JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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	141905995	A A	ACTCCAGA others(833): Show ACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTT TCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAG TCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAG TCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC CCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTA TTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCA CTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTT GAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTC CTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTA CTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCC TCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCA GAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCC GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGA ACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGT GAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTG AGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02109.hp2 HG02109.hp2	a0107 a0107	a0107c0192 a0107c0192	a0107c0192t0001 a0107c0192t0001	a0107c0192t0001g0002 a0107c0192t0001g0002	1	359	0.0028	840	c.661 others(847): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCA GTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGA GTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTT GCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTT AGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGG GTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCC ACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTT TGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCGCTCCTTCT CCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGT ACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTC CTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTC AGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGC CGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAG AA	p.Arg others(853): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heAlaGlnSerProLeuGlnIleProValSerProSerSerSerSerThr LeuLeuSerLeuPheGlnSerPheSerGluArgThrGlnSerThrPheGl uGlyPheAlaGlnSerSerLeuGlnIleProValSerProSerPheSerS erThrLeuValSerIlePheGlnSerSerProGluArgThrGlnSerThr PheGluGlyPheProGlnSerProLeuGlnIleProValSerSerSerSe rSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArgThrGlnS erThrPheGluGlyPheAlaGlnSerSerLeuGlnIleProValSerArg SerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArgTh rGlnSerThrPheGluGlyPheAlaGlnSerProLeuGlnIleProValS erProSerSerSerSerThrLeuLeuSerLeuPheGlnSerPheSerGlu ArgThrGlnSerThrPheGluGlyPheAlaGlnSerSerLeuGlnIlePr oValSerArgSerPheSerSerThrLeuLeuSerIlePheGlnSerSerP roGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906015	G G	GCTCCTTC others(203): Show GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGA AGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGT GAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTG AGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATT CCTGTGAGCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00423.hp1 HG00544.hp2 HG00597.hp2 others(5): Show HG00423.hp1 HG00544.hp2 HG00597.hp2 HG02015.hp1 HG02040.hp1 HG02148.hp2 NA18961.hp1 NA19011.hp1	a0007 a0081 a0007 a0081	a0007c0006 a0081c0110 a0007c0006 a0081c0110	a0007c0006t0001 a0081c0110t0001 a0007c0006t0001 a0081c0110t0001	a0007c0006t0001g0001 a0081c0110t0001g0001 a0007c0006t0001g0001 a0081c0110t0001g0001	8	359	0.0223	210	c.661 others(217): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAA	p.Arg others(223): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerProSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906015	G G	GCTCCTTC others(203): Show GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGA AGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTTCTCTCCAGATTCCTGT GAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTG AGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATT CCTGTGAGCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18946.hp2 NA18946.hp2	a0152 a0152	a0152c0176 a0152c0176	a0152c0176t0001 a0152c0176t0001	a0152c0176t0001g0001 a0152c0176t0001g0001	1	359	0.0028	210	c.661 others(217): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTTCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAA	p.Arg others(223): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rSerLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerProSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906021	T T	TCTCCTCC others(203): Show TCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAG AGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTC CTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAA CTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTG AGCCGCTCCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03471.hp1 HG03471.hp1	a0150 a0150	a0150c0111 a0150c0111	a0150c0111t0001 a0150c0111t0001	a0150c0111t0001g0001 a0150c0111t0001g0001	1	359	0.0028	210	c.661 others(217): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTCCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAA	p.Arg others(223): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerSerSerSerThrLeuLe uSerIlePheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906035	T T	TTGAGTAT others(518): Show TTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGG TTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCA CTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTT GAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTC CTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTA CTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCC TTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCA GAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCC GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGA ACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGT GAGCCCCTCCTTCTCCTCCACTTTAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp1 HG01123.hp1 HG01109.hp1 HG01123.hp1	a0050 a0050	a0050c0043 a0050c0043	a0050c0043t0002 a0050c0043t0002	a0050c0043t0002g0002 a0050c0043t0002g0002	2	359	0.0056	525	c.661 others(532): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCA GTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGA GTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTT CCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTT ATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGG GTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCC ACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAA	p.Arg others(538): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heProGlnSerProLeuGlnIleProValSerArgSerPheSerSerThr LeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGl uGlyPheProGlnSerProLeuGlnIleProValSerArgSerPheSerS erThrLeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerThr PheGluGlyPheAlaGlnSerProLeuGlnIleProValSerProSerPh eSerSerThrLeuValSerIlePheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906035	T T	TTGAGTAT others(413): Show TTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGG TTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCA CTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTT GAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTC CTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTA CTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCC TTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCA GAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCC CCTCCTTCTCCTCCACTTTAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02109.hp1 HG03041.hp1 HG02109.hp1 HG03041.hp1	a0049 a0049	a0049c0044 a0049c0044	a0049c0044t0002 a0049c0044t0002	a0049c0044t0002g0002 a0049c0044t0002g0002	2	359	0.0056	420	c.661 others(427): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCA GTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGA GTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTT GCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTT AGTGAGTATTTTCCAGAGTTCCCCTGAGAGAA	p.Arg others(433): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heProGlnSerProLeuGlnIleProValSerArgSerPheSerSerThr LeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGl uGlyPheAlaGlnSerProLeuGlnIleProValSerProSerPheSerS erThrLeuValSerIlePheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906041	A A	ATTTTCCA others(98): Show ATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGC ACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTAC TGAGTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp1 HG00408.hp2 HG00438.hp1 others(35): Show HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp1 HG01123.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp2 HG01981.hp2 HG02132.hp1 HG02155.hp2 HG02258.hp1 HG02683.hp2 HG02698.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18949.hp1 NA18952.hp1 NA18964.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA19005.hp1 NA19064.hp2 NA19090.hp1	a0004 a0006 a0008 others(18): Show a0004 a0006 a0008 a0012 a0015 a0018 a0029 a0031 a0033 a0038 a0039 a0041 a0057 a0058 a0064 a0065 a0095 a0096 a0128 a0141 a0180	a0004c0004 a0006c0007 a0008c0009 others(19): Show a0004c0004 a0006c0007 a0008c0009 a0012c0026 a0012c0153 a0015c0024 a0018c0019 a0029c0023 a0031c0057 a0033c0056 a0038c0054 a0039c0050 a0041c0051 a0057c0059 a0058c0061 a0064c0190 a0065c0189 a0095c0151 a0096c0152 a0128c0161 a0141c0118 a0180c0070	a0004c0004t0001 a0006c0007t0001 a0008c0009t0001 others(19): Show a0004c0004t0001 a0006c0007t0001 a0008c0009t0001 a0012c0026t0002 a0012c0153t0002 a0015c0024t0001 a0018c0019t0001 a0029c0023t0001 a0031c0057t0001 a0033c0056t0001 a0038c0054t0001 a0039c0050t0002 a0041c0051t0001 a0057c0059t0001 a0058c0061t0001 a0064c0190t0001 a0065c0189t0001 a0095c0151t0002 a0096c0152t0001 a0128c0161t0002 a0141c0118t0001 a0180c0070t0001	a0004c0004t0001g0001 a0006c0007t0001g0003 a0008c0009t0001g0003 others(20): Show a0004c0004t0001g0001 a0006c0007t0001g0003 a0008c0009t0001g0003 a0012c0026t0002g0002 a0012c0153t0002g0002 a0015c0024t0001g0001 a0018c0019t0001g0001 a0029c0023t0001g0003 a0031c0057t0001g0003 a0033c0056t0001g0001 a0033c0056t0001g0003 a0038c0054t0001g0001 a0039c0050t0002g0006 a0041c0051t0001g0002 a0057c0059t0001g0003 a0058c0061t0001g0003 a0064c0190t0001g0003 a0065c0189t0001g0003 a0095c0151t0002g0002 a0096c0152t0001g0001 a0128c0161t0002g0002 a0141c0118t0001g0001 a0180c0070t0001g0007	38	359	0.1059	105	c.661 others(112): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAA	p.Arg others(118): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906041	A A	ATTTTCCA others(518): Show ATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGC ACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTAC TGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGT TTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTG AGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCC TCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTAC TTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCT CCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAG AGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC CTCCTTCTCCTCCACTTTAGTGAGTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19079.hp1 NA19079.hp1	a0142 a0142	a0142c0116 a0142c0116	a0142c0116t0001 a0142c0116t0001	a0142c0116t0001g0001 a0142c0116t0001g0001	1	359	0.0028	525	c.661 others(532): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCA GTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGA GTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTT GCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTT ACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGG GTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCC ACTTTAGTGAGTCTTTTCCAGAGTTCCCCTGAGAGAA	p.Arg others(538): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heProGlnSerProLeuGlnIleProValSerArgSerPheSerSerThr LeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGl uGlyPheAlaGlnSerProLeuGlnIleProValSerProSerSerSerS erThrLeuLeuSerLeuPheGlnSerPheSerGluArgThrGlnSerThr PheGluGlyPheAlaGlnSerSerLeuGlnIleProValSerProSerPh eSerSerThrLeuValSerLeuPheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906041	A A	ATTTTCCA others(308): Show ATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGC ACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTAC TGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGT TTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTG AGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCC TCCACTTTAGTGAGTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18993.hp1 NA18993.hp1	a0098 a0098	a0098c0154 a0098c0154	a0098c0154t0001 a0098c0154t0001	a0098c0154t0001g0001 a0098c0154t0001g0001	1	359	0.0028	315	c.661 others(322): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCA GTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGA GTCTTTTCCAGAGTTCCCCTGAGAGAA	p.Arg others(328): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heAlaGlnSerProLeuGlnIleProValSerProSerPheSerSerThr LeuValSerLeuPheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906041	A A	ATTTTCCA others(308): Show ATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGC ACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTAC TGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGT TTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTG AGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCC TCCACTTTACTGAGTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18962.hp1 NA18962.hp1	a0090 a0090	a0090c0168 a0090c0168	a0090c0168t0001 a0090c0168t0001	a0090c0168t0001g0001 a0090c0168t0001g0001	1	359	0.0028	315	c.661 others(322): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTCCCCA GTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGA GTCTTTTCCAGAGTTCCCCTGAGAGAA	p.Arg others(328): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgSerGlnArgThrSerGluGlyP heProGlnSerProLeuGlnIleProValSerSerSerSerSerSerThr LeuLeuSerLeuPheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906041	A A	ATTTTCCA others(308): Show ATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGC ACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTAC TGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGT TTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTG AGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCC TCCACTTTACTGAGTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18949.hp2 NA18979.hp2 NA19063.hp1 others(1): Show NA18949.hp2 NA18979.hp2 NA19063.hp1 NA19084.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0001 a0011c0020t0001g0001	4	359	0.0111	315	c.661 others(322): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACA GTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGA GTCTTTTCCAGAGTTCCCCTGAGAGAA	p.Arg others(328): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgSerGlnArgThrSerGluGlyP heAlaGlnSerProLeuGlnIleProValSerSerSerSerSerSerThr LeuLeuSerLeuPheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906041	A A	ATTTTCCA others(518): Show ATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGC ACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTAC TGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGT TTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTG AGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCC TCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTAC TTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCT TCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAG AGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTC CTCCTCGTCCTCCACTTTACTGAGTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18984.hp1 NA18984.hp1	a0089 a0089	a0089c0171 a0089c0171	a0089c0171t0001 a0089c0171t0001	a0089c0171t0001g0001 a0089c0171t0001g0001	1	359	0.0028	525	c.661 others(532): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACA GTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGA GTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTT CCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTT ATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGG GTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCC ACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAA	p.Arg others(538): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgSerGlnArgThrSerGluGlyP heAlaGlnSerProLeuGlnIleProValSerSerSerSerSerSerThr LeuLeuSerLeuPheGlnSerSerProGluArgThrGlnSerThrPheGl uGlyPheProGlnSerProLeuGlnIleProValSerArgSerPheSerS erThrLeuLeuSerIlePheGlnSerSerProGluArgSerGlnArgThr SerGluGlyPheAlaGlnSerProLeuGlnIleProValSerSerSerSe rSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906056	C C	CCTGAGAG others(98): Show CCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCACAGTCTCCTCTCCA GATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGA GTTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0085 a0002c0085	a0002c0085t0001 a0002c0085t0001	a0002c0085t0001g0001 a0002c0085t0001g0001	1	359	0.0028	105	c.686 others(112): Show c.686_687insACAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCT CCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGT ACTTTTGAGGGTTTTGC	p.Ala others(118): Show p.Ala229_Gln230insGlnSerProLeuGlnIleProValSerProSe rPheSerSerThrLeuLeuSerLeuPheGlnSerPheSerGluArgThrG lnSerThrPheGluGlyPheAla	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	973/4256	687/3429	229/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906056	C C	CCTGAGAG others(98): Show CCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCA GATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGA GTTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00323.hp2 HG00673.hp1 others(15): Show HG00099.hp2 HG00323.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp2 HG01192.hp1 HG02071.hp1 HG03942.hp1 NA18944.hp1 NA18946.hp1 NA18951.hp1 NA18951.hp2 NA19003.hp2 NA19010.hp2 NA19062.hp1 NA19070.hp1 NA19075.hp1 NA19083.hp1	a0002 a0052 a0067 others(1): Show a0002 a0052 a0067 a0163	a0002c0003 a0002c0093 a0052c0038 others(2): Show a0002c0003 a0002c0093 a0052c0038 a0067c0187 a0163c0094	a0002c0003t0001 a0002c0003t0003 a0002c0093t0001 others(3): Show a0002c0003t0001 a0002c0003t0003 a0002c0093t0001 a0052c0038t0001 a0067c0187t0001 a0163c0094t0001	a0002c0003t0001g0001 a0002c0003t0003g0005 a0002c0093t0001g0001 others(3): Show a0002c0003t0001g0001 a0002c0003t0003g0005 a0002c0093t0001g0001 a0052c0038t0001g0002 a0067c0187t0001g0003 a0163c0094t0001g0001	18	359	0.0501	105	c.721 others(112): Show c.721_722insTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCT GAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGAT TCCTGTGAGCCCCTCCT	p.Ser others(118): Show p.Ser240_Ser241insPheSerSerThrLeuLeuSerLeuPheGlnSe rPheSerGluArgThrGlnSerThrPheGluGlyPheAlaGlnSerProL euGlnIleProValSerProSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1008/4256	722/3429	241/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906056	C C	CCTGAGAG others(203): Show CCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCA GATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGA GTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCT CTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTACTGAGTCTTTT CCAGAGTTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19067.hp1 NA19067.hp1	a0164 a0164	a0164c0097 a0164c0097	a0164c0097t0001 a0164c0097t0001	a0164c0097t0001g0001 a0164c0097t0001g0001	1	359	0.0028	210	c.721 others(217): Show c.721_722insTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCT GAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGAT TCCTGTGAGCCGCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTT TCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTC CAGATTCCTGTGAGCCCCTCCT	p.Ser others(223): Show p.Ser240_Ser241insPheSerSerThrLeuLeuSerLeuPheGlnSe rPheSerGluArgThrGlnSerThrPheGluGlyPheAlaGlnSerProL euGlnIleProValSerArgSerPheSerSerThrLeuLeuSerLeuPhe GlnSerPheSerGluArgThrGlnSerThrPheGluGlyPheAlaGlnSe rProLeuGlnIleProValSerProSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1008/4256	722/3429	241/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906056	C C	CCTGAGAG others(308): Show CCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCA GATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGA GTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCA CTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTATTGAGTATTTT CCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGT CTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGT CTTTTCCAGAGTTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18942.hp1 NA18987.hp2 NA18942.hp1 NA18987.hp2	a0037 a0037	a0037c0042 a0037c0042	a0037c0042t0001 a0037c0042t0001	a0037c0042t0001g0002 a0037c0042t0001g0002	2	359	0.0056	315	c.661 others(322): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCA GTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGA GTCTTTTCCAGAGTTTCTCTGAGAGAA	p.Arg others(328): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerProSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heAlaGlnSerProLeuGlnIleProValSerProSerSerSerSerThr LeuLeuSerLeuPheGlnSerPheSerGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906056	C C	CCTGAGAG others(308): Show CCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCA GATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGA GTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCA CTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTT CCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGT CTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGT CTTTTCCAGAGTTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01884.hp2 HG01884.hp2	a0134 a0134	a0134c0121 a0134c0121	a0134c0121t0003 a0134c0121t0003	a0134c0121t0003g0005 a0134c0121t0003g0005	1	359	0.0028	315	c.661 others(322): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCA GTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGA GTCTTTTCCAGAGTTTCTCTGAGAGAA	p.Arg others(328): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heProGlnSerProLeuGlnIleProValSerProSerPheSerSerThr LeuLeuSerLeuPheGlnSerPheSerGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906056	C C	CCTGAGAG others(308): Show CCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCA GATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGA GTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCA CTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTT CCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGT CTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGT CTTTTCCAGAGTTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18969.hp2 NA18973.hp1 NA18969.hp2 NA18973.hp1	a0102 a0116 a0102 a0116	a0102c0133 a0116c0131 a0102c0133 a0116c0131	a0102c0133t0001 a0116c0131t0001 a0102c0133t0001 a0116c0131t0001	a0102c0133t0001g0002 a0116c0131t0001g0001 a0102c0133t0001g0002 a0116c0131t0001g0001	2	359	0.0056	315	c.661 others(322): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCA GTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGA GTCTTTTCCAGAGTTTCTCTGAGAGAA	p.Arg others(328): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heAlaGlnSerProLeuGlnIleProValSerProSerSerSerSerThr LeuLeuSerLeuPheGlnSerPheSerGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906056	C C	CCTGAGAG others(308): Show CCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCA GATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGA GTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCA CTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTT CCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGT CTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGT CTTTTCCAGAGTTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02145.hp1 HG02145.hp1	a0092 a0092	a0092c0149 a0092c0149	a0092c0149t0001 a0092c0149t0001	a0092c0149t0001g0001 a0092c0149t0001g0001	1	359	0.0028	315	c.661 others(322): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCA GTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGA GTCTTTTCCAGAGTTTCTCTGAGAGAA	p.Arg others(328): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heAlaGlnSerProLeuGlnIleProValSerProSerPheSerSerThr LeuLeuSerLeuPheGlnSerPheSerGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906056	C C	CCTGAGAG others(518): Show CCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCA GATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGA GTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCA CTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTT CCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGT CTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGT CTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGC CCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTAC TGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGT TTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCAC TTTACTGAGTCTTTTCCAGAGTTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18959.hp1 NA18959.hp1	a0088 a0088	a0088c0172 a0088c0172	a0088c0172t0001 a0088c0172t0001	a0088c0172t0001g0001 a0088c0172t0001g0001	1	359	0.0028	525	c.661 others(532): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACA GTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGA GTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTT GCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTT ACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGG GTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCC ACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAA	p.Arg others(538): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgSerGlnArgThrSerGluGlyP heAlaGlnSerProLeuGlnIleProValSerSerSerSerSerSerThr LeuLeuSerLeuPheGlnSerSerProGluArgThrGlnSerThrPheGl uGlyPheAlaGlnSerProLeuGlnIleProValSerProSerSerSerS erThrLeuLeuSerLeuPheGlnSerPheSerGluArgThrGlnSerThr PheGluGlyPheAlaGlnSerSerLeuGlnIleProValSerProSerSe rSerSerThrLeuLeuSerLeuPheGlnSerPheSerGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906056	C C	CCTGAGAG others(98): Show CCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCCCAGTCTCCTCTCCA GATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGA GTTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02280.hp1 HG02622.hp2 HG02976.hp2 HG02280.hp1 HG02622.hp2 HG02976.hp2	a0035 a0077 a0035 a0077	a0035c0055 a0077c0177 a0035c0055 a0077c0177	a0035c0055t0001 a0077c0177t0001 a0035c0055t0001 a0077c0177t0001	a0035c0055t0001g0003 a0077c0177t0001g0003 a0035c0055t0001g0003 a0077c0177t0001g0003	3	359	0.0084	105	c.661 others(112): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCCCAGTCTCCTCTC CAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCA GAGTTTCTCTGAGAGAA	p.Arg others(118): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerProSerPheSerSerThrLeuLeuSerL euPheGlnSerPheSerGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906098	C C	CCTCTCCA others(98): Show CCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCT TTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCC AGTCTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18957.hp1 NA18957.hp1	a0169 a0169	a0169c0087 a0169c0087	a0169c0087t0001 a0169c0087t0001	a0169c0087t0001g0002 a0169c0087t0001g0002	1	359	0.0028	105	c.722 others(112): Show c.722_826dupCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCT GAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGAT TCCTGTGAGCCCCTCCT	p.Ser others(13): Show p.Ser241_Ser275dup	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1113/4256	827/3429	276/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906100	T T	TCTCCAGA others(98): Show TCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTT TCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAG TCTCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19001.hp2 NA19001.hp2	a0158 a0158	a0158c0092 a0158c0092	a0158c0092t0001 a0158c0092t0001	a0158c0092t0001g0001 a0158c0092t0001g0001	1	359	0.0028	105	c.721 others(112): Show c.721_722insTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCT GAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCACTCCAGAT TCCTGTGAGCCCCTCCT	p.Ser others(118): Show p.Ser240_Ser241insPheSerSerThrLeuLeuSerLeuPheGlnSe rPheSerGluArgThrGlnSerThrPheGluGlyPheAlaGlnSerProL euGlnIleProValSerProSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1008/4256	722/3429	241/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906140	C C	CTGAGTCT others(98): Show CTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCA CTTTAT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00558.hp1 HG00558.hp1	a0149 a0149	a0149c0174 a0149c0174	a0149c0174t0001 a0149c0174t0001	a0149c0174t0001g0001 a0149c0174t0001g0001	1	359	0.0028	105	c.754 others(112): Show c.754_755insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCC CAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATT GAGTCTTTTCCAGAGTT	p.Ser others(118): Show p.Ser251_Phe252insSerProGluArgThrGlnSerThrPheGluGl yPheProGlnSerProLeuGlnIleProValSerArgSerPheSerSerT hrLeuLeuSerLeuPheGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1041/4256	755/3429	252/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906146	C C	CTTTTCCA others(98): Show CTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCC CCAGTCTCCACTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAT TGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01256.hp1 HG01361.hp1 HG01256.hp1 HG01361.hp1	a0036 a0036	a0036c0041 a0036c0041	a0036c0041t0001 a0036c0041t0001	a0036c0041t0001g0001 a0036c0041t0001g0001	2	359	0.0056	105	c.754 others(112): Show c.754_755insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCC CAGTCTCCACTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTATT GAGTATTTTCCAGAGTT	p.Ser others(118): Show p.Ser251_Phe252insSerProGluArgThrGlnSerThrPheGluGl yPheProGlnSerProLeuGlnIleProValSerProSerPheSerSerT hrLeuLeuSerIlePheGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1041/4256	755/3429	252/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906146	C C	CTTTTCCA others(98): Show CTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCC CCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTAT TGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01257.hp1 HG01433.hp1 HG01891.hp2 others(32): Show HG01257.hp1 HG01433.hp1 HG01891.hp2 HG01993.hp2 HG02135.hp1 HG02273.hp2 HG02602.hp1 HG02630.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03710.hp1 HG03927.hp1 NA18941.hp1 NA18945.hp1 NA18950.hp2 NA18965.hp1 NA18966.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18988.hp1 NA18992.hp2 NA18994.hp1 NA19002.hp1 NA19002.hp2 NA19057.hp1 NA19066.hp1 NA19086.hp1	a0004 a0006 a0008 others(18): Show a0004 a0006 a0008 a0015 a0018 a0029 a0031 a0041 a0046 a0048 a0058 a0059 a0066 a0094 a0099 a0100 a0104 a0120 a0124 a0129 a0157	a0004c0004 a0006c0007 a0008c0009 others(19): Show a0004c0004 a0006c0007 a0008c0009 a0015c0024 a0015c0178 a0018c0019 a0029c0023 a0031c0057 a0041c0051 a0046c0053 a0048c0046 a0058c0061 a0059c0031 a0066c0188 a0094c0147 a0099c0155 a0100c0136 a0104c0134 a0120c0128 a0124c0157 a0129c0164 a0157c0180	a0004c0004t0001 a0006c0007t0001 a0008c0009t0001 others(19): Show a0004c0004t0001 a0006c0007t0001 a0008c0009t0001 a0015c0024t0001 a0015c0178t0001 a0018c0019t0001 a0029c0023t0001 a0031c0057t0001 a0041c0051t0001 a0046c0053t0001 a0048c0046t0001 a0058c0061t0001 a0059c0031t0001 a0066c0188t0001 a0094c0147t0001 a0099c0155t0001 a0100c0136t0001 a0104c0134t0001 a0120c0128t0001 a0124c0157t0002 a0129c0164t0001 a0157c0180t0001	a0004c0004t0001g0001 a0006c0007t0001g0003 a0008c0009t0001g0003 others(21): Show a0004c0004t0001g0001 a0006c0007t0001g0003 a0008c0009t0001g0003 a0015c0024t0001g0001 a0015c0024t0001g0003 a0015c0178t0001g0001 a0018c0019t0001g0001 a0029c0023t0001g0003 a0031c0057t0001g0003 a0041c0051t0001g0002 a0046c0053t0001g0001 a0048c0046t0001g0001 a0058c0061t0001g0003 a0059c0031t0001g0003 a0059c0031t0001g0011 a0066c0188t0001g0003 a0094c0147t0001g0001 a0099c0155t0001g0001 a0100c0136t0001g0001 a0104c0134t0001g0002 a0120c0128t0001g0001 a0124c0157t0002g0001 a0129c0164t0001g0002 a0157c0180t0001g0001	35	359	0.0975	105	c.754 others(112): Show c.754_755insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCC CAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATT GAGTATTTTCCAGAGTT	p.Ser others(118): Show p.Ser251_Phe252insSerProGluArgThrGlnSerThrPheGluGl yPheProGlnSerProLeuGlnIleProValSerArgSerPheSerSerT hrLeuLeuSerIlePheGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1041/4256	755/3429	252/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906146	C C	CTTTTCCA others(203): Show CTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCC CCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTAT TGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGT TTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02055.hp1 HG02055.hp1	a0186 a0186	a0186c0064 a0186c0064	a0186c0064t0001 a0186c0064t0001	a0186c0064t0001g0003 a0186c0064t0001g0003	1	359	0.0028	210	c.754 others(217): Show c.754_755insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCC CAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATT GAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTT TTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACT TTATTGAGTATTTTCCAGAGTT	p.Ser others(223): Show p.Ser251_Phe252insSerProGluArgThrGlnSerThrPheGluGl yPheProGlnSerProLeuGlnIleProValSerArgSerPheSerSerT hrLeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerThrPhe GluGlyPheProGlnSerProLeuGlnIleProValSerArgSerPheSe rSerThrLeuLeuSerIlePheGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1041/4256	755/3429	252/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906146	C C	CTTTTCCA others(203): Show CTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCC CCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTAT TGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGT TTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCAC TTTACTGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02572.hp1 HG02572.hp1	a0133 a0133	a0133c0120 a0133c0120	a0133c0120t0003 a0133c0120t0003	a0133c0120t0003g0013 a0133c0120t0003g0013	1	359	0.0028	210	c.754 others(217): Show c.754_755insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCC CAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATT GAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTT TTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACT TTACTGAGTATTTTCCAGAGTT	p.Ser others(223): Show p.Ser251_Phe252insSerProGluArgThrGlnSerThrPheGluGl yPheProGlnSerProLeuGlnIleProValSerArgSerPheSerSerT hrLeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerThrPhe GluGlyPheProGlnSerProLeuGlnIleProValSerProSerPheSe rSerThrLeuLeuSerIlePheGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1041/4256	755/3429	252/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906146	C C	CTTTTCCA others(203): Show CTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCC CCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTAT TGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGT TTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCAC TTTAGTGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03041.hp2 HG03041.hp2	a0183 a0183	a0183c0062 a0183c0062	a0183c0062t0001 a0183c0062t0001	a0183c0062t0001g0003 a0183c0062t0001g0003	1	359	0.0028	210	c.754 others(217): Show c.754_755insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCC CAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATT GAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTT TTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACT TTAGTGAGTATTTTCCAGAGTT	p.Ser others(223): Show p.Ser251_Phe252insSerProGluArgThrGlnSerThrPheGluGl yPheProGlnSerProLeuGlnIleProValSerArgSerPheSerSerT hrLeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerThrPhe GluGlyPheAlaGlnSerProLeuGlnIleProValSerProSerPheSe rSerThrLeuValSerIlePheGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1041/4256	755/3429	252/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906146	C C	CTTTTCCA others(203): Show CTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCC CCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTAT TGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGT TTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCAC TTTAGTGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01167.hp1 HG06807.hp1 HG01167.hp1 HG06807.hp1	a0020 a0020	a0020c0021 a0020c0021	a0020c0021t0001 a0020c0021t0001	a0020c0021t0001g0001 a0020c0021t0001g0001	2	359	0.0056	210	c.754 others(217): Show c.754_755insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCC CAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATT GAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTT TTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACT TTAGTGAGTATTTTCCAGAGTT	p.Ser others(223): Show p.Ser251_Phe252insSerProGluArgThrGlnSerThrPheGluGl yPheProGlnSerProLeuGlnIleProValSerArgSerPheSerSerT hrLeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerThrPhe GluGlyPheAlaGlnSerSerLeuGlnIleProValSerProSerPheSe rSerThrLeuValSerIlePheGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1041/4256	755/3429	252/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906205	T T	TCCA TCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03486.hp2 NA19240.hp2 HG03486.hp2 NA19240.hp2	a0087 a0145 a0087 a0145	a0087c0170 a0145c0114 a0087c0170 a0145c0114	a0087c0170t0003 a0145c0114t0001 a0087c0170t0003 a0145c0114t0001	a0087c0170t0003g0005 a0145c0114t0001g0010 a0087c0170t0003g0005 a0145c0114t0001g0010	2	359	0.0056	3	c.802 others(10): Show c.802_803insCAC	p.Ser others(16): Show p.Ser267_Leu268insPro	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1089/4256	803/3429	268/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906356	C C	CTTTTCCA others(98): Show CTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGC CCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAG TGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03195.hp2 HG03195.hp2	a0136 a0136	a0136c0124 a0136c0124	a0136c0124t0003 a0136c0124t0003	a0136c0124t0003g0005 a0136c0124t0003g0005	1	359	0.0028	105	c.964 others(112): Show c.964_965insTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCC CAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGT GAGTATTTTCCAGAGTT	p.Ser others(118): Show p.Ser321_Ser322insPheSerGluArgThrGlnSerThrPheGluGl yPheAlaGlnSerSerLeuGlnIleProValSerProSerPheSerSerT hrLeuValSerIlePheGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1251/4256	965/3429	322/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906413	C C	CCACTCCA others(203): Show CCACTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTATTGAGTAT TTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCC AGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTG AGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTT TGCCCAGTCTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02451.hp2 HG02451.hp2	a0139 a0139	a0139c0112 a0139c0112	a0139c0112t0001 a0139c0112t0001	a0139c0112t0001g0010 a0139c0112t0001g0010	1	359	0.0028	210	c.100 others(219): Show c.1009_1010insCACTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCA CTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTT GAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTC CTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTA CTTTTGAGGGTTTTGCCCAGTCTT	p.Leu others(222): Show p.Leu337delinsProLeuGlnIleProValSerProSerPheSerSer ThrLeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerThrPh eGluGlyPheProGlnSerProLeuGlnIleProValSerProSerPheS erSerThrLeuLeuSerLeuPheGlnSerPheSerGluArgThrGlnSer ThrPheGluGlyPheAlaGlnSerPhe	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1296/4256	1010/3429	337/1142		chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906560	C C	CTGAGTCT others(203): Show CTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCA CTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTT GAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTC CTCCACTTTAT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02723.hp1 HG02723.hp1	a0086 a0086	a0086c0169 a0086c0169	a0086c0169t0003 a0086c0169t0003	a0086c0169t0003g0005 a0086c0169t0003g0005	1	359	0.0028	210	c.117 others(219): Show c.1174_1175insTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTG CCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTA GTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCA CTTTATTGAGTCTTTTCCAGAGTT	p.Ser others(223): Show p.Ser391_Ser392insPheSerGluArgThrGlnSerThrPheGluGl yPheAlaGlnSerSerLeuGlnIleProValSerProSerPheSerSerT hrLeuValSerIlePheGlnSerSerProGluArgThrGlnSerThrPhe GluGlyPheProGlnSerProLeuGlnIleProValSerSerSerSerSe rSerThrLeuLeuSerLeuPheGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1461/4256	1175/3429	392/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEF1_chr3_184705364_184717064	184711345	A A	ATCC ATCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(206): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18976.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0008 others(4): Show a0002 a0003 a0008 a0009 a0010 a0011 a0014	a0002c0002 a0003c0003 a0008c0008 others(4): Show a0002c0002 a0003c0003 a0008c0008 a0009c0009 a0010c0010 a0011c0014 a0014c0013	a0002c0002t0002 a0002c0002t0005 a0003c0003t0001 others(7): Show a0002c0002t0002 a0002c0002t0005 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0008c0008t0001 a0009c0009t0002 a0010c0010t0002 a0011c0014t0002 a0014c0013t0002	a0002c0002t0002g0000 a0002c0002t0005g0000 a0003c0003t0001g0000 others(7): Show a0002c0002t0002g0000 a0002c0002t0005g0000 a0003c0003t0001g0000 a0003c0003t0002g0000 a0003c0003t0004g0000 a0008c0008t0001g0000 a0009c0009t0002g0000 a0010c0010t0002g0000 a0011c0014t0002g0000 a0014c0013t0002g0000	209	456	0.4583	3	c.474 others(10): Show c.474_476dupGGA	p.Glu others(6): Show p.Glu158dup	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding	1/1	719/1701	476/924	159/307		chr3	TogoVar
MAGEF1_chr3_184705364_184717064	184711345	A A	ATCCTCC ATCCTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00639.hp2 HG01167.hp1 HG01169.hp2 others(4): Show HG00639.hp2 HG01167.hp1 HG01169.hp2 HG02486.hp1 HG02895.hp2 HG02976.hp1 HG03195.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0000 a0004c0004t0001g0000	7	456	0.0154	6	c.471 others(13): Show c.471_476dupGGAGGA	p.Glu others(13): Show p.Glu157_Glu158dup	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding	1/1	719/1701	476/924	159/307		chr3	TogoVar
MAK16_chr8_33480182_33506262	33496717	A A	AGAT AGAT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp2 HG00280.hp2 HG01192.hp1 others(12): Show HG00140.hp2 HG00280.hp2 HG01192.hp1 HG01346.hp2 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02451.hp2 HG02615.hp1 HG02647.hp2 HG02818.hp2 HG03098.hp2 HG03516.hp2 NA19030.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0013 a0003c0003t0004 a0003c0003t0013	a0003c0003t0004g0016 a0003c0003t0004g0044 a0003c0003t0004g0045 others(8): Show a0003c0003t0004g0016 a0003c0003t0004g0044 a0003c0003t0004g0045 a0003c0003t0004g0120 a0003c0003t0004g0121 a0003c0003t0004g0123 a0003c0003t0004g0124 a0003c0003t0004g0125 a0003c0003t0004g0126 a0003c0003t0013g0016 a0003c0003t0013g0134	15	400	0.0375	3	c.633 others(10): Show c.633_635dupTGA	p.Asp others(6): Show p.Asp211dup	MAK16	ENSG00000198042.11	transcript	ENST00000360128.11	protein_coding	8/10	661/3561	636/903	212/300	INFO_REALIGN_3_PRIME	chr8	TogoVar
MANEAL_chr1_37788847_37806133	37794389	C C	CCCG CCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18955.hp1 NA18966.hp1 NA18989.hp2 others(2): Show NA18955.hp1 NA18966.hp1 NA18989.hp2 NA19003.hp2 NA19066.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	5	438	0.0114	3	c.222 others(10): Show c.222_224dupGCC	p.Pro others(5): Show p.Pro75dup	MANEAL	ENSG00000185090.15	transcript	ENST00000373045.11	protein_coding	1/4	561/2640	225/1374	75/457	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP1B_chr5_72102475_72214565	72197998	G G	GGTGCAGC others(5): Show GGTGCAGCCGTCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01993.hp1 HG01993.hp1	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0006 a0010c0023t0006	a0010c0023t0006g0166 a0010c0023t0006g0166	1	342	0.0029	12	c.464 others(21): Show c.4643_4644insGTGCAGCCGTCA	p.Gly others(27): Show p.Gly1548_Val1549insCysSerArgHis	MAP1B	ENSG00000131711.15	transcript	ENST00000296755.12	protein_coding	5/7	4701/11790	4644/7407	1548/2468		chr5	TogoVar
MAP3K15_chrX_19355059_19520508	19515127	T T	TGCCGCGC others(32): Show TGCCGCGCCCTCCGCCGCCCCGTCGGGCTCCGCCGGCCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19085.hp1 NA19085.hp1	a0018 a0018	a0018c0025 a0018c0025	a0018c0025t0004 a0018c0025t0004	a0018c0025t0004g0017 a0018c0025t0004g0017	1	163	0.0061	39	c.96_ others(45): Show c.96_134dupCGGGCCGGCGGAGCCCGACGGGGCGGCGGAGGGCGCGGC	p.Ala others(50): Show p.Ala45_Gly46insGlyProAlaGluProAspGlyAlaAlaGluGlyA laAla	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	1/29	381/4879	134/3942	45/1313		chrX	TogoVar
MAP3K4_chr6_160986769_161122380	160992012	A A	ACCG ACCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00738.hp1 HG01361.hp1 HG02055.hp1 others(14): Show HG00738.hp1 HG01361.hp1 HG02055.hp1 HG02486.hp1 HG02683.hp2 HG03098.hp2 HG03239.hp2 HG03490.hp2 HG03704.hp2 HG03942.hp1 NA18945.hp2 NA18952.hp1 NA18956.hp2 NA19007.hp1 NA19058.hp2 NA19074.hp1 NA21309.hp1	a0002 a0008 a0015 a0002 a0008 a0015	a0002c0002 a0002c0012 a0008c0010 others(1): Show a0002c0002 a0002c0012 a0008c0010 a0015c0011	a0002c0002t0002 a0002c0012t0004 a0008c0010t0002 others(1): Show a0002c0002t0002 a0002c0012t0004 a0008c0010t0002 a0015c0011t0004	a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 others(14): Show a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0012t0004g0285 a0008c0010t0002g0017 a0008c0010t0002g0023 a0015c0011t0004g0284	17	342	0.0497	3	c.93_ others(8): Show c.93_95dupGCC	p.Pro others(5): Show p.Pro32dup	MAP3K4	ENSG00000085511.20	transcript	ENST00000392142.9	protein_coding	1/27	259/5500	96/4827	32/1608	INFO_REALIGN_3_PRIME	chr6	TogoVar
MAP3K4_chr6_160986769_161122380	160992037	C C	CCGGAACC others(11): Show CCGGAACCCGAGACCGAGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00639.hp1 HG00639.hp1	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0001 a0014c0021t0001	a0014c0021t0001g0127 a0014c0021t0001g0127	1	342	0.0029	18	c.108 others(25): Show c.108_125dupGGAACCCGAGACCGAGTC	p.Ser others(29): Show p.Ser42_Glu43insGluProGluThrGluSer	MAP3K4	ENSG00000085511.20	transcript	ENST00000392142.9	protein_coding	1/27	289/5500	126/4827	42/1608	INFO_REALIGN_3_PRIME	chr6	TogoVar
MAP7D1_chr1_36151160_36185849	36179287	C C	CTCGGAGG others(8): Show CTCGGAGGACAGAAGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03041.hp1 HG03041.hp1	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0001 a0014c0029t0001	a0014c0029t0001g0072 a0014c0029t0001g0072	1	378	0.0027	15	c.216 others(24): Show c.2161_2162insGGACAGAAGGTCGGA	p.Arg others(28): Show p.Arg720_Lys721insArgThrGluGlyArg	MAP7D1	ENSG00000116871.16	transcript	ENST00000474796.2	protein_coding	13/17	2420/3372	2162/2523	721/840	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST4_chr5_66591393_67174593	66596939	T T	TGCC TGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00323.hp1 HG00323.hp2 HG01168.hp2 others(6): Show HG00323.hp1 HG00323.hp2 HG01168.hp2 HG01256.hp2 HG02738.hp2 HG02976.hp1 HG03017.hp1 HG04204.hp2 HG06807.hp1	a0003 a0020 a0003 a0020	a0003c0004 a0003c0019 a0020c0018 a0003c0004 a0003c0019 a0020c0018	a0003c0004t0002 a0003c0004t0012 a0003c0019t0007 others(1): Show a0003c0004t0002 a0003c0004t0012 a0003c0019t0007 a0020c0018t0002	a0003c0004t0002g0020 a0003c0004t0002g0021 a0003c0004t0002g0022 others(6): Show a0003c0004t0002g0020 a0003c0004t0002g0021 a0003c0004t0002g0022 a0003c0004t0002g0023 a0003c0004t0002g0024 a0003c0004t0002g0025 a0003c0004t0012g0002 a0003c0019t0007g0026 a0020c0018t0002g0019	9	108	0.0833	3	c.293 others(10): Show c.293_295dupCGC	p.Pro others(5): Show p.Pro98dup	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	1/29	559/10677	296/7872	99/2623	INFO_REALIGN_3_PRIME	chr5	TogoVar
MAVS_chr20_3841834_3881118	3864345	C C	CAAG CAAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00735.hp1 HG01981.hp2 HG02280.hp1 others(6): Show HG00735.hp1 HG01981.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02818.hp1 HG03195.hp1 HG03486.hp1 HG03579.hp2	a0008 a0009 a0008 a0009	a0008c0009 a0009c0011 a0008c0009 a0009c0011	a0008c0009t0032 a0008c0009t0056 a0008c0009t0092 others(4): Show a0008c0009t0032 a0008c0009t0056 a0008c0009t0092 a0009c0011t0053 a0009c0011t0057 a0009c0011t0099 a0009c0011t0109	a0008c0009t0032g0268 a0008c0009t0032g0370 a0008c0009t0032g0394 others(6): Show a0008c0009t0032g0268 a0008c0009t0032g0370 a0008c0009t0032g0394 a0008c0009t0056g0383 a0008c0009t0092g0390 a0009c0011t0053g0136 a0009c0011t0057g0380 a0009c0011t0099g0352 a0009c0011t0109g0392	9	420	0.0214	3	c.715 others(10): Show c.715_716insAAG	p.Arg others(15): Show p.Arg239delinsGlnGly	MAVS	ENSG00000088888.18	transcript	ENST00000428216.4	protein_coding	6/7	853/11731	716/1623	239/540		chr20	TogoVar
MAZ_chr16_29801529_29816164	29810102	G G	GGCGGCA GGCGGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02145.hp1 HG02451.hp1 HG02886.hp2 HG02145.hp1 HG02451.hp1 HG02886.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0001 a0003c0005t0001g0001	3	282	0.0106	6	c.131 others(15): Show c.1317_1322dupAGCGGC	p.Ala others(13): Show p.Ala440_Ala441dup	MAZ	ENSG00000103495.15	transcript	ENST00000322945.11	protein_coding	5/5	1496/2540	1323/1434	441/477	INFO_REALIGN_3_PRIME	chr16	TogoVar
MBD3L1_chr19_8827377_8848319	8842840	A A	ATGGGAGG others(5): Show ATGGGAGGAGAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18980.hp2 NA18980.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0004 a0005c0006t0001g0004	1	428	0.0023	12	c.164 others(19): Show c.164_175dupGGGAGGAGAGCT	p.Trp others(11): Show p.Trp55_Ser58dup	MBD3L1	ENSG00000170948.4	transcript	ENST00000595891.2	protein_coding	3/3	428/893	176/585	59/194	INFO_REALIGN_3_PRIME	chr19	TogoVar
MDC1_chr6_30694807_30722281	30705328	C C	CACAACTG others(116): Show CACAACTGGTTCAGGGGTCTTGACAGAGGATCTATTTTTTCTTCCCCTAG TAGCCTGATATGTGGGCTCAGAAGTGACAGGCTGGTCTGTGGAGGTGGAA GGCTGGAGCTCAGGGGCTGTGGGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01106.hp2 HG01243.hp2 HG01106.hp2 HG01243.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0114 a0013c0018t0001g0148 a0013c0018t0001g0114 a0013c0018t0001g0148	2	413	0.0048	123	c.373 others(132): Show c.3732_3854dupCCCCACAGCCCCTGAGCTCCAGCCTTCCACCTCCAC AGACCAGCCTGTCACTTCTGAGCCCACATATCAGGCTACTAGGGGAAGAA AAAATAGATCCTCTGTCAAGACCCCTGAACCAGTTGT	p.Val others(138): Show p.Val1285_Pro1286insProThrAlaProGluLeuGlnProSerThr SerThrAspGlnProValThrSerGluProThrTyrGlnAlaThrArgGl yArgLysAsnArgSerSerValLysThrProGluProValVal	MDC1	ENSG00000137337.16	transcript	ENST00000376406.8	protein_coding	10/15	3894/6968	3854/6270	1285/2089		chr6	TogoVar
MDC1_chr6_30694807_30722281	30705328	C C	CACAACTG others(116): Show CACAACTGTTTCAGGGGTCTTGACAGAGGATCTATTTTTTCTTCCCCTAG TAGCCTGAGATGTGGGCTCAGAGGTGACAGATTGGTCTGTGGAGGTGGAA GGCTGGAGCTCAGGGGCTGTGGGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01074.hp2 HG02027.hp2 HG02109.hp2 others(7): Show HG01074.hp2 HG02027.hp2 HG02109.hp2 HG02738.hp1 HG02970.hp1 HG03471.hp1 HG03490.hp1 HG03540.hp2 HG04115.hp1 HG06807.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0004 a0006c0008t0007 a0006c0008t0004 a0006c0008t0007	a0006c0008t0004g0033 a0006c0008t0004g0066 a0006c0008t0004g0067 others(5): Show a0006c0008t0004g0033 a0006c0008t0004g0066 a0006c0008t0004g0067 a0006c0008t0004g0068 a0006c0008t0004g0069 a0006c0008t0004g0071 a0006c0008t0007g0034 a0006c0008t0007g0070	10	413	0.0242	123	c.385 others(132): Show c.3854_3855insCCCCACAGCCCCTGAGCTCCAGCCTTCCACCTCCAC AGACCAATCTGTCACCTCTGAGCCCACATCTCAGGCTACTAGGGGAAGAA AAAATAGATCCTCTGTCAAGACCCCTGAAACAGTTGT	p.Val others(138): Show p.Val1285_Pro1286insProThrAlaProGluLeuGlnProSerThr SerThrAspGlnSerValThrSerGluProThrSerGlnAlaThrArgGl yArgLysAsnArgSerSerValLysThrProGluThrValVal	MDC1	ENSG00000137337.16	transcript	ENST00000376406.8	protein_coding	10/15	3894/6968	3854/6270	1285/2089		chr6	TogoVar
MED12_chrX_71113596_71147450	71141301	A A	ACAGCAAC others(5): Show ACAGCAACACCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02630.hp2 HG03579.hp1 NA21309.hp1 HG02630.hp2 HG03579.hp1 NA21309.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0006 a0002c0005t0001g0145 a0002c0005t0001g0006 a0002c0005t0001g0145	3	273	0.0110	12	c.634 others(21): Show c.6348_6359dupCCAGCAGCAACA	p.His others(15): Show p.His2116_Gln2119dup	MED12	ENSG00000184634.17	transcript	ENST00000374080.8	protein_coding	43/45	6519/6925	6360/6534	2120/2177	INFO_REALIGN_3_PRIME	chrX	TogoVar

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