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
ANKFN1_chr17_56148475_56522016	56372712	G G	A A	missense_variant missense_variant	MODERATE	HG03041.hp2 HG03486.hp1 HG03041.hp2 HG03486.hp1	a0008 a0009 a0008 a0009	a0008c0019 a0009c0018 a0008c0019 a0009c0018	a0008c0019t0006 a0009c0018t0006 a0008c0019t0006 a0009c0018t0006	a0008c0019t0006g0037 a0009c0018t0006g0027 a0008c0019t0006g0037 a0009c0018t0006g0027	2	112	0.0179	c.668 others(3): Show c.668G>A	p.Ser others(6): Show p.Ser223Asn	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	7/21	794/9314	668/3441	223/1146	chr17	TogoVar
ANKFN1_chr17_56148475_56522016	56457273	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00621.hp1 HG00621.hp2 others(65): Show HG00280.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00741.hp2 HG01106.hp2 HG01243.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02717.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03831.hp1 HG03927.hp1 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18981.hp1 NA18981.hp2 NA18988.hp1 NA19043.hp2 NA19054.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0007 a0010 a0012	a0001c0001 a0001c0004 a0001c0007 others(17): Show a0001c0001 a0001c0004 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0023 a0001c0026 a0001c0028 a0003c0003 a0003c0006 a0003c0020 a0003c0024 a0005c0013 a0005c0022 a0005c0029 a0007c0027 a0007c0032 a0010c0025 a0012c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0028 a0001c0001t0029 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0006 a0001c0004t0011 a0001c0004t0015 a0001c0007t0007 a0001c0007t0010 a0001c0007t0011 a0001c0007t0025 a0001c0009t0001 a0001c0010t0007 a0001c0010t0015 a0001c0010t0026 a0001c0011t0014 a0001c0023t0023 a0001c0026t0001 a0001c0028t0005 a0003c0003t0003 a0003c0003t0012 a0003c0006t0009 a0003c0006t0018 a0003c0020t0020 a0003c0024t0003 a0005c0013t0004 a0005c0013t0027 a0005c0022t0017 a0005c0029t0021 a0007c0027t0024 a0007c0032t0007 a0010c0025t0001 a0012c0015t0003	a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0048 others(65): Show a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0002g0084 a0001c0001t0008g0025 a0001c0001t0008g0075 a0001c0001t0008g0103 a0001c0001t0028g0060 a0001c0001t0029g0100 a0001c0004t0001g0051 a0001c0004t0002g0029 a0001c0004t0005g0006 a0001c0004t0006g0079 a0001c0004t0011g0065 a0001c0004t0011g0090 a0001c0004t0015g0010 a0001c0007t0007g0061 a0001c0007t0010g0108 a0001c0007t0011g0007 a0001c0007t0025g0039 a0001c0009t0001g0017 a0001c0009t0001g0073 a0001c0009t0001g0076 a0001c0010t0007g0069 a0001c0010t0015g0021 a0001c0010t0026g0009 a0001c0011t0014g0022 a0001c0011t0014g0045 a0001c0023t0023g0085 a0001c0026t0001g0105 a0001c0028t0005g0054 a0003c0003t0003g0002 a0003c0003t0003g0036 a0003c0003t0003g0089 a0003c0003t0003g0109 a0003c0003t0003g0111 a0003c0003t0003g0112 a0003c0003t0012g0003 a0003c0006t0009g0014 a0003c0006t0009g0058 a0003c0006t0009g0059 a0003c0006t0018g0020 a0003c0006t0018g0057 a0003c0020t0020g0068 a0003c0024t0003g0097 a0005c0013t0004g0033 a0005c0013t0027g0052 a0005c0022t0017g0046 a0005c0029t0021g0066 a0007c0027t0024g0062 a0007c0032t0007g0087 a0010c0025t0001g0092 a0012c0015t0003g0008	68	112	0.6071	c.132 others(4): Show c.1324G>A	p.Val others(6): Show p.Val442Ile	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	13/21	1450/9314	1324/3441	442/1146	chr17	TogoVar
ANKFN1_chr17_56148475_56522016	56457905	A A	G G	missense_variant missense_variant	MODERATE	HG02109.hp1 NA21309.hp2 HG02109.hp1 NA21309.hp2	a0007 a0007	a0007c0027 a0007c0032 a0007c0027 a0007c0032	a0007c0027t0024 a0007c0032t0007 a0007c0027t0024 a0007c0032t0007	a0007c0027t0024g0062 a0007c0032t0007g0087 a0007c0027t0024g0062 a0007c0032t0007g0087	2	112	0.0179	c.148 others(4): Show c.1483A>G	p.Ile others(6): Show p.Ile495Val	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	14/21	1609/9314	1483/3441	495/1146	chr17	TogoVar
ANKFN1_chr17_56148475_56522016	56499041	G G	C C	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02280.hp2 HG02559.hp1 others(9): Show HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02886.hp1 HG03098.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03540.hp2 NA19043.hp1 NA20129.hp1	a0004 a0005 a0009 a0004 a0005 a0009	a0004c0005 a0005c0013 a0005c0022 others(2): Show a0004c0005 a0005c0013 a0005c0022 a0005c0029 a0009c0018	a0004c0005t0004 a0004c0005t0005 a0005c0013t0004 others(4): Show a0004c0005t0004 a0004c0005t0005 a0005c0013t0004 a0005c0013t0027 a0005c0022t0017 a0005c0029t0021 a0009c0018t0006	a0004c0005t0004g0005 a0004c0005t0004g0011 a0004c0005t0004g0093 others(9): Show a0004c0005t0004g0005 a0004c0005t0004g0011 a0004c0005t0004g0093 a0004c0005t0004g0095 a0004c0005t0004g0096 a0004c0005t0005g0004 a0004c0005t0005g0056 a0005c0013t0004g0033 a0005c0013t0027g0052 a0005c0022t0017g0046 a0005c0029t0021g0066 a0009c0018t0006g0027	12	112	0.1071	c.258 others(4): Show c.2587G>C	p.Asp others(6): Show p.Asp863His	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	20/21	2713/9314	2587/3441	863/1146	chr17	TogoVar
ANKFN1_chr17_56148475_56522016	56510850	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00639.hp2 HG01243.hp1 others(13): Show HG00639.hp1 HG00639.hp2 HG01243.hp1 HG01496.hp2 HG01884.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2 NA18906.hp1 NA18906.hp2	a0003 a0011 a0012 a0003 a0011 a0012	a0003c0003 a0003c0006 a0003c0020 others(3): Show a0003c0003 a0003c0006 a0003c0020 a0003c0024 a0011c0016 a0012c0015	a0003c0003t0003 a0003c0003t0012 a0003c0006t0009 others(5): Show a0003c0003t0003 a0003c0003t0012 a0003c0006t0009 a0003c0006t0018 a0003c0020t0020 a0003c0024t0003 a0011c0016t0012 a0012c0015t0003	a0003c0003t0003g0002 a0003c0003t0003g0036 a0003c0003t0003g0089 others(13): Show a0003c0003t0003g0002 a0003c0003t0003g0036 a0003c0003t0003g0089 a0003c0003t0003g0109 a0003c0003t0003g0111 a0003c0003t0003g0112 a0003c0003t0012g0003 a0003c0006t0009g0014 a0003c0006t0009g0058 a0003c0006t0009g0059 a0003c0006t0018g0020 a0003c0006t0018g0057 a0003c0020t0020g0068 a0003c0024t0003g0097 a0011c0016t0012g0077 a0012c0015t0003g0008	16	112	0.1429	c.302 others(4): Show c.3022T>C	p.Tyr others(7): Show p.Tyr1008His	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	21/21	3148/9314	3022/3441	1008/1146	chr17	TogoVar
ANKFN1_chr17_56148475_56522016	56511039	A A	G G	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02055.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0001 a0010c0025t0001	a0010c0025t0001g0092 a0010c0025t0001g0092	1	112	0.0089	c.321 others(4): Show c.3211A>G	p.Ser others(7): Show p.Ser1071Gly	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	21/21	3337/9314	3211/3441	1071/1146	chr17	TogoVar
ANKFN1_chr17_56148475_56522016	56511040	G G	A A	missense_variant missense_variant	MODERATE	HG02055.hp2 HG03139.hp1 NA19030.hp2 HG02055.hp2 HG03139.hp1 NA19030.hp2	a0006 a0006	a0006c0014 a0006c0031 a0006c0014 a0006c0031	a0006c0014t0006 a0006c0014t0022 a0006c0031t0006 a0006c0014t0006 a0006c0014t0022 a0006c0031t0006	a0006c0014t0006g0064 a0006c0014t0022g0067 a0006c0031t0006g0044 a0006c0014t0006g0064 a0006c0014t0022g0067 a0006c0031t0006g0044	3	112	0.0268	c.321 others(4): Show c.3212G>A	p.Ser others(7): Show p.Ser1071Asn	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	21/21	3338/9314	3212/3441	1071/1146	chr17	TogoVar
ANKFY1_chr17_4158821_4268979	4197563	C C	G G	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0028 a0002c0011t0028	a0002c0011t0028g0297 a0002c0011t0028g0297	1	300	0.0033	c.913 others(3): Show c.913G>C	p.Ala others(6): Show p.Ala305Pro	ANKFY1	ENSG00000185722.18	transcript	ENST00000341657.9	protein_coding	8/25	951/7506	913/3510	305/1169	chr17	TogoVar
ANKHD1_chr5_140396833_140544849	140497209	G G	A A	missense_variant missense_variant	MODERATE	HG02896.hp2 HG02896.hp2	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0107 a0011c0008t0001g0107	1	322	0.0031	c.293 others(4): Show c.2935G>A	p.Glu others(6): Show p.Glu979Lys	ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	15/34	3070/8195	2935/7629	979/2542	chr5	TogoVar
ANKHD1_chr5_140396833_140544849	140504893	G G	C C	missense_variant missense_variant	MODERATE	NA18983.hp1 NA18991.hp2 NA18983.hp1 NA18991.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0001	a0005c0003t0001g0025 a0005c0003t0001g0116 a0005c0003t0001g0025 a0005c0003t0001g0116	2	322	0.0062	c.307 others(4): Show c.3077G>C	p.Cys others(7): Show p.Cys1026Ser	ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	16/34	3212/8195	3077/7629	1026/2542	chr5	TogoVar
ANKHD1_chr5_140396833_140544849	140526259	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00280.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0101 a0010c0010t0001g0101	1	322	0.0031	c.475 others(4): Show c.4756G>A	p.Gly others(7): Show p.Gly1586Ser	ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	26/34	4891/8195	4756/7629	1586/2542	chr5	TogoVar
ANKHD1_chr5_140396833_140544849	140528225	A A	G G	missense_variant missense_variant	MODERATE	NA18968.hp2 NA18973.hp1 NA18980.hp1 others(2): Show NA18968.hp2 NA18973.hp1 NA18980.hp1 NA19007.hp1 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0282 a0002c0002t0001g0283 others(2): Show a0002c0002t0001g0118 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0319	5	322	0.0155	c.527 others(4): Show c.5279A>G	p.Asn others(7): Show p.Asn1760Ser	ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	29/34	5414/8195	5279/7629	1760/2542	chr5	TogoVar
ANKHD1_chr5_140396833_140544849	140529341	G G	A A	missense_variant missense_variant	MODERATE	HG03486.hp1 HG03486.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0028 a0006c0013t0001g0028	1	322	0.0031	c.639 others(4): Show c.6395G>A	p.Arg others(7): Show p.Arg2132Gln	ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	29/34	6530/8195	6395/7629	2132/2542	chr5	TogoVar
ANKHD1_chr5_140396833_140544849	140529451	C C	T T	missense_variant missense_variant	MODERATE	HG03139.hp2 HG03139.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0199 a0009c0016t0001g0199	1	322	0.0031	c.650 others(4): Show c.6505C>T	p.Pro others(7): Show p.Pro2169Ser	ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	29/34	6640/8195	6505/7629	2169/2542	chr5	TogoVar
ANKHD1_chr5_140396833_140544849	140529481	C C	T T	missense_variant missense_variant	MODERATE	HG01934.hp2 HG01934.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0171 a0007c0015t0001g0171	1	322	0.0031	c.653 others(4): Show c.6535C>T	p.Leu others(7): Show p.Leu2179Phe	ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	29/34	6670/8195	6535/7629	2179/2542	chr5	TogoVar
ANKHD1_chr5_140396833_140544849	140529553	A A	C C	missense_variant missense_variant	MODERATE	NA20805.hp2 NA20805.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0222 a0008c0014t0001g0222	1	322	0.0031	c.660 others(4): Show c.6607A>C	p.Thr others(7): Show p.Thr2203Pro	ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	29/34	6742/8195	6607/7629	2203/2542	chr5	TogoVar
ANKHD1_chr5_140396833_140544849	140537517	C C	G G	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02965.hp2 HG02280.hp2 HG02965.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0139 a0003c0005t0001g0146 a0003c0005t0001g0139 a0003c0005t0001g0146	2	322	0.0062	c.715 others(4): Show c.7156C>G	p.Pro others(7): Show p.Pro2386Ala	ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	31/34	7291/8195	7156/7629	2386/2542	chr5	TogoVar
ANKHD1_chr5_140396833_140544849	140538215	A A	G G	missense_variant missense_variant	MODERATE	HG02109.hp2 HG03130.hp2 HG02109.hp2 HG03130.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0038 a0004c0004t0001g0087 a0004c0004t0001g0038 a0004c0004t0001g0087	2	322	0.0062	c.735 others(4): Show c.7358A>G	p.Asn others(7): Show p.Asn2453Ser	ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	32/34	7493/8195	7358/7629	2453/2542	chr5	TogoVar
ANKH_chr5_14699800_14876778	14711223	C C	T T	missense_variant missense_variant	MODERATE	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0136 a0002c0006t0001g0136	1	232	0.0043	c.145 others(4): Show c.1453G>A	p.Val others(6): Show p.Val485Met	ANKH	ENSG00000154122.14	transcript	ENST00000284268.8	protein_coding	12/12	1784/8207	1453/1479	485/492	chr5	TogoVar
ANKIB1_chr7_92240974_92406383	92390016	A A	G G	missense_variant missense_variant	MODERATE	HG00597.hp2 NA18970.hp1 NA18984.hp2 others(3): Show HG00597.hp2 NA18970.hp1 NA18984.hp2 NA19003.hp1 NA19088.hp1 NA19090.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0020 a0003c0006t0002 a0003c0006t0020	a0003c0006t0002g0299 a0003c0006t0002g0300 a0003c0006t0002g0301 others(3): Show a0003c0006t0002g0299 a0003c0006t0002g0300 a0003c0006t0002g0301 a0003c0006t0002g0302 a0003c0006t0002g0304 a0003c0006t0020g0303	6	314	0.0191	c.195 others(4): Show c.1952A>G	p.His others(6): Show p.His651Arg	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	15/20	2588/6340	1952/3270	651/1089	chr7	TogoVar
ANKIB1_chr7_92240974_92406383	92398374	G G	T T	missense_variant missense_variant	MODERATE	NA19074.hp1 NA19074.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0009 a0005c0011t0009	a0005c0011t0009g0114 a0005c0011t0009g0114	1	314	0.0032	c.269 others(4): Show c.2695G>T	p.Val others(6): Show p.Val899Phe	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	20/20	3331/6340	2695/3270	899/1089	chr7	TogoVar
ANKIB1_chr7_92240974_92406383	92398701	T T	C C	missense_variant missense_variant	MODERATE	NA18979.hp1 NA18979.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0200 a0006c0010t0003g0200	1	314	0.0032	c.302 others(4): Show c.3022T>C	p.Ser others(7): Show p.Ser1008Pro	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	20/20	3658/6340	3022/3270	1008/1089	chr7	TogoVar
ANKIB1_chr7_92240974_92406383	92398719	G G	A A	missense_variant missense_variant	MODERATE	NA18940.hp2 NA18964.hp1 NA19003.hp2 NA18940.hp2 NA18964.hp1 NA19003.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0118 a0004c0008t0001g0119 a0004c0008t0001g0120 a0004c0008t0001g0118 a0004c0008t0001g0119 a0004c0008t0001g0120	3	314	0.0096	c.304 others(4): Show c.3040G>A	p.Val others(7): Show p.Val1014Met	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	20/20	3676/6340	3040/3270	1014/1089	chr7	TogoVar
ANKIB1_chr7_92240974_92406383	92398725	C C	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(115): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03239.hp1 HG03492.hp1 HG03669.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18961.hp1 NA18964.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp1 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19080.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0001 a0002c0007 a0004c0008 others(1): Show a0002c0001 a0002c0007 a0004c0008 a0005c0011	a0002c0001t0001 a0002c0001t0004 a0002c0001t0008 others(5): Show a0002c0001t0001 a0002c0001t0004 a0002c0001t0008 a0002c0001t0016 a0002c0001t0018 a0002c0007t0001 a0004c0008t0001 a0005c0011t0009	a0002c0001t0001g0009 a0002c0001t0001g0010 a0002c0001t0001g0011 others(115): Show a0002c0001t0001g0009 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0012 a0002c0001t0001g0037 a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0001t0001g0040 a0002c0001t0001g0041 a0002c0001t0001g0043 a0002c0001t0001g0044 a0002c0001t0001g0046 a0002c0001t0001g0047 a0002c0001t0001g0049 a0002c0001t0001g0050 a0002c0001t0001g0051 a0002c0001t0001g0052 a0002c0001t0001g0053 a0002c0001t0001g0054 a0002c0001t0001g0055 a0002c0001t0001g0058 a0002c0001t0001g0059 a0002c0001t0001g0060 a0002c0001t0001g0061 a0002c0001t0001g0062 a0002c0001t0001g0064 a0002c0001t0001g0066 a0002c0001t0001g0067 a0002c0001t0001g0068 a0002c0001t0001g0069 a0002c0001t0001g0070 a0002c0001t0001g0071 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0079 a0002c0001t0001g0080 a0002c0001t0001g0081 a0002c0001t0001g0083 a0002c0001t0001g0084 a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0089 a0002c0001t0001g0090 a0002c0001t0001g0092 a0002c0001t0001g0093 a0002c0001t0001g0094 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0097 a0002c0001t0001g0098 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0103 a0002c0001t0001g0104 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0108 a0002c0001t0001g0109 a0002c0001t0001g0110 a0002c0001t0001g0111 a0002c0001t0001g0115 a0002c0001t0001g0116 a0002c0001t0001g0117 a0002c0001t0001g0122 a0002c0001t0001g0123 a0002c0001t0001g0124 a0002c0001t0001g0125 a0002c0001t0001g0126 a0002c0001t0001g0134 a0002c0001t0001g0135 a0002c0001t0001g0136 a0002c0001t0001g0138 a0002c0001t0001g0143 a0002c0001t0001g0152 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0155 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0173 a0002c0001t0001g0236 a0002c0001t0001g0313 a0002c0001t0001g0314 a0002c0001t0004g0121 a0002c0001t0004g0141 a0002c0001t0004g0142 a0002c0001t0004g0144 a0002c0001t0004g0145 a0002c0001t0004g0146 a0002c0001t0004g0147 a0002c0001t0004g0148 a0002c0001t0004g0149 a0002c0001t0004g0150 a0002c0001t0004g0151 a0002c0001t0008g0112 a0002c0001t0008g0113 a0002c0001t0008g0137 a0002c0001t0008g0312 a0002c0001t0016g0065 a0002c0001t0018g0013 a0002c0007t0001g0056 a0002c0007t0001g0057 a0002c0007t0001g0082 a0002c0007t0001g0167 a0004c0008t0001g0118 a0004c0008t0001g0119 a0004c0008t0001g0120 a0005c0011t0009g0114	118	314	0.3758	c.304 others(4): Show c.3046C>A	p.Leu others(7): Show p.Leu1016Met	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	20/20	3682/6340	3046/3270	1016/1089	chr7	TogoVar
ANKK1_chr11_113382779_113405416	113388040	C C	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02647.hp1 HG02723.hp1 others(3): Show HG02257.hp1 HG02647.hp1 HG02723.hp1 HG02922.hp1 NA19043.hp2 NA19240.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0023 a0008c0009t0001g0079 a0008c0009t0001g0082 others(1): Show a0008c0009t0001g0023 a0008c0009t0001g0079 a0008c0009t0001g0082 a0008c0009t0001g0083	6	400	0.0150	c.156 others(3): Show c.156C>G	p.Cys others(5): Show p.Cys52Trp	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	1/8	262/2553	156/2298	52/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113393699	A A	C C	missense_variant missense_variant	MODERATE	HG01516.hp2 HG01517.hp2 HG02738.hp1 HG01516.hp2 HG01517.hp2 HG02738.hp1	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0028 a0014c0016t0001g0074 a0014c0016t0001g0028 a0014c0016t0001g0074	3	400	0.0075	c.404 others(3): Show c.404A>C	p.His others(6): Show p.His135Pro	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	2/8	510/2553	404/2298	135/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113395002	G G	A A	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02559.hp1 HG02630.hp2 others(7): Show HG02280.hp1 HG02559.hp1 HG02630.hp2 HG02895.hp1 HG03041.hp1 HG03130.hp2 HG03209.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp1	a0005 a0015 a0005 a0015	a0005c0006 a0015c0022 a0005c0006 a0015c0022	a0005c0006t0001 a0015c0022t0001 a0005c0006t0001 a0015c0022t0001	a0005c0006t0001g0013 a0005c0006t0001g0019 a0005c0006t0001g0025 others(1): Show a0005c0006t0001g0013 a0005c0006t0001g0019 a0005c0006t0001g0025 a0015c0022t0001g0013	10	400	0.0250	c.554 others(3): Show c.554G>A	p.Arg others(6): Show p.Arg185Gln	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	3/8	660/2553	554/2298	185/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113396069	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00408.hp1 HG00408.hp1	a0028 a0028	a0028c0029 a0028c0029	a0028c0029t0001 a0028c0029t0001	a0028c0029t0001g0057 a0028c0029t0001g0057	1	400	0.0025	c.685 others(3): Show c.685T>A	p.Phe others(6): Show p.Phe229Ile	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	5/8	791/2553	685/2298	229/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113396072	A A	C C	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp1	a0028 a0028	a0028c0029 a0028c0029	a0028c0029t0001 a0028c0029t0001	a0028c0029t0001g0057 a0028c0029t0001g0057	1	400	0.0025	c.688 others(3): Show c.688A>C	p.Asn others(6): Show p.Asn230His	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	5/8	794/2553	688/2298	230/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113396074	C C	G G	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp1	a0028 a0028	a0028c0029 a0028c0029	a0028c0029t0001 a0028c0029t0001	a0028c0029t0001g0057 a0028c0029t0001g0057	1	400	0.0025	c.690 others(3): Show c.690C>G	p.Asn others(6): Show p.Asn230Lys	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	5/8	796/2553	690/2298	230/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113396076	T T	C C	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp1	a0028 a0028	a0028c0029 a0028c0029	a0028c0029t0001 a0028c0029t0001	a0028c0029t0001g0057 a0028c0029t0001g0057	1	400	0.0025	c.692 others(3): Show c.692T>C	p.Met others(6): Show p.Met231Thr	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	5/8	798/2553	692/2298	231/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113396077	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp1	a0028 a0028	a0028c0029 a0028c0029	a0028c0029t0001 a0028c0029t0001	a0028c0029t0001g0057 a0028c0029t0001g0057	1	400	0.0025	c.693 others(3): Show c.693G>A	p.Met others(6): Show p.Met231Ile	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	5/8	799/2553	693/2298	231/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113396086	T T	G G	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp1	a0028 a0028	a0028c0029 a0028c0029	a0028c0029t0001 a0028c0029t0001	a0028c0029t0001g0057 a0028c0029t0001g0057	1	400	0.0025	c.702 others(3): Show c.702T>G	p.Ile others(6): Show p.Ile234Met	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	5/8	808/2553	702/2298	234/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113396091	T T	C C	missense_variant missense_variant	MODERATE	NA19060.hp2 NA19060.hp2	a0027 a0027	a0027c0030 a0027c0030	a0027c0030t0001 a0027c0030t0001	a0027c0030t0001g0001 a0027c0030t0001g0001	1	400	0.0025	c.707 others(3): Show c.707T>C	p.Ile others(6): Show p.Ile236Thr	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	5/8	813/2553	707/2298	236/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113396097	T T	G G	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp1	a0028 a0028	a0028c0029 a0028c0029	a0028c0029t0001 a0028c0029t0001	a0028c0029t0001g0057 a0028c0029t0001g0057	1	400	0.0025	c.713 others(3): Show c.713T>G	p.Val others(6): Show p.Val238Gly	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	5/8	819/2553	713/2298	238/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113396099	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00423.hp1 HG00544.hp1 others(124): Show HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01891.hp2 HG01978.hp1 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03927.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19006.hp1 NA19011.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp2 NA21309.hp1	a0002 a0004 a0005 others(11): Show a0002 a0004 a0005 a0006 a0007 a0012 a0015 a0019 a0023 a0024 a0025 a0026 a0027 a0028	a0002c0002 a0002c0012 a0002c0024 others(15): Show a0002c0002 a0002c0012 a0002c0024 a0002c0032 a0004c0005 a0005c0006 a0006c0008 a0006c0031 a0007c0007 a0012c0015 a0015c0022 a0019c0023 a0023c0036 a0024c0038 a0025c0037 a0026c0026 a0027c0030 a0028c0029	a0002c0002t0001 a0002c0012t0001 a0002c0024t0001 others(15): Show a0002c0002t0001 a0002c0012t0001 a0002c0024t0001 a0002c0032t0001 a0004c0005t0001 a0005c0006t0001 a0006c0008t0001 a0006c0031t0002 a0007c0007t0001 a0012c0015t0001 a0015c0022t0001 a0019c0023t0001 a0023c0036t0001 a0024c0038t0001 a0025c0037t0001 a0026c0026t0001 a0027c0030t0001 a0028c0029t0001	a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0020 others(32): Show a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0020 a0002c0002t0001g0027 a0002c0002t0001g0059 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0012t0001g0018 a0002c0012t0001g0091 a0002c0024t0001g0001 a0002c0032t0001g0001 a0004c0005t0001g0007 a0005c0006t0001g0013 a0005c0006t0001g0019 a0005c0006t0001g0025 a0006c0008t0001g0015 a0006c0008t0001g0042 a0006c0008t0001g0098 a0006c0031t0002g0063 a0007c0007t0001g0001 a0012c0015t0001g0035 a0012c0015t0001g0036 a0015c0022t0001g0013 a0019c0023t0001g0040 a0023c0036t0001g0015 a0024c0038t0001g0085 a0025c0037t0001g0073 a0026c0026t0001g0058 a0027c0030t0001g0001 a0028c0029t0001g0057	127	400	0.3175	c.715 others(3): Show c.715G>A	p.Ala others(6): Show p.Ala239Thr	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	5/8	821/2553	715/2298	239/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113396100	C C	T T	missense_variant missense_variant	MODERATE	HG01243.hp1 HG02258.hp1 HG02622.hp2 others(6): Show HG01243.hp1 HG02258.hp1 HG02622.hp2 HG02630.hp1 HG02896.hp2 HG02897.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0007 a0004c0005t0001g0007	9	400	0.0225	c.716 others(3): Show c.716C>T	p.Ala others(6): Show p.Ala239Val	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	5/8	822/2553	716/2298	239/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113396141	T T	C C	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0020 a0020	a0020c0033 a0020c0033	a0020c0033t0002 a0020c0033t0002	a0020c0033t0002g0004 a0020c0033t0002g0004	1	400	0.0025	c.757 others(3): Show c.757T>C	p.Trp others(6): Show p.Trp253Arg	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	5/8	863/2553	757/2298	253/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113396208	G G	A A	missense_variant missense_variant	MODERATE	NA18939.hp1 NA18962.hp1 NA18963.hp2 others(4): Show NA18939.hp1 NA18962.hp1 NA18963.hp2 NA18967.hp1 NA19060.hp2 NA19063.hp2 NA19068.hp1	a0007 a0027 a0007 a0027	a0007c0007 a0027c0030 a0007c0007 a0027c0030	a0007c0007t0001 a0027c0030t0001 a0007c0007t0001 a0027c0030t0001	a0007c0007t0001g0001 a0027c0030t0001g0001 a0007c0007t0001g0001 a0027c0030t0001g0001	7	400	0.0175	c.824 others(3): Show c.824G>A	p.Arg others(6): Show p.Arg275Lys	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	5/8	930/2553	824/2298	275/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113396211	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02486.hp2 HG03209.hp1 HG01884.hp1 HG02486.hp2 HG03209.hp1	a0016 a0021 a0016 a0021	a0016c0021 a0021c0035 a0016c0021 a0021c0035	a0016c0021t0002 a0021c0035t0002 a0016c0021t0002 a0021c0035t0002	a0016c0021t0002g0004 a0021c0035t0002g0004 a0016c0021t0002g0004 a0021c0035t0002g0004	3	400	0.0075	c.827 others(3): Show c.827C>T	p.Pro others(6): Show p.Pro276Leu	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	5/8	933/2553	827/2298	276/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113397328	C C	T T	missense_variant missense_variant	MODERATE	HG02280.hp1 HG03471.hp2 HG02280.hp1 HG03471.hp2	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0001 a0015c0022t0001	a0015c0022t0001g0013 a0015c0022t0001g0013	2	400	0.0050	c.943 others(3): Show c.943C>T	p.Arg others(6): Show p.Arg315Cys	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	6/8	1049/2553	943/2298	315/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113397329	G G	A A	missense_variant missense_variant	MODERATE	HG02886.hp2 HG02886.hp2	a0023 a0023	a0023c0036 a0023c0036	a0023c0036t0001 a0023c0036t0001	a0023c0036t0001g0015 a0023c0036t0001g0015	1	400	0.0025	c.944 others(3): Show c.944G>A	p.Arg others(6): Show p.Arg315His	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	6/8	1050/2553	944/2298	315/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113397337	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00639.hp2 HG00642.hp2 others(70): Show HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02109.hp2 HG02451.hp1 HG02738.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 NA18939.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA19000.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19055.hp2 NA19057.hp1 NA19074.hp1 NA19079.hp1 NA19083.hp2 NA19086.hp1 NA19087.hp2 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0003 a0011 a0014 others(2): Show a0003 a0011 a0014 a0018 a0022	a0003c0003 a0003c0025 a0003c0034 others(4): Show a0003c0003 a0003c0025 a0003c0034 a0011c0013 a0014c0016 a0018c0018 a0022c0027	a0003c0003t0001 a0003c0025t0001 a0003c0034t0001 others(4): Show a0003c0003t0001 a0003c0025t0001 a0003c0034t0001 a0011c0013t0001 a0014c0016t0001 a0018c0018t0001 a0022c0027t0001	a0003c0003t0001g0003 a0003c0003t0001g0010 a0003c0003t0001g0012 others(19): Show a0003c0003t0001g0003 a0003c0003t0001g0010 a0003c0003t0001g0012 a0003c0003t0001g0017 a0003c0003t0001g0026 a0003c0003t0001g0039 a0003c0003t0001g0043 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0025t0001g0050 a0003c0034t0001g0060 a0011c0013t0001g0003 a0014c0016t0001g0028 a0014c0016t0001g0074 a0018c0018t0001g0053 a0018c0018t0001g0054 a0022c0027t0001g0044	73	400	0.1825	c.952 others(3): Show c.952G>A	p.Gly others(6): Show p.Gly318Arg	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	6/8	1058/2553	952/2298	318/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113399070	C C	A A	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02109.hp2	a0022 a0022	a0022c0027 a0022c0027	a0022c0027t0001 a0022c0027t0001	a0022c0027t0001g0044 a0022c0027t0001g0044	1	400	0.0025	c.110 others(4): Show c.1101C>A	p.His others(6): Show p.His367Gln	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	8/8	1207/2553	1101/2298	367/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113399293	G G	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00408.hp1 HG00423.hp1 others(196): Show HG00140.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19006.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(15): Show a0002 a0003 a0004 a0005 a0007 a0009 a0011 a0012 a0013 a0014 a0015 a0018 a0019 a0022 a0025 a0026 a0027 a0028	a0002c0002 a0002c0012 a0002c0024 others(20): Show a0002c0002 a0002c0012 a0002c0024 a0002c0032 a0003c0003 a0003c0025 a0003c0034 a0004c0005 a0005c0006 a0007c0007 a0009c0011 a0011c0013 a0012c0015 a0013c0017 a0014c0016 a0015c0022 a0018c0018 a0019c0023 a0022c0027 a0025c0037 a0026c0026 a0027c0030 a0028c0029	a0002c0002t0001 a0002c0012t0001 a0002c0024t0001 others(20): Show a0002c0002t0001 a0002c0012t0001 a0002c0024t0001 a0002c0032t0001 a0003c0003t0001 a0003c0025t0001 a0003c0034t0001 a0004c0005t0001 a0005c0006t0001 a0007c0007t0001 a0009c0011t0001 a0011c0013t0001 a0012c0015t0001 a0013c0017t0001 a0014c0016t0001 a0015c0022t0001 a0018c0018t0001 a0019c0023t0001 a0022c0027t0001 a0025c0037t0001 a0026c0026t0001 a0027c0030t0001 a0028c0029t0001	a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0020 others(51): Show a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0020 a0002c0002t0001g0027 a0002c0002t0001g0059 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0012t0001g0018 a0002c0012t0001g0091 a0002c0024t0001g0001 a0002c0032t0001g0001 a0003c0003t0001g0003 a0003c0003t0001g0010 a0003c0003t0001g0012 a0003c0003t0001g0017 a0003c0003t0001g0026 a0003c0003t0001g0039 a0003c0003t0001g0043 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0025t0001g0050 a0003c0034t0001g0060 a0004c0005t0001g0007 a0005c0006t0001g0013 a0005c0006t0001g0019 a0005c0006t0001g0025 a0007c0007t0001g0001 a0009c0011t0001g0014 a0011c0013t0001g0003 a0012c0015t0001g0035 a0012c0015t0001g0036 a0013c0017t0001g0029 a0013c0017t0001g0078 a0014c0016t0001g0028 a0014c0016t0001g0074 a0015c0022t0001g0013 a0018c0018t0001g0053 a0018c0018t0001g0054 a0019c0023t0001g0040 a0022c0027t0001g0044 a0025c0037t0001g0073 a0026c0026t0001g0058 a0027c0030t0001g0001 a0028c0029t0001g0057	199	400	0.4975	c.132 others(4): Show c.1324G>C	p.Gly others(6): Show p.Gly442Arg	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	8/8	1430/2553	1324/2298	442/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113399293	G G	T T	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0024 a0024	a0024c0038 a0024c0038	a0024c0038t0001 a0024c0038t0001	a0024c0038t0001g0085 a0024c0038t0001g0085	1	400	0.0025	c.132 others(4): Show c.1324G>T	p.Gly others(6): Show p.Gly442Cys	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	8/8	1430/2553	1324/2298	442/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113399302	C C	T T	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02647.hp1 HG02723.hp1 others(3): Show HG02257.hp1 HG02647.hp1 HG02723.hp1 HG02922.hp1 NA19043.hp2 NA19240.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0023 a0008c0009t0001g0079 a0008c0009t0001g0082 others(1): Show a0008c0009t0001g0023 a0008c0009t0001g0079 a0008c0009t0001g0082 a0008c0009t0001g0083	6	400	0.0150	c.133 others(4): Show c.1333C>T	p.Arg others(6): Show p.Arg445Cys	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	8/8	1439/2553	1333/2298	445/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113399320	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG01069.hp1 HG01071.hp1 others(1): Show HG00140.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0003 a0011c0013t0001g0003	4	400	0.0100	c.135 others(4): Show c.1351G>A	p.Gly others(6): Show p.Gly451Arg	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	8/8	1457/2553	1351/2298	451/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113399342	A A	G G	missense_variant missense_variant	MODERATE	HG02486.hp2 HG03209.hp1 HG02486.hp2 HG03209.hp1	a0016 a0016	a0016c0021 a0016c0021	a0016c0021t0002 a0016c0021t0002	a0016c0021t0002g0004 a0016c0021t0002g0004	2	400	0.0050	c.137 others(4): Show c.1373A>G	p.Glu others(6): Show p.Glu458Gly	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	8/8	1479/2553	1373/2298	458/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113399402	G G	A A	missense_variant missense_variant	MODERATE	HG03654.hp1 HG03654.hp1	a0025 a0025	a0025c0037 a0025c0037	a0025c0037t0001 a0025c0037t0001	a0025c0037t0001g0073 a0025c0037t0001g0073	1	400	0.0025	c.143 others(4): Show c.1433G>A	p.Arg others(6): Show p.Arg478Gln	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	8/8	1539/2553	1433/2298	478/765	chr11	TogoVar

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