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
ANXA13_chr8_123675794_123742393	123712742	G G	C C	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0010 a0007c0013t0010	a0007c0013t0010g0021 a0007c0013t0010g0021	1	374	0.0027	c.27C others(2): Show c.27C>G	p.Ser others(4): Show p.Ser9Arg	ANXA13	ENSG00000104537.17	transcript	ENST00000419625.6	protein_coding	2/11	86/1456	27/951	9/316	chr8	TogoVar
ANXA1_chr9_73146865_73175393	73158761	T T	C C	missense_variant missense_variant	MODERATE	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0132 a0002c0005t0001g0132	1	428	0.0023	c.133 others(3): Show c.133T>C	p.Ser others(5): Show p.Ser45Pro	ANXA1	ENSG00000135046.14	transcript	ENST00000257497.11	protein_coding	3/13	207/1401	133/1041	45/346	chr9	TogoVar
ANXA1_chr9_73146865_73175393	73158791	A A	T T	missense_variant missense_variant	MODERATE	NA18988.hp2 NA18988.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0156 a0006c0009t0001g0156	1	428	0.0023	c.163 others(3): Show c.163A>T	p.Ile others(5): Show p.Ile55Leu	ANXA1	ENSG00000135046.14	transcript	ENST00000257497.11	protein_coding	3/13	237/1401	163/1041	55/346	chr9	TogoVar
ANXA1_chr9_73146865_73175393	73159390	G G	C C	missense_variant missense_variant	MODERATE	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0004 a0004c0006t0001g0004	1	428	0.0023	c.237 others(3): Show c.237G>C	p.Gln others(5): Show p.Gln79His	ANXA1	ENSG00000135046.14	transcript	ENST00000257497.11	protein_coding	4/13	311/1401	237/1041	79/346	chr9	TogoVar
ANXA1_chr9_73146865_73175393	73160812	A A	G G	missense_variant missense_variant	MODERATE	HG03710.hp1 HG03710.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0151 a0005c0007t0001g0151	1	428	0.0023	c.394 others(3): Show c.394A>G	p.Thr others(6): Show p.Thr132Ala	ANXA1	ENSG00000135046.14	transcript	ENST00000257497.11	protein_coding	6/13	468/1401	394/1041	132/346	chr9	TogoVar
ANXA2R_chr5_43034371_43045319	43039491	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp2 HG03130.hp2 NA18906.hp2 HG01109.hp2 HG03130.hp2 NA18906.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	3	296	0.0101	c.556 others(3): Show c.556C>T	p.Arg others(6): Show p.Arg186Trp	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding	1/1	829/949	556/582	186/193	chr5	TogoVar
ANXA2R_chr5_43034371_43045319	43039634	A A	C C	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0000 a0004c0004t0001g0000	1	296	0.0034	c.413 others(3): Show c.413T>G	p.Val others(6): Show p.Val138Gly	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding	1/1	686/949	413/582	138/193	chr5	TogoVar
ANXA2R_chr5_43034371_43045319	43039691	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(42): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02257.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02965.hp1 HG02965.hp2 HG03225.hp1 HG03471.hp2 HG03688.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	45	296	0.1520	c.356 others(3): Show c.356A>G	p.Gln others(6): Show p.Gln119Arg	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding	1/1	629/949	356/582	119/193	chr5	TogoVar
ANXA2_chr15_60342151_60402986	60349101	C C	T T	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02723.hp1 HG02647.hp1 HG02723.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0036 a0003c0004t0001g0254 a0003c0004t0001g0036 a0003c0004t0001g0254	2	334	0.0060	c.934 others(3): Show c.934G>A	p.Gly others(6): Show p.Gly312Ser	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	12/13	989/1554	934/1020	312/339	chr15	TogoVar
ANXA2_chr15_60342151_60402986	60351232	C C	G G	missense_variant missense_variant	MODERATE	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0032 a0005c0006t0001g0032	1	334	0.0030	c.798 others(3): Show c.798G>C	p.Lys others(6): Show p.Lys266Asn	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/13	853/1554	798/1020	266/339	chr15	TogoVar
ANXA2_chr15_60342151_60402986	60352420	G G	T T	missense_variant missense_variant	MODERATE	HG01257.hp2 HG01257.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0333 a0004c0005t0002g0333	1	334	0.0030	c.645 others(3): Show c.645C>A	p.Ser others(6): Show p.Ser215Arg	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	9/13	700/1554	645/1020	215/339	chr15	TogoVar
ANXA2_chr15_60342151_60402986	60352421	C C	T T	missense_variant missense_variant	MODERATE	HG01257.hp2 HG01257.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0333 a0004c0005t0002g0333	1	334	0.0030	c.644 others(3): Show c.644G>A	p.Ser others(6): Show p.Ser215Asn	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	9/13	699/1554	644/1020	215/339	chr15	TogoVar
ANXA2_chr15_60342151_60402986	60354182	T T	C C	missense_variant missense_variant	MODERATE	HG03669.hp2 HG03669.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0077 a0006c0007t0001g0077	1	334	0.0030	c.560 others(3): Show c.560A>G	p.Asp others(6): Show p.Asp187Gly	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	8/13	615/1554	560/1020	187/339	chr15	TogoVar
ANXA2_chr15_60342151_60402986	60361006	C C	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(17): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00639.hp1 HG00741.hp2 HG01099.hp1 HG01168.hp2 HG01243.hp2 HG01256.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG02293.hp2 HG02735.hp1 HG02738.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0001 a0002c0002t0006	a0002c0002t0001g0009 a0002c0002t0001g0017 a0002c0002t0001g0020 others(17): Show a0002c0002t0001g0009 a0002c0002t0001g0017 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0048 a0002c0002t0001g0140 a0002c0002t0001g0157 a0002c0002t0001g0161 a0002c0002t0001g0219 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0002t0001g0321 a0002c0002t0001g0323 a0002c0002t0006g0326	20	334	0.0599	c.292 others(3): Show c.292G>T	p.Val others(5): Show p.Val98Leu	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	5/13	347/1554	292/1020	98/339	chr15	TogoVar
ANXA3_chr4_78546770_78615447	78573220	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02280.hp2 HG02818.hp1 others(1): Show HG01884.hp1 HG02280.hp2 HG02818.hp1 NA18522.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0004 a0003c0004t0006 a0003c0004t0002 a0003c0004t0004 a0003c0004t0006	a0003c0004t0002g0072 a0003c0004t0004g0309 a0003c0004t0006g0071 others(1): Show a0003c0004t0002g0072 a0003c0004t0004g0309 a0003c0004t0006g0071 a0003c0004t0006g0073	4	330	0.0121	c.56G others(2): Show c.56G>A	p.Ser others(5): Show p.Ser19Asn	ANXA3	ENSG00000138772.13	transcript	ENST00000264908.11	protein_coding	3/13	184/1432	56/972	19/323	chr4	TogoVar
ANXA3_chr4_78546770_78615447	78579027	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03831.hp2 HG03831.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0003 a0009c0013t0003	a0009c0013t0003g0228 a0009c0013t0003g0228	1	330	0.0030	c.104 others(3): Show c.104G>T	p.Gly others(5): Show p.Gly35Val	ANXA3	ENSG00000138772.13	transcript	ENST00000264908.11	protein_coding	4/13	232/1432	104/972	35/323	chr4	TogoVar
ANXA3_chr4_78546770_78615447	78586263	G G	A A	missense_variant missense_variant	MODERATE	HG02155.hp2 HG02155.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0296 a0007c0007t0001g0296	1	330	0.0030	c.316 others(3): Show c.316G>A	p.Ala others(6): Show p.Ala106Thr	ANXA3	ENSG00000138772.13	transcript	ENST00000264908.11	protein_coding	6/13	444/1432	316/972	106/323	chr4	TogoVar
ANXA3_chr4_78546770_78615447	78586264	C C	T T	missense_variant missense_variant	MODERATE	HG01891.hp2 HG01891.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0004 a0008c0010t0004	a0008c0010t0004g0157 a0008c0010t0004g0157	1	330	0.0030	c.317 others(3): Show c.317C>T	p.Ala others(6): Show p.Ala106Val	ANXA3	ENSG00000138772.13	transcript	ENST00000264908.11	protein_coding	6/13	445/1432	317/972	106/323	chr4	TogoVar
ANXA3_chr4_78546770_78615447	78586326	G G	A A	missense_variant missense_variant	MODERATE	HG04204.hp2 HG04204.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0134 a0006c0008t0002g0134	1	330	0.0030	c.379 others(3): Show c.379G>A	p.Asp others(6): Show p.Asp127Asn	ANXA3	ENSG00000138772.13	transcript	ENST00000264908.11	protein_coding	6/13	507/1432	379/972	127/323	chr4	TogoVar
ANXA3_chr4_78546770_78615447	78597340	T T	A A	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02258.hp1 HG02572.hp2 others(3): Show HG02145.hp2 HG02258.hp1 HG02572.hp2 HG02809.hp1 NA18906.hp2 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0006 a0002c0003t0004 a0002c0003t0006	a0002c0003t0004g0048 a0002c0003t0004g0049 a0002c0003t0004g0150 others(2): Show a0002c0003t0004g0048 a0002c0003t0004g0049 a0002c0003t0004g0150 a0002c0003t0006g0005 a0002c0003t0006g0137	6	330	0.0182	c.656 others(3): Show c.656T>A	p.Ile others(6): Show p.Ile219Asn	ANXA3	ENSG00000138772.13	transcript	ENST00000264908.11	protein_coding	10/13	784/1432	656/972	219/323	chr4	TogoVar
ANXA3_chr4_78546770_78615447	78601528	C C	T T	missense_variant missense_variant	MODERATE	NA18612.hp1 NA18612.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0189 a0005c0009t0001g0189	1	330	0.0030	c.749 others(3): Show c.749C>T	p.Thr others(6): Show p.Thr250Met	ANXA3	ENSG00000138772.13	transcript	ENST00000264908.11	protein_coding	11/13	877/1432	749/972	250/323	chr4	TogoVar
ANXA3_chr4_78546770_78615447	78610081	T T	C C	missense_variant missense_variant	MODERATE	HG03486.hp2 NA19043.hp2 HG03486.hp2 NA19043.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0051 a0004c0005t0003g0070 a0004c0005t0003g0051 a0004c0005t0003g0070	2	330	0.0061	c.938 others(3): Show c.938T>C	p.Ile others(6): Show p.Ile313Thr	ANXA3	ENSG00000138772.13	transcript	ENST00000264908.11	protein_coding	13/13	1066/1432	938/972	313/323	chr4	TogoVar
ANXA4_chr2_69737134_69832112	69804538	G G	C C	missense_variant missense_variant	MODERATE	HG02809.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG02809.hp1 HG02896.hp1 HG02897.hp1 NA19043.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0007 a0004c0004t0005 a0004c0004t0007	a0004c0004t0005g0203 a0004c0004t0005g0206 a0004c0004t0007g0204 others(1): Show a0004c0004t0005g0203 a0004c0004t0005g0206 a0004c0004t0007g0204 a0004c0004t0007g0205	4	346	0.0116	c.103 others(3): Show c.103G>C	p.Asp others(5): Show p.Asp35His	ANXA4	ENSG00000196975.16	transcript	ENST00000394295.6	protein_coding	4/13	191/2651	103/966	35/321	chr2	TogoVar
ANXA4_chr2_69737134_69832112	69806439	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0006 a0005c0005t0007g0006	1	346	0.0029	c.247 others(3): Show c.247G>A	p.Val others(5): Show p.Val83Met	ANXA4	ENSG00000196975.16	transcript	ENST00000394295.6	protein_coding	5/13	335/2651	247/966	83/321	chr2	TogoVar
ANXA4_chr2_69737134_69832112	69806452	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(72): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00609.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01978.hp2 HG02015.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp2 HG03688.hp1 HG03710.hp1 HG04115.hp2 HG04228.hp2 NA18939.hp2 NA18940.hp1 NA18945.hp2 NA18950.hp2 NA18954.hp2 NA18961.hp1 NA18963.hp2 NA18965.hp2 NA18968.hp2 NA18972.hp1 NA18975.hp2 NA18980.hp2 NA18982.hp1 NA18988.hp1 NA18992.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19064.hp1 NA19065.hp2 NA19078.hp2 NA19081.hp1 NA19082.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0010 a0002c0002t0013	a0002c0002t0001g0268 a0002c0002t0002g0001 a0002c0002t0002g0005 others(71): Show a0002c0002t0001g0268 a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0002g0011 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0026 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0048 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0064 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0108 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0127 a0002c0002t0002g0132 a0002c0002t0002g0134 a0002c0002t0002g0154 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0184 a0002c0002t0002g0187 a0002c0002t0002g0208 a0002c0002t0002g0218 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0253 a0002c0002t0002g0256 a0002c0002t0002g0269 a0002c0002t0002g0273 a0002c0002t0002g0303 a0002c0002t0002g0309 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0340 a0002c0002t0002g0341 a0002c0002t0004g0102 a0002c0002t0010g0018 a0002c0002t0010g0220 a0002c0002t0013g0129	75	346	0.2168	c.260 others(3): Show c.260C>T	p.Thr others(5): Show p.Thr87Met	ANXA4	ENSG00000196975.16	transcript	ENST00000394295.6	protein_coding	5/13	348/2651	260/966	87/321	chr2	TogoVar
ANXA4_chr2_69737134_69832112	69810607	C C	G G	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00423.hp1 HG00642.hp2 others(47): Show HG00408.hp2 HG00423.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01099.hp2 HG01106.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01891.hp1 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02135.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02965.hp2 HG02976.hp1 HG03225.hp1 HG03225.hp2 HG03540.hp2 NA18954.hp1 NA18966.hp1 NA18974.hp2 NA18980.hp1 NA18990.hp1 NA19005.hp2 NA19011.hp2 NA19056.hp2 NA19068.hp2 NA19074.hp1 NA19080.hp2 NA19082.hp1 NA19091.hp1 NA19240.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0002 a0003c0003t0004 a0003c0003t0016 others(1): Show a0003c0003t0002 a0003c0003t0004 a0003c0003t0016 a0005c0005t0007	a0003c0003t0002g0104 a0003c0003t0002g0110 a0003c0003t0004g0002 others(45): Show a0003c0003t0002g0104 a0003c0003t0002g0110 a0003c0003t0004g0002 a0003c0003t0004g0003 a0003c0003t0004g0013 a0003c0003t0004g0014 a0003c0003t0004g0025 a0003c0003t0004g0033 a0003c0003t0004g0034 a0003c0003t0004g0035 a0003c0003t0004g0036 a0003c0003t0004g0046 a0003c0003t0004g0058 a0003c0003t0004g0059 a0003c0003t0004g0060 a0003c0003t0004g0061 a0003c0003t0004g0062 a0003c0003t0004g0063 a0003c0003t0004g0065 a0003c0003t0004g0066 a0003c0003t0004g0067 a0003c0003t0004g0068 a0003c0003t0004g0069 a0003c0003t0004g0074 a0003c0003t0004g0082 a0003c0003t0004g0093 a0003c0003t0004g0094 a0003c0003t0004g0095 a0003c0003t0004g0096 a0003c0003t0004g0097 a0003c0003t0004g0106 a0003c0003t0004g0107 a0003c0003t0004g0109 a0003c0003t0004g0111 a0003c0003t0004g0123 a0003c0003t0004g0133 a0003c0003t0004g0156 a0003c0003t0004g0181 a0003c0003t0004g0189 a0003c0003t0004g0192 a0003c0003t0004g0214 a0003c0003t0004g0247 a0003c0003t0004g0301 a0003c0003t0004g0317 a0003c0003t0004g0331 a0003c0003t0004g0339 a0003c0003t0016g0325 a0005c0005t0007g0006	50	346	0.1445	c.411 others(3): Show c.411C>G	p.Ser others(6): Show p.Ser137Arg	ANXA4	ENSG00000196975.16	transcript	ENST00000394295.6	protein_coding	7/13	499/2651	411/966	137/321	chr2	TogoVar
ANXA5_chr4_121662946_121701980	121670000	C C	T T	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0068 a0002c0002t0002g0069	2	338	0.0059	c.734 others(3): Show c.734G>A	p.Arg others(6): Show p.Arg245Gln	ANXA5	ENSG00000164111.15	transcript	ENST00000296511.10	protein_coding	11/13	887/1638	734/963	245/320	chr4	TogoVar
ANXA5_chr4_121662946_121701980	121684759	T T	C C	missense_variant missense_variant	MODERATE	NA18951.hp2 NA18951.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0170 a0003c0004t0001g0170	1	338	0.0030	c.107 others(3): Show c.107A>G	p.Glu others(5): Show p.Glu36Gly	ANXA5	ENSG00000164111.15	transcript	ENST00000296511.10	protein_coding	4/13	260/1638	107/963	36/320	chr4	TogoVar
ANXA6_chr5_151095706_151162779	151108536	T T	G G	missense_variant missense_variant	MODERATE	NA19088.hp2 NA19088.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0001 a0006c0018t0001	a0006c0018t0001g0319 a0006c0018t0001g0319	1	408	0.0025	c.169 others(4): Show c.1699A>C	p.Ile others(6): Show p.Ile567Leu	ANXA6	ENSG00000197043.15	transcript	ENST00000354546.10	protein_coding	23/26	1824/2889	1699/2022	567/673	chr5	TogoVar
ANXA6_chr5_151095706_151162779	151109800	C C	T T	missense_variant missense_variant	MODERATE	HG02165.hp2 HG02165.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0002 a0005c0017t0002	a0005c0017t0002g0265 a0005c0017t0002g0265	1	408	0.0025	c.163 others(4): Show c.1637G>A	p.Arg others(6): Show p.Arg546His	ANXA6	ENSG00000197043.15	transcript	ENST00000354546.10	protein_coding	22/26	1762/2889	1637/2022	546/673	chr5	TogoVar
ANXA6_chr5_151095706_151162779	151126409	C C	T T	missense_variant missense_variant	MODERATE	HG03688.hp2 HG03688.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0335 a0004c0016t0001g0335	1	408	0.0025	c.104 others(4): Show c.1049G>A	p.Arg others(6): Show p.Arg350Gln	ANXA6	ENSG00000197043.15	transcript	ENST00000354546.10	protein_coding	14/26	1174/2889	1049/2022	350/673	chr5	TogoVar
ANXA6_chr5_151095706_151162779	151133144	G G	T T	missense_variant missense_variant	MODERATE	NA19080.hp2 NA19080.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0002 a0007c0015t0002	a0007c0015t0002g0253 a0007c0015t0002g0253	1	408	0.0025	c.590 others(3): Show c.590C>A	p.Ala others(6): Show p.Ala197Asp	ANXA6	ENSG00000197043.15	transcript	ENST00000354546.10	protein_coding	9/26	715/2889	590/2022	197/673	chr5	TogoVar
ANXA6_chr5_151095706_151162779	151138703	G G	T T	missense_variant missense_variant	MODERATE	HG01515.hp1 HG01515.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0336 a0008c0010t0001g0336	1	408	0.0025	c.293 others(3): Show c.293C>A	p.Ala others(5): Show p.Ala98Asp	ANXA6	ENSG00000197043.15	transcript	ENST00000354546.10	protein_coding	5/26	418/2889	293/2022	98/673	chr5	TogoVar
ANXA6_chr5_151095706_151162779	151138760	G G	A A	missense_variant missense_variant	MODERATE	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0363 a0003c0013t0001g0363	1	408	0.0025	c.236 others(3): Show c.236C>T	p.Thr others(5): Show p.Thr79Met	ANXA6	ENSG00000197043.15	transcript	ENST00000354546.10	protein_coding	5/26	361/2889	236/2022	79/673	chr5	TogoVar
ANXA6_chr5_151095706_151162779	151139447	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01993.hp1 HG01993.hp1	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0001 a0009c0020t0001	a0009c0020t0001g0220 a0009c0020t0001g0220	1	408	0.0025	c.110 others(3): Show c.110G>T	p.Gly others(5): Show p.Gly37Val	ANXA6	ENSG00000197043.15	transcript	ENST00000354546.10	protein_coding	4/26	235/2889	110/2022	37/673	chr5	TogoVar
ANXA6_chr5_151095706_151162779	151140190	C C	G G	missense_variant missense_variant	MODERATE	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0160 a0002c0009t0001g0160	1	408	0.0025	c.72G others(2): Show c.72G>C	p.Gln others(5): Show p.Gln24His	ANXA6	ENSG00000197043.15	transcript	ENST00000354546.10	protein_coding	3/26	197/2889	72/2022	24/673	chr5	TogoVar
ANXA7_chr10_73370101_73419058	73378933	C C	T T	missense_variant missense_variant	MODERATE	HG00544.hp2 NA18971.hp2 NA18972.hp2 others(2): Show HG00544.hp2 NA18971.hp2 NA18972.hp2 NA18981.hp1 NA19078.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0045 a0002c0003t0001g0071 a0002c0003t0001g0143 others(2): Show a0002c0003t0001g0045 a0002c0003t0001g0071 a0002c0003t0001g0143 a0002c0003t0001g0162 a0002c0003t0001g0177	5	264	0.0189	c.125 others(4): Show c.1256G>A	p.Arg others(6): Show p.Arg419Gln	ANXA7	ENSG00000138279.16	transcript	ENST00000372921.10	protein_coding	12/13	1304/2443	1256/1401	419/466	chr10	TogoVar
ANXA7_chr10_73370101_73419058	73380143	C C	T T	missense_variant missense_variant	MODERATE	NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0017 a0003c0004t0001g0228 a0003c0004t0001g0017 a0003c0004t0001g0228	3	264	0.0114	c.977 others(3): Show c.977G>A	p.Arg others(6): Show p.Arg326His	ANXA7	ENSG00000138279.16	transcript	ENST00000372921.10	protein_coding	10/13	1025/2443	977/1401	326/466	chr10	TogoVar
ANXA7_chr10_73370101_73419058	73383230	T T	C C	missense_variant missense_variant	MODERATE	HG04204.hp1 HG04204.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0233 a0006c0008t0001g0233	1	264	0.0038	c.863 others(3): Show c.863A>G	p.Asp others(6): Show p.Asp288Gly	ANXA7	ENSG00000138279.16	transcript	ENST00000372921.10	protein_coding	9/13	911/2443	863/1401	288/466	chr10	TogoVar
ANXA7_chr10_73370101_73419058	73396526	G G	T T	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0021 a0005c0006t0006g0021	1	264	0.0038	c.428 others(3): Show c.428C>A	p.Pro others(6): Show p.Pro143His	ANXA7	ENSG00000138279.16	transcript	ENST00000372921.10	protein_coding	5/13	476/2443	428/1401	143/466	chr10	TogoVar
ANXA7_chr10_73370101_73419058	73400828	C C	T T	missense_variant missense_variant	MODERATE	HG02004.hp1 HG02004.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0144 a0004c0005t0001g0144	1	264	0.0038	c.29G others(2): Show c.29G>A	p.Gly others(5): Show p.Gly10Asp	ANXA7	ENSG00000138279.16	transcript	ENST00000372921.10	protein_coding	2/13	77/2443	29/1401	10/466	chr10	TogoVar
ANXA8L1_chr10_46370776_46396778	46379957	A A	C C	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02257.hp2	a0010 a0010	a0010c0021 a0010c0021	a0010c0021t0002 a0010c0021t0002	a0010c0021t0002g0084 a0010c0021t0002g0084	1	390	0.0026	c.94A others(2): Show c.94A>C	p.Lys others(5): Show p.Lys32Gln	ANXA8L1	ENSG00000264230.9	transcript	ENST00000619162.5	protein_coding	2/12	170/1908	94/984	32/327	chr10	TogoVar
ANXA8L1_chr10_46370776_46396778	46381194	C C	G G	missense_variant missense_variant	MODERATE	HG02630.hp1 HG03516.hp1 HG02630.hp1 HG03516.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0004 a0004c0010t0004	a0004c0010t0004g0096 a0004c0010t0004g0097 a0004c0010t0004g0096 a0004c0010t0004g0097	2	390	0.0051	c.161 others(3): Show c.161C>G	p.Thr others(5): Show p.Thr54Arg	ANXA8L1	ENSG00000264230.9	transcript	ENST00000619162.5	protein_coding	3/12	237/1908	161/984	54/327	chr10	TogoVar
ANXA8L1_chr10_46370776_46396778	46382663	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01884.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0001 a0009c0013t0001g0001	1	390	0.0026	c.292 others(3): Show c.292G>A	p.Glu others(5): Show p.Glu98Lys	ANXA8L1	ENSG00000264230.9	transcript	ENST00000619162.5	protein_coding	4/12	368/1908	292/984	98/327	chr10	TogoVar
ANXA8L1_chr10_46370776_46396778	46383535	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(78): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG01081.hp1 HG01123.hp2 HG01175.hp2 HG01255.hp2 HG01257.hp2 HG01358.hp1 HG01433.hp1 HG01934.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02523.hp1 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG03017.hp1 HG03239.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18945.hp1 NA18948.hp2 NA18957.hp1 NA18960.hp2 NA18967.hp1 NA18972.hp1 NA18978.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19064.hp1 NA19066.hp1 NA19072.hp1 NA19075.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0009 a0002c0019 others(1): Show a0002c0003 a0002c0009 a0002c0019 a0002c0020	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(4): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0009 a0002c0009t0001 a0002c0019t0001 a0002c0020t0001	a0002c0003t0001g0001 a0002c0003t0001g0010 a0002c0003t0001g0016 others(22): Show a0002c0003t0001g0001 a0002c0003t0001g0010 a0002c0003t0001g0016 a0002c0003t0001g0022 a0002c0003t0001g0030 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0040 a0002c0003t0001g0051 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0062 a0002c0003t0001g0065 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0076 a0002c0003t0001g0078 a0002c0003t0002g0064 a0002c0003t0003g0035 a0002c0003t0009g0010 a0002c0009t0001g0001 a0002c0019t0001g0066 a0002c0020t0001g0082	81	390	0.2077	c.401 others(3): Show c.401C>T	p.Ala others(6): Show p.Ala134Val	ANXA8L1	ENSG00000264230.9	transcript	ENST00000619162.5	protein_coding	5/12	477/1908	401/984	134/327	chr10	TogoVar
ANXA8L1_chr10_46370776_46396778	46384808	C C	T T	missense_variant missense_variant	MODERATE	HG01192.hp1 HG01884.hp2 HG01192.hp1 HG01884.hp2	a0007 a0009 a0007 a0009	a0007c0016 a0009c0013 a0007c0016 a0009c0013	a0007c0016t0001 a0009c0013t0001 a0007c0016t0001 a0009c0013t0001	a0007c0016t0001g0073 a0009c0013t0001g0001 a0007c0016t0001g0073 a0009c0013t0001g0001	2	390	0.0051	c.527 others(3): Show c.527C>T	p.Pro others(6): Show p.Pro176Leu	ANXA8L1	ENSG00000264230.9	transcript	ENST00000619162.5	protein_coding	7/12	603/1908	527/984	176/327	chr10	TogoVar
ANXA8L1_chr10_46370776_46396778	46384811	C C	G G	missense_variant missense_variant	MODERATE	HG02818.hp1 HG03130.hp2 HG02818.hp1 HG03130.hp2	a0005 a0005	a0005c0011 a0005c0014 a0005c0011 a0005c0014	a0005c0011t0004 a0005c0014t0001 a0005c0011t0004 a0005c0014t0001	a0005c0011t0004g0080 a0005c0014t0001g0058 a0005c0011t0004g0080 a0005c0014t0001g0058	2	390	0.0051	c.530 others(3): Show c.530C>G	p.Ala others(6): Show p.Ala177Gly	ANXA8L1	ENSG00000264230.9	transcript	ENST00000619162.5	protein_coding	7/12	606/1908	530/984	177/327	chr10	TogoVar
ANXA8L1_chr10_46370776_46396778	46384811	C C	T T	missense_variant missense_variant	MODERATE	HG03579.hp1 NA18522.hp1 HG03579.hp1 NA18522.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0039 a0006c0008t0001g0039	2	390	0.0051	c.530 others(3): Show c.530C>T	p.Ala others(6): Show p.Ala177Val	ANXA8L1	ENSG00000264230.9	transcript	ENST00000619162.5	protein_coding	7/12	606/1908	530/984	177/327	chr10	TogoVar
ANXA8L1_chr10_46370776_46396778	46385398	G G	A A	missense_variant missense_variant	MODERATE	NA19075.hp2 NA19075.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0003 a0008c0017t0003	a0008c0017t0003g0032 a0008c0017t0003g0032	1	390	0.0026	c.571 others(3): Show c.571G>A	p.Glu others(6): Show p.Glu191Lys	ANXA8L1	ENSG00000264230.9	transcript	ENST00000619162.5	protein_coding	8/12	647/1908	571/984	191/327	chr10	TogoVar
ANXA8L1_chr10_46370776_46396778	46385403	G G	T T	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00639.hp1 HG00733.hp1 others(45): Show HG00323.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01109.hp2 HG01243.hp1 HG01255.hp1 HG01943.hp2 HG01993.hp1 HG02056.hp2 HG02109.hp2 HG02145.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03540.hp2 HG04228.hp1 NA18906.hp1 NA18945.hp2 NA18953.hp1 NA18955.hp1 NA18962.hp1 NA18967.hp2 NA18973.hp1 NA18987.hp1 NA19001.hp1 NA19063.hp1 NA19070.hp1 NA19070.hp2 NA19075.hp2 NA19079.hp1 NA20129.hp1	a0003 a0008 a0003 a0008	a0003c0004 a0003c0006 a0003c0012 others(2): Show a0003c0004 a0003c0006 a0003c0012 a0003c0018 a0008c0017	a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 others(7): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0006t0005 a0003c0006t0008 a0003c0006t0012 a0003c0012t0005 a0003c0018t0003 a0008c0017t0003	a0003c0004t0001g0009 a0003c0004t0001g0126 a0003c0004t0002g0129 others(25): Show a0003c0004t0001g0009 a0003c0004t0001g0126 a0003c0004t0002g0129 a0003c0004t0003g0015 a0003c0004t0003g0028 a0003c0004t0003g0029 a0003c0004t0003g0049 a0003c0004t0003g0120 a0003c0004t0003g0123 a0003c0004t0003g0124 a0003c0004t0003g0127 a0003c0004t0003g0128 a0003c0004t0003g0130 a0003c0004t0003g0133 a0003c0004t0003g0134 a0003c0004t0003g0139 a0003c0004t0004g0125 a0003c0004t0004g0131 a0003c0004t0004g0132 a0003c0006t0005g0007 a0003c0006t0005g0122 a0003c0006t0005g0136 a0003c0006t0008g0121 a0003c0006t0008g0135 a0003c0006t0012g0138 a0003c0012t0005g0137 a0003c0018t0003g0032 a0008c0017t0003g0032	48	390	0.1231	c.576 others(3): Show c.576G>T	p.Lys others(6): Show p.Lys192Asn	ANXA8L1	ENSG00000264230.9	transcript	ENST00000619162.5	protein_coding	8/12	652/1908	576/984	192/327	chr10	TogoVar

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