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
ANKAR_chr2_189669670_189751647	189696307	T T	C C	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0016 a0016	a0016c0012 a0016c0012	a0016c0012t0001 a0016c0012t0001	a0016c0012t0001g0067 a0016c0012t0001g0067	1	296	0.0034	c.164 others(4): Show c.1646T>C	p.Ile others(6): Show p.Ile549Thr	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	7/23	1842/4521	1646/4305	549/1434	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189696334	A A	G G	missense_variant missense_variant	MODERATE	HG01261.hp2 HG02109.hp2 HG02135.hp1 others(15): Show HG01261.hp2 HG02109.hp2 HG02135.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02630.hp1 HG02886.hp1 HG02970.hp1 HG02976.hp2 HG03453.hp1 HG03490.hp1 HG03831.hp1 HG03834.hp1 NA18939.hp2 NA19000.hp1 NA19030.hp1 NA19080.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0003c0010 a0004c0006 others(1): Show a0003c0003 a0003c0010 a0004c0006 a0004c0009	a0003c0003t0001 a0003c0010t0001 a0004c0006t0001 others(1): Show a0003c0003t0001 a0003c0010t0001 a0004c0006t0001 a0004c0009t0001	a0003c0003t0001g0279 a0003c0003t0001g0282 a0003c0003t0001g0283 others(15): Show a0003c0003t0001g0279 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0290 a0003c0003t0001g0291 a0003c0003t0001g0293 a0003c0003t0001g0294 a0003c0003t0001g0295 a0003c0010t0001g0280 a0003c0010t0001g0281 a0004c0006t0001g0285 a0004c0006t0001g0286 a0004c0006t0001g0289 a0004c0006t0001g0292 a0004c0006t0001g0296 a0004c0009t0001g0284 a0004c0009t0001g0287 a0004c0009t0001g0288	18	296	0.0608	c.167 others(4): Show c.1673A>G	p.Lys others(6): Show p.Lys558Arg	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	7/23	1869/4521	1673/4305	558/1434	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189707050	A A	G G	missense_variant missense_variant	MODERATE	HG03491.hp2 HG03710.hp1 HG03942.hp1 others(8): Show HG03491.hp2 HG03710.hp1 HG03942.hp1 HG04115.hp1 NA18939.hp1 NA18951.hp1 NA18983.hp2 NA19074.hp1 NA19079.hp2 NA19081.hp1 NA21309.hp2	a0002 a0016 a0002 a0016	a0002c0002 a0016c0012 a0002c0002 a0016c0012	a0002c0002t0001 a0016c0012t0001 a0002c0002t0001 a0016c0012t0001	a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 others(8): Show a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0016c0012t0001g0067	11	296	0.0372	c.202 others(4): Show c.2023A>G	p.Ile others(6): Show p.Ile675Val	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	9/23	2219/4521	2023/4305	675/1434	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189707071	A A	G G	missense_variant missense_variant	MODERATE	HG02622.hp1 HG02622.hp1	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0001 a0010c0020t0001	a0010c0020t0001g0229 a0010c0020t0001g0229	1	296	0.0034	c.204 others(4): Show c.2044A>G	p.Thr others(6): Show p.Thr682Ala	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	9/23	2240/4521	2044/4305	682/1434	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189707104	A A	G G	missense_variant missense_variant	MODERATE	NA19068.hp2 NA19068.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0113 a0011c0019t0001g0113	1	296	0.0034	c.207 others(4): Show c.2077A>G	p.Lys others(6): Show p.Lys693Glu	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	9/23	2273/4521	2077/4305	693/1434	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189719674	T T	C C	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02145.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0157 a0012c0013t0001g0157	1	296	0.0034	c.232 others(4): Show c.2327T>C	p.Val others(6): Show p.Val776Ala	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	11/23	2523/4521	2327/4305	776/1434	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189730532	G G	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(287): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 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 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018	a0001c0001 a0001c0007 a0001c0008 others(20): Show a0001c0001 a0001c0007 a0001c0008 a0001c0015 a0001c0018 a0002c0002 a0003c0003 a0003c0010 a0004c0006 a0004c0009 a0005c0005 a0007c0011 a0008c0024 a0009c0021 a0010c0020 a0011c0019 a0012c0013 a0013c0014 a0014c0017 a0015c0016 a0016c0012 a0017c0022 a0018c0023	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0001c0007t0003 a0001c0008t0001 a0001c0015t0001 a0001c0018t0001 a0002c0002t0001 a0003c0003t0001 a0003c0010t0001 a0004c0006t0001 a0004c0009t0001 a0005c0005t0001 a0007c0011t0001 a0008c0024t0001 a0009c0021t0001 a0010c0020t0001 a0011c0019t0001 a0012c0013t0001 a0013c0014t0001 a0014c0017t0001 a0015c0016t0001 a0016c0012t0001 a0017c0022t0001 a0018c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(287): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0007t0001g0227 a0001c0007t0001g0228 a0001c0007t0001g0259 a0001c0007t0003g0266 a0001c0008t0001g0115 a0001c0008t0001g0116 a0001c0008t0001g0117 a0001c0008t0001g0118 a0001c0015t0001g0077 a0001c0018t0001g0039 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0003c0003t0001g0279 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0290 a0003c0003t0001g0291 a0003c0003t0001g0293 a0003c0003t0001g0294 a0003c0003t0001g0295 a0003c0010t0001g0280 a0003c0010t0001g0281 a0004c0006t0001g0285 a0004c0006t0001g0286 a0004c0006t0001g0289 a0004c0006t0001g0292 a0004c0006t0001g0296 a0004c0009t0001g0284 a0004c0009t0001g0287 a0004c0009t0001g0288 a0005c0005t0001g0194 a0005c0005t0001g0195 a0005c0005t0001g0196 a0005c0005t0001g0197 a0005c0005t0001g0198 a0005c0005t0001g0199 a0007c0011t0001g0161 a0007c0011t0001g0162 a0008c0024t0001g0268 a0009c0021t0001g0223 a0010c0020t0001g0229 a0011c0019t0001g0113 a0012c0013t0001g0157 a0013c0014t0001g0049 a0014c0017t0001g0048 a0015c0016t0001g0184 a0016c0012t0001g0067 a0017c0022t0001g0006 a0018c0023t0001g0091	290	296	0.9797	c.323 others(4): Show c.3231G>T	p.Leu others(7): Show p.Leu1077Phe	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	16/23	3427/4521	3231/4305	1077/1434	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189730558	T T	G G	missense_variant missense_variant	MODERATE	HG02970.hp2 HG02970.hp2	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0049 a0013c0014t0001g0049	1	296	0.0034	c.325 others(4): Show c.3257T>G	p.Val others(7): Show p.Val1086Gly	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	16/23	3453/4521	3257/4305	1086/1434	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189741426	A A	C C	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02257.hp2	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0001 a0014c0017t0001	a0014c0017t0001g0048 a0014c0017t0001g0048	1	296	0.0034	c.378 others(4): Show c.3785A>C	p.Tyr others(7): Show p.Tyr1262Ser	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	20/23	3981/4521	3785/4305	1262/1434	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189743279	G G	A A	missense_variant missense_variant	MODERATE	HG01243.hp2 HG01243.hp2	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0001 a0015c0016t0001	a0015c0016t0001g0184 a0015c0016t0001g0184	1	296	0.0034	c.381 others(4): Show c.3815G>A	p.Arg others(7): Show p.Arg1272His	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	21/23	4011/4521	3815/4305	1272/1434	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189746409	A A	G G	missense_variant missense_variant	MODERATE	HG02970.hp2 HG02970.hp2	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0049 a0013c0014t0001g0049	1	296	0.0034	c.408 others(4): Show c.4087A>G	p.Lys others(7): Show p.Lys1363Glu	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	23/23	4283/4521	4087/4305	1363/1434	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189746578	A A	T T	missense_variant missense_variant	MODERATE	HG01069.hp1 HG02055.hp2 HG03225.hp1 others(3): Show HG01069.hp1 HG02055.hp2 HG03225.hp1 HG03471.hp1 NA19030.hp2 NA20300.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0194 a0005c0005t0001g0195 a0005c0005t0001g0196 others(3): Show a0005c0005t0001g0194 a0005c0005t0001g0195 a0005c0005t0001g0196 a0005c0005t0001g0197 a0005c0005t0001g0198 a0005c0005t0001g0199	6	296	0.0203	c.425 others(4): Show c.4256A>T	p.Gln others(7): Show p.Gln1419Leu	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	23/23	4452/4521	4256/4305	1419/1434	chr2	TogoVar
ANKDD1A_chr15_64906902_64963691	64915833	G G	A A	missense_variant missense_variant	MODERATE	HG03195.hp1 HG03195.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0244 a0006c0012t0001g0244	1	338	0.0030	c.71G others(2): Show c.71G>A	p.Arg others(5): Show p.Arg24His	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	2/15	100/3101	71/1569	24/522	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64917506	C C	T T	missense_variant missense_variant	MODERATE	HG02056.hp1 NA18948.hp1 NA18949.hp1 others(2): Show HG02056.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18956.hp1	a0003 a0003	a0003c0008 a0003c0011 a0003c0008 a0003c0011	a0003c0008t0001 a0003c0011t0001 a0003c0008t0001 a0003c0011t0001	a0003c0008t0001g0064 a0003c0008t0001g0103 a0003c0008t0001g0136 others(2): Show a0003c0008t0001g0064 a0003c0008t0001g0103 a0003c0008t0001g0136 a0003c0011t0001g0074 a0003c0011t0001g0076	5	338	0.0148	c.259 others(3): Show c.259C>T	p.Arg others(5): Show p.Arg87Cys	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	3/15	288/3101	259/1569	87/522	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64922011	G G	C C	missense_variant missense_variant	MODERATE	HG02486.hp2 HG02486.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0002 a0010c0014t0002	a0010c0014t0002g0266 a0010c0014t0002g0266	1	338	0.0030	c.358 others(3): Show c.358G>C	p.Glu others(6): Show p.Glu120Gln	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	4/15	387/3101	358/1569	120/522	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64926121	C C	T T	missense_variant missense_variant	MODERATE	HG02615.hp2 HG02630.hp1 HG03486.hp1 HG02615.hp2 HG02630.hp1 HG03486.hp1	a0005 a0009 a0005 a0009	a0005c0010 a0009c0021 a0005c0010 a0009c0021	a0005c0010t0002 a0009c0021t0004 a0005c0010t0002 a0009c0021t0004	a0005c0010t0002g0204 a0005c0010t0002g0210 a0009c0021t0004g0220 a0005c0010t0002g0204 a0005c0010t0002g0210 a0009c0021t0004g0220	3	338	0.0089	c.422 others(3): Show c.422C>T	p.Ala others(6): Show p.Ala141Val	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	5/15	451/3101	422/1569	141/522	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64930831	A A	G G	missense_variant missense_variant	MODERATE	HG02056.hp2 HG02056.hp2	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0001 a0007c0020t0001	a0007c0020t0001g0129 a0007c0020t0001g0129	1	338	0.0030	c.580 others(3): Show c.580A>G	p.Thr others(6): Show p.Thr194Ala	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	7/15	609/3101	580/1569	194/522	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64934143	T T	A A	missense_variant missense_variant	MODERATE	HG01109.hp1 HG02922.hp2 HG03486.hp2 HG01109.hp1 HG02922.hp2 HG03486.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0034 a0004c0007t0003g0240 a0004c0007t0003g0262 a0004c0007t0003g0034 a0004c0007t0003g0240 a0004c0007t0003g0262	3	338	0.0089	c.776 others(3): Show c.776T>A	p.Leu others(6): Show p.Leu259Gln	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	9/15	805/3101	776/1569	259/522	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64943580	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(68): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01943.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02109.hp1 HG02155.hp2 HG02258.hp2 HG02293.hp2 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG03130.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA18951.hp1 NA18957.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18968.hp2 NA18972.hp2 NA18980.hp1 NA18990.hp1 NA18999.hp2 NA19003.hp1 NA19010.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0002c0005 a0002c0006 others(2): Show a0002c0003 a0002c0005 a0002c0006 a0002c0016 a0005c0010	a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 others(4): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0002c0005t0002 a0002c0006t0007 a0002c0016t0002 a0005c0010t0002	a0002c0003t0001g0189 a0002c0003t0001g0190 a0002c0003t0002g0019 others(66): Show a0002c0003t0001g0189 a0002c0003t0001g0190 a0002c0003t0002g0019 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0028 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0045 a0002c0003t0002g0081 a0002c0003t0002g0108 a0002c0003t0002g0109 a0002c0003t0002g0111 a0002c0003t0002g0115 a0002c0003t0002g0122 a0002c0003t0002g0145 a0002c0003t0002g0148 a0002c0003t0002g0165 a0002c0003t0002g0167 a0002c0003t0002g0183 a0002c0003t0002g0184 a0002c0003t0002g0188 a0002c0003t0002g0202 a0002c0003t0002g0203 a0002c0003t0002g0212 a0002c0003t0002g0213 a0002c0003t0002g0214 a0002c0003t0002g0224 a0002c0003t0002g0234 a0002c0003t0002g0236 a0002c0003t0002g0249 a0002c0003t0002g0253 a0002c0003t0002g0254 a0002c0003t0002g0257 a0002c0003t0002g0273 a0002c0003t0002g0274 a0002c0003t0002g0280 a0002c0003t0002g0284 a0002c0003t0002g0286 a0002c0003t0002g0287 a0002c0003t0002g0288 a0002c0003t0002g0289 a0002c0003t0002g0290 a0002c0003t0002g0293 a0002c0003t0002g0294 a0002c0003t0002g0297 a0002c0003t0002g0298 a0002c0003t0002g0299 a0002c0003t0002g0302 a0002c0003t0002g0303 a0002c0003t0002g0304 a0002c0003t0002g0306 a0002c0003t0002g0311 a0002c0003t0002g0313 a0002c0003t0002g0315 a0002c0003t0006g0166 a0002c0005t0002g0005 a0002c0005t0002g0216 a0002c0005t0002g0217 a0002c0005t0002g0219 a0002c0005t0002g0225 a0002c0005t0002g0230 a0002c0006t0007g0007 a0002c0006t0007g0131 a0002c0006t0007g0168 a0002c0006t0007g0169 a0002c0016t0002g0263 a0005c0010t0002g0204 a0005c0010t0002g0210	71	338	0.2101	c.106 others(4): Show c.1063A>G	p.Lys others(6): Show p.Lys355Glu	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	11/15	1092/3101	1063/1569	355/522	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64947456	G G	A A	missense_variant missense_variant	MODERATE	HG03516.hp2 HG03516.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0265 a0008c0019t0001g0265	1	338	0.0030	c.121 others(4): Show c.1214G>A	p.Arg others(6): Show p.Arg405Gln	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	13/15	1243/3101	1214/1569	405/522	chr15	TogoVar
ANKDD1B_chr5_75606453_75676846	75611640	C C	G G	missense_variant missense_variant	MODERATE	HG02723.hp1 HG03471.hp1 NA19240.hp2 HG02723.hp1 HG03471.hp1 NA19240.hp2	a0026 a0027 a0028 a0026 a0027 a0028	a0026c0037 a0027c0038 a0028c0039 a0026c0037 a0027c0038 a0028c0039	a0026c0037t0003 a0027c0038t0004 a0028c0039t0004 a0026c0037t0003 a0027c0038t0004 a0028c0039t0004	a0026c0037t0003g0153 a0027c0038t0004g0247 a0028c0039t0004g0248 a0026c0037t0003g0153 a0027c0038t0004g0247 a0028c0039t0004g0248	3	372	0.0081	c.6C> others(1): Show c.6C>G	p.Asp others(4): Show p.Asp2Glu	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	1/14	188/2575	6/1587	2/528	chr5	TogoVar
ANKDD1B_chr5_75606453_75676846	75611644	G G	A A	missense_variant missense_variant	MODERATE	HG00642.hp2 HG01192.hp2 HG01261.hp2 others(10): Show HG00642.hp2 HG01192.hp2 HG01261.hp2 HG02258.hp1 HG02630.hp1 HG02630.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03516.hp1 HG03540.hp2 NA19240.hp1 NA21309.hp2	a0007 a0024 a0025 a0007 a0024 a0025	a0007c0007 a0024c0020 a0025c0021 a0007c0007 a0024c0020 a0025c0021	a0007c0007t0006 a0007c0007t0012 a0007c0007t0013 others(3): Show a0007c0007t0006 a0007c0007t0012 a0007c0007t0013 a0007c0007t0014 a0024c0020t0014 a0025c0021t0022	a0007c0007t0006g0004 a0007c0007t0006g0156 a0007c0007t0006g0255 others(7): Show a0007c0007t0006g0004 a0007c0007t0006g0156 a0007c0007t0006g0255 a0007c0007t0006g0257 a0007c0007t0012g0256 a0007c0007t0013g0038 a0007c0007t0013g0039 a0007c0007t0014g0155 a0024c0020t0014g0254 a0025c0021t0022g0258	13	372	0.0350	c.10G others(2): Show c.10G>A	p.Ala others(4): Show p.Ala4Thr	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	1/14	192/2575	10/1587	4/528	chr5	TogoVar
ANKDD1B_chr5_75606453_75676846	75611678	G G	A A	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp1 HG01123.hp2 others(29): Show HG01069.hp1 HG01071.hp1 HG01123.hp2 HG01358.hp2 HG01516.hp2 HG02602.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG03486.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18942.hp2 NA18948.hp2 NA18962.hp1 NA18968.hp2 NA18971.hp1 NA18975.hp2 NA18985.hp1 NA19002.hp1 NA19009.hp1 NA19058.hp2 NA19060.hp1 NA19070.hp1 NA19074.hp1 NA19078.hp2 NA20905.hp2	a0005 a0012 a0017 others(1): Show a0005 a0012 a0017 a0018	a0005c0004 a0012c0013 a0017c0023 others(1): Show a0005c0004 a0012c0013 a0017c0023 a0018c0022	a0005c0004t0003 a0005c0004t0004 a0005c0004t0015 others(3): Show a0005c0004t0003 a0005c0004t0004 a0005c0004t0015 a0012c0013t0003 a0017c0023t0019 a0018c0022t0001	a0005c0004t0003g0005 a0005c0004t0003g0019 a0005c0004t0003g0077 others(25): Show a0005c0004t0003g0005 a0005c0004t0003g0019 a0005c0004t0003g0077 a0005c0004t0003g0078 a0005c0004t0003g0079 a0005c0004t0003g0080 a0005c0004t0003g0081 a0005c0004t0003g0082 a0005c0004t0003g0177 a0005c0004t0003g0178 a0005c0004t0003g0180 a0005c0004t0003g0181 a0005c0004t0003g0182 a0005c0004t0003g0183 a0005c0004t0003g0184 a0005c0004t0003g0186 a0005c0004t0003g0187 a0005c0004t0003g0189 a0005c0004t0003g0191 a0005c0004t0003g0192 a0005c0004t0003g0193 a0005c0004t0004g0185 a0005c0004t0015g0188 a0012c0013t0003g0018 a0012c0013t0003g0176 a0012c0013t0003g0179 a0017c0023t0019g0190 a0018c0022t0001g0083	32	372	0.0860	c.44G others(2): Show c.44G>A	p.Gly others(5): Show p.Gly15Glu	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	1/14	226/2575	44/1587	15/528	chr5	TogoVar
ANKDD1B_chr5_75606453_75676846	75611813	C C	A A	missense_variant missense_variant	MODERATE	HG01243.hp1 HG02818.hp1 HG02896.hp1 others(3): Show HG01243.hp1 HG02818.hp1 HG02896.hp1 HG03486.hp1 HG03540.hp1 NA18906.hp1	a0014 a0015 a0016 a0014 a0015 a0016	a0014c0017 a0015c0025 a0015c0026 others(1): Show a0014c0017 a0015c0025 a0015c0026 a0016c0018	a0014c0017t0004 a0015c0025t0007 a0015c0026t0004 others(1): Show a0014c0017t0004 a0015c0025t0007 a0015c0026t0004 a0016c0018t0003	a0014c0017t0004g0244 a0014c0017t0004g0245 a0015c0025t0007g0252 others(3): Show a0014c0017t0004g0244 a0014c0017t0004g0245 a0015c0025t0007g0252 a0015c0026t0004g0253 a0016c0018t0003g0250 a0016c0018t0003g0251	6	372	0.0161	c.179 others(3): Show c.179C>A	p.Ala others(5): Show p.Ala60Asp	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	1/14	361/2575	179/1587	60/528	chr5	TogoVar
ANKDD1B_chr5_75606453_75676846	75620396	G G	A A	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02572.hp1	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0004 a0019c0027t0004	a0019c0027t0004g0204 a0019c0027t0004g0204	1	372	0.0027	c.379 others(3): Show c.379G>A	p.Val others(6): Show p.Val127Met	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	3/14	561/2575	379/1587	127/528	chr5	TogoVar
ANKDD1B_chr5_75606453_75676846	75625861	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00438.hp1 HG00544.hp2 others(150): Show HG00140.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01256.hp1 HG01257.hp1 HG01358.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19059.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA20905.hp2	a0002 a0005 a0008 others(11): Show a0002 a0005 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0017 a0018 a0020 a0021 a0026	a0002c0002 a0002c0028 a0002c0029 others(14): Show a0002c0002 a0002c0028 a0002c0029 a0002c0036 a0005c0004 a0008c0008 a0009c0010 a0010c0011 a0011c0012 a0012c0013 a0013c0024 a0014c0017 a0017c0023 a0018c0022 a0020c0030 a0021c0031 a0026c0037	a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 others(20): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0010 a0002c0002t0016 a0002c0028t0002 a0002c0029t0004 a0002c0036t0003 a0005c0004t0003 a0005c0004t0004 a0005c0004t0015 a0008c0008t0004 a0009c0010t0009 a0010c0011t0001 a0011c0012t0004 a0012c0013t0003 a0013c0024t0003 a0014c0017t0004 a0017c0023t0019 a0018c0022t0001 a0020c0030t0007 a0021c0031t0001 a0026c0037t0003	a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0006 others(131): Show a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0294 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0321 a0002c0002t0002g0322 a0002c0002t0002g0324 a0002c0002t0002g0328 a0002c0002t0003g0076 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0172 a0002c0002t0003g0175 a0002c0002t0003g0262 a0002c0002t0003g0263 a0002c0002t0003g0264 a0002c0002t0003g0266 a0002c0002t0004g0157 a0002c0002t0004g0173 a0002c0002t0010g0024 a0002c0002t0010g0292 a0002c0002t0010g0297 a0002c0002t0010g0319 a0002c0002t0010g0320 a0002c0002t0016g0171 a0002c0028t0002g0323 a0002c0029t0004g0272 a0002c0036t0003g0298 a0005c0004t0003g0005 a0005c0004t0003g0019 a0005c0004t0003g0077 a0005c0004t0003g0078 a0005c0004t0003g0079 a0005c0004t0003g0080 a0005c0004t0003g0081 a0005c0004t0003g0082 a0005c0004t0003g0177 a0005c0004t0003g0178 a0005c0004t0003g0180 a0005c0004t0003g0181 a0005c0004t0003g0182 a0005c0004t0003g0183 a0005c0004t0003g0184 a0005c0004t0003g0186 a0005c0004t0003g0187 a0005c0004t0003g0189 a0005c0004t0003g0191 a0005c0004t0003g0192 a0005c0004t0003g0193 a0005c0004t0004g0185 a0005c0004t0015g0188 a0008c0008t0004g0016 a0008c0008t0004g0161 a0008c0008t0004g0162 a0008c0008t0004g0165 a0008c0008t0004g0166 a0008c0008t0004g0167 a0008c0008t0004g0168 a0008c0008t0004g0169 a0008c0008t0004g0170 a0009c0010t0009g0008 a0009c0010t0009g0040 a0009c0010t0009g0041 a0009c0010t0009g0042 a0009c0010t0009g0043 a0010c0011t0001g0158 a0010c0011t0001g0164 a0010c0011t0001g0194 a0010c0011t0001g0265 a0010c0011t0001g0293 a0011c0012t0004g0299 a0011c0012t0004g0300 a0011c0012t0004g0301 a0011c0012t0004g0302 a0011c0012t0004g0303 a0012c0013t0003g0018 a0012c0013t0003g0176 a0012c0013t0003g0179 a0013c0024t0003g0316 a0014c0017t0004g0244 a0014c0017t0004g0245 a0017c0023t0019g0190 a0018c0022t0001g0083 a0020c0030t0007g0163 a0021c0031t0001g0159 a0026c0037t0003g0153	153	372	0.4113	c.506 others(3): Show c.506G>A	p.Ser others(6): Show p.Ser169Asn	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	5/14	688/2575	506/1587	169/528	chr5	TogoVar
ANKDD1B_chr5_75606453_75676846	75625902	G G	A A	missense_variant missense_variant	MODERATE	HG01192.hp2 HG01192.hp2	a0024 a0024	a0024c0020 a0024c0020	a0024c0020t0014 a0024c0020t0014	a0024c0020t0014g0254 a0024c0020t0014g0254	1	372	0.0027	c.547 others(3): Show c.547G>A	p.Val others(6): Show p.Val183Met	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	5/14	729/2575	547/1587	183/528	chr5	TogoVar
ANKDD1B_chr5_75606453_75676846	75635818	A A	G G	missense_variant missense_variant	MODERATE	HG00735.hp1 HG01081.hp2 HG01884.hp1 others(10): Show HG00735.hp1 HG01081.hp2 HG01884.hp1 HG01891.hp2 HG02257.hp2 HG02258.hp2 HG02572.hp2 HG02647.hp2 HG02896.hp1 HG02970.hp2 HG03041.hp1 HG03453.hp1 NA18906.hp1	a0008 a0014 a0021 a0008 a0014 a0021	a0008c0008 a0014c0017 a0021c0031 a0008c0008 a0014c0017 a0021c0031	a0008c0008t0004 a0014c0017t0004 a0021c0031t0001 a0008c0008t0004 a0014c0017t0004 a0021c0031t0001	a0008c0008t0004g0016 a0008c0008t0004g0161 a0008c0008t0004g0162 others(9): Show a0008c0008t0004g0016 a0008c0008t0004g0161 a0008c0008t0004g0162 a0008c0008t0004g0165 a0008c0008t0004g0166 a0008c0008t0004g0167 a0008c0008t0004g0168 a0008c0008t0004g0169 a0008c0008t0004g0170 a0014c0017t0004g0244 a0014c0017t0004g0245 a0021c0031t0001g0159	13	372	0.0350	c.734 others(3): Show c.734A>G	p.His others(6): Show p.His245Arg	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	7/14	916/2575	734/1587	245/528	chr5	TogoVar
ANKDD1B_chr5_75606453_75676846	75635857	G G	T T	missense_variant missense_variant	MODERATE	HG00741.hp1 HG01106.hp2 HG01167.hp2 others(12): Show HG00741.hp1 HG01106.hp2 HG01167.hp2 HG01243.hp1 HG02109.hp2 HG02486.hp2 HG02615.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03486.hp1 NA18522.hp1 NA18522.hp2	a0006 a0015 a0020 a0006 a0015 a0020	a0006c0009 a0006c0015 a0006c0034 others(3): Show a0006c0009 a0006c0015 a0006c0034 a0015c0025 a0015c0026 a0020c0030	a0006c0009t0007 a0006c0015t0001 a0006c0034t0003 others(3): Show a0006c0009t0007 a0006c0015t0001 a0006c0034t0003 a0015c0025t0007 a0015c0026t0004 a0020c0030t0007	a0006c0009t0007g0141 a0006c0009t0007g0207 a0006c0009t0007g0209 others(11): Show a0006c0009t0007g0141 a0006c0009t0007g0207 a0006c0009t0007g0209 a0006c0009t0007g0210 a0006c0009t0007g0211 a0006c0009t0007g0212 a0006c0009t0007g0213 a0006c0009t0007g0214 a0006c0015t0001g0020 a0006c0015t0001g0208 a0006c0034t0003g0215 a0015c0025t0007g0252 a0015c0026t0004g0253 a0020c0030t0007g0163	15	372	0.0403	c.773 others(3): Show c.773G>T	p.Trp others(6): Show p.Trp258Leu	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	7/14	955/2575	773/1587	258/528	chr5	TogoVar
ANKDD1B_chr5_75606453_75676846	75653177	C C	G G	missense_variant missense_variant	MODERATE	NA18522.hp2 NA18522.hp2	a0006 a0006	a0006c0034 a0006c0034	a0006c0034t0003 a0006c0034t0003	a0006c0034t0003g0215 a0006c0034t0003g0215	1	372	0.0027	c.834 others(3): Show c.834C>G	p.Asn others(6): Show p.Asn278Lys	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	8/14	1016/2575	834/1587	278/528	chr5	TogoVar
ANKDD1B_chr5_75606453_75676846	75653218	T T	C C	missense_variant missense_variant	MODERATE	HG00735.hp1 HG01081.hp2 HG01884.hp1 others(18): Show HG00735.hp1 HG01081.hp2 HG01884.hp1 HG01891.hp2 HG02027.hp2 HG02056.hp1 HG02132.hp1 HG02135.hp2 HG02257.hp2 HG02258.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02896.hp1 HG02970.hp2 HG03041.hp1 HG03453.hp1 NA18906.hp1 NA18962.hp2 NA19063.hp1 NA20129.hp1	a0008 a0009 a0014 others(3): Show a0008 a0009 a0014 a0021 a0022 a0027	a0008c0008 a0009c0010 a0014c0017 others(3): Show a0008c0008 a0009c0010 a0014c0017 a0021c0031 a0022c0032 a0027c0038	a0008c0008t0004 a0009c0010t0009 a0014c0017t0004 others(3): Show a0008c0008t0004 a0009c0010t0009 a0014c0017t0004 a0021c0031t0001 a0022c0032t0012 a0027c0038t0004	a0008c0008t0004g0016 a0008c0008t0004g0161 a0008c0008t0004g0162 others(16): Show a0008c0008t0004g0016 a0008c0008t0004g0161 a0008c0008t0004g0162 a0008c0008t0004g0165 a0008c0008t0004g0166 a0008c0008t0004g0167 a0008c0008t0004g0168 a0008c0008t0004g0169 a0008c0008t0004g0170 a0009c0010t0009g0008 a0009c0010t0009g0040 a0009c0010t0009g0041 a0009c0010t0009g0042 a0009c0010t0009g0043 a0014c0017t0004g0244 a0014c0017t0004g0245 a0021c0031t0001g0159 a0022c0032t0012g0195 a0027c0038t0004g0247	21	372	0.0565	c.875 others(3): Show c.875T>C	p.Val others(6): Show p.Val292Ala	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	8/14	1057/2575	875/1587	292/528	chr5	TogoVar
ANKDD1B_chr5_75606453_75676846	75656085	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02109.hp2 HG02486.hp2 others(6): Show HG01167.hp2 HG02109.hp2 HG02486.hp2 HG02615.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03486.hp2	a0006 a0017 a0006 a0017	a0006c0009 a0017c0023 a0006c0009 a0017c0023	a0006c0009t0007 a0017c0023t0019 a0006c0009t0007 a0017c0023t0019	a0006c0009t0007g0141 a0006c0009t0007g0207 a0006c0009t0007g0209 others(6): Show a0006c0009t0007g0141 a0006c0009t0007g0207 a0006c0009t0007g0209 a0006c0009t0007g0210 a0006c0009t0007g0211 a0006c0009t0007g0212 a0006c0009t0007g0213 a0006c0009t0007g0214 a0017c0023t0019g0190	9	372	0.0242	c.954 others(3): Show c.954C>G	p.Asn others(6): Show p.Asn318Lys	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	9/14	1136/2575	954/1587	318/528	chr5	TogoVar
ANKDD1B_chr5_75606453_75676846	75663395	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00735.hp1 HG01109.hp2 HG01167.hp1 others(25): Show HG00735.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03453.hp1 HG03486.hp2 NA18906.hp1	a0006 a0008 a0011 others(4): Show a0006 a0008 a0011 a0014 a0017 a0023 a0027	a0006c0009 a0008c0008 a0011c0012 others(4): Show a0006c0009 a0008c0008 a0011c0012 a0014c0017 a0017c0023 a0023c0033 a0027c0038	a0006c0009t0007 a0008c0008t0004 a0011c0012t0004 others(4): Show a0006c0009t0007 a0008c0008t0004 a0011c0012t0004 a0014c0017t0004 a0017c0023t0019 a0023c0033t0006 a0027c0038t0004	a0006c0009t0007g0141 a0006c0009t0007g0207 a0006c0009t0007g0209 others(24): Show a0006c0009t0007g0141 a0006c0009t0007g0207 a0006c0009t0007g0209 a0006c0009t0007g0210 a0006c0009t0007g0211 a0006c0009t0007g0212 a0006c0009t0007g0213 a0006c0009t0007g0214 a0008c0008t0004g0016 a0008c0008t0004g0161 a0008c0008t0004g0162 a0008c0008t0004g0165 a0008c0008t0004g0166 a0008c0008t0004g0167 a0008c0008t0004g0168 a0008c0008t0004g0169 a0008c0008t0004g0170 a0011c0012t0004g0299 a0011c0012t0004g0300 a0011c0012t0004g0301 a0011c0012t0004g0302 a0011c0012t0004g0303 a0014c0017t0004g0244 a0014c0017t0004g0245 a0017c0023t0019g0190 a0023c0033t0006g0249 a0027c0038t0004g0247	28	372	0.0753	c.109 others(4): Show c.1097A>G	p.Gln others(6): Show p.Gln366Arg	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	11/14	1279/2575	1097/1587	366/528	chr5	TogoVar
ANKDD1B_chr5_75606453_75676846	75666943	C C	T T	missense_variant missense_variant	MODERATE	HG00423.hp1 HG00609.hp2 HG00621.hp1 others(50): Show HG00423.hp1 HG00609.hp2 HG00621.hp1 HG01069.hp1 HG01071.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG02027.hp1 HG02056.hp2 HG02080.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02886.hp1 HG03098.hp1 HG03453.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18944.hp1 NA18948.hp1 NA18950.hp1 NA18953.hp2 NA18959.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18985.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19056.hp1 NA19064.hp2 NA19075.hp1 NA19079.hp1 NA19080.hp1	a0003 a0012 a0003 a0012	a0003c0003 a0003c0014 a0012c0013 a0003c0003 a0003c0014 a0012c0013	a0003c0003t0003 a0003c0003t0005 a0003c0014t0003 others(1): Show a0003c0003t0003 a0003c0003t0005 a0003c0014t0003 a0012c0013t0003	a0003c0003t0003g0012 a0003c0003t0003g0036 a0003c0003t0003g0037 others(46): Show a0003c0003t0003g0012 a0003c0003t0003g0036 a0003c0003t0003g0037 a0003c0003t0003g0054 a0003c0003t0003g0066 a0003c0003t0003g0073 a0003c0003t0003g0089 a0003c0003t0003g0102 a0003c0003t0003g0117 a0003c0003t0003g0118 a0003c0003t0003g0151 a0003c0003t0003g0152 a0003c0003t0005g0017 a0003c0003t0005g0022 a0003c0003t0005g0142 a0003c0003t0005g0145 a0003c0003t0005g0147 a0003c0003t0005g0148 a0003c0003t0005g0149 a0003c0003t0005g0150 a0003c0003t0005g0174 a0003c0003t0005g0198 a0003c0003t0005g0222 a0003c0003t0005g0223 a0003c0003t0005g0224 a0003c0003t0005g0225 a0003c0003t0005g0226 a0003c0003t0005g0227 a0003c0003t0005g0228 a0003c0003t0005g0229 a0003c0003t0005g0230 a0003c0003t0005g0231 a0003c0003t0005g0232 a0003c0003t0005g0233 a0003c0003t0005g0234 a0003c0003t0005g0235 a0003c0003t0005g0236 a0003c0003t0005g0237 a0003c0003t0005g0238 a0003c0003t0005g0239 a0003c0003t0005g0240 a0003c0003t0005g0241 a0003c0003t0005g0242 a0003c0014t0003g0071 a0003c0014t0003g0131 a0003c0014t0003g0132 a0012c0013t0003g0018 a0012c0013t0003g0176 a0012c0013t0003g0179	53	372	0.1425	c.134 others(4): Show c.1343C>T	p.Ser others(6): Show p.Ser448Leu	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	12/14	1525/2575	1343/1587	448/528	chr5	TogoVar
ANKDD1B_chr5_75606453_75676846	75669341	C C	G G	missense_variant missense_variant	MODERATE	HG02027.hp2 HG02056.hp1 HG02132.hp1 others(3): Show HG02027.hp2 HG02056.hp1 HG02132.hp1 HG02135.hp2 NA18962.hp2 NA19063.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0009 a0009c0010t0009	a0009c0010t0009g0008 a0009c0010t0009g0040 a0009c0010t0009g0041 others(2): Show a0009c0010t0009g0008 a0009c0010t0009g0040 a0009c0010t0009g0041 a0009c0010t0009g0042 a0009c0010t0009g0043	6	372	0.0161	c.148 others(4): Show c.1483C>G	p.Leu others(6): Show p.Leu495Val	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	13/14	1665/2575	1483/1587	495/528	chr5	TogoVar
ANKEF1_chr20_10029987_10063303	10038521	C C	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG03471.hp2 NA18522.hp2 HG01884.hp1 HG03471.hp2 NA18522.hp2	a0005 a0015 a0005 a0015	a0005c0009 a0005c0013 a0015c0012 a0005c0009 a0005c0013 a0015c0012	a0005c0009t0042 a0005c0013t0054 a0015c0012t0074 a0005c0009t0042 a0005c0013t0054 a0015c0012t0074	a0005c0009t0042g0112 a0005c0013t0054g0069 a0015c0012t0074g0105 a0005c0009t0042g0112 a0005c0013t0054g0069 a0015c0012t0074g0105	3	392	0.0077	c.220 others(3): Show c.220C>A	p.Pro others(5): Show p.Pro74Thr	ANKEF1	ENSG00000132623.16	transcript	ENST00000378392.6	protein_coding	3/11	675/5429	220/2331	74/776	chr20	TogoVar
ANKEF1_chr20_10029987_10063303	10038528	T T	A A	missense_variant missense_variant	MODERATE	NA18987.hp2 NA18987.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0144 a0006c0014t0001g0144	1	392	0.0026	c.227 others(3): Show c.227T>A	p.Val others(5): Show p.Val76Glu	ANKEF1	ENSG00000132623.16	transcript	ENST00000378392.6	protein_coding	3/11	682/5429	227/2331	76/776	chr20	TogoVar
ANKEF1_chr20_10029987_10063303	10044421	G G	A A	missense_variant missense_variant	MODERATE	HG01175.hp2 HG01175.hp2	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0068 a0014c0015t0068	a0014c0015t0068g0003 a0014c0015t0068g0003	1	392	0.0026	c.574 others(3): Show c.574G>A	p.Ala others(6): Show p.Ala192Thr	ANKEF1	ENSG00000132623.16	transcript	ENST00000378392.6	protein_coding	5/11	1029/5429	574/2331	192/776	chr20	TogoVar
ANKEF1_chr20_10029987_10063303	10045578	T T	C C	missense_variant missense_variant	MODERATE	HG02602.hp1 HG02602.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0009 a0013c0016t0009	a0013c0016t0009g0040 a0013c0016t0009g0040	1	392	0.0026	c.701 others(3): Show c.701T>C	p.Leu others(6): Show p.Leu234Ser	ANKEF1	ENSG00000132623.16	transcript	ENST00000378392.6	protein_coding	6/11	1156/5429	701/2331	234/776	chr20	TogoVar
ANKEF1_chr20_10029987_10063303	10049536	C C	G G	missense_variant missense_variant	MODERATE	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0001 a0004c0008t0001g0001	2	392	0.0051	c.967 others(3): Show c.967C>G	p.Pro others(6): Show p.Pro323Ala	ANKEF1	ENSG00000132623.16	transcript	ENST00000378392.6	protein_coding	7/11	1422/5429	967/2331	323/776	chr20	TogoVar
ANKEF1_chr20_10029987_10063303	10049540	T T	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(49): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01256.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG02055.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03540.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA19240.hp1	a0002 a0012 a0014 a0002 a0012 a0014	a0002c0003 a0002c0007 a0002c0017 others(2): Show a0002c0003 a0002c0007 a0002c0017 a0012c0018 a0014c0015	a0002c0003t0006 a0002c0003t0011 a0002c0003t0018 others(14): Show a0002c0003t0006 a0002c0003t0011 a0002c0003t0018 a0002c0003t0019 a0002c0003t0023 a0002c0003t0035 a0002c0003t0038 a0002c0003t0045 a0002c0003t0067 a0002c0003t0070 a0002c0003t0071 a0002c0003t0072 a0002c0003t0073 a0002c0007t0018 a0002c0017t0011 a0012c0018t0069 a0014c0015t0068	a0002c0003t0006g0003 a0002c0003t0006g0021 a0002c0003t0006g0053 others(25): Show a0002c0003t0006g0003 a0002c0003t0006g0021 a0002c0003t0006g0053 a0002c0003t0006g0055 a0002c0003t0006g0059 a0002c0003t0006g0060 a0002c0003t0006g0061 a0002c0003t0006g0110 a0002c0003t0011g0003 a0002c0003t0011g0014 a0002c0003t0011g0054 a0002c0003t0018g0003 a0002c0003t0018g0057 a0002c0003t0019g0003 a0002c0003t0023g0003 a0002c0003t0035g0003 a0002c0003t0035g0062 a0002c0003t0038g0003 a0002c0003t0045g0115 a0002c0003t0067g0058 a0002c0003t0070g0021 a0002c0003t0071g0003 a0002c0003t0072g0014 a0002c0003t0073g0003 a0002c0007t0018g0022 a0002c0017t0011g0056 a0012c0018t0069g0066 a0014c0015t0068g0003	52	392	0.1327	c.971 others(3): Show c.971T>A	p.Leu others(6): Show p.Leu324Gln	ANKEF1	ENSG00000132623.16	transcript	ENST00000378392.6	protein_coding	7/11	1426/5429	971/2331	324/776	chr20	TogoVar
ANKEF1_chr20_10029987_10063303	10049704	G G	T T	missense_variant missense_variant	MODERATE	HG02698.hp1 HG02698.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0017 a0011c0022t0017	a0011c0022t0017g0039 a0011c0022t0017g0039	1	392	0.0026	c.113 others(4): Show c.1135G>T	p.Ala others(6): Show p.Ala379Ser	ANKEF1	ENSG00000132623.16	transcript	ENST00000378392.6	protein_coding	7/11	1590/5429	1135/2331	379/776	chr20	TogoVar
ANKEF1_chr20_10029987_10063303	10049758	A A	G G	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02145.hp2	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0051 a0007c0021t0051	a0007c0021t0051g0038 a0007c0021t0051g0038	1	392	0.0026	c.118 others(4): Show c.1189A>G	p.Lys others(6): Show p.Lys397Glu	ANKEF1	ENSG00000132623.16	transcript	ENST00000378392.6	protein_coding	7/11	1644/5429	1189/2331	397/776	chr20	TogoVar
ANKEF1_chr20_10029987_10063303	10049804	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(48): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01256.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG02055.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03540.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA19240.hp1	a0002 a0014 a0002 a0014	a0002c0003 a0002c0007 a0002c0017 others(1): Show a0002c0003 a0002c0007 a0002c0017 a0014c0015	a0002c0003t0006 a0002c0003t0011 a0002c0003t0018 others(13): Show a0002c0003t0006 a0002c0003t0011 a0002c0003t0018 a0002c0003t0019 a0002c0003t0023 a0002c0003t0035 a0002c0003t0038 a0002c0003t0045 a0002c0003t0067 a0002c0003t0070 a0002c0003t0071 a0002c0003t0072 a0002c0003t0073 a0002c0007t0018 a0002c0017t0011 a0014c0015t0068	a0002c0003t0006g0003 a0002c0003t0006g0021 a0002c0003t0006g0053 others(24): Show a0002c0003t0006g0003 a0002c0003t0006g0021 a0002c0003t0006g0053 a0002c0003t0006g0055 a0002c0003t0006g0059 a0002c0003t0006g0060 a0002c0003t0006g0061 a0002c0003t0006g0110 a0002c0003t0011g0003 a0002c0003t0011g0014 a0002c0003t0011g0054 a0002c0003t0018g0003 a0002c0003t0018g0057 a0002c0003t0019g0003 a0002c0003t0023g0003 a0002c0003t0035g0003 a0002c0003t0035g0062 a0002c0003t0038g0003 a0002c0003t0045g0115 a0002c0003t0067g0058 a0002c0003t0070g0021 a0002c0003t0071g0003 a0002c0003t0072g0014 a0002c0003t0073g0003 a0002c0007t0018g0022 a0002c0017t0011g0056 a0014c0015t0068g0003	51	392	0.1301	c.123 others(4): Show c.1235G>A	p.Gly others(6): Show p.Gly412Glu	ANKEF1	ENSG00000132623.16	transcript	ENST00000378392.6	protein_coding	7/11	1690/5429	1235/2331	412/776	chr20	TogoVar
ANKEF1_chr20_10029987_10063303	10049969	G G	A A	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18948.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0008 a0008c0010t0008	a0008c0010t0008g0097 a0008c0010t0008g0097	1	392	0.0026	c.140 others(4): Show c.1400G>A	p.Arg others(6): Show p.Arg467Gln	ANKEF1	ENSG00000132623.16	transcript	ENST00000378392.6	protein_coding	7/11	1855/5429	1400/2331	467/776	chr20	TogoVar
ANKEF1_chr20_10029987_10063303	10050128	T T	C C	missense_variant missense_variant	MODERATE	NA18522.hp2 NA18522.hp2	a0015 a0015	a0015c0012 a0015c0012	a0015c0012t0074 a0015c0012t0074	a0015c0012t0074g0105 a0015c0012t0074g0105	1	392	0.0026	c.155 others(4): Show c.1559T>C	p.Met others(6): Show p.Met520Thr	ANKEF1	ENSG00000132623.16	transcript	ENST00000378392.6	protein_coding	7/11	2014/5429	1559/2331	520/776	chr20	TogoVar
ANKEF1_chr20_10029987_10063303	10054492	A A	G G	missense_variant missense_variant	MODERATE	HG03225.hp2 HG03225.hp2	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0005 a0009c0020t0005	a0009c0020t0005g0134 a0009c0020t0005g0134	1	392	0.0026	c.206 others(4): Show c.2065A>G	p.Thr others(6): Show p.Thr689Ala	ANKEF1	ENSG00000132623.16	transcript	ENST00000378392.6	protein_coding	10/11	2520/5429	2065/2331	689/776	chr20	TogoVar
ANKEF1_chr20_10029987_10063303	10055503	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0050 a0010c0019t0050	a0010c0019t0050g0133 a0010c0019t0050g0133	1	392	0.0026	c.217 others(4): Show c.2174T>G	p.Ile others(6): Show p.Ile725Ser	ANKEF1	ENSG00000132623.16	transcript	ENST00000378392.6	protein_coding	11/11	2629/5429	2174/2331	725/776	chr20	TogoVar
ANKEF1_chr20_10029987_10063303	10055554	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG01069.hp1 HG01099.hp1 others(12): Show HG00140.hp1 HG01069.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01261.hp1 HG01361.hp1 HG02109.hp1 HG02300.hp2 HG03491.hp2 HG03492.hp2 NA19043.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0025 a0003c0004t0026 others(4): Show a0003c0004t0013 a0003c0004t0025 a0003c0004t0026 a0003c0004t0040 a0003c0004t0043 a0003c0004t0044 a0003c0004t0046	a0003c0004t0013g0006 a0003c0004t0013g0113 a0003c0004t0025g0032 others(5): Show a0003c0004t0013g0006 a0003c0004t0013g0113 a0003c0004t0025g0032 a0003c0004t0026g0006 a0003c0004t0040g0006 a0003c0004t0043g0042 a0003c0004t0044g0041 a0003c0004t0046g0043	15	392	0.0383	c.222 others(4): Show c.2225G>A	p.Arg others(6): Show p.Arg742Gln	ANKEF1	ENSG00000132623.16	transcript	ENST00000378392.6	protein_coding	11/11	2680/5429	2225/2331	742/776	chr20	TogoVar
ANKFN1_chr17_56148475_56522016	56227957	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0003 a0012c0015t0003	a0012c0015t0003g0008 a0012c0015t0003g0008	1	112	0.0089	c.53T others(2): Show c.53T>A	p.Ile others(5): Show p.Ile18Lys	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	3/21	179/9314	53/3441	18/1146	chr17	TogoVar

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