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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Select column to sort.

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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
ANKS3_chr16_4691511_4739271	4727112	A A	G G	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01071.hp2 NA18960.hp1 HG01070.hp1 HG01071.hp2 NA18960.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0011 a0005c0008t0001g0181 a0005c0008t0001g0011 a0005c0008t0001g0181	3	374	0.0080	c.236 others(3): Show c.236T>C	p.Ile others(5): Show p.Ile79Thr	ANKS3	ENSG00000168096.15	transcript	ENST00000304283.9	protein_coding	4/18	640/2772	236/1971	79/656	chr16	TogoVar
ANKS3_chr16_4691511_4739271	4729981	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03704.hp2 HG03704.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0001 a0016c0026t0001	a0016c0026t0001g0278 a0016c0026t0001g0278	1	374	0.0027	c.169 others(3): Show c.169C>T	p.Arg others(5): Show p.Arg57Trp	ANKS3	ENSG00000168096.15	transcript	ENST00000304283.9	protein_coding	3/18	573/2772	169/1971	57/656	chr16	TogoVar
ANKS3_chr16_4691511_4739271	4730076	C C	T T	missense_variant missense_variant	MODERATE	HG02622.hp1 HG03098.hp2 HG03130.hp1 HG02622.hp1 HG03098.hp2 HG03130.hp1	a0006 a0009 a0006 a0009	a0006c0010 a0009c0014 a0006c0010 a0009c0014	a0006c0010t0009 a0009c0014t0009 a0006c0010t0009 a0009c0014t0009	a0006c0010t0009g0113 a0006c0010t0009g0115 a0009c0014t0009g0114 a0006c0010t0009g0113 a0006c0010t0009g0115 a0009c0014t0009g0114	3	374	0.0080	c.74G others(2): Show c.74G>A	p.Gly others(5): Show p.Gly25Glu	ANKS3	ENSG00000168096.15	transcript	ENST00000304283.9	protein_coding	3/18	478/2772	74/1971	25/656	chr16	TogoVar
ANKS4B_chr16_21228699_21258850	21249988	A A	G G	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02630.hp1 HG02723.hp1 others(5): Show HG02572.hp2 HG02630.hp1 HG02723.hp1 HG02970.hp2 HG02976.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0045 a0002c0002t0004 a0002c0002t0045	a0002c0002t0004g0013 a0002c0002t0004g0068 a0002c0002t0045g0198 a0002c0002t0004g0013 a0002c0002t0004g0068 a0002c0002t0045g0198	8	426	0.0188	c.422 others(3): Show c.422A>G	p.Lys others(6): Show p.Lys141Arg	ANKS4B	ENSG00000175311.7	transcript	ENST00000311620.7	protein_coding	2/2	461/4323	422/1254	141/417	chr16	TogoVar
ANKS4B_chr16_21228699_21258850	21249993	G G	A A	missense_variant missense_variant	MODERATE	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0046 a0005c0008t0001g0046	1	426	0.0024	c.427 others(3): Show c.427G>A	p.Ala others(6): Show p.Ala143Thr	ANKS4B	ENSG00000175311.7	transcript	ENST00000311620.7	protein_coding	2/2	466/4323	427/1254	143/417	chr16	TogoVar
ANKS4B_chr16_21228699_21258850	21250254	G G	A A	missense_variant missense_variant	MODERATE	HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01257.hp2 HG01258.hp1 HG01433.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0002 a0003c0004t0005g0042 a0003c0004t0005g0002 a0003c0004t0005g0042	3	426	0.0070	c.688 others(3): Show c.688G>A	p.Val others(6): Show p.Val230Met	ANKS4B	ENSG00000175311.7	transcript	ENST00000311620.7	protein_coding	2/2	727/4323	688/1254	230/417	chr16	TogoVar
ANKS4B_chr16_21228699_21258850	21250786	A A	G G	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0042 a0004c0011t0042	a0004c0011t0042g0193 a0004c0011t0042g0193	1	426	0.0024	c.122 others(4): Show c.1220A>G	p.Gln others(6): Show p.Gln407Arg	ANKS4B	ENSG00000175311.7	transcript	ENST00000311620.7	protein_coding	2/2	1259/4323	1220/1254	407/417	chr16	TogoVar
ANKS6_chr9_98727009_98801555	98736542	G G	A A	missense_variant missense_variant	MODERATE	NA18941.hp2 NA18954.hp2 NA18978.hp2 NA18941.hp2 NA18954.hp2 NA18978.hp2	a0006 a0006	a0006c0010 a0006c0014 a0006c0010 a0006c0014	a0006c0010t0003 a0006c0014t0003 a0006c0010t0003 a0006c0014t0003	a0006c0010t0003g0016 a0006c0014t0003g0086 a0006c0010t0003g0016 a0006c0014t0003g0086	3	348	0.0086	c.259 others(4): Show c.2593C>T	p.Pro others(6): Show p.Pro865Ser	ANKS6	ENSG00000165138.18	transcript	ENST00000353234.5	protein_coding	15/15	2657/7190	2593/2616	865/871	chr9	TogoVar
ANKS6_chr9_98727009_98801555	98756543	G G	C C	missense_variant missense_variant	MODERATE	HG02922.hp1 HG03453.hp1 HG03486.hp1 HG02922.hp1 HG03453.hp1 HG03486.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0014 a0005c0009t0034 a0005c0009t0014 a0005c0009t0034	a0005c0009t0014g0018 a0005c0009t0034g0096 a0005c0009t0014g0018 a0005c0009t0034g0096	3	348	0.0086	c.220 others(4): Show c.2203C>G	p.Pro others(6): Show p.Pro735Ala	ANKS6	ENSG00000165138.18	transcript	ENST00000353234.5	protein_coding	12/15	2267/7190	2203/2616	735/871	chr9	TogoVar
ANKS6_chr9_98727009_98801555	98770938	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(274): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18984.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19084.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 others(5): Show a0001 a0005 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0018 a0005c0009 a0007c0011 a0008c0012 a0009c0013 a0010c0019 a0011c0017 a0012c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0035 a0001c0002t0002 a0001c0002t0008 a0001c0002t0016 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0016 a0001c0003t0029 a0001c0003t0036 a0001c0008t0001 a0001c0008t0022 a0001c0018t0002 a0005c0009t0014 a0005c0009t0034 a0007c0011t0015 a0008c0012t0009 a0009c0013t0004 a0010c0019t0008 a0011c0017t0002 a0012c0016t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(226): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0148 a0001c0001t0002g0173 a0001c0001t0002g0203 a0001c0001t0002g0215 a0001c0001t0004g0008 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0005g0022 a0001c0001t0005g0103 a0001c0001t0005g0115 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0006g0028 a0001c0001t0007g0125 a0001c0001t0007g0126 a0001c0001t0007g0127 a0001c0001t0007g0128 a0001c0001t0007g0180 a0001c0001t0009g0021 a0001c0001t0009g0116 a0001c0001t0012g0039 a0001c0001t0012g0040 a0001c0001t0012g0092 a0001c0001t0013g0207 a0001c0001t0013g0208 a0001c0001t0013g0209 a0001c0001t0017g0100 a0001c0001t0018g0198 a0001c0001t0019g0169 a0001c0001t0020g0206 a0001c0001t0021g0194 a0001c0001t0023g0101 a0001c0001t0024g0110 a0001c0001t0028g0095 a0001c0001t0035g0287 a0001c0002t0002g0002 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0252 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0008g0264 a0001c0002t0008g0269 a0001c0002t0008g0276 a0001c0002t0016g0265 a0001c0002t0025g0253 a0001c0002t0026g0263 a0001c0002t0027g0266 a0001c0003t0001g0243 a0001c0003t0001g0245 a0001c0003t0001g0246 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0249 a0001c0003t0001g0250 a0001c0003t0002g0001 a0001c0003t0002g0009 a0001c0003t0002g0032 a0001c0003t0002g0216 a0001c0003t0002g0219 a0001c0003t0002g0220 a0001c0003t0002g0222 a0001c0003t0002g0223 a0001c0003t0002g0224 a0001c0003t0002g0225 a0001c0003t0002g0226 a0001c0003t0002g0227 a0001c0003t0002g0228 a0001c0003t0002g0230 a0001c0003t0002g0231 a0001c0003t0002g0232 a0001c0003t0002g0233 a0001c0003t0002g0234 a0001c0003t0002g0235 a0001c0003t0002g0236 a0001c0003t0002g0237 a0001c0003t0002g0238 a0001c0003t0002g0242 a0001c0003t0002g0244 a0001c0003t0002g0251 a0001c0003t0006g0033 a0001c0003t0006g0239 a0001c0003t0006g0240 a0001c0003t0016g0241 a0001c0003t0029g0229 a0001c0003t0036g0288 a0001c0008t0001g0046 a0001c0008t0001g0048 a0001c0008t0001g0049 a0001c0008t0022g0047 a0001c0018t0002g0218 a0005c0009t0014g0018 a0005c0009t0034g0096 a0007c0011t0015g0042 a0007c0011t0015g0043 a0008c0012t0009g0038 a0009c0013t0004g0210 a0010c0019t0008g0273 a0011c0017t0002g0221 a0012c0016t0002g0217	277	348	0.7960	c.193 others(4): Show c.1930G>A	p.Val others(6): Show p.Val644Ile	ANKS6	ENSG00000165138.18	transcript	ENST00000353234.5	protein_coding	10/15	1994/7190	1930/2616	644/871	chr9	TogoVar
ANKS6_chr9_98727009_98801555	98770988	T T	C C	missense_variant missense_variant	MODERATE	HG00738.hp2 HG00738.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0008 a0010c0019t0008	a0010c0019t0008g0273 a0010c0019t0008g0273	1	348	0.0029	c.188 others(4): Show c.1880A>G	p.Asn others(6): Show p.Asn627Ser	ANKS6	ENSG00000165138.18	transcript	ENST00000353234.5	protein_coding	10/15	1944/7190	1880/2616	627/871	chr9	TogoVar
ANKS6_chr9_98727009_98801555	98773878	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02280.hp1 HG02280.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0004 a0009c0013t0004	a0009c0013t0004g0210 a0009c0013t0004g0210	1	348	0.0029	c.182 others(4): Show c.1820C>T	p.Thr others(6): Show p.Thr607Ile	ANKS6	ENSG00000165138.18	transcript	ENST00000353234.5	protein_coding	9/15	1884/7190	1820/2616	607/871	chr9	TogoVar
ANKS6_chr9_98727009_98801555	98774008	G G	T T	missense_variant missense_variant	MODERATE	NA19077.hp2 NA19077.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0002 a0011c0017t0002	a0011c0017t0002g0221 a0011c0017t0002g0221	1	348	0.0029	c.169 others(4): Show c.1690C>A	p.Pro others(6): Show p.Pro564Thr	ANKS6	ENSG00000165138.18	transcript	ENST00000353234.5	protein_coding	9/15	1754/7190	1690/2616	564/871	chr9	TogoVar
ANKS6_chr9_98727009_98801555	98780247	G G	A A	missense_variant missense_variant	MODERATE	HG01081.hp1 HG03579.hp2 HG01081.hp1 HG03579.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0015 a0007c0011t0015	a0007c0011t0015g0042 a0007c0011t0015g0043 a0007c0011t0015g0042 a0007c0011t0015g0043	2	348	0.0058	c.131 others(4): Show c.1310C>T	p.Ser others(6): Show p.Ser437Leu	ANKS6	ENSG00000165138.18	transcript	ENST00000353234.5	protein_coding	6/15	1374/7190	1310/2616	437/871	chr9	TogoVar
ANKS6_chr9_98727009_98801555	98784128	C C	T T	missense_variant missense_variant	MODERATE	HG00438.hp1 NA18979.hp2 NA19006.hp1 others(1): Show HG00438.hp1 NA18979.hp2 NA19006.hp1 NA19007.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0012 a0003c0006t0003g0057 a0003c0006t0003g0089 a0003c0006t0003g0012 a0003c0006t0003g0057 a0003c0006t0003g0089	4	348	0.0115	c.937 others(3): Show c.937G>A	p.Asp others(6): Show p.Asp313Asn	ANKS6	ENSG00000165138.18	transcript	ENST00000353234.5	protein_coding	4/15	1001/7190	937/2616	313/871	chr9	TogoVar
ANKS6_chr9_98727009_98801555	98790302	G G	A A	missense_variant missense_variant	MODERATE	HG00597.hp1 HG02055.hp2 NA18951.hp1 others(1): Show HG00597.hp1 HG02055.hp2 NA18951.hp1 NA18991.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0010 a0004c0007t0010	a0004c0007t0010g0283 a0004c0007t0010g0284 a0004c0007t0010g0285 others(1): Show a0004c0007t0010g0283 a0004c0007t0010g0284 a0004c0007t0010g0285 a0004c0007t0010g0286	4	348	0.0115	c.664 others(3): Show c.664C>T	p.Arg others(6): Show p.Arg222Trp	ANKS6	ENSG00000165138.18	transcript	ENST00000353234.5	protein_coding	2/15	728/7190	664/2616	222/871	chr9	TogoVar
ANKS6_chr9_98727009_98801555	98790467	C C	T T	missense_variant missense_variant	MODERATE	NA19064.hp1 NA19064.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0002 a0012c0016t0002	a0012c0016t0002g0217 a0012c0016t0002g0217	1	348	0.0029	c.499 others(3): Show c.499G>A	p.Gly others(6): Show p.Gly167Ser	ANKS6	ENSG00000165138.18	transcript	ENST00000353234.5	protein_coding	2/15	563/7190	499/2616	167/871	chr9	TogoVar
ANKS6_chr9_98727009_98801555	98796211	A A	G G	missense_variant missense_variant	MODERATE	HG02976.hp1 HG02976.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0009 a0008c0012t0009	a0008c0012t0009g0038 a0008c0012t0009g0038	1	348	0.0029	c.281 others(3): Show c.281T>C	p.Val others(5): Show p.Val94Ala	ANKS6	ENSG00000165138.18	transcript	ENST00000353234.5	protein_coding	1/15	345/7190	281/2616	94/871	chr9	TogoVar
ANKUB1_chr3_149756100_149797554	149761530	C C	T T	missense_variant missense_variant	MODERATE	HG01169.hp1 HG01169.hp1	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0004 a0013c0023t0004	a0013c0023t0004g0176 a0013c0023t0004g0176	1	372	0.0027	c.158 others(4): Show c.1589G>A	p.Arg others(6): Show p.Arg530Gln	ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding	6/6	1777/2207	1589/1635	530/544	chr3	TogoVar
ANKUB1_chr3_149756100_149797554	149767173	A A	G G	missense_variant missense_variant	MODERATE	HG01109.hp1 HG02055.hp2 HG03516.hp1 others(1): Show HG01109.hp1 HG02055.hp2 HG03516.hp1 NA21309.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0004 a0005c0009t0001 a0005c0009t0004	a0005c0009t0001g0047 a0005c0009t0001g0198 a0005c0009t0001g0242 others(1): Show a0005c0009t0001g0047 a0005c0009t0001g0198 a0005c0009t0001g0242 a0005c0009t0004g0199	4	372	0.0108	c.148 others(4): Show c.1489T>C	p.Cys others(6): Show p.Cys497Arg	ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding	5/6	1677/2207	1489/1635	497/544	chr3	TogoVar
ANKUB1_chr3_149756100_149797554	149767293	C C	T T	missense_variant missense_variant	MODERATE	HG03710.hp1 HG03710.hp1	a0010 a0010	a0010c0027 a0010c0027	a0010c0027t0001 a0010c0027t0001	a0010c0027t0001g0262 a0010c0027t0001g0262	1	372	0.0027	c.136 others(4): Show c.1369G>A	p.Val others(6): Show p.Val457Met	ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding	5/6	1557/2207	1369/1635	457/544	chr3	TogoVar
ANKUB1_chr3_149756100_149797554	149767317	C C	T T	missense_variant missense_variant	MODERATE	NA18962.hp2 NA18962.hp2	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0078 a0012c0021t0001g0078	1	372	0.0027	c.134 others(4): Show c.1345G>A	p.Val others(6): Show p.Val449Ile	ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding	5/6	1533/2207	1345/1635	449/544	chr3	TogoVar
ANKUB1_chr3_149756100_149797554	149767425	C C	A A	missense_variant missense_variant	MODERATE	NA19079.hp1 NA19079.hp1	a0014 a0014	a0014c0026 a0014c0026	a0014c0026t0001 a0014c0026t0001	a0014c0026t0001g0233 a0014c0026t0001g0233	1	372	0.0027	c.123 others(4): Show c.1237G>T	p.Ala others(6): Show p.Ala413Ser	ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding	5/6	1425/2207	1237/1635	413/544	chr3	TogoVar
ANKUB1_chr3_149756100_149797554	149767506	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp2 HG00544.hp2 others(87): Show HG00099.hp2 HG00140.hp2 HG00544.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG02027.hp1 HG02027.hp2 HG02080.hp1 HG02132.hp1 HG02145.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02698.hp2 HG02738.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18943.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18973.hp1 NA18980.hp2 NA18984.hp1 NA18987.hp1 NA18988.hp2 NA18990.hp1 NA18999.hp2 NA19030.hp1 NA19030.hp2 NA19065.hp2 NA19072.hp1 NA19072.hp2 NA19076.hp2 NA19081.hp2 NA20129.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0002 a0008 a0010 others(1): Show a0002 a0008 a0010 a0017	a0002c0002 a0002c0005 a0002c0013 others(3): Show a0002c0002 a0002c0005 a0002c0013 a0008c0028 a0010c0027 a0017c0029	a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0005t0007 a0002c0005t0008 a0002c0013t0001 a0008c0028t0002 a0010c0027t0001 a0017c0029t0001	a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0026 others(59): Show a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0026 a0002c0002t0001g0030 a0002c0002t0001g0034 a0002c0002t0001g0065 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0082 a0002c0002t0001g0097 a0002c0002t0001g0111 a0002c0002t0001g0124 a0002c0002t0001g0133 a0002c0002t0001g0138 a0002c0002t0001g0145 a0002c0002t0001g0160 a0002c0002t0001g0194 a0002c0002t0001g0210 a0002c0002t0001g0214 a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0234 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0269 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0037 a0002c0002t0002g0274 a0002c0002t0002g0286 a0002c0002t0002g0291 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0299 a0002c0002t0002g0308 a0002c0005t0001g0001 a0002c0005t0001g0018 a0002c0005t0001g0019 a0002c0005t0001g0028 a0002c0005t0001g0033 a0002c0005t0001g0099 a0002c0005t0001g0168 a0002c0005t0001g0169 a0002c0005t0001g0187 a0002c0005t0001g0190 a0002c0005t0001g0200 a0002c0005t0001g0249 a0002c0005t0001g0263 a0002c0005t0001g0267 a0002c0005t0001g0268 a0002c0005t0007g0039 a0002c0005t0008g0309 a0002c0005t0008g0310 a0002c0013t0001g0066 a0002c0013t0001g0137 a0008c0028t0002g0294 a0010c0027t0001g0262 a0017c0029t0001g0264	90	372	0.2419	c.115 others(4): Show c.1156A>G	p.Ser others(6): Show p.Ser386Gly	ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding	5/6	1344/2207	1156/1635	386/544	chr3	TogoVar
ANKUB1_chr3_149756100_149797554	149767707	A A	G G	missense_variant missense_variant	MODERATE	NA18983.hp2 NA18983.hp2	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0001 a0009c0020t0001	a0009c0020t0001g0146 a0009c0020t0001g0146	1	372	0.0027	c.955 others(3): Show c.955T>C	p.Trp others(6): Show p.Trp319Arg	ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding	5/6	1143/2207	955/1635	319/544	chr3	TogoVar
ANKUB1_chr3_149756100_149797554	149767744	A A	C C	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00621.hp1 HG00738.hp1 others(23): Show HG00558.hp2 HG00621.hp1 HG00738.hp1 HG01069.hp1 HG02015.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02523.hp2 HG02809.hp2 HG02976.hp1 NA18522.hp1 NA18942.hp2 NA18948.hp1 NA18966.hp2 NA18967.hp1 NA18980.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp2	a0003 a0003	a0003c0006 a0003c0011 a0003c0019 a0003c0006 a0003c0011 a0003c0019	a0003c0006t0001 a0003c0006t0002 a0003c0011t0001 others(1): Show a0003c0006t0001 a0003c0006t0002 a0003c0011t0001 a0003c0019t0001	a0003c0006t0001g0050 a0003c0006t0001g0055 a0003c0006t0001g0056 others(23): Show a0003c0006t0001g0050 a0003c0006t0001g0055 a0003c0006t0001g0056 a0003c0006t0001g0057 a0003c0006t0001g0058 a0003c0006t0001g0059 a0003c0006t0001g0061 a0003c0006t0001g0062 a0003c0006t0001g0119 a0003c0006t0001g0120 a0003c0006t0001g0122 a0003c0006t0001g0136 a0003c0006t0001g0167 a0003c0006t0001g0192 a0003c0006t0001g0203 a0003c0006t0001g0221 a0003c0006t0001g0225 a0003c0006t0001g0237 a0003c0006t0001g0239 a0003c0006t0001g0258 a0003c0006t0002g0290 a0003c0006t0002g0293 a0003c0011t0001g0179 a0003c0011t0001g0180 a0003c0011t0001g0251 a0003c0019t0001g0191	26	372	0.0699	c.918 others(3): Show c.918T>G	p.Ile others(6): Show p.Ile306Met	ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding	5/6	1106/2207	918/1635	306/544	chr3	TogoVar
ANKUB1_chr3_149756100_149797554	149767793	A A	G G	missense_variant missense_variant	MODERATE	HG01099.hp1 HG01256.hp2 HG01099.hp1 HG01256.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0139 a0007c0012t0001g0140 a0007c0012t0001g0139 a0007c0012t0001g0140	2	372	0.0054	c.869 others(3): Show c.869T>C	p.Val others(6): Show p.Val290Ala	ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding	5/6	1057/2207	869/1635	290/544	chr3	TogoVar
ANKUB1_chr3_149756100_149797554	149767794	C C	T T	missense_variant missense_variant	MODERATE	HG01243.hp1 HG02109.hp2 HG02970.hp2 others(4): Show HG01243.hp1 HG02109.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03471.hp1 HG06807.hp2	a0004 a0004	a0004c0008 a0004c0018 a0004c0008 a0004c0018	a0004c0008t0001 a0004c0008t0004 a0004c0018t0001 a0004c0008t0001 a0004c0008t0004 a0004c0018t0001	a0004c0008t0001g0129 a0004c0008t0004g0128 a0004c0008t0004g0164 others(4): Show a0004c0008t0001g0129 a0004c0008t0004g0128 a0004c0008t0004g0164 a0004c0008t0004g0170 a0004c0008t0004g0209 a0004c0008t0004g0245 a0004c0018t0001g0257	7	372	0.0188	c.868 others(3): Show c.868G>A	p.Val others(6): Show p.Val290Ile	ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding	5/6	1056/2207	868/1635	290/544	chr3	TogoVar
ANKUB1_chr3_149756100_149797554	149768013	G G	A A	missense_variant missense_variant	MODERATE	NA18906.hp1 NA18906.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0001 a0015c0015t0001	a0015c0015t0001g0049 a0015c0015t0001g0049	1	372	0.0027	c.649 others(3): Show c.649C>T	p.Arg others(6): Show p.Arg217Trp	ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding	5/6	837/2207	649/1635	217/544	chr3	TogoVar
ANKUB1_chr3_149756100_149797554	149768048	A A	G G	missense_variant missense_variant	MODERATE	HG02896.hp2 HG03041.hp2 HG03139.hp2 HG02896.hp2 HG03041.hp2 HG03139.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0012 a0006c0010t0001g0266 a0006c0010t0001g0012 a0006c0010t0001g0266	3	372	0.0081	c.614 others(3): Show c.614T>C	p.Ile others(6): Show p.Ile205Thr	ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding	5/6	802/2207	614/1635	205/544	chr3	TogoVar
ANKUB1_chr3_149756100_149797554	149780280	A A	G G	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02622.hp2	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0001 a0016c0016t0001	a0016c0016t0001g0098 a0016c0016t0001g0098	1	372	0.0027	c.410 others(3): Show c.410T>C	p.Met others(6): Show p.Met137Thr	ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding	3/6	598/2207	410/1635	137/544	chr3	TogoVar
ANKUB1_chr3_149756100_149797554	149780310	T T	C C	missense_variant missense_variant	MODERATE	HG01255.hp2 HG01255.hp2	a0008 a0008	a0008c0028 a0008c0028	a0008c0028t0002 a0008c0028t0002	a0008c0028t0002g0294 a0008c0028t0002g0294	1	372	0.0027	c.380 others(3): Show c.380A>G	p.Tyr others(6): Show p.Tyr127Cys	ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding	3/6	568/2207	380/1635	127/544	chr3	TogoVar
ANKUB1_chr3_149756100_149797554	149790882	G G	A A	missense_variant missense_variant	MODERATE	HG03486.hp1 HG03486.hp1	a0017 a0017	a0017c0029 a0017c0029	a0017c0029t0001 a0017c0029t0001	a0017c0029t0001g0264 a0017c0029t0001g0264	1	372	0.0027	c.133 others(3): Show c.133C>T	p.Arg others(5): Show p.Arg45Trp	ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding	2/6	321/2207	133/1635	45/544	chr3	TogoVar
ANKZF1_chr2_219224806_219241679	219231956	A A	C C	missense_variant missense_variant	MODERATE	HG03654.hp1 HG03654.hp1	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0001 a0018c0023t0001	a0018c0023t0001g0022 a0018c0023t0001g0022	1	376	0.0027	c.177 others(3): Show c.177A>C	p.Arg others(5): Show p.Arg59Ser	ANKZF1	ENSG00000163516.14	transcript	ENST00000323348.10	protein_coding	3/14	302/2540	177/2181	59/726	chr2	TogoVar
ANKZF1_chr2_219224806_219241679	219232535	G G	C C	missense_variant missense_variant	MODERATE	HG00597.hp1 HG00609.hp1 HG00621.hp1 others(33): Show HG00597.hp1 HG00609.hp1 HG00621.hp1 HG02015.hp2 HG02040.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02809.hp1 HG02809.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03540.hp1 HG03669.hp1 HG03927.hp1 HG03927.hp2 HG06807.hp1 NA18940.hp2 NA18965.hp2 NA18966.hp1 NA18974.hp2 NA18982.hp1 NA18988.hp1 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA19004.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA19062.hp2 NA19066.hp1 NA19090.hp1	a0003 a0017 a0003 a0017	a0003c0003 a0003c0012 a0017c0013 a0003c0003 a0003c0012 a0017c0013	a0003c0003t0001 a0003c0012t0001 a0017c0013t0001 a0003c0003t0001 a0003c0012t0001 a0017c0013t0001	a0003c0003t0001g0002 a0003c0003t0001g0020 a0003c0012t0001g0002 others(1): Show a0003c0003t0001g0002 a0003c0003t0001g0020 a0003c0012t0001g0002 a0017c0013t0001g0002	36	376	0.0957	c.410 others(3): Show c.410G>C	p.Ser others(6): Show p.Ser137Thr	ANKZF1	ENSG00000163516.14	transcript	ENST00000323348.10	protein_coding	5/14	535/2540	410/2181	137/726	chr2	TogoVar
ANKZF1_chr2_219224806_219241679	219233429	A A	G G	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02145.hp2 HG02976.hp1 HG02109.hp2 HG02145.hp2 HG02976.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0006 a0006c0009t0001g0006	3	376	0.0080	c.815 others(3): Show c.815A>G	p.Tyr others(6): Show p.Tyr272Cys	ANKZF1	ENSG00000163516.14	transcript	ENST00000323348.10	protein_coding	7/14	940/2540	815/2181	272/726	chr2	TogoVar
ANKZF1_chr2_219224806_219241679	219233784	C C	T T	missense_variant missense_variant	MODERATE	HG00423.hp2 NA18946.hp2 NA18965.hp1 others(3): Show HG00423.hp2 NA18946.hp2 NA18965.hp1 NA18969.hp1 NA18977.hp2 NA19075.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0001 a0005c0005t0001g0001	6	376	0.0160	c.889 others(3): Show c.889C>T	p.Arg others(6): Show p.Arg297Cys	ANKZF1	ENSG00000163516.14	transcript	ENST00000323348.10	protein_coding	8/14	1014/2540	889/2181	297/726	chr2	TogoVar
ANKZF1_chr2_219224806_219241679	219234137	A A	C C	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0010 a0010	a0010c0021 a0010c0021	a0010c0021t0001 a0010c0021t0001	a0010c0021t0001g0001 a0010c0021t0001g0001	1	376	0.0027	c.105 others(4): Show c.1053A>C	p.Glu others(6): Show p.Glu351Asp	ANKZF1	ENSG00000163516.14	transcript	ENST00000323348.10	protein_coding	9/14	1178/2540	1053/2181	351/726	chr2	TogoVar
ANKZF1_chr2_219224806_219241679	219234142	C C	G G	missense_variant missense_variant	MODERATE	HG02698.hp2 HG02698.hp2	a0016 a0016	a0016c0020 a0016c0020	a0016c0020t0001 a0016c0020t0001	a0016c0020t0001g0001 a0016c0020t0001g0001	1	376	0.0027	c.105 others(4): Show c.1058C>G	p.Pro others(6): Show p.Pro353Arg	ANKZF1	ENSG00000163516.14	transcript	ENST00000323348.10	protein_coding	9/14	1183/2540	1058/2181	353/726	chr2	TogoVar
ANKZF1_chr2_219224806_219241679	219234187	C C	T T	missense_variant missense_variant	MODERATE	NA18990.hp2 NA18990.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0001 a0011c0019t0001g0001	1	376	0.0027	c.110 others(4): Show c.1103C>T	p.Thr others(6): Show p.Thr368Ile	ANKZF1	ENSG00000163516.14	transcript	ENST00000323348.10	protein_coding	9/14	1228/2540	1103/2181	368/726	chr2	TogoVar
ANKZF1_chr2_219224806_219241679	219235086	C C	T T	missense_variant missense_variant	MODERATE	NA20129.hp2 NA20129.hp2	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0001 a0015c0018t0001	a0015c0018t0001g0011 a0015c0018t0001g0011	1	376	0.0027	c.146 others(4): Show c.1465C>T	p.Pro others(6): Show p.Pro489Ser	ANKZF1	ENSG00000163516.14	transcript	ENST00000323348.10	protein_coding	10/14	1590/2540	1465/2181	489/726	chr2	TogoVar
ANKZF1_chr2_219224806_219241679	219235479	C C	G G	missense_variant missense_variant	MODERATE	HG01070.hp2 HG01106.hp1 HG01192.hp2 others(15): Show HG01070.hp2 HG01106.hp1 HG01192.hp2 HG01496.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02083.hp2 HG02148.hp2 HG02273.hp2 HG02293.hp2 NA18612.hp2 NA18943.hp2 NA18947.hp2 NA18950.hp2 NA18994.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	18	376	0.0479	c.169 others(4): Show c.1697C>G	p.Ser others(6): Show p.Ser566Cys	ANKZF1	ENSG00000163516.14	transcript	ENST00000323348.10	protein_coding	11/14	1822/2540	1697/2181	566/726	chr2	TogoVar
ANKZF1_chr2_219224806_219241679	219235487	C C	T T	missense_variant missense_variant	MODERATE	HG02523.hp1 NA19084.hp1 HG02523.hp1 NA19084.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0001 a0009c0010t0001g0001	2	376	0.0053	c.170 others(4): Show c.1705C>T	p.Arg others(6): Show p.Arg569Trp	ANKZF1	ENSG00000163516.14	transcript	ENST00000323348.10	protein_coding	11/14	1830/2540	1705/2181	569/726	chr2	TogoVar
ANKZF1_chr2_219224806_219241679	219235490	C C	T T	missense_variant missense_variant	MODERATE	HG03486.hp2 NA19030.hp2 NA19043.hp2 HG03486.hp2 NA19030.hp2 NA19043.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0001 a0008c0008t0001g0001	3	376	0.0080	c.170 others(4): Show c.1708C>T	p.Pro others(6): Show p.Pro570Ser	ANKZF1	ENSG00000163516.14	transcript	ENST00000323348.10	protein_coding	11/14	1833/2540	1708/2181	570/726	chr2	TogoVar
ANKZF1_chr2_219224806_219241679	219235536	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00741.hp1 HG01358.hp2 HG00140.hp1 HG00741.hp1 HG01358.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0001 a0007c0007t0001g0001	3	376	0.0080	c.175 others(4): Show c.1754G>A	p.Arg others(6): Show p.Arg585Gln	ANKZF1	ENSG00000163516.14	transcript	ENST00000323348.10	protein_coding	11/14	1879/2540	1754/2181	585/726	chr2	TogoVar
ANKZF1_chr2_219224806_219241679	219235541	T T	C C	missense_variant missense_variant	MODERATE	NA18994.hp2 NA18994.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0003 a0014c0014t0001g0003	1	376	0.0027	c.175 others(4): Show c.1759T>C	p.Phe others(6): Show p.Phe587Leu	ANKZF1	ENSG00000163516.14	transcript	ENST00000323348.10	protein_coding	11/14	1884/2540	1759/2181	587/726	chr2	TogoVar
ANKZF1_chr2_219224806_219241679	219235754	G G	A A	missense_variant missense_variant	MODERATE	HG03490.hp1 HG03490.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0002 a0012c0015t0002	a0012c0015t0002g0001 a0012c0015t0002g0001	1	376	0.0027	c.185 others(4): Show c.1850G>A	p.Arg others(6): Show p.Arg617Gln	ANKZF1	ENSG00000163516.14	transcript	ENST00000323348.10	protein_coding	12/14	1975/2540	1850/2181	617/726	chr2	TogoVar
ANKZF1_chr2_219224806_219241679	219235825	C C	T T	missense_variant missense_variant	MODERATE	HG02040.hp2 HG02040.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0001 a0013c0017t0001	a0013c0017t0001g0001 a0013c0017t0001g0001	1	376	0.0027	c.192 others(4): Show c.1921C>T	p.Arg others(6): Show p.Arg641Cys	ANKZF1	ENSG00000163516.14	transcript	ENST00000323348.10	protein_coding	12/14	2046/2540	1921/2181	641/726	chr2	TogoVar
ANKZF1_chr2_219224806_219241679	219236065	C C	T T	missense_variant missense_variant	MODERATE	HG00673.hp2 HG00741.hp2 HG01099.hp1 others(34): Show HG00673.hp2 HG00741.hp2 HG01099.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG02056.hp2 HG02258.hp1 HG02572.hp2 HG02698.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG03209.hp1 HG03225.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03942.hp2 NA18956.hp2 NA18977.hp1 NA19000.hp2 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19064.hp2 NA19070.hp2 NA19077.hp1 NA19083.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0014 a0002c0002t0001g0001 a0002c0002t0001g0014	37	376	0.0984	c.202 others(4): Show c.2027C>T	p.Pro others(6): Show p.Pro676Leu	ANKZF1	ENSG00000163516.14	transcript	ENST00000323348.10	protein_coding	13/14	2152/2540	2027/2181	676/726	chr2	TogoVar
ANLN_chr7_36384862_36458791	36396347	A A	G G	missense_variant missense_variant	MODERATE	HG01192.hp2 HG02055.hp1 HG02559.hp2 others(1): Show HG01192.hp2 HG02055.hp1 HG02559.hp2 HG02965.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0348 a0006c0008t0002g0349 a0006c0008t0002g0383 others(1): Show a0006c0008t0002g0348 a0006c0008t0002g0349 a0006c0008t0002g0383 a0006c0008t0002g0384	4	408	0.0098	c.100 others(3): Show c.100A>G	p.Met others(5): Show p.Met34Val	ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	2/24	265/4731	100/3375	34/1124	chr7	TogoVar

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