTC TGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03017.hp1 HG03017.hp2 HG03017.hp1 HG03017.hp2	a0003 a0003	a0003c0017 a0003c0025 a0003c0017 a0003c0025	a0003c0017t0001 a0003c0025t0001 a0003c0017t0001 a0003c0025t0001	a0003c0017t0001g0033 a0003c0025t0001g0097 a0003c0017t0001g0033 a0003c0025t0001g0097	2	160	0.0125	3	c.296 others(12): Show c.2962_2964dupGAC	p.Asp others(6): Show p.Asp988dup	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	22/30	3284/5157	2964/4125	988/1374		chr6	TogoVar
MAPK1_chr22_21754657_21872645	21867418	C C	CCCG CCCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01358.hp2 HG01952.hp1 HG02148.hp2 others(4): Show HG01358.hp2 HG01952.hp1 HG02148.hp2 HG03098.hp1 HG03704.hp1 NA20300.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0050 a0002c0002t0001 a0002c0002t0050	a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0006 others(4): Show a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0050g0004	7	346	0.0202	3	c.20_ others(8): Show c.20_22dupCGG	p.Ala others(4): Show p.Ala7dup	MAPK1	ENSG00000100030.15	transcript	ENST00000215832.11	protein_coding	1/9	227/5881	22/1083	8/360		chr22	TogoVar
MBD2_chr18_54146606_54229669	54224211	C C	CGCT CGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02055.hp2 HG02572.hp1 HG02723.hp2 others(4): Show HG02055.hp2 HG02572.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02976.hp1 HG03453.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0006 a0003c0003t0037 a0003c0003t0005 a0003c0003t0006 a0003c0003t0037	a0003c0003t0005g0014 a0003c0003t0005g0015 a0003c0003t0005g0016 others(4): Show a0003c0003t0005g0014 a0003c0003t0005g0015 a0003c0003t0005g0016 a0003c0003t0005g0017 a0003c0003t0005g0019 a0003c0003t0006g0013 a0003c0003t0037g0018	7	298	0.0235	3	c.346 others(10): Show c.346_348dupAGC	p.Ser others(6): Show p.Ser116dup	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	1/7	458/5064	348/1236	116/411		chr18	TogoVar
MBD2_chr18_54146606_54229669	54224214	T T	TGCC TGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(22): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00738.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01516.hp1 HG02132.hp1 HG03225.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 NA18948.hp1 NA18979.hp1 NA18983.hp2 NA19000.hp1 NA19010.hp2 NA19077.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 others(7): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0014 a0002c0002t0017 a0002c0002t0034 a0002c0002t0036 a0002c0002t0038 a0002c0002t0048 a0002c0002t0049	a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0004g0001 others(18): Show a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0004g0001 a0002c0002t0004g0266 a0002c0002t0004g0267 a0002c0002t0004g0276 a0002c0002t0004g0277 a0002c0002t0006g0273 a0002c0002t0014g0268 a0002c0002t0014g0270 a0002c0002t0014g0278 a0002c0002t0014g0279 a0002c0002t0014g0280 a0002c0002t0017g0261 a0002c0002t0017g0264 a0002c0002t0017g0265 a0002c0002t0034g0263 a0002c0002t0036g0262 a0002c0002t0038g0271 a0002c0002t0048g0272 a0002c0002t0049g0269	25	297	0.0842	3	c.343 others(10): Show c.343_345dupGGC	p.Gly others(6): Show p.Gly115dup	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	1/7	455/5064	345/1236	115/411		chr18	TogoVar
MBD2_chr18_54146606_54229669	54224214	T T	TGCCGCCG others(14): Show TGCCGCCGCCGCCGCAGCCGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00323.hp1 HG00323.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0281 a0004c0008t0001g0281	1	273	0.0037	21	c.325 others(28): Show c.325_345dupGGCGGCTGCGGCGGCGGCGGC	p.Gly others(34): Show p.Gly115_Ser116insGlyGlyCysGlyGlyGlyGly	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	1/7	455/5064	345/1236	115/411		chr18	TogoVar
MCC_chr5_113017106_113493453	113488330	T T	TGCTGCTG others(5): Show TGCTGCTGCTGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00733.hp1 HG03654.hp1 HG04199.hp1 others(3): Show HG00733.hp1 HG03654.hp1 HG04199.hp1 NA18957.hp1 NA18981.hp1 NA19002.hp2	a0004 a0004	a0004c0019 a0004c0053 a0004c0054 others(1): Show a0004c0019 a0004c0053 a0004c0054 a0004c0055	a0004c0019t0003 a0004c0019t0004 a0004c0019t0014 others(3): Show a0004c0019t0003 a0004c0019t0004 a0004c0019t0014 a0004c0053t0001 a0004c0054t0001 a0004c0055t0005	a0004c0019t0003g0113 a0004c0019t0004g0112 a0004c0019t0014g0117 others(3): Show a0004c0019t0003g0113 a0004c0019t0004g0112 a0004c0019t0014g0117 a0004c0053t0001g0114 a0004c0054t0001g0115 a0004c0055t0005g0116	6	158	0.0380	12	c.84_ others(17): Show c.84_85insGGCAGCAGCAGC	p.Ser others(23): Show p.Ser28_Ser29insGlySerSerSer	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	1/19	123/8295	84/3060	28/1019		chr5	TogoVar
MCC_chr5_113017106_113493453	113488351	T T	TGCC TGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00323.hp1 HG00408.hp2 HG00621.hp1 others(39): Show HG00323.hp1 HG00408.hp2 HG00621.hp1 HG00639.hp1 HG00741.hp1 HG01071.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01361.hp2 HG02040.hp2 HG02145.hp1 HG02257.hp1 HG02293.hp1 HG02683.hp1 HG04115.hp1 NA18612.hp1 NA18945.hp1 NA18947.hp1 NA18955.hp1 NA18970.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18998.hp2 NA19001.hp2 NA19010.hp1 NA19010.hp2 NA19058.hp1 NA19065.hp1 NA19074.hp2 NA19083.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0002 a0010 a0002 a0010	a0002c0001 a0002c0002 a0002c0013 others(4): Show a0002c0001 a0002c0002 a0002c0013 a0002c0029 a0002c0056 a0002c0057 a0010c0059	a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 others(12): Show a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0014 a0002c0001t0033 a0002c0001t0037 a0002c0002t0001 a0002c0002t0012 a0002c0013t0003 a0002c0013t0015 a0002c0013t0016 a0002c0029t0001 a0002c0056t0003 a0002c0057t0029 a0010c0059t0001	a0002c0001t0002g0119 a0002c0001t0002g0121 a0002c0001t0002g0123 others(39): Show a0002c0001t0002g0119 a0002c0001t0002g0121 a0002c0001t0002g0123 a0002c0001t0002g0124 a0002c0001t0002g0125 a0002c0001t0002g0127 a0002c0001t0002g0133 a0002c0001t0002g0144 a0002c0001t0002g0145 a0002c0001t0002g0146 a0002c0001t0002g0150 a0002c0001t0002g0155 a0002c0001t0003g0126 a0002c0001t0003g0136 a0002c0001t0003g0137 a0002c0001t0004g0152 a0002c0001t0004g0157 a0002c0001t0004g0158 a0002c0001t0014g0134 a0002c0001t0033g0142 a0002c0001t0037g0153 a0002c0002t0001g0120 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0143 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0012g0122 a0002c0013t0003g0141 a0002c0013t0015g0130 a0002c0013t0015g0139 a0002c0013t0016g0151 a0002c0029t0001g0131 a0002c0029t0001g0132 a0002c0056t0003g0135 a0002c0057t0029g0118 a0010c0059t0001g0160	42	155	0.2710	3	c.61_ others(8): Show c.61_63dupGGC	p.Gly others(5): Show p.Gly21dup	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	1/19	102/8295	63/3060	21/1019		chr5	TogoVar
MED15_chr22_20502610_20592619	20566526	A A	ACAG ACAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG00280.hp2 HG00438.hp1 others(49): Show HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01109.hp1 HG01192.hp2 HG01433.hp2 HG01515.hp2 HG02132.hp1 HG02135.hp1 HG02258.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02818.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03471.hp1 HG03491.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG04184.hp1 NA18747.hp2 NA18939.hp2 NA18952.hp1 NA18956.hp2 NA18962.hp1 NA18963.hp2 NA18967.hp2 NA18993.hp1 NA19000.hp1 NA19003.hp1 NA19009.hp1 NA19011.hp1 NA19057.hp1 NA19068.hp2 NA19070.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA20129.hp1 NA20805.hp2	a0002 a0015 a0002 a0015	a0002c0003 a0002c0014 a0015c0015 a0002c0003 a0002c0014 a0015c0015	a0002c0003t0001 a0002c0003t0012 a0002c0014t0001 others(1): Show a0002c0003t0001 a0002c0003t0012 a0002c0014t0001 a0015c0015t0011	a0002c0003t0001g0007 a0002c0003t0001g0013 a0002c0003t0001g0106 others(47): Show a0002c0003t0001g0007 a0002c0003t0001g0013 a0002c0003t0001g0106 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0159 a0002c0003t0001g0160 a0002c0003t0001g0161 a0002c0003t0001g0162 a0002c0003t0001g0163 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0001g0171 a0002c0003t0001g0172 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0178 a0002c0003t0001g0179 a0002c0003t0001g0180 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0001g0186 a0002c0003t0001g0293 a0002c0003t0001g0294 a0002c0003t0001g0295 a0002c0003t0001g0296 a0002c0003t0001g0297 a0002c0003t0001g0298 a0002c0003t0001g0314 a0002c0003t0012g0173 a0002c0014t0001g0189 a0015c0015t0011g0177	52	320	0.1625	3	c.784 others(10): Show c.784_786dupCAG	p.Gln others(6): Show p.Gln262dup	MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding	7/18	856/3351	787/2367	263/788	INFO_REALIGN_3_PRIME	chr22	TogoVar
MED15_chr22_20502610_20592619	20566526	A A	ACAGCAGC others(5): Show ACAGCAGCAGCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00741.hp1 HG00741.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0187 a0009c0013t0001g0187	1	269	0.0037	12	c.775 others(19): Show c.775_786dupCAGCAGCAGCAG	p.Gln others(13): Show p.Gln259_Gln262dup	MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding	7/18	856/3351	787/2367	263/788	INFO_REALIGN_3_PRIME	chr22	TogoVar
MEIS3_chr19_47398124_47424527	47417215	T T	TGTCCAAG others(5): Show TGTCCAAGCCTGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0138 a0002c0006t0001g0138	1	250	0.0040	12	c.136 others(19): Show c.136_147dupCCAGGCTTGGAC	p.Asp others(23): Show p.Asp49_Ser50insProGlyLeuAsp	MEIS3	ENSG00000105419.18	transcript	ENST00000558555.6	protein_coding	2/13	593/2021	147/1128	49/375		chr19	TogoVar
MESP1_chr15_89744875_89756249	89751065	G G	GCGGGGCT others(5): Show GCGGGGCTCGGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(92): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01993.hp2 HG02055.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18950.hp1 NA18952.hp2 NA18956.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18998.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19078.hp2 NA19079.hp2 NA19089.hp1 NA19240.hp1 NA20752.hp1 NA20905.hp1	a0002 a0005 a0009 others(1): Show a0002 a0005 a0009 a0013	a0002c0002 a0002c0010 a0002c0011 others(6): Show a0002c0002 a0002c0010 a0002c0011 a0002c0012 a0002c0015 a0002c0031 a0005c0009 a0009c0016 a0013c0038	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0010t0001 a0002c0011t0002 a0002c0011t0003 a0002c0012t0002 a0002c0015t0001 a0002c0031t0001 a0005c0009t0001 a0009c0016t0001 a0013c0038t0001	a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0002g0039 others(11): Show a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0002g0039 a0002c0002t0004g0027 a0002c0010t0001g0010 a0002c0011t0002g0024 a0002c0011t0003g0025 a0002c0012t0002g0014 a0002c0015t0001g0023 a0002c0015t0001g0040 a0002c0031t0001g0041 a0005c0009t0001g0009 a0009c0016t0001g0018 a0013c0038t0001g0049	95	426	0.2230	12	c.166 others(19): Show c.166_167insTGCCGAGCCCCG	p.Pro others(23): Show p.Pro55_Ala56insValProSerPro	MESP1	ENSG00000166823.6	transcript	ENST00000300057.5	protein_coding	1/2	184/1094	166/807	56/268		chr15	TogoVar
MFGE8_chr15_88893683_88918379	88909876	T T	TAAAAAAA others(101): Show TAAAAAAAAAAAAGAAATATAAAAAAAAAAAAAAAAAAAAAAATAAAATT AAAATCAAAAAAAAAGAAAAAATTAAAAAATAAATAATAAATATATAAAT AAAAAATCA	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG01934.hp2 HG01934.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0002 a0009c0016t0002	a0009c0016t0002g0215 a0009c0016t0002g0215	1	434	0.0023	108	c.120 others(115): Show c.120_121insTGATTTTTTATTTATATATTTATTATTTATTTTTTAAT TTTTTCTTTTTTTTTGATTTTAATTTTATTTTTTTTTTTTTTTTTTTTTT TATATTTCTTTTTTTTTTTT	p.Glu others(119): Show p.Glu40_Ile41insTerPhePheIleTyrIlePheIleIleTyrPheL euIlePheSerPhePheLeuIleLeuIleLeuPhePhePhePhePhePhe PheLeuTyrPhePhePhePhePhe	MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding	2/8	180/1936	120/1164	40/387		chr15	TogoVar
MKI67_chr10_128091659_128131423	128107489	T T	TGCTGGG TGCTGGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00735.hp2 HG02257.hp2 HG02965.hp1 HG00735.hp2 HG02257.hp2 HG02965.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0016 a0015c0017t0016	a0015c0017t0016g0035 a0015c0017t0016g0122 a0015c0017t0016g0035 a0015c0017t0016g0122	3	406	0.0074	6	c.435 others(15): Show c.4350_4351insCCCAGC	p.Gly others(21): Show p.Gly1450_Ser1451insProSer	MKI67	ENSG00000148773.14	transcript	ENST00000368654.8	protein_coding	13/15	4764/12716	4350/9771	1450/3256		chr10	TogoVar
MLLT10_chr10_21529232_21748630	21617189	T T	TCATGAGA others(8): Show TCATGAGAAAGAGAAA	conservative_inframe_insertion others(1): Show conservative_inframe_insertion splice_region_variant	MODERATE	NA18971.hp2 NA18971.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0030 a0005c0009t0001g0030	1	190	0.0053	15	c.682 others(22): Show c.682_696dupCATGAGAAAGAGAAA	p.His others(13): Show p.His228_Lys232dup	MLLT10	ENSG00000078403.17	transcript	ENST00000307729.12	protein_coding	8/23	986/5143	697/3207	233/1068	INFO_REALIGN_3_PRIME	chr10	TogoVar
MMP24OS_chr20_35271352_35283122	35277773	T T	TGGGCTC TGGGCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03041.hp1 HG03239.hp2 NA18986.hp2 others(1): Show HG03041.hp1 HG03239.hp2 NA18986.hp2 NA21309.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0012 a0002c0002 a0007c0012	a0002c0002t0003 a0002c0002t0004 a0007c0012t0004 a0002c0002t0003 a0002c0002t0004 a0007c0012t0004	a0002c0002t0003g0003 a0002c0002t0004g0004 a0007c0012t0004g0037 a0002c0002t0003g0003 a0002c0002t0004g0004 a0007c0012t0004g0037	4	372	0.0108	6	c.151 others(13): Show c.151_156dupGAGCCC	p.Pro others(17): Show p.Pro52_Ser53insGluPro	MMP24OS	ENSG00000126005.17	transcript	ENST00000456790.2	protein_coding	2/2	273/1695	156/216	52/71		chr20	TogoVar
MMP24OS_chr20_35271352_35283122	35277779	C C	CGGGCTCG others(5): Show CGGGCTCGGGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(87): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02083.hp2 HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02698.hp2 HG02738.hp1 HG02886.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18964.hp2 NA18972.hp1 NA18983.hp1 NA18986.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19057.hp1 NA19066.hp2 NA19077.hp1 NA19079.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0010 a0002c0002t0003 a0002c0002t0004 a0002c0002t0010	a0002c0002t0003g0003 a0002c0002t0004g0004 a0002c0002t0010g0011 a0002c0002t0003g0003 a0002c0002t0004g0004 a0002c0002t0010g0011	90	351	0.2564	12	c.150 others(19): Show c.150_151insCAGCCCGAGCCC	p.Pro others(23): Show p.Pro50_Glu51insGlnProGluPro	MMP24OS	ENSG00000126005.17	transcript	ENST00000456790.2	protein_coding	2/2	267/1695	150/216	50/71		chr20	TogoVar
MMP24OS_chr20_35271352_35283122	35277779	C C	CGGGCTCG others(11): Show CGGGCTCGGGCTGGGGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0004 a0005c0011t0004	a0005c0011t0004g0036 a0005c0011t0004g0036	1	262	0.0038	18	c.150 others(25): Show c.150_151insCAGCCCCAGCCCGAGCCC	p.Pro others(29): Show p.Pro50_Glu51insGlnProGlnProGluPro	MMP24OS	ENSG00000126005.17	transcript	ENST00000456790.2	protein_coding	2/2	267/1695	150/216	50/71		chr20	TogoVar
MMP24OS_chr20_35271352_35283122	35277779	C C	CGGGCTCG others(23): Show CGGGCTCGGGCTGGGGCTGGGGCTGGGGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0017 a0002c0007t0004g0017	2	263	0.0076	30	c.150 others(37): Show c.150_151insCAGCCCCAGCCCCAGCCCCAGCCCGAGCCC	p.Pro others(41): Show p.Pro50_Glu51insGlnProGlnProGlnProGlnProGluPro	MMP24OS	ENSG00000126005.17	transcript	ENST00000456790.2	protein_coding	2/2	267/1695	150/216	50/71		chr20	TogoVar
MMP24OS_chr20_35271352_35283122	35277779	C C	CGGGCTG CGGGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01433.hp1 HG02723.hp2 HG02922.hp2 others(5): Show HG01433.hp1 HG02723.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03195.hp2 NA18986.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0003 a0002c0002t0004 a0002c0004t0001 others(3): Show a0002c0002t0003 a0002c0002t0004 a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 a0002c0004t0015	a0002c0002t0003g0003 a0002c0002t0004g0004 a0002c0004t0001g0023 others(3): Show a0002c0002t0003g0003 a0002c0002t0004g0004 a0002c0004t0001g0023 a0002c0004t0002g0022 a0002c0004t0005g0014 a0002c0004t0015g0024	8	269	0.0297	6	c.145 others(13): Show c.145_150dupCAGCCC	p.Pro others(17): Show p.Pro50_Glu51insGlnPro	MMP24OS	ENSG00000126005.17	transcript	ENST00000456790.2	protein_coding	2/2	267/1695	150/216	50/71		chr20	TogoVar
MMP24OS_chr20_35271352_35283122	35277779	C C	CGGGCTGG others(5): Show CGGGCTGGGGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01884.hp1 HG02258.hp2 NA19043.hp1 HG01884.hp1 HG02258.hp2 NA19043.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0005 a0002c0005t0001 a0002c0005t0005	a0002c0005t0001g0021 a0002c0005t0005g0013 a0002c0005t0001g0021 a0002c0005t0005g0013	3	264	0.0114	12	c.139 others(19): Show c.139_150dupCAGCCCCAGCCC	p.Pro others(23): Show p.Pro50_Glu51insGlnProGlnPro	MMP24OS	ENSG00000126005.17	transcript	ENST00000456790.2	protein_coding	2/2	267/1695	150/216	50/71		chr20	TogoVar
MMP24OS_chr20_35271352_35283122	35277779	C C	CGGGCTGG others(11): Show CGGGCTGGGGCTGGGGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01123.hp2 HG01123.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0020 a0005c0010t0001g0020	1	262	0.0038	18	c.133 others(25): Show c.133_150dupCAGCCCCAGCCCCAGCCC	p.Pro others(29): Show p.Pro50_Glu51insGlnProGlnProGlnPro	MMP24OS	ENSG00000126005.17	transcript	ENST00000456790.2	protein_coding	2/2	267/1695	150/216	50/71		chr20	TogoVar
MN1_chr22_27743277_27806756	27799618	T T	TGCTGCTG others(11): Show TGCTGCTGCTGCTGCTGGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG04115.hp1 HG04115.hp1	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0032 a0008c0025t0032	a0008c0025t0032g0370 a0008c0025t0032g0370	1	392	0.0026	18	c.908 others(25): Show c.908_925dupCCCAGCAGCAGCAGCAGC	p.Pro others(13): Show p.Pro303_Gln308dup	MN1	ENSG00000169184.7	transcript	ENST00000302326.5	protein_coding	1/2	2138/7814	925/3963	309/1320		chr22	TogoVar
MPND_chr19_4338562_4365078	4343880	G G	GGGGGGCT others(11): Show GGGGGGCTGCGGCGGGCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19007.hp1 NA19007.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0088 a0007c0018t0001g0088	1	422	0.0024	18	c.187 others(25): Show c.187_204dupTGCGGCGGGCCCGGGGGC	p.Cys others(11): Show p.Cys63_Gly68dup	MPND	ENSG00000008382.16	transcript	ENST00000599840.6	protein_coding	2/13	237/1614	205/1506	69/501	INFO_REALIGN_3_PRIME	chr19	TogoVar
MSH3_chr5_80649652_80881815	80654899	G G	GCAGCGCC others(11): Show GCAGCGCCCCCAGCGCCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02630.hp1 HG03225.hp2 NA19030.hp1 others(1): Show HG02630.hp1 HG03225.hp2 NA19030.hp1 NA21309.hp2	a0010 a0010	a0010c0011 a0010c0023 a0010c0011 a0010c0023	a0010c0011t0005 a0010c0023t0023 a0010c0011t0005 a0010c0023t0023	a0010c0011t0005g0014 a0010c0011t0005g0015 a0010c0011t0005g0029 others(1): Show a0010c0011t0005g0014 a0010c0011t0005g0015 a0010c0011t0005g0029 a0010c0023t0023g0019	4	354	0.0113	18	c.177 others(25): Show c.177_178insCCCCCAGCGCCCCCAGCG	p.Ala others(29): Show p.Ala59_Ala60insProProAlaProProAla	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	1/24	254/4443	178/3414	60/1137	INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80654899	G G	GCAGCGCC others(20): Show GCAGCGCCCCCAGCGCCCCCAGCGCCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01496.hp1 HG02257.hp2 HG02451.hp1 others(2): Show HG01496.hp1 HG02257.hp2 HG02451.hp1 HG02970.hp1 HG03195.hp2	a0011 a0016 a0011 a0016	a0011c0016 a0011c0022 a0016c0017 a0011c0016 a0011c0022 a0016c0017	a0011c0016t0005 a0011c0022t0005 a0016c0017t0005 a0011c0016t0005 a0011c0022t0005 a0016c0017t0005	a0011c0016t0005g0013 a0011c0016t0005g0030 a0011c0022t0005g0012 others(2): Show a0011c0016t0005g0013 a0011c0016t0005g0030 a0011c0022t0005g0012 a0016c0017t0005g0009 a0016c0017t0005g0010	5	355	0.0141	27	c.177 others(34): Show c.177_178insCCCCCAGCGCCCCCAGCGCCCCCAGCG	p.Ala others(38): Show p.Ala59_Ala60insProProAlaProProAlaProProAla	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	1/24	254/4443	178/3414	60/1137	INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80654905	G G	GCCGCAGC others(2): Show GCCGCAGCGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00597.hp1 HG00609.hp2 others(46): Show HG00099.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01358.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02293.hp2 HG02300.hp2 HG02683.hp2 HG02723.hp2 HG02738.hp2 HG03098.hp2 HG03209.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18946.hp1 NA18949.hp1 NA18953.hp2 NA18957.hp2 NA18959.hp2 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19009.hp1 NA19064.hp1 NA19065.hp2 NA19078.hp2 NA19088.hp2 NA20129.hp1 NA20905.hp1	a0002 a0025 a0002 a0025	a0002c0004 a0002c0007 a0002c0021 others(3): Show a0002c0004 a0002c0007 a0002c0021 a0002c0037 a0002c0038 a0025c0039	a0002c0004t0004 a0002c0004t0010 a0002c0004t0021 others(7): Show a0002c0004t0004 a0002c0004t0010 a0002c0004t0021 a0002c0004t0024 a0002c0007t0006 a0002c0007t0008 a0002c0021t0004 a0002c0037t0005 a0002c0038t0004 a0025c0039t0004	a0002c0004t0004g0001 a0002c0004t0004g0226 a0002c0004t0004g0230 others(45): Show a0002c0004t0004g0001 a0002c0004t0004g0226 a0002c0004t0004g0230 a0002c0004t0004g0231 a0002c0004t0004g0233 a0002c0004t0004g0234 a0002c0004t0004g0235 a0002c0004t0004g0238 a0002c0004t0004g0241 a0002c0004t0004g0247 a0002c0004t0004g0251 a0002c0004t0004g0252 a0002c0004t0004g0254 a0002c0004t0004g0255 a0002c0004t0004g0256 a0002c0004t0004g0257 a0002c0004t0004g0258 a0002c0004t0004g0259 a0002c0004t0004g0262 a0002c0004t0004g0264 a0002c0004t0004g0265 a0002c0004t0004g0266 a0002c0004t0004g0267 a0002c0004t0004g0268 a0002c0004t0004g0269 a0002c0004t0004g0270 a0002c0004t0004g0277 a0002c0004t0004g0278 a0002c0004t0004g0298 a0002c0004t0004g0303 a0002c0004t0004g0345 a0002c0004t0010g0249 a0002c0004t0021g0244 a0002c0004t0024g0248 a0002c0007t0006g0263 a0002c0007t0006g0310 a0002c0007t0008g0239 a0002c0007t0008g0253 a0002c0007t0008g0273 a0002c0007t0008g0288 a0002c0007t0008g0295 a0002c0007t0008g0296 a0002c0007t0008g0297 a0002c0021t0004g0242 a0002c0021t0004g0246 a0002c0037t0005g0272 a0002c0038t0004g0232 a0025c0039t0004g0260	49	344	0.1424	9	c.181 others(16): Show c.181_189dupGCAGCGCCC	p.Ala others(11): Show p.Ala61_Pro63dup	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	1/24	266/4443	190/3414	64/1137	INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80654905	G G	GCCGCAGC others(11): Show GCCGCAGCGCCCGCAGCGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18948.hp2 NA18962.hp2 NA18948.hp2 NA18962.hp2	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0004 a0017c0019t0004	a0017c0019t0004g0243 a0017c0019t0004g0271 a0017c0019t0004g0243 a0017c0019t0004g0271	2	297	0.0067	18	c.189 others(25): Show c.189_190insGCAGCGCCCGCAGCGCCC	p.Pro others(29): Show p.Pro63_Pro64insAlaAlaProAlaAlaPro	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	1/24	266/4443	190/3414	64/1137	INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80654905	G G	GCCGCAGC others(11): Show GCCGCAGCGGCCGCAGCGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00642.hp2 HG03942.hp2 HG00642.hp2 HG03942.hp2	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0004 a0015c0020t0004	a0015c0020t0004g0236 a0015c0020t0004g0237 a0015c0020t0004g0236 a0015c0020t0004g0237	2	297	0.0067	18	c.186 others(25): Show c.186_187insGCCGCAGCGCCCGCAGCG	p.Ala others(29): Show p.Ala62_Pro63insAlaAlaAlaProAlaAla	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	1/24	263/4443	187/3414	63/1137	INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80654908	G G	GCAGCGCC others(11): Show GCAGCGCCCGCAGCGCCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02148.hp1 HG02148.hp1	a0020 a0020	a0020c0036 a0020c0036	a0020c0036t0028 a0020c0036t0028	a0020c0036t0028g0245 a0020c0036t0028g0245	1	343	0.0029	18	c.189 others(25): Show c.189_190insGCAGCGCCCCCAGCGCCC	p.Pro others(29): Show p.Pro63_Pro64insAlaAlaProProAlaPro	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	1/24	266/4443	190/3414	64/1137	INFO_REALIGN_3_PRIME	chr5	TogoVar
MUC12_chr7_100964565_101023936	100991683	C C	CCTGAAAG others(3242): Show CCTGAAAGCAACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCA CAGCAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCC TTGTTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACA ACACACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAAC AGCATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTGCCC GCTCCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGT TCAGGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAGG CCTCAGTGAGAAATCTACCACTTTCCACAGTAGCCCCAGATCACCAGCCA CAACACTCTCACCTGCCAGCACGACAAGCTCAGGCGTCAGTGAAGAATCC ACCACCTCCCACAGCCGACCAGGCTCAACGCACACAACAGCATTCCCTGA CAGCACCACCACGCCAGGCCTCAGTCGGCATTCTACAACTTCCCACAGCA GCCCAGGCTCAACGGATACAACACTGTTACCTGCCAGCACCACCACCTCA GGCCCCAGTCAGGAATCAACAACTTCCCACAGCAGCCCAGGTTCAACTGA CACAGCACTGTCCCCTGGCAGTACCACAGCCTTATCCTTTGGTCAAGAAT CTACAACCTTCCACAGCAGCCCAGGCTCCACTCACACAACACTCTTCCCT GACAGCACCACAAGCTCAGGCATCGTTGAAGCATCTACACGCGTCCACAG CAGCACTGGCTCACCACGCACAACACTGTCCCCTGCCAGCTCCACAAGCC CTGGACTTCAGGGAGAATCTACCGCCTTCCAGACCCACCCAGCCTCAACT CACACGACGCCTTCACCTCCTAGCACCGCAACAGCCCCTGTTGAAGAATC TACAACCTACCACCGCAGCCCAGGCTCGACTCCAACAACACACTTCCCTG CCAGCTCCACAACTTCGGGCCACAGTGAGAAATCAACAATATTCCACAGC AGCCCAGATGCAAGTGGAACAACACCCTCATCTGCCCACTCCACAACCTC AGGTCGTGGAGAATCTACAACCTCACACATCAGTCCAGGCTCAACTGAAA TAACAACGTTACCTGGCAGTACCACAACACCAGGCCTCAGTGAGGCATCT ACCACCTTCTACAGCAGCCCCAGATCACCAACCACAACACTCTCACCTGC CAGCATGACAAGCCTAGGCGTCGGTGAAGAATCCACCACCTCCCGTAGCC AACCAGGTTCTACTCACTCAACAGTGTCACCTGCCAGCACCACCACGCCA GGCCTCAGTGAGGAATCTACCACCGTCTACAGCAGCAGCCCAGGCTCAAC TGAAACCACAGTGTTCCCTCGCAGCACCACAACCTCAGTTCGTGGTGAAG AGCCTACAACCTTCCACAGCCGGCCAGCCTCAACTCACACAACACTGTTC ACTGAGGACAGCACCACCTCGGGCCTCACTGAAGAATCTACAGCCTTCCC CGGCAGCCCAGCCTCCACCCAAACAGGGTTACCTGCCACACTCACAACCG CAGACCTCGGTGAGGAATCAACTACCTTTCCCAGCAGCTCAGGCTCAACT GGAACAACACTCTCACCTGCCCGCTCCACCACCTCTGGCCTCGTTGGAGA ATCCACACCCTCACGCCTCAGTCCAAGCTCAACCGAAACAACAACTTTAC CCGGCAGTCCCACAACACCAAGCCTCAGTGAGAAATCAACCACCTTCTAC ACTAGCCCCAGATCACCAGATGCAACACTCTCACCTGCAACCACAACAAG CTCAGGCGTCAGCGAAGAATCCAGCACATCCCACAGTCAACCAGGCTCAA CGCACACAACAGCGTTCCCTGACAGCACCACCACCTCAGGCCTCAGTCAG GAACCTACAACTTCCCACAGCAGCCAAGGCTCAACAGAGGCAACACTGTC CCCTGGCAGTACCACAGCCTCATCCCTTGGTCAACAATCTACAACCTTCC ACAGCAGCCCAGGCGACACTGAAACCACACTCTTACCTGACGACACCATA ACCTCAGGCCTCGTGGAGGCATCTACACCCACCCACAGCAGCACTGGCTC GCTACACACAACACTGACCCCTGCCAGCTCCACAAGCGCTGGCCTTCAGG AAGAATCTACCACTTTCCAGAGCTGGCCAAGCTCAAGTGACACAACACCT TCACCTCCCGGCACCACAGCAGCCCCTGTTGAAGTATCCACAACCTACCA CAGCCGCCCGAGCTCAACTCCAACAACACACTTTTCTGCCAGTTCCACAA CCTTGGGCCGTAGTGAGGAATCAACAACAGTCCACAGCAGCCCAGGTGCA ACTGGAACAGCACTCTTCCCTACCCGCTCTGCAACCTCAGTTCTTGTTGG AGAACCTACAACGTCACCCATCAGTTCAGGCTCAACGGAAACAACAGCGT TACCTGGCAGTACCACAACAGCAGGCCTGAGTGAGAAATCTACCACCTTC TACAGTAGCCCCAGATCACCGGACACAACACTCTCACCTGCCAGCACGAC AAGCTCAGGCGTCAGTGAAGAATCCACCACCTCCCACAGCCGACCAGGCT CAACGCACACAACAGCATTCCCTGGCAGTACCACCATGCCAGGCGTCAGT CAGGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAACACT GTCCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACTACCT TCCACAGCGGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAACACC ACAGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCACTGG ATCGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAGGGAG AATCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCCTGCA CCTCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCCACGG CAGCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACAACCT TGGGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGCAACT GCAACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGA ATCTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCACTTCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA20905.hp2 NA20905.hp2	a0141 a0141	a0141c0233 a0141c0233	a0141c0233t0001 a0141c0233t0001	a0141c0233t0001g0107 a0141c0233t0001g0107	1	192	0.0052	3249	c.112 others(3258): Show c.1128_1129insAACACAACTTCAGGCCGTGGTGAAGAATCAACAACT TCCCACAGCAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATC TGCCCTTGTTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTG CAACAACACACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAA TCAACAGCATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACC TGCCCGCTCCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCA TCAGTTCAGGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACG CCAGGCCTCAGTGAGAAATCTACCACTTTCCACAGTAGCCCCAGATCACC AGCCACAACACTCTCACCTGCCAGCACGACAAGCTCAGGCGTCAGTGAAG AATCCACCACCTCCCACAGCCGACCAGGCTCAACGCACACAACAGCATTC CCTGACAGCACCACCACGCCAGGCCTCAGTCGGCATTCTACAACTTCCCA CAGCAGCCCAGGCTCAACGGATACAACACTGTTACCTGCCAGCACCACCA CCTCAGGCCCCAGTCAGGAATCAACAACTTCCCACAGCAGCCCAGGTTCA ACTGACACAGCACTGTCCCCTGGCAGTACCACAGCCTTATCCTTTGGTCA AGAATCTACAACCTTCCACAGCAGCCCAGGCTCCACTCACACAACACTCT TCCCTGACAGCACCACAAGCTCAGGCATCGTTGAAGCATCTACACGCGTC CACAGCAGCACTGGCTCACCACGCACAACACTGTCCCCTGCCAGCTCCAC AAGCCCTGGACTTCAGGGAGAATCTACCGCCTTCCAGACCCACCCAGCCT CAACTCACACGACGCCTTCACCTCCTAGCACCGCAACAGCCCCTGTTGAA GAATCTACAACCTACCACCGCAGCCCAGGCTCGACTCCAACAACACACTT CCCTGCCAGCTCCACAACTTCGGGCCACAGTGAGAAATCAACAATATTCC ACAGCAGCCCAGATGCAAGTGGAACAACACCCTCATCTGCCCACTCCACA ACCTCAGGTCGTGGAGAATCTACAACCTCACACATCAGTCCAGGCTCAAC TGAAATAACAACGTTACCTGGCAGTACCACAACACCAGGCCTCAGTGAGG CATCTACCACCTTCTACAGCAGCCCCAGATCACCAACCACAACACTCTCA CCTGCCAGCATGACAAGCCTAGGCGTCGGTGAAGAATCCACCACCTCCCG TAGCCAACCAGGTTCTACTCACTCAACAGTGTCACCTGCCAGCACCACCA CGCCAGGCCTCAGTGAGGAATCTACCACCGTCTACAGCAGCAGCCCAGGC TCAACTGAAACCACAGTGTTCCCTCGCAGCACCACAACCTCAGTTCGTGG TGAAGAGCCTACAACCTTCCACAGCCGGCCAGCCTCAACTCACACAACAC TGTTCACTGAGGACAGCACCACCTCGGGCCTCACTGAAGAATCTACAGCC TTCCCCGGCAGCCCAGCCTCCACCCAAACAGGGTTACCTGCCACACTCAC AACCGCAGACCTCGGTGAGGAATCAACTACCTTTCCCAGCAGCTCAGGCT CAACTGGAACAACACTCTCACCTGCCCGCTCCACCACCTCTGGCCTCGTT GGAGAATCCACACCCTCACGCCTCAGTCCAAGCTCAACCGAAACAACAAC TTTACCCGGCAGTCCCACAACACCAAGCCTCAGTGAGAAATCAACCACCT TCTACACTAGCCCCAGATCACCAGATGCAACACTCTCACCTGCAACCACA ACAAGCTCAGGCGTCAGCGAAGAATCCAGCACATCCCACAGTCAACCAGG CTCAACGCACACAACAGCGTTCCCTGACAGCACCACCACCTCAGGCCTCA GTCAGGAACCTACAACTTCCCACAGCAGCCAAGGCTCAACAGAGGCAACA CTGTCCCCTGGCAGTACCACAGCCTCATCCCTTGGTCAACAATCTACAAC CTTCCACAGCAGCCCAGGCGACACTGAAACCACACTCTTACCTGACGACA CCATAACCTCAGGCCTCGTGGAGGCATCTACACCCACCCACAGCAGCACT GGCTCGCTACACACAACACTGACCCCTGCCAGCTCCACAAGCGCTGGCCT TCAGGAAGAATCTACCACTTTCCAGAGCTGGCCAAGCTCAAGTGACACAA CACCTTCACCTCCCGGCACCACAGCAGCCCCTGTTGAAGTATCCACAACC TACCACAGCCGCCCGAGCTCAACTCCAACAACACACTTTTCTGCCAGTTC CACAACCTTGGGCCGTAGTGAGGAATCAACAACAGTCCACAGCAGCCCAG GTGCAACTGGAACAGCACTCTTCCCTACCCGCTCTGCAACCTCAGTTCTT GTTGGAGAACCTACAACGTCACCCATCAGTTCAGGCTCAACGGAAACAAC AGCGTTACCTGGCAGTACCACAACAGCAGGCCTGAGTGAGAAATCTACCA CCTTCTACAGTAGCCCCAGATCACCGGACACAACACTCTCACCTGCCAGC ACGACAAGCTCAGGCGTCAGTGAAGAATCCACCACCTCCCACAGCCGACC AGGCTCAACGCACACAACAGCATTCCCTGGCAGTACCACCATGCCAGGCG TCAGTCAGGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACA ACACTGTCCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTAC TACCTTCCACAGCGGCCCAGGCTCCACTGAAACAACACTCTTACCTGACA ACACCACAGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGC ACTGGATCGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCA GGGAGAATCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCC CTGCACCTCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCC CACGGCAGCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCAC AACCTTGGGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTG CAACTGCAACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTT GAAGAATCTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCA CTTCACTGAAAGC	p.Ser others(3262): Show p.Ser376_Ser377insAsnThrThrSerGlyArgGlyGluGluSerTh rThrSerHisSerSerThrThrHisThrIleSerSerAlaProSerThrT hrSerAlaLeuValGluGluProThrSerTyrHisSerSerProGlySer ThrAlaThrThrHisPheProAspSerSerThrThrSerGlyArgSerGl uGluSerThrAlaSerHisSerSerGlnGluThrThrGlyThrIleValL euProAlaArgSerThrIleSerValLeuLeuGlyGluSerThrThrSer ProIleSerSerGlySerMetGluThrThrAlaLeuProGlySerThrTh rThrProGlyLeuSerGluLysSerThrThrPheHisSerSerProArgS erProAlaThrThrLeuSerProAlaSerThrThrSerSerGlyValSer GluGluSerThrThrSerHisSerArgProGlySerThrHisThrThrAl aPheProAspSerThrThrThrProGlyLeuSerArgHisSerThrThrS erHisSerSerProGlySerThrAspThrThrLeuLeuProAlaSerThr ThrThrSerGlyProSerGlnGluSerThrThrSerHisSerSerProGl ySerThrAspThrAlaLeuSerProGlySerThrThrAlaLeuSerPheG lyGlnGluSerThrThrPheHisSerSerProGlySerThrHisThrThr LeuPheProAspSerThrThrSerSerGlyIleValGluAlaSerThrAr gValHisSerSerThrGlySerProArgThrThrLeuSerProAlaSerS erThrSerProGlyLeuGlnGlyGluSerThrAlaPheGlnThrHisPro AlaSerThrHisThrThrProSerProProSerThrAlaThrAlaProVa lGluGluSerThrThrTyrHisArgSerProGlySerThrProThrThrH isPheProAlaSerSerThrThrSerGlyHisSerGluLysSerThrIle PheHisSerSerProAspAlaSerGlyThrThrProSerSerAlaHisSe rThrThrSerGlyArgGlyGluSerThrThrSerHisIleSerProGlyS erThrGluIleThrThrLeuProGlySerThrThrThrProGlyLeuSer GluAlaSerThrThrPheTyrSerSerProArgSerProThrThrThrLe uSerProAlaSerMetThrSerLeuGlyValGlyGluGluSerThrThrS erArgSerGlnProGlySerThrHisSerThrValSerProAlaSerThr ThrThrProGlyLeuSerGluGluSerThrThrValTyrSerSerSerPr oGlySerThrGluThrThrValPheProArgSerThrThrThrSerValA rgGlyGluGluProThrThrPheHisSerArgProAlaSerThrHisThr ThrLeuPheThrGluAspSerThrThrSerGlyLeuThrGluGluSerTh rAlaPheProGlySerProAlaSerThrGlnThrGlyLeuProAlaThrL euThrThrAlaAspLeuGlyGluGluSerThrThrPheProSerSerSer GlySerThrGlyThrThrLeuSerProAlaArgSerThrThrSerGlyLe uValGlyGluSerThrProSerArgLeuSerProSerSerThrGluThrT hrThrLeuProGlySerProThrThrProSerLeuSerGluLysSerThr ThrPheTyrThrSerProArgSerProAspAlaThrLeuSerProAlaTh rThrThrSerSerGlyValSerGluGluSerSerThrSerHisSerGlnP roGlySerThrHisThrThrAlaPheProAspSerThrThrThrSerGly LeuSerGlnGluProThrThrSerHisSerSerGlnGlySerThrGluAl aThrLeuSerProGlySerThrThrAlaSerSerLeuGlyGlnGlnSerT hrThrPheHisSerSerProGlyAspThrGluThrThrLeuLeuProAsp AspThrIleThrSerGlyLeuValGluAlaSerThrProThrHisSerSe rThrGlySerLeuHisThrThrLeuThrProAlaSerSerThrSerAlaG lyLeuGlnGluGluSerThrThrPheGlnSerTrpProSerSerSerAsp ThrThrProSerProProGlyThrThrAlaAlaProValGluValSerTh rThrTyrHisSerArgProSerSerThrProThrThrHisPheSerAlaS erSerThrThrLeuGlyArgSerGluGluSerThrThrValHisSerSer ProGlyAlaThrGlyThrAlaLeuPheProThrArgSerAlaThrSerVa lLeuValGlyGluProThrThrSerProIleSerSerGlySerThrGluT hrThrAlaLeuProGlySerThrThrThrAlaGlyLeuSerGluLysSer ThrThrPheTyrSerSerProArgSerProAspThrThrLeuSerProAl aSerThrThrSerSerGlyValSerGluGluSerThrThrSerHisSerA rgProGlySerThrHisThrThrAlaPheProGlySerThrThrMetPro GlyValSerGlnGluSerThrAlaSerHisSerSerProGlySerThrAs pThrThrLeuSerProGlySerThrThrAlaSerSerLeuGlyProGluS erThrThrPheHisSerGlyProGlySerThrGluThrThrLeuLeuPro AspAsnThrThrAlaSerGlyLeuLeuGluAlaSerThrProValHisSe rSerThrGlySerProHisThrThrLeuSerProAlaGlySerThrThrA rgGlnGlyGluSerThrThrPheGlnSerTrpProAsnSerLysAspThr ThrProAlaProProThrThrThrSerAlaPheValGluLeuSerThrTh rSerHisGlySerProSerSerThrProThrThrHisPheSerAlaSerS erThrThrLeuGlyArgSerGluGluSerThrThrValHisSerSerPro ValAlaThrAlaThrThrProSerProAlaArgSerThrThrSerGlyLe uValGluGluSerThrThrTyrHisSerSerProGlySerThrGlnThrM etHisPheThrGluSer	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	1187/16366	1129/16008	377/5335	INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC12_chr7_100964565_101023936	100993044	T T	TAGTAGCC others(1067): Show TAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCACGACAA GCTCAGGCATCAGTGAAGAATCCACCACCTCCCACAGCCGACCAGGCTCA ACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGTCAGTCA GGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAACACTGT CCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACTACCTTC CACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAACACCAC AGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCACTGGAT CGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAGGGAGAA TCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCCTGCACC TCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCCACGGCA GCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACAACCTTG GGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGCAACTGC AACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGAAT CTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCACTTCCCT GAAAGCAACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCACAG CAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCCTTG TTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACAACA CACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAACAGC ATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTGCCCGCT CCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGTTCA GGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAGGCCT CAGTGAGAAATCTACCACTTTCCAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA20905.hp2 NA20905.hp2	a0141 a0141	a0141c0233 a0141c0233	a0141c0233t0001 a0141c0233t0001	a0141c0233t0001g0107 a0141c0233t0001g0107	1	175	0.0057	1074	c.253 others(1083): Show c.2538_2539insATCAGTGAAGAATCCACCACCTCCCACAGCCGACCA GGCTCAACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGT CAGTCAGGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAA CACTGTCCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACT ACCTTCCACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAA CACCACAGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCA CTGGATCGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAG GGAGAATCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCC TGCACCTCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCC ACGGCAGCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACA ACCTTGGGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGC AACTGCAACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTG AAGAATCTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCAC TTCCCTGAAAGCAACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTC CCACAGCAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTG CCCTTGTTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCA ACAACACACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATC AACAGCATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTG CCCGCTCCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATC AGTTCAGGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCC AGGCCTCAGTGAGAAATCTACCACTTTCCACAGTAGCCCCAGATCACCAG CCACAACACTCTCACCTGCCAGCACGACAAGCTCAGGC	p.Gly others(1087): Show p.Gly846_Val847insIleSerGluGluSerThrThrSerHisSerAr gProGlySerThrHisThrThrAlaPheProSerSerThrThrMetProG lyValSerGlnGluSerThrAlaSerHisSerSerProGlySerThrAsp ThrThrLeuSerProGlySerThrThrAlaSerSerLeuGlyProGluSe rThrThrPheHisSerSerProGlySerThrGluThrThrLeuLeuProA spAsnThrThrAlaSerGlyLeuLeuGluAlaSerThrProValHisSer SerThrGlySerProHisThrThrLeuSerProAlaGlySerThrThrAr gGlnGlyGluSerThrThrPheGlnSerTrpProAsnSerLysAspThrT hrProAlaProProThrThrThrSerAlaPheValGluLeuSerThrThr SerHisGlySerProSerSerThrProThrThrHisPheSerAlaSerSe rThrThrLeuGlyArgSerGluGluSerThrThrValHisSerSerProV alAlaThrAlaThrThrProSerProAlaArgSerThrThrSerGlyLeu ValGluGluSerThrThrTyrHisSerSerProGlySerThrGlnThrMe tHisPheProGluSerAsnThrThrSerGlyArgGlyGluGluSerThrT hrSerHisSerSerThrThrHisThrIleSerSerAlaProSerThrThr SerAlaLeuValGluGluProThrSerTyrHisSerSerProGlySerTh rAlaThrThrHisPheProAspSerSerThrThrSerGlyArgSerGluG luSerThrAlaSerHisSerSerGlnGluThrThrGlyThrIleValLeu ProAlaArgSerThrIleSerValLeuLeuGlyGluSerThrThrSerPr oIleSerSerGlySerMetGluThrThrAlaLeuProGlySerThrThrT hrProGlyLeuSerGluLysSerThrThrPheHisSerSerProArgSer ProAlaThrThrLeuSerProAlaSerThrThrSerSerGly	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	2597/16366	2539/16008	847/5335	INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC12_chr7_100964565_101023936	100993044	T T	TAGTAGCC others(1067): Show TAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCACGACAA GCTCAGGCATCAGTGAAGAATCCACCACCTCCCACAGCCGACCAGGCTCA ACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGTCAGTCA GGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAACACTGT CCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACTACCTTC CACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAACACCAC AGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCACTGGAT CGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAGGGAGAA TCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCCTGCACC TCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCCACGGCA GCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACAACCTTG GGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGCAACTGC AACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGAAT CTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCACTTCCCT GAAAGCGACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCACAG CAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCCTTG TTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACAACA CACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAACAGC ATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTGCCCGCT CCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGTTCA GGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAGGCCT CAGTGAGAAATCTACCACTTTCCAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19081.hp1 NA19081.hp1	a0135 a0135	a0135c0232 a0135c0232	a0135c0232t0001 a0135c0232t0001	a0135c0232t0001g0204 a0135c0232t0001g0204	1	175	0.0057	1074	c.253 others(1083): Show c.2538_2539insATCAGTGAAGAATCCACCACCTCCCACAGCCGACCA GGCTCAACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGT CAGTCAGGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAA CACTGTCCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACT ACCTTCCACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAA CACCACAGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCA CTGGATCGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAG GGAGAATCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCC TGCACCTCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCC ACGGCAGCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACA ACCTTGGGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGC AACTGCAACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTG AAGAATCTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCAC TTCCCTGAAAGCGACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTC CCACAGCAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTG CCCTTGTTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCA ACAACACACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATC AACAGCATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTG CCCGCTCCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATC AGTTCAGGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCC AGGCCTCAGTGAGAAATCTACCACTTTCCACAGTAGCCCCAGATCACCAG CCACAACACTCTCACCTGCCAGCACGACAAGCTCAGGC	p.Gly others(1087): Show p.Gly846_Val847insIleSerGluGluSerThrThrSerHisSerAr gProGlySerThrHisThrThrAlaPheProSerSerThrThrMetProG lyValSerGlnGluSerThrAlaSerHisSerSerProGlySerThrAsp ThrThrLeuSerProGlySerThrThrAlaSerSerLeuGlyProGluSe rThrThrPheHisSerSerProGlySerThrGluThrThrLeuLeuProA spAsnThrThrAlaSerGlyLeuLeuGluAlaSerThrProValHisSer SerThrGlySerProHisThrThrLeuSerProAlaGlySerThrThrAr gGlnGlyGluSerThrThrPheGlnSerTrpProAsnSerLysAspThrT hrProAlaProProThrThrThrSerAlaPheValGluLeuSerThrThr SerHisGlySerProSerSerThrProThrThrHisPheSerAlaSerSe rThrThrLeuGlyArgSerGluGluSerThrThrValHisSerSerProV alAlaThrAlaThrThrProSerProAlaArgSerThrThrSerGlyLeu ValGluGluSerThrThrTyrHisSerSerProGlySerThrGlnThrMe tHisPheProGluSerAspThrThrSerGlyArgGlyGluGluSerThrT hrSerHisSerSerThrThrHisThrIleSerSerAlaProSerThrThr SerAlaLeuValGluGluProThrSerTyrHisSerSerProGlySerTh rAlaThrThrHisPheProAspSerSerThrThrSerGlyArgSerGluG luSerThrAlaSerHisSerSerGlnGluThrThrGlyThrIleValLeu ProAlaArgSerThrIleSerValLeuLeuGlyGluSerThrThrSerPr oIleSerSerGlySerMetGluThrThrAlaLeuProGlySerThrThrT hrProGlyLeuSerGluLysSerThrThrPheHisSerSerProArgSer ProAlaThrThrLeuSerProAlaSerThrThrSerSerGly	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	2597/16366	2539/16008	847/5335	INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC12_chr7_100964565_101023936	100995239	A A	ACACAACA others(2051): Show ACACAACACTCTCACCTGCCAGCACGACAAGCTCAGGCGTCAGTGAAGAA TCCACCACCTCCCACAGCCGACCAGGCTCAACGCACACAACAGCATTCCC TGGCAGTACCACCATGCCAGGCGTCAGTCAGGAATCTACAGCTTCCCACA GCAGCCCAGGCTCCACAGACACAACACTGTCCCCTGGCAGTACCACAGCA TCATCCCTTGGTCCAGAATCTACTACCTTCCACAGCGGCCCAGGCTCCAC TGAAACAACACTCTTACCTGACAACACCACAGCCTCAGGCCTCCTTGAAG CATCTACGCCCGTCCACAGCAGCACTGGATCGCCACACACAACACTGTCC CCTGCCGGCTCTACAACCCGTCAGGGAGAATCTACCACCTTCCAGAGCTG GCCAAACTCGAAGGACACTACCCCTGCACCTCCTACTACCACATCAGCCT TTGTTGAGCTATCTACAACCTCCCACGGCAGCCCGAGCTCAACTCCAACA ACCCACTTTTCTGCCAGCTCCACAACCTTGGGCCGTAGTGAGGAATCGAC AACAGTCCACAGCAGCCCAGTTGCAACTGCAACAACACCCTCGCCTGCCC GCTCCACAACCTCAGGCCTCGTTGAAGAATCTACGACCTACCACAGCAGC CCGGGCTCAACTCAAACAATGCACTTCACTGAAAGCTCCACAACTTCAGG CCATAGTGAAGAATCAGCAACTTTCCACGGCAGCACAACACACACAAAAT CTTCAACTCCTAGCACCACAGCTGCCCTAGCACATACAAGCTACCACAGC AGCCTGGGCTCAACTGAAACAACACACTTCCGTGATAGCTCCACAATCTC AGGCCGTAGTGAGGAATCAAAAGCATCCCACAGCAGCCCAGATGCAATGG CAACAACAGTCTTACCTGCCGGCTCTACACCCTCAGTTCTTGTTGGAGAC TCGACGCCCTCACCCATCAGTTCAGGCTCAATGGAAACCACAGCGTTACC CGGCAGTACCACAAAACCAGGCCTCAGTGAGAAATCTACCACTTTCTACA GTAGCCCCAGATCACCAGACACAACACACTTACCTGCCCGCATGACAAGC TCAGGCGTCAGTGAAGAATCCACCACCTCCCACAGCCGACCAGGCTCAAC ACACACAACAGCATTCCCTGGCAGTACCACCATGCCAGGCCTCAGTCAGG AATCTACAGCTTCCCACAGCAGCCCAGGCCCCACAGACACAACATTGTCC CCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATATACTACCTTCCA CAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAACACCACAG CCTCAGGACTCCTTGAAGCATCTACGCCCGTCCACAGCAGCAGCAGATCG CCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAGGGAGAATC TACCACATTCCATAGCTGGCCAAGCTCAAAGGACACTAGGCCTGCACCTC CTACTACCACATCAGCCTTTGTTGAGCCATCTACAACCTCCCACGGCAGC CCGAGCTCAATTCCAACAACCCACATTTCTGCCCGCTCCACAACCTCAGG CCTCGTTGAAGAATCTACGACCTACCACAGCAGCCCGGGCTCAACTCAAA CAATGCACTTCCCTGAAAGCGACACAACTTCAGGCCGTGGTGAAGAATCA ACAACTTCCCACAGCAGCACAACACACACAATATCTTCAGCTCCTAGCAC CACATCTGCCCTTGTTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCT CAACTGCAACAACACACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGT GAGGAATCAACAGCATCGCACAGCAGCCAAGACGCAACGGGAACAATAGT CCTACCTGCCCGCTCCACAACCTCAGTTCTTCTTGGAGAATCTACGACCT CACCCATCAGTTCAGGCTCAATGGAAACGACAGCGTTACCCGGCAGTACC ACAACGCCAGGCCTCAGTGAGAGATCTACCACTTTCCATAGTAGCCCCAG ATCACCAGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02148.hp1 NA18989.hp1 HG02148.hp1 NA18989.hp1	a0002 a0126 a0002 a0126	a0002c0136 a0126c0110 a0002c0136 a0126c0110	a0002c0136t0001 a0126c0110t0001 a0002c0136t0001 a0126c0110t0001	a0002c0136t0001g0226 a0126c0110t0001g0182 a0002c0136t0001g0226 a0126c0110t0001g0182	2	340	0.0059	2058	c.485 others(2067): Show c.4851_4852insCTGTCCCCTGGCAGTACCACAGCATCATCCCTTGGT CCAGAATCTACTACCTTCCACAGCGGCCCAGGCTCCACTGAAACAACACT CTTACCTGACAACACCACAGCCTCAGGCCTCCTTGAAGCATCTACGCCCG TCCACAGCAGCACTGGATCGCCACACACAACACTGTCCCCTGCCGGCTCT ACAACCCGTCAGGGAGAATCTACCACCTTCCAGAGCTGGCCAAACTCGAA GGACACTACCCCTGCACCTCCTACTACCACATCAGCCTTTGTTGAGCTAT CTACAACCTCCCACGGCAGCCCGAGCTCAACTCCAACAACCCACTTTTCT GCCAGCTCCACAACCTTGGGCCGTAGTGAGGAATCGACAACAGTCCACAG CAGCCCAGTTGCAACTGCAACAACACCCTCGCCTGCCCGCTCCACAACCT CAGGCCTCGTTGAAGAATCTACGACCTACCACAGCAGCCCGGGCTCAACT CAAACAATGCACTTCACTGAAAGCTCCACAACTTCAGGCCATAGTGAAGA ATCAGCAACTTTCCACGGCAGCACAACACACACAAAATCTTCAACTCCTA GCACCACAGCTGCCCTAGCACATACAAGCTACCACAGCAGCCTGGGCTCA ACTGAAACAACACACTTCCGTGATAGCTCCACAATCTCAGGCCGTAGTGA GGAATCAAAAGCATCCCACAGCAGCCCAGATGCAATGGCAACAACAGTCT TACCTGCCGGCTCTACACCCTCAGTTCTTGTTGGAGACTCGACGCCCTCA CCCATCAGTTCAGGCTCAATGGAAACCACAGCGTTACCCGGCAGTACCAC AAAACCAGGCCTCAGTGAGAAATCTACCACTTTCTACAGTAGCCCCAGAT CACCAGACACAACACACTTACCTGCCCGCATGACAAGCTCAGGCGTCAGT GAAGAATCCACCACCTCCCACAGCCGACCAGGCTCAACACACACAACAGC ATTCCCTGGCAGTACCACCATGCCAGGCCTCAGTCAGGAATCTACAGCTT CCCACAGCAGCCCAGGCCCCACAGACACAACATTGTCCCCTGGCAGTACC ACAGCATCATCCCTTGGTCCAGAATATACTACCTTCCACAGCAGCCCAGG CTCCACTGAAACAACACTCTTACCTGACAACACCACAGCCTCAGGACTCC TTGAAGCATCTACGCCCGTCCACAGCAGCAGCAGATCGCCACACACAACA CTGTCCCCTGCCGGCTCTACAACCCGTCAGGGAGAATCTACCACATTCCA TAGCTGGCCAAGCTCAAAGGACACTAGGCCTGCACCTCCTACTACCACAT CAGCCTTTGTTGAGCCATCTACAACCTCCCACGGCAGCCCGAGCTCAATT CCAACAACCCACATTTCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGA ATCTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCACTTCC CTGAAAGCGACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCAC AGCAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCCT TGTTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACAA CACACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAACA GCATCGCACAGCAGCCAAGACGCAACGGGAACAATAGTCCTACCTGCCCG CTCCACAACCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGTT CAGGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAGGC CTCAGTGAGAGATCTACCACTTTCCATAGTAGCCCCAGATCACCAGCCAC AACACTCTCACCTGCCAGCACGACAAGCTCAGGCGTCAGTGAAGAATCCA CCACCTCCCACAGCCGACCAGGCTCAACGCACACAACAGCATTCCCTGGC AGTACCACCATGCCAGGCGTCAGTCAGGAATCTACAGCTTCCCACAGCAG CCCAGGCTCCACAGACACAACA	p.Leu others(2073): Show p.Leu1618_Ser1619insSerProGlySerThrThrAlaSerSerLeu GlyProGluSerThrThrPheHisSerGlyProGlySerThrGluThrTh rLeuLeuProAspAsnThrThrAlaSerGlyLeuLeuGluAlaSerThrP roValHisSerSerThrGlySerProHisThrThrLeuSerProAlaGly SerThrThrArgGlnGlyGluSerThrThrPheGlnSerTrpProAsnSe rLysAspThrThrProAlaProProThrThrThrSerAlaPheValGluL euSerThrThrSerHisGlySerProSerSerThrProThrThrHisPhe SerAlaSerSerThrThrLeuGlyArgSerGluGluSerThrThrValHi sSerSerProValAlaThrAlaThrThrProSerProAlaArgSerThrT hrSerGlyLeuValGluGluSerThrThrTyrHisSerSerProGlySer ThrGlnThrMetHisPheThrGluSerSerThrThrSerGlyHisSerGl uGluSerAlaThrPheHisGlySerThrThrHisThrLysSerSerThrP roSerThrThrAlaAlaLeuAlaHisThrSerTyrHisSerSerLeuGly SerThrGluThrThrHisPheArgAspSerSerThrIleSerGlyArgSe rGluGluSerLysAlaSerHisSerSerProAspAlaMetAlaThrThrV alLeuProAlaGlySerThrProSerValLeuValGlyAspSerThrPro SerProIleSerSerGlySerMetGluThrThrAlaLeuProGlySerTh rThrLysProGlyLeuSerGluLysSerThrThrPheTyrSerSerProA rgSerProAspThrThrHisLeuProAlaArgMetThrSerSerGlyVal SerGluGluSerThrThrSerHisSerArgProGlySerThrHisThrTh rAlaPheProGlySerThrThrMetProGlyLeuSerGlnGluSerThrA laSerHisSerSerProGlyProThrAspThrThrLeuSerProGlySer ThrThrAlaSerSerLeuGlyProGluTyrThrThrPheHisSerSerPr oGlySerThrGluThrThrLeuLeuProAspAsnThrThrAlaSerGlyL euLeuGluAlaSerThrProValHisSerSerSerArgSerProHisThr ThrLeuSerProAlaGlySerThrThrArgGlnGlyGluSerThrThrPh eHisSerTrpProSerSerLysAspThrArgProAlaProProThrThrT hrSerAlaPheValGluProSerThrThrSerHisGlySerProSerSer IleProThrThrHisIleSerAlaArgSerThrThrSerGlyLeuValGl uGluSerThrThrTyrHisSerSerProGlySerThrGlnThrMetHisP heProGluSerAspThrThrSerGlyArgGlyGluGluSerThrThrSer HisSerSerThrThrHisThrIleSerSerAlaProSerThrThrSerAl aLeuValGluGluProThrSerTyrHisSerSerProGlySerThrAlaT hrThrHisPheProAspSerSerThrThrSerGlyArgSerGluGluSer ThrAlaSerHisSerSerGlnAspAlaThrGlyThrIleValLeuProAl aArgSerThrThrSerValLeuLeuGlyGluSerThrThrSerProIleS erSerGlySerMetGluThrThrAlaLeuProGlySerThrThrThrPro GlyLeuSerGluArgSerThrThrPheHisSerSerProArgSerProAl aThrThrLeuSerProAlaSerThrThrSerSerGlyValSerGluGluS erThrThrSerHisSerArgProGlySerThrHisThrThrAlaPhePro GlySerThrThrMetProGlyValSerGlnGluSerThrAlaSerHisSe rSerProGlySerThrAspThrThrLeu	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	4910/16366	4852/16008	1618/5335	INFO_REALIGN_3_PRIME	chr7	TogoVar

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