Joint Open Genome and Omics Platform (JoGo)

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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Select column to sort.

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Results per page.

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
L1CAM_chrX_153856516_153891173	153867077	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	-1	c.218 others(5): Show c.2184delC	p.Thr others(5): Show p.Thr729fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	18/29	2401/5138	2184/3774	728/1257		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153867885	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	1	c.185 others(5): Show c.1853dupT	p.Val others(5): Show p.Val619fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	16/29	2070/5138	1853/3774	618/1257		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153869844	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	1	c.108 others(5): Show c.1081dupC	p.Gln others(5): Show p.Gln361fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	10/29	1298/5138	1081/3774	361/1257		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153870191	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	-1	c.855 others(4): Show c.855delC	p.Asp others(5): Show p.Asp286fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	9/29	1072/5138	855/3774	285/1257		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153870200	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	-1	c.846 others(4): Show c.846delC	p.Met others(5): Show p.Met283fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	9/29	1063/5138	846/3774	282/1257		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153870404	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	1	c.789 others(4): Show c.789dupG	p.Cys others(5): Show p.Cys264fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	8/29	1006/5138	789/3774	263/1257		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153870422	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	1	c.771 others(4): Show c.771dupG	p.Gln others(5): Show p.Gln258fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	8/29	988/5138	771/3774	257/1257		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153870444	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	1	c.749 others(4): Show c.749dupG	p.Ser others(5): Show p.Ser250fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	8/29	966/5138	749/3774	250/1257		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153870476	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	1	c.717 others(4): Show c.717dupG	p.Pro others(5): Show p.Pro240fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	8/29	934/5138	717/3774	239/1257		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153870883	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	-1	c.600 others(4): Show c.600delC	p.Ser others(5): Show p.Ser201fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	7/29	817/5138	600/3774	200/1257		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153870888	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0016 a0016	a0016c0010 a0016c0010	a0016c0010t0007 a0016c0010t0007	a0016c0010t0007g0175 a0016c0010t0007g0175	1	283	0.0035	1	c.595 others(4): Show c.595dupC	p.Leu others(5): Show p.Leu199fs	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	7/29	812/5138	595/3774	199/1257		chrX	TogoVar
LILRA6_chr19_54231590_54247790	54240484	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(189): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18976.hp1 NA18984.hp1 NA18985.hp2 NA18990.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19084.hp2 NA19089.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(34): Show a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0012 a0015 a0016 a0022 a0023 a0025 a0032 a0034 a0035 a0036 a0038 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0049 a0050 a0051 a0052 a0053 a0054 a0055 a0056 a0057 a0063 a0070	a0002c0002 a0002c0027 a0002c0028 others(40): Show a0002c0002 a0002c0027 a0002c0028 a0002c0070 a0003c0003 a0003c0062 a0004c0004 a0006c0005 a0007c0007 a0007c0050 a0008c0008 a0010c0012 a0012c0011 a0015c0010 a0016c0016 a0022c0021 a0023c0075 a0023c0076 a0025c0026 a0032c0046 a0034c0052 a0035c0053 a0036c0079 a0038c0078 a0040c0065 a0041c0067 a0042c0064 a0043c0068 a0044c0074 a0045c0071 a0046c0069 a0047c0072 a0049c0063 a0050c0056 a0051c0057 a0052c0059 a0053c0058 a0054c0060 a0055c0061 a0056c0055 a0057c0054 a0063c0030 a0070c0049	a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 others(71): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0014 a0002c0002t0019 a0002c0002t0023 a0002c0002t0064 a0002c0002t0065 a0002c0027t0024 a0002c0028t0003 a0002c0070t0010 a0003c0003t0003 a0003c0003t0004 a0003c0003t0007 a0003c0003t0016 a0003c0003t0058 a0003c0003t0063 a0003c0062t0059 a0004c0004t0006 a0004c0004t0020 a0004c0004t0062 a0006c0005t0005 a0006c0005t0013 a0007c0007t0009 a0007c0007t0013 a0007c0007t0018 a0007c0050t0009 a0008c0008t0003 a0008c0008t0004 a0008c0008t0019 a0010c0012t0011 a0010c0012t0012 a0010c0012t0066 a0010c0012t0068 a0012c0011t0005 a0015c0010t0009 a0015c0010t0013 a0015c0010t0018 a0015c0010t0022 a0015c0010t0054 a0016c0016t0004 a0016c0016t0008 a0022c0021t0003 a0023c0075t0008 a0023c0076t0016 a0025c0026t0010 a0032c0046t0046 a0034c0052t0069 a0035c0053t0060 a0036c0079t0055 a0038c0078t0019 a0040c0065t0071 a0041c0067t0011 a0042c0064t0067 a0043c0068t0070 a0044c0074t0003 a0045c0071t0073 a0046c0069t0006 a0047c0072t0003 a0049c0063t0004 a0050c0056t0018 a0051c0057t0022 a0052c0059t0005 a0053c0058t0005 a0054c0060t0013 a0055c0061t0005 a0056c0055t0004 a0057c0054t0057 a0063c0030t0002 a0070c0049t0009	a0002c0002t0003g0002 a0002c0002t0003g0043 a0002c0002t0003g0140 others(97): Show a0002c0002t0003g0002 a0002c0002t0003g0043 a0002c0002t0003g0140 a0002c0002t0003g0152 a0002c0002t0003g0155 a0002c0002t0003g0156 a0002c0002t0003g0167 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0004g0006 a0002c0002t0004g0139 a0002c0002t0004g0174 a0002c0002t0007g0027 a0002c0002t0007g0172 a0002c0002t0007g0175 a0002c0002t0008g0017 a0002c0002t0008g0171 a0002c0002t0010g0029 a0002c0002t0010g0176 a0002c0002t0011g0030 a0002c0002t0011g0200 a0002c0002t0012g0046 a0002c0002t0014g0016 a0002c0002t0014g0160 a0002c0002t0019g0173 a0002c0002t0023g0202 a0002c0002t0023g0203 a0002c0002t0064g0170 a0002c0002t0065g0159 a0002c0027t0024g0047 a0002c0028t0003g0187 a0002c0028t0003g0188 a0002c0070t0010g0166 a0003c0003t0003g0143 a0003c0003t0003g0145 a0003c0003t0003g0148 a0003c0003t0004g0040 a0003c0003t0007g0010 a0003c0003t0007g0141 a0003c0003t0016g0147 a0003c0003t0016g0149 a0003c0003t0016g0150 a0003c0003t0058g0146 a0003c0003t0063g0144 a0003c0062t0059g0142 a0004c0004t0006g0011 a0004c0004t0006g0137 a0004c0004t0006g0163 a0004c0004t0020g0041 a0004c0004t0062g0165 a0006c0005t0005g0009 a0006c0005t0013g0038 a0007c0007t0009g0025 a0007c0007t0009g0121 a0007c0007t0013g0124 a0007c0007t0018g0123 a0007c0050t0009g0127 a0008c0008t0003g0183 a0008c0008t0004g0019 a0008c0008t0019g0182 a0010c0012t0011g0195 a0010c0012t0012g0045 a0010c0012t0066g0198 a0010c0012t0068g0197 a0012c0011t0005g0014 a0015c0010t0009g0119 a0015c0010t0013g0122 a0015c0010t0018g0120 a0015c0010t0022g0125 a0015c0010t0054g0118 a0016c0016t0004g0028 a0016c0016t0008g0162 a0022c0021t0003g0026 a0023c0075t0008g0180 a0023c0076t0016g0181 a0025c0026t0010g0042 a0032c0046t0046g0104 a0034c0052t0069g0189 a0035c0053t0060g0186 a0036c0079t0055g0134 a0038c0078t0019g0157 a0040c0065t0071g0191 a0041c0067t0011g0194 a0042c0064t0067g0190 a0043c0068t0070g0196 a0044c0074t0003g0154 a0045c0071t0073g0205 a0046c0069t0006g0164 a0047c0072t0003g0158 a0049c0063t0004g0151 a0050c0056t0018g0132 a0051c0057t0022g0133 a0052c0059t0005g0129 a0053c0058t0005g0128 a0054c0060t0013g0130 a0055c0061t0005g0131 a0056c0055t0004g0136 a0057c0054t0057g0135 a0063c0030t0002g0092 a0070c0049t0009g0126	192	450	0.4267	0	c.104 others(4): Show c.1048C>T	p.Gln others(4): Show p.Gln350*	LILRA6	ENSG00000244482.11	transcript	ENST00000396365.7	protein_coding	6/8	1087/3848	1048/1446	350/481		chr19	TogoVar
LILRB3_chr19_54211278_54228007	54220736	A A	C C	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0003 a0004 others(39): Show a0001 a0003 a0004 a0005 a0008 a0009 a0010 a0011 a0012 a0015 a0016 a0017 a0019 a0020 a0021 a0024 a0031 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0049 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066	a0001c0001 a0003c0002 a0004c0005 others(43): Show a0001c0001 a0003c0002 a0004c0005 a0004c0008 a0004c0046 a0005c0004 a0008c0010 a0009c0011 a0009c0076 a0010c0012 a0011c0013 a0012c0014 a0015c0019 a0016c0020 a0017c0023 a0017c0048 a0019c0026 a0020c0025 a0021c0027 a0024c0028 a0031c0034 a0036c0069 a0037c0053 a0038c0055 a0039c0054 a0040c0052 a0041c0061 a0042c0057 a0043c0056 a0044c0058 a0045c0060 a0046c0059 a0047c0062 a0049c0067 a0055c0071 a0056c0073 a0057c0072 a0058c0075 a0059c0074 a0060c0070 a0061c0042 a0062c0045 a0063c0047 a0064c0044 a0065c0043 a0066c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(65): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0032 a0001c0001t0034 a0003c0002t0001 a0003c0002t0002 a0003c0002t0016 a0003c0002t0017 a0003c0002t0027 a0003c0002t0028 a0004c0005t0001 a0004c0008t0001 a0004c0008t0013 a0004c0046t0001 a0005c0004t0001 a0005c0004t0007 a0005c0004t0010 a0005c0004t0029 a0008c0010t0003 a0008c0010t0009 a0009c0011t0001 a0009c0011t0007 a0009c0076t0001 a0010c0012t0003 a0011c0013t0001 a0012c0014t0002 a0015c0019t0003 a0015c0019t0023 a0015c0019t0035 a0016c0020t0012 a0017c0023t0001 a0017c0048t0001 a0019c0026t0003 a0020c0025t0003 a0021c0027t0003 a0024c0028t0015 a0024c0028t0022 a0031c0034t0001 a0036c0069t0020 a0037c0053t0003 a0038c0055t0003 a0039c0054t0003 a0040c0052t0024 a0041c0061t0003 a0042c0057t0003 a0043c0056t0003 a0044c0058t0003 a0045c0060t0003 a0046c0059t0003 a0047c0062t0003 a0049c0067t0021 a0055c0071t0001 a0056c0073t0001 a0057c0072t0001 a0058c0075t0002 a0059c0074t0001 a0060c0070t0015 a0061c0042t0001 a0062c0045t0001 a0063c0047t0001 a0064c0044t0001 a0065c0043t0001 a0066c0030t0007	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0079 others(100): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0002g0023 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0005g0016 a0001c0001t0005g0024 a0001c0001t0005g0087 a0001c0001t0010g0086 a0001c0001t0010g0093 a0001c0001t0018g0037 a0001c0001t0025g0094 a0001c0001t0026g0078 a0001c0001t0032g0090 a0001c0001t0034g0080 a0003c0002t0001g0103 a0003c0002t0002g0002 a0003c0002t0002g0039 a0003c0002t0002g0040 a0003c0002t0002g0041 a0003c0002t0002g0043 a0003c0002t0002g0102 a0003c0002t0002g0106 a0003c0002t0016g0098 a0003c0002t0016g0100 a0003c0002t0017g0042 a0003c0002t0027g0099 a0003c0002t0028g0101 a0004c0005t0001g0004 a0004c0005t0001g0145 a0004c0008t0001g0007 a0004c0008t0013g0028 a0004c0046t0001g0141 a0005c0004t0001g0012 a0005c0004t0001g0020 a0005c0004t0001g0022 a0005c0004t0001g0045 a0005c0004t0007g0138 a0005c0004t0010g0136 a0005c0004t0029g0137 a0008c0010t0003g0014 a0008c0010t0003g0033 a0008c0010t0003g0063 a0008c0010t0003g0064 a0008c0010t0009g0021 a0009c0011t0001g0008 a0009c0011t0007g0104 a0009c0076t0001g0105 a0010c0012t0003g0011 a0011c0013t0001g0017 a0011c0013t0001g0135 a0012c0014t0002g0015 a0015c0019t0003g0059 a0015c0019t0023g0061 a0015c0019t0035g0147 a0016c0020t0012g0032 a0016c0020t0012g0052 a0017c0023t0001g0143 a0017c0023t0001g0144 a0017c0048t0001g0146 a0019c0026t0003g0054 a0019c0026t0003g0055 a0020c0025t0003g0035 a0021c0027t0003g0034 a0024c0028t0015g0057 a0024c0028t0022g0058 a0031c0034t0001g0114 a0036c0069t0020g0050 a0037c0053t0003g0070 a0038c0055t0003g0072 a0039c0054t0003g0071 a0040c0052t0024g0053 a0041c0061t0003g0068 a0042c0057t0003g0062 a0043c0056t0003g0060 a0044c0058t0003g0065 a0045c0060t0003g0067 a0046c0059t0003g0066 a0047c0062t0003g0069 a0049c0067t0021g0051 a0055c0071t0001g0077 a0056c0073t0001g0089 a0057c0072t0001g0088 a0058c0075t0002g0097 a0059c0074t0001g0096 a0060c0070t0015g0056 a0061c0042t0001g0134 a0062c0045t0001g0140 a0063c0047t0001g0142 a0064c0044t0001g0139 a0065c0043t0001g0126 a0066c0030t0007g0074	312	455	0.6857	0	c.105 others(4): Show c.1050T>G	p.Tyr others(4): Show p.Tyr350*	LILRB3	ENSG00000204577.12	transcript	ENST00000445347.2	protein_coding	6/13	1081/2742	1050/1896	350/631		chr19	TogoVar
LILRB3_chr19_54211278_54228007	54221872	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0003 a0010 others(16): Show a0001 a0003 a0010 a0012 a0016 a0019 a0020 a0024 a0037 a0038 a0040 a0049 a0052 a0055 a0056 a0057 a0058 a0059 a0060	a0001c0001 a0003c0002 a0010c0012 others(16): Show a0001c0001 a0003c0002 a0010c0012 a0012c0014 a0016c0020 a0019c0026 a0020c0025 a0024c0028 a0037c0053 a0038c0055 a0040c0052 a0049c0067 a0052c0049 a0055c0071 a0056c0073 a0057c0072 a0058c0075 a0059c0074 a0060c0070	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0032 a0001c0001t0034 a0003c0002t0001 a0003c0002t0002 a0003c0002t0016 a0003c0002t0017 a0003c0002t0027 a0003c0002t0028 a0010c0012t0003 a0012c0014t0002 a0016c0020t0012 a0019c0026t0003 a0020c0025t0003 a0024c0028t0015 a0024c0028t0022 a0037c0053t0003 a0038c0055t0003 a0040c0052t0024 a0049c0067t0021 a0052c0049t0004 a0055c0071t0001 a0056c0073t0001 a0057c0072t0001 a0058c0075t0002 a0059c0074t0001 a0060c0070t0015	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0079 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0002g0023 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0005g0016 a0001c0001t0005g0024 a0001c0001t0005g0087 a0001c0001t0010g0086 a0001c0001t0010g0093 a0001c0001t0018g0037 a0001c0001t0025g0094 a0001c0001t0026g0078 a0001c0001t0032g0090 a0001c0001t0034g0080 a0003c0002t0001g0103 a0003c0002t0002g0002 a0003c0002t0002g0039 a0003c0002t0002g0040 a0003c0002t0002g0041 a0003c0002t0002g0043 a0003c0002t0002g0102 a0003c0002t0002g0106 a0003c0002t0016g0098 a0003c0002t0016g0100 a0003c0002t0017g0042 a0003c0002t0027g0099 a0003c0002t0028g0101 a0010c0012t0003g0011 a0012c0014t0002g0015 a0016c0020t0012g0032 a0016c0020t0012g0052 a0019c0026t0003g0054 a0019c0026t0003g0055 a0020c0025t0003g0035 a0024c0028t0015g0057 a0024c0028t0022g0058 a0037c0053t0003g0070 a0038c0055t0003g0072 a0040c0052t0024g0053 a0049c0067t0021g0051 a0052c0049t0004g0047 a0055c0071t0001g0077 a0056c0073t0001g0089 a0057c0072t0001g0088 a0058c0075t0002g0097 a0059c0074t0001g0096 a0060c0070t0015g0056	196	455	0.4308	0	c.614 others(3): Show c.614G>A	p.Trp others(4): Show p.Trp205*	LILRB3	ENSG00000204577.12	transcript	ENST00000445347.2	protein_coding	4/13	645/2742	614/1896	205/631		chr19	TogoVar
LOC101059915_chrX_71662546_71676527	71667932	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0007 a0009c0019t0007	a0009c0019t0007g0001 a0009c0019t0007g0001	1	340	0.0029	1	c.135 others(4): Show c.135dupG	p.Gln others(4): Show p.Gln46fs	LOC101059915	ENSG00000283599.3	transcript	ENST00000636096.3	protein_coding	1/6	394/1990	136/1557	46/518	INFO_REALIGN_3_PRIME	chrX	TogoVar
LOC101059915_chrX_71662546_71676527	71668399	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0007 a0009c0019t0007	a0009c0019t0007g0001 a0009c0019t0007g0001	1	340	0.0029	1	c.600 others(4): Show c.600dupC	p.Ala others(5): Show p.Ala201fs	LOC101059915	ENSG00000283599.3	transcript	ENST00000636096.3	protein_coding	1/6	859/1990	601/1557	201/518	INFO_REALIGN_3_PRIME	chrX	TogoVar
LOXL4_chr10_98242690_98273194	98256880	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG02055.hp1 HG02970.hp1 others(5): Show HG00597.hp2 HG02055.hp1 HG02970.hp1 HG04199.hp1 NA18963.hp1 NA18972.hp1 NA18975.hp2 NA19006.hp1	a0005 a0006 a0017 a0005 a0006 a0017	a0005c0007 a0006c0017 a0006c0018 others(2): Show a0005c0007 a0006c0017 a0006c0018 a0006c0020 a0017c0027	a0005c0007t0001 a0006c0017t0001 a0006c0018t0001 others(2): Show a0005c0007t0001 a0006c0017t0001 a0006c0018t0001 a0006c0020t0001 a0017c0027t0001	a0005c0007t0001g0131 a0005c0007t0001g0154 a0005c0007t0001g0159 others(5): Show a0005c0007t0001g0131 a0005c0007t0001g0154 a0005c0007t0001g0159 a0005c0007t0001g0160 a0006c0017t0001g0113 a0006c0018t0001g0106 a0006c0020t0001g0124 a0017c0027t0001g0132	8	438	0.0183	1	c.132 others(5): Show c.1327dupG	p.Val others(5): Show p.Val443fs	LOXL4	ENSG00000138131.4	transcript	ENST00000260702.4	protein_coding	9/15	1422/3597	1327/2271	443/756		chr10	TogoVar
MAGEB3_chrX_30225657_30242495	30232727	TGCGCCAC others(425): Show TGCGCCACTGCACTCCCGCCTGGGTGACAGAGAGAGACTCCATCTCAAAA TAAGTAAATAAATAAATAAATATAAACTTTTTTTTATTTTTTATTTTAAG GCAGGGCTGTGGCTCACGCTTGTAATCCCAACATTTTGGGCGGAGGAAGC CAGCCTCATCGCTTAAGCACAGGAGTTCGCGGACTGGGAGGTGAGCTGCC CCTGTAGTCCCAGCTACCCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCC CTAGGAGTCAAGGCTGCAGTGAGCCAAGGTCACGCCACTGCGCTCCAGCC TGGGCGACAGAGAGAGACACTGTCTCAAATTAGCCGGGCGTGGTGGGGCA CAGGTGTAGTCCCAGCTATTCGGGAGGTGGAGGCAGGAGAATCCCTTGAA CCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATC	T T	splice_acceptor_variant others(5): Show splice_acceptor_variant splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	NA18954.hp2 NA19006.hp1 NA19078.hp2 NA18954.hp2 NA19006.hp1 NA19078.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0035 a0003c0003t0006g0097 a0003c0003t0006g0035 a0003c0003t0006g0097	3	338	0.0089	-432	c.-25 others(15): Show c.-253-68_-163-72del		MAGEB3	ENSG00000198798.6	transcript	ENST00000361644.4	protein_coding	3/5				INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGED4_chrX_52179888_52197268	52186845	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0019 a0010c0015t0001g0019	1	220	0.0046	1	c.661 others(4): Show c.661dupG	p.Asp others(5): Show p.Asp221fs	MAGED4	ENSG00000154545.17	transcript	ENST00000471932.6	protein_coding	3/13	771/2537	662/2226	221/741	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEE2_chrX_75777987_75790254	75784694	C C	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00609.hp1 HG00621.hp1 others(120): Show HG00280.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01168.hp1 HG01169.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02273.hp2 HG02280.hp2 HG02683.hp2 HG02735.hp1 HG03239.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA20300.hp1 NA20905.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0002 a0002c0003 a0002c0010 others(3): Show a0002c0002 a0002c0003 a0002c0010 a0002c0011 a0003c0006 a0007c0005	a0002c0002t0001 a0002c0003t0001 a0002c0010t0001 others(3): Show a0002c0002t0001 a0002c0003t0001 a0002c0010t0001 a0002c0011t0001 a0003c0006t0001 a0007c0005t0002	a0002c0002t0001g0000 a0002c0003t0001g0000 a0002c0010t0001g0000 others(3): Show a0002c0002t0001g0000 a0002c0003t0001g0000 a0002c0010t0001g0000 a0002c0011t0001g0000 a0003c0006t0001g0000 a0007c0005t0002g0000	123	277	0.4440	0	c.358 others(3): Show c.358G>T	p.Glu others(4): Show p.Glu120*	MAGEE2	ENSG00000186675.7	transcript	ENST00000373359.4	protein_coding	1/1	561/2268	358/1572	120/523		chrX	TogoVar
MDP1_chr14_24208943_24221066	24214060	CA CA	C C	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00423.hp1 others(92): Show HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01346.hp2 HG01361.hp1 HG01884.hp1 HG01891.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03579.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp2 NA18947.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18989.hp1 NA18994.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19006.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19072.hp1 NA19077.hp1 NA19082.hp1 NA19086.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0004 a0004c0005 a0002c0002 a0002c0004 a0004c0005	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0004c0005t0004	a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0009 others(11): Show a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0028 a0002c0002t0002g0011 a0002c0004t0001g0030 a0004c0005t0004g0023	95	404	0.2352	-1	c.494 others(4): Show c.494delT	p.Leu others(5): Show p.Leu165fs	MDP1	ENSG00000213920.9	transcript	ENST00000288087.12	protein_coding	6/6	605/723	494/531	165/176		chr14	TogoVar
MICA_chr6_31398595_31420315	31412384	G G	GCT GCT	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00438.hp1 HG00621.hp1 others(110): Show HG00423.hp1 HG00438.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp2 NA18954.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp2 NA18968.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19006.hp2 NA19009.hp2 NA19054.hp1 NA19059.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0000 a0000	a0000c0002 a0000c0004 a0000c0014 others(2): Show a0000c0002 a0000c0004 a0000c0014 a0000c0017 a0000c0027	a0000c0002t0001 a0000c0002t0006 a0000c0004t0001 others(4): Show a0000c0002t0001 a0000c0002t0006 a0000c0004t0001 a0000c0004t0007 a0000c0014t0001 a0000c0017t0008 a0000c0027t0008	a0000c0002t0001g0001 a0000c0002t0001g0012 a0000c0002t0001g0020 others(34): Show a0000c0002t0001g0001 a0000c0002t0001g0012 a0000c0002t0001g0020 a0000c0002t0001g0022 a0000c0002t0001g0040 a0000c0002t0001g0063 a0000c0002t0001g0064 a0000c0002t0001g0065 a0000c0002t0001g0094 a0000c0002t0001g0095 a0000c0002t0006g0001 a0000c0004t0001g0003 a0000c0004t0001g0033 a0000c0004t0001g0034 a0000c0004t0001g0045 a0000c0004t0001g0046 a0000c0004t0001g0047 a0000c0004t0001g0048 a0000c0004t0001g0082 a0000c0004t0001g0083 a0000c0004t0001g0084 a0000c0004t0001g0085 a0000c0004t0001g0087 a0000c0004t0001g0088 a0000c0004t0001g0089 a0000c0004t0001g0090 a0000c0004t0001g0091 a0000c0004t0007g0003 a0000c0004t0007g0033 a0000c0004t0007g0034 a0000c0004t0007g0086 a0000c0004t0007g0105 a0000c0014t0001g0023 a0000c0014t0001g0066 a0000c0017t0008g0059 a0000c0017t0008g0113 a0000c0027t0008g0116	113	439	0.2574	2	c.952 others(9): Show c.952_953insCT	p.Gly others(5): Show p.Gly318fs	MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding	5/6	991/1370	953/999	318/332		chr6	TogoVar
MICA_chr6_31398595_31420315	31412384	G G	GCTGCTGC others(4): Show GCTGCTGCTGCT	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00642.hp1 HG00741.hp1 others(83): Show HG00140.hp2 HG00642.hp1 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02630.hp1 HG02717.hp1 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03486.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18959.hp1 NA18964.hp2 NA18966.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19058.hp1 NA19065.hp1 NA19072.hp2 NA19081.hp2 NA19087.hp1 NA19090.hp1 NA20300.hp1	a0000 a0000	a0000c0001 a0000c0011 a0000c0013 others(3): Show a0000c0001 a0000c0011 a0000c0013 a0000c0018 a0000c0025 a0000c0026	a0000c0001t0002 a0000c0001t0003 a0000c0011t0003 others(4): Show a0000c0001t0002 a0000c0001t0003 a0000c0011t0003 a0000c0013t0003 a0000c0018t0003 a0000c0025t0003 a0000c0026t0003	a0000c0001t0002g0029 a0000c0001t0003g0006 a0000c0001t0003g0009 others(21): Show a0000c0001t0002g0029 a0000c0001t0003g0006 a0000c0001t0003g0009 a0000c0001t0003g0010 a0000c0001t0003g0016 a0000c0001t0003g0038 a0000c0001t0003g0039 a0000c0001t0003g0041 a0000c0001t0003g0042 a0000c0001t0003g0061 a0000c0001t0003g0070 a0000c0001t0003g0111 a0000c0001t0003g0117 a0000c0001t0003g0118 a0000c0001t0003g0119 a0000c0001t0003g0120 a0000c0001t0003g0121 a0000c0001t0003g0122 a0000c0011t0003g0013 a0000c0013t0003g0024 a0000c0013t0003g0112 a0000c0018t0003g0016 a0000c0025t0003g0006 a0000c0026t0003g0016	86	439	0.1959	11	c.952 others(18): Show c.952_953insCTGCTGCTGCT	p.Gly others(5): Show p.Gly318fs	MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding	5/6	991/1370	953/999	318/332		chr6	TogoVar
MSL3_chrX_11753237_11780772	11775025	T T	A A	stop_gained stop_gained	HIGH	NA19006.hp1 NA19006.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0051 a0004c0006t0003g0051	1	297	0.0034	0	c.151 others(4): Show c.1512T>A	p.Tyr others(4): Show p.Tyr504*	MSL3	ENSG00000005302.19	transcript	ENST00000312196.10	protein_coding	13/13	1539/2286	1512/1566	504/521		chrX	TogoVar
MTM1_chrX_150563621_150678143	150663514	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0038	1	277	0.0036	-1	c.155 others(5): Show c.1552delA	p.Ile others(5): Show p.Ile518fs	MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	14/15	1604/3412	1552/1812	518/603	INFO_REALIGN_3_PRIME	chrX	TogoVar
MUC20_chr3_195715978_195738551	195726146	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG01070.hp2 HG01516.hp2 HG01978.hp1 others(2): Show HG01070.hp2 HG01516.hp2 HG01978.hp1 NA19006.hp1 NA19011.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0042 a0007c0009t0002g0046 a0007c0009t0002g0050 others(2): Show a0007c0009t0002g0042 a0007c0009t0002g0046 a0007c0009t0002g0050 a0007c0009t0002g0051 a0007c0009t0002g0053	5	185	0.0270	-1	c.154 others(5): Show c.1545delC	p.Thr others(5): Show p.Thr516fs	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	1575/2493	1545/2130	515/709	INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC22_chr6_31005474_31040402	31027337	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG00609.hp2 HG00673.hp1 others(38): Show HG00597.hp2 HG00609.hp2 HG00673.hp1 HG01891.hp2 HG02055.hp1 HG02056.hp1 HG02132.hp1 HG02135.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02717.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03471.hp2 NA18941.hp2 NA18943.hp1 NA18951.hp1 NA18953.hp1 NA18966.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18983.hp2 NA18986.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA19004.hp1 NA19006.hp1 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19081.hp2 NA19082.hp2 NA19088.hp2 NA19090.hp2	a0006 a0011 a0022 others(8): Show a0006 a0011 a0022 a0045 a0087 a0092 a0098 a0100 a0108 a0113 a0126	a0006c0005 a0006c0024 a0006c0093 others(12): Show a0006c0005 a0006c0024 a0006c0093 a0011c0016 a0022c0036 a0022c0150 a0045c0152 a0045c0153 a0087c0109 a0092c0141 a0098c0104 a0100c0103 a0108c0102 a0113c0097 a0126c0127	a0006c0005t0001 a0006c0024t0001 a0006c0093t0001 others(12): Show a0006c0005t0001 a0006c0024t0001 a0006c0093t0001 a0011c0016t0001 a0022c0036t0002 a0022c0150t0002 a0045c0152t0001 a0045c0153t0002 a0087c0109t0001 a0092c0141t0001 a0098c0104t0001 a0100c0103t0001 a0108c0102t0001 a0113c0097t0001 a0126c0127t0001	a0006c0005t0001g0001 a0006c0005t0001g0124 a0006c0005t0001g0213 others(17): Show a0006c0005t0001g0001 a0006c0005t0001g0124 a0006c0005t0001g0213 a0006c0005t0001g0233 a0006c0005t0001g0239 a0006c0005t0001g0243 a0006c0024t0001g0001 a0006c0093t0001g0001 a0011c0016t0001g0008 a0022c0036t0002g0001 a0022c0150t0002g0232 a0045c0152t0001g0170 a0045c0153t0002g0167 a0087c0109t0001g0140 a0092c0141t0001g0001 a0098c0104t0001g0001 a0100c0103t0001g0001 a0108c0102t0001g0070 a0113c0097t0001g0235 a0126c0127t0001g0111	41	461	0.0889	-1	c.190 others(5): Show c.1908delC	p.Thr others(5): Show p.Thr637fs	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	2/4	2141/6019	1908/5322	636/1773	INFO_REALIGN_3_PRIME	chr6	TogoVar
NAA10_chrX_153924225_153940037	153932544	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0017 a0003c0002t0004g0017	1	292	0.0034	1	c.219 others(4): Show c.219dupC	p.Ser others(4): Show p.Ser74fs	NAA10	ENSG00000102030.16	transcript	ENST00000464845.6	protein_coding	4/8	352/1603	219/708	73/235		chrX	TogoVar
NAA10_chrX_153924225_153940037	153932554	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0017 a0003c0002t0004g0017	1	292	0.0034	1	c.209 others(4): Show c.209dupG	p.His others(4): Show p.His71fs	NAA10	ENSG00000102030.16	transcript	ENST00000464845.6	protein_coding	4/8	342/1603	209/708	70/235		chrX	TogoVar
NAA10_chrX_153924225_153940037	153932582	TC TC	T T	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0017 a0003c0002t0004g0017	1	292	0.0034	-1	c.181 others(4): Show c.181delG	p.Glu others(4): Show p.Glu61fs	NAA10	ENSG00000102030.16	transcript	ENST00000464845.6	protein_coding	4/8	314/1603	181/708	61/235		chrX	TogoVar
NAA10_chrX_153924225_153940037	153934882	A A	AC AC	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0017 a0003c0002t0004g0017	1	292	0.0034	1	c.21+ others(5): Show c.21+1dupG		NAA10	ENSG00000102030.16	transcript	ENST00000464845.6	protein_coding	1/7					chrX	TogoVar
NAA10_chrX_153924225_153940037	153934890	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0017 a0003c0002t0004g0017	1	292	0.0034	1	c.14d others(3): Show c.14dupA	p.Asn others(3): Show p.Asn5fs	NAA10	ENSG00000102030.16	transcript	ENST00000464845.6	protein_coding	1/8	147/1603	14/708	5/235		chrX	TogoVar
NACA2_chr17_61585421_61596219	61590592	G G	A A	stop_gained stop_gained	HIGH	HG00140.hp2 HG00408.hp2 HG00642.hp2 others(51): Show HG00140.hp2 HG00408.hp2 HG00642.hp2 HG00733.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01515.hp2 HG01517.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02155.hp2 HG02280.hp1 HG02293.hp1 HG02622.hp1 HG02735.hp1 HG02738.hp2 HG03017.hp1 HG03490.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18952.hp1 NA18968.hp2 NA18985.hp1 NA18986.hp1 NA19002.hp1 NA19006.hp2 NA19060.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0007 a0002c0002 a0007c0007	a0002c0002t0001 a0007c0007t0001 a0002c0002t0001 a0007c0007t0001	a0002c0002t0001g0000 a0007c0007t0001g0000 a0002c0002t0001g0000 a0007c0007t0001g0000	54	400	0.1350	0	c.589 others(3): Show c.589C>T	p.Arg others(4): Show p.Arg197*	NACA2	ENSG00000253506.3	transcript	ENST00000521764.3	protein_coding	1/1	628/799	589/648	197/215		chr17	TogoVar
NANOS1_chr10_119024714_119038730	119029847	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00621.hp2 HG01081.hp2 HG01099.hp1 others(25): Show HG00621.hp2 HG01081.hp2 HG01099.hp1 HG01175.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02135.hp2 HG02258.hp1 HG02293.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03669.hp2 HG03942.hp2 HG04115.hp1 NA18980.hp2 NA18987.hp2 NA18991.hp2 NA19006.hp2 NA19055.hp2 NA19060.hp1 NA19072.hp1	a0000 a0000	a0000c0002 a0000c0007 a0000c0002 a0000c0007	a0000c0002t0001 a0000c0002t0002 a0000c0002t0004 others(3): Show a0000c0002t0001 a0000c0002t0002 a0000c0002t0004 a0000c0002t0016 a0000c0002t0021 a0000c0007t0001	a0000c0002t0001g0000 a0000c0002t0002g0000 a0000c0002t0004g0000 others(3): Show a0000c0002t0001g0000 a0000c0002t0002g0000 a0000c0002t0004g0000 a0000c0002t0016g0000 a0000c0002t0021g0000 a0000c0007t0001g0000	28	404	0.0693	1	c.53d others(3): Show c.53dupC	p.Pro others(4): Show p.Pro19fs	NANOS1	ENSG00000188613.7	transcript	ENST00000425699.3	protein_coding	1/1	142/4017	54/879	18/292	INFO_REALIGN_3_PRIME	chr10	TogoVar
NAP1L3_chrX_93665930_93678578	93671799	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0008 a0007c0008t0008	a0007c0008t0008g0000 a0007c0008t0008g0000	1	338	0.0030	-1	c.150 others(5): Show c.1505delA	p.Lys others(5): Show p.Lys502fs	NAP1L3	ENSG00000186310.10	transcript	ENST00000373079.4	protein_coding	1/1	1779/2649	1505/1521	502/506		chrX	TogoVar
NAP1L3_chrX_93665930_93678578	93672271	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0008 a0007c0008t0008	a0007c0008t0008g0000 a0007c0008t0008g0000	1	338	0.0030	1	c.103 others(5): Show c.1033dupC	p.Leu others(5): Show p.Leu345fs	NAP1L3	ENSG00000186310.10	transcript	ENST00000373079.4	protein_coding	1/1	1307/2649	1033/1521	345/506		chrX	TogoVar
NAP1L3_chrX_93665930_93678578	93672333	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0008 a0007c0008t0008	a0007c0008t0008g0000 a0007c0008t0008g0000	1	338	0.0030	-1	c.971 others(4): Show c.971delA	p.Lys others(5): Show p.Lys324fs	NAP1L3	ENSG00000186310.10	transcript	ENST00000373079.4	protein_coding	1/1	1245/2649	971/1521	324/506		chrX	TogoVar
NAP1L3_chrX_93665930_93678578	93672452	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0008 a0007c0008t0008	a0007c0008t0008g0000 a0007c0008t0008g0000	1	338	0.0030	1	c.852 others(4): Show c.852dupT	p.Pro others(5): Show p.Pro285fs	NAP1L3	ENSG00000186310.10	transcript	ENST00000373079.4	protein_coding	1/1	1126/2649	852/1521	284/506		chrX	TogoVar
NAP1L3_chrX_93665930_93678578	93672586	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0008 a0007c0008t0008	a0007c0008t0008g0000 a0007c0008t0008g0000	1	338	0.0030	1	c.718 others(4): Show c.718dupG	p.Asp others(5): Show p.Asp240fs	NAP1L3	ENSG00000186310.10	transcript	ENST00000373079.4	protein_coding	1/1	992/2649	718/1521	240/506		chrX	TogoVar
NAP1L3_chrX_93665930_93678578	93672591	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0008 a0007c0008t0008	a0007c0008t0008g0000 a0007c0008t0008g0000	1	338	0.0030	1	c.713 others(4): Show c.713dupC	p.Lys others(5): Show p.Lys239fs	NAP1L3	ENSG00000186310.10	transcript	ENST00000373079.4	protein_coding	1/1	987/2649	713/1521	238/506		chrX	TogoVar
NAP1L3_chrX_93665930_93678578	93672713	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0008 a0007c0008t0008	a0007c0008t0008g0000 a0007c0008t0008g0000	1	338	0.0030	-1	c.591 others(4): Show c.591delA	p.Glu others(5): Show p.Glu198fs	NAP1L3	ENSG00000186310.10	transcript	ENST00000373079.4	protein_coding	1/1	865/2649	591/1521	197/506		chrX	TogoVar
NCOA1_chr2_24486254_24775702	24758059	G G	GGAAAAGA others(35): Show GGAAAAGATATATTGGAAATTTGTATGTATAGAATTTATATTC	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0149 a0003c0009t0001g0149	1	314	0.0032	42	c.396 others(51): Show c.3968_3969insGAAAAGATATATTGGAAATTTGTATGTATAGAATTT ATATTC	p.Gly others(57): Show p.Gly1323_Gly1324insLysArgTyrIleGlyAsnLeuTyrValTer AsnLeuTyrSer	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	21/23	4713/7381	3969/4326	1323/1441		chr2	TogoVar
NKAP_chrX_119915672_119948751	119943267	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0013 a0010c0011t0013	a0010c0011t0013g0033 a0010c0011t0013g0033	1	320	0.0031	-1	c.338 others(4): Show c.338delC	p.Pro others(5): Show p.Pro113fs	NKAP	ENSG00000101882.10	transcript	ENST00000371410.5	protein_coding	1/9	484/5942	338/1248	113/415		chrX	TogoVar
NKAP_chrX_119915672_119948751	119943356	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0013 a0010c0011t0013	a0010c0011t0013g0033 a0010c0011t0013g0033	1	320	0.0031	1	c.249 others(4): Show c.249dupG	p.Pro others(4): Show p.Pro84fs	NKAP	ENSG00000101882.10	transcript	ENST00000371410.5	protein_coding	1/9	395/5942	249/1248	83/415		chrX	TogoVar
NKAP_chrX_119915672_119948751	119943451	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0013 a0010c0011t0013	a0010c0011t0013g0033 a0010c0011t0013g0033	1	320	0.0031	-1	c.154 others(4): Show c.154delG	p.Asp others(4): Show p.Asp52fs	NKAP	ENSG00000101882.10	transcript	ENST00000371410.5	protein_coding	1/9	300/5942	154/1248	52/415		chrX	TogoVar
NKAP_chrX_119915672_119948751	119943472	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0013 a0010c0011t0013	a0010c0011t0013g0033 a0010c0011t0013g0033	1	320	0.0031	1	c.133 others(4): Show c.133dupC	p.His others(4): Show p.His45fs	NKAP	ENSG00000101882.10	transcript	ENST00000371410.5	protein_coding	1/9	279/5942	133/1248	45/415		chrX	TogoVar
NLGN3_chrX_71139841_71176201	71167098	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0008 a0008c0007t0008	a0008c0007t0008g0052 a0008c0007t0008g0052	1	278	0.0036	-1	c.100 others(5): Show c.1003delG	p.Ala others(5): Show p.Ala335fs	NLGN3	ENSG00000196338.15	transcript	ENST00000358741.4	protein_coding	7/8	1327/3975	1003/2547	335/848	INFO_REALIGN_3_PRIME	chrX	TogoVar
NLGN3_chrX_71139841_71176201	71167437	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0008 a0008c0007t0008	a0008c0007t0008g0052 a0008c0007t0008g0052	1	278	0.0036	1	c.134 others(5): Show c.1342dupG	p.Asp others(5): Show p.Asp448fs	NLGN3	ENSG00000196338.15	transcript	ENST00000358741.4	protein_coding	7/8	1667/3975	1343/2547	448/848	INFO_REALIGN_3_PRIME	chrX	TogoVar
NLGN3_chrX_71139841_71176201	71167459	CA CA	C C	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0008 a0008c0007t0008	a0008c0007t0008g0052 a0008c0007t0008g0052	1	278	0.0036	-1	c.136 others(5): Show c.1364delA	p.Lys others(5): Show p.Lys455fs	NLGN3	ENSG00000196338.15	transcript	ENST00000358741.4	protein_coding	7/8	1688/3975	1364/2547	455/848	INFO_REALIGN_3_PRIME	chrX	TogoVar
NLGN3_chrX_71139841_71176201	71167580	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0008 a0008c0007t0008	a0008c0007t0008g0052 a0008c0007t0008g0052	1	278	0.0036	1	c.148 others(5): Show c.1486dupC	p.Arg others(5): Show p.Arg496fs	NLGN3	ENSG00000196338.15	transcript	ENST00000358741.4	protein_coding	7/8	1811/3975	1487/2547	496/848	INFO_REALIGN_3_PRIME	chrX	TogoVar

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