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	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
FANCE_chr6_35447338_35472102	35462922	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	402	0.0025	0	c.150 others(6): Show c.1509+8T>C		FANCE	ENSG00000112039.6	transcript	ENST00000229769.3	protein_coding	9/9					chr6	TogoVar
FANCG_chr9_35068839_35084942	35074493	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0043 a0001c0008t0002g0043	1	426	0.0024	0	c.163 others(4): Show c.1638T>C	p.Gly others(6): Show p.Gly546Gly	FANCG	ENSG00000221829.11	transcript	ENST00000378643.8	protein_coding	13/14	2056/2556	1638/1869	546/622		chr9	TogoVar
FANCG_chr9_35068839_35084942	35074920	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp2 HG00639.hp1 others(44): Show HG00099.hp1 HG00140.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02148.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG03239.hp1 HG03490.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0014 a0001c0001 a0010c0014	a0001c0001t0001 a0010c0014t0001 a0001c0001t0001 a0010c0014t0001	a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0010c0014t0001g0037	47	426	0.1103	0	c.163 others(6): Show c.1636+7A>G		FANCG	ENSG00000221829.11	transcript	ENST00000378643.8	protein_coding	12/13					chr9	TogoVar
FANCG_chr9_35068839_35084942	35075276	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02129.hp1 HG02129.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0030 a0006c0007t0001g0030	1	426	0.0024	0	c.148 others(6): Show c.1480+3G>C		FANCG	ENSG00000221829.11	transcript	ENST00000378643.8	protein_coding	11/13					chr9	TogoVar
FANCG_chr9_35068839_35084942	35075279	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02129.hp1 HG02129.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0030 a0006c0007t0001g0030	1	426	0.0024	0	c.148 others(4): Show c.1480G>C	p.Gly others(6): Show p.Gly494Arg	FANCG	ENSG00000221829.11	transcript	ENST00000378643.8	protein_coding	11/14	1898/2556	1480/1869	494/622		chr9	TogoVar
FANCG_chr9_35068839_35084942	35075280	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02129.hp1 HG02129.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0030 a0006c0007t0001g0030	1	426	0.0024	0	c.147 others(4): Show c.1479A>C	p.Gln others(6): Show p.Gln493His	FANCG	ENSG00000221829.11	transcript	ENST00000378643.8	protein_coding	11/14	1897/2556	1479/1869	493/622		chr9	TogoVar
FANCG_chr9_35068839_35084942	35075281	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02129.hp1 HG02129.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0030 a0006c0007t0001g0030	1	426	0.0024	0	c.147 others(4): Show c.1478A>C	p.Gln others(6): Show p.Gln493Pro	FANCG	ENSG00000221829.11	transcript	ENST00000378643.8	protein_coding	11/14	1896/2556	1478/1869	493/622		chr9	TogoVar
FANCG_chr9_35068839_35084942	35075323	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02129.hp1 HG02129.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0030 a0006c0007t0001g0030	1	426	0.0024	0	c.143 others(4): Show c.1436G>C	p.Cys others(6): Show p.Cys479Ser	FANCG	ENSG00000221829.11	transcript	ENST00000378643.8	protein_coding	11/14	1854/2556	1436/1869	479/622		chr9	TogoVar
FANCG_chr9_35068839_35084942	35075332	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02129.hp1 HG02129.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0030 a0006c0007t0001g0030	1	426	0.0024	0	c.143 others(6): Show c.1434-7A>T		FANCG	ENSG00000221829.11	transcript	ENST00000378643.8	protein_coding	10/13					chr9	TogoVar
FANCG_chr9_35068839_35084942	35075333	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02129.hp1 HG02129.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0030 a0006c0007t0001g0030	1	426	0.0024	0	c.143 others(6): Show c.1434-8T>C		FANCG	ENSG00000221829.11	transcript	ENST00000378643.8	protein_coding	10/13					chr9	TogoVar
FANCG_chr9_35068839_35084942	35076426	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	426	0.0024	0	c.107 others(6): Show c.1076+6G>T		FANCG	ENSG00000221829.11	transcript	ENST00000378643.8	protein_coding	8/13					chr9	TogoVar
FANCG_chr9_35068839_35084942	35076581	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0032 a0001c0011t0001g0032	1	426	0.0024	0	c.927 others(3): Show c.927C>T	p.Ala others(6): Show p.Ala309Ala	FANCG	ENSG00000221829.11	transcript	ENST00000378643.8	protein_coding	8/14	1345/2556	927/1869	309/622		chr9	TogoVar
FANCI_chr15_89238979_89322131	89258783	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19004.hp1 NA19004.hp1	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0001 a0013c0022t0001	a0013c0022t0001g0065 a0013c0022t0001g0065	1	346	0.0029	0	c.157 others(5): Show c.157+7A>G		FANCI	ENSG00000140525.20	transcript	ENST00000310775.12	protein_coding	3/37					chr15	TogoVar
FANCI_chr15_89238979_89322131	89260841	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00609.hp2 HG00609.hp2	a0019 a0019	a0019c0014 a0019c0014	a0019c0014t0001 a0019c0014t0001	a0019c0014t0001g0324 a0019c0014t0001g0324	1	346	0.0029	0	c.286 others(3): Show c.286G>A	p.Glu others(5): Show p.Glu96Lys	FANCI	ENSG00000140525.20	transcript	ENST00000310775.12	protein_coding	4/38	360/4733	286/3987	96/1328		chr15	TogoVar
FANCI_chr15_89238979_89322131	89276712	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02451.hp1 HG02486.hp1 HG02970.hp1 others(2): Show HG02451.hp1 HG02486.hp1 HG02970.hp1 HG03579.hp2 HG06807.hp1	a0005 a0007 a0005 a0007	a0005c0009 a0007c0034 a0005c0009 a0007c0034	a0005c0009t0002 a0007c0034t0008 a0005c0009t0002 a0007c0034t0008	a0005c0009t0002g0196 a0005c0009t0002g0197 a0005c0009t0002g0198 others(2): Show a0005c0009t0002g0196 a0005c0009t0002g0197 a0005c0009t0002g0198 a0005c0009t0002g0199 a0007c0034t0008g0039	5	346	0.0145	0	c.111 others(4): Show c.1114G>A	p.Val others(6): Show p.Val372Ile	FANCI	ENSG00000140525.20	transcript	ENST00000310775.12	protein_coding	13/38	1188/4733	1114/3987	372/1328		chr15	TogoVar
FANCI_chr15_89238979_89322131	89278679	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp2 HG02965.hp1 HG03453.hp2 others(4): Show HG02717.hp2 HG02965.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0079 a0001c0008t0004g0080 a0001c0008t0004g0081 others(4): Show a0001c0008t0004g0079 a0001c0008t0004g0080 a0001c0008t0004g0081 a0001c0008t0004g0082 a0001c0008t0004g0083 a0001c0008t0004g0085 a0001c0008t0004g0086	7	346	0.0202	0	c.129 others(6): Show c.1294-8C>T		FANCI	ENSG00000140525.20	transcript	ENST00000310775.12	protein_coding	13/37					chr15	TogoVar
FANCI_chr15_89238979_89322131	89291615	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18941.hp1 NA18941.hp1	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0001 a0010c0030t0001	a0010c0030t0001g0045 a0010c0030t0001g0045	1	346	0.0029	0	c.189 others(4): Show c.1893A>C	p.Leu others(6): Show p.Leu631Phe	FANCI	ENSG00000140525.20	transcript	ENST00000310775.12	protein_coding	20/38	1967/4733	1893/3987	631/1328		chr15	TogoVar
FANCI_chr15_89238979_89322131	89307605	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0026 a0004c0005t0001g0042 a0004c0005t0001g0026 a0004c0005t0001g0042	2	346	0.0058	0	c.359 others(6): Show c.3592-8T>C		FANCI	ENSG00000140525.20	transcript	ENST00000310775.12	protein_coding	33/37					chr15	TogoVar
FANCM_chr14_45130930_45205890	45159080	TTA TTA	T T	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00323.hp1 HG00558.hp1 others(40): Show HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp2 HG01891.hp1 HG01952.hp2 HG01993.hp1 HG02056.hp2 HG02976.hp2 HG03017.hp1 HG03239.hp1 HG03831.hp2 HG03927.hp2 NA18940.hp1 NA18946.hp2 NA18952.hp2 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18991.hp1 NA18999.hp1 NA19011.hp1 NA19043.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19078.hp1 NA19091.hp1 NA20805.hp1	a0003 a0005 a0011 others(2): Show a0003 a0005 a0011 a0017 a0027	a0003c0002 a0005c0004 a0011c0014 others(2): Show a0003c0002 a0005c0004 a0011c0014 a0017c0033 a0027c0027	a0003c0002t0001 a0005c0004t0001 a0011c0014t0001 others(2): Show a0003c0002t0001 a0005c0004t0001 a0011c0014t0001 a0017c0033t0001 a0027c0027t0001	a0003c0002t0001g0002 a0003c0002t0001g0174 a0003c0002t0001g0175 others(37): Show a0003c0002t0001g0002 a0003c0002t0001g0174 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0001g0177 a0003c0002t0001g0178 a0003c0002t0001g0180 a0003c0002t0001g0181 a0003c0002t0001g0182 a0003c0002t0001g0183 a0003c0002t0001g0184 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0187 a0003c0002t0001g0188 a0003c0002t0001g0189 a0003c0002t0001g0191 a0003c0002t0001g0192 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0195 a0003c0002t0001g0196 a0003c0002t0001g0199 a0003c0002t0001g0200 a0003c0002t0001g0201 a0003c0002t0001g0202 a0003c0002t0001g0206 a0005c0004t0001g0010 a0005c0004t0001g0017 a0005c0004t0001g0023 a0005c0004t0001g0024 a0005c0004t0001g0099 a0005c0004t0001g0108 a0005c0004t0001g0110 a0005c0004t0001g0111 a0005c0004t0001g0112 a0011c0014t0001g0140 a0011c0014t0001g0141 a0017c0033t0001g0190 a0027c0027t0001g0109	43	238	0.1807	-2	c.139 others(15): Show c.1397-3_1397-2delTA		FANCM	ENSG00000187790.12	transcript	ENST00000267430.10	protein_coding	8/22				INFO_REALIGN_3_PRIME	chr14	TogoVar
FANCM_chr14_45130930_45205890	45176983	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0006 a0002c0031t0006	a0002c0031t0006g0160 a0002c0031t0006g0160	1	238	0.0042	0	c.422 others(6): Show c.4222+7T>G		FANCM	ENSG00000187790.12	transcript	ENST00000267430.10	protein_coding	14/22					chr14	TogoVar
FANCM_chr14_45130930_45205890	45183770	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp1 HG01167.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0112 a0005c0004t0001g0112	1	238	0.0042	0	c.438 others(6): Show c.4387-4A>T		FANCM	ENSG00000187790.12	transcript	ENST00000267430.10	protein_coding	16/22					chr14	TogoVar
FANCM_chr14_45130930_45205890	45185207	TCTTA TCTTA	T T	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00323.hp1 HG00558.hp1 others(111): Show HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01358.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18946.hp2 NA18952.hp2 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18974.hp2 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18991.hp1 NA18998.hp1 NA18999.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19078.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0002 a0003 a0004 others(16): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0022 a0027	a0002c0003 a0002c0006 a0002c0007 others(22): Show a0002c0003 a0002c0006 a0002c0007 a0002c0008 a0002c0031 a0002c0032 a0003c0002 a0004c0005 a0005c0004 a0006c0010 a0007c0009 a0008c0011 a0008c0025 a0009c0016 a0010c0015 a0011c0014 a0012c0012 a0014c0034 a0015c0030 a0016c0029 a0017c0033 a0018c0024 a0019c0026 a0022c0019 a0027c0027	a0002c0003t0001 a0002c0003t0002 a0002c0006t0002 others(24): Show a0002c0003t0001 a0002c0003t0002 a0002c0006t0002 a0002c0007t0003 a0002c0008t0004 a0002c0008t0007 a0002c0031t0006 a0002c0032t0001 a0003c0002t0001 a0004c0005t0001 a0005c0004t0001 a0006c0010t0001 a0007c0009t0001 a0008c0011t0002 a0008c0025t0002 a0009c0016t0005 a0010c0015t0001 a0011c0014t0001 a0012c0012t0002 a0014c0034t0002 a0015c0030t0001 a0016c0029t0001 a0017c0033t0001 a0018c0024t0001 a0019c0026t0008 a0022c0019t0001 a0027c0027t0001	a0002c0003t0001g0167 a0002c0003t0001g0169 a0002c0003t0001g0170 others(107): Show a0002c0003t0001g0167 a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0001g0172 a0002c0003t0002g0142 a0002c0003t0002g0153 a0002c0003t0002g0155 a0002c0003t0002g0156 a0002c0003t0002g0162 a0002c0003t0002g0165 a0002c0003t0002g0221 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0225 a0002c0006t0002g0212 a0002c0006t0002g0213 a0002c0006t0002g0214 a0002c0006t0002g0215 a0002c0006t0002g0216 a0002c0006t0002g0217 a0002c0006t0002g0218 a0002c0006t0002g0219 a0002c0006t0002g0220 a0002c0007t0003g0146 a0002c0007t0003g0147 a0002c0007t0003g0148 a0002c0007t0003g0149 a0002c0007t0003g0166 a0002c0007t0003g0171 a0002c0008t0004g0143 a0002c0008t0004g0150 a0002c0008t0004g0151 a0002c0008t0004g0152 a0002c0008t0004g0173 a0002c0008t0007g0163 a0002c0031t0006g0160 a0002c0032t0001g0209 a0003c0002t0001g0002 a0003c0002t0001g0174 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0001g0177 a0003c0002t0001g0178 a0003c0002t0001g0180 a0003c0002t0001g0181 a0003c0002t0001g0182 a0003c0002t0001g0183 a0003c0002t0001g0184 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0187 a0003c0002t0001g0188 a0003c0002t0001g0189 a0003c0002t0001g0191 a0003c0002t0001g0192 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0195 a0003c0002t0001g0196 a0003c0002t0001g0199 a0003c0002t0001g0200 a0003c0002t0001g0201 a0003c0002t0001g0202 a0003c0002t0001g0206 a0004c0005t0001g0154 a0004c0005t0001g0157 a0004c0005t0001g0158 a0004c0005t0001g0159 a0004c0005t0001g0161 a0004c0005t0001g0164 a0004c0005t0001g0210 a0004c0005t0001g0211 a0005c0004t0001g0010 a0005c0004t0001g0017 a0005c0004t0001g0023 a0005c0004t0001g0024 a0005c0004t0001g0099 a0005c0004t0001g0108 a0005c0004t0001g0110 a0005c0004t0001g0111 a0005c0004t0001g0112 a0006c0010t0001g0137 a0006c0010t0001g0138 a0006c0010t0001g0203 a0006c0010t0001g0204 a0006c0010t0001g0205 a0007c0009t0001g0012 a0007c0009t0001g0013 a0007c0009t0001g0014 a0007c0009t0001g0015 a0007c0009t0001g0016 a0008c0011t0002g0051 a0008c0011t0002g0052 a0008c0011t0002g0053 a0008c0025t0002g0136 a0009c0016t0005g0207 a0009c0016t0005g0208 a0010c0015t0001g0197 a0010c0015t0001g0198 a0011c0014t0001g0140 a0011c0014t0001g0141 a0012c0012t0002g0006 a0014c0034t0002g0139 a0015c0030t0001g0168 a0016c0029t0001g0226 a0017c0033t0001g0190 a0018c0024t0001g0144 a0019c0026t0008g0145 a0022c0019t0001g0019 a0027c0027t0001g0109	114	238	0.4790	-4	c.451 others(17): Show c.4516-5_4516-2delCTTA		FANCM	ENSG00000187790.12	transcript	ENST00000267430.10	protein_coding	17/22				INFO_REALIGN_3_PRIME	chr14	TogoVar
FAP_chr2_162165684_162248445	162173786	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18952.hp2 NA19085.hp1 NA20805.hp1 NA18952.hp2 NA19085.hp1 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0007 a0001c0004t0001g0093 a0001c0004t0001g0007 a0001c0004t0001g0093	3	234	0.0128	0	c.197 others(4): Show c.1971G>A	p.Ala others(6): Show p.Ala657Ala	FAP	ENSG00000078098.15	transcript	ENST00000188790.9	protein_coding	23/26	2089/2696	1971/2283	657/760		chr2	TogoVar
FAP_chr2_162165684_162248445	162226627	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 NA20129.hp1 HG00735.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	234	0.0086	0	c.92- others(4): Show c.92-6C>A		FAP	ENSG00000078098.15	transcript	ENST00000188790.9	protein_coding	2/25					chr2	TogoVar
FAR1_chr11_13663668_13737346	13700312	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02486.hp1 HG02572.hp1 others(1): Show HG02145.hp2 HG02486.hp1 HG02572.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0194 a0001c0001t0007g0195 a0001c0001t0007g0196 others(1): Show a0001c0001t0007g0194 a0001c0001t0007g0195 a0001c0001t0007g0196 a0001c0001t0007g0197	4	352	0.0114	0	c.190 others(5): Show c.190-5G>T		FAR1	ENSG00000197601.14	transcript	ENST00000354817.8	protein_coding	2/11					chr11	TogoVar
FAR2_chr12_29144278_29340616	29332594	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0262 a0002c0003t0002g0262	1	326	0.0031	0	c.125 others(6): Show c.1258-6T>C		FAR2	ENSG00000064763.12	transcript	ENST00000536681.8	protein_coding	10/11					chr12	TogoVar
FARP1_chr13_98138094_98460176	98213419	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02572.hp2 HG02622.hp1 HG02109.hp2 HG02572.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0074 a0001c0002t0003 a0001c0002t0010 a0001c0001t0074 a0001c0002t0003 a0001c0002t0010	a0001c0001t0074g0160 a0001c0002t0003g0195 a0001c0002t0010g0211 a0001c0001t0074g0160 a0001c0002t0003g0195 a0001c0002t0010g0211	3	218	0.0138	0	c.171 others(5): Show c.171+6T>C		FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	2/26					chr13	TogoVar
FARP1_chr13_98138094_98460176	98368109	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	218	0.0046	0	c.320 others(5): Show c.320-8T>C		FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	4/26					chr13	TogoVar
FARP1_chr13_98138094_98460176	98377817	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG02055.hp1 HG02145.hp1 others(9): Show HG01243.hp1 HG02055.hp1 HG02145.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02922.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0001t0055 a0001c0001t0058 others(7): Show a0001c0001t0016 a0001c0001t0055 a0001c0001t0058 a0001c0002t0001 a0001c0002t0009 a0001c0002t0010 a0001c0002t0032 a0001c0002t0034 a0001c0002t0052 a0001c0002t0078	a0001c0001t0016g0153 a0001c0001t0055g0069 a0001c0001t0058g0070 others(9): Show a0001c0001t0016g0153 a0001c0001t0055g0069 a0001c0001t0058g0070 a0001c0002t0001g0049 a0001c0002t0001g0079 a0001c0002t0001g0156 a0001c0002t0009g0173 a0001c0002t0010g0210 a0001c0002t0032g0218 a0001c0002t0034g0165 a0001c0002t0052g0017 a0001c0002t0078g0152	12	218	0.0551	0	c.399 others(5): Show c.399-4G>A		FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	5/26					chr13	TogoVar
FARP1_chr13_98138094_98460176	98440840	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp2 HG02572.hp2 HG02280.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0010 a0001c0002t0003 a0001c0002t0010	a0001c0002t0003g0190 a0001c0002t0010g0211 a0001c0002t0003g0190 a0001c0002t0010g0211	2	218	0.0092	0	c.279 others(6): Show c.2796+4C>T		FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	24/26					chr13	TogoVar
FARP1_chr13_98138094_98460176	98446095	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0209 a0001c0001t0030g0209	1	218	0.0046	0	c.279 others(6): Show c.2797-3C>T		FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	24/26					chr13	TogoVar
FARP2_chr2_241351285_241499841	241373062	G G	GT GT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(105): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01516.hp2 HG01891.hp1 HG01993.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02523.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18994.hp2 NA19000.hp2 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0008 a0009 a0012 a0018	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0002c0002 a0003c0005 a0008c0021 a0009c0012 a0012c0023 a0018c0016	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0002c0002t0001 a0003c0005t0001 a0008c0021t0003 a0009c0012t0001 a0012c0023t0001 a0018c0016t0001	a0001c0001t0001g0004 a0001c0001t0001g0066 a0001c0001t0001g0092 others(105): Show a0001c0001t0001g0004 a0001c0001t0001g0066 a0001c0001t0001g0092 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0004g0265 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0030 a0001c0004t0001g0172 a0001c0006t0001g0243 a0002c0002t0001g0332 a0002c0002t0001g0358 a0003c0005t0001g0039 a0003c0005t0001g0050 a0003c0005t0001g0051 a0003c0005t0001g0059 a0008c0021t0003g0334 a0009c0012t0001g0001 a0009c0012t0001g0002 a0012c0023t0001g0203 a0018c0016t0001g0321	108	378	0.2857	1	c.-24 others(6): Show c.-24-9dupT		FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	1/26				INFO_REALIGN_3_PRIME	chr2	TogoVar
FARP2_chr2_241351285_241499841	241435038	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 NA21309.hp2 HG02055.hp2 NA21309.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0046 a0003c0005t0001g0049 a0003c0005t0001g0046 a0003c0005t0001g0049	2	378	0.0053	0	c.110 others(6): Show c.1100+8C>T		FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	11/26					chr2	TogoVar
FARP2_chr2_241351285_241499841	241441561	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0378 a0001c0001t0001g0378	1	378	0.0027	0	c.141 others(6): Show c.1411+5C>T		FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	13/26					chr2	TogoVar
FARP2_chr2_241351285_241499841	241493289	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(108): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01884.hp2 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02572.hp1 HG02698.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp1 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18963.hp1 NA18965.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp1 NA18988.hp2 NA18990.hp2 NA19000.hp1 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19083.hp1 NA19085.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0014 others(1): Show a0001 a0002 a0014 a0017	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0032 a0002c0002 a0014c0018 a0017c0017	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(7): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0010t0001 a0001c0032t0001 a0002c0002t0001 a0002c0002t0006 a0014c0018t0001 a0017c0017t0001	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 others(108): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0368 a0001c0001t0001g0377 a0001c0003t0001g0026 a0001c0004t0001g0143 a0001c0004t0001g0157 a0001c0004t0001g0159 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0163 a0001c0004t0001g0164 a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0004t0001g0167 a0001c0004t0001g0168 a0001c0004t0001g0169 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0174 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0001g0180 a0001c0004t0001g0181 a0001c0004t0001g0182 a0001c0004t0001g0359 a0001c0004t0001g0360 a0001c0004t0001g0361 a0001c0004t0001g0362 a0001c0004t0001g0370 a0001c0006t0001g0236 a0001c0006t0001g0240 a0001c0006t0001g0241 a0001c0006t0001g0242 a0001c0006t0001g0243 a0001c0006t0001g0244 a0001c0006t0001g0245 a0001c0006t0001g0246 a0001c0006t0001g0247 a0001c0006t0001g0248 a0001c0006t0001g0249 a0001c0006t0001g0250 a0001c0006t0001g0251 a0001c0010t0001g0363 a0001c0010t0001g0364 a0001c0010t0001g0365 a0001c0032t0001g0227 a0002c0002t0001g0200 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0332 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0002t0001g0353 a0002c0002t0001g0354 a0002c0002t0001g0355 a0002c0002t0001g0356 a0002c0002t0001g0357 a0002c0002t0001g0358 a0002c0002t0006g0252 a0014c0018t0001g0339 a0017c0017t0001g0255	111	378	0.2937	0	c.289 others(6): Show c.2896-4G>C		FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	25/26					chr2	TogoVar
FARSA_chr19_12917479_12938711	12928851	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	346	0.0029	0	c.504 others(5): Show c.504-4A>G		FARSA	ENSG00000179115.11	transcript	ENST00000314606.9	protein_coding	4/12					chr19	TogoVar
FARSB_chr2_222561899_222661092	222623734	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG02280.hp1 HG02723.hp2 others(1): Show HG01109.hp2 HG02280.hp1 HG02723.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0300 a0001c0001t0011g0301 a0001c0001t0011g0302 others(1): Show a0001c0001t0011g0300 a0001c0001t0011g0301 a0001c0001t0011g0302 a0001c0001t0011g0303	4	344	0.0116	0	c.117 others(6): Show c.1171-4T>C		FARSB	ENSG00000116120.11	transcript	ENST00000281828.8	protein_coding	12/16					chr2	TogoVar
FARSB_chr2_222561899_222661092	222642852	T T	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0144 a0001c0007t0002g0144	1	344	0.0029	0	c.268 others(3): Show c.268A>C	p.Arg others(5): Show p.Arg90Arg	FARSB	ENSG00000116120.11	transcript	ENST00000281828.8	protein_coding	3/17	287/6761	268/1770	90/589		chr2	TogoVar
FASLG_chr1_172654103_172671876	172664397	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 HG02572.hp1 HG03471.hp2 HG02451.hp1 HG02572.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0017 a0001c0002t0003g0027 a0001c0002t0003g0017 a0001c0002t0003g0027	3	426	0.0070	0	c.451 others(5): Show c.451+7A>G		FASLG	ENSG00000117560.8	transcript	ENST00000367721.3	protein_coding	3/3					chr1	TogoVar
FASN_chr17_82073338_82103236	82081851	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG02109.hp1 HG02109.hp2 others(11): Show HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02622.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 NA20129.hp2 NA20300.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0027 a0001c0029 a0001c0086 others(5): Show a0001c0027 a0001c0029 a0001c0086 a0001c0100 a0005c0035 a0005c0053 a0006c0015 a0006c0077	a0001c0027t0006 a0001c0029t0006 a0001c0086t0006 others(6): Show a0001c0027t0006 a0001c0029t0006 a0001c0086t0006 a0001c0100t0004 a0005c0035t0004 a0005c0053t0001 a0006c0015t0001 a0006c0015t0018 a0006c0077t0001	a0001c0027t0006g0056 a0001c0029t0006g0055 a0001c0086t0006g0263 others(9): Show a0001c0027t0006g0056 a0001c0029t0006g0055 a0001c0086t0006g0263 a0001c0100t0004g0094 a0005c0035t0004g0092 a0005c0035t0004g0095 a0005c0053t0001g0098 a0006c0015t0001g0101 a0006c0015t0001g0102 a0006c0015t0001g0122 a0006c0015t0018g0265 a0006c0077t0001g0090	14	420	0.0333	0	c.616 others(6): Show c.6164-8C>G		FASN	ENSG00000169710.9	transcript	ENST00000306749.4	protein_coding	36/42					chr17	TogoVar
FASN_chr17_82073338_82103236	82082158	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01074.hp2 HG01255.hp1 HG02257.hp2 others(16): Show HG01074.hp2 HG01255.hp1 HG02257.hp2 HG02486.hp1 HG02572.hp2 HG02970.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 NA19030.hp1 NA19054.hp1 NA19064.hp1 NA19082.hp1 NA19240.hp1	a0003 a0015 a0032 a0003 a0015 a0032	a0003c0008 a0003c0030 a0003c0048 others(4): Show a0003c0008 a0003c0030 a0003c0048 a0003c0050 a0003c0051 a0015c0063 a0032c0101	a0003c0008t0002 a0003c0030t0002 a0003c0048t0002 others(4): Show a0003c0008t0002 a0003c0030t0002 a0003c0048t0002 a0003c0050t0002 a0003c0051t0009 a0015c0063t0001 a0032c0101t0002	a0003c0008t0002g0035 a0003c0008t0002g0042 a0003c0008t0002g0107 others(14): Show a0003c0008t0002g0035 a0003c0008t0002g0042 a0003c0008t0002g0107 a0003c0008t0002g0108 a0003c0008t0002g0109 a0003c0008t0002g0134 a0003c0008t0002g0144 a0003c0008t0002g0170 a0003c0008t0002g0172 a0003c0008t0002g0178 a0003c0030t0002g0138 a0003c0030t0002g0184 a0003c0048t0002g0099 a0003c0050t0002g0130 a0003c0051t0009g0097 a0015c0063t0001g0183 a0032c0101t0002g0091	19	420	0.0452	0	c.601 others(4): Show c.6014T>C	p.Val others(7): Show p.Val2005Ala	FASN	ENSG00000169710.9	transcript	ENST00000306749.4	protein_coding	36/43	6137/8464	6014/7536	2005/2511		chr17	TogoVar
FASN_chr17_82073338_82103236	82083428	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	420	0.0024	0	c.534 others(6): Show c.5342-3C>T		FASN	ENSG00000169710.9	transcript	ENST00000306749.4	protein_coding	31/42					chr17	TogoVar
FASN_chr17_82073338_82103236	82084227	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18947.hp1 NA19090.hp1 NA18947.hp1 NA19090.hp1	a0007 a0020 a0007 a0020	a0007c0080 a0020c0085 a0007c0080 a0020c0085	a0007c0080t0002 a0020c0085t0002 a0007c0080t0002 a0020c0085t0002	a0007c0080t0002g0163 a0020c0085t0002g0166 a0007c0080t0002g0163 a0020c0085t0002g0166	2	420	0.0048	0	c.491 others(6): Show c.4919+7G>A		FASN	ENSG00000169710.9	transcript	ENST00000306749.4	protein_coding	28/42					chr17	TogoVar
FASN_chr17_82073338_82103236	82085879	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	2	420	0.0048	0	c.373 others(6): Show c.3733-8C>T		FASN	ENSG00000169710.9	transcript	ENST00000306749.4	protein_coding	22/42					chr17	TogoVar
FASN_chr17_82073338_82103236	82087042	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02602.hp2 HG02602.hp2	a0025 a0025	a0025c0096 a0025c0096	a0025c0096t0001 a0025c0096t0001	a0025c0096t0001g0161 a0025c0096t0001g0161	1	420	0.0024	0	c.342 others(6): Show c.3427+8C>T		FASN	ENSG00000169710.9	transcript	ENST00000306749.4	protein_coding	21/42					chr17	TogoVar
FASN_chr17_82073338_82103236	82089382	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01884.hp1 HG01884.hp2 HG02280.hp1 others(2): Show HG01884.hp1 HG01884.hp2 HG02280.hp1 HG02809.hp2 HG03471.hp1	a0001 a0034 a0001 a0034	a0001c0022 a0001c0060 a0034c0056 a0001c0022 a0001c0060 a0034c0056	a0001c0022t0002 a0001c0060t0002 a0034c0056t0003 a0001c0022t0002 a0001c0060t0002 a0034c0056t0003	a0001c0022t0002g0049 a0001c0022t0002g0258 a0001c0060t0002g0177 others(1): Show a0001c0022t0002g0049 a0001c0022t0002g0258 a0001c0060t0002g0177 a0034c0056t0003g0066	5	420	0.0119	0	c.196 others(4): Show c.1968C>T	p.Ala others(6): Show p.Ala656Ala	FASN	ENSG00000169710.9	transcript	ENST00000306749.4	protein_coding	13/43	2091/8464	1968/7536	656/2511		chr17	TogoVar
FASN_chr17_82073338_82103236	82095321	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0107 a0001c0107	a0001c0107t0001 a0001c0107t0001	a0001c0107t0001g0228 a0001c0107t0001g0228	1	420	0.0024	0	c.279 others(3): Show c.279A>G	p.Gly others(5): Show p.Gly93Gly	FASN	ENSG00000169710.9	transcript	ENST00000306749.4	protein_coding	3/43	402/8464	279/7536	93/2511		chr17	TogoVar
FASTKD1_chr2_169523508_169578865	169572179	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	392	0.0026	0	c.-14 others(6): Show c.-142-8T>G		FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	1/14					chr2	TogoVar
FASTKD3_chr5_7854159_7874031	7868200	G G	GA GA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 HG00741.hp2 HG01167.hp1 others(15): Show HG00438.hp2 HG00741.hp2 HG01167.hp1 HG01192.hp2 HG02027.hp2 HG02683.hp2 HG03942.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18983.hp2 NA18990.hp2 NA19009.hp1 NA19060.hp2 NA19065.hp1 NA19067.hp2 NA19086.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0053 a0002c0002t0001g0006 a0002c0002t0001g0053	18	462	0.0390	1	c.-11 others(7): Show c.-113-5dupT		FASTKD3	ENSG00000124279.12	transcript	ENST00000264669.10	protein_coding	1/6					chr5	TogoVar
FASTKD3_chr5_7854159_7874031	7868200	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp2 HG00597.hp2 others(114): Show HG00099.hp1 HG00140.hp2 HG00597.hp2 HG00621.hp2 HG00673.hp2 HG00738.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02155.hp1 HG02165.hp1 HG02622.hp2 HG02683.hp1 HG02895.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03490.hp1 HG03491.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18964.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19059.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19072.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0012 a0002c0002 others(1): Show a0001c0001 a0001c0012 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0001c0012t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0012t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0019 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0078 a0001c0001t0004g0042 a0001c0012t0001g0043 a0002c0002t0001g0022 a0004c0004t0001g0048	117	462	0.2533	-1	c.-11 others(7): Show c.-113-5delT		FASTKD3	ENSG00000124279.12	transcript	ENST00000264669.10	protein_coding	1/6					chr5	TogoVar

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