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
ARHGAP8_chr22_44747575_44867784	44862420	A A	G G	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0026 a0026	a0026c0059 a0026c0059	a0026c0059t0005 a0026c0059t0005	a0026c0059t0005g0013 a0026c0059t0005g0013	1	390	0.0026	c.112 others(4): Show c.1127A>G	p.Tyr others(6): Show p.Tyr376Cys	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	12/12	1251/1615	1127/1302	376/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44862444	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(98): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02080.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02486.hp1 HG02572.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03492.hp1 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp2 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19079.hp1 NA19081.hp2 NA19085.hp1 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0003 a0004 a0007 others(4): Show a0003 a0004 a0007 a0017 a0021 a0023 a0028	a0003c0002 a0003c0005 a0003c0034 others(16): Show a0003c0002 a0003c0005 a0003c0034 a0003c0036 a0003c0042 a0003c0062 a0003c0070 a0003c0080 a0004c0012 a0004c0017 a0004c0058 a0007c0022 a0007c0044 a0007c0049 a0007c0071 a0017c0053 a0021c0063 a0023c0061 a0028c0077	a0003c0002t0002 a0003c0005t0002 a0003c0005t0012 others(19): Show a0003c0002t0002 a0003c0005t0002 a0003c0005t0012 a0003c0005t0014 a0003c0034t0002 a0003c0036t0002 a0003c0042t0002 a0003c0062t0002 a0003c0070t0002 a0003c0080t0002 a0004c0012t0002 a0004c0012t0015 a0004c0017t0002 a0004c0058t0002 a0007c0022t0006 a0007c0044t0006 a0007c0049t0006 a0007c0071t0006 a0017c0053t0002 a0021c0063t0002 a0023c0061t0002 a0028c0077t0006	a0003c0002t0002g0008 a0003c0002t0002g0026 a0003c0002t0002g0032 others(98): Show a0003c0002t0002g0008 a0003c0002t0002g0026 a0003c0002t0002g0032 a0003c0002t0002g0054 a0003c0002t0002g0084 a0003c0002t0002g0092 a0003c0002t0002g0094 a0003c0002t0002g0096 a0003c0002t0002g0099 a0003c0002t0002g0100 a0003c0002t0002g0101 a0003c0002t0002g0123 a0003c0002t0002g0126 a0003c0002t0002g0135 a0003c0002t0002g0144 a0003c0002t0002g0176 a0003c0002t0002g0178 a0003c0002t0002g0189 a0003c0002t0002g0195 a0003c0002t0002g0197 a0003c0002t0002g0206 a0003c0002t0002g0213 a0003c0002t0002g0222 a0003c0002t0002g0223 a0003c0002t0002g0227 a0003c0002t0002g0228 a0003c0002t0002g0235 a0003c0002t0002g0236 a0003c0002t0002g0248 a0003c0002t0002g0249 a0003c0002t0002g0254 a0003c0002t0002g0269 a0003c0002t0002g0272 a0003c0002t0002g0273 a0003c0002t0002g0282 a0003c0002t0002g0285 a0003c0002t0002g0329 a0003c0002t0002g0345 a0003c0005t0002g0003 a0003c0005t0002g0005 a0003c0005t0002g0009 a0003c0005t0002g0027 a0003c0005t0002g0036 a0003c0005t0002g0053 a0003c0005t0002g0082 a0003c0005t0002g0083 a0003c0005t0002g0090 a0003c0005t0002g0095 a0003c0005t0002g0121 a0003c0005t0002g0133 a0003c0005t0002g0171 a0003c0005t0002g0175 a0003c0005t0002g0186 a0003c0005t0002g0193 a0003c0005t0002g0194 a0003c0005t0002g0208 a0003c0005t0002g0210 a0003c0005t0002g0215 a0003c0005t0002g0241 a0003c0005t0002g0252 a0003c0005t0002g0258 a0003c0005t0002g0278 a0003c0005t0002g0296 a0003c0005t0002g0306 a0003c0005t0002g0325 a0003c0005t0002g0330 a0003c0005t0002g0369 a0003c0005t0002g0372 a0003c0005t0002g0377 a0003c0005t0012g0087 a0003c0005t0012g0166 a0003c0005t0014g0112 a0003c0034t0002g0160 a0003c0034t0002g0167 a0003c0036t0002g0078 a0003c0036t0002g0145 a0003c0042t0002g0366 a0003c0062t0002g0255 a0003c0070t0002g0146 a0003c0080t0002g0147 a0004c0012t0002g0172 a0004c0012t0002g0233 a0004c0012t0002g0244 a0004c0012t0002g0297 a0004c0012t0002g0328 a0004c0012t0015g0218 a0004c0017t0002g0025 a0004c0017t0002g0130 a0004c0017t0002g0183 a0004c0017t0002g0259 a0004c0058t0002g0148 a0007c0022t0006g0048 a0007c0022t0006g0358 a0007c0022t0006g0361 a0007c0044t0006g0020 a0007c0049t0006g0056 a0007c0071t0006g0320 a0017c0053t0002g0307 a0021c0063t0002g0004 a0023c0061t0002g0015 a0028c0077t0006g0068	101	390	0.2590	c.115 others(4): Show c.1151C>T	p.Pro others(6): Show p.Pro384Leu	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	12/12	1275/1615	1151/1302	384/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44862453	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG01099.hp2 HG01192.hp2 others(4): Show HG00099.hp2 HG01099.hp2 HG01192.hp2 HG01255.hp1 HG01516.hp1 HG03710.hp2 HG06807.hp1	a0008 a0025 a0008 a0025	a0008c0014 a0008c0033 a0025c0067 a0008c0014 a0008c0033 a0025c0067	a0008c0014t0005 a0008c0033t0005 a0025c0067t0001 a0008c0014t0005 a0008c0033t0005 a0025c0067t0001	a0008c0014t0005g0022 a0008c0014t0005g0152 a0008c0014t0005g0264 others(4): Show a0008c0014t0005g0022 a0008c0014t0005g0152 a0008c0014t0005g0264 a0008c0014t0005g0287 a0008c0033t0005g0266 a0008c0033t0005g0336 a0025c0067t0001g0281	7	390	0.0180	c.116 others(4): Show c.1160C>G	p.Pro others(6): Show p.Pro387Arg	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	12/12	1284/1615	1160/1302	387/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44862493	G G	C C	missense_variant missense_variant	MODERATE	HG01099.hp2 HG01099.hp2	a0025 a0025	a0025c0067 a0025c0067	a0025c0067t0001 a0025c0067t0001	a0025c0067t0001g0281 a0025c0067t0001g0281	1	390	0.0026	c.120 others(4): Show c.1200G>C	p.Arg others(6): Show p.Arg400Ser	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	12/12	1324/1615	1200/1302	400/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44862522	G G	A A	missense_variant missense_variant	MODERATE	NA18522.hp1 NA18522.hp1	a0018 a0018	a0018c0073 a0018c0073	a0018c0073t0001 a0018c0073t0001	a0018c0073t0001g0104 a0018c0073t0001g0104	1	390	0.0026	c.122 others(4): Show c.1229G>A	p.Arg others(6): Show p.Arg410Gln	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	12/12	1353/1615	1229/1302	410/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44862546	A A	C C	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01106.hp2	a0027 a0027	a0027c0065 a0027c0065	a0027c0065t0004 a0027c0065t0004	a0027c0065t0004g0030 a0027c0065t0004g0030	1	390	0.0026	c.125 others(4): Show c.1253A>C	p.Lys others(6): Show p.Lys418Thr	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	12/12	1377/1615	1253/1302	418/433	chr22	TogoVar
ARHGAP9_chr12_57467269_57484866	57472561	G G	C C	missense_variant missense_variant	MODERATE	HG02074.hp2 HG02074.hp2	a0016 a0016	a0016c0020 a0016c0020	a0016c0020t0001 a0016c0020t0001	a0016c0020t0001g0051 a0016c0020t0001g0051	1	406	0.0025	c.215 others(4): Show c.2152C>G	p.Leu others(6): Show p.Leu718Val	ARHGAP9	ENSG00000123329.20	transcript	ENST00000393791.8	protein_coding	18/18	2307/2599	2152/2196	718/731	chr12	TogoVar
ARHGAP9_chr12_57467269_57484866	57474054	G G	A A	missense_variant missense_variant	MODERATE	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0001 a0015c0018t0001	a0015c0018t0001g0055 a0015c0018t0001g0055	1	406	0.0025	c.190 others(4): Show c.1906C>T	p.Arg others(6): Show p.Arg636Cys	ARHGAP9	ENSG00000123329.20	transcript	ENST00000393791.8	protein_coding	16/18	2061/2599	1906/2196	636/731	chr12	TogoVar
ARHGAP9_chr12_57467269_57484866	57475863	G G	T T	missense_variant missense_variant	MODERATE	NA19084.hp2 NA19084.hp2	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0001 a0010c0024t0001	a0010c0024t0001g0093 a0010c0024t0001g0093	1	406	0.0025	c.128 others(4): Show c.1281C>A	p.His others(6): Show p.His427Gln	ARHGAP9	ENSG00000123329.20	transcript	ENST00000393791.8	protein_coding	10/18	1436/2599	1281/2196	427/731	chr12	TogoVar
ARHGAP9_chr12_57467269_57484866	57476372	A A	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(151): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG03017.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0005 others(5): Show a0002 a0004 a0005 a0009 a0011 a0013 a0015 a0017	a0002c0002 a0002c0012 a0002c0013 others(7): Show a0002c0002 a0002c0012 a0002c0013 a0004c0007 a0005c0010 a0009c0023 a0011c0014 a0013c0016 a0015c0018 a0017c0022	a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 others(9): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0012t0001 a0002c0013t0001 a0004c0007t0001 a0005c0010t0001 a0009c0023t0001 a0011c0014t0001 a0013c0016t0001 a0015c0018t0001 a0017c0022t0001	a0002c0002t0001g0001 a0002c0002t0001g0020 a0002c0002t0001g0021 others(23): Show a0002c0002t0001g0001 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0030 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0074 a0002c0002t0001g0090 a0002c0002t0003g0040 a0002c0002t0005g0054 a0002c0012t0001g0027 a0002c0013t0001g0033 a0004c0007t0001g0003 a0005c0010t0001g0014 a0009c0023t0001g0095 a0011c0014t0001g0045 a0013c0016t0001g0048 a0015c0018t0001g0055 a0017c0022t0001g0064	154	406	0.3793	c.110 others(4): Show c.1108T>G	p.Ser others(6): Show p.Ser370Ala	ARHGAP9	ENSG00000123329.20	transcript	ENST00000393791.8	protein_coding	8/18	1263/2599	1108/2196	370/731	chr12	TogoVar
ARHGAP9_chr12_57467269_57484866	57476605	C C	G G	missense_variant missense_variant	MODERATE	HG03098.hp2 HG03098.hp2	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0001 a0014c0017t0001	a0014c0017t0001g0067 a0014c0017t0001g0067	1	406	0.0025	c.101 others(4): Show c.1010G>C	p.Gly others(6): Show p.Gly337Ala	ARHGAP9	ENSG00000123329.20	transcript	ENST00000393791.8	protein_coding	7/18	1165/2599	1010/2196	337/731	chr12	TogoVar
ARHGAP9_chr12_57467269_57484866	57476880	G G	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 NA18941.hp2 NA18964.hp1 others(9): Show HG00609.hp1 NA18941.hp2 NA18964.hp1 NA18975.hp1 NA18977.hp2 NA18991.hp2 NA19002.hp1 NA19003.hp2 NA19009.hp1 NA19057.hp1 NA19063.hp2 NA19084.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0003 a0004c0007t0001g0003	12	406	0.0296	c.954 others(3): Show c.954C>A	p.Asp others(6): Show p.Asp318Glu	ARHGAP9	ENSG00000123329.20	transcript	ENST00000393791.8	protein_coding	6/18	1109/2599	954/2196	318/731	chr12	TogoVar
ARHGAP9_chr12_57467269_57484866	57476957	G G	T T	missense_variant missense_variant	MODERATE	HG02040.hp2 HG02074.hp1 HG02132.hp1 others(2): Show HG02040.hp2 HG02074.hp1 HG02132.hp1 HG02155.hp1 NA18998.hp2	a0006 a0013 a0006 a0013	a0006c0011 a0013c0016 a0006c0011 a0013c0016	a0006c0011t0001 a0013c0016t0001 a0006c0011t0001 a0013c0016t0001	a0006c0011t0001g0016 a0013c0016t0001g0048 a0006c0011t0001g0016 a0013c0016t0001g0048	5	406	0.0123	c.877 others(3): Show c.877C>A	p.Leu others(6): Show p.Leu293Ile	ARHGAP9	ENSG00000123329.20	transcript	ENST00000393791.8	protein_coding	6/18	1032/2599	877/2196	293/731	chr12	TogoVar
ARHGAP9_chr12_57467269_57484866	57477605	G G	A A	missense_variant missense_variant	MODERATE	HG01074.hp2 HG01074.hp2	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0001 a0017c0022t0001	a0017c0022t0001g0064 a0017c0022t0001g0064	1	406	0.0025	c.610 others(3): Show c.610C>T	p.Pro others(6): Show p.Pro204Ser	ARHGAP9	ENSG00000123329.20	transcript	ENST00000393791.8	protein_coding	4/18	765/2599	610/2196	204/731	chr12	TogoVar
ARHGAP9_chr12_57467269_57484866	57477619	C C	T T	missense_variant missense_variant	MODERATE	NA19011.hp1 NA19011.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0047 a0012c0015t0001g0047	1	406	0.0025	c.596 others(3): Show c.596G>A	p.Arg others(6): Show p.Arg199His	ARHGAP9	ENSG00000123329.20	transcript	ENST00000393791.8	protein_coding	4/18	751/2599	596/2196	199/731	chr12	TogoVar
ARHGAP9_chr12_57467269_57484866	57478664	C C	T T	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0045 a0011c0014t0001g0045	1	406	0.0025	c.410 others(3): Show c.410G>A	p.Arg others(6): Show p.Arg137His	ARHGAP9	ENSG00000123329.20	transcript	ENST00000393791.8	protein_coding	3/18	565/2599	410/2196	137/731	chr12	TogoVar
ARHGAP9_chr12_57467269_57484866	57478665	G G	A A	missense_variant missense_variant	MODERATE	NA18946.hp1 NA18990.hp1 NA19077.hp1 others(2): Show NA18946.hp1 NA18990.hp1 NA19077.hp1 NA19085.hp2 NA19090.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0014 a0005c0010t0001g0014	5	406	0.0123	c.409 others(3): Show c.409C>T	p.Arg others(6): Show p.Arg137Cys	ARHGAP9	ENSG00000123329.20	transcript	ENST00000393791.8	protein_coding	3/18	564/2599	409/2196	137/731	chr12	TogoVar
ARHGAP9_chr12_57467269_57484866	57479259	T T	C C	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00438.hp1 HG00597.hp1 others(16): Show HG00280.hp1 HG00438.hp1 HG00597.hp1 HG00733.hp1 HG00735.hp1 HG01192.hp1 HG01943.hp2 HG03710.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18961.hp1 NA19007.hp1 NA19012.hp2 NA19070.hp2 NA19084.hp2 NA19091.hp1 NA20805.hp1 NA20805.hp2	a0003 a0009 a0010 a0003 a0009 a0010	a0003c0003 a0009c0023 a0010c0024 a0003c0003 a0009c0023 a0010c0024	a0003c0003t0001 a0009c0023t0001 a0010c0024t0001 a0003c0003t0001 a0009c0023t0001 a0010c0024t0001	a0003c0003t0001g0004 a0003c0003t0001g0037 a0003c0003t0001g0091 others(4): Show a0003c0003t0001g0004 a0003c0003t0001g0037 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0094 a0009c0023t0001g0095 a0010c0024t0001g0093	19	406	0.0468	c.148 others(3): Show c.148A>G	p.Arg others(5): Show p.Arg50Gly	ARHGAP9	ENSG00000123329.20	transcript	ENST00000393791.8	protein_coding	2/18	303/2599	148/2196	50/731	chr12	TogoVar
ARHGAP9_chr12_57467269_57484866	57479340	G G	A A	missense_variant missense_variant	MODERATE	NA20905.hp1 NA20905.hp1	a0018 a0018	a0018c0025 a0018c0025	a0018c0025t0001 a0018c0025t0001	a0018c0025t0001g0096 a0018c0025t0001g0096	1	406	0.0025	c.67C others(2): Show c.67C>T	p.Arg others(5): Show p.Arg23Trp	ARHGAP9	ENSG00000123329.20	transcript	ENST00000393791.8	protein_coding	2/18	222/2599	67/2196	23/731	chr12	TogoVar
ARHGAP9_chr12_57467269_57484866	57479352	G G	C C	missense_variant missense_variant	MODERATE	HG02965.hp2 HG02965.hp2	a0008 a0008	a0008c0026 a0008c0026	a0008c0026t0001 a0008c0026t0001	a0008c0026t0001g0097 a0008c0026t0001g0097	1	406	0.0025	c.55C others(2): Show c.55C>G	p.Arg others(5): Show p.Arg19Gly	ARHGAP9	ENSG00000123329.20	transcript	ENST00000393791.8	protein_coding	2/18	210/2599	55/2196	19/731	chr12	TogoVar
ARHGDIA_chr17_81862721_81876337	81869788	A A	T T	missense_variant missense_variant	MODERATE	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	384	0.0026	c.143 others(3): Show c.143T>A	p.Leu others(5): Show p.Leu48Gln	ARHGDIA	ENSG00000141522.12	transcript	ENST00000269321.12	protein_coding	2/6	210/1837	143/615	48/204	chr17	TogoVar
ARHGDIB_chr12_14937031_14966601	14942682	C C	T T	missense_variant missense_variant	MODERATE	NA18993.hp1 NA18993.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0155 a0003c0004t0001g0155	1	464	0.0022	c.446 others(3): Show c.446G>A	p.Arg others(6): Show p.Arg149Gln	ARHGDIB	ENSG00000111348.9	transcript	ENST00000228945.9	protein_coding	6/6	523/1174	446/606	149/201	chr12	TogoVar
ARHGDIB_chr12_14937031_14966601	14949865	C C	G G	missense_variant missense_variant	MODERATE	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0091 a0002c0003t0001g0091	1	464	0.0022	c.202 others(3): Show c.202G>C	p.Val others(5): Show p.Val68Leu	ARHGDIB	ENSG00000111348.9	transcript	ENST00000228945.9	protein_coding	3/6	279/1174	202/606	68/201	chr12	TogoVar
ARHGDIG_chr16_275591_288010	280745	G G	A A	missense_variant missense_variant	MODERATE	NA19007.hp1 NA19007.hp1	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0002 a0007c0004t0002	a0007c0004t0002g0002 a0007c0004t0002g0002	1	442	0.0023	c.65G others(2): Show c.65G>A	p.Cys others(5): Show p.Cys22Tyr	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding	1/6	155/964	65/678	22/225	chr16	TogoVar
ARHGDIG_chr16_275591_288010	281769	G G	A A	missense_variant missense_variant	MODERATE	HG00558.hp1 HG00558.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0004 a0006c0005t0004	a0006c0005t0004g0006 a0006c0005t0004g0006	1	442	0.0023	c.97G others(2): Show c.97G>A	p.Gly others(5): Show p.Gly33Arg	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding	2/6	187/964	97/678	33/225	chr16	TogoVar
ARHGDIG_chr16_275591_288010	281851	G G	A A	missense_variant missense_variant	MODERATE	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0002 a0002c0006t0001g0002	1	442	0.0023	c.179 others(3): Show c.179G>A	p.Arg others(5): Show p.Arg60Gln	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding	2/6	269/964	179/678	60/225	chr16	TogoVar
ARHGDIG_chr16_275591_288010	282028	C C	T T	missense_variant missense_variant	MODERATE	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0003 a0003c0009t0002g0003	1	442	0.0023	c.257 others(3): Show c.257C>T	p.Pro others(5): Show p.Pro86Leu	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding	3/6	347/964	257/678	86/225	chr16	TogoVar
ARHGDIG_chr16_275591_288010	282719	C C	T T	missense_variant missense_variant	MODERATE	NA18999.hp2 NA18999.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0002 a0005c0008t0002g0002	1	442	0.0023	c.583 others(3): Show c.583C>T	p.Pro others(6): Show p.Pro195Ser	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding	6/6	673/964	583/678	195/225	chr16	TogoVar
ARHGDIG_chr16_275591_288010	282764	C C	T T	missense_variant missense_variant	MODERATE	NA18990.hp1 NA18990.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0036 a0004c0007t0002g0036	1	442	0.0023	c.628 others(3): Show c.628C>T	p.His others(6): Show p.His210Tyr	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding	6/6	718/964	628/678	210/225	chr16	TogoVar
ARHGEF10L_chr1_17534698_17702869	17587562	G G	A A	missense_variant missense_variant	MODERATE	HG01123.hp1 HG01169.hp2 HG01192.hp1 others(4): Show HG01123.hp1 HG01169.hp2 HG01192.hp1 HG01433.hp2 HG02622.hp1 HG02976.hp2 HG04115.hp2	a0005 a0006 a0005 a0006	a0005c0015 a0005c0023 a0005c0024 others(1): Show a0005c0015 a0005c0023 a0005c0024 a0006c0009	a0005c0015t0002 a0005c0023t0002 a0005c0024t0002 others(2): Show a0005c0015t0002 a0005c0023t0002 a0005c0024t0002 a0006c0009t0001 a0006c0009t0003	a0005c0015t0002g0067 a0005c0015t0002g0068 a0005c0023t0002g0100 others(4): Show a0005c0015t0002g0067 a0005c0015t0002g0068 a0005c0023t0002g0100 a0005c0024t0002g0059 a0006c0009t0001g0107 a0006c0009t0001g0166 a0006c0009t0003g0007	7	168	0.0417	c.140 others(3): Show c.140G>A	p.Ser others(5): Show p.Ser47Asn	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	3/29	436/4625	140/3840	47/1279	chr1	TogoVar
ARHGEF10L_chr1_17534698_17702869	17587608	C C	A A	missense_variant missense_variant	MODERATE	HG01106.hp1 HG01106.hp1	a0022 a0022	a0022c0025 a0022c0025	a0022c0025t0002 a0022c0025t0002	a0022c0025t0002g0049 a0022c0025t0002g0049	1	168	0.0060	c.186 others(3): Show c.186C>A	p.Asp others(5): Show p.Asp62Glu	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	3/29	482/4625	186/3840	62/1279	chr1	TogoVar
ARHGEF10L_chr1_17534698_17702869	17587627	G G	A A	missense_variant missense_variant	MODERATE	HG00642.hp2 HG01074.hp1 HG02451.hp1 others(10): Show HG00642.hp2 HG01074.hp1 HG02451.hp1 HG02602.hp2 HG02683.hp2 HG03017.hp1 HG03688.hp2 NA18951.hp2 NA18954.hp1 NA18966.hp2 NA19074.hp1 NA19074.hp2 NA20300.hp2	a0003 a0008 a0020 others(1): Show a0003 a0008 a0020 a0021	a0003c0002 a0008c0016 a0008c0027 others(2): Show a0003c0002 a0008c0016 a0008c0027 a0020c0026 a0021c0028	a0003c0002t0001 a0008c0016t0002 a0008c0027t0002 others(2): Show a0003c0002t0001 a0008c0016t0002 a0008c0027t0002 a0020c0026t0001 a0021c0028t0003	a0003c0002t0001g0038 a0003c0002t0001g0056 a0003c0002t0001g0069 others(10): Show a0003c0002t0001g0038 a0003c0002t0001g0056 a0003c0002t0001g0069 a0003c0002t0001g0073 a0003c0002t0001g0074 a0003c0002t0001g0081 a0003c0002t0001g0105 a0003c0002t0001g0144 a0008c0016t0002g0082 a0008c0016t0002g0132 a0008c0027t0002g0029 a0020c0026t0001g0026 a0021c0028t0003g0044	13	168	0.0774	c.205 others(3): Show c.205G>A	p.Asp others(5): Show p.Asp69Asn	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	3/29	501/4625	205/3840	69/1279	chr1	TogoVar
ARHGEF10L_chr1_17534698_17702869	17602164	G G	A A	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02922.hp1 HG03098.hp2 others(4): Show HG02109.hp1 HG02922.hp1 HG03098.hp2 HG03130.hp1 HG03579.hp2 HG06807.hp1 NA19043.hp1	a0004 a0019 a0004 a0019	a0004c0005 a0019c0029 a0004c0005 a0019c0029	a0004c0005t0002 a0019c0029t0001 a0004c0005t0002 a0019c0029t0001	a0004c0005t0002g0006 a0004c0005t0002g0060 a0004c0005t0002g0108 others(4): Show a0004c0005t0002g0006 a0004c0005t0002g0060 a0004c0005t0002g0108 a0004c0005t0002g0112 a0004c0005t0002g0116 a0004c0005t0002g0157 a0019c0029t0001g0121	7	168	0.0417	c.295 others(3): Show c.295G>A	p.Ala others(5): Show p.Ala99Thr	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	5/29	591/4625	295/3840	99/1279	chr1	TogoVar
ARHGEF10L_chr1_17534698_17702869	17602183	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 NA21309.hp2 HG01884.hp1 NA21309.hp2	a0009 a0010 a0009 a0010	a0009c0030 a0010c0031 a0009c0030 a0010c0031	a0009c0030t0002 a0010c0031t0006 a0009c0030t0002 a0010c0031t0006	a0009c0030t0002g0109 a0010c0031t0006g0165 a0009c0030t0002g0109 a0010c0031t0006g0165	2	168	0.0119	c.314 others(3): Show c.314G>A	p.Arg others(6): Show p.Arg105Gln	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	5/29	610/4625	314/3840	105/1279	chr1	TogoVar
ARHGEF10L_chr1_17534698_17702869	17603583	A A	G G	missense_variant missense_variant	MODERATE	NA18982.hp1 NA18982.hp1	a0018 a0018	a0018c0049 a0018c0049	a0018c0049t0004 a0018c0049t0004	a0018c0049t0004g0075 a0018c0049t0004g0075	1	168	0.0060	c.425 others(3): Show c.425A>G	p.His others(6): Show p.His142Arg	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	6/29	721/4625	425/3840	142/1279	chr1	TogoVar
ARHGEF10L_chr1_17534698_17702869	17607859	C C	T T	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0017 a0017	a0017c0047 a0017c0047	a0017c0047t0002 a0017c0047t0002	a0017c0047t0002g0147 a0017c0047t0002g0147	1	168	0.0060	c.491 others(3): Show c.491C>T	p.Ala others(6): Show p.Ala164Val	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	7/29	787/4625	491/3840	164/1279	chr1	TogoVar
ARHGEF10L_chr1_17534698_17702869	17607936	G G	A A	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02572.hp2	a0016 a0016	a0016c0032 a0016c0032	a0016c0032t0001 a0016c0032t0001	a0016c0032t0001g0086 a0016c0032t0001g0086	1	168	0.0060	c.568 others(3): Show c.568G>A	p.Glu others(6): Show p.Glu190Lys	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	7/29	864/4625	568/3840	190/1279	chr1	TogoVar
ARHGEF10L_chr1_17534698_17702869	17616194	A A	T T	missense_variant missense_variant	MODERATE	NA18951.hp2 NA18951.hp2	a0021 a0021	a0021c0028 a0021c0028	a0021c0028t0003 a0021c0028t0003	a0021c0028t0003g0044 a0021c0028t0003g0044	1	168	0.0060	c.827 others(3): Show c.827A>T	p.Asp others(6): Show p.Asp276Val	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	9/29	1123/4625	827/3840	276/1279	chr1	TogoVar
ARHGEF10L_chr1_17534698_17702869	17623042	C C	T T	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00323.hp2	a0015 a0015	a0015c0046 a0015c0046	a0015c0046t0001 a0015c0046t0001	a0015c0046t0001g0020 a0015c0046t0001g0020	1	168	0.0060	c.106 others(4): Show c.1067C>T	p.Ala others(6): Show p.Ala356Val	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	12/29	1363/4625	1067/3840	356/1279	chr1	TogoVar
ARHGEF10L_chr1_17534698_17702869	17656077	A A	G G	missense_variant missense_variant	MODERATE	HG01261.hp2 HG01261.hp2	a0014 a0014	a0014c0040 a0014c0040	a0014c0040t0001 a0014c0040t0001	a0014c0040t0001g0087 a0014c0040t0001g0087	1	168	0.0060	c.268 others(4): Show c.2680A>G	p.Ile others(6): Show p.Ile894Val	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	24/29	2976/4625	2680/3840	894/1279	chr1	TogoVar
ARHGEF10L_chr1_17534698_17702869	17656079	C C	G G	missense_variant missense_variant	MODERATE	NA18982.hp2 NA18982.hp2	a0013 a0013	a0013c0039 a0013c0039	a0013c0039t0001 a0013c0039t0001	a0013c0039t0001g0039 a0013c0039t0001g0039	1	168	0.0060	c.268 others(4): Show c.2682C>G	p.Ile others(6): Show p.Ile894Met	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	24/29	2978/4625	2682/3840	894/1279	chr1	TogoVar
ARHGEF10L_chr1_17534698_17702869	17696908	C C	T T	missense_variant missense_variant	MODERATE	HG03225.hp2 HG03225.hp2	a0011 a0011	a0011c0037 a0011c0037	a0011c0037t0001 a0011c0037t0001	a0011c0037t0001g0142 a0011c0037t0001g0142	1	168	0.0060	c.336 others(4): Show c.3368C>T	p.Thr others(7): Show p.Thr1123Ile	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	29/29	3664/4625	3368/3840	1123/1279	chr1	TogoVar
ARHGEF10L_chr1_17534698_17702869	17697135	G G	A A	missense_variant missense_variant	MODERATE	NA18966.hp2 NA18966.hp2	a0020 a0020	a0020c0026 a0020c0026	a0020c0026t0001 a0020c0026t0001	a0020c0026t0001g0026 a0020c0026t0001g0026	1	168	0.0060	c.359 others(4): Show c.3595G>A	p.Ala others(7): Show p.Ala1199Thr	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	29/29	3891/4625	3595/3840	1199/1279	chr1	TogoVar
ARHGEF10L_chr1_17534698_17702869	17697195	A A	G G	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00323.hp2 HG00544.hp1 others(119): Show HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp1 NA18951.hp2 NA18954.hp2 NA18962.hp1 NA18966.hp2 NA18982.hp1 NA18982.hp2 NA18995.hp1 NA18995.hp2 NA19010.hp1 NA19043.hp2 NA19074.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(13): Show a0001 a0003 a0006 a0007 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021	a0001c0001 a0001c0006 a0001c0011 others(28): Show a0001c0001 a0001c0006 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0019 a0001c0020 a0001c0033 a0001c0038 a0001c0042 a0001c0043 a0001c0044 a0001c0045 a0001c0048 a0003c0002 a0006c0009 a0007c0010 a0010c0031 a0011c0037 a0012c0035 a0013c0039 a0014c0040 a0015c0046 a0016c0032 a0017c0047 a0018c0049 a0019c0029 a0020c0026 a0021c0028	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(33): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0006t0001 a0001c0006t0003 a0001c0006t0007 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0001c0017t0002 a0001c0019t0001 a0001c0020t0001 a0001c0033t0002 a0001c0038t0003 a0001c0042t0001 a0001c0043t0002 a0001c0044t0004 a0001c0045t0001 a0001c0048t0001 a0003c0002t0001 a0006c0009t0001 a0006c0009t0003 a0007c0010t0001 a0010c0031t0006 a0011c0037t0001 a0012c0035t0001 a0013c0039t0001 a0014c0040t0001 a0015c0046t0001 a0016c0032t0001 a0017c0047t0002 a0018c0049t0004 a0019c0029t0001 a0020c0026t0001 a0021c0028t0003	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(119): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0003g0080 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0114 a0001c0001t0003g0125 a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0003g0143 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0168 a0001c0001t0005g0162 a0001c0006t0001g0001 a0001c0006t0001g0129 a0001c0006t0001g0130 a0001c0006t0001g0156 a0001c0006t0003g0139 a0001c0006t0007g0150 a0001c0011t0001g0004 a0001c0011t0001g0138 a0001c0011t0001g0152 a0001c0012t0001g0064 a0001c0012t0001g0072 a0001c0012t0001g0101 a0001c0013t0001g0008 a0001c0013t0001g0017 a0001c0013t0001g0023 a0001c0014t0001g0093 a0001c0014t0001g0145 a0001c0017t0002g0113 a0001c0017t0002g0148 a0001c0019t0001g0066 a0001c0019t0001g0094 a0001c0020t0001g0016 a0001c0020t0001g0052 a0001c0033t0002g0110 a0001c0038t0003g0123 a0001c0042t0001g0035 a0001c0043t0002g0051 a0001c0044t0004g0161 a0001c0045t0001g0032 a0001c0048t0001g0005 a0003c0002t0001g0038 a0003c0002t0001g0056 a0003c0002t0001g0069 a0003c0002t0001g0073 a0003c0002t0001g0074 a0003c0002t0001g0081 a0003c0002t0001g0105 a0003c0002t0001g0144 a0006c0009t0001g0107 a0006c0009t0001g0166 a0006c0009t0003g0007 a0007c0010t0001g0053 a0007c0010t0001g0065 a0007c0010t0001g0115 a0010c0031t0006g0165 a0011c0037t0001g0142 a0012c0035t0001g0018 a0013c0039t0001g0039 a0014c0040t0001g0087 a0015c0046t0001g0020 a0016c0032t0001g0086 a0017c0047t0002g0147 a0018c0049t0004g0075 a0019c0029t0001g0121 a0020c0026t0001g0026 a0021c0028t0003g0044	122	168	0.7262	c.365 others(4): Show c.3655A>G	p.Ile others(7): Show p.Ile1219Val	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	29/29	3951/4625	3655/3840	1219/1279	chr1	TogoVar
ARHGEF10L_chr1_17534698_17702869	17697204	C C	T T	missense_variant missense_variant	MODERATE	HG03471.hp2 HG03540.hp2 NA19240.hp2 HG03471.hp2 HG03540.hp2 NA19240.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0053 a0007c0010t0001g0065 a0007c0010t0001g0115 a0007c0010t0001g0053 a0007c0010t0001g0065 a0007c0010t0001g0115	3	168	0.0179	c.366 others(4): Show c.3664C>T	p.Arg others(7): Show p.Arg1222Cys	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	29/29	3960/4625	3664/3840	1222/1279	chr1	TogoVar
ARHGEF10L_chr1_17534698_17702869	17697223	G G	A A	missense_variant missense_variant	MODERATE	HG02080.hp1 HG02080.hp1	a0012 a0012	a0012c0035 a0012c0035	a0012c0035t0001 a0012c0035t0001	a0012c0035t0001g0018 a0012c0035t0001g0018	1	168	0.0060	c.368 others(4): Show c.3683G>A	p.Arg others(7): Show p.Arg1228His	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	29/29	3979/4625	3683/3840	1228/1279	chr1	TogoVar
ARHGEF10_chr8_1818926_1963641	1858049	G G	C C	missense_variant missense_variant	MODERATE	NA19091.hp1 NA19091.hp1	a0025 a0025	a0025c0055 a0025c0055	a0025c0055t0045 a0025c0055t0045	a0025c0055t0045g0108 a0025c0055t0045g0108	1	363	0.0028	c.127 others(3): Show c.127G>C	p.Asp others(5): Show p.Asp43His	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	3/29	362/5648	127/4035	43/1344	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1860136	G G	A A	missense_variant missense_variant	MODERATE	HG03669.hp2 HG03704.hp1 HG03669.hp2 HG03704.hp1	a0013 a0013	a0013c0056 a0013c0057 a0013c0056 a0013c0057	a0013c0056t0002 a0013c0057t0001 a0013c0056t0002 a0013c0057t0001	a0013c0056t0002g0246 a0013c0057t0001g0283 a0013c0056t0002g0246 a0013c0057t0001g0283	2	363	0.0055	c.433 others(3): Show c.433G>A	p.Ala others(6): Show p.Ala145Thr	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	4/29	668/5648	433/4035	145/1344	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1876715	G G	A A	missense_variant missense_variant	MODERATE	HG00597.hp2 NA18948.hp1 NA19084.hp1 others(1): Show HG00597.hp2 NA18948.hp1 NA19084.hp1 NA19085.hp1	a0007 a0007	a0007c0053 a0007c0147 a0007c0148 a0007c0053 a0007c0147 a0007c0148	a0007c0053t0001 a0007c0147t0002 a0007c0148t0002 a0007c0053t0001 a0007c0147t0002 a0007c0148t0002	a0007c0053t0001g0010 a0007c0053t0001g0016 a0007c0147t0002g0004 others(1): Show a0007c0053t0001g0010 a0007c0053t0001g0016 a0007c0147t0002g0004 a0007c0148t0002g0003	4	363	0.0110	c.824 others(3): Show c.824G>A	p.Arg others(6): Show p.Arg275His	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	8/29	1059/5648	824/4035	275/1344	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1876734	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02132.hp1 HG02132.hp1	a0014 a0014	a0014c0107 a0014c0107	a0014c0107t0004 a0014c0107t0004	a0014c0107t0004g0135 a0014c0107t0004g0135	1	363	0.0028	c.843 others(3): Show c.843A>C	p.Gln others(6): Show p.Gln281His	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	8/29	1078/5648	843/4035	281/1344	chr8	TogoVar

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