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
ARHGEF4_chr2_130831914_131052253	130914572	C C	T T	missense_variant missense_variant	MODERATE	HG00642.hp2 HG00735.hp2 HG01081.hp1 others(3): Show HG00642.hp2 HG00735.hp2 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG03017.hp1	a0008 a0025 a0008 a0025	a0008c0012 a0008c0053 a0025c0024 a0008c0012 a0008c0053 a0025c0024	a0008c0012t0001 a0008c0053t0001 a0025c0024t0001 a0008c0012t0001 a0008c0053t0001 a0025c0024t0001	a0008c0012t0001g0026 a0008c0012t0001g0027 a0008c0012t0001g0045 others(3): Show a0008c0012t0001g0026 a0008c0012t0001g0027 a0008c0012t0001g0045 a0008c0012t0001g0082 a0008c0053t0001g0055 a0025c0024t0001g0029	6	144	0.0417	c.626 others(3): Show c.626C>T	p.Ser others(6): Show p.Ser209Phe	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/14	666/6735	626/5631	209/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130914698	T T	C C	missense_variant missense_variant	MODERATE	HG00621.hp1 HG00621.hp2 HG00642.hp1 others(140): Show HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(21): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025	a0001c0001 a0001c0002 a0001c0007 others(50): Show a0001c0001 a0001c0002 a0001c0007 a0001c0014 a0001c0015 a0001c0018 a0001c0025 a0001c0026 a0001c0027 a0001c0034 a0001c0039 a0001c0044 a0001c0045 a0002c0010 a0002c0011 a0002c0028 a0002c0040 a0002c0041 a0002c0042 a0002c0048 a0003c0003 a0003c0030 a0003c0031 a0004c0004 a0004c0020 a0005c0006 a0005c0008 a0006c0005 a0006c0050 a0007c0013 a0007c0017 a0007c0032 a0008c0012 a0008c0053 a0009c0021 a0009c0046 a0009c0047 a0010c0009 a0011c0022 a0011c0049 a0012c0019 a0013c0016 a0014c0023 a0015c0054 a0017c0051 a0018c0043 a0019c0036 a0020c0038 a0021c0037 a0022c0035 a0023c0029 a0024c0033 a0025c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(64): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0007t0004 a0001c0014t0001 a0001c0014t0002 a0001c0015t0001 a0001c0018t0002 a0001c0018t0005 a0001c0025t0005 a0001c0026t0001 a0001c0027t0001 a0001c0034t0001 a0001c0039t0001 a0001c0044t0001 a0001c0045t0001 a0002c0010t0001 a0002c0011t0001 a0002c0011t0005 a0002c0028t0001 a0002c0040t0001 a0002c0041t0001 a0002c0042t0001 a0002c0048t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0030t0004 a0003c0031t0006 a0004c0004t0001 a0004c0004t0007 a0004c0020t0001 a0005c0006t0001 a0005c0006t0002 a0005c0006t0003 a0005c0008t0001 a0006c0005t0001 a0006c0005t0003 a0006c0005t0005 a0006c0050t0001 a0007c0013t0001 a0007c0013t0002 a0007c0013t0003 a0007c0017t0001 a0007c0032t0001 a0008c0012t0001 a0008c0053t0001 a0009c0021t0001 a0009c0046t0009 a0009c0047t0001 a0010c0009t0001 a0011c0022t0001 a0011c0049t0001 a0012c0019t0001 a0013c0016t0003 a0014c0023t0001 a0015c0054t0001 a0017c0051t0006 a0018c0043t0001 a0019c0036t0001 a0020c0038t0001 a0021c0037t0001 a0022c0035t0001 a0023c0029t0001 a0024c0033t0001 a0025c0024t0001	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 others(140): Show a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0002g0058 a0001c0001t0008g0048 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0031 a0001c0002t0001g0034 a0001c0002t0001g0038 a0001c0002t0001g0041 a0001c0002t0001g0074 a0001c0002t0001g0083 a0001c0002t0001g0113 a0001c0007t0004g0089 a0001c0007t0004g0090 a0001c0007t0004g0091 a0001c0007t0004g0092 a0001c0007t0004g0093 a0001c0014t0001g0036 a0001c0014t0001g0120 a0001c0014t0002g0075 a0001c0015t0001g0078 a0001c0015t0001g0079 a0001c0018t0002g0105 a0001c0018t0005g0106 a0001c0025t0005g0067 a0001c0026t0001g0080 a0001c0027t0001g0107 a0001c0034t0001g0111 a0001c0039t0001g0039 a0001c0044t0001g0011 a0001c0045t0001g0085 a0002c0010t0001g0003 a0002c0010t0001g0047 a0002c0010t0001g0051 a0002c0010t0001g0136 a0002c0011t0001g0132 a0002c0011t0001g0133 a0002c0011t0001g0134 a0002c0011t0005g0054 a0002c0028t0001g0073 a0002c0040t0001g0044 a0002c0041t0001g0053 a0002c0042t0001g0064 a0002c0048t0001g0070 a0003c0003t0001g0030 a0003c0003t0001g0062 a0003c0003t0001g0071 a0003c0003t0001g0081 a0003c0003t0002g0116 a0003c0003t0002g0117 a0003c0003t0002g0118 a0003c0003t0003g0112 a0003c0030t0004g0022 a0003c0031t0006g0037 a0004c0004t0001g0005 a0004c0004t0001g0008 a0004c0004t0001g0018 a0004c0004t0001g0125 a0004c0004t0001g0128 a0004c0004t0001g0144 a0004c0004t0007g0006 a0004c0020t0001g0016 a0004c0020t0001g0028 a0005c0006t0001g0052 a0005c0006t0001g0100 a0005c0006t0001g0102 a0005c0006t0002g0099 a0005c0006t0003g0103 a0005c0008t0001g0007 a0005c0008t0001g0097 a0005c0008t0001g0098 a0005c0008t0001g0101 a0006c0005t0001g0072 a0006c0005t0001g0094 a0006c0005t0001g0104 a0006c0005t0001g0143 a0006c0005t0003g0140 a0006c0005t0005g0119 a0006c0050t0001g0142 a0007c0013t0001g0059 a0007c0013t0002g0095 a0007c0013t0003g0060 a0007c0017t0001g0108 a0007c0017t0001g0109 a0007c0032t0001g0004 a0008c0012t0001g0026 a0008c0012t0001g0027 a0008c0012t0001g0045 a0008c0012t0001g0082 a0008c0053t0001g0055 a0009c0021t0001g0130 a0009c0021t0001g0139 a0009c0046t0009g0076 a0009c0047t0001g0110 a0010c0009t0001g0065 a0010c0009t0001g0066 a0010c0009t0001g0068 a0010c0009t0001g0138 a0011c0022t0001g0084 a0011c0022t0001g0096 a0011c0049t0001g0056 a0012c0019t0001g0127 a0012c0019t0001g0129 a0013c0016t0003g0001 a0013c0016t0003g0002 a0014c0023t0001g0057 a0015c0054t0001g0061 a0017c0051t0006g0069 a0018c0043t0001g0131 a0019c0036t0001g0049 a0020c0038t0001g0032 a0021c0037t0001g0050 a0022c0035t0001g0121 a0023c0029t0001g0141 a0024c0033t0001g0021 a0025c0024t0001g0029	143	144	0.9931	c.752 others(3): Show c.752T>C	p.Leu others(6): Show p.Leu251Pro	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/14	792/6735	752/5631	251/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130914757	A A	G G	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0017 a0017	a0017c0051 a0017c0051	a0017c0051t0006 a0017c0051t0006	a0017c0051t0006g0069 a0017c0051t0006g0069	1	144	0.0069	c.811 others(3): Show c.811A>G	p.Lys others(6): Show p.Lys271Glu	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/14	851/6735	811/5631	271/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130915676	A A	T T	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02965.hp1 NA19043.hp1 HG02258.hp2 HG02965.hp1 NA19043.hp1	a0011 a0011	a0011c0022 a0011c0049 a0011c0022 a0011c0049	a0011c0022t0001 a0011c0049t0001 a0011c0022t0001 a0011c0049t0001	a0011c0022t0001g0084 a0011c0022t0001g0096 a0011c0049t0001g0056 a0011c0022t0001g0084 a0011c0022t0001g0096 a0011c0049t0001g0056	3	144	0.0208	c.173 others(4): Show c.1730A>T	p.Asn others(6): Show p.Asn577Ile	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/14	1770/6735	1730/5631	577/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130915923	T T	G G	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01175.hp2 HG02055.hp1 others(18): Show HG01109.hp2 HG01175.hp2 HG02055.hp1 HG02055.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03516.hp1 HG03942.hp1 NA19240.hp1	a0003 a0007 a0013 others(3): Show a0003 a0007 a0013 a0017 a0023 a0024	a0003c0003 a0003c0030 a0003c0031 others(7): Show a0003c0003 a0003c0030 a0003c0031 a0007c0013 a0007c0017 a0007c0032 a0013c0016 a0017c0051 a0023c0029 a0024c0033	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(11): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0030t0004 a0003c0031t0006 a0007c0013t0001 a0007c0013t0002 a0007c0013t0003 a0007c0017t0001 a0007c0032t0001 a0013c0016t0003 a0017c0051t0006 a0023c0029t0001 a0024c0033t0001	a0003c0003t0001g0030 a0003c0003t0001g0062 a0003c0003t0001g0071 others(18): Show a0003c0003t0001g0030 a0003c0003t0001g0062 a0003c0003t0001g0071 a0003c0003t0001g0081 a0003c0003t0002g0116 a0003c0003t0002g0117 a0003c0003t0002g0118 a0003c0003t0003g0112 a0003c0030t0004g0022 a0003c0031t0006g0037 a0007c0013t0001g0059 a0007c0013t0002g0095 a0007c0013t0003g0060 a0007c0017t0001g0108 a0007c0017t0001g0109 a0007c0032t0001g0004 a0013c0016t0003g0001 a0013c0016t0003g0002 a0017c0051t0006g0069 a0023c0029t0001g0141 a0024c0033t0001g0021	21	144	0.1458	c.197 others(4): Show c.1977T>G	p.Phe others(6): Show p.Phe659Leu	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/14	2017/6735	1977/5631	659/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130915955	C C	G G	missense_variant missense_variant	MODERATE	HG00621.hp1 HG01884.hp2 HG02630.hp2 others(11): Show HG00621.hp1 HG01884.hp2 HG02630.hp2 HG02698.hp1 HG02896.hp2 HG03041.hp2 HG03453.hp1 HG03471.hp2 HG03654.hp2 NA18970.hp1 NA18999.hp1 NA19030.hp1 NA19043.hp2 NA20129.hp2	a0002 a0018 a0002 a0018	a0002c0010 a0002c0011 a0002c0028 others(5): Show a0002c0010 a0002c0011 a0002c0028 a0002c0040 a0002c0041 a0002c0042 a0002c0048 a0018c0043	a0002c0010t0001 a0002c0011t0001 a0002c0011t0005 others(6): Show a0002c0010t0001 a0002c0011t0001 a0002c0011t0005 a0002c0028t0001 a0002c0040t0001 a0002c0041t0001 a0002c0042t0001 a0002c0048t0001 a0018c0043t0001	a0002c0010t0001g0003 a0002c0010t0001g0047 a0002c0010t0001g0051 others(11): Show a0002c0010t0001g0003 a0002c0010t0001g0047 a0002c0010t0001g0051 a0002c0010t0001g0136 a0002c0011t0001g0132 a0002c0011t0001g0133 a0002c0011t0001g0134 a0002c0011t0005g0054 a0002c0028t0001g0073 a0002c0040t0001g0044 a0002c0041t0001g0053 a0002c0042t0001g0064 a0002c0048t0001g0070 a0018c0043t0001g0131	14	144	0.0972	c.200 others(4): Show c.2009C>G	p.Thr others(6): Show p.Thr670Ser	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/14	2049/6735	2009/5631	670/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130916129	G G	A A	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02280.hp2 HG02723.hp1 others(15): Show HG02258.hp2 HG02280.hp2 HG02723.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18948.hp2 NA18970.hp2 NA18971.hp2 NA18990.hp1 NA19043.hp1 NA20129.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0004 a0009 a0011 others(1): Show a0004 a0009 a0011 a0012	a0004c0004 a0004c0020 a0009c0021 others(5): Show a0004c0004 a0004c0020 a0009c0021 a0009c0046 a0009c0047 a0011c0022 a0011c0049 a0012c0019	a0004c0004t0001 a0004c0004t0007 a0004c0020t0001 others(6): Show a0004c0004t0001 a0004c0004t0007 a0004c0020t0001 a0009c0021t0001 a0009c0046t0009 a0009c0047t0001 a0011c0022t0001 a0011c0049t0001 a0012c0019t0001	a0004c0004t0001g0005 a0004c0004t0001g0008 a0004c0004t0001g0018 others(15): Show a0004c0004t0001g0005 a0004c0004t0001g0008 a0004c0004t0001g0018 a0004c0004t0001g0125 a0004c0004t0001g0128 a0004c0004t0001g0144 a0004c0004t0007g0006 a0004c0020t0001g0016 a0004c0020t0001g0028 a0009c0021t0001g0130 a0009c0021t0001g0139 a0009c0046t0009g0076 a0009c0047t0001g0110 a0011c0022t0001g0084 a0011c0022t0001g0096 a0011c0049t0001g0056 a0012c0019t0001g0127 a0012c0019t0001g0129	18	144	0.1250	c.218 others(4): Show c.2183G>A	p.Ser others(6): Show p.Ser728Asn	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/14	2223/6735	2183/5631	728/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130916134	G G	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02486.hp2 HG02818.hp1 others(4): Show HG02257.hp1 HG02486.hp2 HG02818.hp1 HG03041.hp1 HG03225.hp1 NA18906.hp2 NA19240.hp2	a0006 a0006	a0006c0005 a0006c0050 a0006c0005 a0006c0050	a0006c0005t0001 a0006c0005t0003 a0006c0005t0005 others(1): Show a0006c0005t0001 a0006c0005t0003 a0006c0005t0005 a0006c0050t0001	a0006c0005t0001g0072 a0006c0005t0001g0094 a0006c0005t0001g0104 others(4): Show a0006c0005t0001g0072 a0006c0005t0001g0094 a0006c0005t0001g0104 a0006c0005t0001g0143 a0006c0005t0003g0140 a0006c0005t0005g0119 a0006c0050t0001g0142	7	144	0.0486	c.218 others(4): Show c.2188G>C	p.Glu others(6): Show p.Glu730Gln	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/14	2228/6735	2188/5631	730/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130916357	G G	A A	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02572.hp1 HG02559.hp2 HG02572.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0003 a0013c0016t0003	a0013c0016t0003g0001 a0013c0016t0003g0002 a0013c0016t0003g0001 a0013c0016t0003g0002	2	144	0.0139	c.241 others(4): Show c.2411G>A	p.Arg others(6): Show p.Arg804Lys	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/14	2451/6735	2411/5631	804/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130916360	C C	A A	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0017 a0017	a0017c0051 a0017c0051	a0017c0051t0006 a0017c0051t0006	a0017c0051t0006g0069 a0017c0051t0006g0069	1	144	0.0069	c.241 others(4): Show c.2414C>A	p.Pro others(6): Show p.Pro805His	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/14	2454/6735	2414/5631	805/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130917239	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0023 a0023	a0023c0029 a0023c0029	a0023c0029t0001 a0023c0029t0001	a0023c0029t0001g0141 a0023c0029t0001g0141	1	144	0.0069	c.329 others(4): Show c.3293G>A	p.Arg others(7): Show p.Arg1098Lys	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/14	3333/6735	3293/5631	1098/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130917278	G G	C C	missense_variant missense_variant	MODERATE	HG03942.hp2 HG03942.hp2	a0022 a0022	a0022c0035 a0022c0035	a0022c0035t0001 a0022c0035t0001	a0022c0035t0001g0121 a0022c0035t0001g0121	1	144	0.0069	c.333 others(4): Show c.3332G>C	p.Arg others(7): Show p.Arg1111Thr	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/14	3372/6735	3332/5631	1111/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130917297	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp2 HG02055.hp2 HG02280.hp1 others(7): Show HG01109.hp2 HG02055.hp2 HG02280.hp1 HG02615.hp2 HG02622.hp2 HG02818.hp2 HG02886.hp2 HG03195.hp1 HG03195.hp2 HG03516.hp1	a0003 a0003	a0003c0003 a0003c0030 a0003c0031 a0003c0003 a0003c0030 a0003c0031	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(2): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0030t0004 a0003c0031t0006	a0003c0003t0001g0030 a0003c0003t0001g0062 a0003c0003t0001g0071 others(7): Show a0003c0003t0001g0030 a0003c0003t0001g0062 a0003c0003t0001g0071 a0003c0003t0001g0081 a0003c0003t0002g0116 a0003c0003t0002g0117 a0003c0003t0002g0118 a0003c0003t0003g0112 a0003c0030t0004g0022 a0003c0031t0006g0037	10	144	0.0694	c.335 others(4): Show c.3351G>A	p.Met others(7): Show p.Met1117Ile	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/14	3391/6735	3351/5631	1117/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130917452	G G	A A	missense_variant missense_variant	MODERATE	HG01243.hp2 HG02257.hp2 HG02572.hp2 others(6): Show HG01243.hp2 HG02257.hp2 HG02572.hp2 HG02630.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03225.hp2 HG03516.hp2	a0005 a0005	a0005c0006 a0005c0008 a0005c0006 a0005c0008	a0005c0006t0001 a0005c0006t0002 a0005c0006t0003 others(1): Show a0005c0006t0001 a0005c0006t0002 a0005c0006t0003 a0005c0008t0001	a0005c0006t0001g0052 a0005c0006t0001g0100 a0005c0006t0001g0102 others(6): Show a0005c0006t0001g0052 a0005c0006t0001g0100 a0005c0006t0001g0102 a0005c0006t0002g0099 a0005c0006t0003g0103 a0005c0008t0001g0007 a0005c0008t0001g0097 a0005c0008t0001g0098 a0005c0008t0001g0101	9	144	0.0625	c.350 others(4): Show c.3506G>A	p.Arg others(7): Show p.Arg1169His	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/14	3546/6735	3506/5631	1169/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130931054	G G	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0023 a0023	a0023c0029 a0023c0029	a0023c0029t0001 a0023c0029t0001	a0023c0029t0001g0141 a0023c0029t0001g0141	1	144	0.0069	c.365 others(4): Show c.3655G>C	p.Asp others(7): Show p.Asp1219His	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	3/14	3695/6735	3655/5631	1219/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130931210	G G	A A	missense_variant missense_variant	MODERATE	HG02280.hp2 HG04115.hp2 HG04184.hp2 others(8): Show HG02280.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18948.hp2 NA18970.hp2 NA18971.hp2 NA18990.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0004 a0012 a0004 a0012	a0004c0004 a0004c0020 a0012c0019 a0004c0004 a0004c0020 a0012c0019	a0004c0004t0001 a0004c0004t0007 a0004c0020t0001 others(1): Show a0004c0004t0001 a0004c0004t0007 a0004c0020t0001 a0012c0019t0001	a0004c0004t0001g0005 a0004c0004t0001g0008 a0004c0004t0001g0018 others(8): Show a0004c0004t0001g0005 a0004c0004t0001g0008 a0004c0004t0001g0018 a0004c0004t0001g0125 a0004c0004t0001g0128 a0004c0004t0001g0144 a0004c0004t0007g0006 a0004c0020t0001g0016 a0004c0020t0001g0028 a0012c0019t0001g0127 a0012c0019t0001g0129	11	144	0.0764	c.381 others(4): Show c.3811G>A	p.Val others(7): Show p.Val1271Ile	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	3/14	3851/6735	3811/5631	1271/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130946613	G G	C C	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02717.hp1 HG02723.hp2 others(1): Show HG02258.hp1 HG02717.hp1 HG02723.hp2 HG02886.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0065 a0010c0009t0001g0066 a0010c0009t0001g0068 others(1): Show a0010c0009t0001g0065 a0010c0009t0001g0066 a0010c0009t0001g0068 a0010c0009t0001g0138	4	144	0.0278	c.396 others(4): Show c.3963G>C	p.Trp others(7): Show p.Trp1321Cys	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	4/14	4003/6735	3963/5631	1321/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	131040106	A A	G G	missense_variant missense_variant	MODERATE	HG02896.hp2 HG02896.hp2	a0018 a0018	a0018c0043 a0018c0043	a0018c0043t0001 a0018c0043t0001	a0018c0043t0001g0131 a0018c0043t0001g0131	1	144	0.0069	c.439 others(4): Show c.4396A>G	p.Ser others(7): Show p.Ser1466Gly	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	7/14	4436/6735	4396/5631	1466/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	131040301	G G	A A	missense_variant missense_variant	MODERATE	NA18948.hp1 NA18971.hp2 NA18990.hp1 NA18948.hp1 NA18971.hp2 NA18990.hp1	a0012 a0019 a0012 a0019	a0012c0019 a0019c0036 a0012c0019 a0019c0036	a0012c0019t0001 a0019c0036t0001 a0012c0019t0001 a0019c0036t0001	a0012c0019t0001g0127 a0012c0019t0001g0129 a0019c0036t0001g0049 a0012c0019t0001g0127 a0012c0019t0001g0129 a0019c0036t0001g0049	3	144	0.0208	c.452 others(4): Show c.4523G>A	p.Ser others(7): Show p.Ser1508Asn	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	8/14	4563/6735	4523/5631	1508/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	131040316	G G	T T	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03491.hp1	a0020 a0020	a0020c0038 a0020c0038	a0020c0038t0001 a0020c0038t0001	a0020c0038t0001g0032 a0020c0038t0001g0032	1	144	0.0069	c.453 others(4): Show c.4538G>T	p.Arg others(7): Show p.Arg1513Leu	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	8/14	4578/6735	4538/5631	1513/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	131043544	G G	C C	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02055.hp1	a0024 a0024	a0024c0033 a0024c0033	a0024c0033t0001 a0024c0033t0001	a0024c0033t0001g0021 a0024c0033t0001g0021	1	144	0.0069	c.511 others(4): Show c.5118G>C	p.Met others(7): Show p.Met1706Ile	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	11/14	5158/6735	5118/5631	1706/1876	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	131046047	G G	A A	missense_variant missense_variant	MODERATE	NA20905.hp2 NA20905.hp2	a0021 a0021	a0021c0037 a0021c0037	a0021c0037t0001 a0021c0037t0001	a0021c0037t0001g0050 a0021c0037t0001g0050	1	144	0.0069	c.548 others(4): Show c.5489G>A	p.Arg others(7): Show p.Arg1830Gln	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	14/14	5529/6735	5489/5631	1830/1876	chr2	TogoVar
ARHGEF5_chr7_144350402_144385632	144362742	G G	A A	missense_variant missense_variant	MODERATE	HG02135.hp2 HG02647.hp2 HG02135.hp2 HG02647.hp2	a0020 a0020	a0020c0018 a0020c0018	a0020c0018t0001 a0020c0018t0002 a0020c0018t0001 a0020c0018t0002	a0020c0018t0001g0156 a0020c0018t0002g0061 a0020c0018t0001g0156 a0020c0018t0002g0061	2	288	0.0069	c.73G others(2): Show c.73G>A	p.Glu others(5): Show p.Glu25Lys	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	185/5482	73/4794	25/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144362991	C C	T T	missense_variant missense_variant	MODERATE	HG01361.hp2 HG01361.hp2	a0048 a0048	a0048c0069 a0048c0069	a0048c0069t0002 a0048c0069t0002	a0048c0069t0002g0166 a0048c0069t0002g0166	1	288	0.0035	c.322 others(3): Show c.322C>T	p.Pro others(6): Show p.Pro108Ser	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	434/5482	322/4794	108/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144363042	T T	C C	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02970.hp2 HG03486.hp1 others(1): Show HG01884.hp1 HG02970.hp2 HG03486.hp1 NA19240.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0002 a0012c0013t0002	a0012c0013t0002g0122 a0012c0013t0002g0125 a0012c0013t0002g0126 others(1): Show a0012c0013t0002g0122 a0012c0013t0002g0125 a0012c0013t0002g0126 a0012c0013t0002g0127	4	288	0.0139	c.373 others(3): Show c.373T>C	p.Trp others(6): Show p.Trp125Arg	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	485/5482	373/4794	125/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144363102	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00323.hp1 HG00423.hp1 others(113): Show HG00099.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA18982.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19065.hp1 NA19083.hp1 NA19083.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20752.hp1 NA20905.hp1	a0002 a0005 a0006 others(19): Show a0002 a0005 a0006 a0008 a0013 a0015 a0016 a0017 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033	a0002c0001 a0002c0016 a0002c0061 others(25): Show a0002c0001 a0002c0016 a0002c0061 a0002c0063 a0002c0064 a0005c0006 a0006c0005 a0008c0008 a0008c0055 a0013c0017 a0015c0024 a0016c0054 a0016c0065 a0017c0025 a0020c0018 a0021c0053 a0022c0058 a0023c0059 a0024c0057 a0025c0062 a0026c0060 a0027c0056 a0028c0052 a0029c0051 a0030c0050 a0031c0066 a0032c0067 a0033c0068	a0002c0001t0001 a0002c0016t0001 a0002c0061t0001 others(26): Show a0002c0001t0001 a0002c0016t0001 a0002c0061t0001 a0002c0063t0001 a0002c0064t0001 a0005c0006t0001 a0006c0005t0001 a0008c0008t0001 a0008c0055t0001 a0013c0017t0001 a0015c0024t0001 a0016c0054t0001 a0016c0065t0001 a0017c0025t0001 a0020c0018t0001 a0020c0018t0002 a0021c0053t0001 a0022c0058t0001 a0023c0059t0001 a0024c0057t0001 a0025c0062t0001 a0026c0060t0001 a0027c0056t0001 a0028c0052t0001 a0029c0051t0001 a0030c0050t0001 a0031c0066t0001 a0032c0067t0001 a0033c0068t0001	a0002c0001t0001g0001 a0002c0001t0001g0008 a0002c0001t0001g0012 others(89): Show a0002c0001t0001g0001 a0002c0001t0001g0008 a0002c0001t0001g0012 a0002c0001t0001g0024 a0002c0001t0001g0029 a0002c0001t0001g0042 a0002c0001t0001g0045 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0075 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0082 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0090 a0002c0001t0001g0091 a0002c0001t0001g0095 a0002c0001t0001g0100 a0002c0001t0001g0102 a0002c0001t0001g0104 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0110 a0002c0001t0001g0111 a0002c0001t0001g0175 a0002c0001t0001g0186 a0002c0016t0001g0074 a0002c0016t0001g0105 a0002c0016t0001g0176 a0002c0061t0001g0093 a0002c0063t0001g0076 a0002c0064t0001g0071 a0005c0006t0001g0007 a0005c0006t0001g0008 a0005c0006t0001g0027 a0005c0006t0001g0028 a0005c0006t0001g0070 a0005c0006t0001g0081 a0005c0006t0001g0083 a0005c0006t0001g0094 a0005c0006t0001g0096 a0005c0006t0001g0097 a0005c0006t0001g0099 a0005c0006t0001g0101 a0005c0006t0001g0108 a0005c0006t0001g0109 a0006c0005t0001g0001 a0006c0005t0001g0008 a0006c0005t0001g0009 a0006c0005t0001g0013 a0006c0005t0001g0025 a0006c0005t0001g0069 a0006c0005t0001g0084 a0006c0005t0001g0085 a0006c0005t0001g0103 a0006c0005t0001g0115 a0006c0005t0001g0159 a0006c0005t0001g0161 a0008c0008t0001g0026 a0008c0008t0001g0030 a0008c0008t0001g0039 a0008c0008t0001g0116 a0008c0008t0001g0117 a0008c0008t0001g0158 a0008c0008t0001g0160 a0008c0008t0001g0162 a0008c0055t0001g0001 a0013c0017t0001g0112 a0013c0017t0001g0113 a0013c0017t0001g0163 a0015c0024t0001g0089 a0015c0024t0001g0092 a0016c0054t0001g0030 a0016c0065t0001g0157 a0017c0025t0001g0009 a0020c0018t0001g0156 a0020c0018t0002g0061 a0021c0053t0001g0118 a0022c0058t0001g0098 a0023c0059t0001g0080 a0024c0057t0001g0028 a0025c0062t0001g0024 a0026c0060t0001g0177 a0027c0056t0001g0079 a0028c0052t0001g0008 a0029c0051t0001g0185 a0030c0050t0001g0027 a0031c0066t0001g0001 a0032c0067t0001g0178 a0033c0068t0001g0152	116	288	0.4028	c.433 others(3): Show c.433A>G	p.Ser others(6): Show p.Ser145Gly	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	545/5482	433/4794	145/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144363193	A A	G G	missense_variant missense_variant	MODERATE	NA18964.hp1 NA19012.hp1 NA21309.hp1 NA18964.hp1 NA19012.hp1 NA21309.hp1	a0033 a0046 a0047 a0033 a0046 a0047	a0033c0068 a0046c0048 a0047c0049 a0033c0068 a0046c0048 a0047c0049	a0033c0068t0001 a0046c0048t0001 a0047c0049t0002 a0033c0068t0001 a0046c0048t0001 a0047c0049t0002	a0033c0068t0001g0152 a0046c0048t0001g0153 a0047c0049t0002g0022 a0033c0068t0001g0152 a0046c0048t0001g0153 a0047c0049t0002g0022	3	288	0.0104	c.524 others(3): Show c.524A>G	p.Asp others(6): Show p.Asp175Gly	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	636/5482	524/4794	175/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144363264	T T	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00323.hp1 HG00423.hp1 others(121): Show HG00099.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA18982.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19065.hp1 NA19083.hp1 NA19083.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0002 a0005 a0006 others(22): Show a0002 a0005 a0006 a0008 a0010 a0013 a0015 a0016 a0017 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0033 a0034 a0035 a0036 a0037	a0002c0001 a0002c0016 a0002c0061 others(28): Show a0002c0001 a0002c0016 a0002c0061 a0002c0063 a0002c0064 a0005c0006 a0006c0005 a0008c0008 a0008c0055 a0010c0009 a0013c0017 a0015c0024 a0016c0054 a0016c0065 a0017c0025 a0020c0018 a0021c0053 a0022c0058 a0023c0059 a0024c0057 a0025c0062 a0026c0060 a0027c0056 a0028c0052 a0029c0051 a0030c0050 a0033c0068 a0034c0027 a0035c0030 a0036c0029 a0037c0028	a0002c0001t0001 a0002c0016t0001 a0002c0061t0001 others(29): Show a0002c0001t0001 a0002c0016t0001 a0002c0061t0001 a0002c0063t0001 a0002c0064t0001 a0005c0006t0001 a0006c0005t0001 a0008c0008t0001 a0008c0055t0001 a0010c0009t0001 a0013c0017t0001 a0015c0024t0001 a0016c0054t0001 a0016c0065t0001 a0017c0025t0001 a0020c0018t0001 a0020c0018t0002 a0021c0053t0001 a0022c0058t0001 a0023c0059t0001 a0024c0057t0001 a0025c0062t0001 a0026c0060t0001 a0027c0056t0001 a0028c0052t0001 a0029c0051t0001 a0030c0050t0001 a0033c0068t0001 a0034c0027t0002 a0035c0030t0001 a0036c0029t0001 a0037c0028t0001	a0002c0001t0001g0001 a0002c0001t0001g0008 a0002c0001t0001g0012 others(96): Show a0002c0001t0001g0001 a0002c0001t0001g0008 a0002c0001t0001g0012 a0002c0001t0001g0024 a0002c0001t0001g0029 a0002c0001t0001g0042 a0002c0001t0001g0045 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0075 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0082 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0090 a0002c0001t0001g0091 a0002c0001t0001g0095 a0002c0001t0001g0100 a0002c0001t0001g0102 a0002c0001t0001g0104 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0110 a0002c0001t0001g0111 a0002c0001t0001g0175 a0002c0001t0001g0186 a0002c0016t0001g0074 a0002c0016t0001g0105 a0002c0016t0001g0176 a0002c0061t0001g0093 a0002c0063t0001g0076 a0002c0064t0001g0071 a0005c0006t0001g0007 a0005c0006t0001g0008 a0005c0006t0001g0027 a0005c0006t0001g0028 a0005c0006t0001g0070 a0005c0006t0001g0081 a0005c0006t0001g0083 a0005c0006t0001g0094 a0005c0006t0001g0096 a0005c0006t0001g0097 a0005c0006t0001g0099 a0005c0006t0001g0101 a0005c0006t0001g0108 a0005c0006t0001g0109 a0006c0005t0001g0001 a0006c0005t0001g0008 a0006c0005t0001g0009 a0006c0005t0001g0013 a0006c0005t0001g0025 a0006c0005t0001g0069 a0006c0005t0001g0084 a0006c0005t0001g0085 a0006c0005t0001g0103 a0006c0005t0001g0115 a0006c0005t0001g0159 a0006c0005t0001g0161 a0008c0008t0001g0026 a0008c0008t0001g0030 a0008c0008t0001g0039 a0008c0008t0001g0116 a0008c0008t0001g0117 a0008c0008t0001g0158 a0008c0008t0001g0160 a0008c0008t0001g0162 a0008c0055t0001g0001 a0010c0009t0001g0017 a0010c0009t0001g0052 a0010c0009t0001g0054 a0010c0009t0001g0055 a0010c0009t0001g0057 a0013c0017t0001g0112 a0013c0017t0001g0113 a0013c0017t0001g0163 a0015c0024t0001g0089 a0015c0024t0001g0092 a0016c0054t0001g0030 a0016c0065t0001g0157 a0017c0025t0001g0009 a0020c0018t0001g0156 a0020c0018t0002g0061 a0021c0053t0001g0118 a0022c0058t0001g0098 a0023c0059t0001g0080 a0024c0057t0001g0028 a0025c0062t0001g0024 a0026c0060t0001g0177 a0027c0056t0001g0079 a0028c0052t0001g0008 a0029c0051t0001g0185 a0030c0050t0001g0027 a0033c0068t0001g0152 a0034c0027t0002g0056 a0035c0030t0001g0001 a0036c0029t0001g0001 a0037c0028t0001g0053	124	288	0.4306	c.595 others(3): Show c.595T>G	p.Ser others(6): Show p.Ser199Ala	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	707/5482	595/4794	199/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144363303	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00323.hp1 HG00423.hp1 others(121): Show HG00099.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA18982.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19065.hp1 NA19083.hp1 NA19083.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0002 a0005 a0006 others(22): Show a0002 a0005 a0006 a0008 a0010 a0013 a0015 a0016 a0017 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0032 a0033 a0035 a0036 a0037	a0002c0001 a0002c0016 a0002c0061 others(28): Show a0002c0001 a0002c0016 a0002c0061 a0002c0063 a0002c0064 a0005c0006 a0006c0005 a0008c0008 a0008c0055 a0010c0009 a0013c0017 a0015c0024 a0016c0054 a0016c0065 a0017c0025 a0020c0018 a0021c0053 a0022c0058 a0023c0059 a0024c0057 a0025c0062 a0026c0060 a0027c0056 a0028c0052 a0029c0051 a0030c0050 a0032c0067 a0033c0068 a0035c0030 a0036c0029 a0037c0028	a0002c0001t0001 a0002c0016t0001 a0002c0061t0001 others(29): Show a0002c0001t0001 a0002c0016t0001 a0002c0061t0001 a0002c0063t0001 a0002c0064t0001 a0005c0006t0001 a0006c0005t0001 a0008c0008t0001 a0008c0055t0001 a0010c0009t0001 a0013c0017t0001 a0015c0024t0001 a0016c0054t0001 a0016c0065t0001 a0017c0025t0001 a0020c0018t0001 a0020c0018t0002 a0021c0053t0001 a0022c0058t0001 a0023c0059t0001 a0024c0057t0001 a0025c0062t0001 a0026c0060t0001 a0027c0056t0001 a0028c0052t0001 a0029c0051t0001 a0030c0050t0001 a0032c0067t0001 a0033c0068t0001 a0035c0030t0001 a0036c0029t0001 a0037c0028t0001	a0002c0001t0001g0001 a0002c0001t0001g0008 a0002c0001t0001g0012 others(96): Show a0002c0001t0001g0001 a0002c0001t0001g0008 a0002c0001t0001g0012 a0002c0001t0001g0024 a0002c0001t0001g0029 a0002c0001t0001g0042 a0002c0001t0001g0045 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0075 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0082 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0090 a0002c0001t0001g0091 a0002c0001t0001g0095 a0002c0001t0001g0100 a0002c0001t0001g0102 a0002c0001t0001g0104 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0110 a0002c0001t0001g0111 a0002c0001t0001g0175 a0002c0001t0001g0186 a0002c0016t0001g0074 a0002c0016t0001g0105 a0002c0016t0001g0176 a0002c0061t0001g0093 a0002c0063t0001g0076 a0002c0064t0001g0071 a0005c0006t0001g0007 a0005c0006t0001g0008 a0005c0006t0001g0027 a0005c0006t0001g0028 a0005c0006t0001g0070 a0005c0006t0001g0081 a0005c0006t0001g0083 a0005c0006t0001g0094 a0005c0006t0001g0096 a0005c0006t0001g0097 a0005c0006t0001g0099 a0005c0006t0001g0101 a0005c0006t0001g0108 a0005c0006t0001g0109 a0006c0005t0001g0001 a0006c0005t0001g0008 a0006c0005t0001g0009 a0006c0005t0001g0013 a0006c0005t0001g0025 a0006c0005t0001g0069 a0006c0005t0001g0084 a0006c0005t0001g0085 a0006c0005t0001g0103 a0006c0005t0001g0115 a0006c0005t0001g0159 a0006c0005t0001g0161 a0008c0008t0001g0026 a0008c0008t0001g0030 a0008c0008t0001g0039 a0008c0008t0001g0116 a0008c0008t0001g0117 a0008c0008t0001g0158 a0008c0008t0001g0160 a0008c0008t0001g0162 a0008c0055t0001g0001 a0010c0009t0001g0017 a0010c0009t0001g0052 a0010c0009t0001g0054 a0010c0009t0001g0055 a0010c0009t0001g0057 a0013c0017t0001g0112 a0013c0017t0001g0113 a0013c0017t0001g0163 a0015c0024t0001g0089 a0015c0024t0001g0092 a0016c0054t0001g0030 a0016c0065t0001g0157 a0017c0025t0001g0009 a0020c0018t0001g0156 a0020c0018t0002g0061 a0021c0053t0001g0118 a0022c0058t0001g0098 a0023c0059t0001g0080 a0024c0057t0001g0028 a0025c0062t0001g0024 a0026c0060t0001g0177 a0027c0056t0001g0079 a0028c0052t0001g0008 a0029c0051t0001g0185 a0030c0050t0001g0027 a0032c0067t0001g0178 a0033c0068t0001g0152 a0035c0030t0001g0001 a0036c0029t0001g0001 a0037c0028t0001g0053	124	288	0.4306	c.634 others(3): Show c.634C>T	p.Pro others(6): Show p.Pro212Ser	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	746/5482	634/4794	212/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144363352	A A	C C	missense_variant missense_variant	MODERATE	HG00597.hp1 HG02074.hp1 HG02165.hp2 HG00597.hp1 HG02074.hp1 HG02165.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0001 a0013c0017t0001	a0013c0017t0001g0112 a0013c0017t0001g0113 a0013c0017t0001g0163 a0013c0017t0001g0112 a0013c0017t0001g0113 a0013c0017t0001g0163	3	288	0.0104	c.683 others(3): Show c.683A>C	p.Gln others(6): Show p.Gln228Pro	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	795/5482	683/4794	228/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144363488	G G	C C	missense_variant missense_variant	MODERATE	HG00673.hp2 HG00673.hp2	a0031 a0031	a0031c0066 a0031c0066	a0031c0066t0001 a0031c0066t0001	a0031c0066t0001g0001 a0031c0066t0001g0001	1	288	0.0035	c.819 others(3): Show c.819G>C	p.Lys others(6): Show p.Lys273Asn	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	931/5482	819/4794	273/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144363594	G G	A A	missense_variant missense_variant	MODERATE	HG00673.hp1 NA18970.hp1 HG00673.hp1 NA18970.hp1	a0029 a0030 a0029 a0030	a0029c0051 a0030c0050 a0029c0051 a0030c0050	a0029c0051t0001 a0030c0050t0001 a0029c0051t0001 a0030c0050t0001	a0029c0051t0001g0185 a0030c0050t0001g0027 a0029c0051t0001g0185 a0030c0050t0001g0027	2	288	0.0069	c.925 others(3): Show c.925G>A	p.Asp others(6): Show p.Asp309Asn	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	1037/5482	925/4794	309/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144363606	A A	C C	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0001 a0017c0025t0001	a0017c0025t0001g0009 a0017c0025t0001g0009	2	288	0.0069	c.937 others(3): Show c.937A>C	p.Lys others(6): Show p.Lys313Gln	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	1049/5482	937/4794	313/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144363647	G G	C C	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0028 a0028	a0028c0052 a0028c0052	a0028c0052t0001 a0028c0052t0001	a0028c0052t0001g0008 a0028c0052t0001g0008	1	288	0.0035	c.978 others(3): Show c.978G>C	p.Arg others(6): Show p.Arg326Ser	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	1090/5482	978/4794	326/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144363709	C C	T T	missense_variant missense_variant	MODERATE	HG01496.hp1 HG01884.hp2 NA18951.hp1 others(4): Show HG01496.hp1 HG01884.hp2 NA18951.hp1 NA18977.hp1 NA18985.hp1 NA19012.hp2 NA19055.hp1	a0009 a0009	a0009c0026 a0009c0071 a0009c0073 others(3): Show a0009c0026 a0009c0071 a0009c0073 a0009c0074 a0009c0075 a0009c0076	a0009c0026t0001 a0009c0071t0001 a0009c0073t0001 others(3): Show a0009c0026t0001 a0009c0071t0001 a0009c0073t0001 a0009c0074t0001 a0009c0075t0002 a0009c0076t0001	a0009c0026t0001g0046 a0009c0026t0001g0050 a0009c0071t0001g0182 others(4): Show a0009c0026t0001g0046 a0009c0026t0001g0050 a0009c0071t0001g0182 a0009c0073t0001g0049 a0009c0074t0001g0048 a0009c0075t0002g0183 a0009c0076t0001g0047	7	288	0.0243	c.104 others(4): Show c.1040C>T	p.Thr others(6): Show p.Thr347Ile	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	1152/5482	1040/4794	347/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144363729	G G	A A	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0045 a0045	a0045c0033 a0045c0033	a0045c0033t0002 a0045c0033t0002	a0045c0033t0002g0135 a0045c0033t0002g0135	1	288	0.0035	c.106 others(4): Show c.1060G>A	p.Glu others(6): Show p.Glu354Lys	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	1172/5482	1060/4794	354/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144363954	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(169): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18964.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19065.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(29): Show a0002 a0003 a0005 a0006 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0017 a0020 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0033 a0034 a0035 a0036 a0037 a0044 a0046 a0047	a0002c0001 a0002c0016 a0002c0061 others(43): Show a0002c0001 a0002c0016 a0002c0061 a0002c0063 a0002c0064 a0003c0004 a0003c0012 a0003c0014 a0003c0032 a0003c0047 a0005c0006 a0006c0005 a0008c0008 a0008c0055 a0009c0070 a0009c0072 a0010c0009 a0011c0023 a0011c0043 a0011c0044 a0011c0045 a0013c0017 a0014c0015 a0015c0024 a0016c0054 a0016c0065 a0017c0025 a0020c0018 a0022c0058 a0023c0059 a0024c0057 a0025c0062 a0026c0060 a0027c0056 a0028c0052 a0029c0051 a0030c0050 a0031c0066 a0033c0068 a0034c0027 a0035c0030 a0036c0029 a0037c0028 a0044c0046 a0046c0048 a0047c0049	a0002c0001t0001 a0002c0016t0001 a0002c0061t0001 others(45): Show a0002c0001t0001 a0002c0016t0001 a0002c0061t0001 a0002c0063t0001 a0002c0064t0001 a0003c0004t0002 a0003c0004t0005 a0003c0012t0002 a0003c0014t0002 a0003c0032t0002 a0003c0047t0002 a0005c0006t0001 a0006c0005t0001 a0008c0008t0001 a0008c0055t0001 a0009c0070t0001 a0009c0072t0001 a0010c0009t0001 a0011c0023t0002 a0011c0043t0002 a0011c0044t0001 a0011c0045t0001 a0013c0017t0001 a0014c0015t0002 a0015c0024t0001 a0016c0054t0001 a0016c0065t0001 a0017c0025t0001 a0020c0018t0001 a0020c0018t0002 a0022c0058t0001 a0023c0059t0001 a0024c0057t0001 a0025c0062t0001 a0026c0060t0001 a0027c0056t0001 a0028c0052t0001 a0029c0051t0001 a0030c0050t0001 a0031c0066t0001 a0033c0068t0001 a0034c0027t0002 a0035c0030t0001 a0036c0029t0001 a0037c0028t0001 a0044c0046t0002 a0046c0048t0001 a0047c0049t0002	a0002c0001t0001g0001 a0002c0001t0001g0008 a0002c0001t0001g0012 others(131): Show a0002c0001t0001g0001 a0002c0001t0001g0008 a0002c0001t0001g0012 a0002c0001t0001g0024 a0002c0001t0001g0029 a0002c0001t0001g0042 a0002c0001t0001g0045 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0075 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0082 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0090 a0002c0001t0001g0091 a0002c0001t0001g0095 a0002c0001t0001g0100 a0002c0001t0001g0102 a0002c0001t0001g0104 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0110 a0002c0001t0001g0111 a0002c0001t0001g0175 a0002c0001t0001g0186 a0002c0016t0001g0074 a0002c0016t0001g0105 a0002c0016t0001g0176 a0002c0061t0001g0093 a0002c0063t0001g0076 a0002c0064t0001g0071 a0003c0004t0002g0004 a0003c0004t0002g0011 a0003c0004t0002g0015 a0003c0004t0002g0018 a0003c0004t0002g0019 a0003c0004t0002g0021 a0003c0004t0002g0023 a0003c0004t0002g0044 a0003c0004t0002g0058 a0003c0004t0002g0060 a0003c0004t0002g0063 a0003c0004t0002g0064 a0003c0004t0002g0066 a0003c0004t0002g0129 a0003c0004t0002g0165 a0003c0004t0002g0167 a0003c0004t0005g0011 a0003c0012t0002g0006 a0003c0012t0002g0065 a0003c0014t0002g0020 a0003c0014t0002g0022 a0003c0032t0002g0059 a0003c0047t0002g0004 a0005c0006t0001g0007 a0005c0006t0001g0008 a0005c0006t0001g0027 a0005c0006t0001g0028 a0005c0006t0001g0070 a0005c0006t0001g0081 a0005c0006t0001g0083 a0005c0006t0001g0094 a0005c0006t0001g0096 a0005c0006t0001g0097 a0005c0006t0001g0099 a0005c0006t0001g0101 a0005c0006t0001g0108 a0005c0006t0001g0109 a0006c0005t0001g0001 a0006c0005t0001g0008 a0006c0005t0001g0009 a0006c0005t0001g0013 a0006c0005t0001g0025 a0006c0005t0001g0069 a0006c0005t0001g0084 a0006c0005t0001g0085 a0006c0005t0001g0103 a0006c0005t0001g0115 a0006c0005t0001g0159 a0006c0005t0001g0161 a0008c0008t0001g0026 a0008c0008t0001g0030 a0008c0008t0001g0039 a0008c0008t0001g0116 a0008c0008t0001g0117 a0008c0008t0001g0158 a0008c0008t0001g0160 a0008c0008t0001g0162 a0008c0055t0001g0001 a0009c0070t0001g0184 a0009c0072t0001g0051 a0010c0009t0001g0017 a0010c0009t0001g0052 a0010c0009t0001g0054 a0010c0009t0001g0055 a0010c0009t0001g0057 a0011c0023t0002g0067 a0011c0023t0002g0068 a0011c0043t0002g0062 a0011c0044t0001g0150 a0011c0045t0001g0151 a0013c0017t0001g0112 a0013c0017t0001g0113 a0013c0017t0001g0163 a0014c0015t0002g0004 a0014c0015t0002g0019 a0015c0024t0001g0089 a0015c0024t0001g0092 a0016c0054t0001g0030 a0016c0065t0001g0157 a0017c0025t0001g0009 a0020c0018t0001g0156 a0020c0018t0002g0061 a0022c0058t0001g0098 a0023c0059t0001g0080 a0024c0057t0001g0028 a0025c0062t0001g0024 a0026c0060t0001g0177 a0027c0056t0001g0079 a0028c0052t0001g0008 a0029c0051t0001g0185 a0030c0050t0001g0027 a0031c0066t0001g0001 a0033c0068t0001g0152 a0034c0027t0002g0056 a0035c0030t0001g0001 a0036c0029t0001g0001 a0037c0028t0001g0053 a0044c0046t0002g0015 a0046c0048t0001g0153 a0047c0049t0002g0022	172	288	0.5972	c.128 others(4): Show c.1285A>G	p.Met others(6): Show p.Met429Val	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	1397/5482	1285/4794	429/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144364024	C C	T T	missense_variant missense_variant	MODERATE	HG02135.hp2 HG02647.hp2 HG02135.hp2 HG02647.hp2	a0020 a0020	a0020c0018 a0020c0018	a0020c0018t0001 a0020c0018t0002 a0020c0018t0001 a0020c0018t0002	a0020c0018t0001g0156 a0020c0018t0002g0061 a0020c0018t0001g0156 a0020c0018t0002g0061	2	288	0.0069	c.135 others(4): Show c.1355C>T	p.Ser others(6): Show p.Ser452Leu	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	1467/5482	1355/4794	452/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144364111	A A	G G	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00741.hp2 HG01074.hp1 others(38): Show HG00140.hp1 HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01168.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG02083.hp1 HG02145.hp1 HG02165.hp1 HG02451.hp1 HG02486.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02965.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp1 HG03834.hp1 HG04204.hp1 NA18612.hp1 NA18906.hp2 NA19001.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0003 a0014 a0034 others(2): Show a0003 a0014 a0034 a0044 a0047	a0003c0004 a0003c0012 a0003c0014 others(6): Show a0003c0004 a0003c0012 a0003c0014 a0003c0032 a0003c0047 a0014c0015 a0034c0027 a0044c0046 a0047c0049	a0003c0004t0002 a0003c0004t0005 a0003c0012t0002 others(7): Show a0003c0004t0002 a0003c0004t0005 a0003c0012t0002 a0003c0014t0002 a0003c0032t0002 a0003c0047t0002 a0014c0015t0002 a0034c0027t0002 a0044c0046t0002 a0047c0049t0002	a0003c0004t0002g0004 a0003c0004t0002g0011 a0003c0004t0002g0015 others(25): Show a0003c0004t0002g0004 a0003c0004t0002g0011 a0003c0004t0002g0015 a0003c0004t0002g0018 a0003c0004t0002g0019 a0003c0004t0002g0021 a0003c0004t0002g0023 a0003c0004t0002g0044 a0003c0004t0002g0058 a0003c0004t0002g0060 a0003c0004t0002g0063 a0003c0004t0002g0064 a0003c0004t0002g0066 a0003c0004t0002g0129 a0003c0004t0002g0165 a0003c0004t0002g0167 a0003c0004t0005g0011 a0003c0012t0002g0006 a0003c0012t0002g0065 a0003c0014t0002g0020 a0003c0014t0002g0022 a0003c0032t0002g0059 a0003c0047t0002g0004 a0014c0015t0002g0004 a0014c0015t0002g0019 a0034c0027t0002g0056 a0044c0046t0002g0015 a0047c0049t0002g0022	41	288	0.1424	c.144 others(4): Show c.1442A>G	p.Gln others(6): Show p.Gln481Arg	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	1554/5482	1442/4794	481/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144364129	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(219): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18964.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18982.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19057.hp1 NA19065.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(33): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0017 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0043 a0044 a0046 a0047	a0002c0001 a0002c0016 a0002c0061 others(56): Show a0002c0001 a0002c0016 a0002c0061 a0002c0063 a0002c0064 a0003c0004 a0003c0012 a0003c0014 a0003c0032 a0003c0047 a0004c0003 a0005c0006 a0006c0005 a0007c0007 a0007c0011 a0007c0041 a0007c0042 a0008c0008 a0008c0055 a0009c0026 a0009c0070 a0009c0071 a0009c0072 a0009c0073 a0009c0074 a0009c0075 a0009c0076 a0010c0009 a0011c0023 a0011c0043 a0011c0044 a0011c0045 a0013c0017 a0014c0015 a0015c0024 a0016c0054 a0016c0065 a0017c0025 a0021c0053 a0022c0058 a0023c0059 a0024c0057 a0025c0062 a0026c0060 a0027c0056 a0028c0052 a0029c0051 a0030c0050 a0031c0066 a0032c0067 a0033c0068 a0034c0027 a0035c0030 a0036c0029 a0037c0028 a0043c0031 a0044c0046 a0046c0048 a0047c0049	a0002c0001t0001 a0002c0016t0001 a0002c0061t0001 others(57): Show a0002c0001t0001 a0002c0016t0001 a0002c0061t0001 a0002c0063t0001 a0002c0064t0001 a0003c0004t0002 a0003c0004t0005 a0003c0012t0002 a0003c0014t0002 a0003c0032t0002 a0003c0047t0002 a0004c0003t0001 a0005c0006t0001 a0006c0005t0001 a0007c0007t0003 a0007c0011t0002 a0007c0041t0001 a0007c0042t0001 a0008c0008t0001 a0008c0055t0001 a0009c0026t0001 a0009c0070t0001 a0009c0071t0001 a0009c0072t0001 a0009c0073t0001 a0009c0074t0001 a0009c0075t0002 a0009c0076t0001 a0010c0009t0001 a0011c0023t0002 a0011c0043t0002 a0011c0044t0001 a0011c0045t0001 a0013c0017t0001 a0014c0015t0002 a0015c0024t0001 a0016c0054t0001 a0016c0065t0001 a0017c0025t0001 a0021c0053t0001 a0022c0058t0001 a0023c0059t0001 a0024c0057t0001 a0025c0062t0001 a0026c0060t0001 a0027c0056t0001 a0028c0052t0001 a0029c0051t0001 a0030c0050t0001 a0031c0066t0001 a0032c0067t0001 a0033c0068t0001 a0034c0027t0002 a0035c0030t0001 a0036c0029t0001 a0037c0028t0001 a0043c0031t0003 a0044c0046t0002 a0046c0048t0001 a0047c0049t0002	a0002c0001t0001g0001 a0002c0001t0001g0008 a0002c0001t0001g0012 others(161): Show a0002c0001t0001g0001 a0002c0001t0001g0008 a0002c0001t0001g0012 a0002c0001t0001g0024 a0002c0001t0001g0029 a0002c0001t0001g0042 a0002c0001t0001g0045 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0075 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0082 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0090 a0002c0001t0001g0091 a0002c0001t0001g0095 a0002c0001t0001g0100 a0002c0001t0001g0102 a0002c0001t0001g0104 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0110 a0002c0001t0001g0111 a0002c0001t0001g0175 a0002c0001t0001g0186 a0002c0016t0001g0074 a0002c0016t0001g0105 a0002c0016t0001g0176 a0002c0061t0001g0093 a0002c0063t0001g0076 a0002c0064t0001g0071 a0003c0004t0002g0004 a0003c0004t0002g0011 a0003c0004t0002g0015 a0003c0004t0002g0018 a0003c0004t0002g0019 a0003c0004t0002g0021 a0003c0004t0002g0023 a0003c0004t0002g0044 a0003c0004t0002g0058 a0003c0004t0002g0060 a0003c0004t0002g0063 a0003c0004t0002g0064 a0003c0004t0002g0066 a0003c0004t0002g0129 a0003c0004t0002g0165 a0003c0004t0002g0167 a0003c0004t0005g0011 a0003c0012t0002g0006 a0003c0012t0002g0065 a0003c0014t0002g0020 a0003c0014t0002g0022 a0003c0032t0002g0059 a0003c0047t0002g0004 a0004c0003t0001g0002 a0004c0003t0001g0040 a0004c0003t0001g0041 a0004c0003t0001g0043 a0004c0003t0001g0154 a0004c0003t0001g0155 a0004c0003t0001g0168 a0004c0003t0001g0169 a0004c0003t0001g0170 a0004c0003t0001g0180 a0004c0003t0001g0181 a0005c0006t0001g0007 a0005c0006t0001g0008 a0005c0006t0001g0027 a0005c0006t0001g0028 a0005c0006t0001g0070 a0005c0006t0001g0081 a0005c0006t0001g0083 a0005c0006t0001g0094 a0005c0006t0001g0096 a0005c0006t0001g0097 a0005c0006t0001g0099 a0005c0006t0001g0101 a0005c0006t0001g0108 a0005c0006t0001g0109 a0006c0005t0001g0001 a0006c0005t0001g0008 a0006c0005t0001g0009 a0006c0005t0001g0013 a0006c0005t0001g0025 a0006c0005t0001g0069 a0006c0005t0001g0084 a0006c0005t0001g0085 a0006c0005t0001g0103 a0006c0005t0001g0115 a0006c0005t0001g0159 a0006c0005t0001g0161 a0007c0007t0003g0014 a0007c0007t0003g0033 a0007c0007t0003g0034 a0007c0007t0003g0119 a0007c0007t0003g0123 a0007c0007t0003g0124 a0007c0007t0003g0133 a0007c0011t0002g0010 a0007c0011t0002g0164 a0007c0041t0001g0002 a0007c0042t0001g0179 a0008c0008t0001g0026 a0008c0008t0001g0030 a0008c0008t0001g0039 a0008c0008t0001g0116 a0008c0008t0001g0117 a0008c0008t0001g0158 a0008c0008t0001g0160 a0008c0008t0001g0162 a0008c0055t0001g0001 a0009c0026t0001g0046 a0009c0026t0001g0050 a0009c0070t0001g0184 a0009c0071t0001g0182 a0009c0072t0001g0051 a0009c0073t0001g0049 a0009c0074t0001g0048 a0009c0075t0002g0183 a0009c0076t0001g0047 a0010c0009t0001g0017 a0010c0009t0001g0052 a0010c0009t0001g0054 a0010c0009t0001g0055 a0010c0009t0001g0057 a0011c0023t0002g0067 a0011c0023t0002g0068 a0011c0043t0002g0062 a0011c0044t0001g0150 a0011c0045t0001g0151 a0013c0017t0001g0112 a0013c0017t0001g0113 a0013c0017t0001g0163 a0014c0015t0002g0004 a0014c0015t0002g0019 a0015c0024t0001g0089 a0015c0024t0001g0092 a0016c0054t0001g0030 a0016c0065t0001g0157 a0017c0025t0001g0009 a0021c0053t0001g0118 a0022c0058t0001g0098 a0023c0059t0001g0080 a0024c0057t0001g0028 a0025c0062t0001g0024 a0026c0060t0001g0177 a0027c0056t0001g0079 a0028c0052t0001g0008 a0029c0051t0001g0185 a0030c0050t0001g0027 a0031c0066t0001g0001 a0032c0067t0001g0178 a0033c0068t0001g0152 a0034c0027t0002g0056 a0035c0030t0001g0001 a0036c0029t0001g0001 a0037c0028t0001g0053 a0043c0031t0003g0034 a0044c0046t0002g0015 a0046c0048t0001g0153 a0047c0049t0002g0022	222	288	0.7708	c.146 others(4): Show c.1460A>G	p.Glu others(6): Show p.Glu487Gly	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	1572/5482	1460/4794	487/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144364321	G G	A A	missense_variant missense_variant	MODERATE	NA18985.hp1 NA19012.hp2 NA18985.hp1 NA19012.hp2	a0009 a0009	a0009c0073 a0009c0074 a0009c0073 a0009c0074	a0009c0073t0001 a0009c0074t0001 a0009c0073t0001 a0009c0074t0001	a0009c0073t0001g0049 a0009c0074t0001g0048 a0009c0073t0001g0049 a0009c0074t0001g0048	2	288	0.0069	c.165 others(4): Show c.1652G>A	p.Arg others(6): Show p.Arg551His	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	1764/5482	1652/4794	551/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144364393	C C	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(22): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01993.hp1 HG02015.hp1 HG02293.hp1 HG02698.hp1 HG02735.hp1 HG03490.hp2 HG03516.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 NA19002.hp1 NA20805.hp2 NA20905.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0002 a0004c0003t0001g0040 a0004c0003t0001g0041 others(8): Show a0004c0003t0001g0002 a0004c0003t0001g0040 a0004c0003t0001g0041 a0004c0003t0001g0043 a0004c0003t0001g0154 a0004c0003t0001g0155 a0004c0003t0001g0168 a0004c0003t0001g0169 a0004c0003t0001g0170 a0004c0003t0001g0180 a0004c0003t0001g0181	25	288	0.0868	c.172 others(4): Show c.1724C>A	p.Pro others(6): Show p.Pro575Gln	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	1836/5482	1724/4794	575/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144364407	G G	T T	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00544.hp1 HG00544.hp2 others(78): Show HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02738.hp1 HG02895.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03831.hp1 HG03927.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA18982.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19083.hp1 NA19083.hp2 NA19088.hp1 NA20905.hp1	a0002 a0005 a0013 others(13): Show a0002 a0005 a0013 a0015 a0022 a0023 a0024 a0025 a0026 a0028 a0029 a0030 a0031 a0033 a0035 a0036	a0002c0001 a0002c0016 a0002c0061 others(17): Show a0002c0001 a0002c0016 a0002c0061 a0002c0063 a0002c0064 a0005c0006 a0013c0017 a0015c0024 a0022c0058 a0023c0059 a0024c0057 a0025c0062 a0026c0060 a0028c0052 a0029c0051 a0030c0050 a0031c0066 a0033c0068 a0035c0030 a0036c0029	a0002c0001t0001 a0002c0016t0001 a0002c0061t0001 others(17): Show a0002c0001t0001 a0002c0016t0001 a0002c0061t0001 a0002c0063t0001 a0002c0064t0001 a0005c0006t0001 a0013c0017t0001 a0015c0024t0001 a0022c0058t0001 a0023c0059t0001 a0024c0057t0001 a0025c0062t0001 a0026c0060t0001 a0028c0052t0001 a0029c0051t0001 a0030c0050t0001 a0031c0066t0001 a0033c0068t0001 a0035c0030t0001 a0036c0029t0001	a0002c0001t0001g0001 a0002c0001t0001g0008 a0002c0001t0001g0012 others(62): Show a0002c0001t0001g0001 a0002c0001t0001g0008 a0002c0001t0001g0012 a0002c0001t0001g0024 a0002c0001t0001g0029 a0002c0001t0001g0042 a0002c0001t0001g0045 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0075 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0082 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0090 a0002c0001t0001g0091 a0002c0001t0001g0095 a0002c0001t0001g0100 a0002c0001t0001g0102 a0002c0001t0001g0104 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0110 a0002c0001t0001g0111 a0002c0001t0001g0175 a0002c0001t0001g0186 a0002c0016t0001g0074 a0002c0016t0001g0105 a0002c0016t0001g0176 a0002c0061t0001g0093 a0002c0063t0001g0076 a0002c0064t0001g0071 a0005c0006t0001g0007 a0005c0006t0001g0008 a0005c0006t0001g0027 a0005c0006t0001g0028 a0005c0006t0001g0070 a0005c0006t0001g0081 a0005c0006t0001g0083 a0005c0006t0001g0094 a0005c0006t0001g0096 a0005c0006t0001g0097 a0005c0006t0001g0099 a0005c0006t0001g0101 a0005c0006t0001g0108 a0005c0006t0001g0109 a0013c0017t0001g0112 a0013c0017t0001g0113 a0013c0017t0001g0163 a0015c0024t0001g0089 a0015c0024t0001g0092 a0022c0058t0001g0098 a0023c0059t0001g0080 a0024c0057t0001g0028 a0025c0062t0001g0024 a0026c0060t0001g0177 a0028c0052t0001g0008 a0029c0051t0001g0185 a0030c0050t0001g0027 a0031c0066t0001g0001 a0033c0068t0001g0152 a0035c0030t0001g0001 a0036c0029t0001g0001	81	288	0.2813	c.173 others(4): Show c.1738G>T	p.Gly others(6): Show p.Gly580Cys	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	1850/5482	1738/4794	580/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144364479	A A	C C	missense_variant missense_variant	MODERATE	HG02027.hp1 HG02027.hp1	a0038 a0038	a0038c0040 a0038c0040	a0038c0040t0002 a0038c0040t0002	a0038c0040t0002g0003 a0038c0040t0002g0003	1	288	0.0035	c.181 others(4): Show c.1810A>C	p.Ser others(6): Show p.Ser604Arg	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	1922/5482	1810/4794	604/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144364514	G G	C C	missense_variant missense_variant	MODERATE	HG00544.hp1 HG00597.hp1 HG00597.hp2 others(44): Show HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG02074.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp2 HG02622.hp1 HG02630.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03927.hp1 HG03927.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18970.hp1 NA19030.hp1 NA19030.hp2 NA19088.hp1 NA20129.hp1 NA20752.hp1	a0005 a0008 a0010 others(10): Show a0005 a0008 a0010 a0013 a0016 a0021 a0022 a0023 a0024 a0028 a0029 a0030 a0037	a0005c0006 a0008c0008 a0008c0055 others(12): Show a0005c0006 a0008c0008 a0008c0055 a0010c0009 a0013c0017 a0016c0054 a0016c0065 a0021c0053 a0022c0058 a0023c0059 a0024c0057 a0028c0052 a0029c0051 a0030c0050 a0037c0028	a0005c0006t0001 a0008c0008t0001 a0008c0055t0001 others(12): Show a0005c0006t0001 a0008c0008t0001 a0008c0055t0001 a0010c0009t0001 a0013c0017t0001 a0016c0054t0001 a0016c0065t0001 a0021c0053t0001 a0022c0058t0001 a0023c0059t0001 a0024c0057t0001 a0028c0052t0001 a0029c0051t0001 a0030c0050t0001 a0037c0028t0001	a0005c0006t0001g0007 a0005c0006t0001g0008 a0005c0006t0001g0027 others(38): Show a0005c0006t0001g0007 a0005c0006t0001g0008 a0005c0006t0001g0027 a0005c0006t0001g0028 a0005c0006t0001g0070 a0005c0006t0001g0081 a0005c0006t0001g0083 a0005c0006t0001g0094 a0005c0006t0001g0096 a0005c0006t0001g0097 a0005c0006t0001g0099 a0005c0006t0001g0101 a0005c0006t0001g0108 a0005c0006t0001g0109 a0008c0008t0001g0026 a0008c0008t0001g0030 a0008c0008t0001g0039 a0008c0008t0001g0116 a0008c0008t0001g0117 a0008c0008t0001g0158 a0008c0008t0001g0160 a0008c0008t0001g0162 a0008c0055t0001g0001 a0010c0009t0001g0017 a0010c0009t0001g0052 a0010c0009t0001g0054 a0010c0009t0001g0055 a0010c0009t0001g0057 a0013c0017t0001g0112 a0013c0017t0001g0113 a0013c0017t0001g0163 a0016c0054t0001g0030 a0016c0065t0001g0157 a0021c0053t0001g0118 a0022c0058t0001g0098 a0023c0059t0001g0080 a0024c0057t0001g0028 a0028c0052t0001g0008 a0029c0051t0001g0185 a0030c0050t0001g0027 a0037c0028t0001g0053	47	288	0.1632	c.184 others(4): Show c.1845G>C	p.Gln others(6): Show p.Gln615His	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	1957/5482	1845/4794	615/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144364839	C C	T T	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0032 a0032	a0032c0067 a0032c0067	a0032c0067t0001 a0032c0067t0001	a0032c0067t0001g0178 a0032c0067t0001g0178	1	288	0.0035	c.217 others(4): Show c.2170C>T	p.Pro others(6): Show p.Pro724Ser	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	2282/5482	2170/4794	724/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144365046	T T	A A	missense_variant missense_variant	MODERATE	NA19083.hp2 NA19083.hp2	a0026 a0026	a0026c0060 a0026c0060	a0026c0060t0001 a0026c0060t0001	a0026c0060t0001g0177 a0026c0060t0001g0177	1	288	0.0035	c.237 others(4): Show c.2377T>A	p.Ser others(6): Show p.Ser793Thr	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	2489/5482	2377/4794	793/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144365112	C C	G G	missense_variant missense_variant	MODERATE	HG00639.hp2 HG00642.hp2 HG01099.hp2 HG00639.hp2 HG00642.hp2 HG01099.hp2	a0018 a0039 a0018 a0039	a0018c0022 a0039c0038 a0018c0022 a0039c0038	a0018c0022t0002 a0039c0038t0002 a0018c0022t0002 a0039c0038t0002	a0018c0022t0002g0031 a0039c0038t0002g0032 a0018c0022t0002g0031 a0039c0038t0002g0032	3	288	0.0104	c.244 others(4): Show c.2443C>G	p.Pro others(6): Show p.Pro815Ala	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	2555/5482	2443/4794	815/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144365322	T T	C C	missense_variant missense_variant	MODERATE	HG01074.hp2 HG01074.hp2	a0040 a0040	a0040c0034 a0040c0034	a0040c0034t0002 a0040c0034t0002	a0040c0034t0002g0173 a0040c0034t0002g0173	1	288	0.0035	c.265 others(4): Show c.2653T>C	p.Trp others(6): Show p.Trp885Arg	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	2765/5482	2653/4794	885/1597	chr7	TogoVar
ARHGEF5_chr7_144350402_144385632	144365350	G G	T T	missense_variant missense_variant	MODERATE	HG02132.hp1 HG02132.hp1	a0023 a0023	a0023c0059 a0023c0059	a0023c0059t0001 a0023c0059t0001	a0023c0059t0001g0080 a0023c0059t0001g0080	1	288	0.0035	c.268 others(4): Show c.2681G>T	p.Gly others(6): Show p.Gly894Val	ARHGEF5	ENSG00000050327.15	transcript	ENST00000056217.10	protein_coding	2/15	2793/5482	2681/4794	894/1597	chr7	TogoVar

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