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
ANGPTL5_chr11_101885674_101921522	101891453	G G	A A	synonymous_variant synonymous_variant	LOW	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0301 a0001c0011t0001g0301	1	422	0.0024	c.993 others(3): Show c.993C>T	p.Thr others(6): Show p.Thr331Thr	ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding	9/9	1589/2368	993/1167	331/388	chr11	TogoVar
ANGPTL6_chr19_10087338_10107678	10093554	G G	A A	synonymous_variant synonymous_variant	LOW	HG01106.hp2 HG01975.hp2 HG02080.hp1 others(4): Show HG01106.hp2 HG01975.hp2 HG02080.hp1 HG02683.hp1 HG03654.hp1 HG03654.hp2 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0040 a0001c0003t0001g0179 others(1): Show a0001c0003t0001g0028 a0001c0003t0001g0040 a0001c0003t0001g0179 a0001c0003t0001g0180	7	462	0.0152	c.101 others(4): Show c.1017C>T	p.Ser others(6): Show p.Ser339Ser	ANGPTL6	ENSG00000130812.11	transcript	ENST00000253109.5	protein_coding	5/6	1138/1785	1017/1413	339/470	chr19	TogoVar
ANGPTL6_chr19_10087338_10107678	10094777	C C	T T	synonymous_variant synonymous_variant	LOW	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0127 a0001c0008t0001g0127	1	462	0.0022	c.744 others(3): Show c.744G>A	p.Ala others(6): Show p.Ala248Ala	ANGPTL6	ENSG00000130812.11	transcript	ENST00000253109.5	protein_coding	3/6	865/1785	744/1413	248/470	chr19	TogoVar
ANGPTL6_chr19_10087338_10107678	10096372	C C	T T	synonymous_variant synonymous_variant	LOW	HG01106.hp2 HG01975.hp2 HG02080.hp1 others(4): Show HG01106.hp2 HG01975.hp2 HG02080.hp1 HG02683.hp1 HG03654.hp1 HG03654.hp2 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0040 a0001c0003t0001g0179 others(1): Show a0001c0003t0001g0028 a0001c0003t0001g0040 a0001c0003t0001g0179 a0001c0003t0001g0180	7	462	0.0152	c.192 others(3): Show c.192G>A	p.Ala others(5): Show p.Ala64Ala	ANGPTL6	ENSG00000130812.11	transcript	ENST00000253109.5	protein_coding	2/6	313/1785	192/1413	64/470	chr19	TogoVar
ANGPTL7_chr1_11184355_11200981	11193588	T T	C C	synonymous_variant synonymous_variant	LOW	HG03098.hp1 NA18522.hp2 NA18906.hp2 others(1): Show HG03098.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0002 a0001c0004t0002g0002	4	364	0.0110	c.486 others(3): Show c.486T>C	p.Cys others(6): Show p.Cys162Cys	ANGPTL7	ENSG00000171819.5	transcript	ENST00000376819.4	protein_coding	3/5	711/2224	486/1041	162/346	chr1	TogoVar
ANGPTL7_chr1_11184355_11200981	11193717	G G	A A	synonymous_variant synonymous_variant	LOW	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0006 a0001c0006t0001g0006	1	364	0.0028	c.615 others(3): Show c.615G>A	p.Gly others(6): Show p.Gly205Gly	ANGPTL7	ENSG00000171819.5	transcript	ENST00000376819.4	protein_coding	3/5	840/2224	615/1041	205/346	chr1	TogoVar
ANGPTL7_chr1_11184355_11200981	11194951	T T	C C	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG00280.hp2 HG00438.hp2 others(42): Show HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00673.hp1 HG01099.hp2 HG01109.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02135.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03491.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04228.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp1 NA18950.hp2 NA18972.hp1 NA18984.hp1 NA18988.hp2 NA18991.hp1 NA18993.hp1 NA19075.hp2 NA19085.hp1 NA19240.hp1 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0001c0004 a0001c0008 others(2): Show a0001c0002 a0001c0004 a0001c0008 a0003c0005 a0005c0007	a0001c0002t0002 a0001c0002t0012 a0001c0004t0002 others(3): Show a0001c0002t0002 a0001c0002t0012 a0001c0004t0002 a0001c0008t0011 a0003c0005t0002 a0005c0007t0002	a0001c0002t0002g0002 a0001c0002t0002g0037 a0001c0002t0002g0038 others(7): Show a0001c0002t0002g0002 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0042 a0001c0002t0012g0022 a0001c0004t0002g0002 a0001c0008t0011g0030 a0003c0005t0002g0002 a0005c0007t0002g0002	45	364	0.1236	c.969 others(3): Show c.969T>C	p.Tyr others(6): Show p.Tyr323Tyr	ANGPTL7	ENSG00000171819.5	transcript	ENST00000376819.4	protein_coding	5/5	1194/2224	969/1041	323/346	chr1	TogoVar
ANGPTL7_chr1_11184355_11200981	11194969	C C	T T	synonymous_variant synonymous_variant	LOW	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0011 a0001c0008t0011	a0001c0008t0011g0030 a0001c0008t0011g0030	1	364	0.0028	c.987 others(3): Show c.987C>T	p.Thr others(6): Show p.Thr329Thr	ANGPTL7	ENSG00000171819.5	transcript	ENST00000376819.4	protein_coding	5/5	1212/2224	987/1041	329/346	chr1	TogoVar
ANGPTL8_chr19_11234619_11246943	11239664	C C	G G	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00323.hp1 HG00408.hp2 others(171): Show HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0007 a0008 a0009 a0010	a0001c0003 a0002c0002 a0002c0009 others(7): Show a0001c0003 a0002c0002 a0002c0009 a0002c0013 a0003c0004 a0006c0012 a0007c0008 a0008c0011 a0009c0010 a0010c0005	a0001c0003t0001 a0001c0003t0004 a0002c0002t0001 others(8): Show a0001c0003t0001 a0001c0003t0004 a0002c0002t0001 a0002c0009t0001 a0002c0013t0001 a0003c0004t0001 a0006c0012t0001 a0007c0008t0001 a0008c0011t0001 a0009c0010t0001 a0010c0005t0001	a0001c0003t0001g0001 a0001c0003t0001g0003 a0001c0003t0001g0004 others(21): Show a0001c0003t0001g0001 a0001c0003t0001g0003 a0001c0003t0001g0004 a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0014 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0004g0001 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0016 a0002c0009t0001g0001 a0002c0013t0001g0001 a0003c0004t0001g0003 a0006c0012t0001g0004 a0007c0008t0001g0015 a0008c0011t0001g0001 a0009c0010t0001g0004 a0010c0005t0001g0017	174	426	0.4085	c.27C others(2): Show c.27C>G	p.Leu others(4): Show p.Leu9Leu	ANGPTL8	ENSG00000130173.14	transcript	ENST00000252453.12	protein_coding	1/4	46/872	27/597	9/198	chr19	TogoVar
ANGPTL8_chr19_11234619_11246943	11239757	T T	C C	synonymous_variant synonymous_variant	LOW	HG00408.hp2 HG02809.hp1 HG02895.hp2 others(7): Show HG00408.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03579.hp1 NA18522.hp1	a0003 a0007 a0010 a0003 a0007 a0010	a0003c0004 a0007c0008 a0010c0005 a0003c0004 a0007c0008 a0010c0005	a0003c0004t0001 a0007c0008t0001 a0010c0005t0001 a0003c0004t0001 a0007c0008t0001 a0010c0005t0001	a0003c0004t0001g0003 a0007c0008t0001g0015 a0010c0005t0001g0017 a0003c0004t0001g0003 a0007c0008t0001g0015 a0010c0005t0001g0017	10	426	0.0235	c.120 others(3): Show c.120T>C	p.His others(5): Show p.His40His	ANGPTL8	ENSG00000130173.14	transcript	ENST00000252453.12	protein_coding	1/4	139/872	120/597	40/198	chr19	TogoVar
ANGPTL8_chr19_11234619_11246943	11239763	C C	A A	synonymous_variant synonymous_variant	LOW	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0001 a0002c0009t0001g0001	1	426	0.0024	c.126 others(3): Show c.126C>A	p.Thr others(5): Show p.Thr42Thr	ANGPTL8	ENSG00000130173.14	transcript	ENST00000252453.12	protein_coding	1/4	145/872	126/597	42/198	chr19	TogoVar
ANGPTL8_chr19_11234619_11246943	11240254	C C	T T	synonymous_variant synonymous_variant	LOW	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0001 a0002c0013t0001g0001	1	426	0.0024	c.417 others(3): Show c.417C>T	p.Ser others(6): Show p.Ser139Ser	ANGPTL8	ENSG00000130173.14	transcript	ENST00000252453.12	protein_coding	2/4	436/872	417/597	139/198	chr19	TogoVar
ANG_chr14_20683764_20699183	20693894	T T	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(45): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp2 HG02735.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG04199.hp2 HG04204.hp2 NA18906.hp1 NA18945.hp1 NA19056.hp2 NA19063.hp2 NA19066.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0006 a0001c0002 a0001c0003 a0003c0006	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0003c0006t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(16): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0020 a0001c0002t0001g0031 a0001c0002t0001g0052 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0105 a0001c0002t0001g0113 a0001c0002t0001g0117 a0001c0002t0002g0100 a0001c0003t0001g0030 a0001c0003t0001g0043 a0001c0003t0001g0121 a0003c0006t0001g0058	48	472	0.1017	c.330 others(3): Show c.330T>G	p.Gly others(6): Show p.Gly110Gly	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	459/748	330/444	110/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693924	C C	A A	synonymous_variant synonymous_variant	LOW	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.360 others(3): Show c.360C>A	p.Ala others(6): Show p.Ala120Ala	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	489/748	360/444	120/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693927	A A	T T	synonymous_variant synonymous_variant	LOW	HG00741.hp1 HG00741.hp2 HG01884.hp1 others(4): Show HG00741.hp1 HG00741.hp2 HG01884.hp1 HG01934.hp2 HG02818.hp1 HG03579.hp1 HG03579.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0005 a0001c0003 a0004c0005	a0001c0003t0001 a0004c0005t0001 a0001c0003t0001 a0004c0005t0001	a0001c0003t0001g0030 a0001c0003t0001g0043 a0001c0003t0001g0121 others(1): Show a0001c0003t0001g0030 a0001c0003t0001g0043 a0001c0003t0001g0121 a0004c0005t0001g0008	7	472	0.0148	c.363 others(3): Show c.363A>T	p.Thr others(6): Show p.Thr121Thr	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	492/748	363/444	121/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693930	G G	A A	synonymous_variant synonymous_variant	LOW	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.366 others(3): Show c.366G>A	p.Ala others(6): Show p.Ala122Ala	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	495/748	366/444	122/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693933	G G	A A	synonymous_variant synonymous_variant	LOW	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.369 others(3): Show c.369G>A	p.Gly others(6): Show p.Gly123Gly	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	498/748	369/444	123/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693945	T T	A A	synonymous_variant synonymous_variant	LOW	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.381 others(3): Show c.381T>A	p.Val others(6): Show p.Val127Val	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	510/748	381/444	127/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693948	T T	A A	synonymous_variant synonymous_variant	LOW	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.384 others(3): Show c.384T>A	p.Val others(6): Show p.Val128Val	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	513/748	384/444	128/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693951	T T	A A	synonymous_variant synonymous_variant	LOW	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.387 others(3): Show c.387T>A	p.Val others(6): Show p.Val129Val	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	516/748	387/444	129/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693954	T T	A A	synonymous_variant synonymous_variant	LOW	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.390 others(3): Show c.390T>A	p.Ala others(6): Show p.Ala130Ala	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	519/748	390/444	130/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693966	C C	A A	synonymous_variant synonymous_variant	LOW	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.402 others(3): Show c.402C>A	p.Gly others(6): Show p.Gly134Gly	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	531/748	402/444	134/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693978	C C	T T	synonymous_variant synonymous_variant	LOW	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.414 others(3): Show c.414C>T	p.His others(6): Show p.His138His	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	543/748	414/444	138/147	chr14	TogoVar
ANHX_chr12_133213312_133240877	133226398	G G	T T	synonymous_variant synonymous_variant	LOW	HG01891.hp1 HG02723.hp1 HG01891.hp1 HG02723.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0037 a0002c0008t0001g0037	2	442	0.0045	c.759 others(3): Show c.759C>A	p.Thr others(6): Show p.Thr253Thr	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	6/10	852/2118	759/1452	253/483	chr12	TogoVar
ANHX_chr12_133213312_133240877	133227857	C C	A A	synonymous_variant synonymous_variant	LOW	NA18951.hp2 NA19062.hp2 NA19063.hp1 others(1): Show NA18951.hp2 NA19062.hp2 NA19063.hp1 NA19086.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0306 a0002c0007t0003g0319 a0002c0007t0003g0320 others(1): Show a0002c0007t0003g0306 a0002c0007t0003g0319 a0002c0007t0003g0320 a0002c0007t0003g0321	4	442	0.0091	c.468 others(3): Show c.468G>T	p.Val others(6): Show p.Val156Val	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	4/10	561/2118	468/1452	156/483	chr12	TogoVar
ANHX_chr12_133213312_133240877	133227932	G G	T T	synonymous_variant synonymous_variant	LOW	NA18963.hp1 NA18977.hp1 NA18984.hp2 others(1): Show NA18963.hp1 NA18977.hp1 NA18984.hp2 NA18992.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0010 a0001c0006t0001 a0001c0006t0010	a0001c0006t0001g0151 a0001c0006t0001g0171 a0001c0006t0001g0172 others(1): Show a0001c0006t0001g0151 a0001c0006t0001g0171 a0001c0006t0001g0172 a0001c0006t0010g0166	4	442	0.0091	c.393 others(3): Show c.393C>A	p.Pro others(6): Show p.Pro131Pro	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	4/10	486/2118	393/1452	131/483	chr12	TogoVar
ANHX_chr12_133213312_133240877	133231543	C C	T T	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(40): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01243.hp2 HG01516.hp1 HG02080.hp1 HG02155.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp2 HG06807.hp1 NA18939.hp2 NA18946.hp1 NA18959.hp2 NA18971.hp2 NA18975.hp1 NA18987.hp1 NA18992.hp2 NA19004.hp1 NA19010.hp2 NA19055.hp2 NA19074.hp2 NA19082.hp2 NA19084.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0003 a0006c0010 a0007c0016 a0003c0003 a0006c0010 a0007c0016	a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 others(3): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0007 a0006c0010t0001 a0007c0016t0001	a0003c0003t0001g0010 a0003c0003t0001g0027 a0003c0003t0001g0031 others(35): Show a0003c0003t0001g0010 a0003c0003t0001g0027 a0003c0003t0001g0031 a0003c0003t0001g0071 a0003c0003t0001g0108 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0209 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0270 a0003c0003t0002g0122 a0003c0003t0004g0302 a0003c0003t0004g0303 a0003c0003t0007g0032 a0003c0003t0007g0070 a0006c0010t0001g0080 a0007c0016t0001g0109	43	442	0.0973	c.351 others(3): Show c.351G>A	p.Pro others(6): Show p.Pro117Pro	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	3/10	444/2118	351/1452	117/483	chr12	TogoVar
ANHX_chr12_133213312_133240877	133234117	G G	C C	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(40): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01243.hp2 HG01516.hp1 HG02080.hp1 HG02155.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp2 HG06807.hp1 NA18939.hp2 NA18946.hp1 NA18959.hp2 NA18971.hp2 NA18975.hp1 NA18987.hp1 NA18992.hp2 NA19004.hp1 NA19010.hp2 NA19055.hp2 NA19074.hp2 NA19082.hp2 NA19084.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0003 a0006c0010 a0007c0016 a0003c0003 a0006c0010 a0007c0016	a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 others(3): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0007 a0006c0010t0001 a0007c0016t0001	a0003c0003t0001g0010 a0003c0003t0001g0027 a0003c0003t0001g0031 others(35): Show a0003c0003t0001g0010 a0003c0003t0001g0027 a0003c0003t0001g0031 a0003c0003t0001g0071 a0003c0003t0001g0108 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0209 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0270 a0003c0003t0002g0122 a0003c0003t0004g0302 a0003c0003t0004g0303 a0003c0003t0007g0032 a0003c0003t0007g0070 a0006c0010t0001g0080 a0007c0016t0001g0109	43	442	0.0973	c.240 others(3): Show c.240C>G	p.Arg others(5): Show p.Arg80Arg	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	2/10	333/2118	240/1452	80/483	chr12	TogoVar
ANHX_chr12_133213312_133240877	133234165	C C	T T	synonymous_variant synonymous_variant	LOW	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0081 a0001c0011t0001g0081	1	442	0.0023	c.192 others(3): Show c.192G>A	p.Ala others(5): Show p.Ala64Ala	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	2/10	285/2118	192/1452	64/483	chr12	TogoVar
ANHX_chr12_133213312_133240877	133234294	C C	T T	synonymous_variant synonymous_variant	LOW	HG01109.hp2 HG01433.hp1 HG03098.hp1 others(1): Show HG01109.hp2 HG01433.hp1 HG03098.hp1 HG03453.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0047 a0005c0005t0001g0212 a0005c0005t0001g0213 a0005c0005t0001g0047 a0005c0005t0001g0212 a0005c0005t0001g0213	4	442	0.0091	c.63G others(2): Show c.63G>A	p.Leu others(5): Show p.Leu21Leu	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	2/10	156/2118	63/1452	21/483	chr12	TogoVar
ANK1_chr8_41648225_41802622	41668396	C C	T T	synonymous_variant synonymous_variant	LOW	HG00423.hp2 HG00639.hp2 HG00738.hp2 others(52): Show HG00423.hp2 HG00639.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01978.hp1 HG02080.hp2 HG02083.hp1 HG02258.hp1 HG02451.hp2 HG02602.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02886.hp2 HG02922.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 NA18612.hp1 NA18747.hp2 NA18950.hp1 NA18960.hp1 NA18967.hp2 NA18999.hp1 NA19007.hp2 NA19010.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19076.hp1 NA19084.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0014 others(2): Show a0001 a0002 a0014 a0015 a0016	a0001c0004 a0001c0009 a0001c0016 others(11): Show a0001c0004 a0001c0009 a0001c0016 a0001c0019 a0001c0025 a0001c0030 a0001c0038 a0001c0040 a0002c0007 a0002c0039 a0002c0042 a0014c0055 a0015c0053 a0016c0027	a0001c0004t0001 a0001c0004t0002 a0001c0004t0024 others(16): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0024 a0001c0009t0002 a0001c0016t0002 a0001c0019t0002 a0001c0025t0011 a0001c0030t0017 a0001c0038t0002 a0001c0040t0001 a0002c0007t0001 a0002c0007t0007 a0002c0007t0021 a0002c0007t0027 a0002c0039t0010 a0002c0042t0016 a0014c0055t0006 a0015c0053t0002 a0016c0027t0002	a0001c0004t0001g0109 a0001c0004t0001g0159 a0001c0004t0002g0066 others(51): Show a0001c0004t0001g0109 a0001c0004t0001g0159 a0001c0004t0002g0066 a0001c0004t0002g0070 a0001c0004t0002g0074 a0001c0004t0002g0126 a0001c0004t0002g0149 a0001c0004t0002g0154 a0001c0004t0002g0193 a0001c0004t0002g0195 a0001c0004t0002g0211 a0001c0004t0002g0212 a0001c0004t0002g0215 a0001c0004t0002g0219 a0001c0004t0002g0224 a0001c0004t0002g0243 a0001c0004t0002g0244 a0001c0004t0002g0247 a0001c0004t0002g0249 a0001c0004t0002g0251 a0001c0004t0002g0258 a0001c0004t0002g0259 a0001c0004t0002g0271 a0001c0004t0024g0210 a0001c0009t0002g0046 a0001c0009t0002g0047 a0001c0009t0002g0052 a0001c0009t0002g0059 a0001c0009t0002g0061 a0001c0009t0002g0069 a0001c0009t0002g0082 a0001c0016t0002g0006 a0001c0016t0002g0007 a0001c0016t0002g0008 a0001c0019t0002g0145 a0001c0019t0002g0164 a0001c0019t0002g0239 a0001c0025t0011g0001 a0001c0030t0017g0051 a0001c0038t0002g0200 a0001c0040t0001g0087 a0002c0007t0001g0038 a0002c0007t0001g0040 a0002c0007t0007g0021 a0002c0007t0007g0023 a0002c0007t0007g0025 a0002c0007t0007g0028 a0002c0007t0021g0118 a0002c0007t0027g0035 a0002c0039t0010g0018 a0002c0042t0016g0045 a0014c0055t0006g0012 a0015c0053t0002g0263 a0016c0027t0002g0054	55	278	0.1978	c.526 others(4): Show c.5265G>A	p.Val others(7): Show p.Val1755Val	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	39/43	5349/8292	5265/5643	1755/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41684575	G G	A A	synonymous_variant synonymous_variant	LOW	HG01123.hp2 HG01123.hp2	a0013 a0013	a0013c0041 a0013c0041	a0013c0041t0012 a0013c0041t0012	a0013c0041t0012g0174 a0013c0041t0012g0174	1	278	0.0036	c.450 others(4): Show c.4506C>T	p.Arg others(7): Show p.Arg1502Arg	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	37/43	4590/8292	4506/5643	1502/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41690230	G G	A A	synonymous_variant synonymous_variant	LOW	HG01106.hp2 HG01123.hp2 HG01167.hp1 others(55): Show HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01243.hp2 HG01891.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18950.hp2 NA18979.hp1 NA18980.hp1 NA19010.hp1 NA19012.hp2 NA19068.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0013 a0014	a0001c0006 a0001c0010 a0001c0013 others(18): Show a0001c0006 a0001c0010 a0001c0013 a0001c0017 a0001c0028 a0001c0040 a0001c0056 a0002c0007 a0002c0039 a0002c0042 a0002c0043 a0002c0057 a0003c0015 a0003c0049 a0004c0011 a0004c0020 a0004c0044 a0005c0021 a0007c0033 a0013c0041 a0014c0055	a0001c0006t0001 a0001c0006t0003 a0001c0006t0005 others(27): Show a0001c0006t0001 a0001c0006t0003 a0001c0006t0005 a0001c0006t0018 a0001c0010t0002 a0001c0010t0003 a0001c0013t0001 a0001c0013t0006 a0001c0017t0005 a0001c0028t0003 a0001c0040t0001 a0001c0056t0003 a0002c0007t0001 a0002c0007t0007 a0002c0007t0021 a0002c0007t0027 a0002c0039t0010 a0002c0042t0016 a0002c0043t0002 a0002c0057t0005 a0003c0015t0003 a0003c0049t0001 a0004c0011t0001 a0004c0011t0002 a0004c0020t0001 a0004c0044t0004 a0005c0021t0002 a0007c0033t0001 a0013c0041t0012 a0014c0055t0006	a0001c0006t0001g0017 a0001c0006t0001g0039 a0001c0006t0001g0100 others(55): Show a0001c0006t0001g0017 a0001c0006t0001g0039 a0001c0006t0001g0100 a0001c0006t0001g0264 a0001c0006t0001g0266 a0001c0006t0001g0267 a0001c0006t0001g0268 a0001c0006t0003g0005 a0001c0006t0003g0013 a0001c0006t0003g0014 a0001c0006t0005g0015 a0001c0006t0018g0117 a0001c0010t0002g0056 a0001c0010t0003g0002 a0001c0010t0003g0114 a0001c0010t0003g0189 a0001c0010t0003g0236 a0001c0010t0003g0270 a0001c0013t0001g0027 a0001c0013t0001g0037 a0001c0013t0006g0123 a0001c0013t0006g0124 a0001c0017t0005g0116 a0001c0017t0005g0119 a0001c0017t0005g0120 a0001c0028t0003g0053 a0001c0040t0001g0087 a0001c0056t0003g0026 a0002c0007t0001g0038 a0002c0007t0001g0040 a0002c0007t0007g0021 a0002c0007t0007g0023 a0002c0007t0007g0025 a0002c0007t0007g0028 a0002c0007t0021g0118 a0002c0007t0027g0035 a0002c0039t0010g0018 a0002c0042t0016g0045 a0002c0043t0002g0044 a0002c0057t0005g0269 a0003c0015t0003g0137 a0003c0015t0003g0220 a0003c0015t0003g0250 a0003c0049t0001g0104 a0004c0011t0001g0186 a0004c0011t0001g0187 a0004c0011t0002g0084 a0004c0011t0002g0096 a0004c0011t0002g0097 a0004c0020t0001g0033 a0004c0020t0001g0034 a0004c0020t0001g0036 a0004c0044t0004g0041 a0005c0021t0002g0115 a0005c0021t0002g0133 a0007c0033t0001g0108 a0013c0041t0012g0174 a0014c0055t0006g0012	58	278	0.2086	c.410 others(4): Show c.4101C>T	p.Ala others(7): Show p.Ala1367Ala	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	33/43	4185/8292	4101/5643	1367/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41690323	C C	T T	synonymous_variant synonymous_variant	LOW	HG00733.hp2 HG02004.hp2 HG00733.hp2 HG02004.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0231 a0001c0022t0002g0232 a0001c0022t0002g0231 a0001c0022t0002g0232	2	278	0.0072	c.400 others(4): Show c.4008G>A	p.Pro others(7): Show p.Pro1336Pro	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	33/43	4092/8292	4008/5643	1336/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41692693	C C	T T	synonymous_variant synonymous_variant	LOW	HG02717.hp1 HG02818.hp2 HG02976.hp2 HG02717.hp1 HG02818.hp2 HG02976.hp2	a0001 a0003 a0001 a0003	a0001c0037 a0003c0024 a0001c0037 a0003c0024	a0001c0037t0003 a0003c0024t0001 a0003c0024t0003 a0001c0037t0003 a0003c0024t0001 a0003c0024t0003	a0001c0037t0003g0233 a0003c0024t0001g0273 a0003c0024t0003g0102 a0001c0037t0003g0233 a0003c0024t0001g0273 a0003c0024t0003g0102	3	278	0.0108	c.381 others(4): Show c.3813G>A	p.Glu others(7): Show p.Glu1271Glu	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	31/43	3897/8292	3813/5643	1271/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41693944	G G	A A	synonymous_variant synonymous_variant	LOW	HG02559.hp1 HG02572.hp2 HG02630.hp2 others(12): Show HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02809.hp2 HG02895.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03471.hp2 NA18522.hp2 NA19240.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0013 a0003c0049 a0004c0011 others(3): Show a0001c0013 a0003c0049 a0004c0011 a0004c0020 a0004c0044 a0007c0033	a0001c0013t0001 a0001c0013t0006 a0003c0049t0001 others(5): Show a0001c0013t0001 a0001c0013t0006 a0003c0049t0001 a0004c0011t0001 a0004c0011t0002 a0004c0020t0001 a0004c0044t0004 a0007c0033t0001	a0001c0013t0001g0027 a0001c0013t0001g0037 a0001c0013t0006g0123 others(12): Show a0001c0013t0001g0027 a0001c0013t0001g0037 a0001c0013t0006g0123 a0001c0013t0006g0124 a0003c0049t0001g0104 a0004c0011t0001g0186 a0004c0011t0001g0187 a0004c0011t0002g0084 a0004c0011t0002g0096 a0004c0011t0002g0097 a0004c0020t0001g0033 a0004c0020t0001g0034 a0004c0020t0001g0036 a0004c0044t0004g0041 a0007c0033t0001g0108	15	278	0.0540	c.348 others(4): Show c.3486C>T	p.Ser others(7): Show p.Ser1162Ser	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	29/43	3570/8292	3486/5643	1162/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41695253	G G	A A	synonymous_variant synonymous_variant	LOW	NA19043.hp1 NA19043.hp1	a0012 a0012	a0012c0045 a0012c0045	a0012c0045t0025 a0012c0045t0025	a0012c0045t0025g0188 a0012c0045t0025g0188	1	278	0.0036	c.303 others(4): Show c.3039C>T	p.Asn others(7): Show p.Asn1013Asn	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	27/43	3123/8292	3039/5643	1013/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41695259	G G	A A	synonymous_variant synonymous_variant	LOW	HG01891.hp2 NA20300.hp1 HG01891.hp2 NA20300.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0275 a0001c0023t0001g0276 a0001c0023t0001g0275 a0001c0023t0001g0276	2	278	0.0072	c.303 others(4): Show c.3033C>T	p.Ser others(7): Show p.Ser1011Ser	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	27/43	3117/8292	3033/5643	1011/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41695322	G G	A A	synonymous_variant synonymous_variant	LOW	HG02572.hp1 HG03130.hp2 HG03579.hp1 HG02572.hp1 HG03130.hp2 HG03579.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0005 a0001c0017t0005	a0001c0017t0005g0116 a0001c0017t0005g0119 a0001c0017t0005g0120 a0001c0017t0005g0116 a0001c0017t0005g0119 a0001c0017t0005g0120	3	278	0.0108	c.297 others(4): Show c.2970C>T	p.Ile others(6): Show p.Ile990Ile	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	27/43	3054/8292	2970/5643	990/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41696410	C C	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(94): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18948.hp1 NA18948.hp2 NA18960.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18998.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19063.hp2 NA19076.hp2 NA19079.hp1 NA19084.hp1 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0010 a0011	a0001c0001 a0001c0003 a0001c0009 others(12): Show a0001c0001 a0001c0003 a0001c0009 a0001c0012 a0001c0022 a0001c0025 a0001c0030 a0001c0034 a0001c0037 a0001c0038 a0001c0052 a0002c0039 a0006c0031 a0010c0048 a0011c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0023 a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 a0001c0003t0014 a0001c0003t0019 a0001c0009t0002 a0001c0012t0001 a0001c0012t0005 a0001c0012t0006 a0001c0012t0015 a0001c0022t0002 a0001c0025t0011 a0001c0030t0017 a0001c0034t0002 a0001c0037t0003 a0001c0038t0002 a0001c0052t0001 a0002c0039t0010 a0006c0031t0002 a0010c0048t0001 a0011c0036t0002	a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0160 others(93): Show a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0191 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0262 a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0063 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0125 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0161 a0001c0001t0002g0171 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0002g0230 a0001c0001t0002g0234 a0001c0001t0002g0241 a0001c0001t0002g0254 a0001c0001t0002g0260 a0001c0001t0002g0272 a0001c0001t0013g0091 a0001c0001t0023g0081 a0001c0003t0001g0049 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0060 a0001c0003t0001g0062 a0001c0003t0001g0064 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0093 a0001c0003t0001g0136 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0158 a0001c0003t0001g0169 a0001c0003t0001g0177 a0001c0003t0001g0221 a0001c0003t0001g0237 a0001c0003t0001g0261 a0001c0003t0002g0067 a0001c0003t0002g0163 a0001c0003t0002g0199 a0001c0003t0009g0170 a0001c0003t0014g0065 a0001c0003t0019g0068 a0001c0009t0002g0046 a0001c0009t0002g0047 a0001c0009t0002g0052 a0001c0009t0002g0059 a0001c0009t0002g0061 a0001c0009t0002g0069 a0001c0009t0002g0082 a0001c0012t0001g0138 a0001c0012t0005g0103 a0001c0012t0006g0085 a0001c0012t0006g0099 a0001c0012t0015g0240 a0001c0022t0002g0231 a0001c0022t0002g0232 a0001c0025t0011g0001 a0001c0030t0017g0051 a0001c0034t0002g0157 a0001c0037t0003g0233 a0001c0038t0002g0200 a0001c0052t0001g0235 a0002c0039t0010g0018 a0006c0031t0002g0255 a0010c0048t0001g0182 a0011c0036t0002g0076	97	278	0.3489	c.291 others(4): Show c.2913G>C	p.Leu others(6): Show p.Leu971Leu	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	26/43	2997/8292	2913/5643	971/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41696563	G G	A A	synonymous_variant synonymous_variant	LOW	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0253 a0001c0029t0001g0253	1	278	0.0036	c.276 others(4): Show c.2760C>T	p.Asp others(6): Show p.Asp920Asp	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	26/43	2844/8292	2760/5643	920/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41698091	G G	A A	synonymous_variant synonymous_variant	LOW	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0030 a0001c0046t0030	a0001c0046t0030g0277 a0001c0046t0030g0277	1	278	0.0036	c.258 others(4): Show c.2589C>T	p.Pro others(6): Show p.Pro863Pro	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	24/43	2673/8292	2589/5643	863/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41701608	C C	T T	synonymous_variant synonymous_variant	LOW	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0008 a0001c0051t0008	a0001c0051t0008g0274 a0001c0051t0008g0274	1	278	0.0036	c.240 others(4): Show c.2403G>A	p.Lys others(6): Show p.Lys801Lys	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	22/43	2487/8292	2403/5643	801/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41702091	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(37): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00639.hp2 HG00738.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01255.hp1 HG01258.hp2 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG02040.hp2 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02735.hp1 HG03017.hp1 HG03239.hp2 HG03491.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04228.hp1 NA18969.hp1 NA18973.hp2 NA18981.hp2 NA18988.hp1 NA18998.hp2 NA19004.hp2 NA19043.hp2 NA19067.hp1 NA19091.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0010 a0001 a0010	a0001c0003 a0001c0009 a0001c0018 others(3): Show a0001c0003 a0001c0009 a0001c0018 a0001c0030 a0001c0052 a0010c0048	a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 others(8): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 a0001c0003t0014 a0001c0003t0019 a0001c0009t0002 a0001c0018t0001 a0001c0018t0026 a0001c0030t0017 a0001c0052t0001 a0010c0048t0001	a0001c0003t0001g0049 a0001c0003t0001g0057 a0001c0003t0001g0058 others(37): Show a0001c0003t0001g0049 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0060 a0001c0003t0001g0062 a0001c0003t0001g0064 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0093 a0001c0003t0001g0136 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0158 a0001c0003t0001g0169 a0001c0003t0001g0177 a0001c0003t0001g0221 a0001c0003t0001g0237 a0001c0003t0001g0261 a0001c0003t0002g0067 a0001c0003t0002g0163 a0001c0003t0002g0199 a0001c0003t0009g0170 a0001c0003t0014g0065 a0001c0003t0019g0068 a0001c0009t0002g0046 a0001c0009t0002g0047 a0001c0009t0002g0052 a0001c0009t0002g0059 a0001c0009t0002g0061 a0001c0009t0002g0069 a0001c0009t0002g0082 a0001c0018t0001g0147 a0001c0018t0001g0156 a0001c0018t0026g0113 a0001c0030t0017g0051 a0001c0052t0001g0235 a0010c0048t0001g0182	40	278	0.1439	c.234 others(4): Show c.2349C>T	p.Thr others(6): Show p.Thr783Thr	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	21/43	2433/8292	2349/5643	783/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41704125	G G	C C	synonymous_variant synonymous_variant	LOW	HG02071.hp2 HG02074.hp2 HG02080.hp1 others(8): Show HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02559.hp1 HG02809.hp2 HG03195.hp2 HG03471.hp2 NA18979.hp1 NA18980.hp1 NA19012.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0010 a0004c0011 a0001c0010 a0004c0011	a0001c0010t0002 a0001c0010t0003 a0004c0011t0001 others(1): Show a0001c0010t0002 a0001c0010t0003 a0004c0011t0001 a0004c0011t0002	a0001c0010t0002g0056 a0001c0010t0003g0002 a0001c0010t0003g0114 others(8): Show a0001c0010t0002g0056 a0001c0010t0003g0002 a0001c0010t0003g0114 a0001c0010t0003g0189 a0001c0010t0003g0236 a0001c0010t0003g0270 a0004c0011t0001g0186 a0004c0011t0001g0187 a0004c0011t0002g0084 a0004c0011t0002g0096 a0004c0011t0002g0097	11	278	0.0396	c.221 others(4): Show c.2211C>G	p.Pro others(6): Show p.Pro737Pro	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/43	2295/8292	2211/5643	737/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41706167	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(37): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00639.hp2 HG00738.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01255.hp1 HG01258.hp2 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG02040.hp2 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02735.hp1 HG03017.hp1 HG03239.hp2 HG03491.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04228.hp1 NA18969.hp1 NA18973.hp2 NA18981.hp2 NA18988.hp1 NA18998.hp2 NA19004.hp2 NA19043.hp2 NA19067.hp1 NA19091.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0010 a0001 a0010	a0001c0003 a0001c0009 a0001c0018 others(3): Show a0001c0003 a0001c0009 a0001c0018 a0001c0030 a0001c0052 a0010c0048	a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 others(8): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 a0001c0003t0014 a0001c0003t0019 a0001c0009t0002 a0001c0018t0001 a0001c0018t0026 a0001c0030t0017 a0001c0052t0001 a0010c0048t0001	a0001c0003t0001g0049 a0001c0003t0001g0057 a0001c0003t0001g0058 others(37): Show a0001c0003t0001g0049 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0060 a0001c0003t0001g0062 a0001c0003t0001g0064 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0093 a0001c0003t0001g0136 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0158 a0001c0003t0001g0169 a0001c0003t0001g0177 a0001c0003t0001g0221 a0001c0003t0001g0237 a0001c0003t0001g0261 a0001c0003t0002g0067 a0001c0003t0002g0163 a0001c0003t0002g0199 a0001c0003t0009g0170 a0001c0003t0014g0065 a0001c0003t0019g0068 a0001c0009t0002g0046 a0001c0009t0002g0047 a0001c0009t0002g0052 a0001c0009t0002g0059 a0001c0009t0002g0061 a0001c0009t0002g0069 a0001c0009t0002g0082 a0001c0018t0001g0147 a0001c0018t0001g0156 a0001c0018t0026g0113 a0001c0030t0017g0051 a0001c0052t0001g0235 a0010c0048t0001g0182	40	278	0.1439	c.207 others(4): Show c.2073C>T	p.Gly others(6): Show p.Gly691Gly	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	18/43	2157/8292	2073/5643	691/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41708808	C C	T T	synonymous_variant synonymous_variant	LOW	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0001 a0001c0054t0001	a0001c0054t0001g0131 a0001c0054t0001g0131	1	278	0.0036	c.196 others(4): Show c.1968G>A	p.Ser others(6): Show p.Ser656Ser	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	17/43	2052/8292	1968/5643	656/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41714174	G G	T T	synonymous_variant synonymous_variant	LOW	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0002 a0001c0034t0002	a0001c0034t0002g0157 a0001c0034t0002g0157	1	278	0.0036	c.178 others(4): Show c.1782C>A	p.Ser others(6): Show p.Ser594Ser	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	16/43	1866/8292	1782/5643	594/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41715787	C C	T T	synonymous_variant synonymous_variant	LOW	HG02895.hp1 HG02895.hp1	a0007 a0007	a0007c0033 a0007c0033	a0007c0033t0001 a0007c0033t0001	a0007c0033t0001g0108 a0007c0033t0001g0108	1	278	0.0036	c.146 others(4): Show c.1467G>A	p.Leu others(6): Show p.Leu489Leu	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	14/43	1551/8292	1467/5643	489/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41717037	C C	T T	synonymous_variant synonymous_variant	LOW	HG02970.hp2 HG02976.hp1 HG03098.hp1 others(2): Show HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03471.hp1 NA21309.hp2	a0001 a0001	a0001c0013 a0001c0032 a0001c0013 a0001c0032	a0001c0013t0001 a0001c0013t0006 a0001c0032t0003 a0001c0013t0001 a0001c0013t0006 a0001c0032t0003	a0001c0013t0001g0027 a0001c0013t0001g0037 a0001c0013t0006g0123 others(2): Show a0001c0013t0001g0027 a0001c0013t0001g0037 a0001c0013t0006g0123 a0001c0013t0006g0124 a0001c0032t0003g0105	5	278	0.0180	c.132 others(4): Show c.1320G>A	p.Pro others(6): Show p.Pro440Pro	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	13/43	1404/8292	1320/5643	440/1880	chr8	TogoVar

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