JoGo: Joint Open Genome and Omics Platform

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
AASS_chr7_122068549_122149249	122101666	C C	T T	synonymous_variant synonymous_variant	LOW	HG02622.hp2 HG03130.hp2 HG03471.hp2 HG02622.hp2 HG03130.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0063 a0001c0003t0010g0064 a0001c0003t0010g0065 a0001c0003t0010g0063 a0001c0003t0010g0064 a0001c0003t0010g0065	3	384	0.0078	c.129 others(4): Show c.1293G>A	p.Ala others(6): Show p.Ala431Ala	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	12/24	1397/5825	1293/2781	431/926	chr7	TogoVar
AASS_chr7_122068549_122149249	122115172	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0032 a0001c0014t0032	a0001c0014t0032g0142 a0001c0014t0032g0142	1	384	0.0026	c.945 others(3): Show c.945C>T	p.Asn others(6): Show p.Asn315Asn	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	9/24	1049/5825	945/2781	315/926	chr7	TogoVar
AASS_chr7_122068549_122149249	122129373	C C	T T	synonymous_variant synonymous_variant	LOW	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0028 a0001c0006t0028	a0001c0006t0028g0234 a0001c0006t0028g0234	1	384	0.0026	c.375 others(3): Show c.375G>A	p.Glu others(6): Show p.Glu125Glu	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	3/24	479/5825	375/2781	125/926	chr7	TogoVar
AATF_chr17_36943954_37061871	36988547	C C	T T	synonymous_variant synonymous_variant	LOW	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0164 a0001c0009t0001g0164	1	245	0.0041	c.976 others(3): Show c.976C>T	p.Leu others(6): Show p.Leu326Leu	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	6/12	1148/2062	976/1683	326/560	chr17	TogoVar
AATF_chr17_36943954_37061871	36989342	T T	C C	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG00280.hp1 HG00621.hp1 others(28): Show HG00140.hp2 HG00280.hp1 HG00621.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG02055.hp2 HG02155.hp2 HG02257.hp2 HG02572.hp1 HG02630.hp2 HG02738.hp1 HG03654.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18950.hp1 NA18983.hp1 NA18986.hp1 NA18989.hp1 NA18994.hp1 NA19056.hp1 NA19070.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009	a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0002g0109 others(28): Show a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0002g0109 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0133 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0152 a0001c0002t0002g0155 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0005g0117 a0001c0002t0005g0126 a0001c0002t0005g0132 a0001c0002t0005g0134 a0001c0002t0005g0139 a0001c0002t0009g0153	31	245	0.1265	c.124 others(4): Show c.1245T>C	p.Ser others(6): Show p.Ser415Ser	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	7/12	1417/2062	1245/1683	415/560	chr17	TogoVar
AATF_chr17_36943954_37061871	37019052	C C	T T	synonymous_variant synonymous_variant	LOW	HG02109.hp1 HG02135.hp2 HG02293.hp2 others(13): Show HG02109.hp1 HG02135.hp2 HG02293.hp2 HG02486.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG02965.hp2 HG03098.hp1 HG03209.hp1 HG03579.hp2 HG03834.hp1 HG06807.hp1 NA19068.hp1 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0003 a0002c0004 a0003c0007 others(1): Show a0001c0003 a0002c0004 a0003c0007 a0005c0008	a0001c0003t0001 a0001c0003t0004 a0002c0004t0001 others(2): Show a0001c0003t0001 a0001c0003t0004 a0002c0004t0001 a0003c0007t0001 a0005c0008t0001	a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0080 others(13): Show a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0080 a0001c0003t0001g0091 a0001c0003t0004g0037 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0047 a0002c0004t0001g0097 a0002c0004t0001g0098 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0001g0102 a0003c0007t0001g0094 a0005c0008t0001g0101	16	245	0.0653	c.144 others(4): Show c.1446C>T	p.Asn others(6): Show p.Asn482Asn	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	9/12	1618/2062	1446/1683	482/560	chr17	TogoVar
AATK_chr17_81112295_81171221	81118426	G G	A A	synonymous_variant synonymous_variant	LOW	HG00735.hp1 HG00735.hp1	a0004 a0004	a0004c0035 a0004c0035	a0004c0035t0001 a0004c0035t0001	a0004c0035t0001g0114 a0004c0035t0001g0114	1	368	0.0027	c.410 others(4): Show c.4101C>T	p.Ala others(7): Show p.Ala1367Ala	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	14/14	4330/5461	4101/4125	1367/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81119414	C C	T T	synonymous_variant synonymous_variant	LOW	HG03490.hp2 HG03490.hp2	a0003 a0003	a0003c0044 a0003c0044	a0003c0044t0002 a0003c0044t0002	a0003c0044t0002g0252 a0003c0044t0002g0252	1	368	0.0027	c.405 others(4): Show c.4050G>A	p.Thr others(7): Show p.Thr1350Thr	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/14	4279/5461	4050/4125	1350/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81119498	G G	A A	synonymous_variant synonymous_variant	LOW	HG02145.hp2 HG02559.hp2 HG02630.hp1 others(1): Show HG02145.hp2 HG02559.hp2 HG02630.hp1 HG03195.hp2	a0003 a0023 a0032 a0003 a0023 a0032	a0003c0023 a0023c0053 a0032c0041 a0003c0023 a0023c0053 a0032c0041	a0003c0023t0001 a0023c0053t0006 a0032c0041t0006 a0003c0023t0001 a0023c0053t0006 a0032c0041t0006	a0003c0023t0001g0172 a0003c0023t0001g0202 a0023c0053t0006g0228 others(1): Show a0003c0023t0001g0172 a0003c0023t0001g0202 a0023c0053t0006g0228 a0032c0041t0006g0341	4	368	0.0109	c.396 others(4): Show c.3966C>T	p.Pro others(7): Show p.Pro1322Pro	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/14	4195/5461	3966/4125	1322/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81120243	G G	T T	synonymous_variant synonymous_variant	LOW	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0108 a0001c0040t0001g0108	1	368	0.0027	c.369 others(4): Show c.3693C>A	p.Ala others(7): Show p.Ala1231Ala	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	3922/5461	3693/4125	1231/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81120429	G G	A A	synonymous_variant synonymous_variant	LOW	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0057 a0002c0057	a0002c0057t0001 a0002c0057t0001	a0002c0057t0001g0241 a0002c0057t0001g0241	1	368	0.0027	c.350 others(4): Show c.3507C>T	p.Asp others(7): Show p.Asp1169Asp	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	3736/5461	3507/4125	1169/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81120642	G G	A A	synonymous_variant synonymous_variant	LOW	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0045 a0003c0045	a0003c0045t0002 a0003c0045t0002	a0003c0045t0002g0156 a0003c0045t0002g0156	1	368	0.0027	c.329 others(4): Show c.3294C>T	p.Ser others(7): Show p.Ser1098Ser	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	3523/5461	3294/4125	1098/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81120873	G G	A A	synonymous_variant synonymous_variant	LOW	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0062 a0004c0062	a0004c0062t0001 a0004c0062t0001	a0004c0062t0001g0200 a0004c0062t0001g0200	1	368	0.0027	c.306 others(4): Show c.3063C>T	p.Pro others(7): Show p.Pro1021Pro	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	3292/5461	3063/4125	1021/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81121095	A A	G G	synonymous_variant synonymous_variant	LOW	HG02559.hp2 HG02886.hp2 HG03195.hp2 HG02559.hp2 HG02886.hp2 HG03195.hp2	a0003 a0027 a0003 a0027	a0003c0023 a0027c0048 a0003c0023 a0027c0048	a0003c0023t0001 a0027c0048t0004 a0003c0023t0001 a0027c0048t0004	a0003c0023t0001g0172 a0003c0023t0001g0202 a0027c0048t0004g0310 a0003c0023t0001g0172 a0003c0023t0001g0202 a0027c0048t0004g0310	3	368	0.0082	c.284 others(4): Show c.2841T>C	p.Pro others(6): Show p.Pro947Pro	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	3070/5461	2841/4125	947/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81121209	C C	T T	synonymous_variant synonymous_variant	LOW	HG01261.hp1 HG02615.hp2 HG02647.hp2 HG01261.hp1 HG02615.hp2 HG02647.hp2	a0003 a0003	a0003c0027 a0003c0047 a0003c0027 a0003c0047	a0003c0027t0001 a0003c0047t0001 a0003c0027t0001 a0003c0047t0001	a0003c0027t0001g0281 a0003c0027t0001g0323 a0003c0047t0001g0303 a0003c0027t0001g0281 a0003c0027t0001g0323 a0003c0047t0001g0303	3	368	0.0082	c.272 others(4): Show c.2727G>A	p.Pro others(6): Show p.Pro909Pro	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2956/5461	2727/4125	909/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81121344	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(289): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(28): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0031 a0032 a0033 a0034 a0035 a0037	a0001c0001 a0001c0011 a0001c0040 others(58): Show a0001c0001 a0001c0011 a0001c0040 a0001c0066 a0002c0002 a0002c0032 a0002c0057 a0002c0061 a0002c0064 a0002c0073 a0002c0075 a0003c0007 a0003c0009 a0003c0020 a0003c0023 a0003c0024 a0003c0027 a0003c0047 a0004c0005 a0004c0029 a0004c0035 a0004c0062 a0005c0006 a0005c0021 a0005c0033 a0005c0059 a0006c0012 a0006c0013 a0006c0042 a0006c0056 a0006c0069 a0007c0008 a0007c0031 a0007c0071 a0009c0019 a0009c0025 a0009c0065 a0010c0014 a0010c0030 a0011c0018 a0012c0016 a0014c0028 a0015c0022 a0016c0026 a0017c0074 a0018c0072 a0019c0067 a0020c0068 a0022c0054 a0023c0053 a0024c0052 a0025c0070 a0027c0048 a0028c0051 a0029c0050 a0031c0049 a0032c0041 a0033c0039 a0034c0038 a0035c0063 a0037c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(75): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0022 a0001c0011t0001 a0001c0040t0001 a0001c0066t0001 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0017 a0002c0002t0018 a0002c0032t0001 a0002c0057t0001 a0002c0061t0001 a0002c0064t0001 a0002c0073t0007 a0002c0075t0001 a0003c0007t0001 a0003c0007t0019 a0003c0009t0001 a0003c0009t0005 a0003c0020t0001 a0003c0023t0001 a0003c0024t0001 a0003c0027t0001 a0003c0047t0001 a0004c0005t0001 a0004c0005t0005 a0004c0029t0001 a0004c0035t0001 a0004c0062t0001 a0005c0006t0003 a0005c0006t0014 a0005c0006t0021 a0005c0021t0001 a0005c0033t0020 a0005c0059t0003 a0006c0012t0001 a0006c0012t0010 a0006c0013t0001 a0006c0042t0011 a0006c0056t0011 a0006c0069t0001 a0007c0008t0001 a0007c0008t0015 a0007c0031t0001 a0007c0071t0001 a0009c0019t0004 a0009c0025t0004 a0009c0065t0004 a0010c0014t0001 a0010c0030t0001 a0011c0018t0001 a0012c0016t0001 a0014c0028t0001 a0015c0022t0012 a0016c0026t0001 a0017c0074t0001 a0018c0072t0001 a0019c0067t0004 a0020c0068t0004 a0022c0054t0001 a0023c0053t0006 a0024c0052t0001 a0025c0070t0004 a0027c0048t0004 a0028c0051t0001 a0029c0050t0001 a0031c0049t0001 a0032c0041t0006 a0033c0039t0001 a0034c0038t0001 a0035c0063t0001 a0037c0036t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(273): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0076 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0242 a0001c0001t0001g0255 a0001c0001t0001g0273 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0325 a0001c0001t0001g0331 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0002g0234 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0028 a0001c0001t0009g0022 a0001c0001t0009g0023 a0001c0001t0013g0216 a0001c0001t0016g0291 a0001c0001t0022g0346 a0001c0011t0001g0198 a0001c0011t0001g0249 a0001c0011t0001g0267 a0001c0011t0001g0272 a0001c0011t0001g0277 a0001c0040t0001g0108 a0001c0066t0001g0188 a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0055 a0002c0002t0001g0061 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0078 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0089 a0002c0002t0001g0092 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0110 a0002c0002t0001g0117 a0002c0002t0001g0128 a0002c0002t0001g0134 a0002c0002t0001g0137 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0161 a0002c0002t0001g0171 a0002c0002t0001g0185 a0002c0002t0001g0193 a0002c0002t0001g0203 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0259 a0002c0002t0001g0270 a0002c0002t0001g0275 a0002c0002t0001g0282 a0002c0002t0001g0290 a0002c0002t0001g0304 a0002c0002t0001g0327 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0006g0218 a0002c0002t0007g0140 a0002c0002t0007g0148 a0002c0002t0007g0175 a0002c0002t0017g0097 a0002c0002t0018g0151 a0002c0032t0001g0292 a0002c0057t0001g0241 a0002c0061t0001g0044 a0002c0064t0001g0269 a0002c0073t0007g0196 a0002c0075t0001g0344 a0003c0007t0001g0121 a0003c0007t0001g0190 a0003c0007t0001g0235 a0003c0007t0001g0262 a0003c0007t0001g0268 a0003c0007t0001g0271 a0003c0007t0001g0276 a0003c0007t0001g0278 a0003c0007t0001g0280 a0003c0007t0001g0286 a0003c0007t0001g0311 a0003c0007t0001g0318 a0003c0007t0001g0319 a0003c0007t0019g0321 a0003c0009t0001g0046 a0003c0009t0001g0062 a0003c0009t0001g0158 a0003c0009t0001g0245 a0003c0009t0001g0247 a0003c0009t0001g0248 a0003c0009t0001g0257 a0003c0009t0001g0326 a0003c0009t0005g0027 a0003c0020t0001g0008 a0003c0023t0001g0172 a0003c0023t0001g0202 a0003c0024t0001g0082 a0003c0024t0001g0191 a0003c0027t0001g0281 a0003c0027t0001g0323 a0003c0047t0001g0303 a0004c0005t0001g0015 a0004c0005t0001g0057 a0004c0005t0001g0058 a0004c0005t0001g0059 a0004c0005t0001g0065 a0004c0005t0001g0077 a0004c0005t0001g0086 a0004c0005t0001g0113 a0004c0005t0001g0122 a0004c0005t0001g0180 a0004c0005t0001g0181 a0004c0005t0001g0253 a0004c0005t0001g0258 a0004c0005t0001g0317 a0004c0005t0005g0024 a0004c0029t0001g0021 a0004c0035t0001g0114 a0004c0062t0001g0200 a0005c0006t0003g0018 a0005c0006t0003g0115 a0005c0006t0003g0187 a0005c0006t0003g0230 a0005c0006t0003g0232 a0005c0006t0003g0263 a0005c0006t0003g0294 a0005c0006t0003g0295 a0005c0006t0003g0300 a0005c0006t0003g0301 a0005c0006t0003g0328 a0005c0006t0014g0293 a0005c0006t0021g0345 a0005c0021t0001g0206 a0005c0021t0001g0337 a0005c0033t0020g0324 a0005c0059t0003g0233 a0006c0012t0001g0146 a0006c0012t0001g0226 a0006c0012t0010g0106 a0006c0012t0010g0250 a0006c0013t0001g0013 a0006c0013t0001g0205 a0006c0013t0001g0224 a0006c0042t0011g0335 a0006c0056t0011g0332 a0006c0069t0001g0340 a0007c0008t0001g0068 a0007c0008t0001g0091 a0007c0008t0001g0118 a0007c0008t0001g0130 a0007c0008t0001g0215 a0007c0008t0001g0227 a0007c0008t0001g0229 a0007c0008t0001g0320 a0007c0008t0015g0201 a0007c0031t0001g0261 a0007c0071t0001g0204 a0009c0019t0004g0237 a0009c0019t0004g0238 a0009c0019t0004g0239 a0009c0025t0004g0334 a0009c0025t0004g0336 a0009c0065t0004g0236 a0010c0014t0001g0020 a0010c0014t0001g0251 a0010c0030t0001g0289 a0011c0018t0001g0072 a0011c0018t0001g0080 a0011c0018t0001g0090 a0012c0016t0001g0168 a0012c0016t0001g0170 a0012c0016t0001g0184 a0014c0028t0001g0342 a0014c0028t0001g0343 a0015c0022t0012g0246 a0015c0022t0012g0266 a0016c0026t0001g0011 a0017c0074t0001g0182 a0018c0072t0001g0322 a0019c0067t0004g0333 a0020c0068t0004g0231 a0022c0054t0001g0225 a0023c0053t0006g0228 a0024c0052t0001g0165 a0025c0070t0004g0183 a0027c0048t0004g0310 a0028c0051t0001g0029 a0029c0050t0001g0287 a0031c0049t0001g0067 a0032c0041t0006g0341 a0033c0039t0001g0265 a0034c0038t0001g0169 a0035c0063t0001g0111 a0037c0036t0001g0079	292	368	0.7935	c.259 others(4): Show c.2592C>T	p.Ala others(6): Show p.Ala864Ala	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2821/5461	2592/4125	864/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81121452	C C	T T	synonymous_variant synonymous_variant	LOW	HG01884.hp1 HG02976.hp1 HG01884.hp1 HG02976.hp1	a0006 a0006	a0006c0042 a0006c0056 a0006c0042 a0006c0056	a0006c0042t0011 a0006c0056t0011 a0006c0042t0011 a0006c0056t0011	a0006c0042t0011g0335 a0006c0056t0011g0332 a0006c0042t0011g0335 a0006c0056t0011g0332	2	368	0.0054	c.248 others(4): Show c.2484G>A	p.Thr others(6): Show p.Thr828Thr	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2713/5461	2484/4125	828/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81121566	G G	A A	synonymous_variant synonymous_variant	LOW	HG02886.hp1 HG02896.hp2 HG02897.hp2 others(2): Show HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03209.hp1 NA20129.hp1	a0006 a0022 a0006 a0022	a0006c0013 a0022c0054 a0006c0013 a0022c0054	a0006c0013t0001 a0022c0054t0001 a0006c0013t0001 a0022c0054t0001	a0006c0013t0001g0013 a0006c0013t0001g0205 a0006c0013t0001g0224 others(1): Show a0006c0013t0001g0013 a0006c0013t0001g0205 a0006c0013t0001g0224 a0022c0054t0001g0225	5	368	0.0136	c.237 others(4): Show c.2370C>T	p.Thr others(6): Show p.Thr790Thr	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2599/5461	2370/4125	790/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81121707	G G	A A	synonymous_variant synonymous_variant	LOW	NA18973.hp2 NA18985.hp1 NA18973.hp2 NA18985.hp1	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0001 a0003c0024t0001	a0003c0024t0001g0082 a0003c0024t0001g0191 a0003c0024t0001g0082 a0003c0024t0001g0191	2	368	0.0054	c.222 others(4): Show c.2229C>T	p.Pro others(6): Show p.Pro743Pro	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2458/5461	2229/4125	743/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81122184	G G	A A	synonymous_variant synonymous_variant	LOW	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0066 a0001c0066	a0001c0066t0001 a0001c0066t0001	a0001c0066t0001g0188 a0001c0066t0001g0188	1	368	0.0027	c.175 others(4): Show c.1752C>T	p.Val others(6): Show p.Val584Val	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	1981/5461	1752/4125	584/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81124744	G G	A A	synonymous_variant synonymous_variant	LOW	HG02258.hp1 HG02723.hp1 HG02970.hp1 others(2): Show HG02258.hp1 HG02723.hp1 HG02970.hp1 HG02970.hp2 NA19240.hp2	a0006 a0009 a0025 a0006 a0009 a0025	a0006c0069 a0009c0019 a0025c0070 a0006c0069 a0009c0019 a0025c0070	a0006c0069t0001 a0009c0019t0004 a0025c0070t0004 a0006c0069t0001 a0009c0019t0004 a0025c0070t0004	a0006c0069t0001g0340 a0009c0019t0004g0237 a0009c0019t0004g0238 others(2): Show a0006c0069t0001g0340 a0009c0019t0004g0237 a0009c0019t0004g0238 a0009c0019t0004g0239 a0025c0070t0004g0183	5	368	0.0136	c.945 others(3): Show c.945C>T	p.Thr others(6): Show p.Thr315Thr	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	9/14	1174/5461	945/4125	315/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81124780	G G	A A	synonymous_variant synonymous_variant	LOW	HG01884.hp1 HG03942.hp1 HG01884.hp1 HG03942.hp1	a0002 a0006 a0002 a0006	a0002c0057 a0006c0056 a0002c0057 a0006c0056	a0002c0057t0001 a0006c0056t0011 a0002c0057t0001 a0006c0056t0011	a0002c0057t0001g0241 a0006c0056t0011g0332 a0002c0057t0001g0241 a0006c0056t0011g0332	2	368	0.0054	c.909 others(3): Show c.909C>T	p.Asp others(6): Show p.Asp303Asp	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	9/14	1138/5461	909/4125	303/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81125014	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0071 a0007c0071	a0007c0071t0001 a0007c0071t0001	a0007c0071t0001g0204 a0007c0071t0001g0204	1	368	0.0027	c.756 others(3): Show c.756C>T	p.Ser others(6): Show p.Ser252Ser	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	8/14	985/5461	756/4125	252/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81126462	G G	A A	synonymous_variant synonymous_variant	LOW	HG01346.hp1 HG01346.hp1	a0003 a0003	a0003c0058 a0003c0058	a0003c0058t0002 a0003c0058t0002	a0003c0058t0002g0063 a0003c0058t0002g0063	1	368	0.0027	c.720 others(3): Show c.720C>T	p.Gly others(6): Show p.Gly240Gly	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	7/14	949/5461	720/4125	240/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81126468	G G	T T	synonymous_variant synonymous_variant	LOW	HG02717.hp2 HG03041.hp2 HG02717.hp2 HG03041.hp2	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0001 a0005c0021t0001	a0005c0021t0001g0206 a0005c0021t0001g0337 a0005c0021t0001g0206 a0005c0021t0001g0337	2	368	0.0054	c.714 others(3): Show c.714C>A	p.Ala others(6): Show p.Ala238Ala	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	7/14	943/5461	714/4125	238/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81126495	G G	T T	synonymous_variant synonymous_variant	LOW	NA18906.hp2 NA18906.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0020 a0005c0033t0020	a0005c0033t0020g0324 a0005c0033t0020g0324	1	368	0.0027	c.687 others(3): Show c.687C>A	p.Thr others(6): Show p.Thr229Thr	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	7/14	916/5461	687/4125	229/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81126540	C C	T T	synonymous_variant synonymous_variant	LOW	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0001 a0002c0032t0001	a0002c0032t0001g0292 a0002c0032t0001g0292	1	368	0.0027	c.642 others(3): Show c.642G>A	p.Leu others(6): Show p.Leu214Leu	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	7/14	871/5461	642/4125	214/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81127797	G G	A A	synonymous_variant synonymous_variant	LOW	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0059 a0005c0059	a0005c0059t0003 a0005c0059t0003	a0005c0059t0003g0233 a0005c0059t0003g0233	1	368	0.0027	c.528 others(3): Show c.528C>T	p.Pro others(6): Show p.Pro176Pro	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	5/14	757/5461	528/4125	176/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81128476	G G	A A	synonymous_variant synonymous_variant	LOW	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0002 a0001c0060t0002	a0001c0060t0002g0056 a0001c0060t0002g0056	1	368	0.0027	c.408 others(3): Show c.408C>T	p.Phe others(6): Show p.Phe136Phe	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	4/14	637/5461	408/4125	136/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81128530	T T	C C	synonymous_variant synonymous_variant	LOW	HG00639.hp2 HG00738.hp1 HG01256.hp2 others(37): Show HG00639.hp2 HG00738.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG02258.hp1 HG02280.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03834.hp2 HG04199.hp1 NA18943.hp2 NA18960.hp2 NA18964.hp2 NA18967.hp1 NA18970.hp2 NA18977.hp2 NA19002.hp1 NA19043.hp2 NA19056.hp2 NA19066.hp1 NA19091.hp2 NA19240.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0016 a0017 a0019 a0020 a0025 a0035	a0001c0011 a0001c0066 a0002c0064 others(15): Show a0001c0011 a0001c0066 a0002c0064 a0003c0007 a0003c0020 a0003c0027 a0004c0062 a0006c0069 a0007c0031 a0007c0071 a0009c0019 a0009c0065 a0016c0026 a0017c0074 a0019c0067 a0020c0068 a0025c0070 a0035c0063	a0001c0011t0001 a0001c0066t0001 a0002c0064t0001 others(16): Show a0001c0011t0001 a0001c0066t0001 a0002c0064t0001 a0003c0007t0001 a0003c0007t0019 a0003c0020t0001 a0003c0027t0001 a0004c0062t0001 a0006c0069t0001 a0007c0031t0001 a0007c0071t0001 a0009c0019t0004 a0009c0065t0004 a0016c0026t0001 a0017c0074t0001 a0019c0067t0004 a0020c0068t0004 a0025c0070t0004 a0035c0063t0001	a0001c0011t0001g0198 a0001c0011t0001g0249 a0001c0011t0001g0267 others(35): Show a0001c0011t0001g0198 a0001c0011t0001g0249 a0001c0011t0001g0267 a0001c0011t0001g0272 a0001c0011t0001g0277 a0001c0066t0001g0188 a0002c0064t0001g0269 a0003c0007t0001g0121 a0003c0007t0001g0190 a0003c0007t0001g0235 a0003c0007t0001g0262 a0003c0007t0001g0268 a0003c0007t0001g0271 a0003c0007t0001g0276 a0003c0007t0001g0278 a0003c0007t0001g0280 a0003c0007t0001g0286 a0003c0007t0001g0311 a0003c0007t0001g0318 a0003c0007t0001g0319 a0003c0007t0019g0321 a0003c0020t0001g0008 a0003c0027t0001g0281 a0003c0027t0001g0323 a0004c0062t0001g0200 a0006c0069t0001g0340 a0007c0031t0001g0261 a0007c0071t0001g0204 a0009c0019t0004g0237 a0009c0019t0004g0238 a0009c0019t0004g0239 a0009c0065t0004g0236 a0016c0026t0001g0011 a0017c0074t0001g0182 a0019c0067t0004g0333 a0020c0068t0004g0231 a0025c0070t0004g0183 a0035c0063t0001g0111	40	368	0.1087	c.354 others(3): Show c.354A>G	p.Thr others(6): Show p.Thr118Thr	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	4/14	583/5461	354/4125	118/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81128530	T T	G G	synonymous_variant synonymous_variant	LOW	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0061 a0002c0061	a0002c0061t0001 a0002c0061t0001	a0002c0061t0001g0044 a0002c0061t0001g0044	1	368	0.0027	c.354 others(3): Show c.354A>C	p.Thr others(6): Show p.Thr118Thr	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	4/14	583/5461	354/4125	118/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81131101	C C	T T	synonymous_variant synonymous_variant	LOW	HG00639.hp2 HG00639.hp2	a0007 a0007	a0007c0031 a0007c0031	a0007c0031t0001 a0007c0031t0001	a0007c0031t0001g0261 a0007c0031t0001g0261	1	368	0.0027	c.294 others(3): Show c.294G>A	p.Thr others(5): Show p.Thr98Thr	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	3/14	523/5461	294/4125	98/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81131122	G G	A A	synonymous_variant synonymous_variant	LOW	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0073 a0002c0073	a0002c0073t0007 a0002c0073t0007	a0002c0073t0007g0196 a0002c0073t0007g0196	1	368	0.0027	c.273 others(3): Show c.273C>T	p.Asp others(5): Show p.Asp91Asp	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	3/14	502/5461	273/4125	91/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81131143	C C	T T	synonymous_variant synonymous_variant	LOW	HG01074.hp2 HG02717.hp2 HG03041.hp2 HG01074.hp2 HG02717.hp2 HG03041.hp2	a0005 a0010 a0005 a0010	a0005c0021 a0010c0030 a0005c0021 a0010c0030	a0005c0021t0001 a0010c0030t0001 a0005c0021t0001 a0010c0030t0001	a0005c0021t0001g0206 a0005c0021t0001g0337 a0010c0030t0001g0289 a0005c0021t0001g0206 a0005c0021t0001g0337 a0010c0030t0001g0289	3	368	0.0082	c.252 others(3): Show c.252G>A	p.Thr others(5): Show p.Thr84Thr	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	3/14	481/5461	252/4125	84/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81131149	C C	T T	synonymous_variant synonymous_variant	LOW	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0001 a0004c0029t0001	a0004c0029t0001g0021 a0004c0029t0001g0021	2	368	0.0054	c.246 others(3): Show c.246G>A	p.Pro others(5): Show p.Pro82Pro	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	3/14	475/5461	246/4125	82/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81134455	C C	T T	synonymous_variant synonymous_variant	LOW	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0001 a0003c0020t0001	a0003c0020t0001g0008 a0003c0020t0001g0008	2	368	0.0054	c.102 others(3): Show c.102G>A	p.Val others(5): Show p.Val34Val	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	2/14	331/5461	102/4125	34/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81165939	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0075 a0002c0075	a0002c0075t0001 a0002c0075t0001	a0002c0075t0001g0344 a0002c0075t0001g0344	1	368	0.0027	c.54C others(2): Show c.54C>T	p.Pro others(5): Show p.Pro18Pro	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/14	283/5461	54/4125	18/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81165945	G G	A A	synonymous_variant synonymous_variant	LOW	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0001 a0004c0029t0001	a0004c0029t0001g0021 a0004c0029t0001g0021	2	368	0.0054	c.48C others(2): Show c.48C>T	p.Phe others(5): Show p.Phe16Phe	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/14	277/5461	48/4125	16/1374	chr17	TogoVar
ABAT_chr16_8669617_8789570	8735769	G G	A A	synonymous_variant synonymous_variant	LOW	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0002 a0001c0011t0001 a0001c0011t0002	a0001c0011t0001g0206 a0001c0011t0002g0205 a0001c0011t0001g0206 a0001c0011t0002g0205	2	362	0.0055	c.30G others(2): Show c.30G>A	p.Leu others(5): Show p.Leu10Leu	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/16	166/4779	30/1503	10/500	chr16	TogoVar
ABAT_chr16_8669617_8789570	8746059	G G	A A	synonymous_variant synonymous_variant	LOW	HG01891.hp1 HG02257.hp1 HG02451.hp2 others(15): Show HG01891.hp1 HG02257.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 NA19240.hp1	a0002 a0002	a0002c0007 a0002c0008 a0002c0012 others(1): Show a0002c0007 a0002c0008 a0002c0012 a0002c0015	a0002c0007t0003 a0002c0007t0007 a0002c0007t0008 others(8): Show a0002c0007t0003 a0002c0007t0007 a0002c0007t0008 a0002c0007t0011 a0002c0007t0013 a0002c0007t0014 a0002c0007t0018 a0002c0008t0002 a0002c0008t0003 a0002c0012t0002 a0002c0015t0005	a0002c0007t0003g0005 a0002c0007t0007g0247 a0002c0007t0007g0341 others(15): Show a0002c0007t0003g0005 a0002c0007t0007g0247 a0002c0007t0007g0341 a0002c0007t0008g0025 a0002c0007t0011g0004 a0002c0007t0013g0027 a0002c0007t0013g0031 a0002c0007t0014g0048 a0002c0007t0014g0182 a0002c0007t0018g0317 a0002c0008t0002g0012 a0002c0008t0002g0013 a0002c0008t0002g0014 a0002c0008t0003g0015 a0002c0008t0003g0028 a0002c0012t0002g0339 a0002c0012t0002g0346 a0002c0015t0005g0310	18	362	0.0497	c.129 others(3): Show c.129G>A	p.Gly others(5): Show p.Gly43Gly	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	3/16	265/4779	129/1503	43/500	chr16	TogoVar
ABAT_chr16_8669617_8789570	8750490	C C	T T	synonymous_variant synonymous_variant	LOW	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0024 a0001c0023t0024	a0001c0023t0024g0281 a0001c0023t0024g0281	1	362	0.0028	c.267 others(3): Show c.267C>T	p.Asp others(5): Show p.Asp89Asp	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	5/16	403/4779	267/1503	89/500	chr16	TogoVar
ABAT_chr16_8669617_8789570	8750532	C C	T T	synonymous_variant synonymous_variant	LOW	HG00673.hp1 HG00673.hp2 HG01168.hp1 others(35): Show HG00673.hp1 HG00673.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01433.hp1 HG01496.hp1 HG01943.hp1 HG01993.hp2 HG02015.hp2 HG02074.hp1 HG02155.hp2 HG02523.hp2 HG02602.hp2 HG02698.hp2 HG03098.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18955.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18986.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19007.hp1 NA19010.hp1 NA19055.hp2 NA19060.hp2 NA19082.hp2 NA19087.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0013 a0002c0005 a0002c0006 others(1): Show a0001c0013 a0002c0005 a0002c0006 a0005c0019	a0001c0013t0002 a0002c0005t0001 a0002c0005t0003 others(12): Show a0001c0013t0002 a0002c0005t0001 a0002c0005t0003 a0002c0005t0004 a0002c0005t0008 a0002c0005t0015 a0002c0005t0016 a0002c0005t0041 a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 a0002c0006t0005 a0002c0006t0007 a0002c0006t0030 a0005c0019t0002	a0001c0013t0002g0203 a0001c0013t0002g0204 a0002c0005t0001g0022 others(35): Show a0001c0013t0002g0203 a0001c0013t0002g0204 a0002c0005t0001g0022 a0002c0005t0001g0062 a0002c0005t0001g0214 a0002c0005t0001g0215 a0002c0005t0001g0222 a0002c0005t0001g0225 a0002c0005t0001g0237 a0002c0005t0001g0298 a0002c0005t0003g0070 a0002c0005t0003g0075 a0002c0005t0003g0132 a0002c0005t0003g0180 a0002c0005t0003g0207 a0002c0005t0004g0186 a0002c0005t0004g0190 a0002c0005t0004g0194 a0002c0005t0004g0268 a0002c0005t0008g0016 a0002c0005t0008g0017 a0002c0005t0015g0084 a0002c0005t0016g0072 a0002c0005t0041g0319 a0002c0006t0001g0124 a0002c0006t0001g0183 a0002c0006t0001g0199 a0002c0006t0001g0349 a0002c0006t0002g0104 a0002c0006t0002g0118 a0002c0006t0002g0161 a0002c0006t0002g0210 a0002c0006t0002g0348 a0002c0006t0003g0023 a0002c0006t0005g0129 a0002c0006t0007g0228 a0002c0006t0030g0008 a0005c0019t0002g0164	38	362	0.1050	c.309 others(3): Show c.309C>T	p.Val others(6): Show p.Val103Val	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	5/16	445/4779	309/1503	103/500	chr16	TogoVar
ABAT_chr16_8669617_8789570	8768841	G G	A A	synonymous_variant synonymous_variant	LOW	HG02074.hp2 HG03239.hp1 HG02074.hp2 HG03239.hp1	a0001 a0002 a0001 a0002	a0001c0021 a0002c0016 a0001c0021 a0002c0016	a0001c0021t0001 a0002c0016t0003 a0001c0021t0001 a0002c0016t0003	a0001c0021t0001g0111 a0002c0016t0003g0235 a0001c0021t0001g0111 a0002c0016t0003g0235	2	362	0.0055	c.684 others(3): Show c.684G>A	p.Thr others(6): Show p.Thr228Thr	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	11/16	820/4779	684/1503	228/500	chr16	TogoVar
ABAT_chr16_8669617_8789570	8772827	C C	T T	synonymous_variant synonymous_variant	LOW	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0262 a0001c0022t0002g0262	1	362	0.0028	c.864 others(3): Show c.864C>T	p.Ala others(6): Show p.Ala288Ala	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	12/16	1000/4779	864/1503	288/500	chr16	TogoVar
ABAT_chr16_8669617_8789570	8774919	C C	A A	synonymous_variant synonymous_variant	LOW	HG00438.hp2 HG00544.hp2 HG00609.hp1 others(113): Show HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01258.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp2 HG02965.hp1 HG03017.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0021 a0001c0023 others(5): Show a0001c0003 a0001c0021 a0001c0023 a0002c0004 a0002c0005 a0002c0015 a0002c0016 a0002c0017	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(25): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0015 a0001c0003t0035 a0001c0003t0036 a0001c0003t0044 a0001c0021t0001 a0001c0023t0024 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0007 a0002c0004t0008 a0002c0004t0031 a0002c0005t0001 a0002c0005t0003 a0002c0005t0004 a0002c0005t0008 a0002c0005t0015 a0002c0005t0016 a0002c0005t0041 a0002c0015t0005 a0002c0016t0003 a0002c0017t0002	a0001c0003t0001g0035 a0001c0003t0001g0089 a0001c0003t0001g0092 others(113): Show a0001c0003t0001g0035 a0001c0003t0001g0089 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0097 a0001c0003t0001g0234 a0001c0003t0001g0240 a0001c0003t0001g0252 a0001c0003t0001g0356 a0001c0003t0002g0060 a0001c0003t0002g0148 a0001c0003t0002g0177 a0001c0003t0002g0179 a0001c0003t0002g0189 a0001c0003t0002g0249 a0001c0003t0003g0064 a0001c0003t0003g0083 a0001c0003t0003g0088 a0001c0003t0003g0100 a0001c0003t0003g0107 a0001c0003t0003g0114 a0001c0003t0003g0119 a0001c0003t0003g0120 a0001c0003t0003g0126 a0001c0003t0003g0133 a0001c0003t0003g0135 a0001c0003t0003g0136 a0001c0003t0003g0147 a0001c0003t0003g0155 a0001c0003t0003g0165 a0001c0003t0003g0167 a0001c0003t0003g0175 a0001c0003t0003g0187 a0001c0003t0003g0211 a0001c0003t0003g0220 a0001c0003t0003g0221 a0001c0003t0003g0224 a0001c0003t0003g0236 a0001c0003t0003g0263 a0001c0003t0003g0267 a0001c0003t0003g0276 a0001c0003t0003g0277 a0001c0003t0003g0300 a0001c0003t0003g0304 a0001c0003t0003g0350 a0001c0003t0003g0355 a0001c0003t0003g0357 a0001c0003t0003g0359 a0001c0003t0004g0103 a0001c0003t0004g0123 a0001c0003t0004g0279 a0001c0003t0004g0290 a0001c0003t0004g0291 a0001c0003t0004g0294 a0001c0003t0004g0360 a0001c0003t0005g0233 a0001c0003t0015g0130 a0001c0003t0035g0266 a0001c0003t0036g0158 a0001c0003t0044g0261 a0001c0021t0001g0111 a0001c0023t0024g0281 a0002c0004t0001g0019 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0128 a0002c0004t0001g0141 a0002c0004t0001g0142 a0002c0004t0001g0223 a0002c0004t0001g0230 a0002c0004t0001g0265 a0002c0004t0001g0282 a0002c0004t0001g0288 a0002c0004t0002g0174 a0002c0004t0002g0229 a0002c0004t0002g0315 a0002c0004t0003g0001 a0002c0004t0003g0032 a0002c0004t0003g0068 a0002c0004t0003g0082 a0002c0004t0003g0172 a0002c0004t0003g0181 a0002c0004t0003g0196 a0002c0004t0003g0198 a0002c0004t0003g0200 a0002c0004t0003g0231 a0002c0004t0004g0115 a0002c0004t0004g0362 a0002c0004t0007g0347 a0002c0004t0008g0176 a0002c0004t0031g0333 a0002c0005t0001g0022 a0002c0005t0001g0062 a0002c0005t0001g0214 a0002c0005t0001g0215 a0002c0005t0001g0222 a0002c0005t0001g0225 a0002c0005t0001g0237 a0002c0005t0001g0298 a0002c0005t0003g0070 a0002c0005t0003g0075 a0002c0005t0003g0132 a0002c0005t0003g0180 a0002c0005t0003g0207 a0002c0005t0004g0186 a0002c0005t0004g0190 a0002c0005t0004g0194 a0002c0005t0004g0268 a0002c0005t0008g0016 a0002c0005t0008g0017 a0002c0005t0015g0084 a0002c0005t0016g0072 a0002c0005t0041g0319 a0002c0015t0005g0310 a0002c0016t0003g0235 a0002c0017t0002g0044	116	362	0.3204	c.984 others(3): Show c.984C>A	p.Val others(6): Show p.Val328Val	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	13/16	1120/4779	984/1503	328/500	chr16	TogoVar
ABAT_chr16_8669617_8789570	8776368	C C	T T	synonymous_variant synonymous_variant	LOW	HG02257.hp1 HG02486.hp2 HG02559.hp1 others(7): Show HG02257.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02922.hp2 HG03130.hp2 NA19240.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0007 a0002c0007t0008 others(4): Show a0002c0007t0003 a0002c0007t0007 a0002c0007t0008 a0002c0007t0011 a0002c0007t0013 a0002c0007t0014 a0002c0007t0018	a0002c0007t0003g0005 a0002c0007t0007g0247 a0002c0007t0007g0341 others(7): Show a0002c0007t0003g0005 a0002c0007t0007g0247 a0002c0007t0007g0341 a0002c0007t0008g0025 a0002c0007t0011g0004 a0002c0007t0013g0027 a0002c0007t0013g0031 a0002c0007t0014g0048 a0002c0007t0014g0182 a0002c0007t0018g0317	10	362	0.0276	c.114 others(4): Show c.1147C>T	p.Leu others(6): Show p.Leu383Leu	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	14/16	1283/4779	1147/1503	383/500	chr16	TogoVar
ABAT_chr16_8669617_8789570	8779487	C C	T T	synonymous_variant synonymous_variant	LOW	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0046 a0002c0018t0046	a0002c0018t0046g0336 a0002c0018t0046g0336	1	362	0.0028	c.127 others(4): Show c.1278C>T	p.Tyr others(6): Show p.Tyr426Tyr	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	15/16	1414/4779	1278/1503	426/500	chr16	TogoVar
ABAT_chr16_8669617_8789570	8781379	C C	T T	synonymous_variant synonymous_variant	LOW	HG01891.hp2 HG02055.hp2 HG02258.hp1 others(4): Show HG01891.hp2 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02976.hp2 HG03139.hp2 HG03540.hp2	a0002 a0002	a0002c0009 a0002c0012 a0002c0017 a0002c0009 a0002c0012 a0002c0017	a0002c0009t0002 a0002c0012t0002 a0002c0017t0002 a0002c0009t0002 a0002c0012t0002 a0002c0017t0002	a0002c0009t0002g0003 a0002c0009t0002g0316 a0002c0009t0002g0320 others(4): Show a0002c0009t0002g0003 a0002c0009t0002g0316 a0002c0009t0002g0320 a0002c0009t0002g0340 a0002c0012t0002g0339 a0002c0012t0002g0346 a0002c0017t0002g0044	7	362	0.0193	c.145 others(4): Show c.1452C>T	p.His others(6): Show p.His484His	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	16/16	1588/4779	1452/1503	484/500	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69153343	C C	T T	synonymous_variant synonymous_variant	LOW	HG02451.hp2 HG02559.hp2 HG02572.hp1 others(5): Show HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02965.hp2 HG03098.hp2 HG03225.hp1 HG03579.hp1 HG06807.hp1	a0005 a0008 a0005 a0008	a0005c0013 a0008c0009 a0005c0013 a0008c0009	a0005c0013t0001 a0008c0009t0009 a0005c0013t0001 a0008c0009t0009	a0005c0013t0001g0039 a0005c0013t0001g0049 a0008c0009t0009g0004 others(4): Show a0005c0013t0001g0039 a0005c0013t0001g0049 a0008c0009t0009g0004 a0008c0009t0009g0200 a0008c0009t0009g0226 a0008c0009t0009g0244 a0008c0009t0009g0245	8	348	0.0230	c.409 others(4): Show c.4098G>A	p.Pro others(7): Show p.Pro1366Pro	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	34/39	4654/6008	4098/4632	1366/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69153525	G G	A A	synonymous_variant synonymous_variant	LOW	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0002 a0001c0034t0002	a0001c0034t0002g0109 a0001c0034t0002g0109	1	348	0.0029	c.398 others(4): Show c.3987C>T	p.Leu others(7): Show p.Leu1329Leu	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	33/39	4543/6008	3987/4632	1329/1543	chr17	TogoVar

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