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
ASNSD1_chr2_189656459_189675831	189666321	G G	A A	synonymous_variant synonymous_variant	LOW	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0002 a0001c0007t0002g0002	1	340	0.0029	c.189 others(3): Show c.189G>A	p.Gln others(5): Show p.Gln63Gln	ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	4/6	563/2411	189/1932	63/643	chr2	TogoVar
ASNSD1_chr2_189656459_189675831	189666471	A A	C C	synonymous_variant synonymous_variant	LOW	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0086 a0001c0011t0001g0086	1	340	0.0029	c.339 others(3): Show c.339A>C	p.Ser others(6): Show p.Ser113Ser	ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	4/6	713/2411	339/1932	113/643	chr2	TogoVar
ASNSD1_chr2_189656459_189675831	189666889	T T	C C	synonymous_variant synonymous_variant	LOW	HG00423.hp1 HG00544.hp2 HG00597.hp1 others(70): Show HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00673.hp2 HG00733.hp2 HG01069.hp1 HG01081.hp2 HG01346.hp1 HG01891.hp1 HG01928.hp2 HG01981.hp1 HG02004.hp2 HG02055.hp1 HG02148.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp1 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18953.hp2 NA18959.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp2 NA18980.hp2 NA18982.hp2 NA18988.hp1 NA19001.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19064.hp1 NA19068.hp2 NA19072.hp2 NA19075.hp2 NA19086.hp2 NA19089.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0002 a0001c0008 a0003c0004 others(1): Show a0001c0002 a0001c0008 a0003c0004 a0006c0009	a0001c0002t0001 a0001c0002t0003 a0001c0008t0001 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0008t0001 a0003c0004t0001 a0006c0009t0001	a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0014 others(47): Show a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0095 a0001c0002t0003g0018 a0001c0008t0001g0030 a0003c0004t0001g0123 a0003c0004t0001g0124 a0003c0004t0001g0125 a0003c0004t0001g0126 a0006c0009t0001g0027	73	340	0.2147	c.757 others(3): Show c.757T>C	p.Leu others(6): Show p.Leu253Leu	ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	4/6	1131/2411	757/1932	253/643	chr2	TogoVar
ASNSD1_chr2_189656459_189675831	189667353	C C	A A	synonymous_variant synonymous_variant	LOW	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0030 a0001c0008t0001g0030	1	340	0.0029	c.122 others(4): Show c.1221C>A	p.Ile others(6): Show p.Ile407Ile	ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	4/6	1595/2411	1221/1932	407/643	chr2	TogoVar
ASNSD1_chr2_189656459_189675831	189667488	G G	A A	synonymous_variant synonymous_variant	LOW	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0122 a0001c0010t0001g0122	1	340	0.0029	c.135 others(4): Show c.1356G>A	p.Leu others(6): Show p.Leu452Leu	ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	4/6	1730/2411	1356/1932	452/643	chr2	TogoVar
ASNS_chr7_97846677_97877408	97852358	C C	T T	synonymous_variant synonymous_variant	LOW	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0100 a0001c0008t0001g0100	1	436	0.0023	c.158 others(4): Show c.1587G>A	p.Arg others(6): Show p.Arg529Arg	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	13/13	1704/2385	1587/1686	529/561	chr7	TogoVar
ASNS_chr7_97846677_97877408	97854609	G G	C C	synonymous_variant synonymous_variant	LOW	HG01069.hp1 HG01099.hp1 HG01109.hp2 others(3): Show HG01069.hp1 HG01099.hp1 HG01109.hp2 HG01168.hp2 HG01934.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0014 a0001c0003t0003g0174 a0001c0003t0003g0014 a0001c0003t0003g0174	6	436	0.0138	c.120 others(4): Show c.1209C>G	p.Leu others(6): Show p.Leu403Leu	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	10/13	1326/2385	1209/1686	403/561	chr7	TogoVar
ASNS_chr7_97846677_97877408	97859295	T T	G G	synonymous_variant synonymous_variant	LOW	NA18747.hp1 NA18966.hp1 NA19076.hp2 NA18747.hp1 NA18966.hp1 NA19076.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0187 a0001c0006t0001g0197 a0001c0006t0001g0199 a0001c0006t0001g0187 a0001c0006t0001g0197 a0001c0006t0001g0199	3	436	0.0069	c.591 others(3): Show c.591A>C	p.Ala others(6): Show p.Ala197Ala	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	5/13	708/2385	591/1686	197/561	chr7	TogoVar
ASNS_chr7_97846677_97877408	97869013	G G	A A	synonymous_variant synonymous_variant	LOW	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0225 a0003c0012t0001g0225	1	436	0.0023	c.144 others(3): Show c.144C>T	p.His others(5): Show p.His48His	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	3/13	261/2385	144/1686	48/561	chr7	TogoVar
ASNS_chr7_97846677_97877408	97869121	A A	G G	synonymous_variant synonymous_variant	LOW	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0110 a0001c0007t0001g0110	1	436	0.0023	c.36T others(2): Show c.36T>C	p.Asp others(5): Show p.Asp12Asp	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	3/13	153/2385	36/1686	12/561	chr7	TogoVar
ASNS_chr7_97846677_97877408	97869139	C C	T T	synonymous_variant synonymous_variant	LOW	HG01993.hp2 HG03471.hp1 HG03831.hp1 others(2): Show HG01993.hp2 HG03471.hp1 HG03831.hp1 NA18991.hp2 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0003 a0001c0004t0006 a0001c0004t0001 a0001c0004t0003 a0001c0004t0006	a0001c0004t0001g0177 a0001c0004t0003g0055 a0001c0004t0006g0054 a0001c0004t0001g0177 a0001c0004t0003g0055 a0001c0004t0006g0054	5	436	0.0115	c.18G others(2): Show c.18G>A	p.Ala others(4): Show p.Ala6Ala	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	3/13	135/2385	18/1686	6/561	chr7	TogoVar
ASPA_chr17_3470997_3508405	3494408	C C	T T	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG00323.hp2 HG00597.hp1 others(66): Show HG00140.hp2 HG00323.hp2 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp2 HG01074.hp1 HG01106.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03704.hp1 HG03831.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18943.hp2 NA18953.hp2 NA18972.hp2 NA18982.hp2 NA18987.hp1 NA18994.hp1 NA19006.hp1 NA19030.hp2 NA19058.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(9): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0002t0017 a0001c0002t0019 a0001c0002t0033 a0001c0002t0045	a0001c0002t0002g0058 a0001c0002t0002g0113 a0001c0002t0002g0117 others(55): Show a0001c0002t0002g0058 a0001c0002t0002g0113 a0001c0002t0002g0117 a0001c0002t0002g0207 a0001c0002t0002g0220 a0001c0002t0002g0245 a0001c0002t0002g0313 a0001c0002t0002g0325 a0001c0002t0003g0268 a0001c0002t0004g0040 a0001c0002t0004g0346 a0001c0002t0005g0014 a0001c0002t0005g0019 a0001c0002t0005g0042 a0001c0002t0005g0046 a0001c0002t0005g0063 a0001c0002t0005g0074 a0001c0002t0005g0077 a0001c0002t0005g0078 a0001c0002t0005g0085 a0001c0002t0005g0096 a0001c0002t0005g0154 a0001c0002t0005g0163 a0001c0002t0005g0170 a0001c0002t0005g0183 a0001c0002t0005g0198 a0001c0002t0005g0216 a0001c0002t0005g0237 a0001c0002t0005g0262 a0001c0002t0005g0286 a0001c0002t0005g0331 a0001c0002t0005g0342 a0001c0002t0006g0013 a0001c0002t0006g0015 a0001c0002t0006g0112 a0001c0002t0006g0191 a0001c0002t0006g0199 a0001c0002t0006g0201 a0001c0002t0006g0282 a0001c0002t0006g0291 a0001c0002t0007g0014 a0001c0002t0007g0016 a0001c0002t0007g0046 a0001c0002t0007g0138 a0001c0002t0007g0200 a0001c0002t0007g0215 a0001c0002t0007g0281 a0001c0002t0007g0292 a0001c0002t0007g0307 a0001c0002t0007g0324 a0001c0002t0007g0345 a0001c0002t0008g0137 a0001c0002t0008g0350 a0001c0002t0013g0145 a0001c0002t0017g0045 a0001c0002t0019g0370 a0001c0002t0033g0238 a0001c0002t0045g0371	69	450	0.1533	c.693 others(3): Show c.693C>T	p.Tyr others(6): Show p.Tyr231Tyr	ASPA	ENSG00000108381.11	transcript	ENST00000263080.3	protein_coding	5/6	856/5422	693/942	231/313	chr17	TogoVar
ASPA_chr17_3470997_3508405	3498977	C C	T T	synonymous_variant synonymous_variant	LOW	HG00735.hp2 HG01358.hp2 HG02004.hp1 others(4): Show HG00735.hp2 HG01358.hp2 HG02004.hp1 HG02273.hp1 HG02300.hp1 NA18747.hp1 NA18948.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0022 a0001c0003t0002g0127 others(3): Show a0001c0003t0002g0003 a0001c0003t0002g0022 a0001c0003t0002g0127 a0001c0003t0002g0231 a0001c0003t0002g0257 a0001c0003t0002g0300	7	450	0.0156	c.831 others(3): Show c.831C>T	p.Thr others(6): Show p.Thr277Thr	ASPA	ENSG00000108381.11	transcript	ENST00000263080.3	protein_coding	6/6	994/5422	831/942	277/313	chr17	TogoVar
ASPDH_chr19_50506603_50518913	50512170	G G	A A	synonymous_variant synonymous_variant	LOW	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0022 a0001c0008t0001g0022	1	372	0.0027	c.774 others(3): Show c.774C>T	p.Ser others(6): Show p.Ser258Ser	ASPDH	ENSG00000204653.10	transcript	ENST00000389208.9	protein_coding	6/7	864/1069	774/852	258/283	chr19	TogoVar
ASPDH_chr19_50506603_50518913	50513806	C C	T T	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0016	1	372	0.0027	c.18G others(2): Show c.18G>A	p.Pro others(4): Show p.Pro6Pro	ASPDH	ENSG00000204653.10	transcript	ENST00000389208.9	protein_coding	1/7	108/1069	18/852	6/283	chr19	TogoVar
ASPG_chr14_104080700_104120582	104085812	C C	G G	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0136 a0001c0027t0001g0136	1	368	0.0027	c.42C others(2): Show c.42C>G	p.Val others(5): Show p.Val14Val	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	1/16	113/4831	42/1722	14/573	chr14	TogoVar
ASPG_chr14_104080700_104120582	104085818	C C	T T	synonymous_variant synonymous_variant	LOW	HG02258.hp2 HG02280.hp2 HG02965.hp2 HG02258.hp2 HG02280.hp2 HG02965.hp2	a0002 a0002	a0002c0010 a0002c0026 a0002c0010 a0002c0026	a0002c0010t0002 a0002c0026t0006 a0002c0010t0002 a0002c0026t0006	a0002c0010t0002g0046 a0002c0026t0006g0220 a0002c0010t0002g0046 a0002c0026t0006g0220	3	368	0.0082	c.48C others(2): Show c.48C>T	p.Thr others(5): Show p.Thr16Thr	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	1/16	119/4831	48/1722	16/573	chr14	TogoVar
ASPG_chr14_104080700_104120582	104093515	T T	C C	synonymous_variant synonymous_variant	LOW	HG00280.hp2 HG00558.hp2 HG00609.hp2 others(155): Show HG00280.hp2 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18993.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19066.hp1 NA19067.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0008 a0009 others(3): Show a0002 a0008 a0009 a0010 a0011 a0012	a0002c0002 a0002c0003 a0002c0005 others(9): Show a0002c0002 a0002c0003 a0002c0005 a0002c0010 a0002c0013 a0002c0016 a0002c0026 a0008c0017 a0009c0014 a0010c0015 a0011c0011 a0012c0012	a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 others(30): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0013 a0002c0002t0015 a0002c0002t0019 a0002c0002t0022 a0002c0002t0027 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0003t0007 a0002c0003t0009 a0002c0003t0010 a0002c0003t0011 a0002c0003t0016 a0002c0003t0017 a0002c0003t0018 a0002c0003t0021 a0002c0003t0037 a0002c0003t0038 a0002c0005t0002 a0002c0005t0008 a0002c0010t0002 a0002c0013t0039 a0002c0016t0006 a0002c0026t0006 a0008c0017t0003 a0009c0014t0017 a0010c0015t0002 a0011c0011t0023 a0012c0012t0023	a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0006 others(107): Show a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0009 a0002c0002t0002g0018 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0053 a0002c0002t0002g0161 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0214 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0005g0176 a0002c0002t0008g0043 a0002c0002t0013g0188 a0002c0002t0013g0197 a0002c0002t0013g0198 a0002c0002t0015g0040 a0002c0002t0015g0160 a0002c0002t0019g0174 a0002c0002t0019g0230 a0002c0002t0022g0038 a0002c0002t0027g0204 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0044 a0002c0003t0001g0054 a0002c0003t0001g0196 a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0216 a0002c0003t0001g0234 a0002c0003t0002g0010 a0002c0003t0002g0178 a0002c0003t0002g0207 a0002c0003t0005g0022 a0002c0003t0005g0055 a0002c0003t0005g0056 a0002c0003t0005g0057 a0002c0003t0005g0058 a0002c0003t0005g0184 a0002c0003t0006g0049 a0002c0003t0006g0050 a0002c0003t0006g0051 a0002c0003t0006g0239 a0002c0003t0006g0240 a0002c0003t0006g0241 a0002c0003t0007g0236 a0002c0003t0009g0042 a0002c0003t0009g0179 a0002c0003t0009g0182 a0002c0003t0009g0183 a0002c0003t0009g0227 a0002c0003t0010g0159 a0002c0003t0010g0238 a0002c0003t0011g0166 a0002c0003t0016g0163 a0002c0003t0016g0167 a0002c0003t0016g0170 a0002c0003t0017g0162 a0002c0003t0017g0171 a0002c0003t0018g0177 a0002c0003t0018g0181 a0002c0003t0021g0180 a0002c0003t0021g0185 a0002c0003t0037g0169 a0002c0003t0038g0165 a0002c0005t0002g0041 a0002c0005t0002g0175 a0002c0005t0002g0223 a0002c0005t0008g0213 a0002c0005t0008g0228 a0002c0010t0002g0046 a0002c0013t0039g0168 a0002c0016t0006g0212 a0002c0026t0006g0220 a0008c0017t0003g0229 a0009c0014t0017g0164 a0010c0015t0002g0235 a0011c0011t0023g0154 a0012c0012t0023g0237	158	368	0.4294	c.216 others(3): Show c.216T>C	p.Ile others(5): Show p.Ile72Ile	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	3/16	287/4831	216/1722	72/573	chr14	TogoVar
ASPG_chr14_104080700_104120582	104095551	C C	T T	synonymous_variant synonymous_variant	LOW	HG02615.hp2 HG02976.hp2 HG03453.hp1 others(2): Show HG02615.hp2 HG02976.hp2 HG03453.hp1 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0008 a0001c0007t0002 a0001c0007t0008	a0001c0007t0002g0248 a0001c0007t0008g0067 a0001c0007t0008g0079 others(2): Show a0001c0007t0002g0248 a0001c0007t0008g0067 a0001c0007t0008g0079 a0001c0007t0008g0080 a0001c0007t0008g0247	5	368	0.0136	c.324 others(3): Show c.324C>T	p.His others(6): Show p.His108His	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	4/16	395/4831	324/1722	108/573	chr14	TogoVar
ASPG_chr14_104080700_104120582	104095599	G G	C C	synonymous_variant synonymous_variant	LOW	HG02486.hp1 HG03098.hp1 HG02486.hp1 HG03098.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0005 a0003c0009t0005	a0003c0009t0005g0077 a0003c0009t0005g0099 a0003c0009t0005g0077 a0003c0009t0005g0099	2	368	0.0054	c.372 others(3): Show c.372G>C	p.Ser others(6): Show p.Ser124Ser	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	4/16	443/4831	372/1722	124/573	chr14	TogoVar
ASPG_chr14_104080700_104120582	104097595	G G	T T	synonymous_variant synonymous_variant	LOW	HG00558.hp2 HG00609.hp2 HG00673.hp2 others(103): Show HG00558.hp2 HG00609.hp2 HG00673.hp2 HG00738.hp2 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18993.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19066.hp1 NA19067.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0006 a0001c0007 a0002c0002 others(5): Show a0001c0006 a0001c0007 a0002c0002 a0002c0005 a0002c0010 a0002c0016 a0003c0025 a0008c0017	a0001c0006t0002 a0001c0006t0028 a0001c0007t0002 others(15): Show a0001c0006t0002 a0001c0006t0028 a0001c0007t0002 a0001c0007t0008 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0013 a0002c0002t0015 a0002c0002t0019 a0002c0002t0022 a0002c0002t0027 a0002c0005t0002 a0002c0005t0008 a0002c0010t0002 a0002c0016t0006 a0003c0025t0003 a0008c0017t0003	a0001c0006t0002g0033 a0001c0006t0002g0125 a0001c0006t0002g0126 others(67): Show a0001c0006t0002g0033 a0001c0006t0002g0125 a0001c0006t0002g0126 a0001c0006t0028g0143 a0001c0007t0002g0248 a0001c0007t0008g0067 a0001c0007t0008g0079 a0001c0007t0008g0080 a0001c0007t0008g0247 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0009 a0002c0002t0002g0018 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0053 a0002c0002t0002g0161 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0214 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0005g0176 a0002c0002t0008g0043 a0002c0002t0013g0188 a0002c0002t0013g0197 a0002c0002t0013g0198 a0002c0002t0015g0040 a0002c0002t0015g0160 a0002c0002t0019g0174 a0002c0002t0019g0230 a0002c0002t0022g0038 a0002c0002t0027g0204 a0002c0005t0002g0041 a0002c0005t0002g0175 a0002c0005t0002g0223 a0002c0005t0008g0213 a0002c0005t0008g0228 a0002c0010t0002g0046 a0002c0016t0006g0212 a0003c0025t0003g0084 a0008c0017t0003g0229	106	368	0.2880	c.471 others(3): Show c.471G>T	p.Leu others(6): Show p.Leu157Leu	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/16	542/4831	471/1722	157/573	chr14	TogoVar
ASPG_chr14_104080700_104120582	104098909	C C	T T	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0011 a0001c0024t0011	a0001c0024t0011g0060 a0001c0024t0011g0060	1	368	0.0027	c.570 others(3): Show c.570C>T	p.Asp others(6): Show p.Asp190Asp	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	6/16	641/4831	570/1722	190/573	chr14	TogoVar
ASPG_chr14_104080700_104120582	104103591	C C	T T	synonymous_variant synonymous_variant	LOW	HG02109.hp1 HG02809.hp1 HG02970.hp2 others(3): Show HG02109.hp1 HG02809.hp1 HG02970.hp2 HG03041.hp2 HG03225.hp1 NA20129.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0008 a0002c0005t0002 a0002c0005t0008	a0002c0005t0002g0041 a0002c0005t0002g0175 a0002c0005t0002g0223 others(2): Show a0002c0005t0002g0041 a0002c0005t0002g0175 a0002c0005t0002g0223 a0002c0005t0008g0213 a0002c0005t0008g0228	6	368	0.0163	c.669 others(3): Show c.669C>T	p.Asp others(6): Show p.Asp223Asp	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	7/16	740/4831	669/1722	223/573	chr14	TogoVar
ASPG_chr14_104080700_104120582	104103597	G G	A A	synonymous_variant synonymous_variant	LOW	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0034 a0001c0018t0001g0034	1	368	0.0027	c.675 others(3): Show c.675G>A	p.Lys others(6): Show p.Lys225Lys	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	7/16	746/4831	675/1722	225/573	chr14	TogoVar
ASPG_chr14_104080700_104120582	104104396	G G	A A	synonymous_variant synonymous_variant	LOW	HG02451.hp2 HG02809.hp2 HG02451.hp2 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0019 a0002c0013 a0001c0019 a0002c0013	a0001c0019t0010 a0002c0013t0039 a0001c0019t0010 a0002c0013t0039	a0001c0019t0010g0245 a0002c0013t0039g0168 a0001c0019t0010g0245 a0002c0013t0039g0168	2	368	0.0054	c.846 others(3): Show c.846G>A	p.Glu others(6): Show p.Glu282Glu	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	8/16	917/4831	846/1722	282/573	chr14	TogoVar
ASPG_chr14_104080700_104120582	104104429	C C	T T	synonymous_variant synonymous_variant	LOW	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0068 a0001c0022t0001g0068	1	368	0.0027	c.879 others(3): Show c.879C>T	p.Ile others(6): Show p.Ile293Ile	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	8/16	950/4831	879/1722	293/573	chr14	TogoVar
ASPG_chr14_104080700_104120582	104109253	G G	C C	synonymous_variant synonymous_variant	LOW	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0006 a0002c0016t0006	a0002c0016t0006g0212 a0002c0016t0006g0212	1	368	0.0027	c.145 others(4): Show c.1458G>C	p.Leu others(6): Show p.Leu486Leu	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	13/16	1529/4831	1458/1722	486/573	chr14	TogoVar
ASPG_chr14_104080700_104120582	104109268	C C	T T	synonymous_variant synonymous_variant	LOW	HG02897.hp2 HG02897.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0235 a0010c0015t0002g0235	1	368	0.0027	c.147 others(4): Show c.1473C>T	p.Ala others(6): Show p.Ala491Ala	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	13/16	1544/4831	1473/1722	491/573	chr14	TogoVar
ASPHD1_chr16_29895488_29911056	29901193	C C	T T	synonymous_variant synonymous_variant	LOW	HG02257.hp2 HG02451.hp2 HG02897.hp1 others(1): Show HG02257.hp2 HG02451.hp2 HG02897.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0003 a0001c0004t0001g0014 a0001c0004t0001g0003 a0001c0004t0001g0014	4	394	0.0102	c.222 others(3): Show c.222C>T	p.Pro others(5): Show p.Pro74Pro	ASPHD1	ENSG00000174939.11	transcript	ENST00000308748.10	protein_coding	1/3	706/1816	222/1173	74/390	chr16	TogoVar
ASPHD1_chr16_29895488_29911056	29901268	C C	G G	synonymous_variant synonymous_variant	LOW	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0001 a0001c0008t0001g0001	1	394	0.0025	c.297 others(3): Show c.297C>G	p.Gly others(5): Show p.Gly99Gly	ASPHD1	ENSG00000174939.11	transcript	ENST00000308748.10	protein_coding	1/3	781/1816	297/1173	99/390	chr16	TogoVar
ASPHD2_chr22_26424260_26450015	26433948	T T	C C	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG00639.hp2 HG00738.hp1 others(21): Show HG00140.hp2 HG00639.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG02486.hp2 HG02723.hp1 HG02818.hp2 HG02976.hp2 HG03041.hp2 HG03453.hp1 HG04199.hp2 NA18941.hp2 NA18953.hp1 NA18972.hp2 NA18985.hp1 NA18995.hp2 NA18999.hp1 NA19003.hp1 NA19066.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0002t0003 a0001c0002t0013 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0013 a0001c0002t0016 a0001c0002t0034 a0001c0006t0003	a0001c0002t0001g0009 a0001c0002t0001g0025 a0001c0002t0001g0163 others(11): Show a0001c0002t0001g0009 a0001c0002t0001g0025 a0001c0002t0001g0163 a0001c0002t0003g0009 a0001c0002t0003g0024 a0001c0002t0003g0158 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0013g0009 a0001c0002t0013g0159 a0001c0002t0016g0024 a0001c0002t0034g0088 a0001c0006t0003g0151	24	428	0.0561	c.333 others(3): Show c.333T>C	p.Pro others(6): Show p.Pro111Pro	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/4	784/3370	333/1110	111/369	chr22	TogoVar
ASPHD2_chr22_26424260_26450015	26434014	C C	T T	synonymous_variant synonymous_variant	LOW	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0169 a0001c0008t0005g0169	1	428	0.0023	c.399 others(3): Show c.399C>T	p.Tyr others(6): Show p.Tyr133Tyr	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/4	850/3370	399/1110	133/369	chr22	TogoVar
ASPHD2_chr22_26424260_26450015	26434350	G G	A A	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG00639.hp2 HG01070.hp2 others(20): Show HG00140.hp2 HG00639.hp2 HG01070.hp2 HG01071.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG02486.hp2 HG02723.hp1 HG02818.hp2 HG02976.hp2 HG03041.hp2 HG03453.hp1 HG04199.hp2 NA18941.hp2 NA18953.hp1 NA18972.hp2 NA18985.hp1 NA18995.hp2 NA18999.hp1 NA19003.hp1 NA19066.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0013 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0013 a0001c0002t0016 a0001c0002t0034	a0001c0002t0001g0009 a0001c0002t0001g0025 a0001c0002t0001g0163 others(10): Show a0001c0002t0001g0009 a0001c0002t0001g0025 a0001c0002t0001g0163 a0001c0002t0003g0009 a0001c0002t0003g0024 a0001c0002t0003g0158 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0013g0009 a0001c0002t0013g0159 a0001c0002t0016g0024 a0001c0002t0034g0088	23	428	0.0537	c.735 others(3): Show c.735G>A	p.Arg others(6): Show p.Arg245Arg	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/4	1186/3370	735/1110	245/369	chr22	TogoVar
ASPHD2_chr22_26424260_26450015	26442493	G G	T T	synonymous_variant synonymous_variant	LOW	HG00673.hp2 HG02040.hp1 HG00673.hp2 HG02040.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0002 a0001c0005t0001 a0001c0005t0002	a0001c0005t0001g0002 a0001c0005t0002g0006 a0001c0005t0001g0002 a0001c0005t0002g0006	2	428	0.0047	c.921 others(3): Show c.921G>T	p.Val others(6): Show p.Val307Val	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	3/4	1372/3370	921/1110	307/369	chr22	TogoVar
ASPHD2_chr22_26424260_26450015	26443137	T T	C C	synonymous_variant synonymous_variant	LOW	HG02132.hp2 NA18969.hp1 NA19082.hp1 HG02132.hp2 NA18969.hp1 NA19082.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0011 a0001c0004t0001g0123 a0001c0004t0001g0011 a0001c0004t0001g0123	3	428	0.0070	c.104 others(4): Show c.1041T>C	p.Asp others(6): Show p.Asp347Asp	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	4/4	1492/3370	1041/1110	347/369	chr22	TogoVar
ASPH_chr8_61495556_61719592	61503401	C C	T T	synonymous_variant synonymous_variant	LOW	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0042 a0001c0011t0001g0042	1	258	0.0039	c.223 others(4): Show c.2235G>A	p.Pro others(6): Show p.Pro745Pro	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	25/25	2456/5301	2235/2277	745/758	chr8	TogoVar
ASPH_chr8_61495556_61719592	61517629	G G	A A	synonymous_variant synonymous_variant	LOW	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0017 a0001c0012t0017	a0001c0012t0017g0043 a0001c0012t0017g0043	1	258	0.0039	c.202 others(4): Show c.2025C>T	p.His others(6): Show p.His675His	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	24/25	2246/5301	2025/2277	675/758	chr8	TogoVar
ASPH_chr8_61495556_61719592	61553067	G G	A A	synonymous_variant synonymous_variant	LOW	HG02132.hp2 HG04184.hp2 HG02132.hp2 HG04184.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0118 a0001c0005t0001g0157 a0001c0005t0001g0118 a0001c0005t0001g0157	2	258	0.0078	c.159 others(4): Show c.1590C>T	p.His others(6): Show p.His530His	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	20/25	1811/5301	1590/2277	530/758	chr8	TogoVar
ASPH_chr8_61495556_61719592	61567205	C C	T T	synonymous_variant synonymous_variant	LOW	NA18988.hp2 NA19083.hp2 NA18988.hp2 NA19083.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0254 a0001c0004t0003g0255 a0001c0004t0003g0254 a0001c0004t0003g0255	2	258	0.0078	c.126 others(4): Show c.1263G>A	p.Leu others(6): Show p.Leu421Leu	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	17/25	1484/5301	1263/2277	421/758	chr8	TogoVar
ASPH_chr8_61495556_61719592	61576775	C C	T T	synonymous_variant synonymous_variant	LOW	HG00609.hp1 HG00741.hp1 HG01069.hp1 others(40): Show HG00609.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01256.hp2 HG01496.hp2 HG01993.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02717.hp2 HG02965.hp2 HG03139.hp2 HG03225.hp1 HG03490.hp2 HG03491.hp1 HG04204.hp2 NA18946.hp1 NA18950.hp2 NA18966.hp1 NA18970.hp2 NA18977.hp1 NA18988.hp1 NA19001.hp1 NA19002.hp2 NA19004.hp1 NA19010.hp1 NA19043.hp2 NA19054.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19082.hp1 NA19087.hp2 NA19088.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0002 a0005c0007 a0007c0008 a0001c0002 a0005c0007 a0007c0008	a0001c0002t0002 a0001c0002t0003 a0001c0002t0020 others(5): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0020 a0001c0002t0022 a0001c0002t0026 a0001c0002t0032 a0005c0007t0002 a0007c0008t0002	a0001c0002t0002g0001 a0001c0002t0002g0021 a0001c0002t0002g0022 others(39): Show a0001c0002t0002g0001 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0026 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0039 a0001c0002t0002g0046 a0001c0002t0002g0051 a0001c0002t0002g0059 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0091 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0104 a0001c0002t0002g0121 a0001c0002t0002g0136 a0001c0002t0002g0144 a0001c0002t0002g0150 a0001c0002t0002g0155 a0001c0002t0002g0158 a0001c0002t0002g0166 a0001c0002t0002g0174 a0001c0002t0002g0194 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0203 a0001c0002t0003g0212 a0001c0002t0003g0223 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0231 a0001c0002t0020g0011 a0001c0002t0022g0060 a0001c0002t0026g0063 a0001c0002t0032g0216 a0005c0007t0002g0045 a0007c0008t0002g0138	43	258	0.1667	c.114 others(4): Show c.1146G>A	p.Ala others(6): Show p.Ala382Ala	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	16/25	1367/5301	1146/2277	382/758	chr8	TogoVar
ASPH_chr8_61495556_61719592	61638335	C C	A A	synonymous_variant synonymous_variant	LOW	HG02257.hp1 HG03098.hp1 HG02257.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0003 a0001c0006t0014g0004 a0001c0006t0014g0003 a0001c0006t0014g0004	2	258	0.0078	c.819 others(3): Show c.819G>T	p.Gly others(6): Show p.Gly273Gly	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	11/25	1040/5301	819/2277	273/758	chr8	TogoVar
ASPH_chr8_61495556_61719592	61684097	G G	A A	synonymous_variant synonymous_variant	LOW	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0004 a0001c0015t0004	a0001c0015t0004g0248 a0001c0015t0004g0248	1	258	0.0039	c.195 others(3): Show c.195C>T	p.Gly others(5): Show p.Gly65Gly	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	2/25	416/5301	195/2277	65/758	chr8	TogoVar
ASPM_chr1_197079127_197151669	197088421	A A	G G	synonymous_variant synonymous_variant	LOW	HG03453.hp2 NA20300.hp1 HG03453.hp2 NA20300.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0173 a0001c0022t0001g0174 a0001c0022t0001g0173 a0001c0022t0001g0174	2	296	0.0068	c.999 others(4): Show c.9996T>C	p.Thr others(7): Show p.Thr3332Thr	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	26/28	10228/10863	9996/10434	3332/3477	chr1	TogoVar
ASPM_chr1_197079127_197151669	197101085	A A	G G	synonymous_variant synonymous_variant	LOW	HG02523.hp2 NA18612.hp2 NA18945.hp1 others(4): Show HG02523.hp2 NA18612.hp2 NA18945.hp1 NA18969.hp1 NA18972.hp1 NA19006.hp1 NA19072.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0015 a0003c0005t0003g0038 a0003c0005t0003g0039 others(3): Show a0003c0005t0003g0015 a0003c0005t0003g0038 a0003c0005t0003g0039 a0003c0005t0003g0040 a0003c0005t0003g0041 a0003c0005t0003g0042	7	296	0.0237	c.816 others(4): Show c.8166T>C	p.Tyr others(7): Show p.Tyr2722Tyr	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	18/28	8398/10863	8166/10434	2722/3477	chr1	TogoVar
ASPM_chr1_197079127_197151669	197101334	T T	C C	synonymous_variant synonymous_variant	LOW	HG02280.hp2 HG03139.hp2 NA19043.hp1 HG02280.hp2 HG03139.hp2 NA19043.hp1	a0001 a0020 a0001 a0020	a0001c0039 a0020c0019 a0001c0039 a0020c0019	a0001c0039t0001 a0020c0019t0001 a0001c0039t0001 a0020c0019t0001	a0001c0039t0001g0172 a0020c0019t0001g0031 a0001c0039t0001g0172 a0020c0019t0001g0031	3	296	0.0101	c.791 others(4): Show c.7917A>G	p.Lys others(7): Show p.Lys2639Lys	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	18/28	8149/10863	7917/10434	2639/3477	chr1	TogoVar
ASPM_chr1_197079127_197151669	197101577	G G	A A	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00423.hp1 HG00639.hp2 others(61): Show HG00140.hp1 HG00423.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01256.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01934.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02486.hp2 HG02698.hp1 HG02809.hp2 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18940.hp1 NA18944.hp2 NA18952.hp1 NA18955.hp2 NA18964.hp1 NA18966.hp2 NA18969.hp2 NA18978.hp1 NA18980.hp2 NA18987.hp2 NA18988.hp2 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19057.hp1 NA19068.hp2 NA19079.hp1 NA19086.hp1 NA19089.hp2 NA20129.hp1 NA20905.hp2	a0002 a0016 a0024 others(3): Show a0002 a0016 a0024 a0026 a0030 a0036	a0002c0002 a0002c0040 a0016c0023 others(4): Show a0002c0002 a0002c0040 a0016c0023 a0024c0044 a0026c0042 a0030c0041 a0036c0027	a0002c0002t0001 a0002c0002t0007 a0002c0040t0001 others(5): Show a0002c0002t0001 a0002c0002t0007 a0002c0040t0001 a0016c0023t0001 a0024c0044t0001 a0026c0042t0001 a0030c0041t0001 a0036c0027t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0010 others(41): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0007g0157 a0002c0002t0007g0170 a0002c0040t0001g0151 a0016c0023t0001g0030 a0024c0044t0001g0167 a0026c0042t0001g0143 a0030c0041t0001g0142 a0036c0027t0001g0139	64	296	0.2162	c.767 others(4): Show c.7674C>T	p.Ile others(7): Show p.Ile2558Ile	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	18/28	7906/10863	7674/10434	2558/3477	chr1	TogoVar
ASPM_chr1_197079127_197151669	197101646	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00423.hp2 HG00438.hp1 others(76): Show HG00099.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01168.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG02004.hp2 HG02071.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02523.hp1 HG02735.hp1 HG03017.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18940.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp1 NA18987.hp1 NA18988.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19006.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19076.hp2 NA19079.hp2 NA19083.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA20300.hp2	a0001 a0008 a0009 others(6): Show a0001 a0008 a0009 a0017 a0018 a0022 a0023 a0034 a0035	a0001c0001 a0001c0026 a0008c0014 others(7): Show a0001c0001 a0001c0026 a0008c0014 a0009c0015 a0017c0021 a0018c0020 a0022c0047 a0023c0046 a0034c0038 a0035c0048	a0001c0001t0001 a0001c0001t0009 a0001c0026t0001 others(8): Show a0001c0001t0001 a0001c0001t0009 a0001c0026t0001 a0008c0014t0001 a0009c0015t0001 a0017c0021t0001 a0018c0020t0001 a0022c0047t0001 a0023c0046t0001 a0034c0038t0001 a0035c0048t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(51): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0216 a0001c0001t0009g0217 a0001c0026t0001g0043 a0008c0014t0001g0025 a0008c0014t0001g0116 a0009c0015t0001g0095 a0009c0015t0001g0102 a0009c0015t0001g0123 a0017c0021t0001g0027 a0018c0020t0001g0103 a0018c0020t0001g0104 a0022c0047t0001g0134 a0023c0046t0001g0131 a0034c0038t0001g0122 a0035c0048t0001g0135	79	296	0.2669	c.760 others(4): Show c.7605G>A	p.Val others(7): Show p.Val2535Val	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	18/28	7837/10863	7605/10434	2535/3477	chr1	TogoVar
ASPM_chr1_197079127_197151669	197101685	T T	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(240): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(26): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0011 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0026 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036	a0001c0001 a0001c0003 a0001c0008 others(37): Show a0001c0001 a0001c0003 a0001c0008 a0001c0022 a0001c0026 a0001c0028 a0001c0031 a0001c0033 a0001c0034 a0001c0039 a0001c0045 a0002c0002 a0002c0040 a0003c0005 a0005c0006 a0006c0013 a0008c0014 a0009c0015 a0011c0016 a0013c0025 a0014c0024 a0015c0018 a0016c0023 a0017c0021 a0018c0020 a0019c0017 a0020c0019 a0021c0049 a0022c0047 a0023c0046 a0024c0044 a0026c0042 a0029c0036 a0030c0041 a0031c0035 a0032c0037 a0033c0043 a0034c0038 a0035c0048 a0036c0027	a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 others(40): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 a0001c0003t0008 a0001c0008t0001 a0001c0022t0001 a0001c0026t0001 a0001c0028t0001 a0001c0031t0002 a0001c0033t0002 a0001c0034t0001 a0001c0039t0001 a0001c0045t0001 a0002c0002t0001 a0002c0002t0007 a0002c0040t0001 a0003c0005t0003 a0005c0006t0005 a0006c0013t0004 a0008c0014t0001 a0009c0015t0001 a0011c0016t0001 a0013c0025t0004 a0014c0024t0004 a0015c0018t0001 a0016c0023t0001 a0017c0021t0001 a0018c0020t0001 a0019c0017t0001 a0020c0019t0001 a0021c0049t0001 a0022c0047t0001 a0023c0046t0001 a0024c0044t0001 a0026c0042t0001 a0029c0036t0001 a0030c0041t0001 a0031c0035t0001 a0032c0037t0001 a0033c0043t0001 a0034c0038t0001 a0035c0048t0001 a0036c0027t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(169): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0216 a0001c0001t0009g0217 a0001c0003t0001g0002 a0001c0003t0001g0005 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0195 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0215 a0001c0003t0008g0194 a0001c0008t0001g0096 a0001c0008t0001g0098 a0001c0008t0001g0099 a0001c0008t0001g0130 a0001c0022t0001g0173 a0001c0022t0001g0174 a0001c0026t0001g0043 a0001c0028t0001g0050 a0001c0031t0002g0087 a0001c0033t0002g0073 a0001c0034t0001g0180 a0001c0039t0001g0172 a0001c0045t0001g0208 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0007g0157 a0002c0002t0007g0170 a0002c0040t0001g0151 a0003c0005t0003g0015 a0003c0005t0003g0038 a0003c0005t0003g0039 a0003c0005t0003g0040 a0003c0005t0003g0041 a0003c0005t0003g0042 a0005c0006t0005g0035 a0005c0006t0005g0218 a0005c0006t0005g0219 a0006c0013t0004g0045 a0006c0013t0004g0046 a0006c0013t0004g0047 a0008c0014t0001g0025 a0008c0014t0001g0116 a0009c0015t0001g0095 a0009c0015t0001g0102 a0009c0015t0001g0123 a0011c0016t0001g0009 a0013c0025t0004g0022 a0014c0024t0004g0090 a0014c0024t0004g0091 a0015c0018t0001g0032 a0016c0023t0001g0030 a0017c0021t0001g0027 a0018c0020t0001g0103 a0018c0020t0001g0104 a0019c0017t0001g0189 a0019c0017t0001g0190 a0020c0019t0001g0031 a0021c0049t0001g0214 a0022c0047t0001g0134 a0023c0046t0001g0131 a0024c0044t0001g0167 a0026c0042t0001g0143 a0029c0036t0001g0196 a0030c0041t0001g0142 a0031c0035t0001g0209 a0032c0037t0001g0197 a0033c0043t0001g0097 a0034c0038t0001g0122 a0035c0048t0001g0135 a0036c0027t0001g0139	243	296	0.8210	c.756 others(4): Show c.7566A>G	p.Leu others(7): Show p.Leu2522Leu	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	18/28	7798/10863	7566/10434	2522/3477	chr1	TogoVar
ASPM_chr1_197079127_197151669	197101898	C C	T T	synonymous_variant synonymous_variant	LOW	HG02280.hp2 HG03139.hp2 NA19043.hp1 HG02280.hp2 HG03139.hp2 NA19043.hp1	a0001 a0020 a0001 a0020	a0001c0039 a0020c0019 a0001c0039 a0020c0019	a0001c0039t0001 a0020c0019t0001 a0001c0039t0001 a0020c0019t0001	a0001c0039t0001g0172 a0020c0019t0001g0031 a0001c0039t0001g0172 a0020c0019t0001g0031	3	296	0.0101	c.735 others(4): Show c.7353G>A	p.Leu others(7): Show p.Leu2451Leu	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	18/28	7585/10863	7353/10434	2451/3477	chr1	TogoVar
ASPM_chr1_197079127_197151669	197102072	A A	T T	synonymous_variant synonymous_variant	LOW	NA18987.hp2 NA18987.hp2	a0002 a0002	a0002c0040 a0002c0040	a0002c0040t0001 a0002c0040t0001	a0002c0040t0001g0151 a0002c0040t0001g0151	1	296	0.0034	c.717 others(4): Show c.7179T>A	p.Ala others(7): Show p.Ala2393Ala	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	18/28	7411/10863	7179/10434	2393/3477	chr1	TogoVar

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