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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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
F8_chrX_154830792_155027723	154929709	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0032 a0010c0015t0001g0032	1	233	0.0043	1	c.408 others(5): Show c.4080dupC	p.Lys others(6): Show p.Lys1361fs	F8	ENSG00000185010.15	transcript	ENST00000360256.9	protein_coding	14/26	4251/9032	4080/7056	1360/2351		chrX	TogoVar
FADS6_chr17_74872302_74898633	74893515	A A	AGGTTCCA others(12): Show AGGTTCCATGGGCTCCGTAG	frameshift_variant frameshift_variant	HIGH	NA19076.hp2 NA19076.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0001 a0013c0019t0001	a0013c0019t0001g0077 a0013c0019t0001g0077	1	440	0.0023	19	c.62_ others(24): Show c.62_80dupCTACGGAGCCCATGGAACC	p.Thr others(4): Show p.Thr28fs	FADS6	ENSG00000172782.13	transcript	ENST00000612771.5	protein_coding	1/6	118/2174	80/1107	27/368		chr17	TogoVar
FAM166B_chr9_35556831_35568878	35562396	A A	ATAGT ATAGT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp1 HG00438.hp1 HG00558.hp2 others(84): Show HG00099.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01099.hp1 HG01891.hp2 HG01978.hp2 HG01993.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02148.hp1 HG02273.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02738.hp2 HG02976.hp2 HG03139.hp1 HG03225.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG06807.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18944.hp2 NA18947.hp1 NA18953.hp2 NA18954.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18976.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18999.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0003c0005 a0002c0003 a0003c0004 a0003c0005	a0002c0003t0001 a0002c0003t0002 a0003c0004t0001 others(1): Show a0002c0003t0001 a0002c0003t0002 a0003c0004t0001 a0003c0005t0001	a0002c0003t0001g0003 a0002c0003t0001g0015 a0002c0003t0001g0017 others(4): Show a0002c0003t0001g0003 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0002g0019 a0003c0004t0001g0006 a0003c0005t0001g0009	87	436	0.1995	4	c.719 others(11): Show c.719_722dupACTA	p.Tyr others(5): Show p.Tyr241fs	FAM166B	ENSG00000215187.13	transcript	ENST00000399742.7	protein_coding	5/6	772/1054	722/828	241/275		chr9	TogoVar
FAM86B1_chr8_12177106_12199082	12189807	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00323.hp2 HG00423.hp1 HG00558.hp2 others(52): Show HG00323.hp2 HG00423.hp1 HG00558.hp2 HG01069.hp1 HG01099.hp1 HG01346.hp2 HG01515.hp2 HG01975.hp1 HG02015.hp1 HG02300.hp1 HG02523.hp2 HG02735.hp2 HG03139.hp1 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 NA18940.hp2 NA18945.hp1 NA18947.hp2 NA18959.hp1 NA18961.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18984.hp1 NA18985.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19082.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0005 a0001c0015 others(4): Show a0001c0001 a0001c0005 a0001c0015 a0001c0023 a0002c0017 a0007c0016 a0007c0020	a0001c0001t0002 a0001c0005t0002 a0001c0005t0013 others(7): Show a0001c0001t0002 a0001c0005t0002 a0001c0005t0013 a0001c0005t0016 a0001c0005t0017 a0001c0015t0007 a0001c0023t0001 a0002c0017t0002 a0007c0016t0002 a0007c0020t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 others(39): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0036 a0001c0001t0002g0048 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0141 a0001c0005t0002g0018 a0001c0005t0002g0074 a0001c0005t0002g0110 a0001c0005t0002g0111 a0001c0005t0002g0112 a0001c0005t0002g0118 a0001c0005t0002g0120 a0001c0005t0013g0077 a0001c0005t0016g0109 a0001c0005t0017g0107 a0001c0015t0007g0010 a0001c0023t0001g0072 a0002c0017t0002g0039 a0002c0017t0002g0121 a0007c0016t0002g0073 a0007c0020t0002g0079	55	176	0.3125	0	c.240 others(5): Show c.240+1G>A		FAM86B1	ENSG00000186523.15	transcript	ENST00000448228.7	protein_coding	3/6					chr8	TogoVar
FCRL1_chr1_157789403_157825120	157801578	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0138 a0001c0002t0002g0138	1	406	0.0025	0	c.887 others(5): Show c.887-1G>A		FCRL1	ENSG00000163534.15	transcript	ENST00000368176.8	protein_coding	5/10					chr1	TogoVar
FRMPD4_chrX_12133473_12729523	12716298	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0121 a0007c0016t0001g0121	1	174	0.0058	-1	c.184 others(5): Show c.1843delG	p.Glu others(5): Show p.Glu615fs	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	15/17	2342/8453	1843/5289	615/1762	INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12716670	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0121 a0007c0016t0001g0121	1	174	0.0058	1	c.221 others(5): Show c.2212dupG	p.Asp others(5): Show p.Asp738fs	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	15/17	2712/8453	2213/5289	738/1762	INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12716686	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0121 a0007c0016t0001g0121	1	174	0.0058	-1	c.223 others(5): Show c.2231delA	p.Asn others(5): Show p.Asn744fs	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	15/17	2730/8453	2231/5289	744/1762	INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12716711	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0121 a0007c0016t0001g0121	1	174	0.0058	1	c.225 others(5): Show c.2254dupG	p.Asp others(5): Show p.Asp752fs	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	15/17	2754/8453	2255/5289	752/1762	INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12716715	CGA CGA	C C	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0121 a0007c0016t0001g0121	1	174	0.0058	-2	c.225 others(11): Show c.2258_2259delAG	p.Glu others(5): Show p.Glu753fs	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	15/17	2757/8453	2258/5289	753/1762	INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12716725	T T	TGA TGA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0121 a0007c0016t0001g0121	1	174	0.0058	2	c.226 others(11): Show c.2267_2268insAG	p.Cys others(5): Show p.Cys756fs	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	15/17	2767/8453	2268/5289	756/1762	INFO_REALIGN_3_PRIME	chrX	TogoVar
G6PD_chrX_154526391_154551846	154532709	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0088 a0007c0010t0006g0088	1	285	0.0035	1	c.114 others(5): Show c.1144dupC	p.His others(5): Show p.His382fs	G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding	10/13	1210/2223	1144/1548	382/515		chrX	TogoVar
G6PD_chrX_154526391_154551846	154532787	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0088 a0007c0010t0006g0088	1	285	0.0035	-1	c.106 others(5): Show c.1066delC	p.Leu others(5): Show p.Leu356fs	G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding	10/13	1132/2223	1066/1548	356/515		chrX	TogoVar
G6PD_chrX_154526391_154551846	154533597	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0088 a0007c0010t0006g0088	1	285	0.0035	1	c.842 others(4): Show c.842dupC	p.Asp others(5): Show p.Asp282fs	G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding	8/13	908/2223	842/1548	281/515		chrX	TogoVar
G6PD_chrX_154526391_154551846	154533651	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0088 a0007c0010t0006g0088	1	285	0.0035	1	c.788 others(4): Show c.788dupA	p.His others(5): Show p.His263fs	G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding	8/13	854/2223	788/1548	263/515		chrX	TogoVar
G6PD_chrX_154526391_154551846	154534091	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0088 a0007c0010t0006g0088	1	285	0.0035	-1	c.713 others(4): Show c.713delA	p.Lys others(5): Show p.Lys238fs	G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding	7/13	779/2223	713/1548	238/515		chrX	TogoVar
G6PD_chrX_154526391_154551846	154534125	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0088 a0007c0010t0006g0088	1	285	0.0035	1	c.679 others(4): Show c.679dupC	p.Arg others(5): Show p.Arg227fs	G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding	7/13	745/2223	679/1548	227/515		chrX	TogoVar
G6PD_chrX_154526391_154551846	154534135	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0088 a0007c0010t0006g0088	1	285	0.0035	1	c.669 others(4): Show c.669dupC	p.Ile others(5): Show p.Ile224fs	G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding	7/13	735/2223	669/1548	223/515		chrX	TogoVar
G6PD_chrX_154526391_154551846	154534401	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0088 a0007c0010t0006g0088	1	285	0.0035	1	c.580 others(4): Show c.580dupG	p.Asp others(5): Show p.Asp194fs	G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding	6/13	646/2223	580/1548	194/515		chrX	TogoVar
G6PD_chrX_154526391_154551846	154534468	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0088 a0007c0010t0006g0088	1	285	0.0035	1	c.513 others(4): Show c.513dupG	p.Pro others(5): Show p.Pro172fs	G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding	6/13	579/2223	513/1548	171/515		chrX	TogoVar
G6PD_chrX_154526391_154551846	154535246	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0088 a0007c0010t0006g0088	1	285	0.0035	-1	c.406 others(4): Show c.406delC	p.Arg others(5): Show p.Arg136fs	G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding	5/13	472/2223	406/1548	136/515		chrX	TogoVar
G6PD_chrX_154526391_154551846	154535274	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0088 a0007c0010t0006g0088	1	285	0.0035	1	c.378 others(4): Show c.378dupT	p.Ala others(5): Show p.Ala127fs	G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding	5/13	444/2223	378/1548	126/515		chrX	TogoVar
G6PD_chrX_154526391_154551846	154535337	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0088 a0007c0010t0006g0088	1	285	0.0035	1	c.315 others(4): Show c.315dupC	p.Ser others(5): Show p.Ser106fs	G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding	5/13	381/2223	315/1548	105/515		chrX	TogoVar
G6PD_chrX_154526391_154551846	154535935	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0088 a0007c0010t0006g0088	1	285	0.0035	0	c.267 others(5): Show c.267+2T>G		G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding	4/12					chrX	TogoVar
G6PD_chrX_154526391_154551846	154535983	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0088 a0007c0010t0006g0088	1	285	0.0035	1	c.220 others(8): Show c.220_221insA	p.Arg others(4): Show p.Arg74fs	G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding	4/13	286/2223	220/1548	74/515		chrX	TogoVar
G6PD_chrX_154526391_154551846	154536043	C C	CCA CCA	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0088 a0007c0010t0006g0088	1	285	0.0035	2	c.160 others(9): Show c.160_161insTG	p.Trp others(4): Show p.Trp54fs	G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding	4/13	226/2223	160/1548	54/515		chrX	TogoVar
GAB4_chr22_16956936_17013222	16988159	C C	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00544.hp2 HG00558.hp2 others(145): Show HG00280.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG03098.hp1 HG03139.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19076.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0008 a0002c0013 others(5): Show a0002c0002 a0002c0008 a0002c0013 a0002c0014 a0002c0017 a0002c0021 a0002c0022 a0005c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0008t0001 a0002c0013t0005 a0002c0014t0001 a0002c0014t0003 a0002c0017t0001 a0002c0021t0001 a0002c0022t0001 a0005c0011t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0007 others(74): Show a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0157 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0209 a0002c0002t0002g0170 a0002c0002t0002g0175 a0002c0002t0004g0155 a0002c0002t0004g0156 a0002c0002t0004g0158 a0002c0002t0004g0183 a0002c0002t0004g0201 a0002c0002t0007g0040 a0002c0002t0007g0065 a0002c0002t0007g0167 a0002c0008t0001g0045 a0002c0008t0001g0084 a0002c0008t0001g0085 a0002c0013t0005g0067 a0002c0014t0001g0159 a0002c0014t0003g0166 a0002c0017t0001g0076 a0002c0021t0001g0176 a0002c0022t0001g0178 a0005c0011t0001g0077 a0005c0011t0001g0078	148	430	0.3442	0	c.487 others(3): Show c.487G>T	p.Gly others(4): Show p.Gly163*	GAB4	ENSG00000215568.9	transcript	ENST00000400588.5	protein_coding	3/10	595/2630	487/1725	163/574		chr22	TogoVar
GBP3_chr1_89001680_89027866	89010225	GATTCTCC others(2709): Show GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCGCCTGCCA CCACGCTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATG TTGGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCTGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTAGTT AACTAGTATTTGAAAGACAGGGTCTGGCTCTGTTGCCCAGGCCAGAGTGC TGAGGTGCAATCTTGGCTCACTGAACCTCCCGGGCTCAAGCAATTCTCCT GCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCATGTGCAACAGTGCCCA GCTAATTTTTATATTCTTACTAGAGACATGTTTCACCATGTTGCTCAGGC TGGTCTTAAACTCCTGAGCTCAAGCAATCTGCCTGCCTCTGCCCTCAAAG TGTTAGGATTACAGGCTTGAGCCACCGCACCCGCCGACTGCACTCTCTTT GATGAGCACCTGGGACATACCTGATATAACAGTCTCCCTCCCTGCATATG TTATTGAATGAAAGCATGAATGTTATACAGACAAAAAAGCACATCTGTGT GCAGTGAAGCTTGGTCACTTTGGTGTTCGTAGGAGGTAGGTCAGCAGGTT TCCATAATCGACAGATGAATCTTGGTTACCTGTATCCCCTTCCTTGGTTC CTCATAGTACTTTTTCTCCAGGTCTTGTAGCTTCTGAATAAAGAGACAAT AGCCCCCTGGTTTCGAATAAATTCCCGCCTTCACTTCTTCTTCTAGAGGA CTGAAAATGACCTGAAGTAAAGCTGAGCAACGATCTGATGATGCTTCTTG ATTCTGTTTACAAAAGTCATCCCGCTTTTTGTCTAGCTGGGCCTTTAATG TAAAAATAGGAAGTAAAAAGAGTAACAGGGAAAGGATGTTAGCTTGACCT CAGAATTTTGGGAAAGACTTCCGAAAATAAACAGTCAATGATGCCGGAGA AACTGACAGACTCCTCAGCAGGACCACGCTCTTACTCCTGACCCCACTTT CTACTGAAATCGCTTTCTCTTTAGAGGTGAGGTTCAGGGCTGAGATTGAC AGCTTTATGTCAACTGTTAGAGGAAAGCTCTGCTTTTGCATATTGGACTA ATGATTTCATATGGAATAAATGTGGCTGAACAGAAGCCTGCTCAAGATAA CTAAGATGAAAATTTTCTTTGCATTTGGCTAGAATATCAAATCAGTCTGA GAAGAGTGGGCATGTAATTTGATTAGAAGCCCTGATTGTCAGTTATATGA ATTTAATAAAGGGAAGACCATTTATTGATAAGCAATGTTTTTAAACTTTG AGTCTGAAGTAATAAAATTGTTTTTGTCTGATTATTATGATTACCAAGAA CTAGTTGTCACCATTTTAAAATCTAGAATAATTATTTGTCTCAAAATAAA TACCAATTTCATTTCTTAGTAGTACTTTGCCTTCCAAAATCCAAATCCAT GTAAATGTGATAGAAAAATTACCGCTAATTTCTTTTGAAACAGATGGTCC ACATCCTTGAAAGAGTTCTTCATATAGACTTCAGTGGCCTCCCTCTCACT AACCCTGTGCAGGTCCAGCAGCTCCTGGAGGGTTTCTGCGGGCAGCTGCA CCTTCTGGCCCATCTGCTGGTCATAGTGGGCAATAGCCTTTTGCACTGCG GCTGAGTTCTCTATCTGGGCCAAGGCCAGGACTGCGTTCTCCATGCAGGG CAGATCCCCTCTGCTGATAGCATTGATATAGGTCAGCACTAGGCTCTCTA GACCTACATACAAAGAAGAAATGATAATGTTTCTTGTACTAAAGAAAACT CTCTATTCTGTGTAATTCTGAACATGTCAATTTCCACCTATTTTCCTCAC AGCATCAAGGTCCTCAGAATCATCTGGAAGCTTGCTGGAAATGCCTATTG TTAGCCTCTGTCCCAGATCTACTGAATTAGAGTTTTTTCTTTGGGTAAGA TCCCTAGATGATATGTATGCATATCAACATTTGAGAATCCTTGTTCTAGA TGACCTAGTCCTGTGTTAGTTGAATGTTTGCATCCATTTCAACCCCAAGC ACCATCAGGAAAGGAACCCATAGCTATTCCATATATGACTGTATCCTCAG CTTATTCACAGTAGCATTTGATCAATACTTATGGAACAAATGATACTCTC CTAATCAAAAGGAGCCCTCCGTTTGGTTTATTTTAGCACAGCATTGTCCA AGAAAACTTTCTGTAATGGTGGAAGTGTTCTGTATGTGCTGTTCAGTATG CTAGCCACTAAGTACATGTAAATATAAGCCTTTGAAATATAGCCATGTGA ATTGACCTTTAATTTTTCCTTATTTTAATTAATTTACATTTACATTTAGA TAGCCCCACTTGTCTAGTGGCTACTGTACTGTACAGTGCAGGCCCAGTTT ACTGTGGCAATTTTAAGTAATAAAACTTTTTTCCTTTGCTTTTCCTATCT TTTCCCACCAAGAAGGTTGACCAACAAAATCTATTAGAAATGTTGGTGTC ATCTAGAATTTAGCACAAATGTAGCAGTAGATTGGGATTTTTCAATGCTG ATACTAGGTGGAGTTATTCTATGCTCCTTTCATATTTTTTTTTTCCTCTG TCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGTCTCACTGCAACCTCTG CCTCCCAGGTTCAAGCA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(79): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01361.hp1 HG01884.hp2 HG01943.hp2 HG02056.hp2 HG02132.hp2 HG02135.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG03195.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18943.hp2 NA18944.hp1 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18965.hp2 NA18971.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA19004.hp2 NA19007.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19062.hp2 NA19067.hp2 NA19076.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0002 a0016 a0018 a0002 a0016 a0018	a0002c0002 a0016c0013 a0018c0020 a0002c0002 a0016c0013 a0018c0020	a0002c0002t0003 a0002c0002t0006 a0002c0002t0009 others(2): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0009 a0016c0013t0003 a0018c0020t0003	a0002c0002t0003g0013 a0002c0002t0003g0034 a0002c0002t0003g0035 others(67): Show a0002c0002t0003g0013 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0063 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0168 a0002c0002t0003g0169 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0173 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0003g0183 a0002c0002t0003g0184 a0002c0002t0003g0185 a0002c0002t0003g0186 a0002c0002t0003g0187 a0002c0002t0003g0188 a0002c0002t0003g0189 a0002c0002t0003g0190 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0195 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0003g0199 a0002c0002t0003g0200 a0002c0002t0003g0202 a0002c0002t0003g0203 a0002c0002t0003g0207 a0002c0002t0003g0208 a0002c0002t0003g0209 a0002c0002t0003g0210 a0002c0002t0003g0211 a0002c0002t0003g0212 a0002c0002t0003g0214 a0002c0002t0003g0215 a0002c0002t0003g0218 a0002c0002t0003g0220 a0002c0002t0003g0221 a0002c0002t0003g0224 a0002c0002t0006g0014 a0002c0002t0006g0040 a0002c0002t0006g0041 a0002c0002t0006g0167 a0002c0002t0006g0204 a0002c0002t0006g0213 a0002c0002t0006g0216 a0002c0002t0006g0217 a0002c0002t0009g0166 a0002c0002t0009g0206 a0002c0002t0009g0222 a0016c0013t0003g0201 a0018c0020t0003g0205	82	436	0.1881	-2716	c.868 others(16): Show c.868+244_1362+678del		GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	8/11					chr1	TogoVar
GLA_chrX_101392803_101412925	101397932	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0091 a0002c0003t0001g0091	1	318	0.0031	-1	c.116 others(5): Show c.1166delC	p.Pro others(5): Show p.Pro389fs	GLA	ENSG00000102393.15	transcript	ENST00000218516.4	protein_coding	7/7	1188/1318	1166/1290	389/429		chrX	TogoVar
GLA_chrX_101392803_101412925	101398077	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0091 a0002c0003t0001g0091	1	318	0.0031	1	c.102 others(5): Show c.1021dupG	p.Glu others(5): Show p.Glu341fs	GLA	ENSG00000102393.15	transcript	ENST00000218516.4	protein_coding	7/7	1043/1318	1021/1290	341/429		chrX	TogoVar
GOLGA6L26_chr15_23319535_23339196	23334076	A A	AGGGAGGT others(48): Show AGGGAGGTGGGGATGGGTAGGGACGTGGGGATGGGTAGGGAGGTGGGGAT GGGTAG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0051 a0051	a0051c0023 a0051c0023	a0051c0023t0004 a0051c0023t0004	a0051c0023t0004g0024 a0051c0023t0004g0024	1	182	0.0055	55	c.59_ others(60): Show c.59_60insCTACCCATCCCCACCTCCCTACCCATCCCCACGTCCCTAC CCATCCCCACCTCCC	p.Thr others(4): Show p.Thr21fs	GOLGA6L26	ENSG00000273756.5	transcript	ENST00000618455.5	protein_coding	1/9	120/3731	59/1950	20/649		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(432): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGC ATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCT CCTCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTG CCCCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACA TCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTC CCGCATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCT CGTGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0011 a0011	a0011c0042 a0011c0042	a0011c0042t0009 a0011c0042t0009	a0011c0042t0009g0086 a0011c0042t0009g0086	1	396	0.0025	439	c.239 others(448): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGA AGATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCG GGGGGGCAGGAGGAGAAGATGCGGGGGACAGGAGGAGAAGATGCGGGGGC CAG	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440394	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(388): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 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 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(27): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0030	a0000c0002 a0000c0004 a0000c0010 others(74): Show a0000c0002 a0000c0004 a0000c0010 a0000c0016 a0000c0022 a0000c0023 a0000c0024 a0000c0025 a0000c0034 a0000c0037 a0000c0038 a0000c0044 a0000c0051 a0000c0075 a0000c0078 a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0027 a0001c0029 a0001c0033 a0001c0048 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0002c0008 a0002c0011 a0002c0041 a0003c0007 a0003c0068 a0003c0069 a0004c0006 a0005c0009 a0006c0020 a0006c0031 a0006c0032 a0007c0028 a0008c0026 a0009c0021 a0010c0030 a0011c0042 a0012c0077 a0013c0076 a0014c0074 a0015c0073 a0016c0067 a0017c0043 a0018c0050 a0019c0070 a0020c0049 a0021c0071 a0022c0072 a0023c0047 a0024c0046 a0025c0045 a0026c0040 a0027c0039 a0028c0035 a0030c0079	a0000c0002t0002 a0000c0002t0005 a0000c0002t0011 others(95): Show a0000c0002t0002 a0000c0002t0005 a0000c0002t0011 a0000c0002t0017 a0000c0004t0002 a0000c0004t0005 a0000c0010t0002 a0000c0010t0011 a0000c0016t0006 a0000c0022t0006 a0000c0023t0002 a0000c0024t0006 a0000c0025t0002 a0000c0034t0002 a0000c0037t0002 a0000c0038t0002 a0000c0044t0002 a0000c0051t0001 a0000c0075t0005 a0000c0078t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0003t0001 a0001c0005t0001 a0001c0005t0004 a0001c0013t0001 a0001c0013t0003 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0019t0003 a0001c0027t0001 a0001c0029t0001 a0001c0033t0001 a0001c0048t0001 a0001c0052t0001 a0001c0053t0001 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0061t0001 a0001c0062t0001 a0001c0063t0009 a0001c0064t0001 a0001c0065t0001 a0001c0066t0001 a0002c0008t0007 a0002c0008t0013 a0002c0008t0021 a0002c0008t0024 a0002c0011t0008 a0002c0041t0007 a0003c0007t0001 a0003c0007t0009 a0003c0068t0001 a0003c0069t0001 a0004c0006t0001 a0004c0006t0003 a0004c0006t0004 a0005c0009t0001 a0006c0020t0010 a0006c0031t0010 a0006c0032t0010 a0007c0028t0015 a0007c0028t0016 a0008c0026t0005 a0009c0021t0014 a0010c0030t0019 a0011c0042t0009 a0012c0077t0001 a0013c0076t0001 a0014c0074t0001 a0015c0073t0001 a0016c0067t0001 a0017c0043t0001 a0018c0050t0001 a0019c0070t0001 a0020c0049t0001 a0021c0071t0001 a0022c0072t0001 a0023c0047t0004 a0024c0046t0001 a0025c0045t0004 a0026c0040t0022 a0027c0039t0007 a0028c0035t0004 a0030c0079t0001	a0000c0002t0002g0003 a0000c0002t0002g0005 a0000c0002t0002g0040 others(132): Show a0000c0002t0002g0003 a0000c0002t0002g0005 a0000c0002t0002g0040 a0000c0002t0002g0114 a0000c0002t0002g0117 a0000c0002t0002g0118 a0000c0002t0005g0025 a0000c0002t0011g0039 a0000c0002t0017g0115 a0000c0004t0002g0009 a0000c0004t0002g0014 a0000c0004t0002g0028 a0000c0004t0005g0121 a0000c0010t0002g0015 a0000c0010t0011g0131 a0000c0016t0006g0031 a0000c0016t0006g0051 a0000c0022t0006g0042 a0000c0023t0002g0041 a0000c0024t0006g0030 a0000c0025t0002g0029 a0000c0034t0002g0119 a0000c0037t0002g0120 a0000c0038t0002g0122 a0000c0044t0002g0053 a0000c0051t0001g0067 a0000c0075t0005g0108 a0000c0078t0006g0052 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0003g0004 a0001c0001t0003g0026 a0001c0001t0004g0023 a0001c0001t0004g0034 a0001c0001t0004g0050 a0001c0001t0004g0064 a0001c0001t0004g0106 a0001c0001t0012g0038 a0001c0001t0018g0074 a0001c0001t0020g0098 a0001c0001t0023g0107 a0001c0003t0001g0006 a0001c0003t0001g0017 a0001c0003t0001g0133 a0001c0005t0001g0008 a0001c0005t0001g0087 a0001c0005t0001g0091 a0001c0005t0001g0112 a0001c0005t0004g0092 a0001c0013t0001g0021 a0001c0013t0003g0095 a0001c0014t0001g0013 a0001c0015t0001g0012 a0001c0017t0001g0033 a0001c0017t0001g0096 a0001c0018t0001g0022 a0001c0019t0001g0055 a0001c0019t0003g0035 a0001c0027t0001g0032 a0001c0029t0001g0048 a0001c0033t0001g0061 a0001c0048t0001g0065 a0001c0052t0001g0069 a0001c0053t0001g0070 a0001c0054t0001g0071 a0001c0055t0001g0072 a0001c0056t0001g0090 a0001c0057t0001g0097 a0001c0058t0001g0073 a0001c0059t0001g0075 a0001c0060t0001g0076 a0001c0061t0001g0077 a0001c0062t0001g0099 a0001c0063t0009g0078 a0001c0064t0001g0100 a0001c0065t0001g0101 a0001c0066t0001g0079 a0002c0008t0007g0016 a0002c0008t0013g0043 a0002c0008t0021g0127 a0002c0008t0024g0128 a0002c0011t0008g0018 a0002c0011t0008g0138 a0002c0041t0007g0126 a0003c0007t0001g0007 a0003c0007t0009g0036 a0003c0068t0001g0080 a0003c0069t0001g0081 a0004c0006t0001g0010 a0004c0006t0003g0020 a0004c0006t0004g0068 a0005c0009t0001g0011 a0005c0009t0001g0037 a0006c0020t0010g0045 a0006c0031t0010g0130 a0006c0032t0010g0129 a0007c0028t0015g0046 a0007c0028t0016g0047 a0008c0026t0005g0044 a0009c0021t0014g0056 a0009c0021t0014g0057 a0010c0030t0019g0060 a0011c0042t0009g0086 a0012c0077t0001g0111 a0013c0076t0001g0110 a0014c0074t0001g0085 a0015c0073t0001g0104 a0016c0067t0001g0102 a0017c0043t0001g0132 a0018c0050t0001g0066 a0019c0070t0001g0082 a0020c0049t0001g0094 a0021c0071t0001g0103 a0022c0072t0001g0054 a0023c0047t0004g0049 a0024c0046t0001g0093 a0025c0045t0004g0062 a0026c0040t0022g0125 a0027c0039t0007g0124 a0028c0035t0004g0116 a0030c0079t0001g0137	391	396	0.9874	-1	c.208 others(5): Show c.2080delA	p.Arg others(5): Show p.Arg694fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2142/3499	2080/2730	694/909		chr15	TogoVar
GOLGA6L6_chr15_20526856_20546800	20535014	C C	A A	stop_gained stop_gained	HIGH	HG00408.hp1 HG00609.hp1 HG00735.hp1 others(91): Show HG00408.hp1 HG00609.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG02071.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02523.hp1 HG02602.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19090.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0006 a0010 others(13): Show a0001 a0006 a0010 a0011 a0014 a0015 a0017 a0018 a0022 a0029 a0030 a0031 a0032 a0036 a0040 a0043	a0001c0001 a0001c0005 a0001c0019 others(23): Show a0001c0001 a0001c0005 a0001c0019 a0001c0034 a0001c0035 a0001c0038 a0001c0039 a0001c0047 a0006c0011 a0006c0016 a0010c0013 a0010c0029 a0011c0010 a0014c0015 a0015c0017 a0017c0041 a0017c0042 a0018c0020 a0022c0024 a0029c0046 a0030c0045 a0031c0036 a0032c0037 a0036c0040 a0040c0051 a0043c0055	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(30): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0005t0004 a0001c0005t0017 a0001c0019t0001 a0001c0034t0001 a0001c0035t0001 a0001c0038t0016 a0001c0039t0001 a0001c0047t0001 a0006c0011t0001 a0006c0011t0004 a0006c0011t0024 a0006c0016t0004 a0010c0013t0007 a0010c0029t0007 a0011c0010t0001 a0014c0015t0007 a0015c0017t0009 a0017c0041t0001 a0017c0042t0001 a0018c0020t0004 a0022c0024t0007 a0029c0046t0001 a0030c0045t0001 a0031c0036t0001 a0032c0037t0001 a0036c0040t0018 a0040c0051t0012 a0043c0055t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(49): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0004g0064 a0001c0001t0014g0075 a0001c0001t0015g0077 a0001c0001t0020g0079 a0001c0005t0004g0005 a0001c0005t0004g0091 a0001c0005t0017g0092 a0001c0019t0001g0059 a0001c0019t0001g0071 a0001c0034t0001g0073 a0001c0035t0001g0076 a0001c0038t0016g0078 a0001c0039t0001g0081 a0001c0047t0001g0086 a0006c0011t0001g0112 a0006c0011t0004g0110 a0006c0011t0004g0121 a0006c0011t0024g0113 a0006c0016t0004g0026 a0006c0016t0004g0114 a0010c0013t0007g0012 a0010c0029t0007g0053 a0011c0010t0001g0010 a0014c0015t0007g0013 a0015c0017t0009g0039 a0015c0017t0009g0040 a0017c0041t0001g0069 a0017c0042t0001g0072 a0018c0020t0004g0088 a0018c0020t0004g0089 a0022c0024t0007g0032 a0029c0046t0001g0085 a0030c0045t0001g0084 a0031c0036t0001g0062 a0032c0037t0001g0065 a0036c0040t0018g0087 a0040c0051t0012g0120 a0043c0055t0004g0122	94	214	0.4393	0	c.142 others(4): Show c.1420G>T	p.Glu others(4): Show p.Glu474*	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	8/9	1511/4013	1420/2175	474/724		chr15	TogoVar
GPC4_chrX_133295103_133420489	133414820	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0006 a0006	a0006c0003 a0006c0003	a0006c0003t0024 a0006c0003t0024	a0006c0003t0024g0218 a0006c0003t0024g0218	1	221	0.0045	1	c.145 others(4): Show c.145dupC	p.Leu others(4): Show p.Leu49fs	GPC4	ENSG00000076716.9	transcript	ENST00000370828.4	protein_coding	1/9	669/4959	145/1671	49/556		chrX	TogoVar
GPKOW_chrX_49108407_49128735	49119760	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0038 a0005c0007t0001g0038	1	276	0.0036	-1	c.510 others(4): Show c.510delC	p.Met others(5): Show p.Met171fs	GPKOW	ENSG00000068394.11	transcript	ENST00000156109.7	protein_coding	4/11	523/1658	510/1431	170/476		chrX	TogoVar
GPKOW_chrX_49108407_49128735	49119766	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0038 a0005c0007t0001g0038	1	276	0.0036	-1	c.504 others(4): Show c.504delG	p.Leu others(5): Show p.Leu169fs	GPKOW	ENSG00000068394.11	transcript	ENST00000156109.7	protein_coding	4/11	517/1658	504/1431	168/476		chrX	TogoVar
GPKOW_chrX_49108407_49128735	49122692	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19012.hp1 NA19076.hp1 NA19012.hp1 NA19076.hp1	a0005 a0005	a0005c0007 a0005c0008 a0005c0007 a0005c0008	a0005c0007t0001 a0005c0008t0001 a0005c0007t0001 a0005c0008t0001	a0005c0007t0001g0038 a0005c0008t0001g0037 a0005c0007t0001g0038 a0005c0008t0001g0037	2	276	0.0073	1	c.260 others(4): Show c.260dupC	p.Gly others(4): Show p.Gly88fs	GPKOW	ENSG00000068394.11	transcript	ENST00000156109.7	protein_coding	2/11	273/1658	260/1431	87/476		chrX	TogoVar
GPRASP2_chrX_102707448_102722733	102714908	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0011 a0005c0010t0011	a0005c0010t0011g0017 a0005c0010t0011g0017	1	293	0.0034	-1	c.41d others(3): Show c.41delC	p.Pro others(4): Show p.Pro14fs	GPRASP2	ENSG00000158301.20	transcript	ENST00000483720.7	protein_coding	5/5	713/3536	41/2517	14/838	INFO_REALIGN_3_PRIME	chrX	TogoVar
GPRASP2_chrX_102707448_102722733	102715176	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0011 a0005c0010t0011	a0005c0010t0011g0017 a0005c0010t0011g0017	1	293	0.0034	-1	c.310 others(4): Show c.310delG	p.Ala others(5): Show p.Ala104fs	GPRASP2	ENSG00000158301.20	transcript	ENST00000483720.7	protein_coding	5/5	982/3536	310/2517	104/838	INFO_REALIGN_3_PRIME	chrX	TogoVar
GPRASP2_chrX_102707448_102722733	102715199	T T	TA TA	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0011 a0005c0010t0011	a0005c0010t0011g0017 a0005c0010t0011g0017	1	293	0.0034	1	c.334 others(4): Show c.334dupA	p.Thr others(5): Show p.Thr112fs	GPRASP2	ENSG00000158301.20	transcript	ENST00000483720.7	protein_coding	5/5	1007/3536	335/2517	112/838	INFO_REALIGN_3_PRIME	chrX	TogoVar
GUF1_chr4_44673420_44705928	44686024	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01433.hp2 HG01952.hp2 HG01975.hp2 others(3): Show HG01433.hp2 HG01952.hp2 HG01975.hp2 NA18968.hp2 NA19076.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0053 a0001c0001t0004g0011 a0001c0001t0004g0053	6	390	0.0154	0	c.734 others(5): Show c.734+1G>A		GUF1	ENSG00000151806.14	transcript	ENST00000281543.6	protein_coding	7/16					chr4	TogoVar
H2BW2_chrX_104034956_104047454	104040319	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0003 a0000c0005t0003	a0000c0005t0003g0007 a0000c0005t0003g0007	1	332	0.0030	1	c.328 others(4): Show c.328dupG	p.Asp others(5): Show p.Asp110fs	H2BW2	ENSG00000101812.15	transcript	ENST00000675318.3	protein_coding	1/4	368/870	329/447	110/148	INFO_REALIGN_3_PRIME	chrX	TogoVar
H2BW2_chrX_104034956_104047454	104040847	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0003 a0000c0005t0003	a0000c0005t0003g0007 a0000c0005t0003g0007	1	332	0.0030	1	c.432 others(4): Show c.432dupG	p.Gln others(5): Show p.Gln145fs	H2BW2	ENSG00000101812.15	transcript	ENST00000675318.3	protein_coding	2/4	472/870	433/447	145/148	INFO_REALIGN_3_PRIME	chrX	TogoVar
HLA-A_chr6_29937532_29950870	29943463	T T	A A	stop_gained stop_gained	HIGH	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(85): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01993.hp1 HG02027.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02523.hp2 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03654.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19011.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19072.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0004 a0029 others(3): Show a0001 a0004 a0029 a0032 a0039 a0043	a0001c0001 a0004c0004 a0029c0027 others(3): Show a0001c0001 a0004c0004 a0029c0027 a0032c0031 a0039c0039 a0043c0038	a0001c0001t0002 a0004c0004t0004 a0029c0027t0004 others(3): Show a0001c0001t0002 a0004c0004t0004 a0029c0027t0004 a0032c0031t0002 a0039c0039t0002 a0043c0038t0002	a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0027 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0027 a0004c0004t0004g0004 a0004c0004t0004g0023 a0004c0004t0004g0028 a0029c0027t0004g0004 a0032c0031t0002g0002 a0039c0039t0002g0002 a0043c0038t0002g0022	88	418	0.2105	0	c.539 others(3): Show c.539T>A	p.Leu others(4): Show p.Leu180*	HLA-A	ENSG00000206503.14	transcript	ENST00000376809.10	protein_coding	3/8	561/1535	539/1098	180/365		chr6	TogoVar
HLA-DQB1_chr6_32654467_32671657	32664861	C C	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(99): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00735.hp1 HG00741.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19006.hp1 NA19010.hp1 NA19011.hp1 NA19055.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19067.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1	a0005 a0009 a0010 others(2): Show a0005 a0009 a0010 a0011 a0013	a0005c0006 a0005c0019 a0009c0010 others(3): Show a0005c0006 a0005c0019 a0009c0010 a0010c0009 a0011c0011 a0013c0013	a0005c0006t0004 a0005c0019t0004 a0009c0010t0001 others(6): Show a0005c0006t0004 a0005c0019t0004 a0009c0010t0001 a0010c0009t0001 a0010c0009t0010 a0010c0009t0016 a0010c0009t0017 a0011c0011t0009 a0013c0013t0011	a0005c0006t0004g0005 a0005c0006t0004g0016 a0005c0006t0004g0022 others(15): Show a0005c0006t0004g0005 a0005c0006t0004g0016 a0005c0006t0004g0022 a0005c0006t0004g0026 a0005c0006t0004g0054 a0005c0019t0004g0056 a0009c0010t0001g0009 a0010c0009t0001g0030 a0010c0009t0010g0018 a0010c0009t0010g0023 a0010c0009t0010g0027 a0010c0009t0016g0037 a0010c0009t0017g0038 a0011c0011t0009g0011 a0011c0011t0009g0029 a0011c0011t0009g0053 a0013c0013t0011g0013 a0013c0013t0011g0055	102	402	0.2537	0	c.316 others(3): Show c.316G>T	p.Glu others(4): Show p.Glu106*	HLA-DQB1	ENSG00000179344.17	transcript	ENST00000434651.7	protein_coding	2/5	366/1605	316/786	106/261		chr6	TogoVar
HSD17B10_chrX_53426261_53439370	53431871	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0015 a0002c0004t0001g0015	1	280	0.0036	1	c.521 others(4): Show c.521dupG	p.Ile others(5): Show p.Ile175fs	HSD17B10	ENSG00000072506.14	transcript	ENST00000168216.11	protein_coding	5/6	546/954	521/786	174/261		chrX	TogoVar
HSDL1_chr16_84117141_84150177	84130153	C C	A A	stop_gained stop_gained	HIGH	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0031 a0005c0010t0031	a0005c0010t0031g0080 a0005c0010t0031g0080	1	448	0.0022	0	c.499 others(3): Show c.499G>T	p.Glu others(4): Show p.Glu167*	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding	4/6	665/3648	499/993	167/330		chr16	TogoVar
IFNA10_chr9_21201181_21212143	21207038	A A	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp1 HG00544.hp2 others(191): Show HG00099.hp1 HG00323.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0004 others(9): Show a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0002c0013 a0002c0015 a0002c0016 a0002c0017	a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 others(13): Show a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 a0002c0003t0001 a0002c0003t0005 a0002c0003t0007 a0002c0004t0002 a0002c0005t0002 a0002c0006t0004 a0002c0007t0004 a0002c0009t0006 a0002c0010t0004 a0002c0013t0002 a0002c0015t0002 a0002c0016t0005 a0002c0017t0011	a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 others(13): Show a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 a0002c0003t0001g0000 a0002c0003t0005g0000 a0002c0003t0007g0000 a0002c0004t0002g0000 a0002c0005t0002g0000 a0002c0006t0004g0000 a0002c0007t0004g0000 a0002c0009t0006g0000 a0002c0010t0004g0000 a0002c0013t0002g0000 a0002c0015t0002g0000 a0002c0016t0005g0000 a0002c0017t0011g0000	194	457	0.4245	0	c.60T others(2): Show c.60T>A	p.Cys others(3): Show p.Cys20*	IFNA10	ENSG00000186803.3	transcript	ENST00000357374.2	protein_coding	1/1	106/963	60/570	20/189		chr9	TogoVar
IFNE_chr9_21475839_21487313	21481484	G G	A A	stop_gained stop_gained	HIGH	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(58): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00673.hp2 HG01081.hp2 HG01358.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02280.hp1 HG02559.hp1 HG02602.hp2 HG02683.hp2 HG02723.hp2 HG03017.hp1 HG03471.hp2 HG03704.hp2 HG04115.hp1 HG04184.hp1 NA18612.hp1 NA18944.hp2 NA18948.hp1 NA18959.hp1 NA18961.hp2 NA18966.hp2 NA18967.hp2 NA18975.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19056.hp2 NA19063.hp1 NA19074.hp2 NA19076.hp2 NA19080.hp2 NA19083.hp2 NA19089.hp2 NA20129.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	61	450	0.1356	0	c.211 others(3): Show c.211C>T	p.Gln others(3): Show p.Gln71*	IFNE	ENSG00000184995.7	transcript	ENST00000448696.4	protein_coding	1/1	830/1475	211/627	71/208		chr9	TogoVar

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