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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
FCHO1_chr19_17746477_17793561	17770421	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0132 a0001c0005t0001g0132	1	352	0.0028	c.337 others(5): Show c.337-4G>A		FCHO1	ENSG00000130475.16	transcript	ENST00000596536.6	protein_coding	7/28				chr19	TogoVar
FCHO1_chr19_17746477_17793561	17778235	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00323.hp2 HG00741.hp1 others(28): Show HG00140.hp2 HG00323.hp2 HG00741.hp1 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02300.hp2 HG02698.hp1 HG02738.hp2 HG03490.hp2 HG03491.hp1 HG03654.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18942.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007	a0001c0002t0001g0148 a0001c0003t0001g0006 a0001c0003t0001g0007 others(26): Show a0001c0002t0001g0148 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0016 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0152 a0001c0003t0001g0154 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0216 a0001c0003t0001g0236 a0001c0003t0001g0274 a0001c0003t0001g0308 a0001c0003t0001g0316 a0001c0003t0004g0145 a0001c0003t0004g0146 a0001c0003t0004g0155 a0001c0003t0004g0160 a0001c0003t0007g0147 a0001c0003t0007g0161	31	352	0.0881	c.135 others(6): Show c.1351+7G>A		FCHO1	ENSG00000130475.16	transcript	ENST00000596536.6	protein_coding	19/28				chr19	TogoVar
FCHO1_chr19_17746477_17793561	17788277	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	352	0.0028	c.264 others(6): Show c.2648-7C>A		FCHO1	ENSG00000130475.16	transcript	ENST00000596536.6	protein_coding	28/28				chr19	TogoVar
FCHO2_chr5_72951041_73095522	73017204	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0104 a0001c0003t0006g0104	1	286	0.0035	c.700 others(5): Show c.700-8T>C		FCHO2	ENSG00000157107.14	transcript	ENST00000430046.7	protein_coding	7/25				chr5	TogoVar
FCHO2_chr5_72951041_73095522	73068786	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	286	0.0035	c.157 others(6): Show c.1579+7G>T		FCHO2	ENSG00000157107.14	transcript	ENST00000430046.7	protein_coding	19/25				chr5	TogoVar
FCHO2_chr5_72951041_73095522	73081775	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	286	0.0035	c.198 others(6): Show c.1981-8C>T		FCHO2	ENSG00000157107.14	transcript	ENST00000430046.7	protein_coding	22/25				chr5	TogoVar
FCHSD1_chr5_141634302_141656418	141643002	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00408.hp1 HG02056.hp2 HG02129.hp2 others(2): Show HG00408.hp1 HG02056.hp2 HG02129.hp2 HG02165.hp2 NA18747.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0013 a0001c0010t0001g0013	5	428	0.0117	c.195 others(4): Show c.1950G>A	p.Gly others(6): Show p.Gly650Gly	FCHSD1	ENSG00000197948.11	transcript	ENST00000435817.7	protein_coding	18/20	2000/4319	1950/2073	650/690	chr5	TogoVar
FCHSD1_chr5_141634302_141656418	141644569	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(68): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00733.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp2 HG01346.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01993.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0011 others(3): Show a0001 a0002 a0011 a0014 a0015 a0019	a0001c0001 a0001c0017 a0001c0020 others(5): Show a0001c0001 a0001c0017 a0001c0020 a0002c0003 a0011c0011 a0014c0022 a0015c0021 a0019c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0017t0005 a0001c0020t0003 a0002c0003t0003 a0011c0011t0007 a0014c0022t0003 a0015c0021t0003 a0019c0016t0003	a0001c0001t0001g0064 a0001c0001t0003g0004 a0001c0001t0003g0025 others(27): Show a0001c0001t0001g0064 a0001c0001t0003g0004 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0048 a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0003g0120 a0001c0001t0005g0031 a0001c0001t0005g0041 a0001c0001t0005g0066 a0001c0001t0005g0115 a0001c0001t0007g0075 a0001c0001t0007g0076 a0001c0001t0011g0029 a0001c0001t0012g0040 a0001c0001t0014g0070 a0001c0001t0020g0069 a0001c0017t0005g0061 a0001c0020t0003g0072 a0002c0003t0003g0005 a0002c0003t0003g0059 a0002c0003t0003g0068 a0002c0003t0003g0071 a0011c0011t0007g0033 a0014c0022t0003g0073 a0015c0021t0003g0121 a0019c0016t0003g0052	71	428	0.1659	c.164 others(6): Show c.1642+4A>C		FCHSD1	ENSG00000197948.11	transcript	ENST00000435817.7	protein_coding	16/19				chr5	TogoVar
FCHSD2_chr11_72831745_73147318	73000992	T T	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02976.hp2 HG03041.hp2 HG03195.hp1 others(2): Show HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03471.hp1 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0015 a0001c0004t0001 a0001c0004t0015	a0001c0004t0001g0006 a0001c0004t0001g0089 a0001c0004t0001g0090 others(2): Show a0001c0004t0001g0006 a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0093 a0001c0004t0015g0092	5	290	0.0172	c.385 others(3): Show c.385A>C	p.Arg others(6): Show p.Arg129Arg	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding	5/20	826/4710	385/2223	129/740	chr11	TogoVar
FCN2_chr9_134875810_134892523	134885239	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02080.hp2 HG02080.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0011 a0008c0017t0001g0011	1	472	0.0021	c.302 others(3): Show c.302G>A	p.Gly others(6): Show p.Gly101Asp	FCN2	ENSG00000160339.16	transcript	ENST00000291744.11	protein_coding	5/8	314/1062	302/942	101/313	chr9	TogoVar
FCN2_chr9_134875810_134892523	134885372	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20300.hp1 NA20300.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0001 a0011c0022t0001	a0011c0022t0001g0064 a0011c0022t0001g0064	1	472	0.0021	c.429 others(5): Show c.429+6T>C		FCN2	ENSG00000160339.16	transcript	ENST00000291744.11	protein_coding	5/7				chr9	TogoVar
FCN3_chr1_27364110_27379824	27373262	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0104 a0001c0007t0001g0104	1	404	0.0025	c.267 others(3): Show c.267C>T	p.Gly others(5): Show p.Gly89Gly	FCN3	ENSG00000142748.14	transcript	ENST00000270879.9	protein_coding	5/8	273/1032	267/900	89/299	chr1	TogoVar
FCN3_chr1_27364110_27379824	27373270	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	404	0.0025	c.266 others(5): Show c.266-7T>C		FCN3	ENSG00000142748.14	transcript	ENST00000270879.9	protein_coding	4/7				chr1	TogoVar
FCRL2_chr1_157740733_157782132	157767514	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp1 HG02280.hp2 HG03195.hp1 others(3): Show HG02145.hp1 HG02280.hp2 HG03195.hp1 HG03471.hp1 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0044 a0001c0001t0001g0045 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047	6	380	0.0158	c.884 others(5): Show c.884-5G>A		FCRL2	ENSG00000132704.16	transcript	ENST00000361516.8	protein_coding	5/11				chr1	TogoVar
FCRL3_chr1_157671481_157705769	157678936	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02886.hp2 HG02895.hp1 HG02886.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0192 a0001c0001t0020g0193 a0001c0001t0020g0192 a0001c0001t0020g0193	2	382	0.0052	c.205 others(6): Show c.2058+6T>C		FCRL3	ENSG00000160856.21	transcript	ENST00000368184.8	protein_coding	14/14				chr1	TogoVar
FCRL3_chr1_157671481_157705769	157678936	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp2 HG02486.hp2	a0018 a0018	a0018c0014 a0018c0014	a0018c0014t0022 a0018c0014t0022	a0018c0014t0022g0212 a0018c0014t0022g0212	1	382	0.0026	c.205 others(6): Show c.2058+6T>A		FCRL3	ENSG00000160856.21	transcript	ENST00000368184.8	protein_coding	14/14				chr1	TogoVar
FCRL3_chr1_157671481_157705769	157689798	C C	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	NA19066.hp1 NA19066.hp1	a0017 a0017	a0017c0013 a0017c0013	a0017c0013t0001 a0017c0013t0001	a0017c0013t0001g0158 a0017c0013t0001g0158	1	382	0.0026	c.181 others(4): Show c.1810G>T	p.Gly others(4): Show p.Gly604*	FCRL3	ENSG00000160856.21	transcript	ENST00000368184.8	protein_coding	10/15	2014/4638	1810/2205	604/734	chr1	TogoVar
FCRL3_chr1_157671481_157705769	157697423	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02630.hp2 NA19043.hp1 HG02630.hp2 NA19043.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0005 a0001c0011t0031 a0001c0011t0005 a0001c0011t0031	a0001c0011t0005g0206 a0001c0011t0031g0205 a0001c0011t0005g0206 a0001c0011t0031g0205	2	382	0.0052	c.561 others(3): Show c.561G>A	p.Glu others(6): Show p.Glu187Glu	FCRL3	ENSG00000160856.21	transcript	ENST00000368184.8	protein_coding	6/15	765/4638	561/2205	187/734	chr1	TogoVar
FCRL3_chr1_157671481_157705769	157698637	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(53): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01934.hp2 HG01978.hp2 HG02056.hp2 HG02074.hp1 HG02300.hp1 HG02486.hp1 HG02965.hp1 HG03490.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18956.hp1 NA18968.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18985.hp2 NA18993.hp2 NA18999.hp2 NA19006.hp2 NA19010.hp2 NA19030.hp2 NA19055.hp2 NA19067.hp1 NA19068.hp2 NA19076.hp1 NA19079.hp1 NA19088.hp1 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0012 a0002c0002 a0009c0012	a0002c0002t0003 a0002c0002t0013 a0002c0002t0019 others(4): Show a0002c0002t0003 a0002c0002t0013 a0002c0002t0019 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0009c0012t0002	a0002c0002t0003g0008 a0002c0002t0003g0009 a0002c0002t0003g0013 others(29): Show a0002c0002t0003g0008 a0002c0002t0003g0009 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0132 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0141 a0002c0002t0003g0142 a0002c0002t0003g0143 a0002c0002t0003g0144 a0002c0002t0003g0145 a0002c0002t0013g0116 a0002c0002t0013g0133 a0002c0002t0019g0039 a0002c0002t0028g0136 a0002c0002t0029g0117 a0002c0002t0030g0131 a0009c0012t0002g0146 a0009c0012t0002g0147	56	382	0.1466	c.53- others(4): Show c.53-8C>T		FCRL3	ENSG00000160856.21	transcript	ENST00000368184.8	protein_coding	3/14				chr1	TogoVar
FCRL4_chr1_157568747_157603085	157589457	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0012 a0001c0018t0012	a0001c0018t0012g0211 a0001c0018t0012g0211	1	402	0.0025	c.54A others(2): Show c.54A>G	p.Ala others(5): Show p.Ala18Ala	FCRL4	ENSG00000163518.11	transcript	ENST00000271532.2	protein_coding	3/12	195/3466	54/1548	18/515	chr1	TogoVar
FCRL4_chr1_157568747_157603085	157596346	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA20905.hp2 NA20905.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0001 a0014c0019t0001	a0014c0019t0001g0237 a0014c0019t0001g0237	1	402	0.0025	c.34C others(2): Show c.34C>T	p.Pro others(5): Show p.Pro12Ser	FCRL4	ENSG00000163518.11	transcript	ENST00000271532.2	protein_coding	2/12	175/3466	34/1548	12/515	chr1	TogoVar
FCRL5_chr1_157508377_157557515	157515771	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(163): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp2 NA19060.hp1 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp2 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0017	a0001c0001 a0001c0013 a0001c0022 others(7): Show a0001c0001 a0001c0013 a0001c0022 a0001c0023 a0001c0031 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0017c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0013t0001 a0001c0022t0001 a0001c0023t0001 a0001c0031t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0015 a0003c0003t0003 a0003c0003t0032 a0003c0003t0033 a0005c0005t0001 a0005c0005t0018 a0006c0006t0001 a0006c0006t0002 a0017c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0002g0031 a0001c0001t0002g0083 a0001c0001t0002g0097 a0001c0001t0002g0111 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0148 a0001c0001t0002g0154 a0001c0001t0007g0135 a0001c0001t0010g0007 a0001c0001t0015g0138 a0001c0001t0023g0123 a0001c0001t0024g0130 a0001c0001t0025g0106 a0001c0001t0027g0105 a0001c0013t0001g0030 a0001c0013t0001g0132 a0001c0022t0001g0151 a0001c0023t0001g0095 a0001c0031t0001g0126 a0002c0002t0001g0016 a0002c0002t0001g0044 a0002c0002t0001g0197 a0002c0002t0001g0202 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0224 a0002c0002t0001g0232 a0002c0002t0002g0225 a0002c0002t0015g0203 a0003c0003t0003g0017 a0003c0003t0003g0047 a0003c0003t0003g0257 a0003c0003t0003g0261 a0003c0003t0003g0267 a0003c0003t0003g0269 a0003c0003t0003g0276 a0003c0003t0003g0277 a0003c0003t0003g0280 a0003c0003t0003g0281 a0003c0003t0032g0274 a0003c0003t0033g0266 a0005c0005t0001g0162 a0005c0005t0001g0179 a0005c0005t0018g0163 a0006c0006t0001g0079 a0006c0006t0001g0159 a0006c0006t0001g0166 a0006c0006t0001g0167 a0006c0006t0001g0169 a0006c0006t0001g0185 a0006c0006t0001g0186 a0006c0006t0001g0187 a0006c0006t0002g0168 a0006c0006t0002g0184 a0017c0025t0001g0136	166	366	0.4536	c.284 others(6): Show c.2845-7C>T		FCRL5	ENSG00000143297.19	transcript	ENST00000361835.8	protein_coding	16/16				chr1	TogoVar
FCRL5_chr1_157508377_157557515	157518697	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00609.hp2 HG01109.hp1 HG01884.hp1 others(69): Show HG00609.hp2 HG01109.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02027.hp2 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03710.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18942.hp2 NA18945.hp1 NA18951.hp1 NA18960.hp2 NA18963.hp1 NA18969.hp1 NA18974.hp2 NA18987.hp1 NA18998.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19064.hp2 NA19072.hp2 NA19084.hp2 NA19240.hp1 NA20300.hp1	a0002 a0004 a0005 others(11): Show a0002 a0004 a0005 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0016 a0018 a0020 a0021	a0002c0002 a0004c0004 a0004c0009 others(16): Show a0002c0002 a0004c0004 a0004c0009 a0005c0005 a0005c0016 a0005c0027 a0005c0028 a0007c0008 a0008c0012 a0010c0014 a0011c0017 a0011c0029 a0012c0015 a0013c0018 a0014c0032 a0016c0019 a0018c0021 a0020c0026 a0021c0030	a0002c0002t0004 a0004c0004t0004 a0004c0009t0005 others(25): Show a0002c0002t0004 a0004c0004t0004 a0004c0009t0005 a0004c0009t0008 a0005c0005t0001 a0005c0005t0004 a0005c0005t0006 a0005c0005t0009 a0005c0005t0018 a0005c0016t0002 a0005c0027t0001 a0005c0028t0012 a0007c0008t0005 a0007c0008t0006 a0008c0012t0004 a0010c0014t0002 a0010c0014t0013 a0011c0017t0017 a0011c0029t0001 a0012c0015t0016 a0012c0015t0028 a0013c0018t0004 a0013c0018t0006 a0014c0032t0012 a0016c0019t0019 a0018c0021t0031 a0020c0026t0029 a0021c0030t0005	a0002c0002t0004g0215 a0004c0004t0004g0060 a0004c0009t0005g0050 others(51): Show a0002c0002t0004g0215 a0004c0004t0004g0060 a0004c0009t0005g0050 a0004c0009t0008g0019 a0004c0009t0008g0051 a0004c0009t0008g0052 a0004c0009t0008g0053 a0005c0005t0001g0162 a0005c0005t0001g0179 a0005c0005t0004g0003 a0005c0005t0004g0014 a0005c0005t0004g0037 a0005c0005t0004g0056 a0005c0005t0004g0157 a0005c0005t0004g0160 a0005c0005t0004g0174 a0005c0005t0004g0175 a0005c0005t0004g0177 a0005c0005t0004g0178 a0005c0005t0004g0180 a0005c0005t0006g0004 a0005c0005t0006g0156 a0005c0005t0006g0195 a0005c0005t0009g0161 a0005c0005t0009g0176 a0005c0005t0018g0163 a0005c0005t0018g0173 a0005c0016t0002g0235 a0005c0016t0002g0236 a0005c0027t0001g0164 a0005c0028t0012g0165 a0007c0008t0005g0009 a0007c0008t0005g0024 a0007c0008t0005g0170 a0007c0008t0006g0171 a0008c0012t0004g0241 a0008c0012t0004g0242 a0008c0012t0004g0243 a0008c0012t0004g0244 a0008c0012t0004g0245 a0010c0014t0002g0237 a0010c0014t0013g0238 a0010c0014t0013g0239 a0011c0017t0017g0040 a0011c0029t0001g0250 a0012c0015t0016g0038 a0012c0015t0028g0181 a0013c0018t0004g0055 a0013c0018t0006g0054 a0014c0032t0012g0190 a0016c0019t0019g0085 a0018c0021t0031g0253 a0020c0026t0029g0240 a0021c0030t0005g0172	72	366	0.1967	c.274 others(6): Show c.2743+3G>A		FCRL5	ENSG00000143297.19	transcript	ENST00000361835.8	protein_coding	14/16				chr1	TogoVar
FCRL5_chr1_157508377_157557515	157519745	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00609.hp2 HG01109.hp1 HG01884.hp1 others(61): Show HG00609.hp2 HG01109.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02027.hp2 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03710.hp1 HG06807.hp1 NA18522.hp1 NA18942.hp2 NA18945.hp1 NA18951.hp1 NA18960.hp2 NA18963.hp1 NA18969.hp1 NA18974.hp2 NA18987.hp1 NA18998.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19064.hp2 NA19072.hp2 NA19084.hp2 NA19240.hp1	a0004 a0005 a0007 others(9): Show a0004 a0005 a0007 a0010 a0011 a0012 a0013 a0014 a0016 a0018 a0020 a0021	a0004c0009 a0005c0005 a0005c0016 others(12): Show a0004c0009 a0005c0005 a0005c0016 a0005c0027 a0007c0008 a0010c0014 a0011c0017 a0011c0029 a0012c0015 a0013c0018 a0014c0032 a0016c0019 a0018c0021 a0020c0026 a0021c0030	a0004c0009t0005 a0004c0009t0008 a0005c0005t0001 others(21): Show a0004c0009t0005 a0004c0009t0008 a0005c0005t0001 a0005c0005t0004 a0005c0005t0006 a0005c0005t0009 a0005c0005t0018 a0005c0016t0002 a0005c0027t0001 a0007c0008t0005 a0007c0008t0006 a0010c0014t0002 a0010c0014t0013 a0011c0017t0017 a0011c0029t0001 a0012c0015t0016 a0012c0015t0028 a0013c0018t0004 a0013c0018t0006 a0014c0032t0012 a0016c0019t0019 a0018c0021t0031 a0020c0026t0029 a0021c0030t0005	a0004c0009t0005g0050 a0004c0009t0008g0019 a0004c0009t0008g0051 others(43): Show a0004c0009t0005g0050 a0004c0009t0008g0019 a0004c0009t0008g0051 a0004c0009t0008g0052 a0004c0009t0008g0053 a0005c0005t0001g0162 a0005c0005t0001g0179 a0005c0005t0004g0003 a0005c0005t0004g0014 a0005c0005t0004g0037 a0005c0005t0004g0056 a0005c0005t0004g0157 a0005c0005t0004g0160 a0005c0005t0004g0174 a0005c0005t0004g0175 a0005c0005t0004g0177 a0005c0005t0004g0178 a0005c0005t0004g0180 a0005c0005t0006g0004 a0005c0005t0006g0156 a0005c0005t0006g0195 a0005c0005t0009g0161 a0005c0005t0009g0176 a0005c0005t0018g0163 a0005c0005t0018g0173 a0005c0016t0002g0235 a0005c0016t0002g0236 a0005c0027t0001g0164 a0007c0008t0005g0009 a0007c0008t0005g0024 a0007c0008t0005g0170 a0007c0008t0006g0171 a0010c0014t0002g0237 a0010c0014t0013g0238 a0010c0014t0013g0239 a0011c0017t0017g0040 a0011c0029t0001g0250 a0012c0015t0016g0038 a0012c0015t0028g0181 a0013c0018t0004g0055 a0013c0018t0006g0054 a0014c0032t0012g0190 a0016c0019t0019g0085 a0018c0021t0031g0253 a0020c0026t0029g0240 a0021c0030t0005g0172	64	366	0.1749	c.265 others(4): Show c.2658C>T	p.Ala others(6): Show p.Ala886Ala	FCRL5	ENSG00000143297.19	transcript	ENST00000361835.8	protein_coding	13/17	2811/5385	2658/2934	886/977	chr1	TogoVar
FCRL6_chr1_159797360_159821257	159813554	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02970.hp2 NA18906.hp1 NA21309.hp1 HG02970.hp2 NA18906.hp1 NA21309.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0029 a0006c0008t0001g0029	3	452	0.0066	c.107 others(4): Show c.1075G>A	p.Val others(6): Show p.Val359Met	FCRL6	ENSG00000181036.14	transcript	ENST00000368106.4	protein_coding	7/10	1140/1966	1075/1305	359/434	chr1	TogoVar
FCRL6_chr1_159797360_159821257	159814292	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03834.hp1 HG03834.hp1	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0001 a0016c0016t0001	a0016c0016t0001g0052 a0016c0016t0001g0052	1	452	0.0022	c.114 others(4): Show c.1147G>A	p.Ala others(6): Show p.Ala383Thr	FCRL6	ENSG00000181036.14	transcript	ENST00000368106.4	protein_coding	8/10	1212/1966	1147/1305	383/434	chr1	TogoVar
FCRLB_chr1_161716544_161733143	161726992	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(156): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19058.hp2 NA19062.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0011	a0001c0001 a0001c0014 a0001c0015 others(5): Show a0001c0001 a0001c0014 a0001c0015 a0001c0018 a0001c0019 a0004c0008 a0008c0011 a0011c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0014t0004 a0001c0015t0001 a0001c0018t0001 a0001c0019t0001 a0004c0008t0001 a0008c0011t0001 a0011c0016t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(24): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0004g0009 a0001c0001t0004g0029 a0001c0001t0007g0022 a0001c0001t0007g0040 a0001c0001t0008g0027 a0001c0001t0009g0019 a0001c0014t0004g0009 a0001c0015t0001g0004 a0001c0018t0001g0003 a0001c0019t0001g0008 a0004c0008t0001g0003 a0008c0011t0001g0004 a0011c0016t0001g0049	159	456	0.3487	c.864 others(3): Show c.864G>C	p.Pro others(6): Show p.Pro288Pro	FCRLB	ENSG00000162746.15	transcript	ENST00000367948.7	protein_coding	7/8	1098/1996	864/1281	288/426	chr1	TogoVar
FCSK_chr16_70449595_70485274	70472605	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01169.hp2 HG01169.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0044 a0010c0017t0001g0044	1	356	0.0028	c.140 others(4): Show c.1406G>A	p.Arg others(6): Show p.Arg469Gln	FCSK	ENSG00000157353.17	transcript	ENST00000288078.11	protein_coding	14/24	1464/3907	1406/3255	469/1084	chr16	TogoVar
FCSK_chr16_70449595_70485274	70474786	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	356	0.0028	c.215 others(6): Show c.2156-4A>G		FCSK	ENSG00000157353.17	transcript	ENST00000288078.11	protein_coding	17/23				chr16	TogoVar
FCSK_chr16_70449595_70485274	70475771	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp1 HG03486.hp2 HG02723.hp1 HG03486.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0038 a0001c0007t0001g0039 a0001c0007t0001g0038 a0001c0007t0001g0039	2	356	0.0056	c.264 others(6): Show c.2641+4T>G		FCSK	ENSG00000157353.17	transcript	ENST00000288078.11	protein_coding	20/23				chr16	TogoVar
FCSK_chr16_70449595_70485274	70479407	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02717.hp1 HG02257.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0174 a0001c0001t0001g0177	2	356	0.0056	c.315 others(6): Show c.3153+4C>T		FCSK	ENSG00000157353.17	transcript	ENST00000288078.11	protein_coding	23/23				chr16	TogoVar
FDCSP_chr4_70221124_70240252	70235079	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18522.hp1 NA18906.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0042 a0001c0001t0001g0044	2	450	0.0044	c.29 others(5): Show c.29-6T>C		FDCSP	ENSG00000181617.6	transcript	ENST00000317987.6	protein_coding	4/4				chr4	TogoVar
FDPS_chr1_155303866_155325665	155309972	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	346	0.0029	c.176 others(5): Show c.176+7G>A		FDPS	ENSG00000160752.15	transcript	ENST00000368356.9	protein_coding	2/10				chr1	TogoVar
FDX2_chr19_10305045_10321015	10315848	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02683.hp1 HG03239.hp1 NA18945.hp1 others(8): Show HG02683.hp1 HG03239.hp1 NA18945.hp1 NA18948.hp1 NA18957.hp2 NA18968.hp1 NA18975.hp1 NA18982.hp2 NA19055.hp1 NA19076.hp1 NA19081.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0005 a0002c0004t0001 a0002c0004t0005	a0002c0004t0001g0029 a0002c0004t0001g0062 a0002c0004t0001g0302 others(5): Show a0002c0004t0001g0029 a0002c0004t0001g0062 a0002c0004t0001g0302 a0002c0004t0001g0303 a0002c0004t0001g0304 a0002c0004t0001g0305 a0002c0004t0001g0306 a0002c0004t0005g0301	11	444	0.0248	c.145 others(5): Show c.145+4C>T		FDX2	ENSG00000267673.7	transcript	ENST00000393708.3	protein_coding	1/4				chr19	TogoVar
FDXR_chr17_74857497_74877994	74864140	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03225.hp2 NA19030.hp1 HG03225.hp2 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0004 a0001c0008t0001 a0001c0008t0004	a0001c0008t0001g0102 a0001c0008t0004g0051 a0001c0008t0001g0102 a0001c0008t0004g0051	2	412	0.0049	c.100 others(6): Show c.1002+8T>C		FDXR	ENSG00000161513.12	transcript	ENST00000293195.10	protein_coding	9/11				chr17	TogoVar
FDXR_chr17_74857497_74877994	74864935	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG02145.hp2 HG03225.hp2 others(2): Show HG01884.hp1 HG02145.hp2 HG03225.hp2 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0008t0004 a0001c0001t0001 a0001c0008t0001 a0001c0008t0004	a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0133 others(2): Show a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0133 a0001c0008t0001g0102 a0001c0008t0004g0051	5	412	0.0121	c.610 others(5): Show c.610-4C>G		FDXR	ENSG00000161513.12	transcript	ENST00000293195.10	protein_coding	6/11				chr17	TogoVar
FDXR_chr17_74857497_74877994	74866776	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp2 HG02809.hp2 HG02922.hp1 others(2): Show HG02486.hp2 HG02809.hp2 HG02922.hp1 HG02970.hp2 NA20300.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0017 a0001c0001 a0012c0017	a0001c0001t0001 a0012c0017t0001 a0001c0001t0001 a0012c0017t0001	a0001c0001t0001g0046 a0001c0001t0001g0130 a0001c0001t0001g0149 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0130 a0001c0001t0001g0149 a0012c0017t0001g0112	5	412	0.0121	c.270 others(5): Show c.270+8T>A		FDXR	ENSG00000161513.12	transcript	ENST00000293195.10	protein_coding	3/11				chr17	TogoVar
FER1L5_chr2_96637764_96709883	96661789	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00099.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0001 a0010c0025t0001	a0010c0025t0001g0154 a0010c0025t0001g0154	1	226	0.0044	c.101 others(4): Show c.1016T>A	p.Leu others(6): Show p.Leu339His	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	12/53	1089/6438	1016/6174	339/2057	chr2	TogoVar
FER1L5_chr2_96637764_96709883	96661790	C C	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0001 a0010c0025t0001	a0010c0025t0001g0154 a0010c0025t0001g0154	1	226	0.0044	c.101 others(4): Show c.1017C>G	p.Leu others(6): Show p.Leu339Leu	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	12/53	1090/6438	1017/6174	339/2057	chr2	TogoVar
FER1L5_chr2_96637764_96709883	96661798	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0001 a0010c0025t0001	a0010c0025t0001g0154 a0010c0025t0001g0154	1	226	0.0044	c.101 others(6): Show c.1018+7G>A		FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	12/52				chr2	TogoVar
FER1L5_chr2_96637764_96709883	96692186	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0192 a0001c0002t0001g0192	1	226	0.0044	c.329 others(6): Show c.3292+5G>A		FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	31/52				chr2	TogoVar
FER1L5_chr2_96637764_96709883	96693499	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp2 HG01071.hp1 HG01099.hp1 others(34): Show HG00597.hp2 HG01071.hp1 HG01099.hp1 HG01123.hp1 HG01256.hp1 HG02109.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03516.hp1 HG03579.hp2 HG04184.hp2 HG06807.hp2 NA18906.hp1 NA18942.hp1 NA18950.hp1 NA18962.hp2 NA18963.hp1 NA18981.hp2 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19085.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0023 a0001c0003 a0001c0004 a0001c0023	a0001c0003t0001 a0001c0004t0001 a0001c0023t0001 a0001c0003t0001 a0001c0004t0001 a0001c0023t0001	a0001c0003t0001g0071 a0001c0003t0001g0079 a0001c0003t0001g0197 others(34): Show a0001c0003t0001g0071 a0001c0003t0001g0079 a0001c0003t0001g0197 a0001c0003t0001g0201 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0210 a0001c0004t0001g0001 a0001c0004t0001g0006 a0001c0004t0001g0010 a0001c0004t0001g0011 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0016 a0001c0004t0001g0017 a0001c0004t0001g0021 a0001c0004t0001g0023 a0001c0004t0001g0030 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0035 a0001c0004t0001g0037 a0001c0004t0001g0046 a0001c0004t0001g0053 a0001c0004t0001g0058 a0001c0004t0001g0065 a0001c0004t0001g0109 a0001c0004t0001g0117 a0001c0004t0001g0169 a0001c0004t0001g0170 a0001c0004t0001g0181 a0001c0004t0001g0214 a0001c0023t0001g0064	37	226	0.1637	c.329 others(6): Show c.3293-7C>A		FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	31/52				chr2	TogoVar
FER1L5_chr2_96637764_96709883	96693685	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01358.hp2 HG02258.hp2 HG02895.hp2 others(8): Show HG01358.hp2 HG02258.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03579.hp1 NA19240.hp1	a0003 a0012 a0003 a0012	a0003c0005 a0012c0019 a0003c0005 a0012c0019	a0003c0005t0001 a0012c0019t0001 a0003c0005t0001 a0012c0019t0001	a0003c0005t0001g0067 a0003c0005t0001g0068 a0003c0005t0001g0069 others(8): Show a0003c0005t0001g0067 a0003c0005t0001g0068 a0003c0005t0001g0069 a0003c0005t0001g0070 a0003c0005t0001g0072 a0003c0005t0001g0074 a0003c0005t0001g0075 a0003c0005t0001g0076 a0003c0005t0001g0184 a0003c0005t0001g0213 a0012c0019t0001g0073	11	226	0.0487	c.347 others(4): Show c.3472T>G	p.Trp others(7): Show p.Trp1158Gly	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	32/53	3545/6438	3472/6174	1158/2057	chr2	TogoVar
FER1L5_chr2_96637764_96709883	96698666	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0024 a0001c0020t0001g0024	1	226	0.0044	c.435 others(6): Show c.4357-5G>C		FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	40/52				chr2	TogoVar
FER1L5_chr2_96637764_96709883	96699718	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0024 a0001c0020t0001g0024	1	226	0.0044	c.477 others(4): Show c.4779C>T	p.Cys others(7): Show p.Cys1593Cys	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	43/53	4852/6438	4779/6174	1593/2057	chr2	TogoVar
FER1L6_chr8_123846987_124125061	124045759	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG02897.hp2 HG02965.hp2 HG02572.hp2 HG02897.hp2 HG02965.hp2	a0001 a0002 a0023 a0001 a0002 a0023	a0001c0014 a0002c0019 a0023c0044 a0001c0014 a0002c0019 a0023c0044	a0001c0014t0005 a0002c0019t0004 a0023c0044t0004 a0001c0014t0005 a0002c0019t0004 a0023c0044t0004	a0001c0014t0005g0094 a0002c0019t0004g0088 a0023c0044t0004g0083 a0001c0014t0005g0094 a0002c0019t0004g0088 a0023c0044t0004g0083	3	196	0.0153	c.259 others(6): Show c.2590-8G>C		FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	20/40				chr8	TogoVar
FER1L6_chr8_123846987_124125061	124064348	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00438.hp2 others(138): Show HG00140.hp1 HG00140.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02698.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18984.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19002.hp2 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19081.hp2 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(14): Show a0001 a0003 a0004 a0007 a0009 a0010 a0011 a0012 a0013 a0015 a0016 a0017 a0018 a0019 a0021 a0023 a0025	a0001c0001 a0001c0002 a0001c0004 others(38): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0014 a0001c0015 a0001c0017 a0001c0020 a0001c0023 a0001c0024 a0001c0025 a0001c0033 a0001c0034 a0001c0037 a0001c0040 a0001c0041 a0001c0046 a0001c0058 a0001c0059 a0003c0013 a0003c0016 a0003c0039 a0004c0028 a0004c0060 a0007c0054 a0009c0055 a0010c0032 a0011c0042 a0012c0036 a0013c0057 a0015c0052 a0016c0049 a0017c0050 a0018c0053 a0019c0051 a0021c0045 a0023c0044 a0025c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(63): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0006t0002 a0001c0006t0003 a0001c0008t0001 a0001c0008t0002 a0001c0008t0003 a0001c0009t0001 a0001c0009t0002 a0001c0014t0003 a0001c0014t0005 a0001c0015t0001 a0001c0015t0002 a0001c0015t0009 a0001c0017t0001 a0001c0017t0002 a0001c0020t0001 a0001c0020t0004 a0001c0023t0001 a0001c0024t0002 a0001c0025t0002 a0001c0025t0003 a0001c0033t0002 a0001c0034t0001 a0001c0037t0001 a0001c0040t0002 a0001c0041t0004 a0001c0046t0001 a0001c0058t0001 a0001c0059t0001 a0003c0013t0002 a0003c0013t0003 a0003c0016t0002 a0003c0016t0003 a0003c0039t0002 a0004c0028t0002 a0004c0060t0003 a0007c0054t0001 a0009c0055t0002 a0010c0032t0001 a0011c0042t0002 a0012c0036t0001 a0013c0057t0011 a0015c0052t0002 a0016c0049t0003 a0017c0050t0001 a0018c0053t0001 a0019c0051t0002 a0021c0045t0002 a0023c0044t0004 a0025c0029t0003	a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0051 others(138): Show a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0196 a0001c0001t0002g0047 a0001c0001t0002g0096 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0125 a0001c0001t0002g0157 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0180 a0001c0001t0002g0188 a0001c0001t0003g0019 a0001c0001t0003g0026 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0077 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0093 a0001c0001t0004g0011 a0001c0001t0004g0036 a0001c0001t0004g0067 a0001c0001t0004g0076 a0001c0002t0001g0005 a0001c0002t0001g0018 a0001c0002t0001g0121 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0173 a0001c0002t0002g0016 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0137 a0001c0002t0002g0195 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0034 a0001c0002t0005g0142 a0001c0004t0001g0002 a0001c0004t0001g0118 a0001c0004t0001g0149 a0001c0004t0002g0079 a0001c0004t0002g0123 a0001c0004t0002g0131 a0001c0004t0002g0162 a0001c0004t0003g0028 a0001c0004t0003g0054 a0001c0004t0003g0090 a0001c0004t0004g0075 a0001c0004t0005g0022 a0001c0005t0001g0020 a0001c0005t0001g0119 a0001c0005t0002g0001 a0001c0005t0002g0053 a0001c0005t0002g0066 a0001c0005t0002g0175 a0001c0005t0003g0064 a0001c0005t0003g0084 a0001c0005t0004g0056 a0001c0006t0002g0008 a0001c0006t0002g0059 a0001c0006t0002g0141 a0001c0006t0002g0156 a0001c0006t0002g0179 a0001c0006t0002g0190 a0001c0006t0003g0033 a0001c0006t0003g0039 a0001c0006t0003g0073 a0001c0008t0001g0043 a0001c0008t0001g0130 a0001c0008t0002g0070 a0001c0008t0002g0143 a0001c0008t0003g0055 a0001c0008t0003g0092 a0001c0009t0001g0009 a0001c0009t0001g0103 a0001c0009t0002g0012 a0001c0009t0002g0015 a0001c0009t0002g0127 a0001c0009t0002g0133 a0001c0014t0003g0032 a0001c0014t0003g0080 a0001c0014t0005g0094 a0001c0015t0001g0172 a0001c0015t0002g0052 a0001c0015t0009g0104 a0001c0017t0001g0078 a0001c0017t0002g0089 a0001c0017t0002g0164 a0001c0020t0001g0035 a0001c0020t0004g0069 a0001c0020t0004g0086 a0001c0023t0001g0006 a0001c0023t0001g0177 a0001c0024t0002g0122 a0001c0024t0002g0163 a0001c0025t0002g0048 a0001c0025t0003g0095 a0001c0033t0002g0102 a0001c0034t0001g0194 a0001c0037t0001g0014 a0001c0040t0002g0189 a0001c0041t0004g0081 a0001c0046t0001g0139 a0001c0058t0001g0097 a0001c0059t0001g0030 a0003c0013t0002g0117 a0003c0013t0002g0183 a0003c0013t0003g0082 a0003c0016t0002g0114 a0003c0016t0002g0182 a0003c0016t0003g0072 a0003c0039t0002g0134 a0004c0028t0002g0057 a0004c0028t0002g0058 a0004c0060t0003g0065 a0007c0054t0001g0158 a0009c0055t0002g0184 a0010c0032t0001g0148 a0011c0042t0002g0042 a0012c0036t0001g0165 a0013c0057t0011g0037 a0015c0052t0002g0159 a0016c0049t0003g0044 a0017c0050t0001g0152 a0018c0053t0001g0145 a0019c0051t0002g0132 a0021c0045t0002g0124 a0023c0044t0004g0083 a0025c0029t0003g0045	141	196	0.7194	c.333 others(4): Show c.3330T>G	p.Asp others(7): Show p.Asp1110Glu	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	26/41	3536/6051	3330/5574	1110/1857	chr8	TogoVar
FER1L6_chr8_123846987_124125061	124071629	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0018 a0018	a0018c0053 a0018c0053	a0018c0053t0001 a0018c0053t0001	a0018c0053t0001g0145 a0018c0053t0001g0145	1	196	0.0051	c.409 others(4): Show c.4090G>A	p.Ala others(7): Show p.Ala1364Thr	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	31/41	4296/6051	4090/5574	1364/1857	chr8	TogoVar
FERMT1_chr20_6069845_6128030	6077354	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG03453.hp1 HG03471.hp2 HG02109.hp1 HG03453.hp1 HG03471.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0016 a0002c0011t0030 a0002c0011t0016 a0002c0011t0030	a0002c0011t0016g0070 a0002c0011t0016g0204 a0002c0011t0030g0105 a0002c0011t0016g0070 a0002c0011t0016g0204 a0002c0011t0030g0105	3	368	0.0082	c.186 others(6): Show c.1861-8T>C		FERMT1	ENSG00000101311.17	transcript	ENST00000217289.9	protein_coding	14/14				chr20	TogoVar
FERMT1_chr20_6069845_6128030	6112469	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG00642.hp1 HG00733.hp1 others(17): Show HG00639.hp1 HG00642.hp1 HG00733.hp1 HG01070.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01943.hp2 HG01981.hp2 HG02071.hp1 HG04184.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0010	a0001c0001 a0002c0008 a0005c0009 others(2): Show a0001c0001 a0002c0008 a0005c0009 a0007c0014 a0010c0020	a0001c0001t0041 a0002c0008t0001 a0002c0008t0002 others(5): Show a0001c0001t0041 a0002c0008t0001 a0002c0008t0002 a0002c0008t0007 a0005c0009t0007 a0005c0009t0013 a0007c0014t0018 a0010c0020t0001	a0001c0001t0041g0150 a0002c0008t0001g0154 a0002c0008t0002g0158 others(16): Show a0001c0001t0041g0150 a0002c0008t0001g0154 a0002c0008t0002g0158 a0002c0008t0007g0151 a0002c0008t0007g0152 a0002c0008t0007g0153 a0002c0008t0007g0155 a0002c0008t0007g0156 a0002c0008t0007g0157 a0002c0008t0007g0198 a0005c0009t0007g0170 a0005c0009t0013g0014 a0005c0009t0013g0166 a0005c0009t0013g0167 a0005c0009t0013g0169 a0005c0009t0013g0173 a0007c0014t0018g0171 a0007c0014t0018g0172 a0010c0020t0001g0168	20	368	0.0544	c.532 others(5): Show c.532+8T>C		FERMT1	ENSG00000101311.17	transcript	ENST00000217289.9	protein_coding	4/14				chr20	TogoVar

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