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
FLNA_chrX_154343531_154379634	154364154	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0026 a0026	a0026c0047 a0026c0047	a0026c0047t0002 a0026c0047t0002	a0026c0047t0002g0149 a0026c0047t0002g0149	1	279	0.0036	-1	c.214 others(5): Show c.2147delG	p.Gly others(5): Show p.Gly716fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	15/48	2392/8507	2147/7944	716/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154364281	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0026 a0026	a0026c0047 a0026c0047	a0026c0047t0002 a0026c0047t0002	a0026c0047t0002g0149 a0026c0047t0002g0149	1	279	0.0036	1	c.211 others(5): Show c.2113dupG	p.Ala others(5): Show p.Ala705fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	14/48	2358/8507	2113/7944	705/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154364295	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0026 a0026	a0026c0047 a0026c0047	a0026c0047t0002 a0026c0047t0002	a0026c0047t0002g0149 a0026c0047t0002g0149	1	279	0.0036	1	c.209 others(5): Show c.2099dupA	p.His others(5): Show p.His701fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	14/48	2344/8507	2099/7944	700/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154364847	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18978.hp2 NA18978.hp2	a0024 a0024	a0024c0015 a0024c0015	a0024c0015t0008 a0024c0015t0008	a0024c0015t0008g0032 a0024c0015t0008g0032	1	279	0.0036	1	c.180 others(5): Show c.1801dupG	p.Ala others(5): Show p.Ala601fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	12/48	2046/8507	1801/7944	601/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154365156	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0026 a0026	a0026c0047 a0026c0047	a0026c0047t0002 a0026c0047t0002	a0026c0047t0002g0149 a0026c0047t0002g0149	1	279	0.0036	-1	c.167 others(5): Show c.1670delG	p.Gly others(5): Show p.Gly557fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	11/48	1915/8507	1670/7944	557/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154366031	A A	AAC AAC	frameshift_variant frameshift_variant	HIGH	NA18978.hp2 NA18978.hp2	a0024 a0024	a0024c0015 a0024c0015	a0024c0015t0008 a0024c0015t0008	a0024c0015t0008g0032 a0024c0015t0008g0032	1	279	0.0036	2	c.142 others(11): Show c.1420_1421dupGT	p.Gly others(5): Show p.Gly475fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	9/48	1666/8507	1421/7944	474/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154366376	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0026 a0026	a0026c0047 a0026c0047	a0026c0047t0002 a0026c0047t0002	a0026c0047t0002g0149 a0026c0047t0002g0149	1	279	0.0036	-1	c.115 others(5): Show c.1159delC	p.Gln others(5): Show p.Gln387fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	8/48	1404/8507	1159/7944	387/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154366386	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0026 a0026	a0026c0047 a0026c0047	a0026c0047t0002 a0026c0047t0002	a0026c0047t0002g0149 a0026c0047t0002g0149	1	279	0.0036	-1	c.114 others(5): Show c.1149delA	p.Val others(5): Show p.Val384fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	8/48	1394/8507	1149/7944	383/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154366839	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0026 a0026	a0026c0047 a0026c0047	a0026c0047t0002 a0026c0047t0002	a0026c0047t0002g0149 a0026c0047t0002g0149	1	279	0.0036	-1	c.879 others(4): Show c.879delC	p.Thr others(5): Show p.Thr294fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	6/48	1124/8507	879/7944	293/2647		chrX	TogoVar
FLNA_chrX_154343531_154379634	154367411	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0026 a0026	a0026c0047 a0026c0047	a0026c0047t0002 a0026c0047t0002	a0026c0047t0002g0149 a0026c0047t0002g0149	1	279	0.0036	-1	c.853 others(4): Show c.853delC	p.Arg others(5): Show p.Arg285fs	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	5/48	1098/8507	853/7944	285/2647		chrX	TogoVar
FMN2_chr1_240086883_240480187	240207539	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00621.hp2 HG00738.hp1 others(13): Show HG00621.hp1 HG00621.hp2 HG00738.hp1 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG02055.hp1 HG02083.hp2 HG02486.hp1 HG02602.hp2 HG02809.hp1 HG02896.hp2 NA19030.hp1 NA19030.hp2	a0022 a0030 a0060 others(12): Show a0022 a0030 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0093 a0094	a0022c0092 a0022c0093 a0030c0062 others(13): Show a0022c0092 a0022c0093 a0030c0062 a0060c0080 a0061c0079 a0062c0065 a0063c0134 a0064c0066 a0065c0112 a0066c0107 a0067c0091 a0068c0133 a0069c0106 a0070c0113 a0093c0026 a0094c0040	a0022c0092t0001 a0022c0093t0006 a0030c0062t0009 others(13): Show a0022c0092t0001 a0022c0093t0006 a0030c0062t0009 a0060c0080t0011 a0061c0079t0004 a0062c0065t0002 a0063c0134t0005 a0064c0066t0002 a0065c0112t0003 a0066c0107t0001 a0067c0091t0003 a0068c0133t0005 a0069c0106t0001 a0070c0113t0003 a0093c0026t0001 a0094c0040t0001	a0022c0092t0001g0107 a0022c0093t0006g0138 a0030c0062t0009g0058 others(13): Show a0022c0092t0001g0107 a0022c0093t0006g0138 a0030c0062t0009g0058 a0060c0080t0011g0057 a0061c0079t0004g0100 a0062c0065t0002g0092 a0063c0134t0005g0151 a0064c0066t0002g0017 a0065c0112t0003g0112 a0066c0107t0001g0134 a0067c0091t0003g0120 a0068c0133t0005g0153 a0069c0106t0001g0172 a0070c0113t0003g0139 a0093c0026t0001g0022 a0094c0040t0001g0032	16	174	0.0920	1	c.273 others(5): Show c.2732dupC	p.Pro others(5): Show p.Pro912fs	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	2960/6429	2733/5169	911/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMNL2_chr2_152330174_152654826	152619552	G G	GCCAC GCCAC	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00438.hp2 HG00735.hp1 others(72): Show HG00438.hp1 HG00438.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18977.hp2 NA18995.hp1 NA18995.hp2 NA19060.hp2 NA19062.hp2	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0002 a0002c0004 a0002c0007 others(13): Show a0002c0002 a0002c0004 a0002c0007 a0002c0009 a0002c0012 a0002c0019 a0002c0022 a0002c0033 a0002c0036 a0004c0008 a0004c0021 a0004c0023 a0004c0026 a0004c0031 a0004c0035 a0008c0016	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(32): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0010 a0002c0002t0011 a0002c0002t0017 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0005 a0002c0007t0001 a0002c0007t0002 a0002c0007t0003 a0002c0007t0006 a0002c0009t0001 a0002c0009t0002 a0002c0009t0003 a0002c0012t0001 a0002c0012t0007 a0002c0019t0004 a0002c0022t0002 a0002c0033t0002 a0002c0036t0001 a0004c0008t0001 a0004c0008t0002 a0004c0021t0002 a0004c0021t0003 a0004c0023t0002 a0004c0026t0010 a0004c0031t0009 a0004c0035t0002 a0008c0016t0002	a0002c0002t0001g0002 a0002c0002t0001g0022 a0002c0002t0001g0031 others(72): Show a0002c0002t0001g0002 a0002c0002t0001g0022 a0002c0002t0001g0031 a0002c0002t0001g0038 a0002c0002t0001g0051 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0159 a0002c0002t0001g0168 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0181 a0002c0002t0001g0191 a0002c0002t0001g0197 a0002c0002t0002g0037 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0066 a0002c0002t0002g0161 a0002c0002t0002g0166 a0002c0002t0003g0074 a0002c0002t0003g0170 a0002c0002t0005g0071 a0002c0002t0006g0113 a0002c0002t0008g0035 a0002c0002t0010g0085 a0002c0002t0011g0151 a0002c0002t0017g0001 a0002c0004t0001g0042 a0002c0004t0001g0048 a0002c0004t0001g0080 a0002c0004t0001g0083 a0002c0004t0001g0111 a0002c0004t0001g0112 a0002c0004t0001g0124 a0002c0004t0001g0142 a0002c0004t0001g0177 a0002c0004t0002g0125 a0002c0004t0002g0164 a0002c0004t0003g0056 a0002c0004t0003g0059 a0002c0004t0003g0065 a0002c0004t0005g0046 a0002c0007t0001g0041 a0002c0007t0001g0072 a0002c0007t0001g0133 a0002c0007t0001g0172 a0002c0007t0002g0127 a0002c0007t0003g0107 a0002c0007t0006g0134 a0002c0009t0001g0121 a0002c0009t0001g0153 a0002c0009t0002g0018 a0002c0009t0003g0044 a0002c0012t0001g0156 a0002c0012t0001g0163 a0002c0012t0007g0109 a0002c0019t0004g0094 a0002c0019t0004g0140 a0002c0022t0002g0117 a0002c0022t0002g0187 a0002c0033t0002g0154 a0002c0036t0001g0199 a0004c0008t0001g0192 a0004c0008t0002g0078 a0004c0008t0002g0100 a0004c0008t0002g0157 a0004c0021t0002g0193 a0004c0021t0003g0005 a0004c0023t0002g0084 a0004c0026t0010g0086 a0004c0031t0009g0138 a0004c0035t0002g0105 a0008c0016t0002g0030 a0008c0016t0002g0032	75	200	0.3750	4	c.167 others(13): Show c.1673_1674insACCC	p.Pro others(5): Show p.Pro561fs	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	15/26	2104/5630	1674/3279	558/1092	INFO_REALIGN_3_PRIME	chr2	TogoVar
FMO1_chr1_171243494_171290961	171285268	CTATATCA others(60): Show CTATATCAATGCAAAACCCAACCTGTTCTCTATGCTCCTAACGGATCCAC ATCTGGCTCTGACCGTCT	C C	frameshift_variant frameshift_variant	HIGH	NA18968.hp1 NA18968.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0282 a0007c0010t0001g0282	1	312	0.0032	-67	c.132 others(76): Show c.1325_1391delATATCAATGCAAAACCCAACCTGTTCTCTATGCTCC TAACGGATCCACATCTGGCTCTGACCGTCTT	p.Tyr others(5): Show p.Tyr442fs	FMO1	ENSG00000010932.17	transcript	ENST00000617670.6	protein_coding	9/9	1461/2152	1325/1599	442/532	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMO2_chr1_171180300_171217686	171196663	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG01123.hp1 HG01192.hp1 HG01243.hp1 others(21): Show HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG02109.hp1 HG02135.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp1 HG03579.hp2 NA20129.hp2 NA20300.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0006 a0006c0006t0011 a0006c0006t0016 a0006c0006t0006 a0006c0006t0011 a0006c0006t0016	a0006c0006t0006g0007 a0006c0006t0006g0036 a0006c0006t0006g0112 others(13): Show a0006c0006t0006g0007 a0006c0006t0006g0036 a0006c0006t0006g0112 a0006c0006t0006g0113 a0006c0006t0006g0114 a0006c0006t0006g0115 a0006c0006t0006g0116 a0006c0006t0006g0117 a0006c0006t0006g0118 a0006c0006t0006g0120 a0006c0006t0006g0121 a0006c0006t0006g0122 a0006c0006t0006g0123 a0006c0006t0011g0007 a0006c0006t0011g0119 a0006c0006t0016g0023	24	366	0.0656	-1	c.337 others(4): Show c.337delG	p.Val others(5): Show p.Val113fs	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	4/9	403/5215	337/1608	113/535		chr1	TogoVar
FMO2_chr1_171180300_171217686	171209118	C C	CT CT	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00544.hp2 HG00741.hp2 others(78): Show HG00140.hp2 HG00544.hp2 HG00741.hp2 HG01192.hp2 HG01256.hp2 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18956.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19075.hp2 NA19088.hp1 NA19090.hp2 NA20905.hp2 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0019 a0004c0009 a0002c0002 a0002c0019 a0004c0009	a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 others(2): Show a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 a0002c0019t0004 a0004c0009t0004	a0002c0002t0004g0004 a0002c0002t0004g0008 a0002c0002t0004g0009 others(40): Show a0002c0002t0004g0004 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0011 a0002c0002t0004g0012 a0002c0002t0004g0024 a0002c0002t0004g0028 a0002c0002t0004g0038 a0002c0002t0004g0039 a0002c0002t0004g0041 a0002c0002t0004g0042 a0002c0002t0004g0128 a0002c0002t0004g0129 a0002c0002t0004g0130 a0002c0002t0004g0131 a0002c0002t0004g0133 a0002c0002t0004g0134 a0002c0002t0004g0138 a0002c0002t0004g0142 a0002c0002t0004g0143 a0002c0002t0004g0144 a0002c0002t0004g0146 a0002c0002t0004g0149 a0002c0002t0004g0151 a0002c0002t0004g0152 a0002c0002t0004g0173 a0002c0002t0005g0004 a0002c0002t0005g0008 a0002c0002t0005g0009 a0002c0002t0005g0012 a0002c0002t0005g0124 a0002c0002t0005g0125 a0002c0002t0005g0136 a0002c0002t0005g0137 a0002c0002t0005g0140 a0002c0002t0005g0150 a0002c0002t0025g0024 a0002c0019t0004g0004 a0004c0009t0004g0016 a0004c0009t0004g0108 a0004c0009t0004g0110 a0004c0009t0004g0174 a0004c0009t0004g0175	81	366	0.2213	1	c.158 others(5): Show c.1588dupT	p.Cys others(5): Show p.Cys530fs	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	9/9	1655/5215	1589/1608	530/535	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMR1NB_chrX_147976337_148031665	147981428	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0232 a0003c0005t0001g0232	1	275	0.0036	1	c.30d others(3): Show c.30dupG	p.Arg others(4): Show p.Arg11fs	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/6	97/1011	31/768	11/255	INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1NB_chrX_147976337_148031665	147981439	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0232 a0003c0005t0001g0232	1	275	0.0036	1	c.39d others(3): Show c.39dupG	p.Arg others(4): Show p.Arg14fs	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/6	106/1011	40/768	14/255	INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1NB_chrX_147976337_148031665	147981651	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0232 a0003c0005t0001g0232	1	275	0.0036	1	c.250 others(4): Show c.250dupT	p.Tyr others(4): Show p.Tyr84fs	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/6	317/1011	251/768	84/255	INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1NB_chrX_147976337_148031665	148024988	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG01069.hp1 HG01069.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0001 a0000c0004t0001	a0000c0004t0001g0196 a0000c0004t0001g0196	1	275	0.0036	-1	c.758 others(4): Show c.758delG	p.Gly others(5): Show p.Gly253fs	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	5/6	824/1011	758/768	253/255	INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1_chrX_147906919_147956125	147928680	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18980.hp2 NA18980.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0047 a0005c0004t0001g0047	1	304	0.0033	-1	c.293 others(4): Show c.293delC	p.Ala others(4): Show p.Ala98fs	FMR1	ENSG00000102081.16	transcript	ENST00000370475.9	protein_coding	5/17	554/4441	293/1899	98/632		chrX	TogoVar
FMR1_chrX_147906919_147956125	147928684	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18980.hp2 NA18980.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0047 a0005c0004t0001g0047	1	304	0.0033	1	c.296 others(8): Show c.296_297insC	p.Asp others(5): Show p.Asp100fs	FMR1	ENSG00000102081.16	transcript	ENST00000370475.9	protein_coding	5/17	558/4441	297/1899	99/632		chrX	TogoVar
FMR1_chrX_147906919_147956125	147928686	G G	GCA GCA	frameshift_variant frameshift_variant	HIGH	NA18980.hp2 NA18980.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0047 a0005c0004t0001g0047	1	304	0.0033	2	c.298 others(9): Show c.298_299insCA	p.Asp others(5): Show p.Asp100fs	FMR1	ENSG00000102081.16	transcript	ENST00000370475.9	protein_coding	5/17	560/4441	299/1899	100/632		chrX	TogoVar
FMR1_chrX_147906919_147956125	147932729	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0071 a0004c0008t0001g0071	1	304	0.0033	1	c.847 others(4): Show c.847dupG	p.Glu others(5): Show p.Glu283fs	FMR1	ENSG00000102081.16	transcript	ENST00000370475.9	protein_coding	9/17	1109/4441	848/1899	283/632	INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1_chrX_147906919_147956125	147936514	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA18978.hp1 NA18978.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0056 a0003c0005t0001g0056	1	304	0.0033	-1	c.893 others(4): Show c.893delG	p.Gly others(5): Show p.Gly298fs	FMR1	ENSG00000102081.16	transcript	ENST00000370475.9	protein_coding	10/17	1154/4441	893/1899	298/632	INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1_chrX_147906919_147956125	147940622	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0071 a0004c0008t0001g0071	1	304	0.0033	1	c.123 others(5): Show c.1236dupT	p.Ala others(5): Show p.Ala413fs	FMR1	ENSG00000102081.16	transcript	ENST00000370475.9	protein_coding	13/17	1498/4441	1237/1899	413/632	INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1_chrX_147906919_147956125	147940658	TA TA	T T	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0071 a0004c0008t0001g0071	1	304	0.0033	-1	c.127 others(5): Show c.1274delA	p.Lys others(5): Show p.Lys425fs	FMR1	ENSG00000102081.16	transcript	ENST00000370475.9	protein_coding	13/17	1535/4441	1274/1899	425/632	INFO_REALIGN_3_PRIME	chrX	TogoVar
FOLR3_chr11_72130725_72144892	72139110	CTA CTA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(333): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 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 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.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.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0001c0018 a0001c0019 a0003c0004 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0001c0012t0001 a0001c0018t0001 a0001c0019t0001 a0003c0004t0001 a0005c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0002g0001 a0001c0003t0001g0001 a0001c0003t0001g0009 a0001c0003t0001g0018 a0001c0003t0001g0022 a0001c0005t0001g0004 a0001c0010t0001g0002 a0001c0012t0001g0002 a0001c0018t0001g0001 a0001c0019t0001g0001 a0003c0004t0001g0001 a0005c0014t0001g0001	336	384	0.8750	-2	c.320 others(9): Show c.320_321delAT	p.Tyr others(5): Show p.Tyr107fs	FOLR3	ENSG00000110203.10	transcript	ENST00000611028.3	protein_coding	3/5	370/849	320/738	107/245	INFO_REALIGN_3_PRIME	chr11	TogoVar
FOXD3_chr1_63317567_63330128	63323392	GAGGGCGG others(39): Show GAGGGCGGCGCGAGCGGCGGCGGGCCTGGCGCGGGCAGCGGTTCGGC	G G	frameshift_variant frameshift_variant	HIGH	NA19005.hp1 NA19005.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0000 a0009c0012t0001g0000	1	460	0.0022	-46	c.335 others(53): Show c.335_380delAGGGCGGCGCGAGCGGCGGCGGGCCTGGCGCGGGCAGC GGTTCGGC	p.Glu others(5): Show p.Glu112fs	FOXD3	ENSG00000187140.6	transcript	ENST00000371116.4	protein_coding	1/1	827/2562	335/1437	112/478		chr1	TogoVar
FOXD4L1_chr2_113493665_113506150	113500127	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00423.hp1 HG00438.hp1 others(96): Show HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02165.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp2 HG02818.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03239.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp2 NA18982.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19062.hp2 NA19063.hp1 NA19089.hp1 NA19090.hp1 NA21309.hp2	a0000 a0000	a0000c0002 a0000c0005 a0000c0009 others(3): Show a0000c0002 a0000c0005 a0000c0009 a0000c0010 a0000c0017 a0000c0018	a0000c0002t0002 a0000c0002t0014 a0000c0002t0016 others(5): Show a0000c0002t0002 a0000c0002t0014 a0000c0002t0016 a0000c0005t0002 a0000c0009t0012 a0000c0010t0002 a0000c0017t0013 a0000c0018t0002	a0000c0002t0002g0000 a0000c0002t0014g0000 a0000c0002t0016g0000 others(5): Show a0000c0002t0002g0000 a0000c0002t0014g0000 a0000c0002t0016g0000 a0000c0005t0002g0000 a0000c0009t0012g0000 a0000c0010t0002g0000 a0000c0017t0013g0000 a0000c0018t0002g0000	99	326	0.3037	-1	c.876 others(4): Show c.876delC	p.Gly others(5): Show p.Gly293fs	FOXD4L1	ENSG00000184492.7	transcript	ENST00000306507.7	protein_coding	1/1	1468/2486	876/1227	292/408	INFO_REALIGN_3_PRIME	chr2	TogoVar
FOXD4L5_chr9_65277101_65290209	65283162	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG00323.hp2 HG00597.hp1 others(52): Show HG00323.hp1 HG00323.hp2 HG00597.hp1 HG00597.hp2 HG00741.hp1 HG01175.hp1 HG02015.hp2 HG02027.hp1 HG02145.hp1 HG02145.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02895.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp2 NA18946.hp1 NA18946.hp2 NA18966.hp2 NA18977.hp2 NA18994.hp1 NA18994.hp2 NA19001.hp1 NA19001.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19085.hp1 NA19085.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0000 a0000	a0000c0001 a0000c0007 a0000c0008 others(6): Show a0000c0001 a0000c0007 a0000c0008 a0000c0010 a0000c0011 a0000c0012 a0000c0013 a0000c0014 a0000c0015	a0000c0001t0001 a0000c0001t0004 a0000c0001t0005 others(12): Show a0000c0001t0001 a0000c0001t0004 a0000c0001t0005 a0000c0001t0007 a0000c0001t0008 a0000c0001t0015 a0000c0001t0016 a0000c0007t0009 a0000c0008t0001 a0000c0010t0001 a0000c0011t0001 a0000c0012t0001 a0000c0013t0001 a0000c0014t0001 a0000c0015t0001	a0000c0001t0001g0000 a0000c0001t0004g0000 a0000c0001t0005g0000 others(12): Show a0000c0001t0001g0000 a0000c0001t0004g0000 a0000c0001t0005g0000 a0000c0001t0007g0000 a0000c0001t0008g0000 a0000c0001t0015g0000 a0000c0001t0016g0000 a0000c0007t0009g0000 a0000c0008t0001g0000 a0000c0010t0001g0000 a0000c0011t0001g0000 a0000c0012t0001g0000 a0000c0013t0001g0000 a0000c0014t0001g0000 a0000c0015t0001g0000	55	81	0.6790	-1	c.121 others(5): Show c.1215delC	p.Trp others(5): Show p.Trp406fs	FOXD4L5	ENSG00000204779.2	transcript	ENST00000377420.1	protein_coding	1/1	2047/3109	1215/1251	405/416		chr9	TogoVar
FOXD4_chr9_111231_123417	116848	T T	TA TA	frameshift_variant frameshift_variant	HIGH	HG01175.hp1 HG01891.hp2 HG02622.hp1 others(11): Show HG01175.hp1 HG01891.hp2 HG02622.hp1 HG02818.hp2 HG03453.hp1 HG03486.hp1 HG03540.hp2 HG03942.hp1 HG04204.hp1 NA18522.hp2 NA18981.hp2 NA18985.hp2 NA19058.hp1 NA20905.hp2	a0000 a0005 a0011 others(2): Show a0000 a0005 a0011 a0014 a0023	a0000c0028 a0005c0010 a0005c0023 others(3): Show a0000c0028 a0005c0010 a0005c0023 a0011c0019 a0014c0021 a0023c0030	a0000c0028t0001 a0005c0010t0006 a0005c0010t0020 others(4): Show a0000c0028t0001 a0005c0010t0006 a0005c0010t0020 a0005c0023t0014 a0011c0019t0006 a0014c0021t0006 a0023c0030t0006	a0000c0028t0001g0000 a0005c0010t0006g0000 a0005c0010t0020g0000 others(4): Show a0000c0028t0001g0000 a0005c0010t0006g0000 a0005c0010t0020g0000 a0005c0023t0014g0000 a0011c0019t0006g0000 a0014c0021t0006g0000 a0023c0030t0006g0000	14	452	0.0310	1	c.127 others(5): Show c.1271dupT	p.Leu others(5): Show p.Leu424fs	FOXD4	ENSG00000170122.6	transcript	ENST00000382500.4	protein_coding	1/1	1569/2187	1271/1320	424/439		chr9	TogoVar
FOXD4_chr9_111231_123417	117363	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG01175.hp1 HG01891.hp2 HG02622.hp1 others(10): Show HG01175.hp1 HG01891.hp2 HG02622.hp1 HG02818.hp2 HG03453.hp1 HG03486.hp1 HG03540.hp2 HG03942.hp1 HG04204.hp1 NA18522.hp2 NA18981.hp2 NA19058.hp1 NA20905.hp2	a0005 a0011 a0014 others(1): Show a0005 a0011 a0014 a0023	a0005c0010 a0005c0023 a0011c0019 others(2): Show a0005c0010 a0005c0023 a0011c0019 a0014c0021 a0023c0030	a0005c0010t0006 a0005c0010t0020 a0005c0023t0014 others(3): Show a0005c0010t0006 a0005c0010t0020 a0005c0023t0014 a0011c0019t0006 a0014c0021t0006 a0023c0030t0006	a0005c0010t0006g0000 a0005c0010t0020g0000 a0005c0023t0014g0000 others(3): Show a0005c0010t0006g0000 a0005c0010t0020g0000 a0005c0023t0014g0000 a0011c0019t0006g0000 a0014c0021t0006g0000 a0023c0030t0006g0000	13	452	0.0288	1	c.756 others(4): Show c.756dupG	p.Arg others(5): Show p.Arg253fs	FOXD4	ENSG00000170122.6	transcript	ENST00000382500.4	protein_coding	1/1	1054/2187	756/1320	252/439		chr9	TogoVar
FOXF2_chr6_1384576_1400603	1390698	GCGGGCTA others(4): Show GCGGGCTACGAC	G G	frameshift_variant frameshift_variant	HIGH	NA18981.hp1 NA18981.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0003 a0010c0016t0001g0003	1	450	0.0022	-11	c.752 others(18): Show c.752_762delCGGGCTACGAC	p.Ala others(5): Show p.Ala251fs	FOXF2	ENSG00000137273.6	transcript	ENST00000645481.2	protein_coding	1/2	1124/2451	752/1335	251/444		chr6	TogoVar
FOXJ2_chr12_8027716_8060517	8049471	C C	CGTGCCCC others(19): Show CGTGCCCCCTCAAGGGGGTACCCACCG	frameshift_variant frameshift_variant	HIGH	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0006 a0004c0008t0006	a0004c0008t0006g0129 a0004c0008t0006g0129	1	374	0.0027	26	c.143 others(35): Show c.1438_1463dupGTGCCCCCTCAAGGGGGTACCCACCG	p.Pro others(5): Show p.Pro489fs	FOXJ2	ENSG00000065970.9	transcript	ENST00000162391.8	protein_coding	9/11	2596/5524	1464/1725	488/574	INFO_REALIGN_3_PRIME	chr12	TogoVar
FOXK2_chr17_82514732_82609602	82586178	T T	TGGAGACC others(91): Show TGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGG	frameshift_variant frameshift_variant	HIGH	NA19080.hp2 NA19080.hp2	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0039 a0010c0022t0039	a0010c0022t0039g0288 a0010c0022t0039g0288	1	308	0.0033	98	c.156 others(107): Show c.1568_1569insGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGG AGACCACAGGGA	p.Val others(5): Show p.Val526fs	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/9	1726/5243	1569/1983	523/660	INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXL2NB_chr3_138942217_138958990	138949615	CGGCATTC others(3): Show CGGCATTCGAA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00741.hp1 HG01256.hp1 others(3): Show HG00099.hp2 HG00741.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0001	6	396	0.0152	-10	c.200 others(17): Show c.200_209delATTCGAAGGC	p.His others(4): Show p.His67fs	FOXL2NB	ENSG00000206262.9	transcript	ENST00000383165.4	protein_coding	2/3	348/4094	200/528	67/175	INFO_REALIGN_3_PRIME	chr3	TogoVar
FOXO4_chrX_71090851_71108532	71096814	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0009 a0002c0006t0009	a0002c0006t0009g0017 a0002c0006t0009g0017	1	295	0.0034	-1	c.289 others(4): Show c.289delC	p.Arg others(4): Show p.Arg97fs	FOXO4	ENSG00000184481.17	transcript	ENST00000374259.8	protein_coding	1/3	967/3644	289/1518	97/505	INFO_REALIGN_3_PRIME	chrX	TogoVar
FOXO4_chrX_71090851_71108532	71096885	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0009 a0002c0006t0009	a0002c0006t0009g0017 a0002c0006t0009g0017	1	295	0.0034	1	c.359 others(4): Show c.359dupA	p.Arg others(5): Show p.Arg121fs	FOXO4	ENSG00000184481.17	transcript	ENST00000374259.8	protein_coding	1/3	1038/3644	360/1518	120/505	INFO_REALIGN_3_PRIME	chrX	TogoVar
FOXO4_chrX_71090851_71108532	71100798	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0009 a0002c0006t0009	a0002c0006t0009g0017 a0002c0006t0009g0017	1	295	0.0034	1	c.574 others(4): Show c.574dupC	p.Arg others(5): Show p.Arg192fs	FOXO4	ENSG00000184481.17	transcript	ENST00000374259.8	protein_coding	2/3	1253/3644	575/1518	192/505	INFO_REALIGN_3_PRIME	chrX	TogoVar
FOXO4_chrX_71090851_71108532	71101035	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0009 a0002c0006t0009	a0002c0006t0009g0017 a0002c0006t0009g0017	1	295	0.0034	1	c.808 others(4): Show c.808dupC	p.Arg others(5): Show p.Arg270fs	FOXO4	ENSG00000184481.17	transcript	ENST00000374259.8	protein_coding	2/3	1487/3644	809/1518	270/505	INFO_REALIGN_3_PRIME	chrX	TogoVar
FOXP3_chrX_49245438_49269710	49251437	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19002.hp2 NA19002.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0007 a0005c0009t0007	a0005c0009t0007g0120 a0005c0009t0007g0120	1	299	0.0033	1	c.119 others(5): Show c.1192dupG	p.Val others(5): Show p.Val398fs	FOXP3	ENSG00000049768.18	transcript	ENST00000376207.10	protein_coding	12/12	1264/2264	1192/1296	398/431		chrX	TogoVar
FOXP3_chrX_49245438_49269710	49253988	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA18993.hp2 NA18993.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0089 a0010c0012t0001g0089	1	299	0.0033	-1	c.895 others(4): Show c.895delC	p.Arg others(5): Show p.Arg299fs	FOXP3	ENSG00000049768.18	transcript	ENST00000376207.10	protein_coding	9/12	967/2264	895/1296	299/431		chrX	TogoVar
FOXP3_chrX_49245438_49269710	49255762	CCCTGCCC others(6): Show CCCTGCCCTTCTCA	C C	frameshift_variant frameshift_variant	HIGH	HG03491.hp2 HG03491.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0081 a0007c0008t0001g0081	1	299	0.0033	-13	c.675 others(20): Show c.675_687delTGAGAAGGGCAGG	p.Asp others(5): Show p.Asp225fs	FOXP3	ENSG00000049768.18	transcript	ENST00000376207.10	protein_coding	7/12	759/2264	675/1296	225/431		chrX	TogoVar
FOXP3_chrX_49245438_49269710	49256792	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19063.hp1 NA19063.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0008 a0008c0007t0008	a0008c0007t0008g0153 a0008c0007t0008g0153	1	299	0.0033	1	c.605 others(8): Show c.605_606insG	p.Gly others(5): Show p.Gly203fs	FOXP3	ENSG00000049768.18	transcript	ENST00000376207.10	protein_coding	6/12	677/2264	605/1296	202/431		chrX	TogoVar
FOXP3_chrX_49245438_49269710	49256951	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19063.hp1 NA19063.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0008 a0008c0007t0008	a0008c0007t0008g0153 a0008c0007t0008g0153	1	299	0.0033	-1	c.515 others(4): Show c.515delC	p.Pro others(5): Show p.Pro172fs	FOXP3	ENSG00000049768.18	transcript	ENST00000376207.10	protein_coding	5/12	587/2264	515/1296	172/431		chrX	TogoVar
FOXP3_chrX_49245438_49269710	49257717	G G	GGC GGC	frameshift_variant frameshift_variant	HIGH	NA19067.hp1 NA19067.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0092 a0004c0011t0001g0092	1	299	0.0033	2	c.260 others(9): Show c.260_261dupGC	p.Pro others(4): Show p.Pro88fs	FOXP3	ENSG00000049768.18	transcript	ENST00000376207.10	protein_coding	3/12	333/2264	261/1296	87/431		chrX	TogoVar
FOXP3_chrX_49245438_49269710	49258345	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG02683.hp1 HG02683.hp1	a0009 a0009	a0009c0006 a0009c0006	a0009c0006t0001 a0009c0006t0001	a0009c0006t0001g0101 a0009c0006t0001g0101	1	299	0.0033	-1	c.160 others(4): Show c.160delG	p.Ala others(4): Show p.Ala54fs	FOXP3	ENSG00000049768.18	transcript	ENST00000376207.10	protein_coding	2/12	232/2264	160/1296	54/431		chrX	TogoVar
FOXRED1_chr11_126264154_126283126	126275803	CTTCATCT others(75): Show CTTCATCTCAACGCATGTTGACCACAGATGACAAAGCGGTGGTCTTGAAA AGGATCCATGAAGTCCATGTAAGTTTCTAGTCT	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19082.hp1 NA19082.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0098 a0005c0006t0002g0098	1	390	0.0026	-82	c.744 others(92): Show c.744_810+15delTTCATCTCAACGCATGTTGACCACAGATGACAAAG CGGTGGTCTTGAAAAGGATCCATGAAGTCCATGTAAGTTTCTAGTCT	p.Ser others(5): Show p.Ser249fs	FOXRED1	ENSG00000110074.12	transcript	ENST00000263578.10	protein_coding	7/11	797/1951	744/1461	248/486		chr11	TogoVar
FOXRED2_chr22_36482190_36512040	36506336	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00738.hp2 HG01175.hp1 HG01978.hp2 others(8): Show HG00738.hp2 HG01175.hp1 HG01978.hp2 HG02809.hp2 HG03927.hp2 HG04199.hp1 NA18965.hp2 NA18972.hp2 NA18986.hp1 NA19009.hp2 NA19030.hp1	a0005 a0005	a0005c0007 a0005c0009 a0005c0012 a0005c0007 a0005c0009 a0005c0012	a0005c0007t0001 a0005c0007t0003 a0005c0007t0005 others(6): Show a0005c0007t0001 a0005c0007t0003 a0005c0007t0005 a0005c0007t0031 a0005c0009t0002 a0005c0009t0008 a0005c0009t0027 a0005c0012t0001 a0005c0012t0006	a0005c0007t0001g0037 a0005c0007t0001g0040 a0005c0007t0003g0088 others(8): Show a0005c0007t0001g0037 a0005c0007t0001g0040 a0005c0007t0003g0088 a0005c0007t0005g0077 a0005c0007t0031g0087 a0005c0009t0002g0110 a0005c0009t0002g0113 a0005c0009t0008g0111 a0005c0009t0027g0112 a0005c0012t0001g0039 a0005c0012t0006g0038	11	320	0.0344	1	c.86d others(3): Show c.86dupC	p.Arg others(4): Show p.Arg30fs	FOXRED2	ENSG00000100350.16	transcript	ENST00000397224.9	protein_coding	2/9	119/4906	86/2055	29/684		chr22	TogoVar
FPGS_chr9_127797882_127819081	127813461	C C	CCAAAGGG others(24): Show CCAAAGGGCCTCCTCACCCACCCTGTGGCTCA	frameshift_variant frameshift_variant	HIGH	HG00738.hp1 HG00738.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0068 a0006c0010t0001g0068	1	406	0.0025	31	c.162 others(40): Show c.1624_1654dupAAGGGCCTCCTCACCCACCCTGTGGCTCACA	p.Ser others(5): Show p.Ser552fs	FPGS	ENSG00000136877.15	transcript	ENST00000373247.7	protein_coding	15/15	1698/2284	1655/1764	552/587	INFO_REALIGN_3_PRIME	chr9	TogoVar

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