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
ANKMY1_chr2_240474422_240562988	240507580	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0001 a0010c0020t0001	a0010c0020t0001g0024 a0010c0020t0001g0025 a0010c0020t0001g0024 a0010c0020t0001g0025	2	320	0.0063	c.250 others(4): Show c.2506A>G	p.Met others(6): Show p.Met836Val	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	13/18	2631/3405	2506/3093	836/1030	chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240511901	G G	A A	missense_variant missense_variant	MODERATE	HG03669.hp1 HG03669.hp1	a0019 a0019	a0019c0032 a0019c0032	a0019c0032t0001 a0019c0032t0001	a0019c0032t0001g0219 a0019c0032t0001g0219	1	320	0.0031	c.224 others(4): Show c.2246C>T	p.Thr others(6): Show p.Thr749Met	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	11/18	2371/3405	2246/3093	749/1030	chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240511934	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00408.hp1 HG00558.hp2 others(83): Show HG00099.hp2 HG00408.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03710.hp2 NA18747.hp2 NA18950.hp2 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp2 NA18981.hp1 NA18990.hp2 NA19000.hp1 NA19006.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19060.hp1 NA19066.hp2 NA19067.hp2 NA19080.hp1 NA19082.hp2 NA19085.hp2 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp1	a0002 a0005 a0006 others(1): Show a0002 a0005 a0006 a0012	a0002c0002 a0002c0040 a0005c0005 others(2): Show a0002c0002 a0002c0040 a0005c0005 a0006c0007 a0012c0018	a0002c0002t0001 a0002c0002t0002 a0002c0040t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0040t0001 a0005c0005t0001 a0006c0007t0001 a0012c0018t0004	a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0009 others(75): Show a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0027 a0002c0002t0001g0031 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0067 a0002c0002t0001g0088 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0135 a0002c0002t0001g0163 a0002c0002t0001g0171 a0002c0002t0001g0182 a0002c0002t0001g0191 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0223 a0002c0002t0001g0227 a0002c0002t0001g0236 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0247 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0002g0298 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0040t0001g0100 a0005c0005t0001g0002 a0005c0005t0001g0005 a0005c0005t0001g0057 a0005c0005t0001g0062 a0005c0005t0001g0063 a0005c0005t0001g0064 a0005c0005t0001g0066 a0005c0005t0001g0068 a0005c0005t0001g0069 a0005c0005t0001g0079 a0005c0005t0001g0081 a0005c0005t0001g0084 a0005c0005t0001g0117 a0006c0007t0001g0038 a0006c0007t0001g0039 a0006c0007t0001g0040 a0006c0007t0001g0042 a0006c0007t0001g0044 a0006c0007t0001g0045 a0006c0007t0001g0046 a0006c0007t0001g0047 a0006c0007t0001g0262 a0006c0007t0001g0263 a0006c0007t0001g0268 a0006c0007t0001g0269 a0006c0007t0001g0295 a0012c0018t0004g0015 a0012c0018t0004g0016	86	320	0.2688	c.221 others(4): Show c.2213C>T	p.Thr others(6): Show p.Thr738Met	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	11/18	2338/3405	2213/3093	738/1030	chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240512918	T T	A A	missense_variant missense_variant	MODERATE	HG00642.hp2 HG01074.hp1 HG00642.hp2 HG01074.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0083 a0008c0015t0001g0158 a0008c0015t0001g0083 a0008c0015t0001g0158	2	320	0.0063	c.202 others(4): Show c.2029A>T	p.Ile others(6): Show p.Ile677Phe	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	10/18	2154/3405	2029/3093	677/1030	chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240523900	G G	A A	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02723.hp2 HG03209.hp2 others(1): Show HG02572.hp1 HG02723.hp2 HG03209.hp2 HG03579.hp1	a0012 a0020 a0021 a0012 a0020 a0021	a0012c0018 a0020c0025 a0021c0034 a0012c0018 a0020c0025 a0021c0034	a0012c0018t0004 a0020c0025t0004 a0021c0034t0004 a0012c0018t0004 a0020c0025t0004 a0021c0034t0004	a0012c0018t0004g0015 a0012c0018t0004g0016 a0020c0025t0004g0017 others(1): Show a0012c0018t0004g0015 a0012c0018t0004g0016 a0020c0025t0004g0017 a0021c0034t0004g0014	4	320	0.0125	c.181 others(4): Show c.1817C>T	p.Ala others(6): Show p.Ala606Val	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	8/18	1942/3405	1817/3093	606/1030	chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240524036	C C	A A	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00733.hp1 HG01106.hp1 others(45): Show HG00408.hp1 HG00733.hp1 HG01106.hp1 HG01167.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01515.hp2 HG02027.hp1 HG02165.hp2 HG02293.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03225.hp2 HG03710.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18612.hp1 NA18943.hp2 NA18956.hp1 NA18984.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19066.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp2 NA19091.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0004 a0005 a0007 others(1): Show a0004 a0005 a0007 a0018	a0004c0003 a0004c0016 a0004c0024 others(4): Show a0004c0003 a0004c0016 a0004c0024 a0005c0005 a0007c0009 a0007c0023 a0018c0033	a0004c0003t0001 a0004c0016t0001 a0004c0024t0001 others(4): Show a0004c0003t0001 a0004c0016t0001 a0004c0024t0001 a0005c0005t0001 a0007c0009t0001 a0007c0023t0001 a0018c0033t0001	a0004c0003t0001g0006 a0004c0003t0001g0058 a0004c0003t0001g0059 others(41): Show a0004c0003t0001g0006 a0004c0003t0001g0058 a0004c0003t0001g0059 a0004c0003t0001g0060 a0004c0003t0001g0061 a0004c0003t0001g0070 a0004c0003t0001g0072 a0004c0003t0001g0074 a0004c0003t0001g0075 a0004c0003t0001g0076 a0004c0003t0001g0077 a0004c0003t0001g0078 a0004c0003t0001g0080 a0004c0003t0001g0085 a0004c0003t0001g0086 a0004c0003t0001g0087 a0004c0003t0001g0090 a0004c0003t0001g0091 a0004c0003t0001g0111 a0004c0003t0001g0281 a0004c0003t0001g0282 a0004c0003t0001g0283 a0004c0016t0001g0065 a0004c0016t0001g0073 a0004c0024t0001g0055 a0005c0005t0001g0002 a0005c0005t0001g0005 a0005c0005t0001g0057 a0005c0005t0001g0062 a0005c0005t0001g0063 a0005c0005t0001g0064 a0005c0005t0001g0066 a0005c0005t0001g0068 a0005c0005t0001g0069 a0005c0005t0001g0079 a0005c0005t0001g0081 a0005c0005t0001g0084 a0005c0005t0001g0117 a0007c0009t0001g0053 a0007c0009t0001g0056 a0007c0009t0001g0089 a0007c0009t0001g0280 a0007c0023t0001g0054 a0018c0033t0001g0071	48	320	0.1500	c.168 others(4): Show c.1681G>T	p.Val others(6): Show p.Val561Leu	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	8/18	1806/3405	1681/3093	561/1030	chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240524044	T T	C C	missense_variant missense_variant	MODERATE	NA18612.hp2 NA19006.hp2 NA18612.hp2 NA19006.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0114 a0011c0017t0001g0140 a0011c0017t0001g0114 a0011c0017t0001g0140	2	320	0.0063	c.167 others(4): Show c.1673A>G	p.Glu others(6): Show p.Glu558Gly	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	8/18	1798/3405	1673/3093	558/1030	chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240524078	G G	A A	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02723.hp2 HG03579.hp1 HG02572.hp1 HG02723.hp2 HG03579.hp1	a0012 a0021 a0012 a0021	a0012c0018 a0021c0034 a0012c0018 a0021c0034	a0012c0018t0004 a0021c0034t0004 a0012c0018t0004 a0021c0034t0004	a0012c0018t0004g0015 a0012c0018t0004g0016 a0021c0034t0004g0014 a0012c0018t0004g0015 a0012c0018t0004g0016 a0021c0034t0004g0014	3	320	0.0094	c.163 others(4): Show c.1639C>T	p.Arg others(6): Show p.Arg547Trp	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	8/18	1764/3405	1639/3093	547/1030	chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240524098	T T	A A	missense_variant missense_variant	MODERATE	NA18999.hp2 NA18999.hp2	a0022 a0022	a0022c0035 a0022c0035	a0022c0035t0001 a0022c0035t0001	a0022c0035t0001g0161 a0022c0035t0001g0161	1	320	0.0031	c.161 others(4): Show c.1619A>T	p.Asp others(6): Show p.Asp540Val	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	8/18	1744/3405	1619/3093	540/1030	chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240524178	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00733.hp2 HG00741.hp1 others(39): Show HG00099.hp1 HG00733.hp2 HG00741.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp1 NA18948.hp2 NA18971.hp1 NA19030.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2	a0003 a0006 a0017 a0003 a0006 a0017	a0003c0004 a0003c0010 a0003c0011 others(4): Show a0003c0004 a0003c0010 a0003c0011 a0003c0019 a0003c0036 a0006c0007 a0017c0022	a0003c0004t0001 a0003c0010t0001 a0003c0011t0001 others(4): Show a0003c0004t0001 a0003c0010t0001 a0003c0011t0001 a0003c0019t0001 a0003c0036t0005 a0006c0007t0001 a0017c0022t0001	a0003c0004t0001g0041 a0003c0004t0001g0043 a0003c0004t0001g0253 others(39): Show a0003c0004t0001g0041 a0003c0004t0001g0043 a0003c0004t0001g0253 a0003c0004t0001g0254 a0003c0004t0001g0256 a0003c0004t0001g0257 a0003c0004t0001g0258 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0264 a0003c0004t0001g0265 a0003c0004t0001g0266 a0003c0004t0001g0267 a0003c0004t0001g0270 a0003c0004t0001g0271 a0003c0004t0001g0273 a0003c0010t0001g0255 a0003c0010t0001g0272 a0003c0010t0001g0275 a0003c0010t0001g0294 a0003c0011t0001g0048 a0003c0011t0001g0049 a0003c0011t0001g0050 a0003c0011t0001g0092 a0003c0019t0001g0051 a0003c0019t0001g0052 a0003c0036t0005g0013 a0006c0007t0001g0038 a0006c0007t0001g0039 a0006c0007t0001g0040 a0006c0007t0001g0042 a0006c0007t0001g0044 a0006c0007t0001g0045 a0006c0007t0001g0046 a0006c0007t0001g0047 a0006c0007t0001g0262 a0006c0007t0001g0263 a0006c0007t0001g0268 a0006c0007t0001g0269 a0006c0007t0001g0295 a0017c0022t0001g0093	42	320	0.1313	c.153 others(4): Show c.1539A>G	p.Ile others(6): Show p.Ile513Met	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	8/18	1664/3405	1539/3093	513/1030	chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240524222	C C	T T	missense_variant missense_variant	MODERATE	HG01106.hp1 HG04199.hp1 NA18612.hp1 others(2): Show HG01106.hp1 HG04199.hp1 NA18612.hp1 NA18943.hp2 NA18984.hp1	a0007 a0007	a0007c0009 a0007c0023 a0007c0009 a0007c0023	a0007c0009t0001 a0007c0023t0001 a0007c0009t0001 a0007c0023t0001	a0007c0009t0001g0053 a0007c0009t0001g0056 a0007c0009t0001g0089 others(2): Show a0007c0009t0001g0053 a0007c0009t0001g0056 a0007c0009t0001g0089 a0007c0009t0001g0280 a0007c0023t0001g0054	5	320	0.0156	c.149 others(4): Show c.1495G>A	p.Glu others(6): Show p.Glu499Lys	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	8/18	1620/3405	1495/3093	499/1030	chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240526266	G G	A A	missense_variant missense_variant	MODERATE	HG02027.hp2 HG02027.hp2	a0023 a0023	a0023c0041 a0023c0041	a0023c0041t0001 a0023c0041t0001	a0023c0041t0001g0231 a0023c0041t0001g0231	1	320	0.0031	c.113 others(4): Show c.1133C>T	p.Ala others(6): Show p.Ala378Val	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	6/18	1258/3405	1133/3093	378/1030	chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240529209	C C	G G	missense_variant missense_variant	MODERATE	HG03225.hp1 HG03225.hp1	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0001 a0017c0022t0001	a0017c0022t0001g0093 a0017c0022t0001g0093	1	320	0.0031	c.781 others(3): Show c.781G>C	p.Val others(6): Show p.Val261Leu	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	5/18	906/3405	781/3093	261/1030	chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240529355	C C	G G	missense_variant missense_variant	MODERATE	HG03098.hp2 HG03195.hp2 HG03098.hp2 HG03195.hp2	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0001 a0013c0013t0001	a0013c0013t0001g0202 a0013c0013t0001g0291 a0013c0013t0001g0202 a0013c0013t0001g0291	2	320	0.0063	c.635 others(3): Show c.635G>C	p.Ser others(6): Show p.Ser212Thr	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	5/18	760/3405	635/3093	212/1030	chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240529458	C C	T T	missense_variant missense_variant	MODERATE	HG02602.hp1 NA20805.hp1 HG02602.hp1 NA20805.hp1	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0001 a0014c0012t0001	a0014c0012t0001g0224 a0014c0012t0001g0225 a0014c0012t0001g0224 a0014c0012t0001g0225	2	320	0.0063	c.532 others(3): Show c.532G>A	p.Asp others(6): Show p.Asp178Asn	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	5/18	657/3405	532/3093	178/1030	chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240552924	C C	T T	missense_variant missense_variant	MODERATE	HG01346.hp1 HG01346.hp1	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0001 a0015c0021t0001	a0015c0021t0001g0112 a0015c0021t0001g0112	1	320	0.0031	c.470 others(3): Show c.470G>A	p.Arg others(6): Show p.Arg157Gln	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	4/18	595/3405	470/3093	157/1030	chr2	TogoVar
ANKMY2_chr7_16594779_16650754	16600820	C C	T T	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0012 a0006c0015t0012	a0006c0015t0012g0194 a0006c0015t0012g0194	1	402	0.0025	c.126 others(4): Show c.1267G>A	p.Glu others(6): Show p.Glu423Lys	ANKMY2	ENSG00000106524.9	transcript	ENST00000306999.7	protein_coding	10/10	1448/2489	1267/1326	423/441	chr7	TogoVar
ANKMY2_chr7_16594779_16650754	16600829	G G	A A	missense_variant missense_variant	MODERATE	HG01257.hp1 HG01257.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0002 a0005c0016t0002	a0005c0016t0002g0126 a0005c0016t0002g0126	1	402	0.0025	c.125 others(4): Show c.1258C>T	p.Leu others(6): Show p.Leu420Phe	ANKMY2	ENSG00000106524.9	transcript	ENST00000306999.7	protein_coding	10/10	1439/2489	1258/1326	420/441	chr7	TogoVar
ANKMY2_chr7_16594779_16650754	16602428	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02630.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0324 a0007c0014t0001g0324	1	402	0.0025	c.109 others(4): Show c.1093G>A	p.Glu others(6): Show p.Glu365Lys	ANKMY2	ENSG00000106524.9	transcript	ENST00000306999.7	protein_coding	9/10	1274/2489	1093/1326	365/441	chr7	TogoVar
ANKMY2_chr7_16594779_16650754	16604753	C C	T T	missense_variant missense_variant	MODERATE	NA18983.hp2 NA18983.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0002 a0008c0012t0002	a0008c0012t0002g0291 a0008c0012t0002g0291	1	402	0.0025	c.979 others(3): Show c.979G>A	p.Gly others(6): Show p.Gly327Arg	ANKMY2	ENSG00000106524.9	transcript	ENST00000306999.7	protein_coding	8/10	1160/2489	979/1326	327/441	chr7	TogoVar
ANKMY2_chr7_16594779_16650754	16610723	T T	G G	missense_variant missense_variant	MODERATE	HG02559.hp1 NA19030.hp1 HG02559.hp1 NA19030.hp1	a0003 a0003	a0003c0013 a0003c0018 a0003c0013 a0003c0018	a0003c0013t0003 a0003c0018t0003 a0003c0013t0003 a0003c0018t0003	a0003c0013t0003g0372 a0003c0018t0003g0374 a0003c0013t0003g0372 a0003c0018t0003g0374	2	402	0.0050	c.572 others(3): Show c.572A>C	p.Glu others(6): Show p.Glu191Ala	ANKMY2	ENSG00000106524.9	transcript	ENST00000306999.7	protein_coding	6/10	753/2489	572/1326	191/441	chr7	TogoVar
ANKMY2_chr7_16594779_16650754	16615764	T T	C C	missense_variant missense_variant	MODERATE	HG02895.hp1 HG02895.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0004 a0004c0019t0004	a0004c0019t0004g0050 a0004c0019t0004g0050	1	402	0.0025	c.511 others(3): Show c.511A>G	p.Thr others(6): Show p.Thr171Ala	ANKMY2	ENSG00000106524.9	transcript	ENST00000306999.7	protein_coding	5/10	692/2489	511/1326	171/441	chr7	TogoVar
ANKMY2_chr7_16594779_16650754	16627100	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00423.hp2 HG00597.hp1 others(25): Show HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00642.hp2 HG02015.hp2 HG02135.hp2 HG02155.hp1 HG03453.hp1 NA18939.hp1 NA18943.hp2 NA18951.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19067.hp1	a0002 a0008 a0002 a0008	a0002c0005 a0002c0009 a0002c0010 others(1): Show a0002c0005 a0002c0009 a0002c0010 a0008c0012	a0002c0005t0001 a0002c0005t0002 a0002c0005t0003 others(4): Show a0002c0005t0001 a0002c0005t0002 a0002c0005t0003 a0002c0005t0014 a0002c0009t0001 a0002c0010t0004 a0008c0012t0002	a0002c0005t0001g0140 a0002c0005t0001g0144 a0002c0005t0001g0288 others(25): Show a0002c0005t0001g0140 a0002c0005t0001g0144 a0002c0005t0001g0288 a0002c0005t0001g0289 a0002c0005t0001g0293 a0002c0005t0001g0356 a0002c0005t0001g0357 a0002c0005t0002g0124 a0002c0005t0002g0125 a0002c0005t0002g0138 a0002c0005t0002g0292 a0002c0005t0002g0327 a0002c0005t0002g0353 a0002c0005t0002g0358 a0002c0005t0002g0359 a0002c0005t0002g0371 a0002c0005t0003g0139 a0002c0005t0003g0142 a0002c0005t0003g0201 a0002c0005t0003g0290 a0002c0005t0003g0351 a0002c0005t0003g0355 a0002c0005t0014g0209 a0002c0009t0001g0141 a0002c0009t0001g0143 a0002c0010t0004g0350 a0002c0010t0004g0354 a0008c0012t0002g0291	28	402	0.0697	c.211 others(3): Show c.211G>A	p.Asp others(5): Show p.Asp71Asn	ANKMY2	ENSG00000106524.9	transcript	ENST00000306999.7	protein_coding	3/10	392/2489	211/1326	71/441	chr7	TogoVar
ANKRD10_chr13_110873540_110920069	110879941	G G	A A	missense_variant missense_variant	MODERATE	HG00673.hp1 HG02132.hp2 HG02145.hp1 others(39): Show HG00673.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02698.hp1 HG02738.hp2 HG03239.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG04115.hp1 HG04184.hp2 HG06807.hp1 NA18940.hp2 NA18941.hp1 NA18953.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18980.hp2 NA18988.hp1 NA18991.hp2 NA18994.hp1 NA19000.hp1 NA19002.hp2 NA19009.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19066.hp1 NA19070.hp1 NA19075.hp1 NA19086.hp2 NA19091.hp1 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0004 a0003c0005 a0002c0002 a0002c0004 a0003c0005	a0002c0002t0002 a0002c0002t0015 a0002c0004t0002 others(1): Show a0002c0002t0002 a0002c0002t0015 a0002c0004t0002 a0003c0005t0002	a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0010 others(34): Show a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0010 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0063 a0002c0002t0002g0158 a0002c0002t0002g0162 a0002c0002t0015g0034 a0002c0004t0002g0125 a0002c0004t0002g0126 a0003c0005t0002g0062	42	362	0.1160	c.959 others(3): Show c.959C>T	p.Pro others(6): Show p.Pro320Leu	ANKRD10	ENSG00000088448.14	transcript	ENST00000267339.6	protein_coding	6/6	1094/2495	959/1263	320/420	chr13	TogoVar
ANKRD10_chr13_110873540_110920069	110906039	T T	C C	missense_variant missense_variant	MODERATE	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0062 a0003c0005t0002g0062	1	362	0.0028	c.449 others(3): Show c.449A>G	p.His others(6): Show p.His150Arg	ANKRD10	ENSG00000088448.14	transcript	ENST00000267339.6	protein_coding	3/6	584/2495	449/1263	150/420	chr13	TogoVar
ANKRD11_chr16_89262630_89495561	89268555	G G	T T	missense_variant missense_variant	MODERATE	NA18979.hp1 NA18979.hp1	a0022 a0022	a0022c0039 a0022c0039	a0022c0039t0007 a0022c0039t0007	a0022c0039t0007g0268 a0022c0039t0007g0268	1	310	0.0032	c.791 others(4): Show c.7915C>A	p.Leu others(7): Show p.Leu2639Met	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	13/13	8376/9301	7915/7992	2639/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89279414	G G	C C	missense_variant missense_variant	MODERATE	HG00544.hp2 HG00558.hp2 HG00597.hp1 others(66): Show HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00741.hp1 HG01081.hp2 HG01106.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02738.hp1 HG02896.hp1 HG03017.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18953.hp2 NA18959.hp2 NA18964.hp2 NA18969.hp1 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19063.hp2 NA19067.hp1 NA19077.hp1 NA19085.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0016 a0019 others(4): Show a0002 a0016 a0019 a0022 a0026 a0031 a0033	a0002c0002 a0002c0009 a0002c0041 others(7): Show a0002c0002 a0002c0009 a0002c0041 a0002c0047 a0016c0036 a0019c0045 a0022c0039 a0026c0042 a0031c0052 a0033c0027	a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 others(12): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0009t0001 a0002c0009t0002 a0002c0041t0002 a0002c0047t0005 a0016c0036t0001 a0019c0045t0001 a0022c0039t0007 a0026c0042t0002 a0031c0052t0003 a0033c0027t0001	a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0124 others(66): Show a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0124 a0002c0002t0001g0219 a0002c0002t0001g0272 a0002c0002t0002g0022 a0002c0002t0002g0035 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0055 a0002c0002t0002g0058 a0002c0002t0002g0063 a0002c0002t0002g0094 a0002c0002t0002g0101 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0129 a0002c0002t0002g0139 a0002c0002t0002g0143 a0002c0002t0002g0153 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0173 a0002c0002t0002g0192 a0002c0002t0002g0195 a0002c0002t0002g0205 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0220 a0002c0002t0002g0222 a0002c0002t0002g0227 a0002c0002t0002g0230 a0002c0002t0002g0233 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0262 a0002c0002t0002g0269 a0002c0002t0002g0276 a0002c0002t0002g0280 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0289 a0002c0002t0002g0295 a0002c0002t0002g0299 a0002c0002t0002g0306 a0002c0002t0008g0172 a0002c0002t0009g0114 a0002c0002t0010g0121 a0002c0009t0001g0294 a0002c0009t0001g0301 a0002c0009t0002g0284 a0002c0041t0002g0103 a0002c0047t0005g0214 a0016c0036t0001g0209 a0019c0045t0001g0206 a0022c0039t0007g0268 a0026c0042t0002g0111 a0031c0052t0003g0120 a0033c0027t0001g0275	69	310	0.2226	c.712 others(4): Show c.7128C>G	p.Asp others(7): Show p.Asp2376Glu	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	7589/9301	7128/7992	2376/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89279674	G G	A A	missense_variant missense_variant	MODERATE	HG02132.hp1 HG02523.hp1 HG02132.hp1 HG02523.hp1	a0016 a0017 a0016 a0017	a0016c0036 a0017c0035 a0016c0036 a0017c0035	a0016c0036t0001 a0017c0035t0001 a0016c0036t0001 a0017c0035t0001	a0016c0036t0001g0209 a0017c0035t0001g0255 a0016c0036t0001g0209 a0017c0035t0001g0255	2	310	0.0065	c.686 others(4): Show c.6868C>T	p.Pro others(7): Show p.Pro2290Ser	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	7329/9301	6868/7992	2290/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89279715	G G	A A	missense_variant missense_variant	MODERATE	HG03139.hp2 HG03139.hp2	a0018 a0018	a0018c0046 a0018c0046	a0018c0046t0002 a0018c0046t0002	a0018c0046t0002g0125 a0018c0046t0002g0125	1	310	0.0032	c.682 others(4): Show c.6827C>T	p.Pro others(7): Show p.Pro2276Leu	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	7288/9301	6827/7992	2276/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89279751	G G	A A	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0030 a0030	a0030c0053 a0030c0053	a0030c0053t0001 a0030c0053t0001	a0030c0053t0001g0138 a0030c0053t0001g0138	1	310	0.0032	c.679 others(4): Show c.6791C>T	p.Pro others(7): Show p.Pro2264Leu	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	7252/9301	6791/7992	2264/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89279755	G G	A A	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00673.hp2 NA18950.hp1 others(8): Show HG00438.hp2 HG00673.hp2 NA18950.hp1 NA18979.hp2 NA18990.hp1 NA18994.hp2 NA19005.hp1 NA19010.hp1 NA19056.hp2 NA19063.hp1 NA20752.hp1	a0005 a0020 a0005 a0020	a0005c0005 a0020c0033 a0005c0005 a0020c0033	a0005c0005t0001 a0020c0033t0001 a0005c0005t0001 a0020c0033t0001	a0005c0005t0001g0029 a0005c0005t0001g0032 a0005c0005t0001g0033 others(8): Show a0005c0005t0001g0029 a0005c0005t0001g0032 a0005c0005t0001g0033 a0005c0005t0001g0038 a0005c0005t0001g0053 a0005c0005t0001g0068 a0005c0005t0001g0073 a0005c0005t0001g0088 a0005c0005t0001g0142 a0005c0005t0001g0174 a0020c0033t0001g0061	11	310	0.0355	c.678 others(4): Show c.6787C>T	p.Pro others(7): Show p.Pro2263Ser	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	7248/9301	6787/7992	2263/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89279812	C C	T T	missense_variant missense_variant	MODERATE	HG02809.hp1 HG02809.hp1	a0029 a0029	a0029c0049 a0029c0049	a0029c0049t0001 a0029c0049t0001	a0029c0049t0001g0265 a0029c0049t0001g0265	1	310	0.0032	c.673 others(4): Show c.6730G>A	p.Val others(7): Show p.Val2244Ile	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	7191/9301	6730/7992	2244/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89280045	A A	C C	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0023 a0023	a0023c0030 a0023c0030	a0023c0030t0001 a0023c0030t0001	a0023c0030t0001g0090 a0023c0030t0001g0090	1	310	0.0032	c.649 others(4): Show c.6497T>G	p.Met others(7): Show p.Met2166Arg	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	6958/9301	6497/7992	2166/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89280366	G G	T T	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(31): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00673.hp1 HG01257.hp1 HG01258.hp2 HG01934.hp2 HG01943.hp1 HG02071.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02735.hp2 HG03491.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18952.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18969.hp2 NA18990.hp2 NA18993.hp1 NA19010.hp2 NA19012.hp1 NA19077.hp2	a0004 a0016 a0017 a0004 a0016 a0017	a0004c0004 a0004c0034 a0016c0036 others(1): Show a0004c0004 a0004c0034 a0016c0036 a0017c0035	a0004c0004t0001 a0004c0034t0001 a0016c0036t0001 others(1): Show a0004c0004t0001 a0004c0034t0001 a0016c0036t0001 a0017c0035t0001	a0004c0004t0001g0005 a0004c0004t0001g0009 a0004c0004t0001g0093 others(31): Show a0004c0004t0001g0005 a0004c0004t0001g0009 a0004c0004t0001g0093 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0100 a0004c0004t0001g0119 a0004c0004t0001g0152 a0004c0004t0001g0154 a0004c0004t0001g0165 a0004c0004t0001g0203 a0004c0004t0001g0207 a0004c0004t0001g0208 a0004c0004t0001g0210 a0004c0004t0001g0211 a0004c0004t0001g0213 a0004c0004t0001g0217 a0004c0004t0001g0234 a0004c0004t0001g0251 a0004c0004t0001g0252 a0004c0004t0001g0253 a0004c0004t0001g0254 a0004c0004t0001g0256 a0004c0004t0001g0257 a0004c0004t0001g0259 a0004c0004t0001g0261 a0004c0004t0001g0279 a0004c0004t0001g0288 a0004c0004t0001g0290 a0004c0004t0001g0291 a0004c0004t0001g0293 a0004c0034t0001g0037 a0016c0036t0001g0209 a0017c0035t0001g0255	34	310	0.1097	c.617 others(4): Show c.6176C>A	p.Pro others(7): Show p.Pro2059His	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	6637/9301	6176/7992	2059/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89280430	T T	C C	missense_variant missense_variant	MODERATE	HG03942.hp2 HG03942.hp2	a0021 a0021	a0021c0040 a0021c0040	a0021c0040t0002 a0021c0040t0002	a0021c0040t0002g0246 a0021c0040t0002g0246	1	310	0.0032	c.611 others(4): Show c.6112A>G	p.Lys others(7): Show p.Lys2038Glu	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	6573/9301	6112/7992	2038/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89280436	C C	T T	missense_variant missense_variant	MODERATE	HG02258.hp1 HG03579.hp1 HG02258.hp1 HG03579.hp1	a0012 a0012	a0012c0048 a0012c0057 a0012c0048 a0012c0057	a0012c0048t0012 a0012c0057t0001 a0012c0048t0012 a0012c0057t0001	a0012c0048t0012g0066 a0012c0057t0001g0122 a0012c0048t0012g0066 a0012c0057t0001g0122	2	310	0.0065	c.610 others(4): Show c.6106G>A	p.Asp others(7): Show p.Asp2036Asn	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	6567/9301	6106/7992	2036/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89280475	C C	G G	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00673.hp2 HG02723.hp1 others(10): Show HG00438.hp2 HG00673.hp2 HG02723.hp1 HG03486.hp2 NA18950.hp1 NA18979.hp2 NA18990.hp1 NA18994.hp2 NA19005.hp1 NA19010.hp1 NA19056.hp2 NA19063.hp1 NA20752.hp1	a0005 a0010 a0020 a0005 a0010 a0020	a0005c0005 a0010c0029 a0010c0037 others(1): Show a0005c0005 a0010c0029 a0010c0037 a0020c0033	a0005c0005t0001 a0010c0029t0001 a0010c0037t0001 others(1): Show a0005c0005t0001 a0010c0029t0001 a0010c0037t0001 a0020c0033t0001	a0005c0005t0001g0029 a0005c0005t0001g0032 a0005c0005t0001g0033 others(10): Show a0005c0005t0001g0029 a0005c0005t0001g0032 a0005c0005t0001g0033 a0005c0005t0001g0038 a0005c0005t0001g0053 a0005c0005t0001g0068 a0005c0005t0001g0073 a0005c0005t0001g0088 a0005c0005t0001g0142 a0005c0005t0001g0174 a0010c0029t0001g0136 a0010c0037t0001g0141 a0020c0033t0001g0061	13	310	0.0419	c.606 others(4): Show c.6067G>C	p.Ala others(7): Show p.Ala2023Pro	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	6528/9301	6067/7992	2023/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89280522	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02055.hp1 HG01891.hp2 HG02055.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0003 a0011c0014t0003	a0011c0014t0003g0089 a0011c0014t0003g0271 a0011c0014t0003g0089 a0011c0014t0003g0271	2	310	0.0065	c.602 others(4): Show c.6020C>T	p.Pro others(7): Show p.Pro2007Leu	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	6481/9301	6020/7992	2007/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89280877	T T	C C	missense_variant missense_variant	MODERATE	HG02523.hp1 HG02523.hp1	a0016 a0016	a0016c0036 a0016c0036	a0016c0036t0001 a0016c0036t0001	a0016c0036t0001g0209 a0016c0036t0001g0209	1	310	0.0032	c.566 others(4): Show c.5665A>G	p.Lys others(7): Show p.Lys1889Glu	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	6126/9301	5665/7992	1889/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89281033	G G	A A	missense_variant missense_variant	MODERATE	HG01123.hp1 HG01261.hp2 HG01346.hp1 HG01123.hp1 HG01261.hp2 HG01346.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0128 a0007c0012t0001g0158 a0007c0012t0001g0161 a0007c0012t0001g0128 a0007c0012t0001g0158 a0007c0012t0001g0161	3	310	0.0097	c.550 others(4): Show c.5509C>T	p.Pro others(7): Show p.Pro1837Ser	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	5970/9301	5509/7992	1837/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89281078	C C	T T	missense_variant missense_variant	MODERATE	HG02165.hp2 HG02165.hp2	a0024 a0024	a0024c0028 a0024c0028	a0024c0028t0001 a0024c0028t0001	a0024c0028t0001g0204 a0024c0028t0001g0204	1	310	0.0032	c.546 others(4): Show c.5464G>A	p.Asp others(7): Show p.Asp1822Asn	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	5925/9301	5464/7992	1822/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89281242	G G	A A	missense_variant missense_variant	MODERATE	HG01928.hp1 HG01928.hp1	a0025 a0025	a0025c0032 a0025c0032	a0025c0032t0001 a0025c0032t0001	a0025c0032t0001g0077 a0025c0032t0001g0077	1	310	0.0032	c.530 others(4): Show c.5300C>T	p.Ala others(7): Show p.Ala1767Val	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	5761/9301	5300/7992	1767/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89281454	G G	C C	missense_variant missense_variant	MODERATE	HG03130.hp2 HG03209.hp2 HG03130.hp2 HG03209.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0004 a0013c0019t0004	a0013c0019t0004g0083 a0013c0019t0004g0084 a0013c0019t0004g0083 a0013c0019t0004g0084	2	310	0.0065	c.508 others(4): Show c.5088C>G	p.Asp others(7): Show p.Asp1696Glu	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	5549/9301	5088/7992	1696/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89281512	T T	C C	missense_variant missense_variant	MODERATE	HG00621.hp1 HG00621.hp1	a0026 a0026	a0026c0042 a0026c0042	a0026c0042t0002 a0026c0042t0002	a0026c0042t0002g0111 a0026c0042t0002g0111	1	310	0.0032	c.503 others(4): Show c.5030A>G	p.Lys others(7): Show p.Lys1677Arg	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	5491/9301	5030/7992	1677/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89281551	G G	A A	missense_variant missense_variant	MODERATE	NA20805.hp2 NA20805.hp2	a0027 a0027	a0027c0043 a0027c0043	a0027c0043t0001 a0027c0043t0001	a0027c0043t0001g0178 a0027c0043t0001g0178	1	310	0.0032	c.499 others(4): Show c.4991C>T	p.Ala others(7): Show p.Ala1664Val	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	5452/9301	4991/7992	1664/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89281630	G G	C C	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(42): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00673.hp1 HG01109.hp1 HG01257.hp1 HG01258.hp2 HG01934.hp2 HG01943.hp1 HG02015.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02735.hp2 HG02965.hp2 HG03139.hp2 HG03491.hp2 HG03688.hp2 HG03710.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18952.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18969.hp2 NA18990.hp2 NA18993.hp1 NA19005.hp1 NA19010.hp2 NA19012.hp1 NA19077.hp2 NA19080.hp2	a0004 a0006 a0008 others(6): Show a0004 a0006 a0008 a0016 a0017 a0018 a0019 a0020 a0028	a0004c0004 a0004c0034 a0006c0010 others(9): Show a0004c0004 a0004c0034 a0006c0010 a0006c0044 a0008c0021 a0008c0059 a0016c0036 a0017c0035 a0018c0046 a0019c0045 a0020c0033 a0028c0056	a0004c0004t0001 a0004c0034t0001 a0006c0010t0001 others(9): Show a0004c0004t0001 a0004c0034t0001 a0006c0010t0001 a0006c0044t0002 a0008c0021t0002 a0008c0059t0001 a0016c0036t0001 a0017c0035t0001 a0018c0046t0002 a0019c0045t0001 a0020c0033t0001 a0028c0056t0001	a0004c0004t0001g0005 a0004c0004t0001g0009 a0004c0004t0001g0093 others(42): Show a0004c0004t0001g0005 a0004c0004t0001g0009 a0004c0004t0001g0093 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0100 a0004c0004t0001g0119 a0004c0004t0001g0152 a0004c0004t0001g0154 a0004c0004t0001g0165 a0004c0004t0001g0203 a0004c0004t0001g0207 a0004c0004t0001g0208 a0004c0004t0001g0210 a0004c0004t0001g0211 a0004c0004t0001g0213 a0004c0004t0001g0217 a0004c0004t0001g0234 a0004c0004t0001g0251 a0004c0004t0001g0252 a0004c0004t0001g0253 a0004c0004t0001g0254 a0004c0004t0001g0256 a0004c0004t0001g0257 a0004c0004t0001g0259 a0004c0004t0001g0261 a0004c0004t0001g0279 a0004c0004t0001g0288 a0004c0004t0001g0290 a0004c0004t0001g0291 a0004c0004t0001g0293 a0004c0034t0001g0037 a0006c0010t0001g0189 a0006c0010t0001g0226 a0006c0010t0001g0228 a0006c0044t0002g0144 a0008c0021t0002g0194 a0008c0021t0002g0267 a0008c0059t0001g0264 a0016c0036t0001g0209 a0017c0035t0001g0255 a0018c0046t0002g0125 a0019c0045t0001g0206 a0020c0033t0001g0061 a0028c0056t0001g0127	45	310	0.1452	c.491 others(4): Show c.4912C>G	p.Pro others(7): Show p.Pro1638Ala	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	5373/9301	4912/7992	1638/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89283111	G G	A A	missense_variant missense_variant	MODERATE	HG00423.hp1 NA19086.hp1 HG00423.hp1 NA19086.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0297 a0009c0016t0001g0308 a0009c0016t0001g0297 a0009c0016t0001g0308	2	310	0.0065	c.343 others(4): Show c.3431C>T	p.Pro others(7): Show p.Pro1144Leu	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	3892/9301	3431/7992	1144/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89283630	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(132): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18947.hp2 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18966.hp1 NA18966.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18984.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19067.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19086.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0007 a0011 others(9): Show a0001 a0007 a0011 a0012 a0013 a0014 a0015 a0028 a0029 a0030 a0031 a0032	a0001c0001 a0001c0006 a0001c0007 others(19): Show a0001c0001 a0001c0006 a0001c0007 a0001c0011 a0001c0018 a0001c0022 a0001c0024 a0001c0051 a0001c0054 a0001c0055 a0007c0012 a0011c0014 a0012c0048 a0012c0057 a0013c0019 a0014c0058 a0015c0026 a0028c0056 a0029c0049 a0030c0053 a0031c0052 a0032c0050	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0006t0001 a0001c0006t0003 a0001c0007t0001 a0001c0011t0001 a0001c0018t0001 a0001c0022t0001 a0001c0024t0001 a0001c0051t0001 a0001c0054t0001 a0001c0055t0001 a0007c0012t0001 a0011c0014t0003 a0012c0048t0012 a0012c0057t0001 a0013c0019t0004 a0014c0058t0001 a0015c0026t0001 a0028c0056t0001 a0029c0049t0001 a0030c0053t0001 a0031c0052t0003 a0032c0050t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(132): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0002g0056 a0001c0001t0002g0223 a0001c0001t0002g0292 a0001c0001t0006g0248 a0001c0001t0011g0057 a0001c0006t0001g0225 a0001c0006t0003g0001 a0001c0006t0003g0026 a0001c0006t0003g0126 a0001c0006t0003g0163 a0001c0006t0003g0175 a0001c0007t0001g0071 a0001c0007t0001g0092 a0001c0007t0001g0147 a0001c0007t0001g0148 a0001c0007t0001g0235 a0001c0011t0001g0193 a0001c0011t0001g0212 a0001c0011t0001g0232 a0001c0018t0001g0266 a0001c0018t0001g0278 a0001c0022t0001g0123 a0001c0022t0001g0263 a0001c0024t0001g0270 a0001c0051t0001g0012 a0001c0054t0001g0050 a0001c0055t0001g0097 a0007c0012t0001g0128 a0007c0012t0001g0158 a0007c0012t0001g0161 a0011c0014t0003g0089 a0011c0014t0003g0271 a0012c0048t0012g0066 a0012c0057t0001g0122 a0013c0019t0004g0083 a0013c0019t0004g0084 a0014c0058t0001g0013 a0015c0026t0001g0239 a0028c0056t0001g0127 a0029c0049t0001g0265 a0030c0053t0001g0138 a0031c0052t0003g0120 a0032c0050t0001g0067	135	310	0.4355	c.291 others(4): Show c.2912C>T	p.Ala others(6): Show p.Ala971Val	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	3373/9301	2912/7992	971/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89284003	C C	T T	missense_variant missense_variant	MODERATE	HG02615.hp2 HG02615.hp2	a0033 a0033	a0033c0027 a0033c0027	a0033c0027t0001 a0033c0027t0001	a0033c0027t0001g0275 a0033c0027t0001g0275	1	310	0.0032	c.253 others(4): Show c.2539G>A	p.Asp others(6): Show p.Asp847Asn	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	3000/9301	2539/7992	847/2663	chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89284116	C C	T T	missense_variant missense_variant	MODERATE	NA18956.hp2 NA18956.hp2	a0015 a0015	a0015c0026 a0015c0026	a0015c0026t0001 a0015c0026t0001	a0015c0026t0001g0239 a0015c0026t0001g0239	1	310	0.0032	c.242 others(4): Show c.2426G>A	p.Arg others(6): Show p.Arg809Lys	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	9/13	2887/9301	2426/7992	809/2663	chr16	TogoVar

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