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
ABTB2_chr11_34145987_34363010	34154715	T T	C C	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02486.hp1 HG02615.hp1 others(10): Show HG02145.hp1 HG02486.hp1 HG02615.hp1 HG02723.hp2 HG02818.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03540.hp1 NA19043.hp2 NA21309.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0003c0008 a0004c0006 others(1): Show a0003c0003 a0003c0008 a0004c0006 a0004c0014	a0003c0003t0001 a0003c0003t0003 a0003c0003t0006 others(6): Show a0003c0003t0001 a0003c0003t0003 a0003c0003t0006 a0003c0003t0008 a0003c0003t0010 a0003c0008t0014 a0004c0006t0002 a0004c0006t0012 a0004c0014t0002	a0003c0003t0001g0096 a0003c0003t0001g0137 a0003c0003t0003g0179 others(10): Show a0003c0003t0001g0096 a0003c0003t0001g0137 a0003c0003t0003g0179 a0003c0003t0006g0094 a0003c0003t0008g0150 a0003c0003t0008g0155 a0003c0003t0010g0161 a0003c0003t0010g0165 a0003c0008t0014g0022 a0004c0006t0002g0229 a0004c0006t0012g0237 a0004c0006t0012g0244 a0004c0014t0002g0240	13	246	0.0529	c.275 others(4): Show c.2752A>G	p.Thr others(6): Show p.Thr918Ala	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	15/17	3179/4905	2752/3078	918/1025	chr11	TogoVar
ABTB2_chr11_34145987_34363010	34159303	A A	G G	missense_variant missense_variant	MODERATE	NA19056.hp1 NA19056.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0064 a0005c0011t0001g0064	1	246	0.0041	c.269 others(4): Show c.2690T>C	p.Ile others(6): Show p.Ile897Thr	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	14/17	3117/4905	2690/3078	897/1025	chr11	TogoVar
ABTB2_chr11_34145987_34363010	34356834	G G	C C	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00438.hp2 HG00609.hp2 others(55): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG01255.hp2 HG01358.hp1 HG01433.hp2 HG02080.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03195.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18952.hp2 NA18962.hp2 NA18966.hp2 NA18970.hp1 NA18972.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19010.hp1 NA19043.hp2 NA19055.hp2 NA19060.hp1 NA19067.hp1 NA19079.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0002 a0002c0013 a0002c0015 others(6): Show a0002c0002 a0002c0013 a0002c0015 a0002c0016 a0002c0017 a0002c0019 a0004c0006 a0004c0014 a0006c0018	a0002c0002t0002 a0002c0002t0011 a0002c0002t0013 others(11): Show a0002c0002t0002 a0002c0002t0011 a0002c0002t0013 a0002c0002t0025 a0002c0002t0026 a0002c0013t0002 a0002c0015t0024 a0002c0016t0002 a0002c0017t0028 a0002c0019t0027 a0004c0006t0002 a0004c0006t0012 a0004c0014t0002 a0006c0018t0002	a0002c0002t0002g0189 a0002c0002t0002g0191 a0002c0002t0002g0193 others(55): Show a0002c0002t0002g0189 a0002c0002t0002g0191 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0238 a0002c0002t0002g0242 a0002c0002t0011g0192 a0002c0002t0011g0241 a0002c0002t0013g0245 a0002c0002t0013g0246 a0002c0002t0025g0218 a0002c0002t0026g0243 a0002c0013t0002g0225 a0002c0015t0024g0239 a0002c0016t0002g0197 a0002c0017t0028g0222 a0002c0019t0027g0228 a0004c0006t0002g0229 a0004c0006t0012g0237 a0004c0006t0012g0244 a0004c0014t0002g0240 a0006c0018t0002g0190	58	246	0.2358	c.750 others(3): Show c.750C>G	p.His others(6): Show p.His250Gln	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/17	1177/4905	750/3078	250/1025	chr11	TogoVar
ABTB3_chr12_107313434_107664642	107319734	G G	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(57): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00609.hp1 HG00621.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01433.hp2 HG01496.hp2 HG01943.hp2 HG01978.hp2 HG02015.hp1 HG02074.hp1 HG02135.hp2 HG02155.hp1 HG02451.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03492.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04204.hp2 NA18747.hp1 NA18946.hp1 NA18946.hp2 NA18954.hp2 NA18964.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18989.hp1 NA18999.hp1 NA19002.hp1 NA19063.hp2 NA19065.hp2 NA19090.hp1 NA20300.hp1 NA20752.hp2	a0002 a0005 a0006 others(3): Show a0002 a0005 a0006 a0008 a0009 a0010	a0002c0002 a0002c0009 a0002c0015 others(10): Show a0002c0002 a0002c0009 a0002c0015 a0002c0018 a0002c0031 a0002c0033 a0005c0007 a0005c0016 a0006c0014 a0006c0032 a0008c0013 a0009c0034 a0010c0017	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(30): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0010 a0002c0002t0012 a0002c0002t0017 a0002c0002t0018 a0002c0002t0023 a0002c0002t0025 a0002c0002t0034 a0002c0002t0036 a0002c0002t0038 a0002c0009t0001 a0002c0009t0003 a0002c0009t0029 a0002c0015t0001 a0002c0015t0007 a0002c0018t0020 a0002c0031t0003 a0002c0033t0001 a0005c0007t0001 a0005c0007t0003 a0005c0007t0007 a0005c0007t0026 a0005c0016t0003 a0006c0014t0008 a0006c0014t0037 a0006c0032t0008 a0008c0013t0008 a0008c0013t0019 a0009c0034t0003 a0010c0017t0003	a0002c0002t0001g0060 a0002c0002t0001g0109 a0002c0002t0001g0117 others(57): Show a0002c0002t0001g0060 a0002c0002t0001g0109 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0128 a0002c0002t0003g0062 a0002c0002t0004g0059 a0002c0002t0004g0061 a0002c0002t0004g0110 a0002c0002t0004g0112 a0002c0002t0004g0114 a0002c0002t0004g0116 a0002c0002t0004g0127 a0002c0002t0007g0172 a0002c0002t0007g0174 a0002c0002t0007g0175 a0002c0002t0007g0176 a0002c0002t0007g0178 a0002c0002t0007g0179 a0002c0002t0007g0186 a0002c0002t0010g0173 a0002c0002t0010g0181 a0002c0002t0010g0182 a0002c0002t0012g0177 a0002c0002t0012g0180 a0002c0002t0017g0167 a0002c0002t0018g0183 a0002c0002t0023g0121 a0002c0002t0025g0164 a0002c0002t0034g0115 a0002c0002t0036g0170 a0002c0002t0038g0184 a0002c0009t0001g0067 a0002c0009t0003g0064 a0002c0009t0003g0065 a0002c0009t0003g0071 a0002c0009t0029g0069 a0002c0015t0001g0043 a0002c0015t0007g0166 a0002c0018t0020g0168 a0002c0031t0003g0066 a0002c0033t0001g0068 a0005c0007t0001g0122 a0005c0007t0003g0072 a0005c0007t0003g0113 a0005c0007t0003g0119 a0005c0007t0007g0169 a0005c0007t0026g0123 a0005c0016t0003g0063 a0005c0016t0003g0161 a0006c0014t0008g0126 a0006c0014t0037g0171 a0006c0032t0008g0160 a0008c0013t0008g0073 a0008c0013t0019g0185 a0009c0034t0003g0070 a0010c0017t0003g0111	60	186	0.3226	c.794 others(3): Show c.794G>C	p.Gly others(6): Show p.Gly265Ala	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/17	1301/5746	794/3315	265/1104	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107319884	C C	T T	missense_variant missense_variant	MODERATE	HG02809.hp2 NA18906.hp1 HG02809.hp2 NA18906.hp1	a0017 a0018 a0017 a0018	a0017c0028 a0018c0027 a0017c0028 a0018c0027	a0017c0028t0004 a0018c0027t0001 a0017c0028t0004 a0018c0027t0001	a0017c0028t0004g0044 a0018c0027t0001g0045 a0017c0028t0004g0044 a0018c0027t0001g0045	2	186	0.0108	c.944 others(3): Show c.944C>T	p.Ala others(6): Show p.Ala315Val	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/17	1451/5746	944/3315	315/1104	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107319919	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(57): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00609.hp1 HG00621.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01433.hp2 HG01496.hp2 HG01943.hp2 HG01978.hp2 HG02015.hp1 HG02074.hp1 HG02135.hp2 HG02155.hp1 HG02451.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03492.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04204.hp2 NA18747.hp1 NA18946.hp1 NA18946.hp2 NA18954.hp2 NA18964.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18989.hp1 NA18999.hp1 NA19002.hp1 NA19063.hp2 NA19065.hp2 NA19090.hp1 NA20300.hp1 NA20752.hp2	a0002 a0005 a0006 others(3): Show a0002 a0005 a0006 a0008 a0009 a0010	a0002c0002 a0002c0009 a0002c0015 others(10): Show a0002c0002 a0002c0009 a0002c0015 a0002c0018 a0002c0031 a0002c0033 a0005c0007 a0005c0016 a0006c0014 a0006c0032 a0008c0013 a0009c0034 a0010c0017	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(30): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0010 a0002c0002t0012 a0002c0002t0017 a0002c0002t0018 a0002c0002t0023 a0002c0002t0025 a0002c0002t0034 a0002c0002t0036 a0002c0002t0038 a0002c0009t0001 a0002c0009t0003 a0002c0009t0029 a0002c0015t0001 a0002c0015t0007 a0002c0018t0020 a0002c0031t0003 a0002c0033t0001 a0005c0007t0001 a0005c0007t0003 a0005c0007t0007 a0005c0007t0026 a0005c0016t0003 a0006c0014t0008 a0006c0014t0037 a0006c0032t0008 a0008c0013t0008 a0008c0013t0019 a0009c0034t0003 a0010c0017t0003	a0002c0002t0001g0060 a0002c0002t0001g0109 a0002c0002t0001g0117 others(57): Show a0002c0002t0001g0060 a0002c0002t0001g0109 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0128 a0002c0002t0003g0062 a0002c0002t0004g0059 a0002c0002t0004g0061 a0002c0002t0004g0110 a0002c0002t0004g0112 a0002c0002t0004g0114 a0002c0002t0004g0116 a0002c0002t0004g0127 a0002c0002t0007g0172 a0002c0002t0007g0174 a0002c0002t0007g0175 a0002c0002t0007g0176 a0002c0002t0007g0178 a0002c0002t0007g0179 a0002c0002t0007g0186 a0002c0002t0010g0173 a0002c0002t0010g0181 a0002c0002t0010g0182 a0002c0002t0012g0177 a0002c0002t0012g0180 a0002c0002t0017g0167 a0002c0002t0018g0183 a0002c0002t0023g0121 a0002c0002t0025g0164 a0002c0002t0034g0115 a0002c0002t0036g0170 a0002c0002t0038g0184 a0002c0009t0001g0067 a0002c0009t0003g0064 a0002c0009t0003g0065 a0002c0009t0003g0071 a0002c0009t0029g0069 a0002c0015t0001g0043 a0002c0015t0007g0166 a0002c0018t0020g0168 a0002c0031t0003g0066 a0002c0033t0001g0068 a0005c0007t0001g0122 a0005c0007t0003g0072 a0005c0007t0003g0113 a0005c0007t0003g0119 a0005c0007t0007g0169 a0005c0007t0026g0123 a0005c0016t0003g0063 a0005c0016t0003g0161 a0006c0014t0008g0126 a0006c0014t0037g0171 a0006c0032t0008g0160 a0008c0013t0008g0073 a0008c0013t0019g0185 a0009c0034t0003g0070 a0010c0017t0003g0111	60	186	0.3226	c.979 others(3): Show c.979G>A	p.Ala others(6): Show p.Ala327Thr	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/17	1486/5746	979/3315	327/1104	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107543991	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00423.hp1 HG00621.hp1 others(42): Show HG00280.hp2 HG00423.hp1 HG00621.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp1 HG02015.hp2 HG02056.hp2 HG02135.hp2 HG02257.hp1 HG02486.hp1 HG02615.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03225.hp1 HG03453.hp1 HG03492.hp2 HG03942.hp1 HG04204.hp2 NA18747.hp2 NA18942.hp2 NA18946.hp2 NA18954.hp2 NA18989.hp2 NA18999.hp1 NA19002.hp1 NA19063.hp1 NA19086.hp2 NA19087.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0003 a0005 a0007 others(4): Show a0003 a0005 a0007 a0008 a0010 a0016 a0018	a0003c0004 a0003c0006 a0003c0008 others(10): Show a0003c0004 a0003c0006 a0003c0008 a0003c0020 a0003c0021 a0003c0029 a0005c0007 a0005c0016 a0007c0010 a0008c0013 a0010c0017 a0016c0019 a0018c0027	a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 others(24): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0011 a0003c0004t0016 a0003c0004t0022 a0003c0006t0002 a0003c0006t0005 a0003c0008t0001 a0003c0008t0002 a0003c0008t0011 a0003c0020t0001 a0003c0021t0006 a0003c0029t0002 a0005c0007t0001 a0005c0007t0003 a0005c0007t0007 a0005c0007t0026 a0005c0016t0003 a0007c0010t0003 a0007c0010t0005 a0008c0013t0008 a0008c0013t0019 a0010c0017t0003 a0016c0019t0008 a0018c0027t0001	a0003c0004t0001g0022 a0003c0004t0001g0024 a0003c0004t0001g0040 others(42): Show a0003c0004t0001g0022 a0003c0004t0001g0024 a0003c0004t0001g0040 a0003c0004t0002g0076 a0003c0004t0003g0017 a0003c0004t0003g0035 a0003c0004t0003g0038 a0003c0004t0003g0165 a0003c0004t0004g0002 a0003c0004t0004g0003 a0003c0004t0011g0155 a0003c0004t0016g0005 a0003c0004t0022g0041 a0003c0006t0002g0129 a0003c0006t0002g0139 a0003c0006t0005g0130 a0003c0006t0005g0132 a0003c0006t0005g0137 a0003c0006t0005g0144 a0003c0006t0005g0149 a0003c0008t0001g0021 a0003c0008t0001g0049 a0003c0008t0001g0052 a0003c0008t0002g0087 a0003c0008t0002g0092 a0003c0008t0011g0153 a0003c0020t0001g0028 a0003c0021t0006g0151 a0003c0029t0002g0131 a0005c0007t0001g0122 a0005c0007t0003g0072 a0005c0007t0003g0113 a0005c0007t0003g0119 a0005c0007t0007g0169 a0005c0007t0026g0123 a0005c0016t0003g0063 a0005c0016t0003g0161 a0007c0010t0003g0162 a0007c0010t0005g0090 a0007c0010t0005g0150 a0008c0013t0008g0073 a0008c0013t0019g0185 a0010c0017t0003g0111 a0016c0019t0008g0020 a0018c0027t0001g0045	45	186	0.2419	c.134 others(4): Show c.1342G>A	p.Gly others(6): Show p.Gly448Ser	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	3/17	1849/5746	1342/3315	448/1104	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107544031	A A	T T	missense_variant missense_variant	MODERATE	NA19065.hp1 NA19065.hp1	a0011 a0011	a0011c0026 a0011c0026	a0011c0026t0001 a0011c0026t0001	a0011c0026t0001g0036 a0011c0026t0001g0036	1	186	0.0054	c.138 others(4): Show c.1382A>T	p.Tyr others(6): Show p.Tyr461Phe	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	3/17	1889/5746	1382/3315	461/1104	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107615106	C C	T T	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02109.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0002 a0012c0025t0002	a0012c0025t0002g0079 a0012c0025t0002g0079	1	186	0.0054	c.194 others(4): Show c.1945C>T	p.Arg others(6): Show p.Arg649Cys	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	7/17	2452/5746	1945/3315	649/1104	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107617358	C C	T T	missense_variant missense_variant	MODERATE	HG03834.hp2 HG03834.hp2	a0009 a0009	a0009c0034 a0009c0034	a0009c0034t0003 a0009c0034t0003	a0009c0034t0003g0070 a0009c0034t0003g0070	1	186	0.0054	c.215 others(4): Show c.2153C>T	p.Thr others(6): Show p.Thr718Ile	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	9/17	2660/5746	2153/3315	718/1104	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107617385	C C	T T	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0013 a0013	a0013c0024 a0013c0024	a0013c0024t0001 a0013c0024t0001	a0013c0024t0001g0019 a0013c0024t0001g0019	1	186	0.0054	c.218 others(4): Show c.2180C>T	p.Thr others(6): Show p.Thr727Ile	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	9/17	2687/5746	2180/3315	727/1104	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107642111	C C	G G	missense_variant missense_variant	MODERATE	NA18522.hp2 NA18522.hp2	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0006 a0014c0023t0006	a0014c0023t0006g0099 a0014c0023t0006g0099	1	186	0.0054	c.286 others(4): Show c.2862C>G	p.Ser others(6): Show p.Ser954Arg	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	14/17	3369/5746	2862/3315	954/1104	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107642116	C C	T T	missense_variant missense_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0003 a0010c0017t0003	a0010c0017t0003g0111 a0010c0017t0003g0111	1	186	0.0054	c.286 others(4): Show c.2867C>T	p.Pro others(6): Show p.Pro956Leu	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	14/17	3374/5746	2867/3315	956/1104	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107657533	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02486.hp1 HG02965.hp2 others(1): Show HG01884.hp2 HG02486.hp1 HG02965.hp2 HG03041.hp1	a0007 a0015 a0007 a0015	a0007c0010 a0015c0022 a0007c0010 a0015c0022	a0007c0010t0003 a0007c0010t0005 a0015c0022t0003 a0007c0010t0003 a0007c0010t0005 a0015c0022t0003	a0007c0010t0003g0162 a0007c0010t0005g0090 a0007c0010t0005g0150 others(1): Show a0007c0010t0003g0162 a0007c0010t0005g0090 a0007c0010t0005g0150 a0015c0022t0003g0048	4	186	0.0215	c.313 others(4): Show c.3130G>A	p.Ala others(7): Show p.Ala1044Thr	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	17/17	3637/5746	3130/3315	1044/1104	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107657629	G G	A A	missense_variant missense_variant	MODERATE	HG01169.hp2 HG01257.hp2 HG01361.hp2 others(15): Show HG01169.hp2 HG01257.hp2 HG01361.hp2 HG02055.hp1 HG02109.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02976.hp2 HG03225.hp2 HG03453.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG04204.hp2 NA19030.hp1	a0004 a0006 a0008 others(1): Show a0004 a0006 a0008 a0016	a0004c0005 a0006c0014 a0006c0032 others(2): Show a0004c0005 a0006c0014 a0006c0032 a0008c0013 a0016c0019	a0004c0005t0008 a0004c0005t0009 a0004c0005t0013 others(7): Show a0004c0005t0008 a0004c0005t0009 a0004c0005t0013 a0004c0005t0032 a0006c0014t0008 a0006c0014t0037 a0006c0032t0008 a0008c0013t0008 a0008c0013t0019 a0016c0019t0008	a0004c0005t0008g0007 a0004c0005t0008g0009 a0004c0005t0008g0012 others(15): Show a0004c0005t0008g0007 a0004c0005t0008g0009 a0004c0005t0008g0012 a0004c0005t0008g0053 a0004c0005t0009g0080 a0004c0005t0009g0094 a0004c0005t0009g0097 a0004c0005t0009g0103 a0004c0005t0009g0107 a0004c0005t0013g0018 a0004c0005t0013g0163 a0004c0005t0032g0091 a0006c0014t0008g0126 a0006c0014t0037g0171 a0006c0032t0008g0160 a0008c0013t0008g0073 a0008c0013t0019g0185 a0016c0019t0008g0020	18	186	0.0968	c.322 others(4): Show c.3226G>A	p.Gly others(7): Show p.Gly1076Ser	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	17/17	3733/5746	3226/3315	1076/1104	chr12	TogoVar
ACAA1_chr3_38117715_38142127	38125589	T T	C C	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00597.hp2 NA18612.hp1 others(3): Show HG00423.hp2 HG00597.hp2 NA18612.hp1 NA18979.hp1 NA18990.hp1 NA19081.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0017 a0004c0004t0001g0033 a0004c0004t0001g0017 a0004c0004t0001g0033	6	372	0.0161	c.117 others(4): Show c.1175A>G	p.Asn others(6): Show p.Asn392Ser	ACAA1	ENSG00000060971.19	transcript	ENST00000333167.13	protein_coding	11/12	1267/1699	1175/1275	392/424	chr3	TogoVar
ACAA1_chr3_38117715_38142127	38125604	A A	G G	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00733.hp1 HG01106.hp2 others(1): Show HG00140.hp2 HG00733.hp1 HG01106.hp2 HG01256.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0019 a0005c0005t0001g0062 a0005c0005t0001g0019 a0005c0005t0001g0062	4	372	0.0108	c.116 others(4): Show c.1160T>C	p.Val others(6): Show p.Val387Ala	ACAA1	ENSG00000060971.19	transcript	ENST00000333167.13	protein_coding	11/12	1252/1699	1160/1275	387/424	chr3	TogoVar
ACAA1_chr3_38117715_38142127	38126582	G G	A A	missense_variant missense_variant	MODERATE	NA19091.hp2 NA19091.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0066 a0008c0016t0001g0066	1	372	0.0027	c.745 others(3): Show c.745C>T	p.Arg others(6): Show p.Arg249Cys	ACAA1	ENSG00000060971.19	transcript	ENST00000333167.13	protein_coding	8/12	837/1699	745/1275	249/424	chr3	TogoVar
ACAA1_chr3_38117715_38142127	38126634	A A	C C	missense_variant missense_variant	MODERATE	HG00741.hp2 HG01361.hp1 HG02004.hp1 others(10): Show HG00741.hp2 HG01361.hp1 HG02004.hp1 HG02647.hp2 HG02738.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03540.hp2 HG04228.hp2 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0011 a0003c0003 a0003c0011	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(1): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0011t0002	a0003c0003t0001g0060 a0003c0003t0002g0013 a0003c0003t0002g0036 others(4): Show a0003c0003t0001g0060 a0003c0003t0002g0013 a0003c0003t0002g0036 a0003c0003t0002g0061 a0003c0003t0002g0087 a0003c0003t0003g0037 a0003c0011t0002g0088	13	372	0.0350	c.693 others(3): Show c.693T>G	p.His others(6): Show p.His231Gln	ACAA1	ENSG00000060971.19	transcript	ENST00000333167.13	protein_coding	8/12	785/1699	693/1275	231/424	chr3	TogoVar
ACAA1_chr3_38117715_38142127	38127810	G G	A A	missense_variant missense_variant	MODERATE	HG02300.hp2 HG02300.hp2	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0067 a0007c0017t0001g0067	1	372	0.0027	c.602 others(3): Show c.602C>T	p.Thr others(6): Show p.Thr201Ile	ACAA1	ENSG00000060971.19	transcript	ENST00000333167.13	protein_coding	7/12	694/1699	602/1275	201/424	chr3	TogoVar
ACAA1_chr3_38117715_38142127	38129319	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00323.hp1 HG00423.hp2 others(79): Show HG00099.hp2 HG00323.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00735.hp2 HG01069.hp1 HG01106.hp1 HG01346.hp1 HG01358.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02523.hp1 HG02602.hp2 HG03017.hp1 HG03239.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18950.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18965.hp1 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18997.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp2 NA19056.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19090.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0009 a0002 a0004 a0009	a0002c0002 a0002c0012 a0004c0004 others(1): Show a0002c0002 a0002c0012 a0004c0004 a0009c0018	a0002c0002t0001 a0002c0012t0001 a0004c0004t0001 others(1): Show a0002c0002t0001 a0002c0012t0001 a0004c0004t0001 a0009c0018t0001	a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0015 others(16): Show a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0027 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0045 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0012t0001g0076 a0004c0004t0001g0017 a0004c0004t0001g0033 a0009c0018t0001g0070	82	372	0.2204	c.516 others(3): Show c.516G>C	p.Glu others(6): Show p.Glu172Asp	ACAA1	ENSG00000060971.19	transcript	ENST00000333167.13	protein_coding	6/12	608/1699	516/1275	172/424	chr3	TogoVar
ACAA1_chr3_38117715_38142127	38129347	T T	C C	missense_variant missense_variant	MODERATE	NA18522.hp2 NA18522.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0070 a0009c0018t0001g0070	1	372	0.0027	c.488 others(3): Show c.488A>G	p.Asn others(6): Show p.Asn163Ser	ACAA1	ENSG00000060971.19	transcript	ENST00000333167.13	protein_coding	6/12	580/1699	488/1275	163/424	chr3	TogoVar
ACAA1_chr3_38117715_38142127	38136632	G G	C C	missense_variant missense_variant	MODERATE	HG03195.hp1 HG03195.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0086 a0010c0019t0001g0086	1	372	0.0027	c.225 others(3): Show c.225C>G	p.Asp others(5): Show p.Asp75Glu	ACAA1	ENSG00000060971.19	transcript	ENST00000333167.13	protein_coding	2/12	317/1699	225/1275	75/424	chr3	TogoVar
ACAA1_chr3_38117715_38142127	38137020	C C	A A	missense_variant missense_variant	MODERATE	HG03017.hp2 HG03017.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0089 a0006c0020t0001g0089	1	372	0.0027	c.16G others(2): Show c.16G>T	p.Val others(4): Show p.Val6Leu	ACAA1	ENSG00000060971.19	transcript	ENST00000333167.13	protein_coding	1/12	108/1699	16/1275	6/424	chr3	TogoVar
ACAA2_chr18_49777164_49818533	49783872	G G	A A	missense_variant missense_variant	MODERATE	NA18957.hp1 NA18957.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0084 a0006c0008t0002g0084	1	434	0.0023	c.116 others(4): Show c.1169C>T	p.Ala others(6): Show p.Ala390Val	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	10/10	1218/2926	1169/1194	390/397	chr18	TogoVar
ACAA2_chr18_49777164_49818533	49792256	T T	C C	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00621.hp1 HG00673.hp1 others(26): Show HG00438.hp2 HG00621.hp1 HG00673.hp1 HG01070.hp2 HG01255.hp2 HG01433.hp2 HG02040.hp1 HG02056.hp1 HG02165.hp2 HG02698.hp1 HG03017.hp1 NA18950.hp2 NA18954.hp2 NA18960.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19055.hp2 NA19075.hp2 NA19077.hp1 NA19082.hp2 NA19086.hp1 NA19091.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0037 a0002c0002t0001 a0002c0002t0004 a0002c0002t0037	a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 others(26): Show a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0099 a0002c0002t0001g0102 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0004g0103 a0002c0002t0004g0132 a0002c0002t0004g0138 a0002c0002t0037g0127	29	434	0.0668	c.649 others(3): Show c.649A>G	p.Met others(6): Show p.Met217Val	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	6/10	698/2926	649/1194	217/397	chr18	TogoVar
ACAA2_chr18_49777164_49818533	49792313	A A	T T	missense_variant missense_variant	MODERATE	HG03490.hp2 HG03491.hp1 HG03669.hp2 HG03490.hp2 HG03491.hp1 HG03669.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0010	a0003c0004t0010g0204 a0003c0004t0010g0205 a0003c0004t0010g0206 a0003c0004t0010g0204 a0003c0004t0010g0205 a0003c0004t0010g0206	3	434	0.0069	c.592 others(3): Show c.592T>A	p.Tyr others(6): Show p.Tyr198Asn	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	6/10	641/2926	592/1194	198/397	chr18	TogoVar
ACAA2_chr18_49777164_49818533	49795790	C C	T T	missense_variant missense_variant	MODERATE	HG02523.hp2 HG02523.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0009 a0005c0007t0009	a0005c0007t0009g0073 a0005c0007t0009g0073	1	434	0.0023	c.404 others(3): Show c.404G>A	p.Gly others(6): Show p.Gly135Glu	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	4/10	453/2926	404/1194	135/397	chr18	TogoVar
ACAA2_chr18_49777164_49818533	49802853	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0232 a0004c0005t0008g0232	1	434	0.0023	c.17G others(2): Show c.17G>A	p.Gly others(4): Show p.Gly6Asp	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/10	66/2926	17/1194	6/397	chr18	TogoVar
ACACA_chr17_37079992_37411836	37192182	G G	C C	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0071 a0002c0013t0001g0071	1	299	0.0033	c.432 others(4): Show c.4324C>G	p.Leu others(7): Show p.Leu1442Val	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	37/56	4861/10013	4324/7152	1442/2383	chr17	TogoVar
ACACA_chr17_37079992_37411836	37207766	T T	C C	missense_variant missense_variant	MODERATE	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0248 a0003c0008t0003g0248	1	299	0.0033	c.374 others(4): Show c.3742A>G	p.Met others(7): Show p.Met1248Val	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	31/56	4279/10013	3742/7152	1248/2383	chr17	TogoVar
ACACA_chr17_37079992_37411836	37243553	C C	G G	missense_variant missense_variant	MODERATE	NA18973.hp1 NA18973.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0247 a0004c0014t0001g0247	1	299	0.0033	c.274 others(4): Show c.2749G>C	p.Asp others(6): Show p.Asp917His	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	22/56	3286/10013	2749/7152	917/2383	chr17	TogoVar
ACACA_chr17_37079992_37411836	37244707	G G	A A	missense_variant missense_variant	MODERATE	NA19066.hp1 NA19066.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0246 a0005c0016t0001g0246	1	299	0.0033	c.262 others(4): Show c.2623C>T	p.Arg others(6): Show p.Arg875Trp	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	21/56	3160/10013	2623/7152	875/2383	chr17	TogoVar
ACACB_chr12_109111587_109273226	109139533	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01884.hp1	a0017 a0017	a0017c0123 a0017c0123	a0017c0123t0015 a0017c0123t0015	a0017c0123t0015g0058 a0017c0123t0015g0058	1	308	0.0033	c.128 others(3): Show c.128C>T	p.Pro others(5): Show p.Pro43Leu	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/53	255/9368	128/7377	43/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109139668	G G	A A	missense_variant missense_variant	MODERATE	NA19043.hp1 NA19043.hp1	a0018 a0018	a0018c0051 a0018c0051	a0018c0051t0023 a0018c0051t0023	a0018c0051t0023g0279 a0018c0051t0023g0279	1	308	0.0033	c.263 others(3): Show c.263G>A	p.Arg others(5): Show p.Arg88Gln	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/53	390/9368	263/7377	88/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109166863	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19010.hp1 NA19010.hp1	a0019 a0019	a0019c0093 a0019c0093	a0019c0093t0001 a0019c0093t0001	a0019c0093t0001g0159 a0019c0093t0001g0159	1	308	0.0033	c.656 others(3): Show c.656C>T	p.Pro others(6): Show p.Pro219Leu	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/53	783/9368	656/7377	219/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109171822	G G	T T	missense_variant missense_variant	MODERATE	HG03704.hp1 HG03704.hp1	a0041 a0041	a0041c0116 a0041c0116	a0041c0116t0003 a0041c0116t0003	a0041c0116t0003g0069 a0041c0116t0003g0069	1	308	0.0033	c.943 others(3): Show c.943G>T	p.Asp others(6): Show p.Asp315Tyr	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	5/53	1070/9368	943/7377	315/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109174182	G G	A A	missense_variant missense_variant	MODERATE	HG03704.hp2 HG03704.hp2	a0020 a0020	a0020c0052 a0020c0052	a0020c0052t0001 a0020c0052t0001	a0020c0052t0001g0210 a0020c0052t0001g0210	1	308	0.0033	c.116 others(4): Show c.1168G>A	p.Val others(6): Show p.Val390Ile	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	7/53	1295/9368	1168/7377	390/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109174201	A A	G G	missense_variant missense_variant	MODERATE	NA19084.hp1 NA19084.hp1	a0040 a0040	a0040c0115 a0040c0115	a0040c0115t0001 a0040c0115t0001	a0040c0115t0001g0258 a0040c0115t0001g0258	1	308	0.0033	c.118 others(4): Show c.1187A>G	p.Gln others(6): Show p.Gln396Arg	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	7/53	1314/9368	1187/7377	396/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109176021	A A	G G	missense_variant missense_variant	MODERATE	NA18974.hp1 NA19074.hp2 NA18974.hp1 NA19074.hp2	a0016 a0016	a0016c0047 a0016c0047	a0016c0047t0002 a0016c0047t0002	a0016c0047t0002g0175 a0016c0047t0002g0176 a0016c0047t0002g0175 a0016c0047t0002g0176	2	308	0.0065	c.130 others(4): Show c.1307A>G	p.Asp others(6): Show p.Asp436Gly	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	8/53	1434/9368	1307/7377	436/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109179923	A A	G G	missense_variant missense_variant	MODERATE	HG00323.hp1 HG01109.hp2 HG01433.hp1 others(19): Show HG00323.hp1 HG01109.hp2 HG01433.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02809.hp1 HG02818.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 NA18522.hp2 NA18992.hp2 NA19009.hp2 NA19030.hp2 NA19060.hp2	a0006 a0008 a0014 others(1): Show a0006 a0008 a0014 a0015	a0006c0026 a0006c0031 a0006c0078 others(10): Show a0006c0026 a0006c0031 a0006c0078 a0006c0113 a0006c0120 a0006c0121 a0006c0122 a0008c0015 a0008c0044 a0014c0077 a0014c0079 a0015c0114 a0015c0119	a0006c0026t0002 a0006c0026t0016 a0006c0031t0004 others(13): Show a0006c0026t0002 a0006c0026t0016 a0006c0031t0004 a0006c0031t0013 a0006c0078t0001 a0006c0113t0004 a0006c0120t0003 a0006c0121t0004 a0006c0122t0004 a0008c0015t0005 a0008c0044t0003 a0008c0044t0025 a0014c0077t0004 a0014c0079t0004 a0015c0114t0004 a0015c0119t0004	a0006c0026t0002g0155 a0006c0026t0002g0156 a0006c0026t0016g0066 others(19): Show a0006c0026t0002g0155 a0006c0026t0002g0156 a0006c0026t0016g0066 a0006c0031t0004g0002 a0006c0031t0004g0206 a0006c0031t0013g0205 a0006c0078t0001g0181 a0006c0113t0004g0031 a0006c0120t0003g0043 a0006c0121t0004g0170 a0006c0122t0004g0167 a0008c0015t0005g0057 a0008c0015t0005g0168 a0008c0015t0005g0171 a0008c0015t0005g0172 a0008c0015t0005g0173 a0008c0044t0003g0182 a0008c0044t0025g0166 a0014c0077t0004g0118 a0014c0079t0004g0180 a0015c0114t0004g0009 a0015c0119t0004g0169	22	308	0.0714	c.165 others(4): Show c.1654A>G	p.Ile others(6): Show p.Ile552Val	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	11/53	1781/9368	1654/7377	552/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109185711	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00609.hp2 HG00621.hp2 others(50): Show HG00408.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01192.hp2 HG01261.hp2 HG01515.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02132.hp2 HG02738.hp2 HG03195.hp1 HG03654.hp2 HG04199.hp1 HG04204.hp1 NA18747.hp1 NA18942.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18974.hp1 NA18979.hp1 NA18983.hp1 NA18993.hp1 NA19004.hp1 NA19011.hp1 NA19012.hp1 NA19057.hp1 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19080.hp2 NA19084.hp2	a0003 a0005 a0011 others(3): Show a0003 a0005 a0011 a0016 a0038 a0039	a0003c0001 a0003c0005 a0003c0081 others(8): Show a0003c0001 a0003c0005 a0003c0081 a0003c0083 a0005c0009 a0005c0019 a0005c0056 a0011c0027 a0016c0047 a0038c0082 a0039c0080	a0003c0001t0001 a0003c0001t0004 a0003c0001t0008 others(13): Show a0003c0001t0001 a0003c0001t0004 a0003c0001t0008 a0003c0005t0002 a0003c0081t0002 a0003c0083t0001 a0005c0009t0003 a0005c0009t0006 a0005c0019t0003 a0005c0019t0006 a0005c0056t0003 a0011c0027t0004 a0011c0027t0013 a0016c0047t0002 a0038c0082t0002 a0039c0080t0010	a0003c0001t0001g0064 a0003c0001t0001g0087 a0003c0001t0001g0132 others(50): Show a0003c0001t0001g0064 a0003c0001t0001g0087 a0003c0001t0001g0132 a0003c0001t0001g0136 a0003c0001t0001g0137 a0003c0001t0001g0138 a0003c0001t0001g0140 a0003c0001t0001g0141 a0003c0001t0001g0142 a0003c0001t0001g0143 a0003c0001t0001g0145 a0003c0001t0001g0147 a0003c0001t0001g0149 a0003c0001t0001g0154 a0003c0001t0001g0158 a0003c0001t0001g0178 a0003c0001t0001g0265 a0003c0001t0001g0297 a0003c0001t0001g0298 a0003c0001t0004g0139 a0003c0001t0004g0266 a0003c0001t0008g0128 a0003c0005t0002g0059 a0003c0005t0002g0060 a0003c0005t0002g0129 a0003c0005t0002g0131 a0003c0005t0002g0134 a0003c0005t0002g0240 a0003c0005t0002g0245 a0003c0005t0002g0246 a0003c0005t0002g0264 a0003c0005t0002g0299 a0003c0081t0002g0230 a0003c0083t0001g0151 a0005c0009t0003g0061 a0005c0009t0003g0144 a0005c0009t0003g0164 a0005c0009t0003g0304 a0005c0009t0006g0148 a0005c0009t0006g0177 a0005c0009t0006g0257 a0005c0019t0003g0135 a0005c0019t0003g0152 a0005c0019t0003g0271 a0005c0019t0006g0076 a0005c0056t0003g0053 a0011c0027t0004g0150 a0011c0027t0004g0249 a0011c0027t0013g0065 a0016c0047t0002g0175 a0016c0047t0002g0176 a0038c0082t0002g0127 a0039c0080t0010g0071	53	308	0.1721	c.195 others(4): Show c.1951G>A	p.Ala others(6): Show p.Ala651Thr	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	12/53	2078/9368	1951/7377	651/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109197029	A A	G G	missense_variant missense_variant	MODERATE	HG00642.hp2 HG01167.hp1 HG01169.hp1 others(16): Show HG00642.hp2 HG01167.hp1 HG01169.hp1 HG02071.hp1 HG02074.hp2 HG02698.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 NA18946.hp2 NA18970.hp1 NA18981.hp1 NA18984.hp2 NA18992.hp1 NA19011.hp2 NA19012.hp2 NA19074.hp1 NA19085.hp1	a0004 a0010 a0020 others(2): Show a0004 a0010 a0020 a0037 a0041	a0004c0008 a0004c0040 a0004c0041 others(7): Show a0004c0008 a0004c0040 a0004c0041 a0004c0112 a0010c0042 a0010c0073 a0010c0075 a0020c0052 a0037c0072 a0041c0116	a0004c0008t0001 a0004c0008t0008 a0004c0040t0002 others(8): Show a0004c0008t0001 a0004c0008t0008 a0004c0040t0002 a0004c0041t0002 a0004c0112t0001 a0010c0042t0003 a0010c0073t0014 a0010c0075t0003 a0020c0052t0001 a0037c0072t0001 a0041c0116t0003	a0004c0008t0001g0198 a0004c0008t0001g0218 a0004c0008t0001g0221 others(16): Show a0004c0008t0001g0198 a0004c0008t0001g0218 a0004c0008t0001g0221 a0004c0008t0001g0227 a0004c0008t0008g0216 a0004c0008t0008g0219 a0004c0008t0008g0263 a0004c0040t0002g0213 a0004c0040t0002g0215 a0004c0041t0002g0222 a0004c0041t0002g0224 a0004c0112t0001g0119 a0010c0042t0003g0209 a0010c0042t0003g0220 a0010c0073t0014g0208 a0010c0075t0003g0214 a0020c0052t0001g0210 a0037c0072t0001g0217 a0041c0116t0003g0069	19	308	0.0617	c.250 others(4): Show c.2503A>G	p.Met others(6): Show p.Met835Val	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	17/53	2630/9368	2503/7377	835/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109222889	C C	G G	missense_variant missense_variant	MODERATE	HG03516.hp1 HG03516.hp1	a0021 a0021	a0021c0068 a0021c0068	a0021c0068t0001 a0021c0068t0001	a0021c0068t0001g0202 a0021c0068t0001g0202	1	308	0.0033	c.376 others(4): Show c.3769C>G	p.Gln others(7): Show p.Gln1257Glu	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	26/53	3896/9368	3769/7377	1257/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109227385	G G	C C	missense_variant missense_variant	MODERATE	NA19085.hp1 NA19085.hp1	a0037 a0037	a0037c0072 a0037c0072	a0037c0072t0001 a0037c0072t0001	a0037c0072t0001g0217 a0037c0072t0001g0217	1	308	0.0033	c.389 others(4): Show c.3897G>C	p.Arg others(7): Show p.Arg1299Ser	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	28/53	4024/9368	3897/7377	1299/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109227437	G G	A A	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01074.hp2 HG01106.hp2 others(8): Show HG01069.hp1 HG01074.hp2 HG01106.hp2 HG01258.hp2 HG01891.hp2 HG02809.hp2 HG02922.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp2 NA20129.hp1	a0009 a0033 a0034 others(3): Show a0009 a0033 a0034 a0035 a0036 a0039	a0009c0025 a0009c0096 a0009c0103 others(5): Show a0009c0025 a0009c0096 a0009c0103 a0033c0063 a0034c0102 a0035c0076 a0036c0094 a0039c0080	a0009c0025t0001 a0009c0096t0009 a0009c0103t0004 others(5): Show a0009c0025t0001 a0009c0096t0009 a0009c0103t0004 a0033c0063t0010 a0034c0102t0018 a0035c0076t0010 a0036c0094t0004 a0039c0080t0010	a0009c0025t0001g0105 a0009c0025t0001g0269 a0009c0025t0001g0270 others(8): Show a0009c0025t0001g0105 a0009c0025t0001g0269 a0009c0025t0001g0270 a0009c0025t0001g0301 a0009c0096t0009g0295 a0009c0103t0004g0165 a0033c0063t0010g0117 a0034c0102t0018g0195 a0035c0076t0010g0267 a0036c0094t0004g0072 a0039c0080t0010g0071	11	308	0.0357	c.394 others(4): Show c.3949G>A	p.Gly others(7): Show p.Gly1317Ser	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	28/53	4076/9368	3949/7377	1317/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109237187	G G	A A	missense_variant missense_variant	MODERATE	HG02080.hp2 HG02080.hp2	a0022 a0022	a0022c0084 a0022c0084	a0022c0084t0004 a0022c0084t0004	a0022c0084t0004g0254 a0022c0084t0004g0254	1	308	0.0033	c.446 others(4): Show c.4469G>A	p.Arg others(7): Show p.Arg1490His	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	34/53	4596/9368	4469/7377	1490/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109239924	G G	A A	missense_variant missense_variant	MODERATE	NA18950.hp2 NA18950.hp2	a0023 a0023	a0023c0099 a0023c0099	a0023c0099t0001 a0023c0099t0001	a0023c0099t0001g0084 a0023c0099t0001g0084	1	308	0.0033	c.475 others(4): Show c.4757G>A	p.Arg others(7): Show p.Arg1586His	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	35/53	4884/9368	4757/7377	1586/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109241093	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp1	a0024 a0024	a0024c0091 a0024c0091	a0024c0091t0002 a0024c0091t0002	a0024c0091t0002g0174 a0024c0091t0002g0174	1	308	0.0033	c.483 others(4): Show c.4834C>T	p.Arg others(7): Show p.Arg1612Cys	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	36/53	4961/9368	4834/7377	1612/2458	chr12	TogoVar
ACACB_chr12_109111587_109273226	109241132	C C	T T	missense_variant missense_variant	MODERATE	HG02132.hp1 HG02132.hp1	a0025 a0025	a0025c0090 a0025c0090	a0025c0090t0003 a0025c0090t0003	a0025c0090t0003g0130 a0025c0090t0003g0130	1	308	0.0033	c.487 others(4): Show c.4873C>T	p.Leu others(7): Show p.Leu1625Phe	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	36/53	5000/9368	4873/7377	1625/2458	chr12	TogoVar

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