Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
ACOT8_chr20_45836721_45862392	45841874	G G	C C	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0086 a0005c0008t0001g0086	1	422	0.0024	c.924 others(3): Show c.924C>G	p.Ile others(6): Show p.Ile308Met	ACOT8	ENSG00000101473.17	transcript	ENST00000217455.9	protein_coding	6/6	1001/1154	924/960	308/319	chr20	TogoVar
ACOT8_chr20_45836721_45862392	45848669	G G	A A	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02486.hp2 HG06807.hp1 HG02451.hp2 HG02486.hp2 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0028 a0002c0003t0001g0028	3	422	0.0071	c.269 others(3): Show c.269C>T	p.Pro others(5): Show p.Pro90Leu	ACOT8	ENSG00000101473.17	transcript	ENST00000217455.9	protein_coding	3/6	346/1154	269/960	90/319	chr20	TogoVar
ACOT8_chr20_45836721_45862392	45855198	C C	T T	missense_variant missense_variant	MODERATE	NA19058.hp2 NA19058.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0122 a0004c0007t0001g0122	1	422	0.0024	c.223 others(3): Show c.223G>A	p.Val others(5): Show p.Val75Ile	ACOT8	ENSG00000101473.17	transcript	ENST00000217455.9	protein_coding	2/6	300/1154	223/960	75/319	chr20	TogoVar
ACOT8_chr20_45836721_45862392	45855270	C C	T T	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02559.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0080 a0006c0006t0001g0080	1	422	0.0024	c.151 others(3): Show c.151G>A	p.Ala others(5): Show p.Ala51Thr	ACOT8	ENSG00000101473.17	transcript	ENST00000217455.9	protein_coding	2/6	228/1154	151/960	51/319	chr20	TogoVar
ACOT8_chr20_45836721_45862392	45857266	C C	T T	missense_variant missense_variant	MODERATE	HG01069.hp1 NA19030.hp2 HG01069.hp1 NA19030.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0036 a0003c0004t0001g0036	2	422	0.0047	c.50G others(2): Show c.50G>A	p.Gly others(5): Show p.Gly17Asp	ACOT8	ENSG00000101473.17	transcript	ENST00000217455.9	protein_coding	1/6	127/1154	50/960	17/319	chr20	TogoVar
ACOT9_chrX_23696055_23748276	23705594	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00733.hp2 HG00738.hp1 HG02622.hp1 others(1): Show HG00733.hp2 HG00738.hp1 HG02622.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0043 a0002c0003t0002 a0002c0003t0043	a0002c0003t0002g0010 a0002c0003t0002g0293 a0002c0003t0043g0294 a0002c0003t0002g0010 a0002c0003t0002g0293 a0002c0003t0043g0294	4	309	0.0129	c.934 others(3): Show c.934G>C	p.Glu others(6): Show p.Glu312Gln	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	13/16	1066/4318	934/1347	312/448	chrX	TogoVar
ACOT9_chrX_23696055_23748276	23730855	T T	C C	missense_variant missense_variant	MODERATE	HG02293.hp2 NA18522.hp1 HG02293.hp2 NA18522.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0014 a0003c0004t0050 a0003c0004t0014 a0003c0004t0050	a0003c0004t0014g0022 a0003c0004t0050g0217 a0003c0004t0014g0022 a0003c0004t0050g0217	2	309	0.0065	c.323 others(3): Show c.323A>G	p.Glu others(6): Show p.Glu108Gly	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	5/16	455/4318	323/1347	108/448	chrX	TogoVar
ACOT9_chrX_23696055_23748276	23735999	T T	C C	missense_variant missense_variant	MODERATE	HG02683.hp1 HG02683.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0007 a0008c0010t0007	a0008c0010t0007g0186 a0008c0010t0007g0186	1	309	0.0032	c.38A others(2): Show c.38A>G	p.Lys others(5): Show p.Lys13Arg	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	2/16	170/4318	38/1347	13/448	chrX	TogoVar
ACOX1_chr17_75936507_75984166	75948415	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01891.hp1 HG01934.hp1 others(7): Show HG01884.hp1 HG01891.hp1 HG01934.hp1 HG02145.hp1 HG02965.hp1 HG03139.hp1 HG03225.hp2 HG03516.hp2 NA19043.hp1 NA21309.hp1	a0003 a0003	a0003c0005 a0003c0006 a0003c0005 a0003c0006	a0003c0005t0017 a0003c0005t0025 a0003c0005t0054 others(2): Show a0003c0005t0017 a0003c0005t0025 a0003c0005t0054 a0003c0005t0055 a0003c0006t0016	a0003c0005t0017g0036 a0003c0005t0017g0041 a0003c0005t0017g0042 others(7): Show a0003c0005t0017g0036 a0003c0005t0017g0041 a0003c0005t0017g0042 a0003c0005t0025g0124 a0003c0005t0025g0135 a0003c0005t0054g0315 a0003c0005t0055g0157 a0003c0006t0016g0316 a0003c0006t0016g0317 a0003c0006t0016g0318	10	344	0.0291	c.177 others(4): Show c.1771C>T	p.Arg others(6): Show p.Arg591Cys	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	13/14	1864/7317	1771/1983	591/660	chr17	TogoVar
ACOX1_chr17_75936507_75984166	75948434	C C	A A	missense_variant missense_variant	MODERATE	HG01258.hp1 HG01258.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0300 a0007c0015t0001g0300	1	344	0.0029	c.175 others(4): Show c.1752G>T	p.Gln others(6): Show p.Gln584His	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	13/14	1845/7317	1752/1983	584/660	chr17	TogoVar
ACOX1_chr17_75936507_75984166	75949559	A A	G G	missense_variant missense_variant	MODERATE	HG02886.hp1 HG02886.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0037 a0005c0012t0037	a0005c0012t0037g0031 a0005c0012t0037g0031	1	344	0.0029	c.152 others(4): Show c.1520T>C	p.Ile others(6): Show p.Ile507Thr	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	11/14	1613/7317	1520/1983	507/660	chr17	TogoVar
ACOX1_chr17_75936507_75984166	75949776	T T	C C	missense_variant missense_variant	MODERATE	NA18978.hp1 NA18978.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0003 a0006c0013t0003	a0006c0013t0003g0109 a0006c0013t0003g0109	1	344	0.0029	c.142 others(4): Show c.1420A>G	p.Met others(6): Show p.Met474Val	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	10/14	1513/7317	1420/1983	474/660	chr17	TogoVar
ACOX1_chr17_75936507_75984166	75949778	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0005 a0004c0014t0005	a0004c0014t0005g0027 a0004c0014t0005g0027	1	344	0.0029	c.141 others(4): Show c.1418C>T	p.Thr others(6): Show p.Thr473Ile	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	10/14	1511/7317	1418/1983	473/660	chr17	TogoVar
ACOX1_chr17_75936507_75984166	75950834	T T	C C	missense_variant missense_variant	MODERATE	HG00621.hp2 HG00621.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0236 a0008c0016t0001g0236	1	344	0.0029	c.123 others(4): Show c.1238A>G	p.Asn others(6): Show p.Asn413Ser	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	9/14	1331/7317	1238/1983	413/660	chr17	TogoVar
ACOX1_chr17_75936507_75984166	75953459	G G	C C	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(154): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03225.hp1 HG03486.hp1 HG03491.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19077.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0007 a0008 a0002 a0007 a0008	a0002c0002 a0002c0007 a0002c0011 others(3): Show a0002c0002 a0002c0007 a0002c0011 a0002c0017 a0007c0015 a0008c0016	a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 others(25): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0009 a0002c0002t0010 a0002c0002t0020 a0002c0002t0023 a0002c0002t0027 a0002c0002t0028 a0002c0002t0032 a0002c0002t0062 a0002c0002t0063 a0002c0002t0064 a0002c0002t0065 a0002c0002t0066 a0002c0002t0067 a0002c0002t0068 a0002c0002t0069 a0002c0002t0070 a0002c0002t0071 a0002c0002t0074 a0002c0002t0075 a0002c0002t0077 a0002c0007t0014 a0002c0011t0001 a0002c0017t0006 a0007c0015t0001 a0008c0016t0001	a0002c0002t0001g0001 a0002c0002t0001g0021 a0002c0002t0001g0022 others(153): Show a0002c0002t0001g0001 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0134 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0154 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0214 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0232 a0002c0002t0001g0235 a0002c0002t0001g0237 a0002c0002t0001g0240 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0260 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0281 a0002c0002t0001g0283 a0002c0002t0001g0285 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0291 a0002c0002t0001g0293 a0002c0002t0001g0295 a0002c0002t0001g0297 a0002c0002t0001g0299 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0311 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0334 a0002c0002t0004g0239 a0002c0002t0006g0110 a0002c0002t0006g0122 a0002c0002t0006g0123 a0002c0002t0006g0201 a0002c0002t0006g0286 a0002c0002t0009g0125 a0002c0002t0009g0141 a0002c0002t0009g0206 a0002c0002t0009g0238 a0002c0002t0009g0290 a0002c0002t0010g0142 a0002c0002t0010g0162 a0002c0002t0010g0198 a0002c0002t0010g0279 a0002c0002t0010g0287 a0002c0002t0020g0215 a0002c0002t0020g0245 a0002c0002t0020g0292 a0002c0002t0023g0167 a0002c0002t0023g0309 a0002c0002t0027g0208 a0002c0002t0027g0259 a0002c0002t0028g0136 a0002c0002t0028g0151 a0002c0002t0032g0231 a0002c0002t0062g0219 a0002c0002t0063g0247 a0002c0002t0064g0270 a0002c0002t0065g0184 a0002c0002t0066g0223 a0002c0002t0067g0224 a0002c0002t0068g0234 a0002c0002t0069g0086 a0002c0002t0070g0174 a0002c0002t0071g0298 a0002c0002t0074g0213 a0002c0002t0075g0280 a0002c0002t0077g0340 a0002c0007t0014g0179 a0002c0007t0014g0180 a0002c0007t0014g0241 a0002c0011t0001g0230 a0002c0017t0006g0274 a0007c0015t0001g0300 a0008c0016t0001g0236	157	344	0.4564	c.936 others(3): Show c.936C>G	p.Ile others(6): Show p.Ile312Met	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	7/14	1029/7317	936/1983	312/660	chr17	TogoVar
ACOX1_chr17_75936507_75984166	75979001	C C	T T	missense_variant missense_variant	MODERATE	NA18947.hp2 NA18947.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0002 a0009c0009t0002g0002	1	344	0.0029	c.73G others(2): Show c.73G>A	p.Gly others(5): Show p.Gly25Ser	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	1/14	166/7317	73/1983	25/660	chr17	TogoVar
ACOX2_chr3_58500136_58542190	58508981	T T	C C	missense_variant missense_variant	MODERATE	HG04199.hp2 HG04199.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0124 a0008c0017t0001g0124	1	364	0.0028	c.189 others(4): Show c.1895A>G	p.Gln others(6): Show p.Gln632Arg	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	14/15	2058/2297	1895/2046	632/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58517216	G G	A A	missense_variant missense_variant	MODERATE	HG02015.hp2 HG02027.hp2 NA19087.hp2 HG02015.hp2 HG02027.hp2 NA19087.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0204 a0002c0007t0001g0205 a0002c0007t0001g0206 a0002c0007t0001g0204 a0002c0007t0001g0205 a0002c0007t0001g0206	3	364	0.0082	c.184 others(4): Show c.1840C>T	p.Arg others(6): Show p.Arg614Cys	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/15	2003/2297	1840/2046	614/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58522546	G G	C C	missense_variant missense_variant	MODERATE	HG01175.hp2 HG01175.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0236 a0007c0018t0001g0236	1	364	0.0028	c.158 others(4): Show c.1582C>G	p.Gln others(6): Show p.Gln528Glu	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	12/15	1745/2297	1582/2046	528/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58524592	T T	C C	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0001 a0006c0015t0001	a0006c0015t0001g0044 a0006c0015t0001g0044	1	364	0.0028	c.136 others(4): Show c.1360A>G	p.Ser others(6): Show p.Ser454Gly	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	11/15	1523/2297	1360/2046	454/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58526596	C C	G G	missense_variant missense_variant	MODERATE	HG03139.hp2 HG03139.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0002 a0009c0014t0002	a0009c0014t0002g0297 a0009c0014t0002g0297	1	364	0.0028	c.121 others(4): Show c.1216G>C	p.Glu others(6): Show p.Glu406Gln	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	10/15	1379/2297	1216/2046	406/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58530512	C C	T T	missense_variant missense_variant	MODERATE	HG03195.hp1 HG03195.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0263 a0010c0013t0001g0263	1	364	0.0028	c.946 others(3): Show c.946G>A	p.Ala others(6): Show p.Ala316Thr	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	8/15	1109/2297	946/2046	316/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531357	A A	G G	missense_variant missense_variant	MODERATE	HG02559.hp2 HG06807.hp2 NA19002.hp2 HG02559.hp2 HG06807.hp2 NA19002.hp2	a0003 a0003	a0003c0010 a0003c0012 a0003c0010 a0003c0012	a0003c0010t0001 a0003c0012t0001 a0003c0010t0001 a0003c0012t0001	a0003c0010t0001g0258 a0003c0010t0001g0259 a0003c0012t0001g0107 a0003c0010t0001g0258 a0003c0010t0001g0259 a0003c0012t0001g0107	3	364	0.0082	c.713 others(3): Show c.713T>C	p.Ile others(6): Show p.Ile238Thr	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	7/15	876/2297	713/2046	238/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531767	C C	G G	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0266 a0005c0019t0002g0266	1	364	0.0028	c.629 others(3): Show c.629G>C	p.Cys others(6): Show p.Cys210Ser	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	792/2297	629/2046	210/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531770	A A	C C	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0266 a0005c0019t0002g0266	1	364	0.0028	c.626 others(3): Show c.626T>G	p.Ile others(6): Show p.Ile209Ser	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	789/2297	626/2046	209/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531771	T T	C C	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0266 a0005c0019t0002g0266	1	364	0.0028	c.625 others(3): Show c.625A>G	p.Ile others(6): Show p.Ile209Val	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	788/2297	625/2046	209/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531773	A A	G G	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0266 a0005c0019t0002g0266	1	364	0.0028	c.623 others(3): Show c.623T>C	p.Leu others(6): Show p.Leu208Pro	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	786/2297	623/2046	208/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531776	T T	G G	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0266 a0005c0019t0002g0266	1	364	0.0028	c.620 others(3): Show c.620A>C	p.Gln others(6): Show p.Gln207Pro	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	783/2297	620/2046	207/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531781	C C	A A	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0266 a0005c0019t0002g0266	1	364	0.0028	c.615 others(3): Show c.615G>T	p.Gln others(6): Show p.Gln205His	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	778/2297	615/2046	205/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531782	T T	A A	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0266 a0005c0019t0002g0266	1	364	0.0028	c.614 others(3): Show c.614A>T	p.Gln others(6): Show p.Gln205Leu	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	777/2297	614/2046	205/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531783	G G	T T	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0266 a0005c0019t0002g0266	1	364	0.0028	c.613 others(3): Show c.613C>A	p.Gln others(6): Show p.Gln205Lys	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	776/2297	613/2046	205/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531785	A A	C C	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0266 a0005c0019t0002g0266	1	364	0.0028	c.611 others(3): Show c.611T>G	p.Val others(6): Show p.Val204Gly	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	774/2297	611/2046	204/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531788	A A	C C	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0266 a0005c0019t0002g0266	1	364	0.0028	c.608 others(3): Show c.608T>G	p.Leu others(6): Show p.Leu203Arg	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	771/2297	608/2046	203/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531791	G G	C C	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0266 a0005c0019t0002g0266	1	364	0.0028	c.605 others(3): Show c.605C>G	p.Ala others(6): Show p.Ala202Gly	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	768/2297	605/2046	202/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531795	G G	C C	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0266 a0005c0019t0002g0266	1	364	0.0028	c.601 others(3): Show c.601C>G	p.His others(6): Show p.His201Asp	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	764/2297	601/2046	201/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531798	T T	A A	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0266 a0005c0019t0002g0266	1	364	0.0028	c.598 others(3): Show c.598A>T	p.Thr others(6): Show p.Thr200Ser	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	761/2297	598/2046	200/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531800	G G	T T	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0266 a0005c0019t0002g0266	1	364	0.0028	c.596 others(3): Show c.596C>A	p.Ala others(6): Show p.Ala199Asp	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	759/2297	596/2046	199/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531807	G G	C C	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0266 a0005c0019t0002g0266	1	364	0.0028	c.589 others(3): Show c.589C>G	p.Arg others(6): Show p.Arg197Gly	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	752/2297	589/2046	197/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58535003	C C	T T	missense_variant missense_variant	MODERATE	HG03471.hp2 HG03471.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0057 a0004c0011t0001g0057	1	364	0.0028	c.104 others(3): Show c.104G>A	p.Arg others(5): Show p.Arg35Gln	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	2/15	267/2297	104/2046	35/681	chr3	TogoVar
ACOX3_chr4_8361282_8445723	8367048	C C	G G	missense_variant missense_variant	MODERATE	NA18939.hp1 NA18939.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0314 a0008c0012t0001g0314	1	380	0.0026	c.201 others(4): Show c.2016G>C	p.Gln others(6): Show p.Gln672His	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	18/18	2106/2872	2016/2103	672/700	chr4	TogoVar
ACOX3_chr4_8361282_8445723	8374992	G G	A A	missense_variant missense_variant	MODERATE	HG00735.hp2 HG00735.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0225 a0009c0013t0002g0225	1	380	0.0026	c.181 others(4): Show c.1814C>T	p.Ala others(6): Show p.Ala605Val	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	15/18	1904/2872	1814/2103	605/700	chr4	TogoVar
ACOX3_chr4_8361282_8445723	8389221	C C	T T	missense_variant missense_variant	MODERATE	HG00735.hp1 HG01070.hp2 HG02258.hp2 others(5): Show HG00735.hp1 HG01070.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG03239.hp2 HG03540.hp2 HG03579.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0002c0015 a0005c0020 a0002c0004 a0002c0015 a0005c0020	a0002c0004t0001 a0002c0004t0003 a0002c0015t0002 others(1): Show a0002c0004t0001 a0002c0004t0003 a0002c0015t0002 a0005c0020t0009	a0002c0004t0001g0367 a0002c0004t0001g0368 a0002c0004t0003g0240 others(5): Show a0002c0004t0001g0367 a0002c0004t0001g0368 a0002c0004t0003g0240 a0002c0004t0003g0242 a0002c0004t0003g0243 a0002c0004t0003g0244 a0002c0015t0002g0369 a0005c0020t0009g0370	8	380	0.0211	c.148 others(4): Show c.1489G>A	p.Asp others(6): Show p.Asp497Asn	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	13/18	1579/2872	1489/2103	497/700	chr4	TogoVar
ACOX3_chr4_8361282_8445723	8389238	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00280.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0160 a0010c0014t0001g0160	1	380	0.0026	c.147 others(4): Show c.1472C>T	p.Ala others(6): Show p.Ala491Val	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	13/18	1562/2872	1472/2103	491/700	chr4	TogoVar
ACOX3_chr4_8361282_8445723	8389271	C C	G G	missense_variant missense_variant	MODERATE	HG01109.hp1 HG02615.hp2 HG01109.hp1 HG02615.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0003 a0003c0008t0001 a0003c0008t0003	a0003c0008t0001g0233 a0003c0008t0003g0234 a0003c0008t0001g0233 a0003c0008t0003g0234	2	380	0.0053	c.143 others(4): Show c.1439G>C	p.Arg others(6): Show p.Arg480Pro	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	13/18	1529/2872	1439/2103	480/700	chr4	TogoVar
ACOX3_chr4_8361282_8445723	8392368	C C	G G	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0002 a0007c0017t0002	a0007c0017t0002g0188 a0007c0017t0002g0188	1	380	0.0026	c.126 others(4): Show c.1265G>C	p.Cys others(6): Show p.Cys422Ser	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	11/18	1355/2872	1265/2103	422/700	chr4	TogoVar
ACOX3_chr4_8361282_8445723	8392369	A A	C C	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0002 a0007c0017t0002	a0007c0017t0002g0188 a0007c0017t0002g0188	1	380	0.0026	c.126 others(4): Show c.1264T>G	p.Cys others(6): Show p.Cys422Gly	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	11/18	1354/2872	1264/2103	422/700	chr4	TogoVar
ACOX3_chr4_8361282_8445723	8392370	T T	A A	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0002 a0007c0017t0002	a0007c0017t0002g0188 a0007c0017t0002g0188	1	380	0.0026	c.126 others(4): Show c.1263A>T	p.Glu others(6): Show p.Glu421Asp	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	11/18	1353/2872	1263/2103	421/700	chr4	TogoVar
ACOX3_chr4_8361282_8445723	8392441	G G	A A	missense_variant missense_variant	MODERATE	HG00621.hp1 HG00621.hp1	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0001 a0006c0018t0001	a0006c0018t0001g0354 a0006c0018t0001g0354	1	380	0.0026	c.119 others(4): Show c.1192C>T	p.Arg others(6): Show p.Arg398Cys	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	11/18	1282/2872	1192/2103	398/700	chr4	TogoVar
ACOX3_chr4_8361282_8445723	8414859	T T	G G	missense_variant missense_variant	MODERATE	HG03831.hp2 HG03831.hp2	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0002 a0004c0023t0002	a0004c0023t0002g0363 a0004c0023t0002g0363	1	380	0.0026	c.448 others(3): Show c.448A>C	p.Met others(6): Show p.Met150Leu	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	4/18	538/2872	448/2103	150/700	chr4	TogoVar
ACOX3_chr4_8361282_8445723	8414862	T T	C C	missense_variant missense_variant	MODERATE	HG03239.hp2 HG03239.hp2	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0009 a0005c0020t0009	a0005c0020t0009g0370 a0005c0020t0009g0370	1	380	0.0026	c.445 others(3): Show c.445A>G	p.Arg others(6): Show p.Arg149Gly	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	4/18	535/2872	445/2103	149/700	chr4	TogoVar

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