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
ARAP2_chr4_36061004_36249514	36229155	C C	T T	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0017 a0009c0014t0017	a0009c0014t0017g0088 a0009c0014t0017g0088	1	278	0.0036	c.332 others(3): Show c.332G>A	p.Ser others(6): Show p.Ser111Asn	ARAP2	ENSG00000047365.13	transcript	ENST00000303965.9	protein_coding	2/33	827/7513	332/5115	111/1704	chr4	TogoVar
ARAP2_chr4_36061004_36249514	36229221	G G	A A	missense_variant missense_variant	MODERATE	HG03654.hp2 HG03654.hp2	a0008 a0008	a0008c0027 a0008c0027	a0008c0027t0003 a0008c0027t0003	a0008c0027t0003g0048 a0008c0027t0003g0048	1	278	0.0036	c.266 others(3): Show c.266C>T	p.Pro others(5): Show p.Pro89Leu	ARAP2	ENSG00000047365.13	transcript	ENST00000303965.9	protein_coding	2/33	761/7513	266/5115	89/1704	chr4	TogoVar
ARAP3_chr5_141648402_141687230	141654256	C C	A A	missense_variant missense_variant	MODERATE	HG02976.hp1 HG03471.hp1 HG02976.hp1 HG03471.hp1	a0010 a0010	a0010c0047 a0010c0049 a0010c0047 a0010c0049	a0010c0047t0001 a0010c0049t0001 a0010c0047t0001 a0010c0049t0001	a0010c0047t0001g0100 a0010c0049t0001g0094 a0010c0047t0001g0100 a0010c0049t0001g0094	2	416	0.0048	c.432 others(4): Show c.4329G>T	p.Lys others(7): Show p.Lys1443Asn	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	33/33	4404/5258	4329/4635	1443/1544	chr5	TogoVar
ARAP3_chr5_141648402_141687230	141654303	T T	G G	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp1 HG00639.hp2 others(4): Show HG00140.hp2 HG00280.hp1 HG00639.hp2 HG00735.hp2 HG01123.hp1 HG01192.hp2 HG01346.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0046 a0003c0010t0001g0047 a0003c0010t0001g0062 others(2): Show a0003c0010t0001g0046 a0003c0010t0001g0047 a0003c0010t0001g0062 a0003c0010t0001g0210 a0003c0010t0001g0221	7	416	0.0168	c.428 others(4): Show c.4282A>C	p.Thr others(7): Show p.Thr1428Pro	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	33/33	4357/5258	4282/4635	1428/1544	chr5	TogoVar
ARAP3_chr5_141648402_141687230	141655631	T T	C C	missense_variant missense_variant	MODERATE	NA18986.hp1 NA18986.hp1	a0017 a0017	a0017c0050 a0017c0050	a0017c0050t0001 a0017c0050t0001	a0017c0050t0001g0214 a0017c0050t0001g0214	1	416	0.0024	c.410 others(4): Show c.4100A>G	p.Asn others(7): Show p.Asn1367Ser	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	31/33	4175/5258	4100/4635	1367/1544	chr5	TogoVar
ARAP3_chr5_141648402_141687230	141656198	T T	C C	missense_variant missense_variant	MODERATE	HG04184.hp1 HG04184.hp1	a0016 a0016	a0016c0040 a0016c0040	a0016c0040t0001 a0016c0040t0001	a0016c0040t0001g0060 a0016c0040t0001g0060	1	416	0.0024	c.386 others(4): Show c.3868A>G	p.Thr others(7): Show p.Thr1290Ala	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	28/33	3943/5258	3868/4635	1290/1544	chr5	TogoVar
ARAP3_chr5_141648402_141687230	141656532	C C	T T	missense_variant missense_variant	MODERATE	HG00673.hp2 NA18965.hp2 NA18966.hp1 others(6): Show HG00673.hp2 NA18965.hp2 NA18966.hp1 NA18980.hp2 NA18990.hp2 NA18994.hp2 NA19005.hp2 NA19083.hp2 NA19091.hp1	a0004 a0007 a0021 a0004 a0007 a0021	a0004c0012 a0007c0019 a0021c0032 a0004c0012 a0007c0019 a0021c0032	a0004c0012t0001 a0007c0019t0001 a0021c0032t0001 a0004c0012t0001 a0007c0019t0001 a0021c0032t0001	a0004c0012t0001g0028 a0004c0012t0001g0107 a0004c0012t0001g0116 others(5): Show a0004c0012t0001g0028 a0004c0012t0001g0107 a0004c0012t0001g0116 a0004c0012t0001g0117 a0007c0019t0001g0222 a0007c0019t0001g0223 a0007c0019t0001g0224 a0021c0032t0001g0125	9	416	0.0216	c.376 others(4): Show c.3761G>A	p.Arg others(7): Show p.Arg1254His	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	27/33	3836/5258	3761/4635	1254/1544	chr5	TogoVar
ARAP3_chr5_141648402_141687230	141656629	G G	A A	missense_variant missense_variant	MODERATE	NA19066.hp2 NA19066.hp2	a0015 a0015	a0015c0048 a0015c0048	a0015c0048t0001 a0015c0048t0001	a0015c0048t0001g0080 a0015c0048t0001g0080	1	416	0.0024	c.366 others(4): Show c.3664C>T	p.Arg others(7): Show p.Arg1222Cys	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	27/33	3739/5258	3664/4635	1222/1544	chr5	TogoVar
ARAP3_chr5_141648402_141687230	141658384	A A	C C	missense_variant missense_variant	MODERATE	HG03098.hp2 HG03225.hp1 NA20129.hp1 HG03098.hp2 HG03225.hp1 NA20129.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0205 a0008c0017t0001g0206 a0008c0017t0001g0207 a0008c0017t0001g0205 a0008c0017t0001g0206 a0008c0017t0001g0207	3	416	0.0072	c.350 others(4): Show c.3507T>G	p.Ile others(7): Show p.Ile1169Met	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	25/33	3582/5258	3507/4635	1169/1544	chr5	TogoVar
ARAP3_chr5_141648402_141687230	141659840	C C	A A	missense_variant missense_variant	MODERATE	NA18939.hp1 NA18939.hp1	a0014 a0014	a0014c0037 a0014c0037	a0014c0037t0001 a0014c0037t0001	a0014c0037t0001g0167 a0014c0037t0001g0167	1	416	0.0024	c.320 others(4): Show c.3206G>T	p.Arg others(7): Show p.Arg1069Leu	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	22/33	3281/5258	3206/4635	1069/1544	chr5	TogoVar
ARAP3_chr5_141648402_141687230	141661751	C C	A A	missense_variant missense_variant	MODERATE	HG02300.hp2 HG02300.hp2	a0018 a0018	a0018c0045 a0018c0045	a0018c0045t0001 a0018c0045t0001	a0018c0045t0001g0218 a0018c0045t0001g0218	1	416	0.0024	c.305 others(4): Show c.3052G>T	p.Asp others(7): Show p.Asp1018Tyr	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	21/33	3127/5258	3052/4635	1018/1544	chr5	TogoVar
ARAP3_chr5_141648402_141687230	141662178	C C	T T	missense_variant missense_variant	MODERATE	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0011 a0011	a0011c0024 a0011c0024	a0011c0024t0001 a0011c0024t0001	a0011c0024t0001g0042 a0011c0024t0001g0042	2	416	0.0048	c.287 others(4): Show c.2878G>A	p.Asp others(6): Show p.Asp960Asn	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	20/33	2953/5258	2878/4635	960/1544	chr5	TogoVar
ARAP3_chr5_141648402_141687230	141669750	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp1	a0019 a0019	a0019c0046 a0019c0046	a0019c0046t0001 a0019c0046t0001	a0019c0046t0001g0067 a0019c0046t0001g0067	1	416	0.0024	c.231 others(4): Show c.2311G>A	p.Gly others(6): Show p.Gly771Arg	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	16/33	2386/5258	2311/4635	771/1544	chr5	TogoVar
ARAP3_chr5_141648402_141687230	141669947	G G	A A	missense_variant missense_variant	MODERATE	HG01433.hp2 HG01433.hp2	a0020 a0020	a0020c0041 a0020c0041	a0020c0041t0001 a0020c0041t0001	a0020c0041t0001g0265 a0020c0041t0001g0265	1	416	0.0024	c.222 others(4): Show c.2224C>T	p.Pro others(6): Show p.Pro742Ser	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	15/33	2299/5258	2224/4635	742/1544	chr5	TogoVar
ARAP3_chr5_141648402_141687230	141672841	G G	T T	missense_variant missense_variant	MODERATE	HG02735.hp2 HG03654.hp1 HG03669.hp1 HG02735.hp2 HG03654.hp1 HG03669.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0001 a0006c0015t0001	a0006c0015t0001g0039 a0006c0015t0001g0176 a0006c0015t0001g0039 a0006c0015t0001g0176	3	416	0.0072	c.117 others(4): Show c.1178C>A	p.Pro others(6): Show p.Pro393His	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	8/33	1253/5258	1178/4635	393/1544	chr5	TogoVar
ARAP3_chr5_141648402_141687230	141673419	C C	T T	missense_variant missense_variant	MODERATE	HG01891.hp2 HG01891.hp2	a0013 a0013	a0013c0036 a0013c0036	a0013c0036t0001 a0013c0036t0001	a0013c0036t0001g0168 a0013c0036t0001g0168	1	416	0.0024	c.954 others(3): Show c.954G>A	p.Met others(6): Show p.Met318Ile	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	6/33	1029/5258	954/4635	318/1544	chr5	TogoVar
ARAP3_chr5_141648402_141687230	141673693	G G	A A	missense_variant missense_variant	MODERATE	HG01243.hp2 HG01243.hp2	a0012 a0012	a0012c0035 a0012c0035	a0012c0035t0001 a0012c0035t0001	a0012c0035t0001g0146 a0012c0035t0001g0146	1	416	0.0024	c.814 others(3): Show c.814C>T	p.Leu others(6): Show p.Leu272Phe	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	5/33	889/5258	814/4635	272/1544	chr5	TogoVar
ARAP3_chr5_141648402_141687230	141679591	C C	G G	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00438.hp1 HG00609.hp2 others(38): Show HG00323.hp1 HG00438.hp1 HG00609.hp2 HG00738.hp1 HG01257.hp1 HG01258.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02135.hp2 HG02257.hp1 HG02273.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18941.hp1 NA18954.hp2 NA18965.hp2 NA18972.hp2 NA18979.hp2 NA18980.hp2 NA18990.hp2 NA18994.hp2 NA18999.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19012.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19066.hp1 NA19082.hp2 NA19083.hp2	a0002 a0004 a0021 a0002 a0004 a0021	a0002c0004 a0002c0030 a0002c0031 others(2): Show a0002c0004 a0002c0030 a0002c0031 a0004c0012 a0021c0032	a0002c0004t0001 a0002c0030t0001 a0002c0031t0001 others(2): Show a0002c0004t0001 a0002c0030t0001 a0002c0031t0001 a0004c0012t0001 a0021c0032t0001	a0002c0004t0001g0009 a0002c0004t0001g0015 a0002c0004t0001g0029 others(30): Show a0002c0004t0001g0009 a0002c0004t0001g0015 a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0004t0001g0105 a0002c0004t0001g0108 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0111 a0002c0004t0001g0112 a0002c0004t0001g0113 a0002c0004t0001g0114 a0002c0004t0001g0115 a0002c0004t0001g0118 a0002c0004t0001g0119 a0002c0004t0001g0120 a0002c0004t0001g0121 a0002c0004t0001g0122 a0002c0004t0001g0123 a0002c0004t0001g0126 a0002c0004t0001g0127 a0002c0004t0001g0128 a0002c0004t0001g0285 a0002c0004t0001g0286 a0002c0004t0001g0287 a0002c0004t0001g0288 a0002c0030t0001g0124 a0002c0031t0001g0106 a0004c0012t0001g0028 a0004c0012t0001g0107 a0004c0012t0001g0116 a0004c0012t0001g0117 a0021c0032t0001g0125	41	416	0.0986	c.652 others(3): Show c.652G>C	p.Asp others(6): Show p.Asp218His	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	4/33	727/5258	652/4635	218/1544	chr5	TogoVar
ARAP3_chr5_141648402_141687230	141679793	G G	T T	missense_variant missense_variant	MODERATE	HG01346.hp1 HG02818.hp1 HG03453.hp2 HG01346.hp1 HG02818.hp1 HG03453.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0102 a0005c0014t0001g0103 a0005c0014t0001g0104 a0005c0014t0001g0102 a0005c0014t0001g0103 a0005c0014t0001g0104	3	416	0.0072	c.554 others(3): Show c.554C>A	p.Pro others(6): Show p.Pro185His	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	3/33	629/5258	554/4635	185/1544	chr5	TogoVar
ARAP3_chr5_141648402_141687230	141680003	C C	T T	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0022 a0022	a0022c0039 a0022c0039	a0022c0039t0001 a0022c0039t0001	a0022c0039t0001g0201 a0022c0039t0001g0201	1	416	0.0024	c.484 others(3): Show c.484G>A	p.Gly others(6): Show p.Gly162Ser	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	2/33	559/5258	484/4635	162/1544	chr5	TogoVar
ARCN1_chr11_118567409_118608033	118581258	G G	T T	missense_variant missense_variant	MODERATE	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0019 a0002c0005t0019	a0002c0005t0019g0326 a0002c0005t0019g0326	1	368	0.0027	c.16G others(2): Show c.16G>T	p.Ala others(4): Show p.Ala6Ser	ARCN1	ENSG00000095139.15	transcript	ENST00000264028.5	protein_coding	2/10	155/3994	16/1536	6/511	chr11	TogoVar
ARC_chr8_142606049_142619479	142613634	A A	T T	missense_variant missense_variant	MODERATE	NA19060.hp1 NA19060.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0027 a0004c0009t0003g0027	1	420	0.0024	c.638 others(3): Show c.638T>A	p.Ile others(6): Show p.Ile213Asn	ARC	ENSG00000198576.4	transcript	ENST00000356613.4	protein_coding	1/3	846/2950	638/1191	213/396	chr8	TogoVar
ARC_chr8_142606049_142619479	142613667	T T	A A	missense_variant missense_variant	MODERATE	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0025 a0003c0006t0002g0025	2	420	0.0048	c.605 others(3): Show c.605A>T	p.Asp others(6): Show p.Asp202Val	ARC	ENSG00000198576.4	transcript	ENST00000356613.4	protein_coding	1/3	813/2950	605/1191	202/396	chr8	TogoVar
AREG_chr4_74440136_74460005	74445374	C C	T T	missense_variant missense_variant	MODERATE	HG03704.hp2 HG03831.hp2 NA20905.hp2 HG03704.hp2 HG03831.hp2 NA20905.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0019 a0002c0004t0004g0019	3	428	0.0070	c.29C others(2): Show c.29C>T	p.Pro others(5): Show p.Pro10Leu	AREG	ENSG00000109321.11	transcript	ENST00000395748.8	protein_coding	1/6	239/1234	29/759	10/252	chr4	TogoVar
AREG_chr4_74440136_74460005	74446570	A A	G G	missense_variant missense_variant	MODERATE	HG03704.hp2 HG03831.hp2 NA20905.hp2 HG03704.hp2 HG03831.hp2 NA20905.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0019 a0002c0004t0004g0019	3	428	0.0070	c.98A others(2): Show c.98A>G	p.Tyr others(5): Show p.Tyr33Cys	AREG	ENSG00000109321.11	transcript	ENST00000395748.8	protein_coding	2/6	308/1234	98/759	33/252	chr4	TogoVar
AREG_chr4_74440136_74460005	74450489	A A	C C	missense_variant missense_variant	MODERATE	HG00738.hp2 HG00738.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0004 a0003c0006t0001g0004	1	428	0.0023	c.622 others(3): Show c.622A>C	p.Met others(6): Show p.Met208Leu	AREG	ENSG00000109321.11	transcript	ENST00000395748.8	protein_coding	4/6	832/1234	622/759	208/252	chr4	TogoVar
AREL1_chr14_74656256_74718080	74669719	T T	C C	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0241 a0004c0010t0002g0241	1	374	0.0027	c.184 others(4): Show c.1844A>G	p.Asn others(6): Show p.Asn615Ser	AREL1	ENSG00000119682.18	transcript	ENST00000356357.9	protein_coding	15/20	2325/5417	1844/2472	615/823	chr14	TogoVar
AREL1_chr14_74656256_74718080	74670102	C C	T T	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02630.hp2 NA19030.hp1 others(1): Show HG02145.hp2 HG02630.hp2 NA19030.hp1 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0015 a0003c0003t0011g0152 a0003c0003t0011g0153 a0003c0003t0011g0015 a0003c0003t0011g0152 a0003c0003t0011g0153	4	374	0.0107	c.163 others(4): Show c.1633G>A	p.Ala others(6): Show p.Ala545Thr	AREL1	ENSG00000119682.18	transcript	ENST00000356357.9	protein_coding	14/20	2114/5417	1633/2472	545/823	chr14	TogoVar
AREL1_chr14_74656256_74718080	74670788	G G	A A	missense_variant missense_variant	MODERATE	HG00735.hp2 HG00735.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0147 a0005c0011t0001g0147	1	374	0.0027	c.158 others(4): Show c.1582C>T	p.Arg others(6): Show p.Arg528Trp	AREL1	ENSG00000119682.18	transcript	ENST00000356357.9	protein_coding	13/20	2063/5417	1582/2472	528/823	chr14	TogoVar
AREL1_chr14_74656256_74718080	74676206	T T	C C	missense_variant missense_variant	MODERATE	NA18949.hp1 NA18964.hp1 NA18973.hp2 others(4): Show NA18949.hp1 NA18964.hp1 NA18973.hp2 NA18986.hp1 NA19011.hp2 NA19070.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0009 a0002c0002t0006g0024 a0002c0002t0006g0025 others(3): Show a0002c0002t0006g0009 a0002c0002t0006g0024 a0002c0002t0006g0025 a0002c0002t0006g0067 a0002c0002t0006g0068 a0002c0002t0006g0069	7	374	0.0187	c.767 others(3): Show c.767A>G	p.His others(6): Show p.His256Arg	AREL1	ENSG00000119682.18	transcript	ENST00000356357.9	protein_coding	7/20	1248/5417	767/2472	256/823	chr14	TogoVar
ARFGAP1_chr20_63267813_63294790	63276629	C C	T T	missense_variant missense_variant	MODERATE	HG01261.hp2 HG01261.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0165 a0007c0011t0001g0165	1	342	0.0029	c.320 others(3): Show c.320C>T	p.Ala others(6): Show p.Ala107Val	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding	4/13	432/3250	320/1221	107/406	chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63277226	A A	G G	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02280.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0065 a0006c0010t0001g0065	1	342	0.0029	c.364 others(3): Show c.364A>G	p.Arg others(6): Show p.Arg122Gly	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding	5/13	476/3250	364/1221	122/406	chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63277245	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp2 HG01517.hp1 HG00280.hp2 HG01517.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0001 a0003c0006t0001g0002 a0003c0006t0001g0001 a0003c0006t0001g0002	2	342	0.0059	c.383 others(3): Show c.383C>T	p.Ser others(6): Show p.Ser128Leu	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding	5/13	495/3250	383/1221	128/406	chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63278190	G G	A A	missense_variant missense_variant	MODERATE	HG02040.hp1 HG02132.hp1 HG02040.hp1 HG02132.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0001 a0005c0004t0001g0001	2	342	0.0059	c.517 others(3): Show c.517G>A	p.Gly others(6): Show p.Gly173Ser	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding	6/13	629/3250	517/1221	173/406	chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63278918	G G	A A	missense_variant missense_variant	MODERATE	HG02004.hp1 NA20129.hp1 HG02004.hp1 NA20129.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0148 a0004c0005t0001g0166 a0004c0005t0001g0148 a0004c0005t0001g0166	2	342	0.0059	c.550 others(3): Show c.550G>A	p.Val others(6): Show p.Val184Met	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding	7/13	662/3250	550/1221	184/406	chr20	TogoVar
ARFGAP2_chr11_47159301_47181879	47165493	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0123 a0007c0007t0001g0123	1	374	0.0027	c.155 others(4): Show c.1555G>A	p.Gly others(6): Show p.Gly519Ser	ARFGAP2	ENSG00000149182.15	transcript	ENST00000524782.6	protein_coding	16/16	1581/2773	1555/1566	519/521	chr11	TogoVar
ARFGAP2_chr11_47159301_47181879	47166512	C C	T T	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02572.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0147 a0009c0010t0001g0147	1	374	0.0027	c.142 others(4): Show c.1420G>A	p.Gly others(6): Show p.Gly474Arg	ARFGAP2	ENSG00000149182.15	transcript	ENST00000524782.6	protein_coding	14/16	1446/2773	1420/1566	474/521	chr11	TogoVar
ARFGAP2_chr11_47159301_47181879	47166777	G G	A A	missense_variant missense_variant	MODERATE	HG03516.hp1 HG03516.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0102 a0008c0008t0001g0102	1	374	0.0027	c.131 others(4): Show c.1315C>T	p.Arg others(6): Show p.Arg439Trp	ARFGAP2	ENSG00000149182.15	transcript	ENST00000524782.6	protein_coding	13/16	1341/2773	1315/1566	439/521	chr11	TogoVar
ARFGAP2_chr11_47159301_47181879	47166837	T T	C C	missense_variant missense_variant	MODERATE	HG02015.hp1 HG02015.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0117 a0006c0009t0001g0117	1	374	0.0027	c.125 others(4): Show c.1255A>G	p.Ser others(6): Show p.Ser419Gly	ARFGAP2	ENSG00000149182.15	transcript	ENST00000524782.6	protein_coding	13/16	1281/2773	1255/1566	419/521	chr11	TogoVar
ARFGAP2_chr11_47159301_47181879	47166860	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00438.hp1 others(125): Show HG00099.hp1 HG00099.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18942.hp2 NA18949.hp1 NA18960.hp2 NA18964.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp2 NA18990.hp2 NA18995.hp2 NA19005.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19068.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0002 a0006 a0007 others(4): Show a0002 a0006 a0007 a0008 a0010 a0011 a0012	a0002c0002 a0002c0012 a0002c0014 others(6): Show a0002c0002 a0002c0012 a0002c0014 a0006c0009 a0007c0007 a0008c0008 a0010c0006 a0011c0005 a0012c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(12): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0010 a0002c0002t0012 a0002c0002t0015 a0002c0012t0002 a0002c0014t0001 a0006c0009t0001 a0007c0007t0001 a0008c0008t0001 a0010c0006t0014 a0011c0005t0001 a0012c0013t0001	a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0010 others(57): Show a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0045 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0097 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0002g0024 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0091 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0114 a0002c0002t0002g0122 a0002c0002t0002g0131 a0002c0002t0003g0008 a0002c0002t0003g0009 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0090 a0002c0002t0003g0092 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0007g0124 a0002c0002t0007g0130 a0002c0002t0010g0129 a0002c0002t0012g0128 a0002c0002t0015g0054 a0002c0012t0002g0047 a0002c0014t0001g0156 a0006c0009t0001g0117 a0007c0007t0001g0123 a0008c0008t0001g0102 a0010c0006t0014g0120 a0011c0005t0001g0119 a0012c0013t0001g0111	128	374	0.3423	c.123 others(4): Show c.1232G>A	p.Ser others(6): Show p.Ser411Asn	ARFGAP2	ENSG00000149182.15	transcript	ENST00000524782.6	protein_coding	13/16	1258/2773	1232/1566	411/521	chr11	TogoVar
ARFGAP2_chr11_47159301_47181879	47166876	G G	A A	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02451.hp1	a0010 a0010	a0010c0006 a0010c0006	a0010c0006t0014 a0010c0006t0014	a0010c0006t0014g0120 a0010c0006t0014g0120	1	374	0.0027	c.121 others(4): Show c.1216C>T	p.Arg others(6): Show p.Arg406Trp	ARFGAP2	ENSG00000149182.15	transcript	ENST00000524782.6	protein_coding	13/16	1242/2773	1216/1566	406/521	chr11	TogoVar
ARFGAP2_chr11_47159301_47181879	47168177	C C	T T	missense_variant missense_variant	MODERATE	HG02818.hp2 HG03225.hp1 HG03579.hp1 HG02818.hp2 HG03225.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0008 a0003c0003t0002 a0003c0003t0008	a0003c0003t0002g0155 a0003c0003t0002g0158 a0003c0003t0008g0154 a0003c0003t0002g0155 a0003c0003t0002g0158 a0003c0003t0008g0154	3	374	0.0080	c.101 others(4): Show c.1016G>A	p.Arg others(6): Show p.Arg339His	ARFGAP2	ENSG00000149182.15	transcript	ENST00000524782.6	protein_coding	11/16	1042/2773	1016/1566	339/521	chr11	TogoVar
ARFGAP2_chr11_47159301_47181879	47168180	G G	C C	missense_variant missense_variant	MODERATE	NA19088.hp1 NA19088.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0062 a0005c0011t0002g0062	1	374	0.0027	c.101 others(4): Show c.1013C>G	p.Ser others(6): Show p.Ser338Cys	ARFGAP2	ENSG00000149182.15	transcript	ENST00000524782.6	protein_coding	11/16	1039/2773	1013/1566	338/521	chr11	TogoVar
ARFGAP2_chr11_47159301_47181879	47171799	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03927.hp1 HG03927.hp1	a0011 a0011	a0011c0005 a0011c0005	a0011c0005t0001 a0011c0005t0001	a0011c0005t0001g0119 a0011c0005t0001g0119	1	374	0.0027	c.674 others(3): Show c.674T>C	p.Leu others(6): Show p.Leu225Pro	ARFGAP2	ENSG00000149182.15	transcript	ENST00000524782.6	protein_coding	9/16	700/2773	674/1566	225/521	chr11	TogoVar
ARFGAP2_chr11_47159301_47181879	47173479	G G	C C	missense_variant missense_variant	MODERATE	NA19068.hp2 NA19068.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0111 a0012c0013t0001g0111	1	374	0.0027	c.566 others(3): Show c.566C>G	p.Pro others(6): Show p.Pro189Arg	ARFGAP2	ENSG00000149182.15	transcript	ENST00000524782.6	protein_coding	7/16	592/2773	566/1566	189/521	chr11	TogoVar
ARFGAP2_chr11_47159301_47181879	47176595	T T	C C	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02559.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0002 a0004c0015t0002	a0004c0015t0002g0157 a0004c0015t0002g0157	1	374	0.0027	c.112 others(3): Show c.112A>G	p.Ser others(5): Show p.Ser38Gly	ARFGAP2	ENSG00000149182.15	transcript	ENST00000524782.6	protein_coding	2/16	138/2773	112/1566	38/521	chr11	TogoVar
ARFGAP3_chr22_42791502_42862273	42799103	T T	C C	missense_variant missense_variant	MODERATE	HG01517.hp1 NA20805.hp2 HG01517.hp1 NA20805.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0276 a0008c0012t0001g0284 a0008c0012t0001g0276 a0008c0012t0001g0284	2	362	0.0055	c.146 others(4): Show c.1469A>G	p.Gln others(6): Show p.Gln490Arg	ARFGAP3	ENSG00000242247.11	transcript	ENST00000263245.10	protein_coding	15/16	1560/2728	1469/1551	490/516	chr22	TogoVar
ARFGAP3_chr22_42791502_42862273	42799108	G G	C C	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02451.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0001	a0011c0018t0001g0306 a0011c0018t0001g0306	1	362	0.0028	c.146 others(4): Show c.1464C>G	p.Phe others(6): Show p.Phe488Leu	ARFGAP3	ENSG00000242247.11	transcript	ENST00000263245.10	protein_coding	15/16	1555/2728	1464/1551	488/516	chr22	TogoVar
ARFGAP3_chr22_42791502_42862273	42799128	C C	T T	missense_variant missense_variant	MODERATE	HG01243.hp2 HG02258.hp2 HG03195.hp1 others(2): Show HG01243.hp2 HG02258.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0133 a0006c0007t0001g0134 a0006c0007t0001g0135 others(2): Show a0006c0007t0001g0133 a0006c0007t0001g0134 a0006c0007t0001g0135 a0006c0007t0001g0136 a0006c0007t0001g0202	5	362	0.0138	c.144 others(4): Show c.1444G>A	p.Ala others(6): Show p.Ala482Thr	ARFGAP3	ENSG00000242247.11	transcript	ENST00000263245.10	protein_coding	15/16	1535/2728	1444/1551	482/516	chr22	TogoVar
ARFGAP3_chr22_42791502_42862273	42807147	C C	T T	missense_variant missense_variant	MODERATE	HG01346.hp2 HG01346.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0280 a0010c0017t0001g0280	1	362	0.0028	c.133 others(4): Show c.1337G>A	p.Arg others(6): Show p.Arg446His	ARFGAP3	ENSG00000242247.11	transcript	ENST00000263245.10	protein_coding	14/16	1428/2728	1337/1551	446/516	chr22	TogoVar

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