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
ANXA8_chr10_47462993_47489115	47468891	C C	G G	missense_variant missense_variant	MODERATE	HG01978.hp2 NA19043.hp2 HG01978.hp2 NA19043.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0104 a0009c0015t0001g0136 a0009c0015t0001g0104 a0009c0015t0001g0136	2	412	0.0049	c.940 others(3): Show c.940G>C	p.Asp others(6): Show p.Asp314His	ANXA8	ENSG00000265190.7	transcript	ENST00000585281.6	protein_coding	12/12	1122/2020	940/984	314/327	chr10	TogoVar
ANXA8_chr10_47462993_47489115	47471344	A A	G G	missense_variant missense_variant	MODERATE	NA18944.hp1 NA18953.hp1 NA19010.hp2 others(1): Show NA18944.hp1 NA18953.hp1 NA19010.hp2 NA19087.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0021 a0008c0011t0001g0021	4	412	0.0097	c.842 others(3): Show c.842T>C	p.Val others(6): Show p.Val281Ala	ANXA8	ENSG00000265190.7	transcript	ENST00000585281.6	protein_coding	11/12	1024/2020	842/984	281/327	chr10	TogoVar
ANXA8_chr10_47462993_47489115	47474380	C C	T T	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02145.hp2	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0001 a0012c0019t0001	a0012c0019t0001g0134 a0012c0019t0001g0134	1	412	0.0024	c.571 others(3): Show c.571G>A	p.Glu others(6): Show p.Glu191Lys	ANXA8	ENSG00000265190.7	transcript	ENST00000585281.6	protein_coding	8/12	753/2020	571/984	191/327	chr10	TogoVar
ANXA8_chr10_47462993_47489115	47474398	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03491.hp2 HG03491.hp2	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0002 a0011c0023t0002	a0011c0023t0002g0079 a0011c0023t0002g0079	1	412	0.0024	c.553 others(3): Show c.553G>A	p.Asp others(6): Show p.Asp185Asn	ANXA8	ENSG00000265190.7	transcript	ENST00000585281.6	protein_coding	8/12	735/2020	553/984	185/327	chr10	TogoVar
ANXA8_chr10_47462993_47489115	47474965	G G	C C	missense_variant missense_variant	MODERATE	NA18979.hp1 NA18979.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0002 a0013c0021t0002	a0013c0021t0002g0118 a0013c0021t0002g0118	1	412	0.0024	c.532 others(3): Show c.532C>G	p.Leu others(6): Show p.Leu178Val	ANXA8	ENSG00000265190.7	transcript	ENST00000585281.6	protein_coding	7/12	714/2020	532/984	178/327	chr10	TogoVar
ANXA8_chr10_47462993_47489115	47474967	C C	G G	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00423.hp1 HG00558.hp1 others(148): Show HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG01943.hp1 HG01952.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03491.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG04199.hp1 HG04204.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19058.hp1 NA19059.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA21309.hp1	a0002 a0003 a0005 others(3): Show a0002 a0003 a0005 a0006 a0007 a0011	a0002c0002 a0002c0003 a0002c0004 others(11): Show a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0016 a0002c0024 a0002c0025 a0003c0006 a0005c0010 a0006c0013 a0006c0017 a0007c0012 a0011c0023	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(19): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0003t0001 a0002c0003t0005 a0002c0003t0011 a0002c0004t0001 a0002c0004t0004 a0002c0005t0001 a0002c0005t0002 a0002c0007t0001 a0002c0016t0002 a0002c0024t0010 a0002c0025t0002 a0003c0006t0001 a0003c0006t0002 a0005c0010t0002 a0006c0013t0006 a0006c0017t0001 a0007c0012t0001 a0011c0023t0002	a0002c0002t0001g0004 a0002c0002t0001g0071 a0002c0002t0001g0080 others(62): Show a0002c0002t0001g0004 a0002c0002t0001g0071 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0002g0001 a0002c0002t0002g0011 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0025 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0090 a0002c0002t0003g0076 a0002c0002t0008g0055 a0002c0003t0001g0133 a0002c0003t0001g0155 a0002c0003t0001g0164 a0002c0003t0005g0049 a0002c0003t0005g0165 a0002c0003t0005g0168 a0002c0003t0011g0169 a0002c0004t0001g0184 a0002c0004t0004g0052 a0002c0004t0004g0053 a0002c0004t0004g0182 a0002c0004t0004g0183 a0002c0004t0004g0185 a0002c0005t0001g0088 a0002c0005t0002g0026 a0002c0005t0002g0087 a0002c0005t0002g0089 a0002c0007t0001g0007 a0002c0016t0002g0036 a0002c0024t0010g0078 a0002c0025t0002g0072 a0003c0006t0001g0065 a0003c0006t0002g0016 a0003c0006t0002g0064 a0005c0010t0002g0024 a0005c0010t0002g0037 a0006c0013t0006g0054 a0006c0013t0006g0187 a0006c0017t0001g0056 a0007c0012t0001g0172 a0007c0012t0001g0173 a0007c0012t0001g0174 a0007c0012t0001g0175 a0011c0023t0002g0079	151	412	0.3665	c.530 others(3): Show c.530G>C	p.Gly others(6): Show p.Gly177Ala	ANXA8	ENSG00000265190.7	transcript	ENST00000585281.6	protein_coding	7/12	712/2020	530/984	177/327	chr10	TogoVar
ANXA8_chr10_47462993_47489115	47474971	G G	C C	missense_variant missense_variant	MODERATE	HG00621.hp1 NA18965.hp1 NA18968.hp1 others(2): Show HG00621.hp1 NA18965.hp1 NA18968.hp1 NA19002.hp2 NA19006.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0024 a0005c0010t0002g0037 a0005c0010t0002g0024 a0005c0010t0002g0037	5	412	0.0121	c.526 others(3): Show c.526C>G	p.Pro others(6): Show p.Pro176Ala	ANXA8	ENSG00000265190.7	transcript	ENST00000585281.6	protein_coding	7/12	708/2020	526/984	176/327	chr10	TogoVar
ANXA8_chr10_47462993_47489115	47476244	C C	T T	missense_variant missense_variant	MODERATE	HG01978.hp1 HG01978.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0001 a0014c0018t0001	a0014c0018t0001g0128 a0014c0018t0001g0128	1	412	0.0024	c.400 others(3): Show c.400G>A	p.Ala others(6): Show p.Ala134Thr	ANXA8	ENSG00000265190.7	transcript	ENST00000585281.6	protein_coding	5/12	582/2020	400/984	134/327	chr10	TogoVar
ANXA8_chr10_47462993_47489115	47477089	C C	T T	missense_variant missense_variant	MODERATE	HG00738.hp2 HG01496.hp1 HG01943.hp1 others(3): Show HG00738.hp2 HG01496.hp1 HG01943.hp1 HG01952.hp2 HG02293.hp2 HG02300.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0002 a0003c0006t0001 a0003c0006t0002	a0003c0006t0001g0065 a0003c0006t0002g0016 a0003c0006t0002g0064 a0003c0006t0001g0065 a0003c0006t0002g0016 a0003c0006t0002g0064	6	412	0.0146	c.313 others(3): Show c.313G>A	p.Ala others(6): Show p.Ala105Thr	ANXA8	ENSG00000265190.7	transcript	ENST00000585281.6	protein_coding	4/12	495/2020	313/984	105/327	chr10	TogoVar
ANXA8_chr10_47462993_47489115	47477124	G G	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG01109.hp2 HG02723.hp2 others(1): Show HG00741.hp2 HG01109.hp2 HG02723.hp2 NA21309.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0172 a0007c0012t0001g0173 a0007c0012t0001g0174 others(1): Show a0007c0012t0001g0172 a0007c0012t0001g0173 a0007c0012t0001g0174 a0007c0012t0001g0175	4	412	0.0097	c.278 others(3): Show c.278C>T	p.Pro others(5): Show p.Pro93Leu	ANXA8	ENSG00000265190.7	transcript	ENST00000585281.6	protein_coding	4/12	460/2020	278/984	93/327	chr10	TogoVar
ANXA8_chr10_47462993_47489115	47478555	G G	A A	missense_variant missense_variant	MODERATE	HG03017.hp2 HG03017.hp2	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0001 a0010c0022t0001	a0010c0022t0001g0108 a0010c0022t0001g0108	1	412	0.0024	c.185 others(3): Show c.185C>T	p.Ser others(5): Show p.Ser62Phe	ANXA8	ENSG00000265190.7	transcript	ENST00000585281.6	protein_coding	3/12	367/2020	185/984	62/327	chr10	TogoVar
ANXA8_chr10_47462993_47489115	47479816	T T	G G	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02647.hp1 HG02895.hp2 others(3): Show HG02257.hp2 HG02647.hp1 HG02895.hp2 HG02897.hp1 HG03453.hp1 NA19240.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0012 a0004c0008t0001g0143 a0004c0008t0001g0012 a0004c0008t0001g0143	6	412	0.0146	c.94A others(2): Show c.94A>C	p.Lys others(5): Show p.Lys32Gln	ANXA8	ENSG00000265190.7	transcript	ENST00000585281.6	protein_coding	2/12	276/2020	94/984	32/327	chr10	TogoVar
ANXA8_chr10_47462993_47489115	47483918	A A	C C	missense_variant missense_variant	MODERATE	HG01192.hp1 HG01884.hp2 HG02015.hp2 others(1): Show HG01192.hp1 HG01884.hp2 HG02015.hp2 HG03209.hp2	a0006 a0006	a0006c0013 a0006c0017 a0006c0013 a0006c0017	a0006c0013t0006 a0006c0017t0001 a0006c0013t0006 a0006c0017t0001	a0006c0013t0006g0054 a0006c0013t0006g0187 a0006c0017t0001g0056 a0006c0013t0006g0054 a0006c0013t0006g0187 a0006c0017t0001g0056	4	412	0.0097	c.16T others(2): Show c.16T>G	p.Ser others(4): Show p.Ser6Ala	ANXA8	ENSG00000265190.7	transcript	ENST00000585281.6	protein_coding	1/12	198/2020	16/984	6/327	chr10	TogoVar
ANXA9_chr1_150977292_151000634	150983344	G G	A A	missense_variant missense_variant	MODERATE	HG02486.hp2 HG03516.hp1 NA19240.hp1 others(1): Show HG02486.hp2 HG03516.hp1 NA19240.hp1 NA20129.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0002 a0004c0005t0001g0014 a0004c0005t0001g0002 a0004c0005t0001g0014	4	398	0.0101	c.82G others(2): Show c.82G>A	p.Ala others(5): Show p.Ala28Thr	ANXA9	ENSG00000143412.10	transcript	ENST00000368947.9	protein_coding	4/14	283/1551	82/1038	28/345	chr1	TogoVar
ANXA9_chr1_150977292_151000634	150983993	T T	C C	missense_variant missense_variant	MODERATE	HG02523.hp2 HG02523.hp2	a0014 a0014	a0014c0008 a0014c0008	a0014c0008t0001 a0014c0008t0001	a0014c0008t0001g0147 a0014c0008t0001g0147	1	398	0.0025	c.191 others(3): Show c.191T>C	p.Ile others(5): Show p.Ile64Thr	ANXA9	ENSG00000143412.10	transcript	ENST00000368947.9	protein_coding	5/14	392/1551	191/1038	64/345	chr1	TogoVar
ANXA9_chr1_150977292_151000634	150984353	A A	G G	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02280.hp2 HG02723.hp1 others(7): Show HG01884.hp1 HG02280.hp2 HG02723.hp1 HG02818.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0013 a0003c0004t0001g0043 a0003c0004t0001g0044 others(3): Show a0003c0004t0001g0013 a0003c0004t0001g0043 a0003c0004t0001g0044 a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0149	10	398	0.0251	c.340 others(3): Show c.340A>G	p.Thr others(6): Show p.Thr114Ala	ANXA9	ENSG00000143412.10	transcript	ENST00000368947.9	protein_coding	6/14	541/1551	340/1038	114/345	chr1	TogoVar
ANXA9_chr1_150977292_151000634	150984368	G G	A A	missense_variant missense_variant	MODERATE	HG02976.hp2 HG02976.hp2	a0013 a0013	a0013c0009 a0013c0009	a0013c0009t0001 a0013c0009t0001	a0013c0009t0001g0101 a0013c0009t0001g0101	1	398	0.0025	c.355 others(3): Show c.355G>A	p.Ala others(6): Show p.Ala119Thr	ANXA9	ENSG00000143412.10	transcript	ENST00000368947.9	protein_coding	6/14	556/1551	355/1038	119/345	chr1	TogoVar
ANXA9_chr1_150977292_151000634	150984652	G G	A A	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02622.hp2	a0012 a0012	a0012c0010 a0012c0010	a0012c0010t0001 a0012c0010t0001	a0012c0010t0001g0020 a0012c0010t0001g0020	1	398	0.0025	c.448 others(3): Show c.448G>A	p.Glu others(6): Show p.Glu150Lys	ANXA9	ENSG00000143412.10	transcript	ENST00000368947.9	protein_coding	7/14	649/1551	448/1038	150/345	chr1	TogoVar
ANXA9_chr1_150977292_151000634	150984658	C C	G G	missense_variant missense_variant	MODERATE	NA18967.hp1 NA19003.hp2 NA19087.hp2 NA18967.hp1 NA19003.hp2 NA19087.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0001 a0006c0006t0001g0010 a0006c0006t0001g0059 a0006c0006t0001g0001 a0006c0006t0001g0010 a0006c0006t0001g0059	3	398	0.0075	c.454 others(3): Show c.454C>G	p.Leu others(6): Show p.Leu152Val	ANXA9	ENSG00000143412.10	transcript	ENST00000368947.9	protein_coding	7/14	655/1551	454/1038	152/345	chr1	TogoVar
ANXA9_chr1_150977292_151000634	150986360	A A	G G	missense_variant missense_variant	MODERATE	HG00280.hp1 HG01069.hp2 HG01071.hp2 others(19): Show HG00280.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01361.hp2 HG02486.hp2 HG03041.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03704.hp2 HG03831.hp2 HG04199.hp1 NA18962.hp2 NA18964.hp2 NA18978.hp1 NA18979.hp1 NA18986.hp1 NA19082.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0003 a0004c0005 a0005c0007 a0002c0003 a0004c0005 a0005c0007	a0002c0003t0001 a0004c0005t0001 a0005c0007t0001 a0002c0003t0001 a0004c0005t0001 a0005c0007t0001	a0002c0003t0001g0002 a0002c0003t0001g0014 a0002c0003t0001g0024 others(7): Show a0002c0003t0001g0002 a0002c0003t0001g0014 a0002c0003t0001g0024 a0002c0003t0001g0036 a0002c0003t0001g0129 a0002c0003t0001g0134 a0004c0005t0001g0002 a0004c0005t0001g0014 a0005c0007t0001g0002 a0005c0007t0001g0014	22	398	0.0553	c.497 others(3): Show c.497A>G	p.Asp others(6): Show p.Asp166Gly	ANXA9	ENSG00000143412.10	transcript	ENST00000368947.9	protein_coding	8/14	698/1551	497/1038	166/345	chr1	TogoVar
ANXA9_chr1_150977292_151000634	150987947	C C	T T	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00438.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0146 a0007c0015t0001g0146	1	398	0.0025	c.688 others(3): Show c.688C>T	p.Leu others(6): Show p.Leu230Phe	ANXA9	ENSG00000143412.10	transcript	ENST00000368947.9	protein_coding	10/14	889/1551	688/1038	230/345	chr1	TogoVar
ANXA9_chr1_150977292_151000634	150988117	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01167.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0113 a0011c0011t0001g0113	1	398	0.0025	c.724 others(3): Show c.724G>A	p.Gly others(6): Show p.Gly242Arg	ANXA9	ENSG00000143412.10	transcript	ENST00000368947.9	protein_coding	11/14	925/1551	724/1038	242/345	chr1	TogoVar
ANXA9_chr1_150977292_151000634	150988180	G G	A A	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02572.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0019 a0010c0013t0001g0019	1	398	0.0025	c.787 others(3): Show c.787G>A	p.Gly others(6): Show p.Gly263Ser	ANXA9	ENSG00000143412.10	transcript	ENST00000368947.9	protein_coding	11/14	988/1551	787/1038	263/345	chr1	TogoVar
ANXA9_chr1_150977292_151000634	150988304	C C	T T	missense_variant missense_variant	MODERATE	HG02027.hp2 HG02027.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0110 a0008c0012t0001g0110	1	398	0.0025	c.815 others(3): Show c.815C>T	p.Pro others(6): Show p.Pro272Leu	ANXA9	ENSG00000143412.10	transcript	ENST00000368947.9	protein_coding	12/14	1016/1551	815/1038	272/345	chr1	TogoVar
ANXA9_chr1_150977292_151000634	150994661	A A	G G	missense_variant missense_variant	MODERATE	HG03471.hp2 HG03471.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0085 a0009c0014t0001g0085	1	398	0.0025	c.937 others(3): Show c.937A>G	p.Arg others(6): Show p.Arg313Gly	ANXA9	ENSG00000143412.10	transcript	ENST00000368947.9	protein_coding	13/14	1138/1551	937/1038	313/345	chr1	TogoVar
AOAH_chr7_36507941_36729494	36513344	T T	G G	missense_variant missense_variant	MODERATE	HG01358.hp1 HG01358.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0097 a0011c0020t0001g0097	1	306	0.0033	c.163 others(4): Show c.1636A>C	p.Lys others(6): Show p.Lys546Gln	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	21/21	1982/2385	1636/1728	546/575	chr7	TogoVar
AOAH_chr7_36507941_36729494	36522074	G G	A A	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0010 a0010c0025t0010	a0010c0025t0010g0250 a0010c0025t0010g0250	1	306	0.0033	c.156 others(4): Show c.1564C>T	p.Leu others(6): Show p.Leu522Phe	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/21	1910/2385	1564/1728	522/575	chr7	TogoVar
AOAH_chr7_36507941_36729494	36548633	A A	G G	missense_variant missense_variant	MODERATE	HG01243.hp1 HG01243.hp1	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0001 a0012c0019t0001	a0012c0019t0001g0041 a0012c0019t0001g0041	1	306	0.0033	c.111 others(4): Show c.1112T>C	p.Ile others(6): Show p.Ile371Thr	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	15/21	1458/2385	1112/1728	371/575	chr7	TogoVar
AOAH_chr7_36507941_36729494	36548649	C C	T T	missense_variant missense_variant	MODERATE	HG03490.hp1 HG03490.hp1	a0013 a0013	a0013c0024 a0013c0024	a0013c0024t0001 a0013c0024t0001	a0013c0024t0001g0186 a0013c0024t0001g0186	1	306	0.0033	c.109 others(4): Show c.1096G>A	p.Val others(6): Show p.Val366Ile	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	15/21	1442/2385	1096/1728	366/575	chr7	TogoVar
AOAH_chr7_36507941_36729494	36616421	G G	C C	missense_variant missense_variant	MODERATE	NA18949.hp1 NA18962.hp1 NA18949.hp1 NA18962.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0002 a0008c0015t0001 a0008c0015t0002	a0008c0015t0001g0290 a0008c0015t0002g0305 a0008c0015t0001g0290 a0008c0015t0002g0305	2	306	0.0065	c.805 others(3): Show c.805C>G	p.His others(6): Show p.His269Asp	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	11/21	1151/2385	805/1728	269/575	chr7	TogoVar
AOAH_chr7_36507941_36729494	36616429	G G	C C	missense_variant missense_variant	MODERATE	HG00642.hp2 HG01515.hp2 HG01516.hp1 others(10): Show HG00642.hp2 HG01515.hp2 HG01516.hp1 HG01978.hp2 HG02004.hp1 HG02083.hp2 HG02293.hp2 HG02300.hp2 HG03704.hp1 HG03704.hp2 NA18988.hp1 NA19007.hp1 NA20300.hp1	a0003 a0006 a0003 a0006	a0003c0008 a0003c0013 a0006c0010 a0003c0008 a0003c0013 a0006c0010	a0003c0008t0001 a0003c0008t0002 a0003c0008t0007 others(4): Show a0003c0008t0001 a0003c0008t0002 a0003c0008t0007 a0003c0013t0001 a0003c0013t0002 a0006c0010t0001 a0006c0010t0002	a0003c0008t0001g0040 a0003c0008t0001g0047 a0003c0008t0001g0136 others(10): Show a0003c0008t0001g0040 a0003c0008t0001g0047 a0003c0008t0001g0136 a0003c0008t0002g0032 a0003c0008t0007g0009 a0003c0013t0001g0303 a0003c0013t0002g0268 a0003c0013t0002g0274 a0006c0010t0001g0206 a0006c0010t0001g0229 a0006c0010t0001g0233 a0006c0010t0002g0204 a0006c0010t0002g0215	13	306	0.0425	c.797 others(3): Show c.797C>G	p.Ala others(6): Show p.Ala266Gly	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	11/21	1143/2385	797/1728	266/575	chr7	TogoVar
AOAH_chr7_36507941_36729494	36618320	G G	A A	missense_variant missense_variant	MODERATE	HG02040.hp2 HG03490.hp1 NA19091.hp1 HG02040.hp2 HG03490.hp1 NA19091.hp1	a0007 a0013 a0007 a0013	a0007c0016 a0007c0022 a0013c0024 a0007c0016 a0007c0022 a0013c0024	a0007c0016t0001 a0007c0022t0001 a0013c0024t0001 a0007c0016t0001 a0007c0022t0001 a0013c0024t0001	a0007c0016t0001g0012 a0007c0022t0001g0046 a0013c0024t0001g0186 a0007c0016t0001g0012 a0007c0022t0001g0046 a0013c0024t0001g0186	3	306	0.0098	c.728 others(3): Show c.728C>T	p.Pro others(6): Show p.Pro243Leu	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	10/21	1074/2385	728/1728	243/575	chr7	TogoVar
AOAH_chr7_36507941_36729494	36623237	A A	C C	missense_variant missense_variant	MODERATE	NA19054.hp2 NA19054.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0074 a0009c0017t0001g0074	1	306	0.0033	c.535 others(3): Show c.535T>G	p.Ser others(6): Show p.Ser179Ala	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	7/21	881/2385	535/1728	179/575	chr7	TogoVar
AOAH_chr7_36507941_36729494	36632061	C C	T T	missense_variant missense_variant	MODERATE	NA18747.hp1 NA18969.hp2 NA18984.hp2 others(4): Show NA18747.hp1 NA18969.hp2 NA18984.hp2 NA19062.hp2 NA19065.hp1 NA19081.hp2 NA19087.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0023 a0004c0005t0001g0062 a0004c0005t0001g0104 others(4): Show a0004c0005t0001g0023 a0004c0005t0001g0062 a0004c0005t0001g0104 a0004c0005t0001g0105 a0004c0005t0001g0106 a0004c0005t0001g0107 a0004c0005t0001g0111	7	306	0.0229	c.496 others(3): Show c.496G>A	p.Ala others(6): Show p.Ala166Thr	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	6/21	842/2385	496/1728	166/575	chr7	TogoVar
AOAH_chr7_36507941_36729494	36724052	G G	A A	missense_variant missense_variant	MODERATE	HG02895.hp1 HG02897.hp1 HG03098.hp1 others(3): Show HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03453.hp2 NA19240.hp1 NA20129.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0003 a0005c0006t0004g0004 a0005c0006t0004g0005 others(3): Show a0005c0006t0004g0003 a0005c0006t0004g0004 a0005c0006t0004g0005 a0005c0006t0004g0006 a0005c0006t0004g0007 a0005c0006t0004g0008	6	306	0.0196	c.97C others(2): Show c.97C>T	p.Pro others(5): Show p.Pro33Ser	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	1/21	443/2385	97/1728	33/575	chr7	TogoVar
AOAH_chr7_36507941_36729494	36724067	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp1 HG00423.hp2 others(81): Show HG00099.hp1 HG00140.hp1 HG00423.hp2 HG00621.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG02647.hp2 HG02735.hp2 HG02896.hp1 HG02965.hp2 HG03017.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG06807.hp1 NA18612.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp2 NA18960.hp2 NA18961.hp1 NA18965.hp2 NA18969.hp1 NA18972.hp1 NA18977.hp2 NA18984.hp1 NA18988.hp2 NA18991.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19076.hp1 NA19077.hp1 NA19081.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0002 a0006 a0013 a0002 a0006 a0013	a0002c0002 a0002c0004 a0006c0010 others(1): Show a0002c0002 a0002c0004 a0006c0010 a0013c0024	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(5): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0004t0001 a0006c0010t0001 a0006c0010t0002 a0013c0024t0001	a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0168 others(81): Show a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0214 a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0001g0231 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0002g0167 a0002c0002t0002g0174 a0002c0002t0002g0182 a0002c0002t0002g0189 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0216 a0002c0002t0002g0225 a0002c0002t0002g0230 a0002c0002t0002g0234 a0002c0002t0002g0239 a0002c0002t0002g0243 a0002c0002t0003g0164 a0002c0002t0009g0193 a0002c0004t0001g0205 a0002c0004t0001g0213 a0002c0004t0001g0217 a0002c0004t0001g0219 a0002c0004t0001g0221 a0002c0004t0001g0222 a0002c0004t0001g0223 a0002c0004t0001g0224 a0002c0004t0001g0226 a0002c0004t0001g0227 a0002c0004t0001g0228 a0002c0004t0001g0232 a0006c0010t0001g0206 a0006c0010t0001g0229 a0006c0010t0001g0233 a0006c0010t0002g0204 a0006c0010t0002g0215 a0013c0024t0001g0186	84	306	0.2745	c.82G others(2): Show c.82G>A	p.Asp others(5): Show p.Asp28Asn	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	1/21	428/2385	82/1728	28/575	chr7	TogoVar
AOAH_chr7_36507941_36729494	36724117	G G	A A	missense_variant missense_variant	MODERATE	HG01261.hp1 HG01261.hp1	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0001 a0014c0027t0001	a0014c0027t0001g0306 a0014c0027t0001g0306	1	306	0.0033	c.32C others(2): Show c.32C>T	p.Ala others(5): Show p.Ala11Val	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	1/21	378/2385	32/1728	11/575	chr7	TogoVar
AOC1_chr7_150847517_150866504	150856517	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00323.hp1 HG00423.hp2 others(108): Show HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01884.hp2 HG01943.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02074.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18957.hp1 NA18961.hp2 NA18963.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA19043.hp1 NA19062.hp2 NA19064.hp2 NA19074.hp1 NA19077.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp2	a0003 a0004 a0005 others(5): Show a0003 a0004 a0005 a0009 a0010 a0011 a0012 a0013	a0003c0004 a0003c0005 a0003c0007 others(13): Show a0003c0004 a0003c0005 a0003c0007 a0003c0015 a0003c0038 a0004c0008 a0004c0011 a0004c0012 a0004c0021 a0004c0035 a0005c0006 a0009c0034 a0010c0033 a0011c0039 a0012c0036 a0013c0037	a0003c0004t0002 a0003c0005t0002 a0003c0007t0003 others(15): Show a0003c0004t0002 a0003c0005t0002 a0003c0007t0003 a0003c0015t0003 a0003c0015t0005 a0003c0038t0002 a0004c0008t0001 a0004c0011t0004 a0004c0012t0001 a0004c0012t0004 a0004c0021t0001 a0004c0035t0001 a0005c0006t0004 a0009c0034t0001 a0010c0033t0002 a0011c0039t0005 a0012c0036t0003 a0013c0037t0004	a0003c0004t0002g0003 a0003c0004t0002g0014 a0003c0004t0002g0015 others(44): Show a0003c0004t0002g0003 a0003c0004t0002g0014 a0003c0004t0002g0015 a0003c0004t0002g0016 a0003c0004t0002g0040 a0003c0004t0002g0061 a0003c0004t0002g0067 a0003c0004t0002g0070 a0003c0005t0002g0003 a0003c0005t0002g0020 a0003c0007t0003g0004 a0003c0007t0003g0036 a0003c0007t0003g0039 a0003c0007t0003g0059 a0003c0007t0003g0060 a0003c0007t0003g0068 a0003c0015t0003g0004 a0003c0015t0005g0054 a0003c0038t0002g0124 a0004c0008t0001g0021 a0004c0008t0001g0022 a0004c0008t0001g0030 a0004c0008t0001g0064 a0004c0008t0001g0073 a0004c0008t0001g0121 a0004c0011t0004g0037 a0004c0011t0004g0138 a0004c0011t0004g0139 a0004c0011t0004g0140 a0004c0012t0001g0001 a0004c0012t0001g0013 a0004c0012t0001g0072 a0004c0012t0004g0069 a0004c0021t0001g0065 a0004c0021t0001g0066 a0004c0035t0001g0030 a0005c0006t0004g0008 a0005c0006t0004g0019 a0005c0006t0004g0029 a0005c0006t0004g0038 a0005c0006t0004g0062 a0005c0006t0004g0063 a0009c0034t0001g0141 a0010c0033t0002g0071 a0011c0039t0005g0110 a0012c0036t0003g0004 a0013c0037t0004g0137	111	420	0.2643	c.47C others(2): Show c.47C>T	p.Thr others(5): Show p.Thr16Met	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	2/5	105/2609	47/2256	16/751	chr7	TogoVar
AOC1_chr7_150847517_150866504	150856754	G G	A A	missense_variant missense_variant	MODERATE	HG03654.hp2 HG03654.hp2	a0009 a0009	a0009c0034 a0009c0034	a0009c0034t0001 a0009c0034t0001	a0009c0034t0001g0141 a0009c0034t0001g0141	1	420	0.0024	c.284 others(3): Show c.284G>A	p.Arg others(5): Show p.Arg95Gln	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	2/5	342/2609	284/2256	95/751	chr7	TogoVar
AOC1_chr7_150847517_150866504	150857024	C C	G G	missense_variant missense_variant	MODERATE	NA19009.hp1 NA19076.hp1 NA19009.hp1 NA19076.hp1	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0002 a0007c0020t0002	a0007c0020t0002g0009 a0007c0020t0002g0026 a0007c0020t0002g0009 a0007c0020t0002g0026	2	420	0.0048	c.554 others(3): Show c.554C>G	p.Thr others(6): Show p.Thr185Ser	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	2/5	612/2609	554/2256	185/751	chr7	TogoVar
AOC1_chr7_150847517_150866504	150857167	G G	A A	missense_variant missense_variant	MODERATE	HG02083.hp1 HG02083.hp1	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0001 a0014c0022t0001	a0014c0022t0001g0001 a0014c0022t0001g0001	1	420	0.0024	c.697 others(3): Show c.697G>A	p.Val others(6): Show p.Val233Met	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	2/5	755/2609	697/2256	233/751	chr7	TogoVar
AOC1_chr7_150847517_150866504	150857173	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01167.hp1	a0015 a0015	a0015c0031 a0015c0031	a0015c0031t0001 a0015c0031t0001	a0015c0031t0001g0107 a0015c0031t0001g0107	1	420	0.0024	c.703 others(3): Show c.703C>G	p.Gln others(6): Show p.Gln235Glu	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	2/5	761/2609	703/2256	235/751	chr7	TogoVar
AOC1_chr7_150847517_150866504	150857222	G G	A A	missense_variant missense_variant	MODERATE	HG01255.hp2 HG01255.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0001 a0016c0023t0001	a0016c0023t0001g0001 a0016c0023t0001g0001	1	420	0.0024	c.752 others(3): Show c.752G>A	p.Arg others(6): Show p.Arg251Gln	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	2/5	810/2609	752/2256	251/751	chr7	TogoVar
AOC1_chr7_150847517_150866504	150857306	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp2 HG03130.hp2	a0010 a0010	a0010c0033 a0010c0033	a0010c0033t0002 a0010c0033t0002	a0010c0033t0002g0071 a0010c0033t0002g0071	1	420	0.0024	c.836 others(3): Show c.836C>T	p.Pro others(6): Show p.Pro279Leu	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	2/5	894/2609	836/2256	279/751	chr7	TogoVar
AOC1_chr7_150847517_150866504	150857371	C C	T T	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00639.hp1	a0017 a0017	a0017c0030 a0017c0030	a0017c0030t0003 a0017c0030t0003	a0017c0030t0003g0047 a0017c0030t0003g0047	1	420	0.0024	c.901 others(3): Show c.901C>T	p.Arg others(6): Show p.Arg301Cys	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	2/5	959/2609	901/2256	301/751	chr7	TogoVar
AOC1_chr7_150847517_150866504	150857388	C C	G G	missense_variant missense_variant	MODERATE	HG02683.hp1 HG02683.hp1	a0013 a0013	a0013c0037 a0013c0037	a0013c0037t0004 a0013c0037t0004	a0013c0037t0004g0137 a0013c0037t0004g0137	1	420	0.0024	c.918 others(3): Show c.918C>G	p.His others(6): Show p.His306Gln	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	2/5	976/2609	918/2256	306/751	chr7	TogoVar
AOC1_chr7_150847517_150866504	150857441	T T	A A	missense_variant missense_variant	MODERATE	NA18952.hp2 NA18952.hp2	a0022 a0022	a0022c0024 a0022c0024	a0022c0024t0001 a0022c0024t0001	a0022c0024t0001g0001 a0022c0024t0001g0001	1	420	0.0024	c.971 others(3): Show c.971T>A	p.Phe others(6): Show p.Phe324Tyr	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	2/5	1029/2609	971/2256	324/751	chr7	TogoVar
AOC1_chr7_150847517_150866504	150857465	C C	T T	missense_variant missense_variant	MODERATE	HG00639.hp2 HG00735.hp1 HG00735.hp2 others(16): Show HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG02145.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02970.hp2 HG03130.hp1 HG03927.hp1 NA18522.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0008 a0005c0006t0004g0019 a0005c0006t0004g0029 others(3): Show a0005c0006t0004g0008 a0005c0006t0004g0019 a0005c0006t0004g0029 a0005c0006t0004g0038 a0005c0006t0004g0062 a0005c0006t0004g0063	19	420	0.0452	c.995 others(3): Show c.995C>T	p.Ser others(6): Show p.Ser332Phe	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	2/5	1053/2609	995/2256	332/751	chr7	TogoVar
AOC1_chr7_150847517_150866504	150857569	A A	T T	missense_variant missense_variant	MODERATE	NA20752.hp1 NA20752.hp1	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0001 a0018c0029t0001	a0018c0029t0001g0136 a0018c0029t0001g0136	1	420	0.0024	c.109 others(4): Show c.1099A>T	p.Met others(6): Show p.Met367Leu	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	2/5	1157/2609	1099/2256	367/751	chr7	TogoVar
AOC1_chr7_150847517_150866504	150857618	A A	G G	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00423.hp2	a0012 a0012	a0012c0036 a0012c0036	a0012c0036t0003 a0012c0036t0003	a0012c0036t0003g0004 a0012c0036t0003g0004	1	420	0.0024	c.114 others(4): Show c.1148A>G	p.His others(6): Show p.His383Arg	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	2/5	1206/2609	1148/2256	383/751	chr7	TogoVar

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