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
ALK_chr2_29187774_29926586	29193615	T T	C C	missense_variant missense_variant	MODERATE	HG00323.hp1 HG01074.hp1 HG01106.hp2 others(24): Show HG00323.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG02004.hp2 HG02071.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp1 NA18906.hp1 NA18969.hp2 NA19043.hp2 NA20300.hp1	a0003 a0004 a0008 a0003 a0004 a0008	a0003c0003 a0003c0005 a0003c0010 others(15): Show a0003c0003 a0003c0005 a0003c0010 a0003c0012 a0003c0015 a0003c0019 a0003c0024 a0003c0026 a0003c0031 a0003c0034 a0003c0041 a0003c0043 a0003c0054 a0004c0002 a0004c0032 a0004c0042 a0004c0045 a0008c0057	a0003c0003t0002 a0003c0005t0002 a0003c0010t0006 others(15): Show a0003c0003t0002 a0003c0005t0002 a0003c0010t0006 a0003c0012t0002 a0003c0015t0002 a0003c0019t0002 a0003c0024t0009 a0003c0026t0002 a0003c0031t0002 a0003c0034t0002 a0003c0041t0002 a0003c0043t0002 a0003c0054t0002 a0004c0002t0003 a0004c0032t0003 a0004c0042t0003 a0004c0045t0002 a0008c0057t0002	a0003c0003t0002g0038 a0003c0003t0002g0059 a0003c0003t0002g0065 others(24): Show a0003c0003t0002g0038 a0003c0003t0002g0059 a0003c0003t0002g0065 a0003c0005t0002g0032 a0003c0005t0002g0045 a0003c0005t0002g0048 a0003c0010t0006g0001 a0003c0010t0006g0002 a0003c0012t0002g0034 a0003c0012t0002g0067 a0003c0015t0002g0010 a0003c0019t0002g0011 a0003c0024t0009g0075 a0003c0026t0002g0015 a0003c0031t0002g0030 a0003c0034t0002g0071 a0003c0041t0002g0046 a0003c0043t0002g0039 a0003c0054t0002g0069 a0004c0002t0003g0025 a0004c0002t0003g0041 a0004c0002t0003g0057 a0004c0002t0003g0058 a0004c0032t0003g0052 a0004c0042t0003g0073 a0004c0045t0002g0043 a0008c0057t0002g0023	27	80	0.3375	c.447 others(4): Show c.4472A>G	p.Lys others(7): Show p.Lys1491Arg	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	29/29	5399/6240	4472/4863	1491/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29193706	T T	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(73): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp1 NA18906.hp2 NA18969.hp1 NA18969.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0004 a0001c0006 a0001c0009 others(52): Show a0001c0004 a0001c0006 a0001c0009 a0001c0016 a0001c0017 a0001c0020 a0001c0022 a0001c0023 a0001c0025 a0001c0027 a0001c0033 a0001c0035 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0048 a0001c0050 a0001c0051 a0001c0053 a0001c0058 a0002c0001 a0002c0007 a0002c0008 a0002c0011 a0002c0014 a0002c0018 a0002c0028 a0002c0030 a0002c0036 a0002c0047 a0002c0049 a0002c0052 a0002c0055 a0002c0056 a0003c0003 a0003c0005 a0003c0010 a0003c0012 a0003c0015 a0003c0019 a0003c0024 a0003c0026 a0003c0031 a0003c0034 a0003c0041 a0003c0043 a0003c0054 a0004c0002 a0004c0032 a0004c0042 a0004c0045 a0006c0029 a0007c0044 a0008c0057	a0001c0004t0001 a0001c0004t0008 a0001c0006t0001 others(54): Show a0001c0004t0001 a0001c0004t0008 a0001c0006t0001 a0001c0006t0007 a0001c0009t0005 a0001c0016t0007 a0001c0017t0001 a0001c0020t0005 a0001c0022t0001 a0001c0023t0010 a0001c0025t0011 a0001c0027t0001 a0001c0033t0001 a0001c0035t0001 a0001c0037t0005 a0001c0038t0001 a0001c0039t0013 a0001c0040t0001 a0001c0048t0001 a0001c0050t0014 a0001c0051t0001 a0001c0053t0001 a0001c0058t0001 a0002c0001t0001 a0002c0007t0001 a0002c0008t0001 a0002c0011t0001 a0002c0014t0001 a0002c0018t0001 a0002c0028t0001 a0002c0030t0001 a0002c0036t0015 a0002c0047t0001 a0002c0049t0001 a0002c0052t0001 a0002c0055t0001 a0002c0056t0001 a0003c0003t0002 a0003c0005t0002 a0003c0010t0006 a0003c0012t0002 a0003c0015t0002 a0003c0019t0002 a0003c0024t0009 a0003c0026t0002 a0003c0031t0002 a0003c0034t0002 a0003c0041t0002 a0003c0043t0002 a0003c0054t0002 a0004c0002t0003 a0004c0032t0003 a0004c0042t0003 a0004c0045t0002 a0006c0029t0001 a0007c0044t0012 a0008c0057t0002	a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0004t0008g0003 others(73): Show a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0004t0008g0003 a0001c0006t0001g0026 a0001c0006t0001g0036 a0001c0006t0007g0056 a0001c0009t0005g0018 a0001c0009t0005g0054 a0001c0016t0007g0004 a0001c0017t0001g0012 a0001c0020t0005g0005 a0001c0022t0001g0007 a0001c0023t0010g0076 a0001c0025t0011g0074 a0001c0027t0001g0013 a0001c0033t0001g0029 a0001c0035t0001g0068 a0001c0037t0005g0028 a0001c0038t0001g0035 a0001c0039t0013g0079 a0001c0040t0001g0022 a0001c0048t0001g0047 a0001c0050t0014g0078 a0001c0051t0001g0019 a0001c0053t0001g0070 a0001c0058t0001g0024 a0002c0001t0001g0027 a0002c0001t0001g0033 a0002c0001t0001g0061 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0007t0001g0064 a0002c0007t0001g0066 a0002c0008t0001g0044 a0002c0008t0001g0049 a0002c0011t0001g0042 a0002c0011t0001g0051 a0002c0014t0001g0009 a0002c0018t0001g0008 a0002c0028t0001g0014 a0002c0030t0001g0060 a0002c0036t0015g0080 a0002c0047t0001g0055 a0002c0049t0001g0072 a0002c0052t0001g0017 a0002c0055t0001g0031 a0002c0056t0001g0040 a0003c0003t0002g0038 a0003c0003t0002g0059 a0003c0003t0002g0065 a0003c0005t0002g0032 a0003c0005t0002g0045 a0003c0005t0002g0048 a0003c0010t0006g0001 a0003c0010t0006g0002 a0003c0012t0002g0034 a0003c0012t0002g0067 a0003c0015t0002g0010 a0003c0019t0002g0011 a0003c0024t0009g0075 a0003c0026t0002g0015 a0003c0031t0002g0030 a0003c0034t0002g0071 a0003c0041t0002g0046 a0003c0043t0002g0039 a0003c0054t0002g0069 a0004c0002t0003g0025 a0004c0002t0003g0041 a0004c0002t0003g0057 a0004c0002t0003g0058 a0004c0032t0003g0052 a0004c0042t0003g0073 a0004c0045t0002g0043 a0006c0029t0001g0016 a0007c0044t0012g0077 a0008c0057t0002g0023	76	80	0.9500	c.438 others(4): Show c.4381A>G	p.Ile others(7): Show p.Ile1461Val	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	29/29	5308/6240	4381/4863	1461/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29193712	C C	A A	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02572.hp1	a0008 a0008	a0008c0057 a0008c0057	a0008c0057t0002 a0008c0057t0002	a0008c0057t0002g0023 a0008c0057t0002g0023	1	80	0.0125	c.437 others(4): Show c.4375G>T	p.Ala others(7): Show p.Ala1459Ser	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	29/29	5302/6240	4375/4863	1459/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29223519	C C	T T	missense_variant missense_variant	MODERATE	NA19240.hp1 NA19240.hp1	a0007 a0007	a0007c0044 a0007c0044	a0007c0044t0012 a0007c0044t0012	a0007c0044t0012g0077 a0007c0044t0012g0077	1	80	0.0125	c.318 others(4): Show c.3182G>A	p.Arg others(7): Show p.Arg1061Gln	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	20/29	4109/6240	3182/4863	1061/1620	chr2	TogoVar
ALK_chr2_29187774_29926586	29275101	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01433.hp2 HG01433.hp2	a0006 a0006	a0006c0029 a0006c0029	a0006c0029t0001 a0006c0029t0001	a0006c0029t0001g0016 a0006c0029t0001g0016	1	80	0.0125	c.203 others(4): Show c.2039C>T	p.Thr others(6): Show p.Thr680Ile	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	11/29	2966/6240	2039/4863	680/1620	chr2	TogoVar
ALLC_chr2_3653200_3707671	3678516	T T	C C	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02486.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0140 a0008c0011t0001g0140	1	274	0.0037	c.133 others(3): Show c.133T>C	p.Trp others(5): Show p.Trp45Arg	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	4/12	290/1441	133/1176	45/391	chr2	TogoVar
ALLC_chr2_3653200_3707671	3681664	C C	T T	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00408.hp1 HG00423.hp2 others(78): Show HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18952.hp2 NA18961.hp2 NA18969.hp1 NA18971.hp2 NA18995.hp1 NA19007.hp2 NA19054.hp1 NA19063.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0003 a0004 a0005 others(1): Show a0003 a0004 a0005 a0007	a0003c0003 a0003c0010 a0004c0004 others(2): Show a0003c0003 a0003c0010 a0004c0004 a0005c0007 a0007c0008	a0003c0003t0001 a0003c0003t0002 a0003c0010t0004 others(6): Show a0003c0003t0001 a0003c0003t0002 a0003c0010t0004 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0005c0007t0004 a0007c0008t0002 a0007c0008t0003	a0003c0003t0001g0009 a0003c0003t0001g0026 a0003c0003t0001g0046 others(76): Show a0003c0003t0001g0009 a0003c0003t0001g0026 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0060 a0003c0003t0001g0108 a0003c0003t0001g0111 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0002g0010 a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0020 a0003c0003t0002g0021 a0003c0003t0002g0027 a0003c0003t0002g0029 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0042 a0003c0003t0002g0138 a0003c0003t0002g0139 a0003c0003t0002g0152 a0003c0003t0002g0156 a0003c0003t0002g0157 a0003c0003t0002g0167 a0003c0003t0002g0171 a0003c0003t0002g0176 a0003c0003t0002g0177 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0002g0183 a0003c0003t0002g0187 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0190 a0003c0003t0002g0191 a0003c0003t0002g0193 a0003c0003t0002g0194 a0003c0003t0002g0195 a0003c0003t0002g0196 a0003c0003t0002g0202 a0003c0003t0002g0203 a0003c0003t0002g0204 a0003c0003t0002g0205 a0003c0003t0002g0209 a0003c0003t0002g0221 a0003c0003t0002g0239 a0003c0003t0002g0249 a0003c0010t0004g0256 a0004c0004t0001g0023 a0004c0004t0001g0024 a0004c0004t0001g0025 a0004c0004t0001g0037 a0004c0004t0001g0079 a0004c0004t0001g0153 a0004c0004t0001g0226 a0004c0004t0002g0125 a0004c0004t0002g0184 a0004c0004t0002g0185 a0004c0004t0002g0192 a0004c0004t0002g0197 a0004c0004t0002g0198 a0004c0004t0002g0206 a0004c0004t0003g0251 a0004c0004t0003g0252 a0005c0007t0004g0253 a0005c0007t0004g0254 a0005c0007t0004g0257 a0007c0008t0002g0207 a0007c0008t0003g0259	81	274	0.2956	c.329 others(3): Show c.329C>T	p.Thr others(6): Show p.Thr110Ile	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	6/12	486/1441	329/1176	110/391	chr2	TogoVar
ALLC_chr2_3653200_3707671	3681713	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19082.hp2 NA19082.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0002 a0009c0016t0002	a0009c0016t0002g0180 a0009c0016t0002g0180	1	274	0.0037	c.378 others(3): Show c.378G>T	p.Glu others(6): Show p.Glu126Asp	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	6/12	535/1441	378/1176	126/391	chr2	TogoVar
ALLC_chr2_3653200_3707671	3697400	G G	A A	missense_variant missense_variant	MODERATE	HG01123.hp2 HG02559.hp2 HG02723.hp2 HG01123.hp2 HG02559.hp2 HG02723.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0004 a0005c0007t0004	a0005c0007t0004g0253 a0005c0007t0004g0254 a0005c0007t0004g0257 a0005c0007t0004g0253 a0005c0007t0004g0254 a0005c0007t0004g0257	3	274	0.0110	c.794 others(3): Show c.794G>A	p.Arg others(6): Show p.Arg265Gln	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	10/12	951/1441	794/1176	265/391	chr2	TogoVar
ALLC_chr2_3653200_3707671	3701529	T T	C C	missense_variant missense_variant	MODERATE	HG01123.hp2 HG02559.hp2 HG02717.hp1 others(2): Show HG01123.hp2 HG02559.hp2 HG02717.hp1 HG02723.hp2 NA18906.hp1	a0005 a0007 a0005 a0007	a0005c0007 a0007c0008 a0005c0007 a0007c0008	a0005c0007t0004 a0007c0008t0002 a0007c0008t0003 a0005c0007t0004 a0007c0008t0002 a0007c0008t0003	a0005c0007t0004g0253 a0005c0007t0004g0254 a0005c0007t0004g0257 others(2): Show a0005c0007t0004g0253 a0005c0007t0004g0254 a0005c0007t0004g0257 a0007c0008t0002g0207 a0007c0008t0003g0259	5	274	0.0183	c.868 others(3): Show c.868T>C	p.Cys others(6): Show p.Cys290Arg	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	11/12	1025/1441	868/1176	290/391	chr2	TogoVar
ALLC_chr2_3653200_3707671	3702447	C C	G G	missense_variant missense_variant	MODERATE	HG03041.hp1 HG03041.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0002 a0010c0014t0002	a0010c0014t0002g0246 a0010c0014t0002g0246	1	274	0.0037	c.106 others(4): Show c.1060C>G	p.Pro others(6): Show p.Pro354Ala	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	12/12	1217/1441	1060/1176	354/391	chr2	TogoVar
ALLC_chr2_3653200_3707671	3702471	C C	T T	missense_variant missense_variant	MODERATE	HG02922.hp2 HG03453.hp2 HG03471.hp2 HG02922.hp2 HG03453.hp2 HG03471.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0002 a0006c0006t0001 a0006c0006t0002	a0006c0006t0001g0033 a0006c0006t0001g0159 a0006c0006t0002g0151 a0006c0006t0001g0033 a0006c0006t0001g0159 a0006c0006t0002g0151	3	274	0.0110	c.108 others(4): Show c.1084C>T	p.Arg others(6): Show p.Arg362Trp	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	12/12	1241/1441	1084/1176	362/391	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73408726	G G	T T	missense_variant missense_variant	MODERATE	HG02818.hp2 HG02818.hp2	a0026 a0026	a0026c0057 a0026c0057	a0026c0057t0001 a0026c0057t0001	a0026c0057t0001g0105 a0026c0057t0001g0105	1	248	0.0040	c.429 others(3): Show c.429G>T	p.Gln others(6): Show p.Gln143His	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	2/23	462/12844	429/12507	143/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73422881	C C	A A	missense_variant missense_variant	MODERATE	HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show HG00735.hp1 HG02451.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp2	a0008 a0027 a0028 a0008 a0027 a0028	a0008c0008 a0027c0032 a0028c0033 a0008c0008 a0027c0032 a0028c0033	a0008c0008t0001 a0027c0032t0001 a0028c0033t0001 a0008c0008t0001 a0027c0032t0001 a0028c0033t0001	a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 others(5): Show a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 a0008c0008t0001g0234 a0008c0008t0001g0235 a0008c0008t0001g0237 a0027c0032t0001g0236 a0028c0033t0001g0238	8	248	0.0323	c.671 others(3): Show c.671C>A	p.Pro others(6): Show p.Pro224His	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	4/23	704/12844	671/12507	224/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73424809	A A	G G	missense_variant missense_variant	MODERATE	HG02647.hp2 HG02818.hp1 HG03098.hp1 others(3): Show HG02647.hp2 HG02818.hp1 HG03098.hp1 HG03486.hp1 HG03579.hp1 NA19043.hp2	a0009 a0009	a0009c0013 a0009c0026 a0009c0013 a0009c0026	a0009c0013t0001 a0009c0026t0001 a0009c0013t0001 a0009c0026t0001	a0009c0013t0001g0240 a0009c0013t0001g0242 a0009c0013t0001g0244 others(3): Show a0009c0013t0001g0240 a0009c0013t0001g0242 a0009c0013t0001g0244 a0009c0013t0001g0245 a0009c0026t0001g0241 a0009c0026t0001g0243	6	248	0.0242	c.114 others(4): Show c.1144A>G	p.Thr others(6): Show p.Thr382Ala	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	5/23	1177/12844	1144/12507	382/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73424839	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18952.hp1 NA18966.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19079.hp1 NA19081.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0002 a0004 a0005 others(30): Show a0002 a0004 a0005 a0006 a0008 a0009 a0011 a0012 a0014 a0017 a0018 a0019 a0020 a0021 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0043 a0044 a0045 a0046	a0002c0004 a0002c0011 a0002c0020 others(46): Show a0002c0004 a0002c0011 a0002c0020 a0002c0023 a0002c0040 a0002c0041 a0002c0047 a0002c0052 a0002c0054 a0004c0003 a0004c0043 a0004c0053 a0005c0005 a0005c0058 a0006c0007 a0006c0010 a0008c0008 a0009c0013 a0009c0026 a0011c0022 a0011c0024 a0011c0048 a0012c0012 a0014c0021 a0014c0039 a0017c0017 a0018c0025 a0019c0018 a0020c0019 a0021c0029 a0024c0030 a0025c0031 a0026c0057 a0027c0032 a0028c0033 a0029c0056 a0030c0038 a0031c0042 a0032c0046 a0033c0055 a0034c0049 a0035c0050 a0036c0045 a0037c0044 a0038c0051 a0043c0062 a0044c0064 a0045c0063 a0046c0065	a0002c0004t0001 a0002c0011t0001 a0002c0020t0001 others(46): Show a0002c0004t0001 a0002c0011t0001 a0002c0020t0001 a0002c0023t0001 a0002c0040t0001 a0002c0041t0001 a0002c0047t0001 a0002c0052t0001 a0002c0054t0001 a0004c0003t0002 a0004c0043t0002 a0004c0053t0002 a0005c0005t0001 a0005c0058t0001 a0006c0007t0001 a0006c0010t0001 a0008c0008t0001 a0009c0013t0001 a0009c0026t0001 a0011c0022t0001 a0011c0024t0001 a0011c0048t0001 a0012c0012t0001 a0014c0021t0001 a0014c0039t0001 a0017c0017t0003 a0018c0025t0001 a0019c0018t0001 a0020c0019t0002 a0021c0029t0001 a0024c0030t0001 a0025c0031t0001 a0026c0057t0001 a0027c0032t0001 a0028c0033t0001 a0029c0056t0002 a0030c0038t0001 a0031c0042t0002 a0032c0046t0001 a0033c0055t0001 a0034c0049t0001 a0035c0050t0001 a0036c0045t0002 a0037c0044t0002 a0038c0051t0001 a0043c0062t0001 a0044c0064t0001 a0045c0063t0001 a0046c0065t0001	a0002c0004t0001g0005 a0002c0004t0001g0031 a0002c0004t0001g0033 others(125): Show a0002c0004t0001g0005 a0002c0004t0001g0031 a0002c0004t0001g0033 a0002c0004t0001g0034 a0002c0004t0001g0035 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0046 a0002c0004t0001g0048 a0002c0004t0001g0051 a0002c0004t0001g0052 a0002c0004t0001g0239 a0002c0004t0001g0247 a0002c0011t0001g0004 a0002c0011t0001g0006 a0002c0011t0001g0041 a0002c0011t0001g0042 a0002c0020t0001g0207 a0002c0020t0001g0208 a0002c0023t0001g0195 a0002c0023t0001g0196 a0002c0040t0001g0206 a0002c0041t0001g0094 a0002c0047t0001g0047 a0002c0052t0001g0040 a0002c0054t0001g0193 a0004c0003t0002g0064 a0004c0003t0002g0065 a0004c0003t0002g0066 a0004c0003t0002g0067 a0004c0003t0002g0068 a0004c0003t0002g0069 a0004c0003t0002g0070 a0004c0003t0002g0071 a0004c0003t0002g0072 a0004c0003t0002g0073 a0004c0003t0002g0074 a0004c0003t0002g0076 a0004c0003t0002g0077 a0004c0003t0002g0078 a0004c0003t0002g0080 a0004c0003t0002g0081 a0004c0003t0002g0083 a0004c0003t0002g0084 a0004c0003t0002g0085 a0004c0003t0002g0086 a0004c0003t0002g0088 a0004c0003t0002g0091 a0004c0043t0002g0082 a0004c0053t0002g0050 a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 a0005c0005t0001g0109 a0005c0005t0001g0111 a0005c0005t0001g0112 a0005c0005t0001g0113 a0005c0005t0001g0114 a0005c0005t0001g0115 a0005c0005t0001g0116 a0005c0005t0001g0117 a0005c0005t0001g0118 a0005c0058t0001g0110 a0006c0007t0001g0098 a0006c0007t0001g0099 a0006c0007t0001g0100 a0006c0007t0001g0101 a0006c0007t0001g0102 a0006c0007t0001g0228 a0006c0007t0001g0229 a0006c0010t0001g0096 a0006c0010t0001g0097 a0006c0010t0001g0103 a0006c0010t0001g0104 a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 a0008c0008t0001g0234 a0008c0008t0001g0235 a0008c0008t0001g0237 a0009c0013t0001g0240 a0009c0013t0001g0242 a0009c0013t0001g0244 a0009c0013t0001g0245 a0009c0026t0001g0241 a0009c0026t0001g0243 a0011c0022t0001g0199 a0011c0022t0001g0200 a0011c0024t0001g0194 a0011c0024t0001g0198 a0011c0048t0001g0197 a0012c0012t0001g0202 a0012c0012t0001g0203 a0012c0012t0001g0204 a0012c0012t0001g0209 a0014c0021t0001g0043 a0014c0021t0001g0044 a0014c0039t0001g0045 a0017c0017t0003g0224 a0017c0017t0003g0225 a0018c0025t0001g0053 a0018c0025t0001g0054 a0019c0018t0001g0056 a0019c0018t0001g0057 a0020c0019t0002g0075 a0020c0019t0002g0090 a0021c0029t0001g0119 a0021c0029t0001g0121 a0024c0030t0001g0227 a0025c0031t0001g0226 a0026c0057t0001g0105 a0027c0032t0001g0236 a0028c0033t0001g0238 a0029c0056t0002g0087 a0030c0038t0001g0055 a0031c0042t0002g0089 a0032c0046t0001g0230 a0033c0055t0001g0201 a0034c0049t0001g0039 a0035c0050t0001g0246 a0036c0045t0002g0062 a0037c0044t0002g0079 a0038c0051t0001g0210 a0043c0062t0001g0120 a0044c0064t0001g0049 a0045c0063t0001g0191 a0046c0065t0001g0205	128	248	0.5161	c.117 others(4): Show c.1174C>T	p.Arg others(6): Show p.Arg392Cys	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	5/23	1207/12844	1174/12507	392/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73447980	A A	G G	missense_variant missense_variant	MODERATE	HG01106.hp1 HG01106.hp1	a0056 a0056	a0056c0073 a0056c0073	a0056c0073t0001 a0056c0073t0001	a0056c0073t0001g0123 a0056c0073t0001g0123	1	248	0.0040	c.145 others(4): Show c.1453A>G	p.Ile others(6): Show p.Ile485Val	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	1486/12844	1453/12507	485/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73448043	A A	T T	missense_variant missense_variant	MODERATE	HG02717.hp1 HG03041.hp1 HG02717.hp1 HG03041.hp1	a0018 a0018	a0018c0025 a0018c0025	a0018c0025t0001 a0018c0025t0001	a0018c0025t0001g0053 a0018c0025t0001g0054 a0018c0025t0001g0053 a0018c0025t0001g0054	2	248	0.0081	c.151 others(4): Show c.1516A>T	p.Ile others(6): Show p.Ile506Phe	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	1549/12844	1516/12507	506/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73448304	C C	T T	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0046 a0046	a0046c0065 a0046c0065	a0046c0065t0001 a0046c0065t0001	a0046c0065t0001g0205 a0046c0065t0001g0205	1	248	0.0040	c.177 others(4): Show c.1777C>T	p.His others(6): Show p.His593Tyr	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	1810/12844	1777/12507	593/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73448542	T T	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(206): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18977.hp1 NA18983.hp2 NA18985.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(47): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0042 a0043 a0044 a0045 a0046 a0048 a0050 a0051 a0052 a0053 a0054 a0055 a0056 a0058 a0059	a0001c0001 a0001c0066 a0002c0004 others(64): Show a0001c0001 a0001c0066 a0002c0004 a0002c0011 a0002c0020 a0002c0023 a0002c0040 a0002c0041 a0002c0047 a0002c0052 a0002c0054 a0004c0003 a0004c0043 a0004c0053 a0005c0005 a0005c0058 a0006c0007 a0006c0010 a0007c0006 a0008c0008 a0009c0013 a0009c0026 a0011c0022 a0011c0024 a0011c0048 a0012c0012 a0013c0014 a0014c0021 a0014c0039 a0015c0015 a0016c0016 a0017c0017 a0018c0025 a0019c0018 a0020c0019 a0021c0029 a0023c0027 a0024c0030 a0025c0031 a0026c0057 a0027c0032 a0028c0033 a0029c0056 a0030c0038 a0031c0042 a0032c0046 a0033c0055 a0034c0049 a0035c0050 a0036c0045 a0037c0044 a0038c0051 a0042c0034 a0043c0062 a0044c0064 a0045c0063 a0046c0065 a0048c0059 a0050c0067 a0051c0068 a0052c0071 a0053c0070 a0054c0069 a0055c0072 a0056c0073 a0058c0074 a0059c0076	a0001c0001t0001 a0001c0001t0004 a0001c0066t0001 others(66): Show a0001c0001t0001 a0001c0001t0004 a0001c0066t0001 a0002c0004t0001 a0002c0011t0001 a0002c0020t0001 a0002c0023t0001 a0002c0040t0001 a0002c0041t0001 a0002c0047t0001 a0002c0052t0001 a0002c0054t0001 a0004c0003t0002 a0004c0043t0002 a0004c0053t0002 a0005c0005t0001 a0005c0058t0001 a0006c0007t0001 a0006c0010t0001 a0007c0006t0001 a0008c0008t0001 a0009c0013t0001 a0009c0026t0001 a0011c0022t0001 a0011c0024t0001 a0011c0048t0001 a0012c0012t0001 a0013c0014t0001 a0014c0021t0001 a0014c0039t0001 a0015c0015t0001 a0016c0016t0001 a0016c0016t0005 a0017c0017t0003 a0018c0025t0001 a0019c0018t0001 a0020c0019t0002 a0021c0029t0001 a0023c0027t0001 a0024c0030t0001 a0025c0031t0001 a0026c0057t0001 a0027c0032t0001 a0028c0033t0001 a0029c0056t0002 a0030c0038t0001 a0031c0042t0002 a0032c0046t0001 a0033c0055t0001 a0034c0049t0001 a0035c0050t0001 a0036c0045t0002 a0037c0044t0002 a0038c0051t0001 a0042c0034t0001 a0043c0062t0001 a0044c0064t0001 a0045c0063t0001 a0046c0065t0001 a0048c0059t0001 a0050c0067t0001 a0051c0068t0001 a0052c0071t0001 a0053c0070t0001 a0054c0069t0001 a0055c0072t0001 a0056c0073t0001 a0058c0074t0001 a0059c0076t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0095 others(206): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0095 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0248 a0001c0001t0004g0133 a0001c0066t0001g0135 a0002c0004t0001g0005 a0002c0004t0001g0031 a0002c0004t0001g0033 a0002c0004t0001g0034 a0002c0004t0001g0035 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0046 a0002c0004t0001g0048 a0002c0004t0001g0051 a0002c0004t0001g0052 a0002c0004t0001g0239 a0002c0004t0001g0247 a0002c0011t0001g0004 a0002c0011t0001g0006 a0002c0011t0001g0041 a0002c0011t0001g0042 a0002c0020t0001g0207 a0002c0020t0001g0208 a0002c0023t0001g0195 a0002c0023t0001g0196 a0002c0040t0001g0206 a0002c0041t0001g0094 a0002c0047t0001g0047 a0002c0052t0001g0040 a0002c0054t0001g0193 a0004c0003t0002g0064 a0004c0003t0002g0065 a0004c0003t0002g0066 a0004c0003t0002g0067 a0004c0003t0002g0068 a0004c0003t0002g0069 a0004c0003t0002g0070 a0004c0003t0002g0071 a0004c0003t0002g0072 a0004c0003t0002g0073 a0004c0003t0002g0074 a0004c0003t0002g0076 a0004c0003t0002g0077 a0004c0003t0002g0078 a0004c0003t0002g0080 a0004c0003t0002g0081 a0004c0003t0002g0083 a0004c0003t0002g0084 a0004c0003t0002g0085 a0004c0003t0002g0086 a0004c0003t0002g0088 a0004c0003t0002g0091 a0004c0043t0002g0082 a0004c0053t0002g0050 a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 a0005c0005t0001g0109 a0005c0005t0001g0111 a0005c0005t0001g0112 a0005c0005t0001g0113 a0005c0005t0001g0114 a0005c0005t0001g0115 a0005c0005t0001g0116 a0005c0005t0001g0117 a0005c0005t0001g0118 a0005c0058t0001g0110 a0006c0007t0001g0098 a0006c0007t0001g0099 a0006c0007t0001g0100 a0006c0007t0001g0101 a0006c0007t0001g0102 a0006c0007t0001g0228 a0006c0007t0001g0229 a0006c0010t0001g0096 a0006c0010t0001g0097 a0006c0010t0001g0103 a0006c0010t0001g0104 a0007c0006t0001g0122 a0007c0006t0001g0127 a0007c0006t0001g0131 a0007c0006t0001g0142 a0007c0006t0001g0148 a0007c0006t0001g0152 a0007c0006t0001g0158 a0007c0006t0001g0163 a0007c0006t0001g0166 a0007c0006t0001g0173 a0007c0006t0001g0211 a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 a0008c0008t0001g0234 a0008c0008t0001g0235 a0008c0008t0001g0237 a0009c0013t0001g0240 a0009c0013t0001g0242 a0009c0013t0001g0244 a0009c0013t0001g0245 a0009c0026t0001g0241 a0009c0026t0001g0243 a0011c0022t0001g0199 a0011c0022t0001g0200 a0011c0024t0001g0194 a0011c0024t0001g0198 a0011c0048t0001g0197 a0012c0012t0001g0202 a0012c0012t0001g0203 a0012c0012t0001g0204 a0012c0012t0001g0209 a0013c0014t0001g0129 a0013c0014t0001g0164 a0013c0014t0001g0172 a0013c0014t0001g0180 a0014c0021t0001g0043 a0014c0021t0001g0044 a0014c0039t0001g0045 a0015c0015t0001g0181 a0015c0015t0001g0190 a0015c0015t0001g0214 a0016c0016t0001g0220 a0016c0016t0001g0221 a0016c0016t0005g0222 a0017c0017t0003g0224 a0017c0017t0003g0225 a0018c0025t0001g0053 a0018c0025t0001g0054 a0019c0018t0001g0056 a0019c0018t0001g0057 a0020c0019t0002g0075 a0020c0019t0002g0090 a0021c0029t0001g0119 a0021c0029t0001g0121 a0023c0027t0001g0007 a0023c0027t0001g0161 a0024c0030t0001g0227 a0025c0031t0001g0226 a0026c0057t0001g0105 a0027c0032t0001g0236 a0028c0033t0001g0238 a0029c0056t0002g0087 a0030c0038t0001g0055 a0031c0042t0002g0089 a0032c0046t0001g0230 a0033c0055t0001g0201 a0034c0049t0001g0039 a0035c0050t0001g0246 a0036c0045t0002g0062 a0037c0044t0002g0079 a0038c0051t0001g0210 a0042c0034t0001g0025 a0043c0062t0001g0120 a0044c0064t0001g0049 a0045c0063t0001g0191 a0046c0065t0001g0205 a0048c0059t0001g0155 a0050c0067t0001g0223 a0051c0068t0001g0128 a0052c0071t0001g0140 a0053c0070t0001g0139 a0054c0069t0001g0162 a0055c0072t0001g0177 a0056c0073t0001g0123 a0058c0074t0001g0147 a0059c0076t0001g0003	209	248	0.8427	c.201 others(4): Show c.2015T>G	p.Val others(6): Show p.Val672Gly	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	2048/12844	2015/12507	672/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73448563	A A	G G	missense_variant missense_variant	MODERATE	HG01256.hp2 HG01256.hp2	a0029 a0029	a0029c0056 a0029c0056	a0029c0056t0002 a0029c0056t0002	a0029c0056t0002g0087 a0029c0056t0002g0087	1	248	0.0040	c.203 others(4): Show c.2036A>G	p.Tyr others(6): Show p.Tyr679Cys	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	2069/12844	2036/12507	679/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73448881	A A	G G	missense_variant missense_variant	MODERATE	NA18945.hp1 NA18947.hp1 NA18956.hp1 others(1): Show NA18945.hp1 NA18947.hp1 NA18956.hp1 NA19089.hp2	a0016 a0042 a0016 a0042	a0016c0016 a0042c0034 a0016c0016 a0042c0034	a0016c0016t0001 a0016c0016t0005 a0042c0034t0001 a0016c0016t0001 a0016c0016t0005 a0042c0034t0001	a0016c0016t0001g0220 a0016c0016t0001g0221 a0016c0016t0005g0222 others(1): Show a0016c0016t0001g0220 a0016c0016t0001g0221 a0016c0016t0005g0222 a0042c0034t0001g0025	4	248	0.0161	c.235 others(4): Show c.2354A>G	p.Glu others(6): Show p.Glu785Gly	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	2387/12844	2354/12507	785/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73449589	A A	T T	missense_variant missense_variant	MODERATE	HG03225.hp2 HG03225.hp2	a0039 a0039	a0039c0037 a0039c0037	a0039c0037t0001 a0039c0037t0001	a0039c0037t0001g0032 a0039c0037t0001g0032	1	248	0.0040	c.306 others(4): Show c.3062A>T	p.Tyr others(7): Show p.Tyr1021Phe	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	3095/12844	3062/12507	1021/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73449720	T T	C C	missense_variant missense_variant	MODERATE	HG00738.hp1 HG01261.hp2 HG03516.hp2 HG00738.hp1 HG01261.hp2 HG03516.hp2	a0019 a0030 a0019 a0030	a0019c0018 a0030c0038 a0019c0018 a0030c0038	a0019c0018t0001 a0030c0038t0001 a0019c0018t0001 a0030c0038t0001	a0019c0018t0001g0056 a0019c0018t0001g0057 a0030c0038t0001g0055 a0019c0018t0001g0056 a0019c0018t0001g0057 a0030c0038t0001g0055	3	248	0.0121	c.319 others(4): Show c.3193T>C	p.Ser others(7): Show p.Ser1065Pro	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	3226/12844	3193/12507	1065/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73450681	C C	G G	missense_variant missense_variant	MODERATE	HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show HG00735.hp1 HG02451.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp2	a0008 a0027 a0028 a0008 a0027 a0028	a0008c0008 a0027c0032 a0028c0033 a0008c0008 a0027c0032 a0028c0033	a0008c0008t0001 a0027c0032t0001 a0028c0033t0001 a0008c0008t0001 a0027c0032t0001 a0028c0033t0001	a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 others(5): Show a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 a0008c0008t0001g0234 a0008c0008t0001g0235 a0008c0008t0001g0237 a0027c0032t0001g0236 a0028c0033t0001g0238	8	248	0.0323	c.415 others(4): Show c.4154C>G	p.Thr others(7): Show p.Thr1385Arg	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	4187/12844	4154/12507	1385/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73450771	G G	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18952.hp1 NA18966.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19079.hp1 NA19081.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0002 a0004 a0005 others(30): Show a0002 a0004 a0005 a0006 a0008 a0009 a0011 a0012 a0014 a0017 a0018 a0019 a0020 a0021 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0043 a0044 a0045 a0046	a0002c0004 a0002c0011 a0002c0020 others(46): Show a0002c0004 a0002c0011 a0002c0020 a0002c0023 a0002c0040 a0002c0041 a0002c0047 a0002c0052 a0002c0054 a0004c0003 a0004c0043 a0004c0053 a0005c0005 a0005c0058 a0006c0007 a0006c0010 a0008c0008 a0009c0013 a0009c0026 a0011c0022 a0011c0024 a0011c0048 a0012c0012 a0014c0021 a0014c0039 a0017c0017 a0018c0025 a0019c0018 a0020c0019 a0021c0029 a0024c0030 a0025c0031 a0026c0057 a0027c0032 a0028c0033 a0029c0056 a0030c0038 a0031c0042 a0032c0046 a0033c0055 a0034c0049 a0035c0050 a0036c0045 a0037c0044 a0038c0051 a0043c0062 a0044c0064 a0045c0063 a0046c0065	a0002c0004t0001 a0002c0011t0001 a0002c0020t0001 others(46): Show a0002c0004t0001 a0002c0011t0001 a0002c0020t0001 a0002c0023t0001 a0002c0040t0001 a0002c0041t0001 a0002c0047t0001 a0002c0052t0001 a0002c0054t0001 a0004c0003t0002 a0004c0043t0002 a0004c0053t0002 a0005c0005t0001 a0005c0058t0001 a0006c0007t0001 a0006c0010t0001 a0008c0008t0001 a0009c0013t0001 a0009c0026t0001 a0011c0022t0001 a0011c0024t0001 a0011c0048t0001 a0012c0012t0001 a0014c0021t0001 a0014c0039t0001 a0017c0017t0003 a0018c0025t0001 a0019c0018t0001 a0020c0019t0002 a0021c0029t0001 a0024c0030t0001 a0025c0031t0001 a0026c0057t0001 a0027c0032t0001 a0028c0033t0001 a0029c0056t0002 a0030c0038t0001 a0031c0042t0002 a0032c0046t0001 a0033c0055t0001 a0034c0049t0001 a0035c0050t0001 a0036c0045t0002 a0037c0044t0002 a0038c0051t0001 a0043c0062t0001 a0044c0064t0001 a0045c0063t0001 a0046c0065t0001	a0002c0004t0001g0005 a0002c0004t0001g0031 a0002c0004t0001g0033 others(125): Show a0002c0004t0001g0005 a0002c0004t0001g0031 a0002c0004t0001g0033 a0002c0004t0001g0034 a0002c0004t0001g0035 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0046 a0002c0004t0001g0048 a0002c0004t0001g0051 a0002c0004t0001g0052 a0002c0004t0001g0239 a0002c0004t0001g0247 a0002c0011t0001g0004 a0002c0011t0001g0006 a0002c0011t0001g0041 a0002c0011t0001g0042 a0002c0020t0001g0207 a0002c0020t0001g0208 a0002c0023t0001g0195 a0002c0023t0001g0196 a0002c0040t0001g0206 a0002c0041t0001g0094 a0002c0047t0001g0047 a0002c0052t0001g0040 a0002c0054t0001g0193 a0004c0003t0002g0064 a0004c0003t0002g0065 a0004c0003t0002g0066 a0004c0003t0002g0067 a0004c0003t0002g0068 a0004c0003t0002g0069 a0004c0003t0002g0070 a0004c0003t0002g0071 a0004c0003t0002g0072 a0004c0003t0002g0073 a0004c0003t0002g0074 a0004c0003t0002g0076 a0004c0003t0002g0077 a0004c0003t0002g0078 a0004c0003t0002g0080 a0004c0003t0002g0081 a0004c0003t0002g0083 a0004c0003t0002g0084 a0004c0003t0002g0085 a0004c0003t0002g0086 a0004c0003t0002g0088 a0004c0003t0002g0091 a0004c0043t0002g0082 a0004c0053t0002g0050 a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 a0005c0005t0001g0109 a0005c0005t0001g0111 a0005c0005t0001g0112 a0005c0005t0001g0113 a0005c0005t0001g0114 a0005c0005t0001g0115 a0005c0005t0001g0116 a0005c0005t0001g0117 a0005c0005t0001g0118 a0005c0058t0001g0110 a0006c0007t0001g0098 a0006c0007t0001g0099 a0006c0007t0001g0100 a0006c0007t0001g0101 a0006c0007t0001g0102 a0006c0007t0001g0228 a0006c0007t0001g0229 a0006c0010t0001g0096 a0006c0010t0001g0097 a0006c0010t0001g0103 a0006c0010t0001g0104 a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 a0008c0008t0001g0234 a0008c0008t0001g0235 a0008c0008t0001g0237 a0009c0013t0001g0240 a0009c0013t0001g0242 a0009c0013t0001g0244 a0009c0013t0001g0245 a0009c0026t0001g0241 a0009c0026t0001g0243 a0011c0022t0001g0199 a0011c0022t0001g0200 a0011c0024t0001g0194 a0011c0024t0001g0198 a0011c0048t0001g0197 a0012c0012t0001g0202 a0012c0012t0001g0203 a0012c0012t0001g0204 a0012c0012t0001g0209 a0014c0021t0001g0043 a0014c0021t0001g0044 a0014c0039t0001g0045 a0017c0017t0003g0224 a0017c0017t0003g0225 a0018c0025t0001g0053 a0018c0025t0001g0054 a0019c0018t0001g0056 a0019c0018t0001g0057 a0020c0019t0002g0075 a0020c0019t0002g0090 a0021c0029t0001g0119 a0021c0029t0001g0121 a0024c0030t0001g0227 a0025c0031t0001g0226 a0026c0057t0001g0105 a0027c0032t0001g0236 a0028c0033t0001g0238 a0029c0056t0002g0087 a0030c0038t0001g0055 a0031c0042t0002g0089 a0032c0046t0001g0230 a0033c0055t0001g0201 a0034c0049t0001g0039 a0035c0050t0001g0246 a0036c0045t0002g0062 a0037c0044t0002g0079 a0038c0051t0001g0210 a0043c0062t0001g0120 a0044c0064t0001g0049 a0045c0063t0001g0191 a0046c0065t0001g0205	128	248	0.5161	c.424 others(4): Show c.4244G>C	p.Gly others(7): Show p.Gly1415Ala	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	4277/12844	4244/12507	1415/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73450927	G G	T T	missense_variant missense_variant	MODERATE	HG03516.hp1 HG03516.hp1	a0038 a0038	a0038c0051 a0038c0051	a0038c0051t0001 a0038c0051t0001	a0038c0051t0001g0210 a0038c0051t0001g0210	1	248	0.0040	c.440 others(4): Show c.4400G>T	p.Gly others(7): Show p.Gly1467Val	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	4433/12844	4400/12507	1467/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73451489	G G	T T	missense_variant missense_variant	MODERATE	HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show HG00642.hp2 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp2 HG02293.hp1 HG02300.hp1 HG02976.hp1 HG03540.hp2 NA18966.hp1 NA19079.hp1 NA19081.hp1	a0005 a0005	a0005c0005 a0005c0058 a0005c0005 a0005c0058	a0005c0005t0001 a0005c0058t0001 a0005c0005t0001 a0005c0058t0001	a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 others(10): Show a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 a0005c0005t0001g0109 a0005c0005t0001g0111 a0005c0005t0001g0112 a0005c0005t0001g0113 a0005c0005t0001g0114 a0005c0005t0001g0115 a0005c0005t0001g0116 a0005c0005t0001g0117 a0005c0005t0001g0118 a0005c0058t0001g0110	13	248	0.0524	c.496 others(4): Show c.4962G>T	p.Lys others(7): Show p.Lys1654Asn	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	4995/12844	4962/12507	1654/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73451515	C C	T T	missense_variant missense_variant	MODERATE	HG02809.hp1 HG02809.hp1	a0057 a0057	a0057c0075 a0057c0075	a0057c0075t0001 a0057c0075t0001	a0057c0075t0001g0215 a0057c0075t0001g0215	1	248	0.0040	c.498 others(4): Show c.4988C>T	p.Thr others(7): Show p.Thr1663Ile	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	5021/12844	4988/12507	1663/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73451886	A A	G G	missense_variant missense_variant	MODERATE	HG00280.hp1 HG02602.hp2 homoSapiens_chm13v2.hp1 HG00280.hp1 HG02602.hp2 homoSapiens_chm13v2.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0001 a0015c0015t0001	a0015c0015t0001g0181 a0015c0015t0001g0190 a0015c0015t0001g0214 a0015c0015t0001g0181 a0015c0015t0001g0190 a0015c0015t0001g0214	3	248	0.0121	c.535 others(4): Show c.5359A>G	p.Asn others(7): Show p.Asn1787Asp	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	5392/12844	5359/12507	1787/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73451960	G G	C C	missense_variant missense_variant	MODERATE	HG02055.hp2 HG03540.hp1 HG02055.hp2 HG03540.hp1	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0003 a0017c0017t0003	a0017c0017t0003g0224 a0017c0017t0003g0225 a0017c0017t0003g0224 a0017c0017t0003g0225	2	248	0.0081	c.543 others(4): Show c.5433G>C	p.Lys others(7): Show p.Lys1811Asn	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	5466/12844	5433/12507	1811/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73452153	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(122): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18952.hp1 NA18966.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19079.hp1 NA19081.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0002 a0004 a0005 others(28): Show a0002 a0004 a0005 a0006 a0008 a0009 a0011 a0012 a0014 a0017 a0018 a0019 a0020 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0044 a0045 a0046	a0002c0004 a0002c0011 a0002c0020 others(44): Show a0002c0004 a0002c0011 a0002c0020 a0002c0023 a0002c0040 a0002c0041 a0002c0047 a0002c0052 a0002c0054 a0004c0003 a0004c0043 a0004c0053 a0005c0005 a0005c0058 a0006c0007 a0006c0010 a0008c0008 a0009c0013 a0009c0026 a0011c0022 a0011c0024 a0011c0048 a0012c0012 a0014c0021 a0014c0039 a0017c0017 a0018c0025 a0019c0018 a0020c0019 a0024c0030 a0025c0031 a0026c0057 a0027c0032 a0028c0033 a0029c0056 a0030c0038 a0031c0042 a0032c0046 a0033c0055 a0034c0049 a0035c0050 a0036c0045 a0037c0044 a0038c0051 a0044c0064 a0045c0063 a0046c0065	a0002c0004t0001 a0002c0011t0001 a0002c0020t0001 others(44): Show a0002c0004t0001 a0002c0011t0001 a0002c0020t0001 a0002c0023t0001 a0002c0040t0001 a0002c0041t0001 a0002c0047t0001 a0002c0052t0001 a0002c0054t0001 a0004c0003t0002 a0004c0043t0002 a0004c0053t0002 a0005c0005t0001 a0005c0058t0001 a0006c0007t0001 a0006c0010t0001 a0008c0008t0001 a0009c0013t0001 a0009c0026t0001 a0011c0022t0001 a0011c0024t0001 a0011c0048t0001 a0012c0012t0001 a0014c0021t0001 a0014c0039t0001 a0017c0017t0003 a0018c0025t0001 a0019c0018t0001 a0020c0019t0002 a0024c0030t0001 a0025c0031t0001 a0026c0057t0001 a0027c0032t0001 a0028c0033t0001 a0029c0056t0002 a0030c0038t0001 a0031c0042t0002 a0032c0046t0001 a0033c0055t0001 a0034c0049t0001 a0035c0050t0001 a0036c0045t0002 a0037c0044t0002 a0038c0051t0001 a0044c0064t0001 a0045c0063t0001 a0046c0065t0001	a0002c0004t0001g0005 a0002c0004t0001g0031 a0002c0004t0001g0033 others(122): Show a0002c0004t0001g0005 a0002c0004t0001g0031 a0002c0004t0001g0033 a0002c0004t0001g0034 a0002c0004t0001g0035 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0046 a0002c0004t0001g0048 a0002c0004t0001g0051 a0002c0004t0001g0052 a0002c0004t0001g0239 a0002c0004t0001g0247 a0002c0011t0001g0004 a0002c0011t0001g0006 a0002c0011t0001g0041 a0002c0011t0001g0042 a0002c0020t0001g0207 a0002c0020t0001g0208 a0002c0023t0001g0195 a0002c0023t0001g0196 a0002c0040t0001g0206 a0002c0041t0001g0094 a0002c0047t0001g0047 a0002c0052t0001g0040 a0002c0054t0001g0193 a0004c0003t0002g0064 a0004c0003t0002g0065 a0004c0003t0002g0066 a0004c0003t0002g0067 a0004c0003t0002g0068 a0004c0003t0002g0069 a0004c0003t0002g0070 a0004c0003t0002g0071 a0004c0003t0002g0072 a0004c0003t0002g0073 a0004c0003t0002g0074 a0004c0003t0002g0076 a0004c0003t0002g0077 a0004c0003t0002g0078 a0004c0003t0002g0080 a0004c0003t0002g0081 a0004c0003t0002g0083 a0004c0003t0002g0084 a0004c0003t0002g0085 a0004c0003t0002g0086 a0004c0003t0002g0088 a0004c0003t0002g0091 a0004c0043t0002g0082 a0004c0053t0002g0050 a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 a0005c0005t0001g0109 a0005c0005t0001g0111 a0005c0005t0001g0112 a0005c0005t0001g0113 a0005c0005t0001g0114 a0005c0005t0001g0115 a0005c0005t0001g0116 a0005c0005t0001g0117 a0005c0005t0001g0118 a0005c0058t0001g0110 a0006c0007t0001g0098 a0006c0007t0001g0099 a0006c0007t0001g0100 a0006c0007t0001g0101 a0006c0007t0001g0102 a0006c0007t0001g0228 a0006c0007t0001g0229 a0006c0010t0001g0096 a0006c0010t0001g0097 a0006c0010t0001g0103 a0006c0010t0001g0104 a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 a0008c0008t0001g0234 a0008c0008t0001g0235 a0008c0008t0001g0237 a0009c0013t0001g0240 a0009c0013t0001g0242 a0009c0013t0001g0244 a0009c0013t0001g0245 a0009c0026t0001g0241 a0009c0026t0001g0243 a0011c0022t0001g0199 a0011c0022t0001g0200 a0011c0024t0001g0194 a0011c0024t0001g0198 a0011c0048t0001g0197 a0012c0012t0001g0202 a0012c0012t0001g0203 a0012c0012t0001g0204 a0012c0012t0001g0209 a0014c0021t0001g0043 a0014c0021t0001g0044 a0014c0039t0001g0045 a0017c0017t0003g0224 a0017c0017t0003g0225 a0018c0025t0001g0053 a0018c0025t0001g0054 a0019c0018t0001g0056 a0019c0018t0001g0057 a0020c0019t0002g0075 a0020c0019t0002g0090 a0024c0030t0001g0227 a0025c0031t0001g0226 a0026c0057t0001g0105 a0027c0032t0001g0236 a0028c0033t0001g0238 a0029c0056t0002g0087 a0030c0038t0001g0055 a0031c0042t0002g0089 a0032c0046t0001g0230 a0033c0055t0001g0201 a0034c0049t0001g0039 a0035c0050t0001g0246 a0036c0045t0002g0062 a0037c0044t0002g0079 a0038c0051t0001g0210 a0044c0064t0001g0049 a0045c0063t0001g0191 a0046c0065t0001g0205	125	248	0.5040	c.562 others(4): Show c.5626A>G	p.Ile others(7): Show p.Ile1876Val	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	5659/12844	5626/12507	1876/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73452313	G G	A A	missense_variant missense_variant	MODERATE	HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show HG00642.hp2 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp2 HG02293.hp1 HG02300.hp1 HG02976.hp1 HG03540.hp2 NA18966.hp1 NA19079.hp1 NA19081.hp1	a0005 a0005	a0005c0005 a0005c0058 a0005c0005 a0005c0058	a0005c0005t0001 a0005c0058t0001 a0005c0005t0001 a0005c0058t0001	a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 others(10): Show a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 a0005c0005t0001g0109 a0005c0005t0001g0111 a0005c0005t0001g0112 a0005c0005t0001g0113 a0005c0005t0001g0114 a0005c0005t0001g0115 a0005c0005t0001g0116 a0005c0005t0001g0117 a0005c0005t0001g0118 a0005c0058t0001g0110	13	248	0.0524	c.578 others(4): Show c.5786G>A	p.Arg others(7): Show p.Arg1929Gln	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	5819/12844	5786/12507	1929/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73452355	G G	A A	missense_variant missense_variant	MODERATE	NA18952.hp1 NA18952.hp1	a0031 a0031	a0031c0042 a0031c0042	a0031c0042t0002 a0031c0042t0002	a0031c0042t0002g0089 a0031c0042t0002g0089	1	248	0.0040	c.582 others(4): Show c.5828G>A	p.Arg others(7): Show p.Arg1943His	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	5861/12844	5828/12507	1943/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73452739	T T	C C	missense_variant missense_variant	MODERATE	HG01069.hp2 HG01070.hp2 HG01109.hp2 others(27): Show HG01069.hp2 HG01070.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp2 HG01361.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp2 HG02809.hp2 HG03669.hp2 HG03688.hp2 HG04199.hp2 HG04204.hp2 NA18952.hp1 NA19058.hp1 NA20300.hp2 NA20752.hp1	a0004 a0020 a0029 others(3): Show a0004 a0020 a0029 a0031 a0036 a0037	a0004c0003 a0004c0043 a0004c0053 others(5): Show a0004c0003 a0004c0043 a0004c0053 a0020c0019 a0029c0056 a0031c0042 a0036c0045 a0037c0044	a0004c0003t0002 a0004c0043t0002 a0004c0053t0002 others(5): Show a0004c0003t0002 a0004c0043t0002 a0004c0053t0002 a0020c0019t0002 a0029c0056t0002 a0031c0042t0002 a0036c0045t0002 a0037c0044t0002	a0004c0003t0002g0064 a0004c0003t0002g0065 a0004c0003t0002g0066 others(27): Show a0004c0003t0002g0064 a0004c0003t0002g0065 a0004c0003t0002g0066 a0004c0003t0002g0067 a0004c0003t0002g0068 a0004c0003t0002g0069 a0004c0003t0002g0070 a0004c0003t0002g0071 a0004c0003t0002g0072 a0004c0003t0002g0073 a0004c0003t0002g0074 a0004c0003t0002g0076 a0004c0003t0002g0077 a0004c0003t0002g0078 a0004c0003t0002g0080 a0004c0003t0002g0081 a0004c0003t0002g0083 a0004c0003t0002g0084 a0004c0003t0002g0085 a0004c0003t0002g0086 a0004c0003t0002g0088 a0004c0003t0002g0091 a0004c0043t0002g0082 a0004c0053t0002g0050 a0020c0019t0002g0075 a0020c0019t0002g0090 a0029c0056t0002g0087 a0031c0042t0002g0089 a0036c0045t0002g0062 a0037c0044t0002g0079	30	248	0.1210	c.621 others(4): Show c.6212T>C	p.Ile others(7): Show p.Ile2071Thr	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	6245/12844	6212/12507	2071/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73452829	C C	T T	missense_variant missense_variant	MODERATE	HG02300.hp2 HG02735.hp2 HG02300.hp2 HG02735.hp2	a0020 a0020	a0020c0019 a0020c0019	a0020c0019t0002 a0020c0019t0002	a0020c0019t0002g0075 a0020c0019t0002g0090 a0020c0019t0002g0075 a0020c0019t0002g0090	2	248	0.0081	c.630 others(4): Show c.6302C>T	p.Ser others(7): Show p.Ser2101Leu	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	6335/12844	6302/12507	2101/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73452863	T T	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18952.hp1 NA18966.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19079.hp1 NA19081.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0002 a0004 a0005 others(30): Show a0002 a0004 a0005 a0006 a0008 a0009 a0011 a0012 a0014 a0017 a0018 a0019 a0020 a0021 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0043 a0044 a0045 a0046	a0002c0004 a0002c0011 a0002c0020 others(46): Show a0002c0004 a0002c0011 a0002c0020 a0002c0023 a0002c0040 a0002c0041 a0002c0047 a0002c0052 a0002c0054 a0004c0003 a0004c0043 a0004c0053 a0005c0005 a0005c0058 a0006c0007 a0006c0010 a0008c0008 a0009c0013 a0009c0026 a0011c0022 a0011c0024 a0011c0048 a0012c0012 a0014c0021 a0014c0039 a0017c0017 a0018c0025 a0019c0018 a0020c0019 a0021c0029 a0024c0030 a0025c0031 a0026c0057 a0027c0032 a0028c0033 a0029c0056 a0030c0038 a0031c0042 a0032c0046 a0033c0055 a0034c0049 a0035c0050 a0036c0045 a0037c0044 a0038c0051 a0043c0062 a0044c0064 a0045c0063 a0046c0065	a0002c0004t0001 a0002c0011t0001 a0002c0020t0001 others(46): Show a0002c0004t0001 a0002c0011t0001 a0002c0020t0001 a0002c0023t0001 a0002c0040t0001 a0002c0041t0001 a0002c0047t0001 a0002c0052t0001 a0002c0054t0001 a0004c0003t0002 a0004c0043t0002 a0004c0053t0002 a0005c0005t0001 a0005c0058t0001 a0006c0007t0001 a0006c0010t0001 a0008c0008t0001 a0009c0013t0001 a0009c0026t0001 a0011c0022t0001 a0011c0024t0001 a0011c0048t0001 a0012c0012t0001 a0014c0021t0001 a0014c0039t0001 a0017c0017t0003 a0018c0025t0001 a0019c0018t0001 a0020c0019t0002 a0021c0029t0001 a0024c0030t0001 a0025c0031t0001 a0026c0057t0001 a0027c0032t0001 a0028c0033t0001 a0029c0056t0002 a0030c0038t0001 a0031c0042t0002 a0032c0046t0001 a0033c0055t0001 a0034c0049t0001 a0035c0050t0001 a0036c0045t0002 a0037c0044t0002 a0038c0051t0001 a0043c0062t0001 a0044c0064t0001 a0045c0063t0001 a0046c0065t0001	a0002c0004t0001g0005 a0002c0004t0001g0031 a0002c0004t0001g0033 others(125): Show a0002c0004t0001g0005 a0002c0004t0001g0031 a0002c0004t0001g0033 a0002c0004t0001g0034 a0002c0004t0001g0035 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0046 a0002c0004t0001g0048 a0002c0004t0001g0051 a0002c0004t0001g0052 a0002c0004t0001g0239 a0002c0004t0001g0247 a0002c0011t0001g0004 a0002c0011t0001g0006 a0002c0011t0001g0041 a0002c0011t0001g0042 a0002c0020t0001g0207 a0002c0020t0001g0208 a0002c0023t0001g0195 a0002c0023t0001g0196 a0002c0040t0001g0206 a0002c0041t0001g0094 a0002c0047t0001g0047 a0002c0052t0001g0040 a0002c0054t0001g0193 a0004c0003t0002g0064 a0004c0003t0002g0065 a0004c0003t0002g0066 a0004c0003t0002g0067 a0004c0003t0002g0068 a0004c0003t0002g0069 a0004c0003t0002g0070 a0004c0003t0002g0071 a0004c0003t0002g0072 a0004c0003t0002g0073 a0004c0003t0002g0074 a0004c0003t0002g0076 a0004c0003t0002g0077 a0004c0003t0002g0078 a0004c0003t0002g0080 a0004c0003t0002g0081 a0004c0003t0002g0083 a0004c0003t0002g0084 a0004c0003t0002g0085 a0004c0003t0002g0086 a0004c0003t0002g0088 a0004c0003t0002g0091 a0004c0043t0002g0082 a0004c0053t0002g0050 a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 a0005c0005t0001g0109 a0005c0005t0001g0111 a0005c0005t0001g0112 a0005c0005t0001g0113 a0005c0005t0001g0114 a0005c0005t0001g0115 a0005c0005t0001g0116 a0005c0005t0001g0117 a0005c0005t0001g0118 a0005c0058t0001g0110 a0006c0007t0001g0098 a0006c0007t0001g0099 a0006c0007t0001g0100 a0006c0007t0001g0101 a0006c0007t0001g0102 a0006c0007t0001g0228 a0006c0007t0001g0229 a0006c0010t0001g0096 a0006c0010t0001g0097 a0006c0010t0001g0103 a0006c0010t0001g0104 a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 a0008c0008t0001g0234 a0008c0008t0001g0235 a0008c0008t0001g0237 a0009c0013t0001g0240 a0009c0013t0001g0242 a0009c0013t0001g0244 a0009c0013t0001g0245 a0009c0026t0001g0241 a0009c0026t0001g0243 a0011c0022t0001g0199 a0011c0022t0001g0200 a0011c0024t0001g0194 a0011c0024t0001g0198 a0011c0048t0001g0197 a0012c0012t0001g0202 a0012c0012t0001g0203 a0012c0012t0001g0204 a0012c0012t0001g0209 a0014c0021t0001g0043 a0014c0021t0001g0044 a0014c0039t0001g0045 a0017c0017t0003g0224 a0017c0017t0003g0225 a0018c0025t0001g0053 a0018c0025t0001g0054 a0019c0018t0001g0056 a0019c0018t0001g0057 a0020c0019t0002g0075 a0020c0019t0002g0090 a0021c0029t0001g0119 a0021c0029t0001g0121 a0024c0030t0001g0227 a0025c0031t0001g0226 a0026c0057t0001g0105 a0027c0032t0001g0236 a0028c0033t0001g0238 a0029c0056t0002g0087 a0030c0038t0001g0055 a0031c0042t0002g0089 a0032c0046t0001g0230 a0033c0055t0001g0201 a0034c0049t0001g0039 a0035c0050t0001g0246 a0036c0045t0002g0062 a0037c0044t0002g0079 a0038c0051t0001g0210 a0043c0062t0001g0120 a0044c0064t0001g0049 a0045c0063t0001g0191 a0046c0065t0001g0205	128	248	0.5161	c.633 others(4): Show c.6336T>A	p.Ser others(7): Show p.Ser2112Arg	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	6369/12844	6336/12507	2112/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73452991	A A	G G	missense_variant missense_variant	MODERATE	HG02886.hp2 NA19240.hp2 NA20129.hp1 HG02886.hp2 NA19240.hp2 NA20129.hp1	a0021 a0043 a0021 a0043	a0021c0029 a0043c0062 a0021c0029 a0043c0062	a0021c0029t0001 a0043c0062t0001 a0021c0029t0001 a0043c0062t0001	a0021c0029t0001g0119 a0021c0029t0001g0121 a0043c0062t0001g0120 a0021c0029t0001g0119 a0021c0029t0001g0121 a0043c0062t0001g0120	3	248	0.0121	c.646 others(4): Show c.6464A>G	p.Asp others(7): Show p.Asp2155Gly	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	6497/12844	6464/12507	2155/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73453080	C C	T T	missense_variant missense_variant	MODERATE	HG02055.hp2 HG03540.hp1 HG02055.hp2 HG03540.hp1	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0003 a0017c0017t0003	a0017c0017t0003g0224 a0017c0017t0003g0225 a0017c0017t0003g0224 a0017c0017t0003g0225	2	248	0.0081	c.655 others(4): Show c.6553C>T	p.Pro others(7): Show p.Pro2185Ser	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	6586/12844	6553/12507	2185/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73453102	G G	A A	missense_variant missense_variant	MODERATE	NA18966.hp2 NA18966.hp2	a0050 a0050	a0050c0067 a0050c0067	a0050c0067t0001 a0050c0067t0001	a0050c0067t0001g0223 a0050c0067t0001g0223	1	248	0.0040	c.657 others(4): Show c.6575G>A	p.Gly others(7): Show p.Gly2192Asp	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	6608/12844	6575/12507	2192/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73453279	A A	G G	missense_variant missense_variant	MODERATE	HG02622.hp2 HG03486.hp2 HG02622.hp2 HG03486.hp2	a0035 a0045 a0035 a0045	a0035c0050 a0045c0063 a0035c0050 a0045c0063	a0035c0050t0001 a0045c0063t0001 a0035c0050t0001 a0045c0063t0001	a0035c0050t0001g0246 a0045c0063t0001g0191 a0035c0050t0001g0246 a0045c0063t0001g0191	2	248	0.0081	c.675 others(4): Show c.6752A>G	p.Asp others(7): Show p.Asp2251Gly	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	6785/12844	6752/12507	2251/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73453326	A A	G G	missense_variant missense_variant	MODERATE	NA18950.hp1 NA18950.hp1	a0055 a0055	a0055c0072 a0055c0072	a0055c0072t0001 a0055c0072t0001	a0055c0072t0001g0177 a0055c0072t0001g0177	1	248	0.0040	c.679 others(4): Show c.6799A>G	p.Met others(7): Show p.Met2267Val	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	6832/12844	6799/12507	2267/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73453339	A A	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0034 a0034	a0034c0049 a0034c0049	a0034c0049t0001 a0034c0049t0001	a0034c0049t0001g0039 a0034c0049t0001g0039	1	248	0.0040	c.681 others(4): Show c.6812A>G	p.Asn others(7): Show p.Asn2271Ser	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	6845/12844	6812/12507	2271/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73453381	G G	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(125): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18952.hp1 NA18966.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19079.hp1 NA19081.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0002 a0004 a0005 others(30): Show a0002 a0004 a0005 a0006 a0008 a0009 a0011 a0012 a0014 a0017 a0018 a0019 a0020 a0021 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0043 a0044 a0045 a0046	a0002c0004 a0002c0011 a0002c0020 others(46): Show a0002c0004 a0002c0011 a0002c0020 a0002c0023 a0002c0040 a0002c0041 a0002c0047 a0002c0052 a0002c0054 a0004c0003 a0004c0043 a0004c0053 a0005c0005 a0005c0058 a0006c0007 a0006c0010 a0008c0008 a0009c0013 a0009c0026 a0011c0022 a0011c0024 a0011c0048 a0012c0012 a0014c0021 a0014c0039 a0017c0017 a0018c0025 a0019c0018 a0020c0019 a0021c0029 a0024c0030 a0025c0031 a0026c0057 a0027c0032 a0028c0033 a0029c0056 a0030c0038 a0031c0042 a0032c0046 a0033c0055 a0034c0049 a0035c0050 a0036c0045 a0037c0044 a0038c0051 a0043c0062 a0044c0064 a0045c0063 a0046c0065	a0002c0004t0001 a0002c0011t0001 a0002c0020t0001 others(46): Show a0002c0004t0001 a0002c0011t0001 a0002c0020t0001 a0002c0023t0001 a0002c0040t0001 a0002c0041t0001 a0002c0047t0001 a0002c0052t0001 a0002c0054t0001 a0004c0003t0002 a0004c0043t0002 a0004c0053t0002 a0005c0005t0001 a0005c0058t0001 a0006c0007t0001 a0006c0010t0001 a0008c0008t0001 a0009c0013t0001 a0009c0026t0001 a0011c0022t0001 a0011c0024t0001 a0011c0048t0001 a0012c0012t0001 a0014c0021t0001 a0014c0039t0001 a0017c0017t0003 a0018c0025t0001 a0019c0018t0001 a0020c0019t0002 a0021c0029t0001 a0024c0030t0001 a0025c0031t0001 a0026c0057t0001 a0027c0032t0001 a0028c0033t0001 a0029c0056t0002 a0030c0038t0001 a0031c0042t0002 a0032c0046t0001 a0033c0055t0001 a0034c0049t0001 a0035c0050t0001 a0036c0045t0002 a0037c0044t0002 a0038c0051t0001 a0043c0062t0001 a0044c0064t0001 a0045c0063t0001 a0046c0065t0001	a0002c0004t0001g0005 a0002c0004t0001g0031 a0002c0004t0001g0033 others(125): Show a0002c0004t0001g0005 a0002c0004t0001g0031 a0002c0004t0001g0033 a0002c0004t0001g0034 a0002c0004t0001g0035 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0046 a0002c0004t0001g0048 a0002c0004t0001g0051 a0002c0004t0001g0052 a0002c0004t0001g0239 a0002c0004t0001g0247 a0002c0011t0001g0004 a0002c0011t0001g0006 a0002c0011t0001g0041 a0002c0011t0001g0042 a0002c0020t0001g0207 a0002c0020t0001g0208 a0002c0023t0001g0195 a0002c0023t0001g0196 a0002c0040t0001g0206 a0002c0041t0001g0094 a0002c0047t0001g0047 a0002c0052t0001g0040 a0002c0054t0001g0193 a0004c0003t0002g0064 a0004c0003t0002g0065 a0004c0003t0002g0066 a0004c0003t0002g0067 a0004c0003t0002g0068 a0004c0003t0002g0069 a0004c0003t0002g0070 a0004c0003t0002g0071 a0004c0003t0002g0072 a0004c0003t0002g0073 a0004c0003t0002g0074 a0004c0003t0002g0076 a0004c0003t0002g0077 a0004c0003t0002g0078 a0004c0003t0002g0080 a0004c0003t0002g0081 a0004c0003t0002g0083 a0004c0003t0002g0084 a0004c0003t0002g0085 a0004c0003t0002g0086 a0004c0003t0002g0088 a0004c0003t0002g0091 a0004c0043t0002g0082 a0004c0053t0002g0050 a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 a0005c0005t0001g0109 a0005c0005t0001g0111 a0005c0005t0001g0112 a0005c0005t0001g0113 a0005c0005t0001g0114 a0005c0005t0001g0115 a0005c0005t0001g0116 a0005c0005t0001g0117 a0005c0005t0001g0118 a0005c0058t0001g0110 a0006c0007t0001g0098 a0006c0007t0001g0099 a0006c0007t0001g0100 a0006c0007t0001g0101 a0006c0007t0001g0102 a0006c0007t0001g0228 a0006c0007t0001g0229 a0006c0010t0001g0096 a0006c0010t0001g0097 a0006c0010t0001g0103 a0006c0010t0001g0104 a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 a0008c0008t0001g0234 a0008c0008t0001g0235 a0008c0008t0001g0237 a0009c0013t0001g0240 a0009c0013t0001g0242 a0009c0013t0001g0244 a0009c0013t0001g0245 a0009c0026t0001g0241 a0009c0026t0001g0243 a0011c0022t0001g0199 a0011c0022t0001g0200 a0011c0024t0001g0194 a0011c0024t0001g0198 a0011c0048t0001g0197 a0012c0012t0001g0202 a0012c0012t0001g0203 a0012c0012t0001g0204 a0012c0012t0001g0209 a0014c0021t0001g0043 a0014c0021t0001g0044 a0014c0039t0001g0045 a0017c0017t0003g0224 a0017c0017t0003g0225 a0018c0025t0001g0053 a0018c0025t0001g0054 a0019c0018t0001g0056 a0019c0018t0001g0057 a0020c0019t0002g0075 a0020c0019t0002g0090 a0021c0029t0001g0119 a0021c0029t0001g0121 a0024c0030t0001g0227 a0025c0031t0001g0226 a0026c0057t0001g0105 a0027c0032t0001g0236 a0028c0033t0001g0238 a0029c0056t0002g0087 a0030c0038t0001g0055 a0031c0042t0002g0089 a0032c0046t0001g0230 a0033c0055t0001g0201 a0034c0049t0001g0039 a0035c0050t0001g0246 a0036c0045t0002g0062 a0037c0044t0002g0079 a0038c0051t0001g0210 a0043c0062t0001g0120 a0044c0064t0001g0049 a0045c0063t0001g0191 a0046c0065t0001g0205	128	248	0.5161	c.685 others(4): Show c.6854G>C	p.Arg others(7): Show p.Arg2285Pro	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	6887/12844	6854/12507	2285/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73453795	A A	G G	missense_variant missense_variant	MODERATE	HG02886.hp2 NA19240.hp2 NA20129.hp1 HG02886.hp2 NA19240.hp2 NA20129.hp1	a0021 a0043 a0021 a0043	a0021c0029 a0043c0062 a0021c0029 a0043c0062	a0021c0029t0001 a0043c0062t0001 a0021c0029t0001 a0043c0062t0001	a0021c0029t0001g0119 a0021c0029t0001g0121 a0043c0062t0001g0120 a0021c0029t0001g0119 a0021c0029t0001g0121 a0043c0062t0001g0120	3	248	0.0121	c.726 others(4): Show c.7268A>G	p.Asn others(7): Show p.Asn2423Ser	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	8/23	7301/12844	7268/12507	2423/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73455204	C C	T T	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02257.hp2	a0047 a0047	a0047c0061 a0047c0061	a0047c0061t0001 a0047c0061t0001	a0047c0061t0001g0183 a0047c0061t0001g0183	1	248	0.0040	c.758 others(4): Show c.7583C>T	p.Ser others(7): Show p.Ser2528Phe	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	9/23	7616/12844	7583/12507	2528/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73489683	G G	A A	missense_variant missense_variant	MODERATE	HG00621.hp2 HG01106.hp2 HG01192.hp1 others(35): Show HG00621.hp2 HG01106.hp2 HG01192.hp1 HG02071.hp2 HG02257.hp2 HG02572.hp1 HG02698.hp2 HG02809.hp1 HG03017.hp1 HG03225.hp2 HG03471.hp1 HG03927.hp1 NA18906.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18954.hp2 NA18956.hp2 NA18962.hp1 NA18969.hp2 NA18971.hp2 NA18977.hp2 NA18983.hp1 NA18985.hp2 NA18989.hp1 NA18990.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19009.hp2 NA19074.hp2 NA19081.hp2 NA19089.hp1 NA20905.hp2	a0003 a0010 a0022 others(5): Show a0003 a0010 a0022 a0039 a0040 a0041 a0047 a0057	a0003c0002 a0010c0009 a0022c0028 others(5): Show a0003c0002 a0010c0009 a0022c0028 a0039c0037 a0040c0036 a0041c0035 a0047c0061 a0057c0075	a0003c0002t0001 a0010c0009t0001 a0022c0028t0001 others(5): Show a0003c0002t0001 a0010c0009t0001 a0022c0028t0001 a0039c0037t0001 a0040c0036t0001 a0041c0035t0001 a0047c0061t0001 a0057c0075t0001	a0003c0002t0001g0008 a0003c0002t0001g0011 a0003c0002t0001g0012 others(35): Show a0003c0002t0001g0008 a0003c0002t0001g0011 a0003c0002t0001g0012 a0003c0002t0001g0013 a0003c0002t0001g0014 a0003c0002t0001g0015 a0003c0002t0001g0017 a0003c0002t0001g0018 a0003c0002t0001g0019 a0003c0002t0001g0020 a0003c0002t0001g0021 a0003c0002t0001g0022 a0003c0002t0001g0023 a0003c0002t0001g0024 a0003c0002t0001g0026 a0003c0002t0001g0028 a0003c0002t0001g0029 a0003c0002t0001g0030 a0003c0002t0001g0058 a0003c0002t0001g0059 a0003c0002t0001g0060 a0003c0002t0001g0061 a0003c0002t0001g0063 a0003c0002t0001g0092 a0003c0002t0001g0093 a0010c0009t0001g0168 a0010c0009t0001g0169 a0010c0009t0001g0184 a0010c0009t0001g0185 a0010c0009t0001g0187 a0010c0009t0001g0188 a0022c0028t0001g0009 a0022c0028t0001g0010 a0039c0037t0001g0032 a0040c0036t0001g0027 a0041c0035t0001g0016 a0047c0061t0001g0183 a0057c0075t0001g0215	38	248	0.1532	c.772 others(4): Show c.7724G>A	p.Ser others(7): Show p.Ser2575Asn	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	10/23	7757/12844	7724/12507	2575/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73489976	G G	C C	missense_variant missense_variant	MODERATE	HG00621.hp2 HG01106.hp2 HG01192.hp1 others(38): Show HG00621.hp2 HG01106.hp2 HG01192.hp1 HG02071.hp2 HG02257.hp2 HG02572.hp1 HG02698.hp2 HG02809.hp1 HG02886.hp2 HG03017.hp1 HG03225.hp2 HG03471.hp1 HG03927.hp1 NA18906.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18954.hp2 NA18956.hp2 NA18962.hp1 NA18969.hp2 NA18971.hp2 NA18977.hp2 NA18983.hp1 NA18985.hp2 NA18989.hp1 NA18990.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19009.hp2 NA19074.hp2 NA19081.hp2 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp2	a0003 a0010 a0021 others(7): Show a0003 a0010 a0021 a0022 a0039 a0040 a0041 a0043 a0047 a0057	a0003c0002 a0010c0009 a0021c0029 others(7): Show a0003c0002 a0010c0009 a0021c0029 a0022c0028 a0039c0037 a0040c0036 a0041c0035 a0043c0062 a0047c0061 a0057c0075	a0003c0002t0001 a0010c0009t0001 a0021c0029t0001 others(7): Show a0003c0002t0001 a0010c0009t0001 a0021c0029t0001 a0022c0028t0001 a0039c0037t0001 a0040c0036t0001 a0041c0035t0001 a0043c0062t0001 a0047c0061t0001 a0057c0075t0001	a0003c0002t0001g0008 a0003c0002t0001g0011 a0003c0002t0001g0012 others(38): Show a0003c0002t0001g0008 a0003c0002t0001g0011 a0003c0002t0001g0012 a0003c0002t0001g0013 a0003c0002t0001g0014 a0003c0002t0001g0015 a0003c0002t0001g0017 a0003c0002t0001g0018 a0003c0002t0001g0019 a0003c0002t0001g0020 a0003c0002t0001g0021 a0003c0002t0001g0022 a0003c0002t0001g0023 a0003c0002t0001g0024 a0003c0002t0001g0026 a0003c0002t0001g0028 a0003c0002t0001g0029 a0003c0002t0001g0030 a0003c0002t0001g0058 a0003c0002t0001g0059 a0003c0002t0001g0060 a0003c0002t0001g0061 a0003c0002t0001g0063 a0003c0002t0001g0092 a0003c0002t0001g0093 a0010c0009t0001g0168 a0010c0009t0001g0169 a0010c0009t0001g0184 a0010c0009t0001g0185 a0010c0009t0001g0187 a0010c0009t0001g0188 a0021c0029t0001g0119 a0021c0029t0001g0121 a0022c0028t0001g0009 a0022c0028t0001g0010 a0039c0037t0001g0032 a0040c0036t0001g0027 a0041c0035t0001g0016 a0043c0062t0001g0120 a0047c0061t0001g0183 a0057c0075t0001g0215	41	248	0.1653	c.801 others(4): Show c.8017G>C	p.Asp others(7): Show p.Asp2673His	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	10/23	8050/12844	8017/12507	2673/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73490237	C C	T T	missense_variant missense_variant	MODERATE	NA19043.hp1 NA19043.hp1	a0033 a0033	a0033c0055 a0033c0055	a0033c0055t0001 a0033c0055t0001	a0033c0055t0001g0201 a0033c0055t0001g0201	1	248	0.0040	c.827 others(4): Show c.8278C>T	p.Pro others(7): Show p.Pro2760Ser	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	10/23	8311/12844	8278/12507	2760/4168	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73490280	T T	G G	missense_variant missense_variant	MODERATE	HG03710.hp1 HG03710.hp1	a0051 a0051	a0051c0068 a0051c0068	a0051c0068t0001 a0051c0068t0001	a0051c0068t0001g0128 a0051c0068t0001g0128	1	248	0.0040	c.832 others(4): Show c.8321T>G	p.Phe others(7): Show p.Phe2774Cys	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	10/23	8354/12844	8321/12507	2774/4168	chr2	TogoVar

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