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
ALS2CL_chr3_46663995_46698679	46677012	C C	T T	missense_variant missense_variant	MODERATE	NA19002.hp1 NA19002.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0002 a0012c0021t0002	a0012c0021t0002g0111 a0012c0021t0002g0111	1	390	0.0026	c.176 others(4): Show c.1768G>A	p.Val others(6): Show p.Val590Met	ALS2CL	ENSG00000178038.17	transcript	ENST00000318962.9	protein_coding	17/26	1830/4913	1768/2862	590/953	chr3	TogoVar
ALS2CL_chr3_46663995_46698679	46680516	G G	T T	missense_variant missense_variant	MODERATE	HG02074.hp1 HG02074.hp1	a0006 a0006	a0006c0030 a0006c0030	a0006c0030t0002 a0006c0030t0002	a0006c0030t0002g0143 a0006c0030t0002g0143	1	390	0.0026	c.146 others(4): Show c.1462C>A	p.Gln others(6): Show p.Gln488Lys	ALS2CL	ENSG00000178038.17	transcript	ENST00000318962.9	protein_coding	14/26	1524/4913	1462/2862	488/953	chr3	TogoVar
ALS2CL_chr3_46663995_46698679	46682047	C C	A A	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0009 a0009	a0009c0034 a0009c0034	a0009c0034t0004 a0009c0034t0004	a0009c0034t0004g0202 a0009c0034t0004g0202	1	390	0.0026	c.115 others(4): Show c.1157G>T	p.Cys others(6): Show p.Cys386Phe	ALS2CL	ENSG00000178038.17	transcript	ENST00000318962.9	protein_coding	11/26	1219/4913	1157/2862	386/953	chr3	TogoVar
ALS2CL_chr3_46663995_46698679	46683164	C C	T T	missense_variant missense_variant	MODERATE	NA19002.hp2 NA19002.hp2	a0010 a0010	a0010c0029 a0010c0029	a0010c0029t0003 a0010c0029t0003	a0010c0029t0003g0060 a0010c0029t0003g0060	1	390	0.0026	c.107 others(4): Show c.1075G>A	p.Glu others(6): Show p.Glu359Lys	ALS2CL	ENSG00000178038.17	transcript	ENST00000318962.9	protein_coding	10/26	1137/4913	1075/2862	359/953	chr3	TogoVar
ALS2CL_chr3_46663995_46698679	46683224	C C	T T	missense_variant missense_variant	MODERATE	HG00738.hp2 HG01074.hp1 HG02647.hp1 others(4): Show HG00738.hp2 HG01074.hp1 HG02647.hp1 HG02886.hp1 HG02965.hp2 HG03195.hp1 NA18906.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0009 a0003c0008t0027 a0003c0008t0009 a0003c0008t0027	a0003c0008t0009g0012 a0003c0008t0009g0080 a0003c0008t0027g0081 a0003c0008t0009g0012 a0003c0008t0009g0080 a0003c0008t0027g0081	7	390	0.0180	c.101 others(4): Show c.1015G>A	p.Asp others(6): Show p.Asp339Asn	ALS2CL	ENSG00000178038.17	transcript	ENST00000318962.9	protein_coding	10/26	1077/4913	1015/2862	339/953	chr3	TogoVar
ALS2CL_chr3_46663995_46698679	46686340	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02630.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0002 a0014c0020t0002	a0014c0020t0002g0185 a0014c0020t0002g0185	1	390	0.0026	c.634 others(3): Show c.634G>A	p.Ala others(6): Show p.Ala212Thr	ALS2CL	ENSG00000178038.17	transcript	ENST00000318962.9	protein_coding	6/26	696/4913	634/2862	212/953	chr3	TogoVar
ALS2CL_chr3_46663995_46698679	46687066	C C	T T	missense_variant missense_variant	MODERATE	HG03710.hp1 HG03710.hp1	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0003 a0011c0028t0003	a0011c0028t0003g0058 a0011c0028t0003g0058	1	390	0.0026	c.451 others(3): Show c.451G>A	p.Gly others(6): Show p.Gly151Ser	ALS2CL	ENSG00000178038.17	transcript	ENST00000318962.9	protein_coding	5/26	513/4913	451/2862	151/953	chr3	TogoVar
ALS2CL_chr3_46663995_46698679	46687138	G G	A A	missense_variant missense_variant	MODERATE	HG03704.hp1 HG03704.hp1	a0015 a0015	a0015c0027 a0015c0027	a0015c0027t0022 a0015c0027t0022	a0015c0027t0022g0131 a0015c0027t0022g0131	1	390	0.0026	c.379 others(3): Show c.379C>T	p.Arg others(6): Show p.Arg127Trp	ALS2CL	ENSG00000178038.17	transcript	ENST00000318962.9	protein_coding	5/26	441/4913	379/2862	127/953	chr3	TogoVar
ALS2CL_chr3_46663995_46698679	46688156	C C	G G	missense_variant missense_variant	MODERATE	HG02080.hp1 HG02080.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0002 a0016c0018t0002	a0016c0018t0002g0101 a0016c0018t0002g0101	1	390	0.0026	c.244 others(3): Show c.244G>C	p.Gly others(5): Show p.Gly82Arg	ALS2CL	ENSG00000178038.17	transcript	ENST00000318962.9	protein_coding	3/26	306/4913	244/2862	82/953	chr3	TogoVar
ALS2CL_chr3_46663995_46698679	46688267	C C	G G	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(151): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00673.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18988.hp1 NA18989.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19063.hp1 NA19064.hp1 NA19067.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19089.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0005 a0012 others(4): Show a0002 a0005 a0012 a0013 a0014 a0015 a0016	a0002c0003 a0002c0004 a0002c0006 others(16): Show a0002c0003 a0002c0004 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0002c0011 a0002c0014 a0002c0019 a0002c0022 a0002c0024 a0002c0025 a0002c0026 a0005c0013 a0012c0021 a0013c0023 a0014c0020 a0015c0027 a0016c0018	a0002c0003t0002 a0002c0003t0008 a0002c0003t0012 others(39): Show a0002c0003t0002 a0002c0003t0008 a0002c0003t0012 a0002c0003t0022 a0002c0003t0034 a0002c0003t0036 a0002c0003t0037 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0008 a0002c0004t0019 a0002c0004t0023 a0002c0004t0029 a0002c0004t0030 a0002c0004t0033 a0002c0006t0005 a0002c0006t0025 a0002c0006t0026 a0002c0007t0007 a0002c0007t0013 a0002c0007t0028 a0002c0009t0010 a0002c0009t0011 a0002c0010t0010 a0002c0010t0011 a0002c0011t0017 a0002c0011t0018 a0002c0014t0002 a0002c0019t0005 a0002c0022t0005 a0002c0024t0002 a0002c0025t0002 a0002c0026t0005 a0005c0013t0002 a0012c0021t0002 a0013c0023t0006 a0014c0020t0002 a0015c0027t0022 a0016c0018t0002	a0002c0003t0002g0002 a0002c0003t0002g0010 a0002c0003t0002g0020 others(88): Show a0002c0003t0002g0002 a0002c0003t0002g0010 a0002c0003t0002g0020 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0002g0038 a0002c0003t0002g0042 a0002c0003t0002g0096 a0002c0003t0002g0097 a0002c0003t0002g0103 a0002c0003t0002g0104 a0002c0003t0002g0110 a0002c0003t0002g0112 a0002c0003t0002g0115 a0002c0003t0002g0116 a0002c0003t0002g0119 a0002c0003t0002g0122 a0002c0003t0002g0127 a0002c0003t0002g0169 a0002c0003t0002g0170 a0002c0003t0002g0174 a0002c0003t0002g0176 a0002c0003t0002g0178 a0002c0003t0008g0022 a0002c0003t0008g0126 a0002c0003t0008g0175 a0002c0003t0012g0021 a0002c0003t0012g0177 a0002c0003t0022g0121 a0002c0003t0034g0109 a0002c0003t0036g0108 a0002c0003t0037g0120 a0002c0004t0001g0089 a0002c0004t0001g0090 a0002c0004t0001g0124 a0002c0004t0002g0004 a0002c0004t0002g0082 a0002c0004t0002g0107 a0002c0004t0002g0117 a0002c0004t0002g0128 a0002c0004t0002g0130 a0002c0004t0003g0106 a0002c0004t0003g0113 a0002c0004t0003g0132 a0002c0004t0004g0050 a0002c0004t0004g0098 a0002c0004t0004g0114 a0002c0004t0004g0123 a0002c0004t0005g0205 a0002c0004t0008g0118 a0002c0004t0019g0172 a0002c0004t0019g0173 a0002c0004t0023g0206 a0002c0004t0023g0207 a0002c0004t0029g0204 a0002c0004t0030g0048 a0002c0004t0033g0179 a0002c0006t0005g0016 a0002c0006t0005g0029 a0002c0006t0005g0049 a0002c0006t0005g0203 a0002c0006t0005g0213 a0002c0006t0025g0210 a0002c0006t0026g0211 a0002c0007t0007g0028 a0002c0007t0007g0186 a0002c0007t0007g0187 a0002c0007t0007g0192 a0002c0007t0007g0193 a0002c0007t0013g0188 a0002c0007t0013g0189 a0002c0007t0013g0191 a0002c0007t0028g0190 a0002c0009t0010g0015 a0002c0009t0011g0212 a0002c0010t0010g0056 a0002c0010t0011g0017 a0002c0011t0017g0045 a0002c0011t0018g0209 a0002c0014t0002g0043 a0002c0019t0005g0214 a0002c0022t0005g0105 a0002c0024t0002g0125 a0002c0025t0002g0129 a0002c0026t0005g0208 a0005c0013t0002g0037 a0012c0021t0002g0111 a0013c0023t0006g0102 a0014c0020t0002g0185 a0015c0027t0022g0131 a0016c0018t0002g0101	154	390	0.3949	c.133 others(3): Show c.133G>C	p.Glu others(5): Show p.Glu45Gln	ALS2CL	ENSG00000178038.17	transcript	ENST00000318962.9	protein_coding	3/26	195/4913	133/2862	45/953	chr3	TogoVar
ALS2CL_chr3_46663995_46698679	46689355	T T	C C	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02559.hp2 HG02809.hp2 others(5): Show HG02559.hp1 HG02559.hp2 HG02809.hp2 HG03130.hp2 HG03453.hp2 HG03486.hp1 NA19240.hp2 NA20300.hp1	a0004 a0017 a0004 a0017	a0004c0012 a0004c0016 a0004c0036 others(2): Show a0004c0012 a0004c0016 a0004c0036 a0004c0037 a0017c0038	a0004c0012t0021 a0004c0012t0024 a0004c0012t0035 others(4): Show a0004c0012t0021 a0004c0012t0024 a0004c0012t0035 a0004c0016t0015 a0004c0036t0008 a0004c0037t0005 a0017c0038t0021	a0004c0012t0021g0195 a0004c0012t0024g0046 a0004c0012t0035g0194 others(4): Show a0004c0012t0021g0195 a0004c0012t0024g0046 a0004c0012t0035g0194 a0004c0016t0015g0044 a0004c0036t0008g0197 a0004c0037t0005g0198 a0017c0038t0021g0196	8	390	0.0205	c.86A others(2): Show c.86A>G	p.Gln others(5): Show p.Gln29Arg	ALS2CL	ENSG00000178038.17	transcript	ENST00000318962.9	protein_coding	2/26	148/4913	86/2862	29/953	chr3	TogoVar
ALS2_chr2_201695267_201785933	201706930	C C	T T	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0012 a0012c0019t0012	a0012c0019t0012g0082 a0012c0019t0012g0082	1	354	0.0028	c.449 others(4): Show c.4496G>A	p.Arg others(7): Show p.Arg1499His	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	29/34	4613/6675	4496/4974	1499/1657	chr2	TogoVar
ALS2_chr2_201695267_201785933	201718204	G G	T T	missense_variant missense_variant	MODERATE	NA18965.hp2 NA18965.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0218 a0013c0018t0001g0218	1	354	0.0028	c.370 others(4): Show c.3709C>A	p.Leu others(7): Show p.Leu1237Met	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	24/34	3826/6675	3709/4974	1237/1657	chr2	TogoVar
ALS2_chr2_201695267_201785933	201723437	C C	T T	missense_variant missense_variant	MODERATE	HG00673.hp2 NA19005.hp1 NA19057.hp1 HG00673.hp2 NA19005.hp1 NA19057.hp1	a0006 a0008 a0006 a0008	a0006c0010 a0008c0021 a0006c0010 a0008c0021	a0006c0010t0001 a0008c0021t0001 a0006c0010t0001 a0008c0021t0001	a0006c0010t0001g0097 a0006c0010t0001g0145 a0008c0021t0001g0086 a0006c0010t0001g0097 a0006c0010t0001g0145 a0008c0021t0001g0086	3	354	0.0085	c.351 others(4): Show c.3517G>A	p.Glu others(7): Show p.Glu1173Lys	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	22/34	3634/6675	3517/4974	1173/1657	chr2	TogoVar
ALS2_chr2_201695267_201785933	201726526	C C	T T	missense_variant missense_variant	MODERATE	HG03209.hp2 HG03209.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0228 a0011c0017t0001g0228	1	354	0.0028	c.320 others(4): Show c.3206G>A	p.Gly others(7): Show p.Gly1069Glu	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	19/34	3323/6675	3206/4974	1069/1657	chr2	TogoVar
ALS2_chr2_201695267_201785933	201726784	C C	T T	missense_variant missense_variant	MODERATE	HG01175.hp1 HG01175.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0130 a0010c0016t0001g0130	1	354	0.0028	c.306 others(4): Show c.3062G>A	p.Ser others(7): Show p.Ser1021Asn	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	18/34	3179/6675	3062/4974	1021/1657	chr2	TogoVar
ALS2_chr2_201695267_201785933	201726800	G G	C C	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02280.hp2	a0015 a0015	a0015c0023 a0015c0023	a0015c0023t0001 a0015c0023t0001	a0015c0023t0001g0035 a0015c0023t0001g0035	1	354	0.0028	c.304 others(4): Show c.3046C>G	p.Pro others(7): Show p.Pro1016Ala	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	18/34	3163/6675	3046/4974	1016/1657	chr2	TogoVar
ALS2_chr2_201695267_201785933	201727238	G G	A A	missense_variant missense_variant	MODERATE	NA18975.hp1 NA18994.hp2 NA18975.hp1 NA18994.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0002 a0005c0012t0002	a0005c0012t0002g0160 a0005c0012t0002g0163 a0005c0012t0002g0160 a0005c0012t0002g0163	2	354	0.0057	c.295 others(4): Show c.2953C>T	p.Leu others(6): Show p.Leu985Phe	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	17/34	3070/6675	2953/4974	985/1657	chr2	TogoVar
ALS2_chr2_201695267_201785933	201746580	G G	T T	missense_variant missense_variant	MODERATE	HG02165.hp1 HG02165.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0002 a0009c0015t0002	a0009c0015t0002g0188 a0009c0015t0002g0188	1	354	0.0028	c.198 others(4): Show c.1984C>A	p.Leu others(6): Show p.Leu662Ile	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	9/34	2101/6675	1984/4974	662/1657	chr2	TogoVar
ALS2_chr2_201695267_201785933	201749717	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01884.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0043 a0014c0014t0001g0043	1	354	0.0028	c.181 others(4): Show c.1810G>A	p.Ala others(6): Show p.Ala604Thr	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	8/34	1927/6675	1810/4974	604/1657	chr2	TogoVar
ALS2_chr2_201695267_201785933	201757758	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0019 a0007c0013t0001g0019	2	354	0.0057	c.111 others(4): Show c.1115C>G	p.Pro others(6): Show p.Pro372Arg	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	5/34	1232/6675	1115/4974	372/1657	chr2	TogoVar
ALS2_chr2_201695267_201785933	201760892	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(332): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(11): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0011 a0001c0022 a0003c0007 a0004c0008 a0005c0012 a0006c0010 a0007c0013 a0008c0021 a0009c0015 a0010c0016 a0011c0017 a0012c0019 a0013c0018 a0014c0014 a0015c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0007 a0001c0004t0001 a0001c0004t0003 a0001c0009t0001 a0001c0011t0001 a0001c0022t0001 a0003c0007t0001 a0004c0008t0001 a0005c0012t0002 a0006c0010t0001 a0007c0013t0001 a0008c0021t0001 a0009c0015t0002 a0010c0016t0001 a0011c0017t0001 a0012c0019t0012 a0013c0018t0001 a0014c0014t0001 a0015c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(313): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0149 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0006g0331 a0001c0001t0006g0332 a0001c0001t0008g0280 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0039 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0158 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0001g0215 a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0234 a0001c0002t0001g0308 a0001c0002t0001g0310 a0001c0002t0001g0315 a0001c0002t0001g0325 a0001c0002t0009g0136 a0001c0002t0010g0112 a0001c0002t0011g0102 a0001c0003t0001g0042 a0001c0003t0001g0173 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 a0001c0003t0002g0011 a0001c0003t0002g0087 a0001c0003t0002g0122 a0001c0003t0002g0159 a0001c0003t0002g0161 a0001c0003t0002g0162 a0001c0003t0002g0164 a0001c0003t0002g0166 a0001c0003t0002g0167 a0001c0003t0002g0168 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0002g0171 a0001c0003t0002g0172 a0001c0003t0002g0174 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0183 a0001c0003t0002g0184 a0001c0003t0002g0185 a0001c0003t0002g0186 a0001c0003t0002g0187 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0191 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0197 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0201 a0001c0003t0002g0203 a0001c0003t0002g0220 a0001c0003t0002g0299 a0001c0003t0002g0300 a0001c0003t0004g0154 a0001c0003t0004g0155 a0001c0003t0004g0156 a0001c0003t0004g0165 a0001c0003t0007g0040 a0001c0003t0007g0041 a0001c0004t0001g0003 a0001c0004t0001g0005 a0001c0004t0001g0044 a0001c0004t0001g0045 a0001c0004t0001g0047 a0001c0004t0001g0048 a0001c0004t0001g0049 a0001c0004t0001g0050 a0001c0004t0001g0073 a0001c0004t0001g0074 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0001g0077 a0001c0004t0001g0078 a0001c0004t0001g0157 a0001c0004t0001g0216 a0001c0004t0003g0029 a0001c0009t0001g0016 a0001c0009t0001g0229 a0001c0009t0001g0312 a0001c0011t0001g0081 a0001c0011t0001g0322 a0001c0022t0001g0124 a0003c0007t0001g0032 a0003c0007t0001g0033 a0003c0007t0001g0034 a0003c0007t0001g0036 a0003c0007t0001g0037 a0003c0007t0001g0079 a0004c0008t0001g0236 a0004c0008t0001g0237 a0004c0008t0001g0240 a0004c0008t0001g0241 a0005c0012t0002g0160 a0005c0012t0002g0163 a0006c0010t0001g0097 a0006c0010t0001g0145 a0007c0013t0001g0019 a0008c0021t0001g0086 a0009c0015t0002g0188 a0010c0016t0001g0130 a0011c0017t0001g0228 a0012c0019t0012g0082 a0013c0018t0001g0218 a0014c0014t0001g0043 a0015c0023t0001g0035	335	354	0.9463	c.110 others(4): Show c.1102G>A	p.Val others(6): Show p.Val368Met	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	4/34	1219/6675	1102/4974	368/1657	chr2	TogoVar
ALS2_chr2_201695267_201785933	201761519	C C	T T	missense_variant missense_variant	MODERATE	HG01943.hp1 HG01952.hp2 HG01981.hp1 others(1): Show HG01943.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0236 a0004c0008t0001g0237 a0004c0008t0001g0240 others(1): Show a0004c0008t0001g0236 a0004c0008t0001g0237 a0004c0008t0001g0240 a0004c0008t0001g0241	4	354	0.0113	c.475 others(3): Show c.475G>A	p.Glu others(6): Show p.Glu159Lys	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	4/34	592/6675	475/4974	159/1657	chr2	TogoVar
ALS2_chr2_201695267_201785933	201761599	G G	A A	missense_variant missense_variant	MODERATE	HG00673.hp2 HG00673.hp2	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0001 a0008c0021t0001	a0008c0021t0001g0086 a0008c0021t0001g0086	1	354	0.0028	c.395 others(3): Show c.395C>T	p.Pro others(6): Show p.Pro132Leu	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	4/34	512/6675	395/4974	132/1657	chr2	TogoVar
ALS2_chr2_201695267_201785933	201761714	T T	C C	missense_variant missense_variant	MODERATE	HG01496.hp2 HG02258.hp1 HG02280.hp2 others(4): Show HG01496.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02647.hp1 HG03017.hp1 HG03195.hp1	a0003 a0015 a0003 a0015	a0003c0007 a0015c0023 a0003c0007 a0015c0023	a0003c0007t0001 a0015c0023t0001 a0003c0007t0001 a0015c0023t0001	a0003c0007t0001g0032 a0003c0007t0001g0033 a0003c0007t0001g0034 others(4): Show a0003c0007t0001g0032 a0003c0007t0001g0033 a0003c0007t0001g0034 a0003c0007t0001g0036 a0003c0007t0001g0037 a0003c0007t0001g0079 a0015c0023t0001g0035	7	354	0.0198	c.280 others(3): Show c.280A>G	p.Ile others(5): Show p.Ile94Val	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	4/34	397/6675	280/4974	94/1657	chr2	TogoVar
ALX1_chr12_85275220_85306784	85280443	A A	G G	missense_variant missense_variant	MODERATE	HG01517.hp2 HG01517.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0001 a0006c0010t0001g0001	1	384	0.0026	c.182 others(3): Show c.182A>G	p.His others(5): Show p.His61Arg	ALX1	ENSG00000180318.4	transcript	ENST00000316824.4	protein_coding	1/4	224/1332	182/981	61/326	chr12	TogoVar
ALX1_chr12_85275220_85306784	85283611	A A	G G	missense_variant missense_variant	MODERATE	HG03516.hp1 NA19030.hp2 HG03516.hp1 NA19030.hp2	a0002 a0002	a0002c0008 a0002c0009 a0002c0008 a0002c0009	a0002c0008t0001 a0002c0009t0001 a0002c0008t0001 a0002c0009t0001	a0002c0008t0001g0015 a0002c0009t0001g0015 a0002c0008t0001g0015 a0002c0009t0001g0015	2	384	0.0052	c.266 others(3): Show c.266A>G	p.His others(5): Show p.His89Arg	ALX1	ENSG00000180318.4	transcript	ENST00000316824.4	protein_coding	2/4	308/1332	266/981	89/326	chr12	TogoVar
ALX1_chr12_85275220_85306784	85283625	A A	G G	missense_variant missense_variant	MODERATE	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0016 a0003c0007t0001g0016	1	384	0.0026	c.280 others(3): Show c.280A>G	p.Arg others(5): Show p.Arg94Gly	ALX1	ENSG00000180318.4	transcript	ENST00000316824.4	protein_coding	2/4	322/1332	280/981	94/326	chr12	TogoVar
ALX1_chr12_85275220_85306784	85283701	T T	G G	missense_variant missense_variant	MODERATE	HG03516.hp2 HG03516.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0035 a0005c0004t0001g0035	1	384	0.0026	c.356 others(3): Show c.356T>G	p.Leu others(6): Show p.Leu119Arg	ALX1	ENSG00000180318.4	transcript	ENST00000316824.4	protein_coding	2/4	398/1332	356/981	119/326	chr12	TogoVar
ALX1_chr12_85275220_85306784	85301222	G G	A A	missense_variant missense_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0004 a0004c0005t0001g0004	1	384	0.0026	c.728 others(3): Show c.728G>A	p.Arg others(6): Show p.Arg243His	ALX1	ENSG00000180318.4	transcript	ENST00000316824.4	protein_coding	4/4	770/1332	728/981	243/326	chr12	TogoVar
ALX3_chr1_110054870_110075672	110060806	T T	C C	missense_variant missense_variant	MODERATE	HG03239.hp1 HG03239.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0137 a0004c0007t0001g0137	1	422	0.0024	c.959 others(3): Show c.959A>G	p.Tyr others(6): Show p.Tyr320Cys	ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	4/4	1019/1955	959/1032	320/343	chr1	TogoVar
ALX3_chr1_110054870_110075672	110061469	A A	C C	missense_variant missense_variant	MODERATE	HG01081.hp2 HG01081.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0135 a0005c0005t0001g0135	1	422	0.0024	c.689 others(3): Show c.689T>G	p.Ile others(6): Show p.Ile230Ser	ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	3/4	749/1955	689/1032	230/343	chr1	TogoVar
ALX3_chr1_110054870_110075672	110061520	C C	T T	missense_variant missense_variant	MODERATE	NA18946.hp2 NA18960.hp2 NA18946.hp2 NA18960.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0037 a0002c0003t0002g0037	2	422	0.0047	c.638 others(3): Show c.638G>A	p.Arg others(6): Show p.Arg213His	ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	3/4	698/1955	638/1032	213/343	chr1	TogoVar
ALX3_chr1_110054870_110075672	110070458	G G	A A	missense_variant missense_variant	MODERATE	NA20805.hp2 NA20805.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0181 a0003c0009t0002g0181	1	422	0.0024	c.155 others(3): Show c.155C>T	p.Pro others(5): Show p.Pro52Leu	ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	1/4	215/1955	155/1032	52/343	chr1	TogoVar
ALX4_chr11_44255440_44315139	44264957	T T	C C	missense_variant missense_variant	MODERATE	HG02602.hp1 HG02602.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0011 a0007c0018t0001g0011	1	388	0.0026	c.113 others(4): Show c.1133A>G	p.Asn others(6): Show p.Asn378Ser	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	4/4	1210/5727	1133/1236	378/411	chr11	TogoVar
ALX4_chr11_44255440_44315139	44309603	A A	T T	missense_variant missense_variant	MODERATE	HG02976.hp2 HG02976.hp2	a0006 a0006	a0006c0022 a0006c0022	a0006c0022t0009 a0006c0022t0009	a0006c0022t0009g0166 a0006c0022t0009g0166	1	388	0.0026	c.460 others(3): Show c.460T>A	p.Cys others(6): Show p.Cys154Ser	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/4	537/5727	460/1236	154/411	chr11	TogoVar
ALX4_chr11_44255440_44315139	44309710	G G	T T	missense_variant missense_variant	MODERATE	NA19001.hp1 NA19001.hp1	a0005 a0005	a0005c0025 a0005c0025	a0005c0025t0008 a0005c0025t0008	a0005c0025t0008g0177 a0005c0025t0008g0177	1	388	0.0026	c.353 others(3): Show c.353C>A	p.Ala others(6): Show p.Ala118Glu	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/4	430/5727	353/1236	118/411	chr11	TogoVar
ALX4_chr11_44255440_44315139	44309759	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00323.hp1 HG00423.hp1 others(123): Show HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0008 a0002c0003 a0002c0004 a0002c0008	a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 others(34): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0003t0010 a0002c0003t0017 a0002c0003t0018 a0002c0003t0041 a0002c0003t0045 a0002c0003t0047 a0002c0003t0049 a0002c0003t0054 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0006 a0002c0004t0007 a0002c0004t0008 a0002c0004t0012 a0002c0004t0014 a0002c0004t0019 a0002c0004t0020 a0002c0004t0022 a0002c0004t0034 a0002c0004t0035 a0002c0004t0037 a0002c0004t0039 a0002c0004t0046 a0002c0008t0004 a0002c0008t0005 a0002c0008t0006 a0002c0008t0012 a0002c0008t0051 a0002c0008t0063	a0002c0003t0001g0001 a0002c0003t0001g0044 a0002c0003t0001g0045 others(122): Show a0002c0003t0001g0001 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0047 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0053 a0002c0003t0001g0055 a0002c0003t0001g0060 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0075 a0002c0003t0001g0081 a0002c0003t0001g0095 a0002c0003t0001g0097 a0002c0003t0001g0098 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0105 a0002c0003t0001g0110 a0002c0003t0001g0112 a0002c0003t0001g0115 a0002c0003t0001g0119 a0002c0003t0001g0124 a0002c0003t0001g0130 a0002c0003t0001g0132 a0002c0003t0001g0135 a0002c0003t0001g0138 a0002c0003t0001g0142 a0002c0003t0001g0147 a0002c0003t0001g0153 a0002c0003t0001g0159 a0002c0003t0001g0162 a0002c0003t0002g0042 a0002c0003t0002g0088 a0002c0003t0002g0118 a0002c0003t0002g0155 a0002c0003t0002g0157 a0002c0003t0004g0077 a0002c0003t0004g0100 a0002c0003t0004g0116 a0002c0003t0004g0145 a0002c0003t0005g0082 a0002c0003t0005g0099 a0002c0003t0006g0148 a0002c0003t0010g0052 a0002c0003t0010g0083 a0002c0003t0010g0084 a0002c0003t0010g0126 a0002c0003t0010g0129 a0002c0003t0010g0134 a0002c0003t0010g0163 a0002c0003t0017g0136 a0002c0003t0018g0061 a0002c0003t0018g0087 a0002c0003t0041g0137 a0002c0003t0045g0113 a0002c0003t0047g0114 a0002c0003t0049g0146 a0002c0003t0054g0104 a0002c0004t0001g0120 a0002c0004t0001g0133 a0002c0004t0001g0165 a0002c0004t0002g0076 a0002c0004t0002g0106 a0002c0004t0002g0108 a0002c0004t0002g0154 a0002c0004t0003g0054 a0002c0004t0003g0057 a0002c0004t0003g0109 a0002c0004t0003g0122 a0002c0004t0003g0123 a0002c0004t0003g0156 a0002c0004t0004g0117 a0002c0004t0004g0151 a0002c0004t0005g0058 a0002c0004t0005g0085 a0002c0004t0005g0090 a0002c0004t0005g0093 a0002c0004t0005g0125 a0002c0004t0005g0139 a0002c0004t0005g0141 a0002c0004t0005g0143 a0002c0004t0005g0144 a0002c0004t0005g0160 a0002c0004t0005g0161 a0002c0004t0006g0101 a0002c0004t0006g0127 a0002c0004t0007g0043 a0002c0004t0008g0096 a0002c0004t0008g0152 a0002c0004t0012g0078 a0002c0004t0014g0056 a0002c0004t0014g0070 a0002c0004t0014g0107 a0002c0004t0014g0164 a0002c0004t0019g0079 a0002c0004t0020g0158 a0002c0004t0022g0074 a0002c0004t0022g0128 a0002c0004t0034g0140 a0002c0004t0035g0121 a0002c0004t0037g0091 a0002c0004t0039g0092 a0002c0004t0046g0069 a0002c0008t0004g0086 a0002c0008t0004g0150 a0002c0008t0005g0046 a0002c0008t0005g0048 a0002c0008t0005g0094 a0002c0008t0005g0149 a0002c0008t0006g0049 a0002c0008t0006g0071 a0002c0008t0006g0080 a0002c0008t0012g0089 a0002c0008t0012g0131 a0002c0008t0051g0059 a0002c0008t0063g0111	126	388	0.3247	c.304 others(3): Show c.304C>T	p.Pro others(6): Show p.Pro102Ser	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/4	381/5727	304/1236	102/411	chr11	TogoVar
ALX4_chr11_44255440_44315139	44309959	C C	G G	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00323.hp1 HG00423.hp1 others(157): Show HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0003 a0002c0004 a0002c0008 others(10): Show a0002c0003 a0002c0004 a0002c0008 a0003c0006 a0003c0010 a0003c0013 a0003c0014 a0003c0015 a0003c0017 a0003c0019 a0003c0020 a0003c0021 a0007c0018	a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 others(59): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0003t0010 a0002c0003t0017 a0002c0003t0018 a0002c0003t0041 a0002c0003t0045 a0002c0003t0047 a0002c0003t0049 a0002c0003t0054 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0006 a0002c0004t0007 a0002c0004t0008 a0002c0004t0012 a0002c0004t0014 a0002c0004t0019 a0002c0004t0020 a0002c0004t0022 a0002c0004t0034 a0002c0004t0035 a0002c0004t0037 a0002c0004t0039 a0002c0004t0046 a0002c0008t0004 a0002c0008t0005 a0002c0008t0006 a0002c0008t0012 a0002c0008t0051 a0002c0008t0063 a0003c0006t0003 a0003c0006t0004 a0003c0006t0007 a0003c0006t0009 a0003c0006t0011 a0003c0006t0013 a0003c0006t0015 a0003c0006t0019 a0003c0006t0024 a0003c0006t0032 a0003c0006t0065 a0003c0010t0001 a0003c0010t0002 a0003c0010t0012 a0003c0010t0042 a0003c0010t0048 a0003c0013t0001 a0003c0014t0003 a0003c0014t0030 a0003c0015t0029 a0003c0017t0002 a0003c0019t0059 a0003c0020t0026 a0003c0021t0027 a0007c0018t0001	a0002c0003t0001g0001 a0002c0003t0001g0044 a0002c0003t0001g0045 others(156): Show a0002c0003t0001g0001 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0047 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0053 a0002c0003t0001g0055 a0002c0003t0001g0060 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0075 a0002c0003t0001g0081 a0002c0003t0001g0095 a0002c0003t0001g0097 a0002c0003t0001g0098 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0105 a0002c0003t0001g0110 a0002c0003t0001g0112 a0002c0003t0001g0115 a0002c0003t0001g0119 a0002c0003t0001g0124 a0002c0003t0001g0130 a0002c0003t0001g0132 a0002c0003t0001g0135 a0002c0003t0001g0138 a0002c0003t0001g0142 a0002c0003t0001g0147 a0002c0003t0001g0153 a0002c0003t0001g0159 a0002c0003t0001g0162 a0002c0003t0002g0042 a0002c0003t0002g0088 a0002c0003t0002g0118 a0002c0003t0002g0155 a0002c0003t0002g0157 a0002c0003t0004g0077 a0002c0003t0004g0100 a0002c0003t0004g0116 a0002c0003t0004g0145 a0002c0003t0005g0082 a0002c0003t0005g0099 a0002c0003t0006g0148 a0002c0003t0010g0052 a0002c0003t0010g0083 a0002c0003t0010g0084 a0002c0003t0010g0126 a0002c0003t0010g0129 a0002c0003t0010g0134 a0002c0003t0010g0163 a0002c0003t0017g0136 a0002c0003t0018g0061 a0002c0003t0018g0087 a0002c0003t0041g0137 a0002c0003t0045g0113 a0002c0003t0047g0114 a0002c0003t0049g0146 a0002c0003t0054g0104 a0002c0004t0001g0120 a0002c0004t0001g0133 a0002c0004t0001g0165 a0002c0004t0002g0076 a0002c0004t0002g0106 a0002c0004t0002g0108 a0002c0004t0002g0154 a0002c0004t0003g0054 a0002c0004t0003g0057 a0002c0004t0003g0109 a0002c0004t0003g0122 a0002c0004t0003g0123 a0002c0004t0003g0156 a0002c0004t0004g0117 a0002c0004t0004g0151 a0002c0004t0005g0058 a0002c0004t0005g0085 a0002c0004t0005g0090 a0002c0004t0005g0093 a0002c0004t0005g0125 a0002c0004t0005g0139 a0002c0004t0005g0141 a0002c0004t0005g0143 a0002c0004t0005g0144 a0002c0004t0005g0160 a0002c0004t0005g0161 a0002c0004t0006g0101 a0002c0004t0006g0127 a0002c0004t0007g0043 a0002c0004t0008g0096 a0002c0004t0008g0152 a0002c0004t0012g0078 a0002c0004t0014g0056 a0002c0004t0014g0070 a0002c0004t0014g0107 a0002c0004t0014g0164 a0002c0004t0019g0079 a0002c0004t0020g0158 a0002c0004t0022g0074 a0002c0004t0022g0128 a0002c0004t0034g0140 a0002c0004t0035g0121 a0002c0004t0037g0091 a0002c0004t0039g0092 a0002c0004t0046g0069 a0002c0008t0004g0086 a0002c0008t0004g0150 a0002c0008t0005g0046 a0002c0008t0005g0048 a0002c0008t0005g0094 a0002c0008t0005g0149 a0002c0008t0006g0049 a0002c0008t0006g0071 a0002c0008t0006g0080 a0002c0008t0012g0089 a0002c0008t0012g0131 a0002c0008t0051g0059 a0002c0008t0063g0111 a0003c0006t0003g0021 a0003c0006t0003g0024 a0003c0006t0003g0036 a0003c0006t0003g0039 a0003c0006t0004g0025 a0003c0006t0007g0038 a0003c0006t0009g0023 a0003c0006t0009g0026 a0003c0006t0011g0031 a0003c0006t0013g0033 a0003c0006t0013g0041 a0003c0006t0015g0013 a0003c0006t0019g0030 a0003c0006t0024g0020 a0003c0006t0024g0027 a0003c0006t0032g0018 a0003c0006t0065g0035 a0003c0010t0001g0016 a0003c0010t0002g0032 a0003c0010t0012g0028 a0003c0010t0012g0029 a0003c0010t0042g0022 a0003c0010t0048g0015 a0003c0013t0001g0009 a0003c0013t0001g0012 a0003c0014t0003g0040 a0003c0014t0030g0014 a0003c0015t0029g0034 a0003c0015t0029g0037 a0003c0017t0002g0008 a0003c0019t0059g0010 a0003c0020t0026g0017 a0003c0021t0027g0019 a0007c0018t0001g0011	160	388	0.4124	c.104 others(3): Show c.104G>C	p.Arg others(5): Show p.Arg35Thr	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/4	181/5727	104/1236	35/411	chr11	TogoVar
ALYREF_chr17_81882835_81896586	81891397	T T	C C	missense_variant missense_variant	MODERATE	NA18976.hp1 NA18993.hp2 NA19056.hp2 NA18976.hp1 NA18993.hp2 NA19056.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0011 a0002c0003t0001g0011	3	322	0.0093	c.184 others(3): Show c.184A>G	p.Ile others(5): Show p.Ile62Val	ALYREF	ENSG00000183684.8	transcript	ENST00000505490.3	protein_coding	1/6	190/1097	184/795	62/264	chr17	TogoVar
AMACR_chr5_33981165_34013050	33989413	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(346): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 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 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0005 a0006 a0008 a0010 a0014 a0015 a0016 a0018	a0001c0001 a0002c0002 a0002c0010 others(10): Show a0001c0001 a0002c0002 a0002c0010 a0004c0004 a0005c0005 a0006c0006 a0008c0008 a0010c0011 a0010c0018 a0014c0015 a0015c0016 a0016c0017 a0018c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(72): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0038 a0001c0001t0041 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0024 a0002c0002t0042 a0002c0010t0002 a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 a0004c0004t0005 a0004c0004t0006 a0004c0004t0008 a0004c0004t0010 a0004c0004t0033 a0005c0005t0001 a0005c0005t0002 a0005c0005t0004 a0005c0005t0005 a0005c0005t0006 a0005c0005t0010 a0005c0005t0019 a0005c0005t0023 a0005c0005t0036 a0005c0005t0043 a0006c0006t0001 a0006c0006t0002 a0006c0006t0004 a0006c0006t0007 a0006c0006t0025 a0008c0008t0007 a0008c0008t0010 a0008c0008t0011 a0008c0008t0013 a0008c0008t0032 a0008c0008t0039 a0008c0008t0040 a0010c0011t0004 a0010c0011t0007 a0010c0018t0002 a0014c0015t0012 a0015c0016t0001 a0015c0016t0004 a0016c0017t0001 a0018c0020t0001	a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0096 others(155): Show a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0096 a0001c0001t0001g0108 a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0002g0014 a0001c0001t0002g0029 a0001c0001t0002g0048 a0001c0001t0002g0204 a0001c0001t0003g0106 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0005g0001 a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0141 a0001c0001t0005g0143 a0001c0001t0005g0167 a0001c0001t0005g0171 a0001c0001t0005g0201 a0001c0001t0006g0006 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0049 a0001c0001t0006g0051 a0001c0001t0006g0132 a0001c0001t0006g0145 a0001c0001t0006g0156 a0001c0001t0006g0161 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0006g0168 a0001c0001t0006g0174 a0001c0001t0006g0206 a0001c0001t0007g0021 a0001c0001t0007g0165 a0001c0001t0008g0177 a0001c0001t0009g0019 a0001c0001t0010g0107 a0001c0001t0011g0050 a0001c0001t0011g0094 a0001c0001t0011g0111 a0001c0001t0012g0117 a0001c0001t0013g0175 a0001c0001t0014g0053 a0001c0001t0015g0104 a0001c0001t0015g0140 a0001c0001t0016g0046 a0001c0001t0017g0098 a0001c0001t0017g0099 a0001c0001t0018g0202 a0001c0001t0021g0110 a0001c0001t0022g0093 a0001c0001t0027g0176 a0001c0001t0028g0105 a0001c0001t0029g0097 a0001c0001t0030g0169 a0001c0001t0031g0100 a0001c0001t0034g0203 a0001c0001t0038g0173 a0001c0001t0041g0137 a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0072 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0002g0003 a0002c0002t0002g0023 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0058 a0002c0002t0002g0061 a0002c0002t0002g0067 a0002c0002t0002g0074 a0002c0002t0003g0022 a0002c0002t0003g0026 a0002c0002t0005g0056 a0002c0002t0006g0057 a0002c0002t0006g0069 a0002c0002t0008g0010 a0002c0002t0008g0060 a0002c0002t0008g0065 a0002c0002t0024g0085 a0002c0002t0042g0071 a0002c0010t0002g0012 a0004c0004t0001g0004 a0004c0004t0001g0044 a0004c0004t0001g0045 a0004c0004t0001g0116 a0004c0004t0001g0127 a0004c0004t0001g0128 a0004c0004t0001g0129 a0004c0004t0001g0139 a0004c0004t0003g0018 a0004c0004t0003g0126 a0004c0004t0003g0200 a0004c0004t0004g0123 a0004c0004t0005g0120 a0004c0004t0006g0121 a0004c0004t0006g0125 a0004c0004t0008g0122 a0004c0004t0010g0118 a0004c0004t0010g0207 a0004c0004t0033g0119 a0005c0005t0001g0015 a0005c0005t0001g0032 a0005c0005t0001g0054 a0005c0005t0001g0152 a0005c0005t0001g0153 a0005c0005t0001g0194 a0005c0005t0002g0147 a0005c0005t0002g0205 a0005c0005t0004g0199 a0005c0005t0005g0033 a0005c0005t0005g0146 a0005c0005t0005g0149 a0005c0005t0006g0150 a0005c0005t0010g0136 a0005c0005t0010g0184 a0005c0005t0019g0183 a0005c0005t0023g0148 a0005c0005t0036g0190 a0005c0005t0043g0196 a0006c0006t0001g0078 a0006c0006t0001g0084 a0006c0006t0002g0079 a0006c0006t0004g0038 a0006c0006t0004g0055 a0006c0006t0004g0075 a0006c0006t0004g0081 a0006c0006t0007g0037 a0006c0006t0007g0080 a0006c0006t0025g0077 a0008c0008t0007g0042 a0008c0008t0007g0043 a0008c0008t0010g0112 a0008c0008t0011g0115 a0008c0008t0013g0109 a0008c0008t0032g0114 a0008c0008t0039g0095 a0008c0008t0040g0113 a0010c0011t0004g0089 a0010c0011t0007g0027 a0010c0018t0002g0092 a0014c0015t0012g0036 a0015c0016t0001g0103 a0015c0016t0004g0102 a0016c0017t0001g0091 a0018c0020t0001g0189	349	438	0.7968	c.829 others(3): Show c.829G>A	p.Glu others(6): Show p.Glu277Lys	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding	5/5	860/4108	829/1149	277/382	chr5	TogoVar
AMACR_chr5_33981165_34013050	33989460	A A	G G	missense_variant missense_variant	MODERATE	HG01099.hp1 HG02895.hp2 HG02897.hp2 others(3): Show HG01099.hp1 HG02895.hp2 HG02897.hp2 HG03225.hp1 HG03579.hp2 NA18906.hp1	a0014 a0015 a0016 others(1): Show a0014 a0015 a0016 a0018	a0014c0015 a0015c0016 a0016c0017 others(1): Show a0014c0015 a0015c0016 a0016c0017 a0018c0020	a0014c0015t0012 a0015c0016t0001 a0015c0016t0004 others(2): Show a0014c0015t0012 a0015c0016t0001 a0015c0016t0004 a0016c0017t0001 a0018c0020t0001	a0014c0015t0012g0036 a0015c0016t0001g0103 a0015c0016t0004g0102 others(2): Show a0014c0015t0012g0036 a0015c0016t0001g0103 a0015c0016t0004g0102 a0016c0017t0001g0091 a0018c0020t0001g0189	6	438	0.0137	c.782 others(3): Show c.782T>C	p.Met others(6): Show p.Met261Thr	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding	5/5	813/4108	782/1149	261/382	chr5	TogoVar
AMACR_chr5_33981165_34013050	33998663	C C	A A	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00544.hp2 HG00621.hp2 others(40): Show HG00323.hp2 HG00544.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG01070.hp1 HG01192.hp1 HG02027.hp2 HG02074.hp2 HG02083.hp1 HG02135.hp1 HG02257.hp1 HG02683.hp1 HG02818.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03688.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18944.hp2 NA18957.hp1 NA18961.hp2 NA18966.hp1 NA18970.hp2 NA18977.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA18995.hp1 NA19000.hp1 NA19007.hp2 NA19056.hp1 NA19060.hp2 NA19072.hp2 NA19074.hp1 NA19078.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0004 a0012 a0004 a0012	a0004c0004 a0012c0013 a0004c0004 a0012c0013	a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 others(7): Show a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 a0004c0004t0005 a0004c0004t0006 a0004c0004t0008 a0004c0004t0010 a0004c0004t0033 a0012c0013t0003 a0012c0013t0026	a0004c0004t0001g0004 a0004c0004t0001g0044 a0004c0004t0001g0045 others(18): Show a0004c0004t0001g0004 a0004c0004t0001g0044 a0004c0004t0001g0045 a0004c0004t0001g0116 a0004c0004t0001g0127 a0004c0004t0001g0128 a0004c0004t0001g0129 a0004c0004t0001g0139 a0004c0004t0003g0018 a0004c0004t0003g0126 a0004c0004t0003g0200 a0004c0004t0004g0123 a0004c0004t0005g0120 a0004c0004t0006g0121 a0004c0004t0006g0125 a0004c0004t0008g0122 a0004c0004t0010g0118 a0004c0004t0010g0207 a0004c0004t0033g0119 a0012c0013t0003g0028 a0012c0013t0026g0124	43	438	0.0982	c.717 others(3): Show c.717G>T	p.Gln others(6): Show p.Gln239His	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding	4/5	748/4108	717/1149	239/382	chr5	TogoVar
AMACR_chr5_33981165_34013050	33998668	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02055.hp1 HG02717.hp1 others(7): Show HG01884.hp2 HG02055.hp1 HG02717.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03130.hp2 HG03579.hp1 NA19240.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0007 a0008c0008t0010 a0008c0008t0011 others(4): Show a0008c0008t0007 a0008c0008t0010 a0008c0008t0011 a0008c0008t0013 a0008c0008t0032 a0008c0008t0039 a0008c0008t0040	a0008c0008t0007g0042 a0008c0008t0007g0043 a0008c0008t0010g0112 others(5): Show a0008c0008t0007g0042 a0008c0008t0007g0043 a0008c0008t0010g0112 a0008c0008t0011g0115 a0008c0008t0013g0109 a0008c0008t0032g0114 a0008c0008t0039g0095 a0008c0008t0040g0113	10	438	0.0228	c.712 others(3): Show c.712C>T	p.Pro others(6): Show p.Pro238Ser	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding	4/5	743/4108	712/1149	238/382	chr5	TogoVar
AMACR_chr5_33981165_34013050	33998778	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(348): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 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 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(11): Show a0001 a0002 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0002c0002 a0002c0010 others(13): Show a0001c0001 a0002c0002 a0002c0010 a0004c0004 a0006c0006 a0007c0007 a0008c0008 a0009c0009 a0010c0011 a0010c0018 a0011c0012 a0012c0013 a0013c0014 a0014c0015 a0015c0016 a0016c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(76): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0038 a0001c0001t0041 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0024 a0002c0002t0042 a0002c0010t0002 a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 a0004c0004t0005 a0004c0004t0006 a0004c0004t0008 a0004c0004t0010 a0004c0004t0033 a0006c0006t0001 a0006c0006t0002 a0006c0006t0004 a0006c0006t0007 a0006c0006t0025 a0007c0007t0001 a0007c0007t0002 a0007c0007t0003 a0007c0007t0004 a0008c0008t0007 a0008c0008t0010 a0008c0008t0011 a0008c0008t0013 a0008c0008t0032 a0008c0008t0039 a0008c0008t0040 a0009c0009t0002 a0009c0009t0003 a0009c0009t0004 a0009c0009t0006 a0010c0011t0004 a0010c0011t0007 a0010c0018t0002 a0011c0012t0002 a0011c0012t0009 a0011c0012t0020 a0012c0013t0003 a0012c0013t0026 a0013c0014t0001 a0013c0014t0035 a0014c0015t0012 a0015c0016t0001 a0015c0016t0004 a0016c0017t0001	a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0096 others(158): Show a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0096 a0001c0001t0001g0108 a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0002g0014 a0001c0001t0002g0029 a0001c0001t0002g0048 a0001c0001t0002g0204 a0001c0001t0003g0106 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0005g0001 a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0141 a0001c0001t0005g0143 a0001c0001t0005g0167 a0001c0001t0005g0171 a0001c0001t0005g0201 a0001c0001t0006g0006 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0049 a0001c0001t0006g0051 a0001c0001t0006g0132 a0001c0001t0006g0145 a0001c0001t0006g0156 a0001c0001t0006g0161 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0006g0168 a0001c0001t0006g0174 a0001c0001t0006g0206 a0001c0001t0007g0021 a0001c0001t0007g0165 a0001c0001t0008g0177 a0001c0001t0009g0019 a0001c0001t0010g0107 a0001c0001t0011g0050 a0001c0001t0011g0094 a0001c0001t0011g0111 a0001c0001t0012g0117 a0001c0001t0013g0175 a0001c0001t0014g0053 a0001c0001t0015g0104 a0001c0001t0015g0140 a0001c0001t0016g0046 a0001c0001t0017g0098 a0001c0001t0017g0099 a0001c0001t0018g0202 a0001c0001t0021g0110 a0001c0001t0022g0093 a0001c0001t0027g0176 a0001c0001t0028g0105 a0001c0001t0029g0097 a0001c0001t0030g0169 a0001c0001t0031g0100 a0001c0001t0034g0203 a0001c0001t0038g0173 a0001c0001t0041g0137 a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0072 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0002g0003 a0002c0002t0002g0023 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0058 a0002c0002t0002g0061 a0002c0002t0002g0067 a0002c0002t0002g0074 a0002c0002t0003g0022 a0002c0002t0003g0026 a0002c0002t0005g0056 a0002c0002t0006g0057 a0002c0002t0006g0069 a0002c0002t0008g0010 a0002c0002t0008g0060 a0002c0002t0008g0065 a0002c0002t0024g0085 a0002c0002t0042g0071 a0002c0010t0002g0012 a0004c0004t0001g0004 a0004c0004t0001g0044 a0004c0004t0001g0045 a0004c0004t0001g0116 a0004c0004t0001g0127 a0004c0004t0001g0128 a0004c0004t0001g0129 a0004c0004t0001g0139 a0004c0004t0003g0018 a0004c0004t0003g0126 a0004c0004t0003g0200 a0004c0004t0004g0123 a0004c0004t0005g0120 a0004c0004t0006g0121 a0004c0004t0006g0125 a0004c0004t0008g0122 a0004c0004t0010g0118 a0004c0004t0010g0207 a0004c0004t0033g0119 a0006c0006t0001g0078 a0006c0006t0001g0084 a0006c0006t0002g0079 a0006c0006t0004g0038 a0006c0006t0004g0055 a0006c0006t0004g0075 a0006c0006t0004g0081 a0006c0006t0007g0037 a0006c0006t0007g0080 a0006c0006t0025g0077 a0007c0007t0001g0066 a0007c0007t0002g0068 a0007c0007t0003g0064 a0007c0007t0004g0013 a0007c0007t0004g0062 a0007c0007t0004g0070 a0007c0007t0004g0073 a0008c0008t0007g0042 a0008c0008t0007g0043 a0008c0008t0010g0112 a0008c0008t0011g0115 a0008c0008t0013g0109 a0008c0008t0032g0114 a0008c0008t0039g0095 a0008c0008t0040g0113 a0009c0009t0002g0166 a0009c0009t0003g0155 a0009c0009t0003g0158 a0009c0009t0003g0172 a0009c0009t0004g0047 a0009c0009t0004g0101 a0009c0009t0004g0164 a0009c0009t0006g0160 a0010c0011t0004g0089 a0010c0011t0007g0027 a0010c0018t0002g0092 a0011c0012t0002g0088 a0011c0012t0009g0039 a0011c0012t0020g0090 a0012c0013t0003g0028 a0012c0013t0026g0124 a0013c0014t0001g0082 a0013c0014t0001g0083 a0013c0014t0035g0076 a0014c0015t0012g0036 a0015c0016t0001g0103 a0015c0016t0004g0102 a0016c0017t0001g0091	351	438	0.8014	c.602 others(3): Show c.602T>C	p.Leu others(6): Show p.Leu201Ser	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding	4/5	633/4108	602/1149	201/382	chr5	TogoVar
AMACR_chr5_33981165_34013050	34004602	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00408.hp1 HG00438.hp1 others(117): Show HG00099.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG03471.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03942.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19010.hp2 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA20129.hp2 NA20905.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0002c0010 a0007c0007 a0002c0002 a0002c0010 a0007c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0024 a0002c0002t0042 a0002c0010t0002 a0007c0007t0001 a0007c0007t0002 a0007c0007t0003 a0007c0007t0004	a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0011 others(33): Show a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0072 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0002g0003 a0002c0002t0002g0023 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0058 a0002c0002t0002g0061 a0002c0002t0002g0067 a0002c0002t0002g0074 a0002c0002t0003g0022 a0002c0002t0003g0026 a0002c0002t0005g0056 a0002c0002t0006g0057 a0002c0002t0006g0069 a0002c0002t0008g0010 a0002c0002t0008g0060 a0002c0002t0008g0065 a0002c0002t0024g0085 a0002c0002t0042g0071 a0002c0010t0002g0012 a0007c0007t0001g0066 a0007c0007t0002g0068 a0007c0007t0003g0064 a0007c0007t0004g0013 a0007c0007t0004g0062 a0007c0007t0004g0070 a0007c0007t0004g0073	120	438	0.2740	c.524 others(3): Show c.524G>A	p.Gly others(6): Show p.Gly175Asp	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding	3/5	555/4108	524/1149	175/382	chr5	TogoVar
AMACR_chr5_33981165_34013050	34005794	C C	T T	missense_variant missense_variant	MODERATE	HG01243.hp2 HG01891.hp1 HG02109.hp2 others(7): Show HG01243.hp2 HG01891.hp1 HG02109.hp2 HG02451.hp1 HG02615.hp2 HG02647.hp2 HG02886.hp1 HG03195.hp1 HG03579.hp2 NA21309.hp2	a0010 a0011 a0016 a0010 a0011 a0016	a0010c0011 a0010c0018 a0011c0012 others(1): Show a0010c0011 a0010c0018 a0011c0012 a0016c0017	a0010c0011t0004 a0010c0011t0007 a0010c0018t0002 others(4): Show a0010c0011t0004 a0010c0011t0007 a0010c0018t0002 a0011c0012t0002 a0011c0012t0009 a0011c0012t0020 a0016c0017t0001	a0010c0011t0004g0089 a0010c0011t0007g0027 a0010c0018t0002g0092 others(4): Show a0010c0011t0004g0089 a0010c0011t0007g0027 a0010c0018t0002g0092 a0011c0012t0002g0088 a0011c0012t0009g0039 a0011c0012t0020g0090 a0016c0017t0001g0091	10	438	0.0228	c.353 others(3): Show c.353G>A	p.Arg others(6): Show p.Arg118Gln	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding	2/5	384/4108	353/1149	118/382	chr5	TogoVar
AMACR_chr5_33981165_34013050	34007995	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00408.hp1 HG00438.hp1 others(134): Show HG00099.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03942.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19010.hp2 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA20129.hp2 NA20905.hp2	a0002 a0006 a0007 others(2): Show a0002 a0006 a0007 a0013 a0014	a0002c0002 a0002c0010 a0006c0006 others(3): Show a0002c0002 a0002c0010 a0006c0006 a0007c0007 a0013c0014 a0014c0015	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(18): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0024 a0002c0002t0042 a0002c0010t0002 a0006c0006t0001 a0006c0006t0002 a0006c0006t0004 a0006c0006t0007 a0006c0006t0025 a0007c0007t0001 a0007c0007t0002 a0007c0007t0003 a0007c0007t0004 a0013c0014t0001 a0013c0014t0035 a0014c0015t0012	a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0011 others(47): Show a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0072 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0002g0003 a0002c0002t0002g0023 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0058 a0002c0002t0002g0061 a0002c0002t0002g0067 a0002c0002t0002g0074 a0002c0002t0003g0022 a0002c0002t0003g0026 a0002c0002t0005g0056 a0002c0002t0006g0057 a0002c0002t0006g0069 a0002c0002t0008g0010 a0002c0002t0008g0060 a0002c0002t0008g0065 a0002c0002t0024g0085 a0002c0002t0042g0071 a0002c0010t0002g0012 a0006c0006t0001g0078 a0006c0006t0001g0084 a0006c0006t0002g0079 a0006c0006t0004g0038 a0006c0006t0004g0055 a0006c0006t0004g0075 a0006c0006t0004g0081 a0006c0006t0007g0037 a0006c0006t0007g0080 a0006c0006t0025g0077 a0007c0007t0001g0066 a0007c0007t0002g0068 a0007c0007t0003g0064 a0007c0007t0004g0013 a0007c0007t0004g0062 a0007c0007t0004g0070 a0007c0007t0004g0073 a0013c0014t0001g0082 a0013c0014t0001g0083 a0013c0014t0035g0076 a0014c0015t0012g0036	137	438	0.3128	c.25G others(2): Show c.25G>A	p.Val others(4): Show p.Val9Met	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding	1/5	56/4108	25/1149	9/382	chr5	TogoVar
AMBN_chr4_70587256_70612288	70599578	A A	G G	missense_variant missense_variant	MODERATE	NA19074.hp2 NA19074.hp2	a0023 a0023	a0023c0034 a0023c0034	a0023c0034t0003 a0023c0034t0003	a0023c0034t0003g0003 a0023c0034t0003g0003	1	480	0.0021	c.226 others(3): Show c.226A>G	p.Met others(5): Show p.Met76Val	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	5/13	329/2005	226/1344	76/447	chr4	TogoVar
AMBN_chr4_70587256_70612288	70599580	G G	T T	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02896.hp2 HG02897.hp1 HG02109.hp1 HG02896.hp2 HG02897.hp1	a0010 a0014 a0010 a0014	a0010c0019 a0014c0033 a0010c0019 a0014c0033	a0010c0019t0002 a0014c0033t0001 a0010c0019t0002 a0014c0033t0001	a0010c0019t0002g0063 a0014c0033t0001g0206 a0010c0019t0002g0063 a0014c0033t0001g0206	3	480	0.0063	c.228 others(3): Show c.228G>T	p.Met others(5): Show p.Met76Ile	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	5/13	331/2005	228/1344	76/447	chr4	TogoVar

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