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
AMOT_chrX_112769877_112845831	112822346	G G	A A	missense_variant missense_variant	MODERATE	NA18747.hp1 NA18747.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0003 a0005c0010t0003	a0005c0010t0003g0127 a0005c0010t0003g0127	1	270	0.0037	c.781 others(3): Show c.781C>T	p.His others(6): Show p.His261Tyr	AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding	4/14	1449/7613	781/3255	261/1084	chrX	TogoVar
AMPD1_chr1_114668098_114700546	114673175	C C	T T	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0149 a0011c0015t0001g0149	1	358	0.0028	c.218 others(4): Show c.2183G>A	p.Arg others(6): Show p.Arg728His	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	16/16	2258/2335	2183/2244	728/747	chr1	TogoVar
AMPD1_chr1_114668098_114700546	114677373	T T	A A	missense_variant missense_variant	MODERATE	NA19005.hp2 NA19005.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0136 a0010c0018t0001g0136	1	358	0.0028	c.136 others(4): Show c.1366A>T	p.Met others(6): Show p.Met456Leu	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	10/16	1441/2335	1366/2244	456/747	chr1	TogoVar
AMPD1_chr1_114668098_114700546	114677465	C C	T T	missense_variant missense_variant	MODERATE	HG02155.hp2 HG02165.hp1 HG02155.hp2 HG02165.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0046 a0005c0008t0001g0046	2	358	0.0056	c.127 others(4): Show c.1274G>A	p.Arg others(6): Show p.Arg425His	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	10/16	1349/2335	1274/2244	425/747	chr1	TogoVar
AMPD1_chr1_114668098_114700546	114677951	C C	T T	missense_variant missense_variant	MODERATE	HG04115.hp2 HG04115.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0146 a0012c0012t0001g0146	1	358	0.0028	c.118 others(4): Show c.1183G>A	p.Asp others(6): Show p.Asp395Asn	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	9/16	1258/2335	1183/2244	395/747	chr1	TogoVar
AMPD1_chr1_114668098_114700546	114677972	G G	A A	missense_variant missense_variant	MODERATE	HG03195.hp1 NA19043.hp2 HG03195.hp1 NA19043.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0025 a0006c0010t0001g0025	2	358	0.0056	c.116 others(4): Show c.1162C>T	p.Arg others(6): Show p.Arg388Trp	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	9/16	1237/2335	1162/2244	388/747	chr1	TogoVar
AMPD1_chr1_114668098_114700546	114680338	T T	C C	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0001 a0009c0020t0001	a0009c0020t0001g0054 a0009c0020t0001g0054	1	358	0.0028	c.688 others(3): Show c.688A>G	p.Lys others(6): Show p.Lys230Glu	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	6/16	763/2335	688/2244	230/747	chr1	TogoVar
AMPD1_chr1_114668098_114700546	114680449	C C	T T	missense_variant missense_variant	MODERATE	HG02080.hp2 HG02129.hp1 HG02080.hp2 HG02129.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0165 a0007c0007t0001g0187 a0007c0007t0001g0165 a0007c0007t0001g0187	2	358	0.0056	c.577 others(3): Show c.577G>A	p.Asp others(6): Show p.Asp193Asn	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	6/16	652/2335	577/2244	193/747	chr1	TogoVar
AMPD1_chr1_114668098_114700546	114686792	C C	T T	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0164 a0008c0011t0001g0164	1	358	0.0028	c.334 others(3): Show c.334G>A	p.Val others(6): Show p.Val112Met	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	4/16	409/2335	334/2244	112/747	chr1	TogoVar
AMPD1_chr1_114668098_114700546	114686891	G G	A A	missense_variant missense_variant	MODERATE	HG03041.hp2 HG03041.hp2	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0001 a0013c0021t0001	a0013c0021t0001g0219 a0013c0021t0001g0219	1	358	0.0028	c.235 others(3): Show c.235C>T	p.Arg others(5): Show p.Arg79Trp	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	4/16	310/2335	235/2244	79/747	chr1	TogoVar
AMPD1_chr1_114668098_114700546	114686902	C C	T T	missense_variant missense_variant	MODERATE	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0045 a0004c0005t0001g0045	2	358	0.0056	c.224 others(3): Show c.224G>A	p.Arg others(5): Show p.Arg75His	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	4/16	299/2335	224/2244	75/747	chr1	TogoVar
AMPD1_chr1_114668098_114700546	114688633	G G	A A	missense_variant missense_variant	MODERATE	HG01123.hp2 HG01168.hp2 HG01358.hp1 others(4): Show HG01123.hp2 HG01168.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG03239.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0001 a0003c0004t0001 a0002c0003t0001 a0003c0004t0001	a0002c0003t0001g0053 a0002c0003t0001g0217 a0002c0003t0001g0218 others(1): Show a0002c0003t0001g0053 a0002c0003t0001g0217 a0002c0003t0001g0218 a0003c0004t0001g0018	7	358	0.0196	c.143 others(3): Show c.143C>T	p.Pro others(5): Show p.Pro48Leu	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	3/16	218/2335	143/2244	48/747	chr1	TogoVar
AMPD2_chr1_109614837_109637051	109621257	G G	A A	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00597.hp2 HG00621.hp1 others(91): Show HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG01099.hp2 HG01516.hp2 HG01517.hp2 HG01978.hp1 HG02027.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02155.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp2 NA18955.hp1 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18968.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19070.hp2 NA19072.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA20905.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0004 a0002c0007 others(1): Show a0002c0002 a0002c0004 a0002c0007 a0004c0006	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0013 a0002c0004t0002 a0002c0004t0004 a0002c0004t0005 a0002c0007t0002 a0004c0006t0002	a0002c0002t0001g0032 a0002c0002t0002g0003 a0002c0002t0002g0006 others(32): Show a0002c0002t0001g0032 a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0098 a0002c0002t0006g0003 a0002c0002t0006g0006 a0002c0002t0013g0053 a0002c0004t0002g0039 a0002c0004t0004g0079 a0002c0004t0005g0040 a0002c0004t0005g0041 a0002c0004t0005g0099 a0002c0004t0005g0100 a0002c0007t0002g0046 a0004c0006t0002g0042	94	388	0.2423	c.82G others(2): Show c.82G>A	p.Ala others(5): Show p.Ala28Thr	AMPD2	ENSG00000116337.20	transcript	ENST00000528667.7	protein_coding	2/19	786/4081	82/2478	28/825	chr1	TogoVar
AMPD2_chr1_109614837_109637051	109627822	G G	C C	missense_variant missense_variant	MODERATE	NA19065.hp2 NA19065.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0081 a0003c0009t0001g0081	1	388	0.0026	c.999 others(3): Show c.999G>C	p.Gln others(6): Show p.Gln333His	AMPD2	ENSG00000116337.20	transcript	ENST00000528667.7	protein_coding	10/19	1703/4081	999/2478	333/825	chr1	TogoVar
AMPD2_chr1_109614837_109637051	109628195	G G	A A	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0042 a0004c0006t0002g0042	1	388	0.0026	c.119 others(4): Show c.1193G>A	p.Arg others(6): Show p.Arg398His	AMPD2	ENSG00000116337.20	transcript	ENST00000528667.7	protein_coding	11/19	1897/4081	1193/2478	398/825	chr1	TogoVar
AMPD2_chr1_109614837_109637051	109628647	T T	G G	missense_variant missense_variant	MODERATE	NA19065.hp2 NA19065.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0081 a0003c0009t0001g0081	1	388	0.0026	c.141 others(4): Show c.1412T>G	p.Val others(6): Show p.Val471Gly	AMPD2	ENSG00000116337.20	transcript	ENST00000528667.7	protein_coding	13/19	2116/4081	1412/2478	471/825	chr1	TogoVar
AMPD3_chr11_10450264_10512579	10482189	C C	T T	missense_variant missense_variant	MODERATE	HG00323.hp2 HG01069.hp1 HG01071.hp2 others(3): Show HG00323.hp2 HG01069.hp1 HG01071.hp2 HG01123.hp1 HG02602.hp2 HG03831.hp2	a0003 a0003	a0003c0008 a0003c0009 a0003c0008 a0003c0009	a0003c0008t0009 a0003c0008t0019 a0003c0009t0005 others(1): Show a0003c0008t0009 a0003c0008t0019 a0003c0009t0005 a0003c0009t0009	a0003c0008t0009g0197 a0003c0008t0009g0198 a0003c0008t0019g0167 others(3): Show a0003c0008t0009g0197 a0003c0008t0009g0198 a0003c0008t0019g0167 a0003c0009t0005g0196 a0003c0009t0005g0203 a0003c0009t0009g0191	6	390	0.0154	c.553 others(3): Show c.553C>T	p.Arg others(6): Show p.Arg185Trp	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	4/15	743/4189	553/2304	185/767	chr11	TogoVar
AMPD3_chr11_10450264_10512579	10493476	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02615.hp2 HG01891.hp1 HG02615.hp2	a0005 a0005	a0005c0016 a0005c0017 a0005c0016 a0005c0017	a0005c0016t0005 a0005c0017t0001 a0005c0016t0005 a0005c0017t0001	a0005c0016t0005g0199 a0005c0017t0001g0341 a0005c0016t0005g0199 a0005c0017t0001g0341	2	390	0.0051	c.106 others(4): Show c.1067G>A	p.Arg others(6): Show p.Arg356Gln	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	7/15	1257/4189	1067/2304	356/767	chr11	TogoVar
AMPD3_chr11_10450264_10512579	10493490	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02717.hp2 HG02895.hp1 others(3): Show HG02630.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG03540.hp1 HG03540.hp2	a0004 a0010 a0004 a0010	a0004c0011 a0004c0014 a0004c0015 others(1): Show a0004c0011 a0004c0014 a0004c0015 a0010c0018	a0004c0011t0015 a0004c0014t0015 a0004c0014t0018 others(2): Show a0004c0011t0015 a0004c0014t0015 a0004c0014t0018 a0004c0015t0007 a0010c0018t0001	a0004c0011t0015g0017 a0004c0014t0015g0168 a0004c0014t0018g0169 others(2): Show a0004c0011t0015g0017 a0004c0014t0015g0168 a0004c0014t0018g0169 a0004c0015t0007g0174 a0010c0018t0001g0340	6	390	0.0154	c.108 others(4): Show c.1081G>A	p.Gly others(6): Show p.Gly361Ser	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	7/15	1271/4189	1081/2304	361/767	chr11	TogoVar
AMPD3_chr11_10450264_10512579	10495666	T T	C C	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02280.hp1 HG02572.hp1 others(10): Show HG02055.hp1 HG02280.hp1 HG02572.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03540.hp1 NA19030.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0006 a0002c0012 a0002c0020 others(5): Show a0002c0006 a0002c0012 a0002c0020 a0002c0024 a0004c0011 a0004c0014 a0004c0015 a0006c0019	a0002c0006t0005 a0002c0006t0012 a0002c0012t0008 others(8): Show a0002c0006t0005 a0002c0006t0012 a0002c0012t0008 a0002c0012t0026 a0002c0020t0018 a0002c0024t0010 a0004c0011t0015 a0004c0014t0015 a0004c0014t0018 a0004c0015t0007 a0006c0019t0013	a0002c0006t0005g0206 a0002c0006t0005g0207 a0002c0006t0012g0208 others(9): Show a0002c0006t0005g0206 a0002c0006t0005g0207 a0002c0006t0012g0208 a0002c0012t0008g0131 a0002c0012t0026g0040 a0002c0020t0018g0152 a0002c0024t0010g0042 a0004c0011t0015g0017 a0004c0014t0015g0168 a0004c0014t0018g0169 a0004c0015t0007g0174 a0006c0019t0013g0336	13	390	0.0333	c.136 others(4): Show c.1363T>C	p.Tyr others(6): Show p.Tyr455His	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	9/15	1553/4189	1363/2304	455/767	chr11	TogoVar
AMPD3_chr11_10450264_10512579	10501519	G G	A A	missense_variant missense_variant	MODERATE	HG02027.hp1 HG02717.hp1 HG02027.hp1 HG02717.hp1	a0006 a0009 a0006 a0009	a0006c0019 a0009c0021 a0006c0019 a0009c0021	a0006c0019t0013 a0009c0021t0001 a0006c0019t0013 a0009c0021t0001	a0006c0019t0013g0336 a0009c0021t0001g0004 a0006c0019t0013g0336 a0009c0021t0001g0004	2	390	0.0051	c.177 others(4): Show c.1771G>A	p.Gly others(6): Show p.Gly591Ser	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	12/15	1961/4189	1771/2304	591/767	chr11	TogoVar
AMPD3_chr11_10450264_10512579	10504654	C C	T T	missense_variant missense_variant	MODERATE	NA18991.hp2 NA18991.hp2	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0001 a0008c0022t0001	a0008c0022t0001g0247 a0008c0022t0001g0247	1	390	0.0026	c.212 others(4): Show c.2122C>T	p.His others(6): Show p.His708Tyr	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	14/15	2312/4189	2122/2304	708/767	chr11	TogoVar
AMPD3_chr11_10450264_10512579	10505865	T T	C C	missense_variant missense_variant	MODERATE	NA19007.hp1 NA19007.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0001 a0007c0023t0001	a0007c0023t0001g0228 a0007c0023t0001g0228	1	390	0.0026	c.228 others(4): Show c.2285T>C	p.Ile others(6): Show p.Ile762Thr	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	15/15	2475/4189	2285/2304	762/767	chr11	TogoVar
AMPH_chr7_38378704_38636373	38391768	G G	A A	missense_variant missense_variant	MODERATE	NA18962.hp2 NA18962.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0246 a0005c0013t0001g0246	1	288	0.0035	c.185 others(4): Show c.1858C>T	p.Pro others(6): Show p.Pro620Ser	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	19/21	1880/3224	1858/2088	620/695	chr7	TogoVar
AMPH_chr7_38378704_38636373	38391869	G G	A A	missense_variant missense_variant	MODERATE	NA20752.hp2 NA20752.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0005 a0006c0014t0005	a0006c0014t0005g0123 a0006c0014t0005g0123	1	288	0.0035	c.175 others(4): Show c.1757C>T	p.Thr others(6): Show p.Thr586Met	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	19/21	1779/3224	1757/2088	586/695	chr7	TogoVar
AMPH_chr7_38378704_38636373	38394126	T T	G G	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00558.hp1 HG00597.hp2 others(24): Show HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp2 HG01109.hp1 HG02071.hp1 HG02083.hp2 HG03669.hp2 HG04115.hp2 HG04204.hp2 NA18946.hp1 NA18951.hp1 NA18957.hp1 NA18963.hp2 NA18965.hp1 NA18971.hp2 NA18980.hp2 NA18982.hp1 NA18986.hp1 NA18988.hp2 NA19007.hp1 NA19011.hp2 NA19056.hp2 NA19057.hp2 NA19076.hp2 NA19088.hp2 NA20752.hp2	a0002 a0006 a0002 a0006	a0002c0004 a0002c0008 a0006c0014 a0002c0004 a0002c0008 a0006c0014	a0002c0004t0001 a0002c0004t0003 a0002c0004t0005 others(3): Show a0002c0004t0001 a0002c0004t0003 a0002c0004t0005 a0002c0008t0002 a0002c0008t0003 a0006c0014t0005	a0002c0004t0001g0167 a0002c0004t0003g0188 a0002c0004t0005g0029 others(24): Show a0002c0004t0001g0167 a0002c0004t0003g0188 a0002c0004t0005g0029 a0002c0004t0005g0051 a0002c0004t0005g0070 a0002c0004t0005g0100 a0002c0004t0005g0143 a0002c0004t0005g0150 a0002c0004t0005g0168 a0002c0004t0005g0175 a0002c0004t0005g0184 a0002c0004t0005g0193 a0002c0004t0005g0214 a0002c0004t0005g0243 a0002c0004t0005g0249 a0002c0004t0005g0251 a0002c0004t0005g0264 a0002c0004t0005g0265 a0002c0004t0005g0269 a0002c0008t0002g0111 a0002c0008t0002g0116 a0002c0008t0002g0134 a0002c0008t0002g0179 a0002c0008t0002g0181 a0002c0008t0002g0208 a0002c0008t0003g0187 a0006c0014t0005g0123	27	288	0.0938	c.148 others(4): Show c.1487A>C	p.Lys others(6): Show p.Lys496Thr	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	18/21	1509/3224	1487/2088	496/695	chr7	TogoVar
AMPH_chr7_38378704_38636373	38394163	C C	A A	missense_variant missense_variant	MODERATE	NA18906.hp2 NA18906.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0004 a0007c0018t0004	a0007c0018t0004g0140 a0007c0018t0004g0140	1	288	0.0035	c.145 others(4): Show c.1450G>T	p.Ala others(6): Show p.Ala484Ser	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	18/21	1472/3224	1450/2088	484/695	chr7	TogoVar
AMPH_chr7_38378704_38636373	38422465	A A	G G	missense_variant missense_variant	MODERATE	HG02056.hp1 HG02056.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0072 a0004c0011t0001g0072	1	288	0.0035	c.122 others(4): Show c.1228T>C	p.Ser others(6): Show p.Ser410Pro	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	16/21	1250/3224	1228/2088	410/695	chr7	TogoVar
AMPH_chr7_38378704_38636373	38436278	C C	G G	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02615.hp2 HG02622.hp2 others(8): Show HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02970.hp1 HG03130.hp1 HG03130.hp2 HG03471.hp2 HG03540.hp1 NA20129.hp2	a0003 a0003	a0003c0006 a0003c0010 a0003c0006 a0003c0010	a0003c0006t0003 a0003c0006t0004 a0003c0010t0002 a0003c0006t0003 a0003c0006t0004 a0003c0010t0002	a0003c0006t0003g0245 a0003c0006t0004g0004 a0003c0006t0004g0007 others(8): Show a0003c0006t0003g0245 a0003c0006t0004g0004 a0003c0006t0004g0007 a0003c0006t0004g0011 a0003c0006t0004g0061 a0003c0006t0004g0083 a0003c0006t0004g0084 a0003c0006t0004g0085 a0003c0006t0004g0088 a0003c0006t0004g0138 a0003c0010t0002g0046	11	288	0.0382	c.112 others(4): Show c.1128G>C	p.Met others(6): Show p.Met376Ile	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	12/21	1150/3224	1128/2088	376/695	chr7	TogoVar
AMPH_chr7_38378704_38636373	38462983	G G	A A	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02145.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0226 a0008c0015t0001g0226	1	288	0.0035	c.880 others(3): Show c.880C>T	p.Pro others(6): Show p.Pro294Ser	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	10/21	902/3224	880/2088	294/695	chr7	TogoVar
AMTN_chr4_70513569_70537743	70518820	C C	T T	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00423.hp1 HG00642.hp1 others(64): Show HG00323.hp2 HG00423.hp1 HG00642.hp1 HG00733.hp2 HG01109.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01515.hp2 HG01517.hp2 HG01943.hp1 HG02027.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02735.hp1 HG02738.hp2 HG03239.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp1 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18963.hp1 NA18965.hp1 NA18969.hp1 NA18975.hp1 NA18978.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19001.hp2 NA19010.hp2 NA19011.hp2 NA19059.hp1 NA19060.hp1 NA19072.hp2 NA19075.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0005 a0002c0003t0001 a0002c0003t0005	a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0010 others(20): Show a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0010 a0002c0003t0001g0012 a0002c0003t0001g0019 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0005g0004	67	458	0.1463	c.43C others(2): Show c.43C>T	p.Arg others(5): Show p.Arg15Trp	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	2/9	144/1009	43/630	15/209	chr4	TogoVar
AMTN_chr4_70513569_70537743	70518829	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0008 a0011c0013t0001g0008	1	458	0.0022	c.52C others(2): Show c.52C>T	p.Pro others(5): Show p.Pro18Ser	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	2/9	153/1009	52/630	18/209	chr4	TogoVar
AMTN_chr4_70513569_70537743	70522834	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00423.hp2 HG00438.hp1 others(57): Show HG00099.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01168.hp1 HG01169.hp1 HG02015.hp1 HG02071.hp2 HG02083.hp2 HG02155.hp2 HG02165.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG04115.hp1 HG04228.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18951.hp2 NA18956.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18969.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp2 NA18992.hp2 NA18995.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19076.hp2 NA19080.hp1 NA19082.hp2 NA19086.hp2 NA20805.hp1 NA20905.hp1	a0003 a0007 a0003 a0007	a0003c0004 a0003c0009 a0007c0008 a0003c0004 a0003c0009 a0007c0008	a0003c0004t0001 a0003c0009t0001 a0007c0008t0001 a0003c0004t0001 a0003c0009t0001 a0007c0008t0001	a0003c0004t0001g0003 a0003c0004t0001g0009 a0003c0004t0001g0016 others(15): Show a0003c0004t0001g0003 a0003c0004t0001g0009 a0003c0004t0001g0016 a0003c0004t0001g0034 a0003c0004t0001g0049 a0003c0004t0001g0050 a0003c0004t0001g0102 a0003c0004t0001g0103 a0003c0004t0001g0120 a0003c0004t0001g0121 a0003c0004t0001g0122 a0003c0004t0001g0123 a0003c0004t0001g0126 a0003c0004t0001g0127 a0003c0004t0001g0130 a0003c0004t0001g0146 a0003c0009t0001g0003 a0007c0008t0001g0045	60	458	0.1310	c.134 others(3): Show c.134A>G	p.Asn others(5): Show p.Asn45Ser	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	3/9	235/1009	134/630	45/209	chr4	TogoVar
AMTN_chr4_70513569_70537743	70523868	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00735.hp1 HG00735.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0001 a0008c0012t0001g0001	1	458	0.0022	c.139 others(3): Show c.139G>T	p.Val others(5): Show p.Val47Phe	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	4/9	240/1009	139/630	47/209	chr4	TogoVar
AMTN_chr4_70513569_70537743	70523877	T T	C C	missense_variant missense_variant	MODERATE	HG01192.hp1 HG02717.hp1 HG02922.hp1 others(5): Show HG01192.hp1 HG02717.hp1 HG02922.hp1 HG03669.hp2 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0002 a0004c0005t0001 a0004c0005t0002	a0004c0005t0001g0035 a0004c0005t0001g0051 a0004c0005t0001g0128 others(2): Show a0004c0005t0001g0035 a0004c0005t0001g0051 a0004c0005t0001g0128 a0004c0005t0001g0129 a0004c0005t0002g0117	8	458	0.0175	c.148 others(3): Show c.148T>C	p.Ser others(5): Show p.Ser50Pro	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	4/9	249/1009	148/630	50/209	chr4	TogoVar
AMTN_chr4_70513569_70537743	70524930	G G	A A	missense_variant missense_variant	MODERATE	HG01358.hp2 HG01358.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0068 a0009c0010t0001g0068	1	458	0.0022	c.263 others(3): Show c.263G>A	p.Gly others(5): Show p.Gly88Glu	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	5/9	364/1009	263/630	88/209	chr4	TogoVar
AMTN_chr4_70513569_70537743	70528753	G G	A A	missense_variant missense_variant	MODERATE	HG04228.hp2 NA20805.hp1 HG04228.hp2 NA20805.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0045 a0007c0008t0001g0045	2	458	0.0044	c.325 others(3): Show c.325G>A	p.Ala others(6): Show p.Ala109Thr	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	6/9	426/1009	325/630	109/209	chr4	TogoVar
AMTN_chr4_70513569_70537743	70531066	C C	T T	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02055.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0002	a0010c0011t0002g0116 a0010c0011t0002g0116	1	458	0.0022	c.385 others(3): Show c.385C>T	p.His others(6): Show p.His129Tyr	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	8/9	486/1009	385/630	129/209	chr4	TogoVar
AMTN_chr4_70513569_70537743	70531193	G G	A A	missense_variant missense_variant	MODERATE	NA18961.hp2 NA18973.hp2 NA18961.hp2 NA18973.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0005 a0006c0007t0002g0031 a0006c0007t0002g0005 a0006c0007t0002g0031	2	458	0.0044	c.512 others(3): Show c.512G>A	p.Arg others(6): Show p.Arg171His	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	8/9	613/1009	512/630	171/209	chr4	TogoVar
AMTN_chr4_70513569_70537743	70531211	G G	T T	missense_variant missense_variant	MODERATE	HG01243.hp1 HG02615.hp2 HG02818.hp2 HG01243.hp1 HG02615.hp2 HG02818.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0002 a0005c0006t0001g0014 a0005c0006t0001g0002 a0005c0006t0001g0014	3	458	0.0066	c.530 others(3): Show c.530G>T	p.Gly others(6): Show p.Gly177Val	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	8/9	631/1009	530/630	177/209	chr4	TogoVar
AMT_chr3_49411778_49427473	49417607	C C	T T	missense_variant missense_variant	MODERATE	HG02155.hp1 HG02155.hp1	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0001 a0009c0007t0001	a0009c0007t0001g0035 a0009c0007t0001g0035	1	358	0.0028	c.114 others(4): Show c.1145G>A	p.Arg others(6): Show p.Arg382Gln	AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding	9/9	1168/1997	1145/1212	382/403	chr3	TogoVar
AMT_chr3_49411778_49427473	49417655	G G	A A	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01069.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0021 a0008c0008t0001g0021	1	358	0.0028	c.109 others(4): Show c.1097C>T	p.Pro others(6): Show p.Pro366Leu	AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding	9/9	1120/1997	1097/1212	366/403	chr3	TogoVar
AMT_chr3_49411778_49427473	49417953	T T	C C	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0004 a0010c0009t0004	a0010c0009t0004g0018 a0010c0009t0004g0018	1	358	0.0028	c.898 others(3): Show c.898A>G	p.Met others(6): Show p.Met300Val	AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding	8/9	921/1997	898/1212	300/403	chr3	TogoVar
AMT_chr3_49411778_49427473	49419135	G G	T T	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02055.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0039 a0007c0010t0001g0039	1	358	0.0028	c.713 others(3): Show c.713C>A	p.Ala others(6): Show p.Ala238Glu	AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding	7/9	736/1997	713/1212	238/403	chr3	TogoVar
AMT_chr3_49411778_49427473	49419136	C C	T T	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02055.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0039 a0007c0010t0001g0039	1	358	0.0028	c.712 others(3): Show c.712G>A	p.Ala others(6): Show p.Ala238Thr	AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding	7/9	735/1997	712/1212	238/403	chr3	TogoVar
AMT_chr3_49411778_49427473	49419138	A A	T T	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02055.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0039 a0007c0010t0001g0039	1	358	0.0028	c.710 others(3): Show c.710T>A	p.Val others(6): Show p.Val237Glu	AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding	7/9	733/1997	710/1212	237/403	chr3	TogoVar
AMT_chr3_49411778_49427473	49419139	C C	T T	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02055.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0039 a0007c0010t0001g0039	1	358	0.0028	c.709 others(3): Show c.709G>A	p.Val others(6): Show p.Val237Ile	AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding	7/9	732/1997	709/1212	237/403	chr3	TogoVar
AMT_chr3_49411778_49427473	49419141	G G	A A	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02055.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0039 a0007c0010t0001g0039	1	358	0.0028	c.707 others(3): Show c.707C>T	p.Pro others(6): Show p.Pro236Leu	AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding	7/9	730/1997	707/1212	236/403	chr3	TogoVar
AMT_chr3_49411778_49427473	49419298	C C	T T	missense_variant missense_variant	MODERATE	NA18981.hp1 NA18981.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0031 a0006c0006t0001g0031	1	358	0.0028	c.658 others(3): Show c.658G>A	p.Val others(6): Show p.Val220Met	AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding	6/9	681/1997	658/1212	220/403	chr3	TogoVar
AMT_chr3_49411778_49427473	49419300	C C	T T	missense_variant missense_variant	MODERATE	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0019 a0005c0005t0001g0019	1	358	0.0028	c.656 others(3): Show c.656G>A	p.Arg others(6): Show p.Arg219His	AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding	6/9	679/1997	656/1212	219/403	chr3	TogoVar

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