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
AMOTL1_chr11_94763356_94881748	94859536	T T	C C	synonymous_variant synonymous_variant	LOW	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0038 a0001c0010t0038	a0001c0010t0038g0221 a0001c0010t0038g0221	1	246	0.0041	c.195 others(4): Show c.1956T>C	p.Asn others(6): Show p.Asn652Asn	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	9/13	2112/8980	1956/2871	652/956	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94864750	C C	T T	synonymous_variant synonymous_variant	LOW	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0010 a0001c0016t0010	a0001c0016t0010g0129 a0001c0016t0010g0129	1	246	0.0041	c.215 others(4): Show c.2151C>T	p.Ile others(6): Show p.Ile717Ile	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	10/13	2307/8980	2151/2871	717/956	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94869292	G G	A A	synonymous_variant synonymous_variant	LOW	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0006 a0001c0013t0006	a0001c0013t0006g0225 a0001c0013t0006g0225	1	246	0.0041	c.258 others(4): Show c.2583G>A	p.Thr others(6): Show p.Thr861Thr	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	12/13	2739/8980	2583/2871	861/956	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94869340	A A	G G	synonymous_variant synonymous_variant	LOW	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0179 a0001c0018t0001g0179	1	246	0.0041	c.263 others(4): Show c.2631A>G	p.Thr others(6): Show p.Thr877Thr	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	12/13	2787/8980	2631/2871	877/956	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94870735	C C	G G	synonymous_variant synonymous_variant	LOW	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0038 a0001c0010t0038	a0001c0010t0038g0221 a0001c0010t0038g0221	1	246	0.0041	c.281 others(4): Show c.2811C>G	p.Val others(6): Show p.Val937Val	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	13/13	2967/8980	2811/2871	937/956	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94870747	G G	A A	synonymous_variant synonymous_variant	LOW	HG00741.hp1 HG03098.hp1 HG00741.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0193 a0001c0006t0001g0213 a0001c0006t0001g0193 a0001c0006t0001g0213	2	246	0.0081	c.282 others(4): Show c.2823G>A	p.Leu others(6): Show p.Leu941Leu	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	13/13	2979/8980	2823/2871	941/956	chr11	TogoVar
AMOTL2_chr3_134350347_134379447	134358700	C C	T T	synonymous_variant synonymous_variant	LOW	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0006 a0001c0019t0006	a0001c0019t0006g0152 a0001c0019t0006g0152	1	336	0.0030	c.212 others(4): Show c.2124G>A	p.Glu others(6): Show p.Glu708Glu	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	9/10	2291/4868	2124/2343	708/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134360222	C C	T T	synonymous_variant synonymous_variant	LOW	HG00423.hp2 HG00597.hp2 HG00673.hp1 others(30): Show HG00423.hp2 HG00597.hp2 HG00673.hp1 HG01361.hp1 HG02040.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02523.hp2 HG03017.hp2 HG03704.hp1 HG03927.hp1 NA18612.hp2 NA18951.hp1 NA18960.hp1 NA18962.hp1 NA18974.hp1 NA18982.hp2 NA18988.hp2 NA18990.hp2 NA18994.hp1 NA19000.hp2 NA19004.hp2 NA19006.hp1 NA19010.hp1 NA19012.hp1 NA19060.hp1 NA19064.hp1 NA19074.hp1 NA19076.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2	a0001 a0003 a0017 a0001 a0003 a0017	a0001c0004 a0001c0025 a0003c0003 others(1): Show a0001c0004 a0001c0025 a0003c0003 a0017c0015	a0001c0004t0001 a0001c0025t0001 a0003c0003t0001 others(1): Show a0001c0004t0001 a0001c0025t0001 a0003c0003t0001 a0017c0015t0001	a0001c0004t0001g0006 a0001c0004t0001g0012 a0001c0004t0001g0018 others(5): Show a0001c0004t0001g0006 a0001c0004t0001g0012 a0001c0004t0001g0018 a0001c0025t0001g0057 a0003c0003t0001g0003 a0003c0003t0001g0017 a0003c0003t0001g0056 a0017c0015t0001g0053	33	336	0.0982	c.176 others(4): Show c.1767G>A	p.Thr others(6): Show p.Thr589Thr	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	7/10	1934/4868	1767/2343	589/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134361725	A A	G G	synonymous_variant synonymous_variant	LOW	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0007 a0001c0017t0007	a0001c0017t0007g0077 a0001c0017t0007g0077	1	336	0.0030	c.136 others(4): Show c.1362T>C	p.Arg others(6): Show p.Arg454Arg	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	6/10	1529/4868	1362/2343	454/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134365857	C C	T T	synonymous_variant synonymous_variant	LOW	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0073 a0001c0016t0001g0073	1	336	0.0030	c.123 others(4): Show c.1239G>A	p.Gln others(6): Show p.Gln413Gln	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	5/10	1406/4868	1239/2343	413/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134367698	G G	A A	synonymous_variant synonymous_variant	LOW	HG00735.hp2 HG01496.hp1 HG01884.hp1 others(11): Show HG00735.hp2 HG01496.hp1 HG01884.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03139.hp1 HG03516.hp1 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0008 a0001c0005t0009 others(2): Show a0001c0005t0004 a0001c0005t0008 a0001c0005t0009 a0001c0005t0011 a0001c0005t0023	a0001c0005t0004g0144 a0001c0005t0008g0008 a0001c0005t0008g0130 others(6): Show a0001c0005t0004g0144 a0001c0005t0008g0008 a0001c0005t0008g0130 a0001c0005t0008g0131 a0001c0005t0009g0129 a0001c0005t0011g0126 a0001c0005t0011g0143 a0001c0005t0011g0145 a0001c0005t0023g0062	14	336	0.0417	c.840 others(3): Show c.840C>T	p.Leu others(6): Show p.Leu280Leu	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	3/10	1007/4868	840/2343	280/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134370732	G G	A A	synonymous_variant synonymous_variant	LOW	HG02622.hp1 HG02896.hp1 HG02897.hp1 others(2): Show HG02622.hp1 HG02896.hp1 HG02897.hp1 HG03209.hp2 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0039 a0001c0008t0006g0040 a0001c0008t0006g0147 a0001c0008t0006g0039 a0001c0008t0006g0040 a0001c0008t0006g0147	5	336	0.0149	c.702 others(3): Show c.702C>T	p.Arg others(6): Show p.Arg234Arg	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	2/10	869/4868	702/2343	234/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134371368	G G	A A	synonymous_variant synonymous_variant	LOW	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0057 a0001c0025t0001g0057	1	336	0.0030	c.66C others(2): Show c.66C>T	p.Tyr others(5): Show p.Tyr22Tyr	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	2/10	233/4868	66/2343	22/780	chr3	TogoVar
AMOT_chrX_112769877_112845831	112779208	C C	T T	synonymous_variant synonymous_variant	LOW	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0106 a0001c0008t0001g0106	1	270	0.0037	c.294 others(4): Show c.2946G>A	p.Pro others(6): Show p.Pro982Pro	AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding	13/14	3614/7613	2946/3255	982/1084	chrX	TogoVar
AMOT_chrX_112769877_112845831	112780929	G G	T T	synonymous_variant synonymous_variant	LOW	HG00408.hp1 HG00642.hp1 HG00738.hp1 others(52): Show HG00408.hp1 HG00642.hp1 HG00738.hp1 HG01071.hp1 HG01099.hp1 HG01346.hp2 HG01934.hp1 HG01975.hp1 HG01993.hp2 HG02080.hp2 HG02109.hp2 HG02165.hp2 HG02280.hp1 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02886.hp1 HG02970.hp1 HG03041.hp1 HG03453.hp2 HG03490.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG06807.hp1 NA18612.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18978.hp1 NA18989.hp1 NA18994.hp1 NA18999.hp2 NA19003.hp2 NA19011.hp2 NA19062.hp1 NA19074.hp2 NA19077.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0017 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0017 a0001c0002t0018 a0001c0002t0031 a0001c0004t0002	a0001c0002t0001g0122 a0001c0002t0001g0225 a0001c0002t0002g0002 others(50): Show a0001c0002t0001g0122 a0001c0002t0001g0225 a0001c0002t0002g0002 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0045 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0070 a0001c0002t0002g0075 a0001c0002t0002g0084 a0001c0002t0002g0110 a0001c0002t0002g0115 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0002t0002g0123 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0158 a0001c0002t0002g0183 a0001c0002t0002g0190 a0001c0002t0002g0198 a0001c0002t0002g0211 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0239 a0001c0002t0002g0241 a0001c0002t0002g0245 a0001c0002t0002g0254 a0001c0002t0017g0124 a0001c0002t0017g0142 a0001c0002t0018g0031 a0001c0002t0031g0210 a0001c0004t0002g0015 a0001c0004t0002g0085 a0001c0004t0002g0149 a0001c0004t0002g0150 a0001c0004t0002g0157 a0001c0004t0002g0227 a0001c0004t0002g0230 a0001c0004t0002g0236	55	270	0.2037	c.243 others(4): Show c.2430C>A	p.Ile others(6): Show p.Ile810Ile	AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding	12/14	3098/7613	2430/3255	810/1084	chrX	TogoVar
AMOT_chrX_112769877_112845831	112781019	C C	T T	synonymous_variant synonymous_variant	LOW	HG02615.hp1 HG02886.hp2 HG03453.hp1 HG02615.hp1 HG02886.hp2 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0019 a0001c0005t0008g0159 a0001c0005t0008g0160 a0001c0005t0008g0019 a0001c0005t0008g0159 a0001c0005t0008g0160	3	270	0.0111	c.234 others(4): Show c.2340G>A	p.Ser others(6): Show p.Ser780Ser	AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding	12/14	3008/7613	2340/3255	780/1084	chrX	TogoVar
AMOT_chrX_112769877_112845831	112809910	C C	T T	synonymous_variant synonymous_variant	LOW	HG02109.hp2 HG02572.hp1 HG02622.hp1 others(5): Show HG02109.hp2 HG02572.hp1 HG02622.hp1 HG02886.hp1 HG02970.hp1 HG03041.hp1 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0015 a0001c0004t0002g0085 a0001c0004t0002g0149 others(5): Show a0001c0004t0002g0015 a0001c0004t0002g0085 a0001c0004t0002g0149 a0001c0004t0002g0150 a0001c0004t0002g0157 a0001c0004t0002g0227 a0001c0004t0002g0230 a0001c0004t0002g0236	8	270	0.0296	c.161 others(4): Show c.1614G>A	p.Ser others(6): Show p.Ser538Ser	AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding	7/14	2282/7613	1614/3255	538/1084	chrX	TogoVar
AMOT_chrX_112769877_112845831	112815802	A A	G G	synonymous_variant synonymous_variant	LOW	HG03130.hp1 HG03209.hp1 HG03130.hp1 HG03209.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0022 a0001c0007t0004 a0001c0007t0022	a0001c0007t0004g0027 a0001c0007t0022g0082 a0001c0007t0004g0027 a0001c0007t0022g0082	2	270	0.0074	c.948 others(3): Show c.948T>C	p.Ser others(6): Show p.Ser316Ser	AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding	5/14	1616/7613	948/3255	316/1084	chrX	TogoVar
AMPD1_chr1_114668098_114700546	114673936	A A	G G	synonymous_variant synonymous_variant	LOW	HG02615.hp2 HG03139.hp1 HG02615.hp2 HG03139.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0113 a0001c0009t0001g0125 a0001c0009t0001g0113 a0001c0009t0001g0125	2	358	0.0056	c.194 others(4): Show c.1947T>C	p.Asp others(6): Show p.Asp649Asp	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	14/16	2022/2335	1947/2244	649/747	chr1	TogoVar
AMPD1_chr1_114668098_114700546	114673960	C C	A A	synonymous_variant synonymous_variant	LOW	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0154 a0001c0016t0001g0154	1	358	0.0028	c.192 others(4): Show c.1923G>T	p.Gly others(6): Show p.Gly641Gly	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	14/16	1998/2335	1923/2244	641/747	chr1	TogoVar
AMPD1_chr1_114668098_114700546	114673972	G G	A A	synonymous_variant synonymous_variant	LOW	HG02451.hp2 HG02451.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0164 a0008c0011t0001g0164	1	358	0.0028	c.191 others(4): Show c.1911C>T	p.Phe others(6): Show p.Phe637Phe	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	14/16	1986/2335	1911/2244	637/747	chr1	TogoVar
AMPD1_chr1_114668098_114700546	114674038	G G	A A	synonymous_variant synonymous_variant	LOW	HG02451.hp2 HG02451.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0164 a0008c0011t0001g0164	1	358	0.0028	c.184 others(4): Show c.1845C>T	p.Ile others(6): Show p.Ile615Ile	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	14/16	1920/2335	1845/2244	615/747	chr1	TogoVar
AMPD1_chr1_114668098_114700546	114675919	G G	A A	synonymous_variant synonymous_variant	LOW	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0200 a0001c0017t0001g0200	1	358	0.0028	c.147 others(4): Show c.1473C>T	p.Ile others(6): Show p.Ile491Ile	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	11/16	1548/2335	1473/2244	491/747	chr1	TogoVar
AMPD1_chr1_114668098_114700546	114675928	C C	T T	synonymous_variant synonymous_variant	LOW	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0123 a0001c0014t0001g0123	1	358	0.0028	c.146 others(4): Show c.1464G>A	p.Glu others(6): Show p.Glu488Glu	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	11/16	1539/2335	1464/2244	488/747	chr1	TogoVar
AMPD1_chr1_114668098_114700546	114677943	G G	A A	synonymous_variant synonymous_variant	LOW	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0132 a0001c0019t0001g0132	1	358	0.0028	c.119 others(4): Show c.1191C>T	p.Tyr others(6): Show p.Tyr397Tyr	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	9/16	1266/2335	1191/2244	397/747	chr1	TogoVar
AMPD1_chr1_114668098_114700546	114677946	A A	G G	synonymous_variant synonymous_variant	LOW	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0071 a0001c0013t0001g0071	1	358	0.0028	c.118 others(4): Show c.1188T>C	p.Asn others(6): Show p.Asn396Asn	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	9/16	1263/2335	1188/2244	396/747	chr1	TogoVar
AMPD1_chr1_114668098_114700546	114680474	A A	G G	synonymous_variant synonymous_variant	LOW	HG01891.hp1 HG02572.hp2 HG01891.hp1 HG02572.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0049 a0001c0006t0001g0049	2	358	0.0056	c.552 others(3): Show c.552T>C	p.Phe others(6): Show p.Phe184Phe	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	6/16	627/2335	552/2244	184/747	chr1	TogoVar
AMPD1_chr1_114668098_114700546	114686883	A A	C C	synonymous_variant synonymous_variant	LOW	HG02559.hp1 HG02572.hp1 HG03209.hp1 others(1): Show HG02559.hp1 HG02572.hp1 HG03209.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 others(1): Show a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159	4	358	0.0112	c.243 others(3): Show c.243T>G	p.Thr others(5): Show p.Thr81Thr	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	4/16	318/2335	243/2244	81/747	chr1	TogoVar
AMPD2_chr1_109614837_109637051	109626902	T T	G G	synonymous_variant synonymous_variant	LOW	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0007 a0001c0008t0001g0007	1	388	0.0026	c.708 others(3): Show c.708T>G	p.Pro others(6): Show p.Pro236Pro	AMPD2	ENSG00000116337.20	transcript	ENST00000528667.7	protein_coding	7/19	1412/4081	708/2478	236/825	chr1	TogoVar
AMPD2_chr1_109614837_109637051	109627480	C C	T T	synonymous_variant synonymous_variant	LOW	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0036 a0001c0011t0001g0036	1	388	0.0026	c.912 others(3): Show c.912C>T	p.Asp others(6): Show p.Asp304Asp	AMPD2	ENSG00000116337.20	transcript	ENST00000528667.7	protein_coding	9/19	1616/4081	912/2478	304/825	chr1	TogoVar
AMPD2_chr1_109614837_109637051	109628106	G G	A A	synonymous_variant synonymous_variant	LOW	HG02698.hp1 HG02809.hp2 HG03471.hp1 others(3): Show HG02698.hp1 HG02809.hp2 HG03471.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0007 a0001c0005t0001g0012 a0001c0005t0001g0074 a0001c0005t0001g0007 a0001c0005t0001g0012 a0001c0005t0001g0074	6	388	0.0155	c.110 others(4): Show c.1104G>A	p.Ser others(6): Show p.Ser368Ser	AMPD2	ENSG00000116337.20	transcript	ENST00000528667.7	protein_coding	11/19	1808/4081	1104/2478	368/825	chr1	TogoVar
AMPD2_chr1_109614837_109637051	109628274	T T	C C	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(324): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0001c0008 others(5): Show a0001c0001 a0001c0005 a0001c0008 a0001c0010 a0001c0011 a0002c0002 a0003c0009 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0005t0001 a0001c0008t0001 a0001c0010t0001 a0001c0011t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0013 a0003c0009t0001 a0004c0006t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(87): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0003g0038 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0007g0001 a0001c0001t0008g0072 a0001c0001t0009g0002 a0001c0001t0010g0028 a0001c0001t0011g0005 a0001c0001t0012g0023 a0001c0005t0001g0007 a0001c0005t0001g0012 a0001c0005t0001g0074 a0001c0008t0001g0007 a0001c0010t0001g0002 a0001c0011t0001g0036 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 a0003c0009t0001g0081 a0004c0006t0002g0042	327	388	0.8428	c.127 others(4): Show c.1272T>C	p.His others(6): Show p.His424His	AMPD2	ENSG00000116337.20	transcript	ENST00000528667.7	protein_coding	11/19	1976/4081	1272/2478	424/825	chr1	TogoVar
AMPD2_chr1_109614837_109637051	109630331	G G	C C	synonymous_variant synonymous_variant	LOW	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0002 a0001c0010t0001g0002	1	388	0.0026	c.208 others(4): Show c.2082G>C	p.Pro others(6): Show p.Pro694Pro	AMPD2	ENSG00000116337.20	transcript	ENST00000528667.7	protein_coding	17/19	2786/4081	2082/2478	694/825	chr1	TogoVar
AMPD2_chr1_109614837_109637051	109631149	A A	G G	synonymous_variant synonymous_variant	LOW	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0046 a0002c0007t0002g0046	1	388	0.0026	c.247 others(4): Show c.2475A>G	p.Gln others(6): Show p.Gln825Gln	AMPD2	ENSG00000116337.20	transcript	ENST00000528667.7	protein_coding	19/19	3179/4081	2475/2478	825/825	chr1	TogoVar
AMPD3_chr11_10450264_10512579	10478727	C C	T T	synonymous_variant synonymous_variant	LOW	NA18974.hp2 NA18985.hp1 NA18991.hp1 others(2): Show NA18974.hp2 NA18985.hp1 NA18991.hp1 NA19055.hp1 NA19085.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0212 a0001c0005t0001g0215 a0001c0005t0001g0221 others(2): Show a0001c0005t0001g0212 a0001c0005t0001g0215 a0001c0005t0001g0221 a0001c0005t0001g0223 a0001c0005t0001g0253	5	390	0.0128	c.423 others(3): Show c.423C>T	p.Ala others(6): Show p.Ala141Ala	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	3/15	613/4189	423/2304	141/767	chr11	TogoVar
AMPD3_chr11_10450264_10512579	10482209	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00280.hp2 HG00639.hp1 others(42): Show HG00099.hp2 HG00280.hp2 HG00639.hp1 HG00741.hp1 HG01243.hp1 HG01257.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG02257.hp1 HG02280.hp1 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0003 a0001c0010 a0001c0013 others(5): Show a0001c0003 a0001c0010 a0001c0013 a0002c0006 a0002c0012 a0004c0011 a0004c0015 a0005c0016	a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 others(20): Show a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0010 a0001c0003t0012 a0001c0003t0014 a0001c0003t0016 a0001c0003t0017 a0001c0003t0021 a0001c0003t0023 a0001c0010t0005 a0001c0010t0009 a0001c0013t0010 a0001c0013t0011 a0002c0006t0005 a0002c0006t0012 a0002c0012t0008 a0002c0012t0026 a0004c0011t0015 a0004c0015t0007 a0005c0016t0005	a0001c0003t0002g0091 a0001c0003t0003g0032 a0001c0003t0003g0137 others(38): Show a0001c0003t0002g0091 a0001c0003t0003g0032 a0001c0003t0003g0137 a0001c0003t0003g0205 a0001c0003t0004g0003 a0001c0003t0004g0023 a0001c0003t0004g0170 a0001c0003t0004g0173 a0001c0003t0004g0177 a0001c0003t0005g0128 a0001c0003t0005g0129 a0001c0003t0005g0181 a0001c0003t0005g0182 a0001c0003t0005g0185 a0001c0003t0005g0192 a0001c0003t0005g0193 a0001c0003t0005g0194 a0001c0003t0005g0195 a0001c0003t0005g0355 a0001c0003t0007g0172 a0001c0003t0010g0171 a0001c0003t0012g0187 a0001c0003t0012g0189 a0001c0003t0014g0007 a0001c0003t0016g0201 a0001c0003t0017g0186 a0001c0003t0017g0188 a0001c0003t0021g0200 a0001c0003t0023g0003 a0001c0010t0005g0202 a0001c0010t0009g0180 a0001c0013t0010g0175 a0001c0013t0011g0178 a0002c0006t0005g0206 a0002c0006t0005g0207 a0002c0006t0012g0208 a0002c0012t0008g0131 a0002c0012t0026g0040 a0004c0011t0015g0017 a0004c0015t0007g0174 a0005c0016t0005g0199	45	390	0.1154	c.573 others(3): Show c.573G>A	p.Pro others(6): Show p.Pro191Pro	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	4/15	763/4189	573/2304	191/767	chr11	TogoVar
AMPD3_chr11_10450264_10512579	10484899	C C	T T	synonymous_variant synonymous_variant	LOW	HG01891.hp1 HG02280.hp1 HG02572.hp1 others(5): Show HG01891.hp1 HG02280.hp1 HG02572.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03139.hp1 HG03195.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0013 a0002c0012 a0002c0024 others(2): Show a0001c0013 a0002c0012 a0002c0024 a0004c0011 a0005c0016	a0001c0013t0010 a0001c0013t0011 a0002c0012t0008 others(4): Show a0001c0013t0010 a0001c0013t0011 a0002c0012t0008 a0002c0012t0026 a0002c0024t0010 a0004c0011t0015 a0005c0016t0005	a0001c0013t0010g0175 a0001c0013t0011g0178 a0002c0012t0008g0131 others(4): Show a0001c0013t0010g0175 a0001c0013t0011g0178 a0002c0012t0008g0131 a0002c0012t0026g0040 a0002c0024t0010g0042 a0004c0011t0015g0017 a0005c0016t0005g0199	8	390	0.0205	c.669 others(3): Show c.669C>T	p.His others(6): Show p.His223His	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	5/15	859/4189	669/2304	223/767	chr11	TogoVar
AMPD3_chr11_10450264_10512579	10493369	G G	A A	synonymous_variant synonymous_variant	LOW	NA18969.hp2 NA18994.hp2 NA19000.hp2 others(3): Show NA18969.hp2 NA18994.hp2 NA19000.hp2 NA19064.hp2 NA19079.hp2 NA19085.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0211 a0001c0004t0001g0213 a0001c0004t0001g0234 others(3): Show a0001c0004t0001g0211 a0001c0004t0001g0213 a0001c0004t0001g0234 a0001c0004t0001g0285 a0001c0004t0001g0288 a0001c0004t0001g0308	6	390	0.0154	c.960 others(3): Show c.960G>A	p.Ala others(6): Show p.Ala320Ala	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	7/15	1150/4189	960/2304	320/767	chr11	TogoVar
AMPD3_chr11_10450264_10512579	10493540	C C	T T	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02717.hp2 HG02895.hp1 others(2): Show HG02630.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG03540.hp1	a0004 a0004	a0004c0011 a0004c0014 a0004c0015 a0004c0011 a0004c0014 a0004c0015	a0004c0011t0015 a0004c0014t0015 a0004c0014t0018 others(1): Show a0004c0011t0015 a0004c0014t0015 a0004c0014t0018 a0004c0015t0007	a0004c0011t0015g0017 a0004c0014t0015g0168 a0004c0014t0018g0169 others(1): Show a0004c0011t0015g0017 a0004c0014t0015g0168 a0004c0014t0018g0169 a0004c0015t0007g0174	5	390	0.0128	c.113 others(4): Show c.1131C>T	p.His others(6): Show p.His377His	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	7/15	1321/4189	1131/2304	377/767	chr11	TogoVar
AMPD3_chr11_10450264_10512579	10500202	C C	T T	synonymous_variant synonymous_variant	LOW	HG01106.hp2 HG02738.hp2 NA20805.hp2 HG01106.hp2 HG02738.hp2 NA20805.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0002 a0001c0007t0001 a0001c0007t0002	a0001c0007t0001g0334 a0001c0007t0002g0034 a0001c0007t0002g0126 a0001c0007t0001g0334 a0001c0007t0002g0034 a0001c0007t0002g0126	3	390	0.0077	c.167 others(4): Show c.1674C>T	p.Tyr others(6): Show p.Tyr558Tyr	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	11/15	1864/4189	1674/2304	558/767	chr11	TogoVar
AMPD3_chr11_10450264_10512579	10500217	T T	C C	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(142): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01928.hp2 HG01943.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG03017.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0009	a0001c0002 a0001c0004 a0001c0005 others(4): Show a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0003c0008 a0008c0022 a0009c0021	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(13): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0019 a0001c0002t0028 a0001c0002t0029 a0001c0004t0001 a0001c0005t0001 a0001c0010t0005 a0001c0010t0009 a0003c0008t0009 a0003c0008t0019 a0008c0022t0001 a0009c0021t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0009 others(130): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0009 a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0071 a0001c0002t0001g0080 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0229 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0251 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0261 a0001c0002t0001g0263 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0286 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0304 a0001c0002t0001g0307 a0001c0002t0001g0309 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0314 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0325 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0343 a0001c0002t0001g0346 a0001c0002t0001g0350 a0001c0002t0001g0354 a0001c0002t0002g0033 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0095 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0109 a0001c0002t0002g0115 a0001c0002t0002g0119 a0001c0002t0002g0179 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0134 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0145 a0001c0002t0003g0151 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0159 a0001c0002t0006g0005 a0001c0002t0006g0052 a0001c0002t0006g0053 a0001c0002t0006g0064 a0001c0002t0006g0065 a0001c0002t0006g0075 a0001c0002t0006g0077 a0001c0002t0006g0306 a0001c0002t0006g0324 a0001c0002t0008g0022 a0001c0002t0019g0148 a0001c0002t0028g0098 a0001c0002t0029g0118 a0001c0004t0001g0211 a0001c0004t0001g0213 a0001c0004t0001g0234 a0001c0004t0001g0285 a0001c0004t0001g0288 a0001c0004t0001g0308 a0001c0005t0001g0212 a0001c0005t0001g0215 a0001c0005t0001g0221 a0001c0005t0001g0223 a0001c0005t0001g0253 a0001c0010t0005g0202 a0001c0010t0009g0180 a0003c0008t0009g0197 a0003c0008t0009g0198 a0003c0008t0019g0167 a0008c0022t0001g0247 a0009c0021t0001g0004	145	390	0.3718	c.168 others(4): Show c.1689T>C	p.Tyr others(6): Show p.Tyr563Tyr	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding	11/15	1879/4189	1689/2304	563/767	chr11	TogoVar
AMPH_chr7_38378704_38636373	38384881	C C	T T	synonymous_variant synonymous_variant	LOW	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0080 a0001c0017t0004g0080	1	288	0.0035	c.202 others(4): Show c.2025G>A	p.Gln others(6): Show p.Gln675Gln	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	21/21	2047/3224	2025/2088	675/695	chr7	TogoVar
AMPH_chr7_38378704_38636373	38391814	C C	T T	synonymous_variant synonymous_variant	LOW	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0107 a0001c0012t0005g0107	1	288	0.0035	c.181 others(4): Show c.1812G>A	p.Gly others(6): Show p.Gly604Gly	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	19/21	1834/3224	1812/2088	604/695	chr7	TogoVar
AMPH_chr7_38378704_38636373	38391829	A A	G G	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00438.hp2 HG00558.hp1 others(25): Show HG00140.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp2 HG01109.hp1 HG01358.hp2 HG01496.hp1 HG01981.hp2 HG02056.hp2 HG02071.hp1 HG02165.hp2 HG03669.hp2 HG04115.hp2 HG04204.hp2 NA18946.hp1 NA18963.hp2 NA18965.hp1 NA18971.hp2 NA18982.hp1 NA18988.hp2 NA19011.hp2 NA19056.hp2 NA19057.hp2 NA19076.hp2 NA19084.hp1 NA19088.hp1 NA20752.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0007 a0002c0004 a0006c0014 a0001c0007 a0002c0004 a0006c0014	a0001c0007t0001 a0001c0007t0005 a0001c0007t0008 others(4): Show a0001c0007t0001 a0001c0007t0005 a0001c0007t0008 a0002c0004t0001 a0002c0004t0003 a0002c0004t0005 a0006c0014t0005	a0001c0007t0001g0090 a0001c0007t0005g0076 a0001c0007t0005g0104 others(25): Show a0001c0007t0001g0090 a0001c0007t0005g0076 a0001c0007t0005g0104 a0001c0007t0005g0105 a0001c0007t0005g0222 a0001c0007t0005g0229 a0001c0007t0005g0263 a0001c0007t0008g0283 a0002c0004t0001g0167 a0002c0004t0003g0188 a0002c0004t0005g0029 a0002c0004t0005g0051 a0002c0004t0005g0070 a0002c0004t0005g0100 a0002c0004t0005g0143 a0002c0004t0005g0150 a0002c0004t0005g0168 a0002c0004t0005g0175 a0002c0004t0005g0184 a0002c0004t0005g0193 a0002c0004t0005g0214 a0002c0004t0005g0243 a0002c0004t0005g0249 a0002c0004t0005g0251 a0002c0004t0005g0264 a0002c0004t0005g0265 a0002c0004t0005g0269 a0006c0014t0005g0123	28	288	0.0972	c.179 others(4): Show c.1797T>C	p.Ser others(6): Show p.Ser599Ser	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	19/21	1819/3224	1797/2088	599/695	chr7	TogoVar
AMPH_chr7_38378704_38636373	38391835	C C	T T	synonymous_variant synonymous_variant	LOW	HG00280.hp2 HG00621.hp2 HG00642.hp1 others(55): Show HG00280.hp2 HG00621.hp2 HG00642.hp1 HG00733.hp2 HG01070.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01517.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02135.hp2 HG02155.hp1 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG04184.hp2 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18945.hp1 NA18965.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18995.hp2 NA18999.hp1 NA19002.hp2 NA19009.hp2 NA19057.hp1 NA19060.hp1 NA20300.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0010 a0001c0002 a0001c0003 a0003c0010	a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 others(2): Show a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0003c0010t0002	a0001c0002t0002g0008 a0001c0002t0002g0021 a0001c0002t0002g0025 others(55): Show a0001c0002t0002g0008 a0001c0002t0002g0021 a0001c0002t0002g0025 a0001c0002t0002g0031 a0001c0002t0002g0035 a0001c0002t0002g0038 a0001c0002t0002g0044 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0078 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0108 a0001c0002t0002g0115 a0001c0002t0002g0118 a0001c0002t0002g0129 a0001c0002t0002g0145 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0180 a0001c0002t0002g0182 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0196 a0001c0002t0002g0212 a0001c0002t0002g0233 a0001c0002t0002g0238 a0001c0002t0002g0253 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0280 a0001c0002t0002g0282 a0001c0002t0002g0286 a0001c0002t0006g0015 a0001c0003t0001g0284 a0001c0003t0001g0287 a0001c0003t0002g0001 a0001c0003t0002g0002 a0001c0003t0002g0003 a0001c0003t0002g0005 a0001c0003t0002g0010 a0001c0003t0002g0014 a0001c0003t0002g0043 a0001c0003t0002g0127 a0001c0003t0002g0132 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0160 a0001c0003t0002g0163 a0001c0003t0002g0165 a0001c0003t0002g0248 a0001c0003t0002g0268 a0001c0003t0002g0272 a0001c0003t0002g0273 a0001c0003t0002g0274 a0001c0003t0002g0275 a0003c0010t0002g0046	58	288	0.2014	c.179 others(4): Show c.1791G>A	p.Thr others(6): Show p.Thr597Thr	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	19/21	1813/3224	1791/2088	597/695	chr7	TogoVar
AMPH_chr7_38378704_38636373	38391838	G G	A A	synonymous_variant synonymous_variant	LOW	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0080 a0001c0017t0004g0080	1	288	0.0035	c.178 others(4): Show c.1788C>T	p.Pro others(6): Show p.Pro596Pro	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	19/21	1810/3224	1788/2088	596/695	chr7	TogoVar
AMPH_chr7_38378704_38636373	38391880	C C	A A	synonymous_variant synonymous_variant	LOW	HG00280.hp2 HG00621.hp2 HG00642.hp1 others(38): Show HG00280.hp2 HG00621.hp2 HG00642.hp1 HG00733.hp2 HG01070.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01517.hp1 HG01975.hp1 HG01978.hp2 HG02083.hp2 HG02135.hp2 HG02155.hp1 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02895.hp1 HG04184.hp2 HG04228.hp2 NA18945.hp1 NA18951.hp1 NA18957.hp1 NA18965.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp2 NA19057.hp1 NA19060.hp1 NA19088.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0002 a0001c0002t0006 a0002c0008t0002 others(1): Show a0001c0002t0002 a0001c0002t0006 a0002c0008t0002 a0002c0008t0003	a0001c0002t0002g0008 a0001c0002t0002g0021 a0001c0002t0002g0025 others(38): Show a0001c0002t0002g0008 a0001c0002t0002g0021 a0001c0002t0002g0025 a0001c0002t0002g0031 a0001c0002t0002g0035 a0001c0002t0002g0038 a0001c0002t0002g0044 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0078 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0108 a0001c0002t0002g0115 a0001c0002t0002g0118 a0001c0002t0002g0129 a0001c0002t0002g0145 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0180 a0001c0002t0002g0182 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0196 a0001c0002t0002g0212 a0001c0002t0002g0233 a0001c0002t0002g0238 a0001c0002t0002g0253 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0280 a0001c0002t0002g0282 a0001c0002t0002g0286 a0001c0002t0006g0015 a0002c0008t0002g0111 a0002c0008t0002g0116 a0002c0008t0002g0134 a0002c0008t0002g0179 a0002c0008t0002g0181 a0002c0008t0002g0208 a0002c0008t0003g0187	41	288	0.1424	c.174 others(4): Show c.1746G>T	p.Pro others(6): Show p.Pro582Pro	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	19/21	1768/3224	1746/2088	582/695	chr7	TogoVar
AMPH_chr7_38378704_38636373	38391910	C C	T T	synonymous_variant synonymous_variant	LOW	HG00323.hp2 HG01496.hp2 HG02602.hp2 others(1): Show HG00323.hp2 HG01496.hp2 HG02602.hp2 HG04228.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0019 a0001c0009t0006g0036 a0001c0009t0006g0077 others(1): Show a0001c0009t0006g0019 a0001c0009t0006g0036 a0001c0009t0006g0077 a0001c0009t0006g0227	4	288	0.0139	c.171 others(4): Show c.1716G>A	p.Ala others(6): Show p.Ala572Ala	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	19/21	1738/3224	1716/2088	572/695	chr7	TogoVar
AMPH_chr7_38378704_38636373	38462996	T T	C C	synonymous_variant synonymous_variant	LOW	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0219 a0001c0016t0004g0219	1	288	0.0035	c.867 others(3): Show c.867A>G	p.Ala others(6): Show p.Ala289Ala	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	10/21	889/3224	867/2088	289/695	chr7	TogoVar
AMPH_chr7_38378704_38636373	38463080	T T	C C	synonymous_variant synonymous_variant	LOW	HG00741.hp1 HG01109.hp2 HG01433.hp1 others(10): Show HG00741.hp1 HG01109.hp2 HG01433.hp1 HG01884.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp2 HG03139.hp2 HG03579.hp1 NA18906.hp2	a0001 a0007 a0001 a0007	a0001c0005 a0001c0017 a0007c0018 a0001c0005 a0001c0017 a0007c0018	a0001c0005t0001 a0001c0005t0004 a0001c0005t0006 others(2): Show a0001c0005t0001 a0001c0005t0004 a0001c0005t0006 a0001c0017t0004 a0007c0018t0004	a0001c0005t0001g0120 a0001c0005t0001g0166 a0001c0005t0001g0257 others(10): Show a0001c0005t0001g0120 a0001c0005t0001g0166 a0001c0005t0001g0257 a0001c0005t0001g0271 a0001c0005t0004g0013 a0001c0005t0004g0022 a0001c0005t0004g0139 a0001c0005t0004g0162 a0001c0005t0006g0126 a0001c0005t0006g0128 a0001c0005t0006g0157 a0001c0017t0004g0080 a0007c0018t0004g0140	13	288	0.0451	c.783 others(3): Show c.783A>G	p.Pro others(6): Show p.Pro261Pro	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	10/21	805/3224	783/2088	261/695	chr7	TogoVar

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