Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
AIFM3_chr22_20962255_20986358	20973821	C C	T T	synonymous_variant synonymous_variant	LOW	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0077 a0001c0026t0001g0077	1	454	0.0022	c.309 others(3): Show c.309C>T	p.His others(6): Show p.His103His	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	4/21	498/2334	309/1818	103/605	chr22	TogoVar
AIFM3_chr22_20962255_20986358	20974587	C C	T T	synonymous_variant synonymous_variant	LOW	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0010 a0001c0025t0001g0010	1	454	0.0022	c.573 others(3): Show c.573C>T	p.Tyr others(6): Show p.Tyr191Tyr	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	7/21	762/2334	573/1818	191/605	chr22	TogoVar
AIFM3_chr22_20962255_20986358	20974795	C C	T T	synonymous_variant synonymous_variant	LOW	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0004 a0001c0024t0004	a0001c0024t0004g0072 a0001c0024t0004g0072	1	454	0.0022	c.699 others(3): Show c.699C>T	p.Tyr others(6): Show p.Tyr233Tyr	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	8/21	888/2334	699/1818	233/605	chr22	TogoVar
AIFM3_chr22_20962255_20986358	20976471	G G	A A	synonymous_variant synonymous_variant	LOW	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0141 a0001c0014t0001g0141	1	454	0.0022	c.963 others(3): Show c.963G>A	p.Glu others(6): Show p.Glu321Glu	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	11/21	1152/2334	963/1818	321/605	chr22	TogoVar
AIFM3_chr22_20962255_20986358	20976498	C C	T T	synonymous_variant synonymous_variant	LOW	HG00438.hp1 HG00544.hp2 HG00597.hp2 others(81): Show HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp2 HG02083.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18906.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18961.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18988.hp1 NA18993.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19009.hp2 NA19010.hp2 NA19043.hp2 NA19058.hp2 NA19065.hp2 NA19070.hp2 NA19072.hp2 NA19082.hp1 NA19087.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0012	a0001c0002 a0001c0004 a0001c0014 others(3): Show a0001c0002 a0001c0004 a0001c0014 a0002c0007 a0011c0022 a0012c0023	a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 others(6): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0004t0001 a0001c0004t0007 a0001c0014t0001 a0002c0007t0003 a0011c0022t0001 a0012c0023t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0010 others(47): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0023 a0001c0002t0001g0026 a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0038 a0001c0002t0001g0047 a0001c0002t0001g0054 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0093 a0001c0002t0001g0097 a0001c0002t0001g0115 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0138 a0001c0002t0001g0160 a0001c0002t0001g0168 a0001c0002t0001g0173 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0232 a0001c0002t0001g0270 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0287 a0001c0002t0004g0207 a0001c0002t0005g0050 a0001c0002t0005g0116 a0001c0002t0005g0166 a0001c0004t0001g0019 a0001c0004t0001g0022 a0001c0004t0001g0074 a0001c0004t0001g0218 a0001c0004t0007g0201 a0001c0014t0001g0141 a0002c0007t0003g0073 a0002c0007t0003g0117 a0002c0007t0003g0255 a0011c0022t0001g0022 a0012c0023t0001g0108	84	454	0.1850	c.990 others(3): Show c.990C>T	p.Ala others(6): Show p.Ala330Ala	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	11/21	1179/2334	990/1818	330/605	chr22	TogoVar
AIFM3_chr22_20962255_20986358	20977974	C C	T T	synonymous_variant synonymous_variant	LOW	HG02280.hp2 HG02559.hp1 HG02572.hp1 others(9): Show HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02922.hp2 HG03516.hp1 HG03579.hp1 NA18906.hp1 NA19030.hp1 NA19240.hp2	a0001 a0011 a0001 a0011	a0001c0004 a0001c0006 a0011c0022 a0001c0004 a0001c0006 a0011c0022	a0001c0004t0001 a0001c0004t0007 a0001c0006t0001 others(1): Show a0001c0004t0001 a0001c0004t0007 a0001c0006t0001 a0011c0022t0001	a0001c0004t0001g0019 a0001c0004t0001g0022 a0001c0004t0001g0074 others(6): Show a0001c0004t0001g0019 a0001c0004t0001g0022 a0001c0004t0001g0074 a0001c0004t0001g0218 a0001c0004t0007g0201 a0001c0006t0001g0148 a0001c0006t0001g0204 a0001c0006t0001g0234 a0011c0022t0001g0022	12	454	0.0264	c.144 others(4): Show c.1446C>T	p.Asn others(6): Show p.Asn482Asn	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	16/21	1635/2334	1446/1818	482/605	chr22	TogoVar
AIFM3_chr22_20962255_20986358	20979290	C C	T T	synonymous_variant synonymous_variant	LOW	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0181 a0001c0021t0001g0181	1	454	0.0022	c.149 others(4): Show c.1497C>T	p.Asn others(6): Show p.Asn499Asn	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	17/21	1686/2334	1497/1818	499/605	chr22	TogoVar
AIFM3_chr22_20962255_20986358	20979332	C C	G G	synonymous_variant synonymous_variant	LOW	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0009 a0001c0020t0009	a0001c0020t0009g0167 a0001c0020t0009g0167	1	454	0.0022	c.153 others(4): Show c.1539C>G	p.Leu others(6): Show p.Leu513Leu	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	17/21	1728/2334	1539/1818	513/605	chr22	TogoVar
AIFM3_chr22_20962255_20986358	20980995	T T	A A	synonymous_variant synonymous_variant	LOW	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0001 a0001c0019t0001g0001	1	454	0.0022	c.178 others(4): Show c.1782T>A	p.Thr others(6): Show p.Thr594Thr	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding	21/21	1971/2334	1782/1818	594/605	chr22	TogoVar
AIG1_chr6_143055889_143346058	143060973	T T	C C	synonymous_variant synonymous_variant	LOW	HG00423.hp2 HG00544.hp2 HG00558.hp1 others(76): Show HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01074.hp2 HG01257.hp1 HG01516.hp2 HG01884.hp1 HG01978.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02155.hp1 HG02165.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp2 HG04199.hp2 NA18522.hp1 NA18612.hp1 NA18943.hp1 NA18943.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18979.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp2 NA18994.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0004t0005 a0001c0005t0001	a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0009 others(76): Show a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0019 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0051 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0191 a0001c0002t0002g0006 a0001c0002t0002g0014 a0001c0002t0002g0018 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0025 a0001c0002t0002g0027 a0001c0002t0002g0029 a0001c0002t0002g0032 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0049 a0001c0002t0002g0052 a0001c0002t0002g0057 a0001c0002t0002g0063 a0001c0002t0002g0157 a0001c0002t0003g0003 a0001c0002t0003g0022 a0001c0002t0003g0024 a0001c0002t0003g0031 a0001c0002t0003g0038 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0060 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0069 a0001c0002t0003g0158 a0001c0002t0003g0190 a0001c0002t0003g0199 a0001c0002t0004g0005 a0001c0002t0004g0008 a0001c0002t0004g0050 a0001c0002t0004g0068 a0001c0002t0004g0074 a0001c0002t0004g0197 a0001c0002t0005g0071 a0001c0002t0005g0072 a0001c0002t0005g0073 a0001c0002t0005g0160 a0001c0002t0005g0196 a0001c0002t0006g0023 a0001c0002t0006g0065 a0001c0002t0006g0198 a0001c0002t0007g0042 a0001c0002t0007g0043 a0001c0002t0007g0064 a0001c0002t0007g0159 a0001c0002t0009g0002 a0001c0004t0005g0070 a0001c0004t0005g0075 a0001c0005t0001g0047	79	202	0.3911	c.48T others(2): Show c.48T>C	p.Ser others(5): Show p.Ser16Ser	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	1/6	85/2136	48/717	16/238	chr6	TogoVar
AIG1_chr6_143055889_143346058	143165177	C C	T T	synonymous_variant synonymous_variant	LOW	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0135 a0001c0006t0001g0135	1	202	0.0050	c.393 others(3): Show c.393C>T	p.His others(6): Show p.His131His	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	3/6	430/2136	393/717	131/238	chr6	TogoVar
AIG1_chr6_143055889_143346058	143284124	G G	A A	synonymous_variant synonymous_variant	LOW	HG02280.hp1 HG02486.hp2 HG03225.hp2 others(2): Show HG02280.hp1 HG02486.hp2 HG03225.hp2 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0005 a0001c0004t0005 a0001c0003t0005 a0001c0004t0005	a0001c0003t0005g0079 a0001c0003t0005g0124 a0001c0003t0005g0200 others(2): Show a0001c0003t0005g0079 a0001c0003t0005g0124 a0001c0003t0005g0200 a0001c0004t0005g0070 a0001c0004t0005g0075	5	202	0.0248	c.414 others(3): Show c.414G>A	p.Leu others(6): Show p.Leu138Leu	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	4/6	451/2136	414/717	138/238	chr6	TogoVar
AIG1_chr6_143055889_143346058	143284154	G G	A A	synonymous_variant synonymous_variant	LOW	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0047 a0001c0005t0001g0047	1	202	0.0050	c.444 others(3): Show c.444G>A	p.Ser others(6): Show p.Ser148Ser	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	4/6	481/2136	444/717	148/238	chr6	TogoVar
AIM2_chr1_159057484_159081766	159065931	A A	G G	synonymous_variant synonymous_variant	LOW	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0108 a0001c0008t0001g0108	1	392	0.0026	c.795 others(3): Show c.795T>C	p.Asn others(6): Show p.Asn265Asn	AIM2	ENSG00000163568.16	transcript	ENST00000368130.9	protein_coding	4/6	949/1394	795/1032	265/343	chr1	TogoVar
AIM2_chr1_159057484_159081766	159065976	C C	A A	synonymous_variant synonymous_variant	LOW	HG03225.hp2 HG03453.hp2 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0147 a0001c0004t0003g0149 a0001c0004t0003g0147 a0001c0004t0003g0149	2	392	0.0051	c.750 others(3): Show c.750G>T	p.Pro others(6): Show p.Pro250Pro	AIM2	ENSG00000163568.16	transcript	ENST00000368130.9	protein_coding	4/6	904/1394	750/1032	250/343	chr1	TogoVar
AIM2_chr1_159057484_159081766	159073251	C C	T T	synonymous_variant synonymous_variant	LOW	HG03225.hp1 HG03516.hp2 HG03579.hp1 others(1): Show HG03225.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0077 a0001c0003t0002g0155 a0001c0003t0002g0168 others(1): Show a0001c0003t0001g0077 a0001c0003t0002g0155 a0001c0003t0002g0168 a0001c0003t0002g0170	4	392	0.0102	c.249 others(3): Show c.249G>A	p.Glu others(5): Show p.Glu83Glu	AIM2	ENSG00000163568.16	transcript	ENST00000368130.9	protein_coding	2/6	403/1394	249/1032	83/343	chr1	TogoVar
AIMP1_chr4_106311550_106354456	106325033	G G	C C	synonymous_variant synonymous_variant	LOW	HG00323.hp2 HG01358.hp1 NA20805.hp1 HG00323.hp2 HG01358.hp1 NA20805.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0002 a0001c0005t0001g0007 a0001c0005t0001g0002 a0001c0005t0001g0007	3	382	0.0079	c.24G others(2): Show c.24G>C	p.Leu others(4): Show p.Leu8Leu	AIMP1	ENSG00000164022.18	transcript	ENST00000672341.1	protein_coding	2/7	94/2773	24/939	8/312	chr4	TogoVar
AIMP1_chr4_106311550_106354456	106328209	C C	T T	synonymous_variant synonymous_variant	LOW	HG02809.hp2 HG02976.hp2 HG02809.hp2 HG02976.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0041 a0001c0006t0001g0181 a0001c0006t0001g0041 a0001c0006t0001g0181	2	382	0.0052	c.357 others(3): Show c.357C>T	p.Asp others(6): Show p.Asp119Asp	AIMP1	ENSG00000164022.18	transcript	ENST00000672341.1	protein_coding	4/7	427/2773	357/939	119/312	chr4	TogoVar
AIMP2_chr7_6004272_6028834	6015280	C C	T T	synonymous_variant synonymous_variant	LOW	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0339 a0001c0008t0002g0339	1	440	0.0023	c.270 others(3): Show c.270C>T	p.Thr others(5): Show p.Thr90Thr	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	2/4	362/1198	270/963	90/320	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6017933	G G	T T	synonymous_variant synonymous_variant	LOW	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0339 a0001c0008t0002g0339	1	440	0.0023	c.462 others(3): Show c.462G>T	p.Thr others(6): Show p.Thr154Thr	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	3/4	554/1198	462/963	154/320	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6023652	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(146): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp2 HG03139.hp2 HG03471.hp2 HG03491.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0002 a0007c0004 a0008c0010 a0001c0002 a0007c0004 a0008c0010	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0007c0004t0001 a0008c0010t0001	a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0010 others(123): Show a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0042 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0149 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0191 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0214 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0227 a0001c0002t0001g0229 a0001c0002t0001g0235 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0249 a0001c0002t0001g0252 a0001c0002t0001g0265 a0001c0002t0001g0361 a0001c0002t0001g0362 a0001c0002t0002g0051 a0001c0002t0008g0042 a0007c0004t0001g0126 a0008c0010t0001g0079	149	440	0.3386	c.924 others(3): Show c.924C>T	p.Asn others(6): Show p.Asn308Asn	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	4/4	1016/1198	924/963	308/320	chr7	TogoVar
AIPL1_chr17_6418738_6440121	6426634	A A	G G	synonymous_variant synonymous_variant	LOW	HG02818.hp1 HG02818.hp2 HG02818.hp1 HG02818.hp2	a0001 a0005 a0001 a0005	a0001c0015 a0005c0016 a0001c0015 a0005c0016	a0001c0015t0067 a0005c0016t0018 a0001c0015t0067 a0005c0016t0018	a0001c0015t0067g0065 a0005c0016t0018g0181 a0001c0015t0067g0065 a0005c0016t0018g0181	2	452	0.0044	c.765 others(3): Show c.765T>C	p.Asp others(6): Show p.Asp255Asp	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	5/6	782/2894	765/1155	255/384	chr17	TogoVar
AIPL1_chr17_6418738_6440121	6426748	T T	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(310): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18976.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010	a0001c0002 a0001c0004 a0001c0015 others(11): Show a0001c0002 a0001c0004 a0001c0015 a0001c0017 a0002c0003 a0002c0008 a0003c0005 a0004c0006 a0004c0013 a0005c0016 a0006c0018 a0008c0009 a0009c0011 a0010c0014	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(71): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0017 a0001c0002t0018 a0001c0002t0021 a0001c0002t0023 a0001c0002t0024 a0001c0002t0030 a0001c0002t0031 a0001c0002t0036 a0001c0002t0038 a0001c0002t0039 a0001c0002t0041 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0054 a0001c0002t0057 a0001c0002t0064 a0001c0002t0065 a0001c0002t0066 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0004t0006 a0001c0004t0009 a0001c0004t0011 a0001c0004t0013 a0001c0004t0016 a0001c0004t0020 a0001c0004t0023 a0001c0004t0024 a0001c0004t0030 a0001c0004t0032 a0001c0004t0033 a0001c0004t0040 a0001c0004t0042 a0001c0004t0048 a0001c0004t0056 a0001c0004t0061 a0001c0004t0062 a0001c0015t0067 a0001c0017t0003 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0012 a0002c0003t0014 a0002c0003t0019 a0002c0003t0023 a0002c0003t0027 a0002c0003t0034 a0002c0003t0058 a0002c0003t0059 a0002c0003t0060 a0002c0003t0069 a0002c0008t0005 a0003c0005t0014 a0003c0005t0018 a0003c0005t0035 a0004c0006t0037 a0004c0013t0068 a0005c0016t0018 a0006c0018t0063 a0008c0009t0001 a0009c0011t0020 a0010c0014t0015	a0001c0002t0001g0015 a0001c0002t0001g0040 a0001c0002t0001g0047 others(206): Show a0001c0002t0001g0015 a0001c0002t0001g0040 a0001c0002t0001g0047 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0172 a0001c0002t0001g0197 a0001c0002t0002g0154 a0001c0002t0003g0001 a0001c0002t0003g0010 a0001c0002t0003g0023 a0001c0002t0003g0039 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0046 a0001c0002t0003g0070 a0001c0002t0003g0134 a0001c0002t0003g0146 a0001c0002t0003g0149 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0203 a0001c0002t0003g0265 a0001c0002t0007g0064 a0001c0002t0007g0276 a0001c0002t0007g0282 a0001c0002t0007g0283 a0001c0002t0007g0285 a0001c0002t0007g0287 a0001c0002t0007g0288 a0001c0002t0007g0289 a0001c0002t0007g0291 a0001c0002t0009g0171 a0001c0002t0012g0011 a0001c0002t0012g0137 a0001c0002t0012g0138 a0001c0002t0012g0178 a0001c0002t0013g0014 a0001c0002t0013g0150 a0001c0002t0013g0160 a0001c0002t0013g0175 a0001c0002t0013g0275 a0001c0002t0014g0043 a0001c0002t0015g0030 a0001c0002t0015g0066 a0001c0002t0015g0067 a0001c0002t0015g0281 a0001c0002t0017g0280 a0001c0002t0017g0284 a0001c0002t0017g0290 a0001c0002t0017g0292 a0001c0002t0018g0162 a0001c0002t0018g0163 a0001c0002t0021g0045 a0001c0002t0021g0133 a0001c0002t0021g0156 a0001c0002t0023g0277 a0001c0002t0024g0166 a0001c0002t0030g0165 a0001c0002t0031g0157 a0001c0002t0031g0167 a0001c0002t0036g0044 a0001c0002t0038g0142 a0001c0002t0038g0153 a0001c0002t0039g0286 a0001c0002t0041g0278 a0001c0002t0045g0161 a0001c0002t0046g0168 a0001c0002t0047g0169 a0001c0002t0054g0158 a0001c0002t0057g0155 a0001c0002t0064g0135 a0001c0002t0065g0248 a0001c0002t0066g0170 a0001c0004t0002g0272 a0001c0004t0002g0273 a0001c0004t0003g0205 a0001c0004t0005g0025 a0001c0004t0005g0052 a0001c0004t0005g0141 a0001c0004t0005g0212 a0001c0004t0005g0213 a0001c0004t0005g0215 a0001c0004t0005g0217 a0001c0004t0005g0219 a0001c0004t0005g0221 a0001c0004t0005g0222 a0001c0004t0005g0223 a0001c0004t0005g0225 a0001c0004t0006g0076 a0001c0004t0006g0078 a0001c0004t0009g0016 a0001c0004t0009g0024 a0001c0004t0009g0069 a0001c0004t0009g0136 a0001c0004t0011g0017 a0001c0004t0011g0182 a0001c0004t0011g0187 a0001c0004t0011g0190 a0001c0004t0011g0193 a0001c0004t0011g0194 a0001c0004t0011g0211 a0001c0004t0013g0247 a0001c0004t0016g0032 a0001c0004t0016g0075 a0001c0004t0016g0077 a0001c0004t0016g0079 a0001c0004t0016g0130 a0001c0004t0020g0183 a0001c0004t0020g0214 a0001c0004t0020g0216 a0001c0004t0023g0231 a0001c0004t0024g0048 a0001c0004t0030g0164 a0001c0004t0032g0188 a0001c0004t0032g0192 a0001c0004t0033g0226 a0001c0004t0033g0227 a0001c0004t0040g0249 a0001c0004t0042g0080 a0001c0004t0048g0132 a0001c0004t0056g0189 a0001c0004t0061g0224 a0001c0004t0062g0220 a0001c0015t0067g0065 a0001c0017t0003g0176 a0002c0003t0001g0002 a0002c0003t0001g0004 a0002c0003t0001g0006 a0002c0003t0001g0009 a0002c0003t0001g0013 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0031 a0002c0003t0001g0033 a0002c0003t0001g0035 a0002c0003t0001g0037 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0089 a0002c0003t0001g0092 a0002c0003t0001g0095 a0002c0003t0001g0098 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0109 a0002c0003t0001g0110 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0117 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0123 a0002c0003t0001g0125 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0131 a0002c0003t0003g0034 a0002c0003t0003g0036 a0002c0003t0003g0090 a0002c0003t0003g0096 a0002c0003t0003g0097 a0002c0003t0003g0101 a0002c0003t0003g0108 a0002c0003t0003g0122 a0002c0003t0004g0124 a0002c0003t0012g0093 a0002c0003t0014g0022 a0002c0003t0014g0088 a0002c0003t0019g0091 a0002c0003t0019g0100 a0002c0003t0019g0112 a0002c0003t0019g0121 a0002c0003t0023g0094 a0002c0003t0027g0071 a0002c0003t0027g0099 a0002c0003t0027g0111 a0002c0003t0034g0038 a0002c0003t0058g0118 a0002c0003t0059g0102 a0002c0003t0060g0103 a0002c0003t0069g0104 a0002c0008t0005g0105 a0003c0005t0014g0184 a0003c0005t0018g0185 a0003c0005t0035g0186 a0003c0005t0035g0196 a0004c0006t0037g0029 a0004c0013t0068g0233 a0005c0016t0018g0181 a0006c0018t0063g0068 a0008c0009t0001g0126 a0009c0011t0020g0218 a0010c0014t0015g0279	313	452	0.6925	c.651 others(3): Show c.651A>G	p.Pro others(6): Show p.Pro217Pro	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	5/6	668/2894	651/1155	217/384	chr17	TogoVar
AIPL1_chr17_6418738_6440121	6428465	C C	T T	synonymous_variant synonymous_variant	LOW	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0206 a0001c0010t0002g0206	1	452	0.0022	c.318 others(3): Show c.318G>A	p.Gln others(6): Show p.Gln106Gln	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	3/6	335/2894	318/1155	106/384	chr17	TogoVar
AIPL1_chr17_6418738_6440121	6428483	T T	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(244): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp1 NA18976.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010	a0001c0002 a0001c0015 a0001c0017 others(7): Show a0001c0002 a0001c0015 a0001c0017 a0002c0003 a0003c0005 a0004c0006 a0005c0016 a0006c0018 a0008c0009 a0010c0014	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(48): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0017 a0001c0002t0018 a0001c0002t0021 a0001c0002t0023 a0001c0002t0024 a0001c0002t0030 a0001c0002t0031 a0001c0002t0036 a0001c0002t0038 a0001c0002t0039 a0001c0002t0041 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0054 a0001c0002t0057 a0001c0002t0064 a0001c0002t0065 a0001c0002t0066 a0001c0015t0067 a0001c0017t0003 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0012 a0002c0003t0014 a0002c0003t0019 a0002c0003t0023 a0002c0003t0027 a0002c0003t0034 a0002c0003t0058 a0002c0003t0059 a0002c0003t0060 a0002c0003t0069 a0003c0005t0014 a0003c0005t0018 a0003c0005t0035 a0004c0006t0037 a0005c0016t0018 a0006c0018t0063 a0008c0009t0001 a0010c0014t0015	a0001c0002t0001g0015 a0001c0002t0001g0040 a0001c0002t0001g0047 others(153): Show a0001c0002t0001g0015 a0001c0002t0001g0040 a0001c0002t0001g0047 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0172 a0001c0002t0001g0197 a0001c0002t0002g0154 a0001c0002t0003g0001 a0001c0002t0003g0010 a0001c0002t0003g0023 a0001c0002t0003g0039 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0046 a0001c0002t0003g0070 a0001c0002t0003g0134 a0001c0002t0003g0146 a0001c0002t0003g0149 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0203 a0001c0002t0003g0265 a0001c0002t0007g0064 a0001c0002t0007g0276 a0001c0002t0007g0282 a0001c0002t0007g0283 a0001c0002t0007g0285 a0001c0002t0007g0287 a0001c0002t0007g0288 a0001c0002t0007g0289 a0001c0002t0007g0291 a0001c0002t0009g0171 a0001c0002t0012g0011 a0001c0002t0012g0137 a0001c0002t0012g0138 a0001c0002t0012g0178 a0001c0002t0013g0014 a0001c0002t0013g0150 a0001c0002t0013g0160 a0001c0002t0013g0175 a0001c0002t0013g0275 a0001c0002t0014g0043 a0001c0002t0015g0030 a0001c0002t0015g0066 a0001c0002t0015g0067 a0001c0002t0015g0281 a0001c0002t0017g0280 a0001c0002t0017g0284 a0001c0002t0017g0290 a0001c0002t0017g0292 a0001c0002t0018g0162 a0001c0002t0018g0163 a0001c0002t0021g0045 a0001c0002t0021g0133 a0001c0002t0021g0156 a0001c0002t0023g0277 a0001c0002t0024g0166 a0001c0002t0030g0165 a0001c0002t0031g0157 a0001c0002t0031g0167 a0001c0002t0036g0044 a0001c0002t0038g0142 a0001c0002t0038g0153 a0001c0002t0039g0286 a0001c0002t0041g0278 a0001c0002t0045g0161 a0001c0002t0046g0168 a0001c0002t0047g0169 a0001c0002t0054g0158 a0001c0002t0057g0155 a0001c0002t0064g0135 a0001c0002t0065g0248 a0001c0002t0066g0170 a0001c0015t0067g0065 a0001c0017t0003g0176 a0002c0003t0001g0002 a0002c0003t0001g0004 a0002c0003t0001g0006 a0002c0003t0001g0009 a0002c0003t0001g0013 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0031 a0002c0003t0001g0033 a0002c0003t0001g0035 a0002c0003t0001g0037 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0089 a0002c0003t0001g0092 a0002c0003t0001g0095 a0002c0003t0001g0098 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0109 a0002c0003t0001g0110 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0117 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0123 a0002c0003t0001g0125 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0131 a0002c0003t0003g0034 a0002c0003t0003g0036 a0002c0003t0003g0090 a0002c0003t0003g0096 a0002c0003t0003g0097 a0002c0003t0003g0101 a0002c0003t0003g0108 a0002c0003t0003g0122 a0002c0003t0004g0124 a0002c0003t0012g0093 a0002c0003t0014g0022 a0002c0003t0014g0088 a0002c0003t0019g0091 a0002c0003t0019g0100 a0002c0003t0019g0112 a0002c0003t0019g0121 a0002c0003t0023g0094 a0002c0003t0027g0071 a0002c0003t0027g0099 a0002c0003t0027g0111 a0002c0003t0034g0038 a0002c0003t0058g0118 a0002c0003t0059g0102 a0002c0003t0060g0103 a0002c0003t0069g0104 a0003c0005t0014g0184 a0003c0005t0018g0185 a0003c0005t0035g0186 a0003c0005t0035g0196 a0004c0006t0037g0029 a0005c0016t0018g0181 a0006c0018t0063g0068 a0008c0009t0001g0126 a0010c0014t0015g0279	247	452	0.5465	c.300 others(3): Show c.300A>G	p.Leu others(6): Show p.Leu100Leu	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	3/6	317/2894	300/1155	100/384	chr17	TogoVar
AIPL1_chr17_6418738_6440121	6433928	G G	A A	synonymous_variant synonymous_variant	LOW	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0003 a0001c0017t0003	a0001c0017t0003g0176 a0001c0017t0003g0176	1	452	0.0022	c.267 others(3): Show c.267C>T	p.Cys others(5): Show p.Cys89Cys	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	2/6	284/2894	267/1155	89/384	chr17	TogoVar
AIP_chr11_67478026_67496103	67487038	C C	T T	synonymous_variant synonymous_variant	LOW	HG02615.hp2 HG02818.hp1 HG02922.hp1 others(4): Show HG02615.hp2 HG02818.hp1 HG02922.hp1 HG03516.hp1 HG03540.hp2 NA19043.hp2 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0009 a0002c0004t0001g0051 a0002c0004t0001g0009 a0002c0004t0001g0051	7	340	0.0206	c.132 others(3): Show c.132C>T	p.Asp others(5): Show p.Asp44Asp	AIP	ENSG00000110711.11	transcript	ENST00000279146.8	protein_coding	2/6	265/1236	132/993	44/330	chr11	TogoVar
AIP_chr11_67478026_67496103	67490085	C C	T T	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG00558.hp1 HG00558.hp2 others(43): Show HG00140.hp2 HG00558.hp1 HG00558.hp2 HG01109.hp1 HG01928.hp2 HG01981.hp1 HG02135.hp1 HG02165.hp2 HG02602.hp2 HG02622.hp2 HG02809.hp1 HG03654.hp1 NA18522.hp1 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18946.hp2 NA18950.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18975.hp1 NA18982.hp1 NA18983.hp2 NA18995.hp1 NA18997.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19011.hp1 NA19055.hp2 NA19060.hp2 NA19065.hp2 NA19067.hp1 NA19074.hp1 NA19077.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19089.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0006 a0001c0003t0001g0008 others(5): Show a0001c0003t0001g0003 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0039 a0001c0003t0001g0050 a0001c0003t0001g0053	46	340	0.1353	c.516 others(3): Show c.516C>T	p.Asp others(6): Show p.Asp172Asp	AIP	ENSG00000110711.11	transcript	ENST00000279146.8	protein_coding	4/6	649/1236	516/993	172/330	chr11	TogoVar
AIP_chr11_67478026_67496103	67490381	C C	T T	synonymous_variant synonymous_variant	LOW	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0032 a0001c0007t0001g0032	1	340	0.0029	c.711 others(3): Show c.711C>T	p.Tyr others(6): Show p.Tyr237Tyr	AIP	ENSG00000110711.11	transcript	ENST00000279146.8	protein_coding	5/6	844/1236	711/993	237/330	chr11	TogoVar
AIP_chr11_67478026_67496103	67490891	C C	A A	synonymous_variant synonymous_variant	LOW	HG02258.hp2 HG03579.hp2 HG02258.hp2 HG03579.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0033 a0002c0005t0003g0057 a0002c0005t0003g0033 a0002c0005t0003g0057	2	340	0.0059	c.891 others(3): Show c.891C>A	p.Ala others(6): Show p.Ala297Ala	AIP	ENSG00000110711.11	transcript	ENST00000279146.8	protein_coding	6/6	1024/1236	891/993	297/330	chr11	TogoVar
AIRE_chr21_44280876_44303648	44286105	T T	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(106): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00639.hp1 HG00673.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02886.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG03927.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19079.hp1 NA19081.hp1 NA19087.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0009 a0001c0010 a0001c0014 others(12): Show a0001c0009 a0001c0010 a0001c0014 a0001c0022 a0001c0025 a0001c0029 a0001c0030 a0002c0002 a0002c0011 a0002c0015 a0002c0026 a0002c0032 a0003c0020 a0003c0031 a0010c0033	a0001c0009t0001 a0001c0010t0001 a0001c0010t0002 others(22): Show a0001c0009t0001 a0001c0010t0001 a0001c0010t0002 a0001c0010t0003 a0001c0010t0007 a0001c0014t0001 a0001c0022t0001 a0001c0025t0003 a0001c0025t0005 a0001c0029t0001 a0001c0030t0001 a0002c0002t0001 a0002c0002t0002 a0002c0011t0001 a0002c0015t0001 a0002c0015t0002 a0002c0015t0003 a0002c0026t0001 a0002c0026t0002 a0002c0032t0001 a0003c0020t0001 a0003c0020t0005 a0003c0020t0008 a0003c0031t0005 a0010c0033t0001	a0001c0009t0001g0014 a0001c0009t0001g0028 a0001c0009t0001g0069 others(72): Show a0001c0009t0001g0014 a0001c0009t0001g0028 a0001c0009t0001g0069 a0001c0009t0001g0082 a0001c0009t0001g0092 a0001c0009t0001g0104 a0001c0009t0001g0176 a0001c0009t0001g0211 a0001c0010t0001g0062 a0001c0010t0001g0192 a0001c0010t0001g0215 a0001c0010t0001g0219 a0001c0010t0001g0222 a0001c0010t0001g0226 a0001c0010t0002g0224 a0001c0010t0003g0081 a0001c0010t0003g0223 a0001c0010t0007g0230 a0001c0014t0001g0029 a0001c0014t0001g0071 a0001c0014t0001g0072 a0001c0014t0001g0193 a0001c0014t0001g0213 a0001c0022t0001g0005 a0001c0022t0001g0045 a0001c0022t0001g0212 a0001c0025t0003g0091 a0001c0025t0005g0210 a0001c0029t0001g0073 a0001c0030t0001g0220 a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0027 a0002c0002t0001g0032 a0002c0002t0001g0043 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0214 a0002c0002t0001g0218 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0002g0057 a0002c0011t0001g0002 a0002c0011t0001g0026 a0002c0011t0001g0074 a0002c0011t0001g0195 a0002c0011t0001g0199 a0002c0011t0001g0208 a0002c0011t0001g0227 a0002c0015t0001g0011 a0002c0015t0001g0070 a0002c0015t0001g0075 a0002c0015t0001g0206 a0002c0015t0002g0216 a0002c0015t0003g0068 a0002c0015t0003g0205 a0002c0026t0001g0207 a0002c0026t0002g0037 a0002c0032t0001g0002 a0003c0020t0001g0209 a0003c0020t0001g0225 a0003c0020t0005g0229 a0003c0020t0008g0228 a0003c0031t0005g0221 a0010c0033t0001g0009	109	424	0.2571	c.99T others(2): Show c.99T>C	p.Ala others(5): Show p.Ala33Ala	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	1/14	230/2690	99/1638	33/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44287042	G G	A A	synonymous_variant synonymous_variant	LOW	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0040 a0001c0034t0001g0040	1	424	0.0024	c.372 others(3): Show c.372G>A	p.Pro others(6): Show p.Pro124Pro	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	3/14	503/2690	372/1638	124/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44288370	C C	G G	synonymous_variant synonymous_variant	LOW	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0050 a0002c0050	a0002c0050t0001 a0002c0050t0001	a0002c0050t0001g0084 a0002c0050t0001g0084	1	424	0.0024	c.564 others(3): Show c.564C>G	p.Val others(6): Show p.Val188Val	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	5/14	695/2690	564/1638	188/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44288394	C C	T T	synonymous_variant synonymous_variant	LOW	HG00733.hp1 HG00738.hp2 HG01069.hp1 others(54): Show HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01123.hp2 HG01168.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01516.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02027.hp1 HG02074.hp2 HG02155.hp2 HG02293.hp2 HG02738.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp2 NA18940.hp1 NA18941.hp1 NA18945.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19010.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp1 NA19062.hp2 NA19063.hp1 NA19067.hp2 NA19070.hp2 NA19079.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0003 a0001c0013 a0001c0019 others(6): Show a0001c0003 a0001c0013 a0001c0019 a0001c0024 a0001c0034 a0001c0048 a0001c0049 a0002c0032 a0006c0047	a0001c0003t0001 a0001c0003t0002 a0001c0013t0001 others(8): Show a0001c0003t0001 a0001c0003t0002 a0001c0013t0001 a0001c0013t0002 a0001c0019t0001 a0001c0024t0001 a0001c0034t0001 a0001c0048t0001 a0001c0049t0001 a0002c0032t0001 a0006c0047t0012	a0001c0003t0001g0008 a0001c0003t0001g0016 a0001c0003t0001g0125 others(28): Show a0001c0003t0001g0008 a0001c0003t0001g0016 a0001c0003t0001g0125 a0001c0003t0002g0003 a0001c0003t0002g0004 a0001c0003t0002g0013 a0001c0003t0002g0116 a0001c0003t0002g0119 a0001c0003t0002g0126 a0001c0003t0002g0177 a0001c0003t0002g0182 a0001c0003t0002g0185 a0001c0013t0001g0121 a0001c0013t0001g0122 a0001c0013t0002g0004 a0001c0013t0002g0024 a0001c0013t0002g0118 a0001c0013t0002g0120 a0001c0019t0001g0040 a0001c0019t0001g0041 a0001c0019t0001g0095 a0001c0019t0001g0113 a0001c0019t0001g0114 a0001c0024t0001g0041 a0001c0024t0001g0123 a0001c0024t0001g0127 a0001c0034t0001g0040 a0001c0048t0001g0001 a0001c0049t0001g0022 a0002c0032t0001g0002 a0006c0047t0012g0117	57	424	0.1344	c.588 others(3): Show c.588C>T	p.Ser others(6): Show p.Ser196Ser	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	5/14	719/2690	588/1638	196/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44289685	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp2 HG00639.hp1 others(36): Show HG00099.hp2 HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02148.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG03239.hp2 HG03654.hp2 HG03704.hp2 NA18940.hp2 NA19062.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0001c0018 a0001c0022 others(3): Show a0001c0006 a0001c0018 a0001c0022 a0001c0028 a0001c0049 a0002c0050	a0001c0006t0001 a0001c0006t0016 a0001c0018t0001 others(6): Show a0001c0006t0001 a0001c0006t0016 a0001c0018t0001 a0001c0018t0002 a0001c0022t0001 a0001c0028t0001 a0001c0028t0014 a0001c0049t0001 a0002c0050t0001	a0001c0006t0001g0005 a0001c0006t0001g0015 a0001c0006t0001g0044 others(23): Show a0001c0006t0001g0005 a0001c0006t0001g0015 a0001c0006t0001g0044 a0001c0006t0001g0045 a0001c0006t0001g0054 a0001c0006t0001g0063 a0001c0006t0001g0106 a0001c0006t0001g0107 a0001c0006t0001g0108 a0001c0006t0001g0137 a0001c0006t0001g0143 a0001c0006t0001g0144 a0001c0006t0001g0169 a0001c0006t0016g0141 a0001c0018t0001g0022 a0001c0018t0001g0142 a0001c0018t0001g0171 a0001c0018t0001g0172 a0001c0018t0002g0111 a0001c0022t0001g0005 a0001c0022t0001g0045 a0001c0022t0001g0212 a0001c0028t0001g0170 a0001c0028t0014g0005 a0001c0049t0001g0022 a0002c0050t0001g0084	39	424	0.0920	c.681 others(3): Show c.681C>T	p.Gly others(6): Show p.Gly227Gly	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	6/14	812/2690	681/1638	227/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44289799	C C	T T	synonymous_variant synonymous_variant	LOW	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0001 a0001c0048t0001g0001	1	423	0.0024	c.795 others(3): Show c.795C>T	p.Ala others(6): Show p.Ala265Ala	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	6/14	926/2690	795/1638	265/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44293013	G G	A A	synonymous_variant synonymous_variant	LOW	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0174 a0001c0036t0001g0174	1	424	0.0024	c.111 others(4): Show c.1116G>A	p.Ser others(6): Show p.Ser372Ser	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	10/14	1247/2690	1116/1638	372/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44293055	C C	T T	synonymous_variant synonymous_variant	LOW	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0001 a0001c0043t0001	a0001c0043t0001g0166 a0001c0043t0001g0166	1	424	0.0024	c.115 others(4): Show c.1158C>T	p.Ala others(6): Show p.Ala386Ala	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	10/14	1289/2690	1158/1638	386/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44293088	G G	T T	synonymous_variant synonymous_variant	LOW	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0044 a0002c0044	a0002c0044t0001 a0002c0044t0001	a0002c0044t0001g0086 a0002c0044t0001g0086	1	424	0.0024	c.119 others(4): Show c.1191G>T	p.Leu others(6): Show p.Leu397Leu	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	10/14	1322/2690	1191/1638	397/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44293094	T T	C C	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00438.hp2 HG00558.hp1 others(146): Show HG00140.hp1 HG00438.hp2 HG00558.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18940.hp1 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0003 a0001c0004 a0001c0010 others(22): Show a0001c0003 a0001c0004 a0001c0010 a0001c0012 a0001c0016 a0001c0024 a0001c0025 a0001c0028 a0001c0029 a0001c0030 a0001c0036 a0001c0037 a0001c0038 a0002c0007 a0002c0015 a0002c0017 a0002c0021 a0002c0026 a0003c0020 a0003c0031 a0003c0046 a0004c0027 a0006c0047 a0007c0039 a0008c0045	a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 others(42): Show a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0010t0001 a0001c0010t0002 a0001c0010t0003 a0001c0010t0007 a0001c0012t0001 a0001c0012t0002 a0001c0016t0001 a0001c0016t0004 a0001c0024t0001 a0001c0025t0003 a0001c0025t0005 a0001c0028t0001 a0001c0028t0014 a0001c0029t0001 a0001c0030t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0002c0007t0001 a0002c0007t0002 a0002c0007t0003 a0002c0007t0009 a0002c0015t0001 a0002c0015t0002 a0002c0015t0003 a0002c0017t0001 a0002c0021t0002 a0002c0021t0005 a0002c0021t0010 a0002c0026t0001 a0002c0026t0002 a0003c0020t0001 a0003c0020t0005 a0003c0020t0008 a0003c0031t0005 a0003c0046t0004 a0004c0027t0002 a0006c0047t0012 a0007c0039t0007 a0008c0045t0001	a0001c0003t0001g0008 a0001c0003t0001g0016 a0001c0003t0001g0125 others(103): Show a0001c0003t0001g0008 a0001c0003t0001g0016 a0001c0003t0001g0125 a0001c0003t0002g0003 a0001c0003t0002g0004 a0001c0003t0002g0013 a0001c0003t0002g0116 a0001c0003t0002g0119 a0001c0003t0002g0126 a0001c0003t0002g0177 a0001c0003t0002g0182 a0001c0003t0002g0185 a0001c0004t0001g0023 a0001c0004t0001g0077 a0001c0004t0001g0112 a0001c0004t0002g0003 a0001c0004t0002g0008 a0001c0004t0002g0013 a0001c0004t0002g0055 a0001c0004t0002g0061 a0001c0004t0002g0168 a0001c0004t0002g0178 a0001c0004t0002g0179 a0001c0004t0002g0180 a0001c0004t0002g0181 a0001c0004t0002g0183 a0001c0004t0002g0184 a0001c0004t0002g0187 a0001c0004t0003g0025 a0001c0004t0003g0115 a0001c0004t0003g0194 a0001c0004t0003g0217 a0001c0010t0001g0062 a0001c0010t0001g0192 a0001c0010t0001g0215 a0001c0010t0001g0219 a0001c0010t0001g0222 a0001c0010t0001g0226 a0001c0010t0002g0224 a0001c0010t0003g0081 a0001c0010t0003g0223 a0001c0010t0007g0230 a0001c0012t0001g0001 a0001c0012t0001g0006 a0001c0012t0001g0039 a0001c0012t0001g0050 a0001c0012t0001g0053 a0001c0012t0001g0152 a0001c0012t0001g0165 a0001c0012t0002g0175 a0001c0016t0001g0087 a0001c0016t0001g0105 a0001c0016t0004g0030 a0001c0016t0004g0031 a0001c0016t0004g0065 a0001c0024t0001g0041 a0001c0024t0001g0123 a0001c0024t0001g0127 a0001c0025t0003g0091 a0001c0025t0005g0210 a0001c0028t0001g0170 a0001c0028t0014g0005 a0001c0029t0001g0073 a0001c0030t0001g0220 a0001c0036t0001g0174 a0001c0037t0001g0053 a0001c0038t0001g0236 a0002c0007t0001g0034 a0002c0007t0001g0076 a0002c0007t0001g0100 a0002c0007t0001g0103 a0002c0007t0001g0129 a0002c0007t0002g0033 a0002c0007t0002g0085 a0002c0007t0003g0042 a0002c0007t0003g0098 a0002c0007t0003g0101 a0002c0007t0003g0102 a0002c0007t0009g0235 a0002c0015t0001g0011 a0002c0015t0001g0070 a0002c0015t0001g0075 a0002c0015t0001g0206 a0002c0015t0002g0216 a0002c0015t0003g0068 a0002c0015t0003g0205 a0002c0017t0001g0017 a0002c0017t0001g0027 a0002c0017t0001g0099 a0002c0017t0001g0124 a0002c0021t0002g0037 a0002c0021t0005g0083 a0002c0021t0005g0133 a0002c0021t0010g0064 a0002c0026t0001g0207 a0002c0026t0002g0037 a0003c0020t0001g0209 a0003c0020t0001g0225 a0003c0020t0005g0229 a0003c0020t0008g0228 a0003c0031t0005g0221 a0003c0046t0004g0234 a0004c0027t0002g0060 a0006c0047t0012g0117 a0007c0039t0007g0186 a0008c0045t0001g0097	149	424	0.3514	c.119 others(4): Show c.1197T>C	p.Ala others(6): Show p.Ala399Ala	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	10/14	1328/2690	1197/1638	399/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44293100	T T	C C	synonymous_variant synonymous_variant	LOW	HG01081.hp2 HG01261.hp2 HG01496.hp1 others(20): Show HG01081.hp2 HG01261.hp2 HG01496.hp1 HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA19043.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0016 a0001c0025 a0001c0029 others(6): Show a0001c0016 a0001c0025 a0001c0029 a0001c0037 a0002c0021 a0002c0026 a0003c0020 a0003c0046 a0007c0039	a0001c0016t0001 a0001c0016t0004 a0001c0025t0003 others(13): Show a0001c0016t0001 a0001c0016t0004 a0001c0025t0003 a0001c0025t0005 a0001c0029t0001 a0001c0037t0001 a0002c0021t0002 a0002c0021t0005 a0002c0021t0010 a0002c0026t0001 a0002c0026t0002 a0003c0020t0001 a0003c0020t0005 a0003c0020t0008 a0003c0046t0004 a0007c0039t0007	a0001c0016t0001g0087 a0001c0016t0001g0105 a0001c0016t0004g0030 others(18): Show a0001c0016t0001g0087 a0001c0016t0001g0105 a0001c0016t0004g0030 a0001c0016t0004g0031 a0001c0016t0004g0065 a0001c0025t0003g0091 a0001c0025t0005g0210 a0001c0029t0001g0073 a0001c0037t0001g0053 a0002c0021t0002g0037 a0002c0021t0005g0083 a0002c0021t0005g0133 a0002c0021t0010g0064 a0002c0026t0001g0207 a0002c0026t0002g0037 a0003c0020t0001g0209 a0003c0020t0001g0225 a0003c0020t0005g0229 a0003c0020t0008g0228 a0003c0046t0004g0234 a0007c0039t0007g0186	23	424	0.0542	c.120 others(4): Show c.1203T>C	p.Pro others(6): Show p.Pro401Pro	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	10/14	1334/2690	1203/1638	401/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44293893	C C	T T	synonymous_variant synonymous_variant	LOW	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0001 a0001c0038t0001	a0001c0038t0001g0236 a0001c0038t0001g0236	1	424	0.0024	c.138 others(4): Show c.1383C>T	p.Ala others(6): Show p.Ala461Ala	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	11/14	1514/2690	1383/1638	461/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44294404	G G	A A	synonymous_variant synonymous_variant	LOW	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0001 a0001c0041t0001	a0001c0041t0001g0001 a0001c0041t0001g0001	1	424	0.0024	c.140 others(4): Show c.1404G>A	p.Thr others(6): Show p.Thr468Thr	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	12/14	1535/2690	1404/1638	468/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44294437	G G	A A	synonymous_variant synonymous_variant	LOW	HG02647.hp2 HG02647.hp2	a0008 a0008	a0008c0045 a0008c0045	a0008c0045t0001 a0008c0045t0001	a0008c0045t0001g0097 a0008c0045t0001g0097	1	424	0.0024	c.143 others(4): Show c.1437G>A	p.Val others(6): Show p.Val479Val	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	12/14	1568/2690	1437/1638	479/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44294483	C C	T T	synonymous_variant synonymous_variant	LOW	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0001 a0001c0042t0001	a0001c0042t0001g0006 a0001c0042t0001g0006	1	424	0.0024	c.148 others(4): Show c.1483C>T	p.Leu others(6): Show p.Leu495Leu	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	12/14	1614/2690	1483/1638	495/545	chr21	TogoVar
AIRE_chr21_44280876_44303648	44297667	T T	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00408.hp2 others(242): Show HG00099.hp1 HG00099.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010	a0001c0003 a0001c0004 a0001c0005 others(26): Show a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0013 a0001c0016 a0001c0018 a0001c0025 a0001c0034 a0001c0036 a0001c0038 a0001c0049 a0002c0002 a0002c0007 a0002c0008 a0002c0015 a0002c0021 a0002c0026 a0002c0032 a0002c0050 a0003c0020 a0003c0031 a0003c0046 a0004c0027 a0006c0047 a0007c0039 a0008c0045 a0010c0033	a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 others(51): Show a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0006 a0001c0009t0001 a0001c0010t0001 a0001c0010t0002 a0001c0010t0003 a0001c0010t0007 a0001c0013t0001 a0001c0013t0002 a0001c0016t0001 a0001c0016t0004 a0001c0018t0001 a0001c0018t0002 a0001c0025t0003 a0001c0025t0005 a0001c0034t0001 a0001c0036t0001 a0001c0038t0001 a0001c0049t0001 a0002c0002t0001 a0002c0002t0002 a0002c0007t0001 a0002c0007t0002 a0002c0007t0003 a0002c0007t0009 a0002c0008t0001 a0002c0008t0002 a0002c0015t0001 a0002c0015t0002 a0002c0015t0003 a0002c0021t0002 a0002c0021t0005 a0002c0021t0010 a0002c0026t0001 a0002c0026t0002 a0002c0032t0001 a0002c0050t0001 a0003c0020t0001 a0003c0020t0005 a0003c0020t0008 a0003c0031t0005 a0003c0046t0004 a0004c0027t0002 a0006c0047t0012 a0007c0039t0007 a0008c0045t0001 a0010c0033t0001	a0001c0003t0001g0008 a0001c0003t0001g0016 a0001c0003t0001g0125 others(156): Show a0001c0003t0001g0008 a0001c0003t0001g0016 a0001c0003t0001g0125 a0001c0003t0002g0003 a0001c0003t0002g0004 a0001c0003t0002g0013 a0001c0003t0002g0116 a0001c0003t0002g0119 a0001c0003t0002g0126 a0001c0003t0002g0177 a0001c0003t0002g0182 a0001c0003t0002g0185 a0001c0004t0001g0023 a0001c0004t0001g0077 a0001c0004t0001g0112 a0001c0004t0002g0003 a0001c0004t0002g0008 a0001c0004t0002g0013 a0001c0004t0002g0055 a0001c0004t0002g0061 a0001c0004t0002g0168 a0001c0004t0002g0178 a0001c0004t0002g0179 a0001c0004t0002g0180 a0001c0004t0002g0181 a0001c0004t0002g0183 a0001c0004t0002g0184 a0001c0004t0002g0187 a0001c0004t0003g0025 a0001c0004t0003g0115 a0001c0004t0003g0194 a0001c0004t0003g0217 a0001c0005t0001g0001 a0001c0005t0001g0023 a0001c0005t0001g0048 a0001c0005t0001g0049 a0001c0005t0001g0094 a0001c0005t0001g0135 a0001c0005t0001g0138 a0001c0005t0001g0149 a0001c0005t0001g0153 a0001c0005t0001g0154 a0001c0005t0001g0188 a0001c0005t0002g0019 a0001c0005t0002g0093 a0001c0005t0002g0155 a0001c0005t0004g0066 a0001c0005t0004g0067 a0001c0005t0006g0139 a0001c0005t0006g0163 a0001c0009t0001g0014 a0001c0009t0001g0028 a0001c0009t0001g0069 a0001c0009t0001g0082 a0001c0009t0001g0092 a0001c0009t0001g0104 a0001c0009t0001g0176 a0001c0009t0001g0211 a0001c0010t0001g0062 a0001c0010t0001g0192 a0001c0010t0001g0215 a0001c0010t0001g0219 a0001c0010t0001g0222 a0001c0010t0001g0226 a0001c0010t0002g0224 a0001c0010t0003g0081 a0001c0010t0003g0223 a0001c0010t0007g0230 a0001c0013t0001g0121 a0001c0013t0001g0122 a0001c0013t0002g0004 a0001c0013t0002g0024 a0001c0013t0002g0118 a0001c0013t0002g0120 a0001c0016t0001g0087 a0001c0016t0001g0105 a0001c0016t0004g0030 a0001c0016t0004g0031 a0001c0016t0004g0065 a0001c0018t0001g0022 a0001c0018t0001g0142 a0001c0018t0001g0171 a0001c0018t0001g0172 a0001c0018t0002g0111 a0001c0025t0003g0091 a0001c0025t0005g0210 a0001c0034t0001g0040 a0001c0036t0001g0174 a0001c0038t0001g0236 a0001c0049t0001g0022 a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0027 a0002c0002t0001g0032 a0002c0002t0001g0043 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0214 a0002c0002t0001g0218 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0002g0057 a0002c0007t0001g0034 a0002c0007t0001g0076 a0002c0007t0001g0100 a0002c0007t0001g0103 a0002c0007t0001g0129 a0002c0007t0002g0033 a0002c0007t0002g0085 a0002c0007t0003g0042 a0002c0007t0003g0098 a0002c0007t0003g0101 a0002c0007t0003g0102 a0002c0007t0009g0235 a0002c0008t0001g0002 a0002c0008t0001g0012 a0002c0008t0001g0035 a0002c0008t0001g0036 a0002c0008t0001g0096 a0002c0008t0001g0128 a0002c0008t0001g0131 a0002c0008t0001g0132 a0002c0008t0002g0130 a0002c0015t0001g0011 a0002c0015t0001g0070 a0002c0015t0001g0075 a0002c0015t0001g0206 a0002c0015t0002g0216 a0002c0015t0003g0068 a0002c0015t0003g0205 a0002c0021t0002g0037 a0002c0021t0005g0083 a0002c0021t0005g0133 a0002c0021t0010g0064 a0002c0026t0001g0207 a0002c0026t0002g0037 a0002c0032t0001g0002 a0002c0050t0001g0084 a0003c0020t0001g0209 a0003c0020t0001g0225 a0003c0020t0005g0229 a0003c0020t0008g0228 a0003c0031t0005g0221 a0003c0046t0004g0234 a0004c0027t0002g0060 a0006c0047t0012g0117 a0007c0039t0007g0186 a0008c0045t0001g0097 a0010c0033t0001g0009	245	424	0.5778	c.157 others(4): Show c.1578T>C	p.Asp others(6): Show p.Asp526Asp	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	14/14	1709/2690	1578/1638	526/545	chr21	TogoVar
AJAP1_chr1_4649609_4797534	4711990	C C	A A	synonymous_variant synonymous_variant	LOW	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0064 a0002c0011t0064	a0002c0011t0064g0308 a0002c0011t0064g0308	1	332	0.0030	c.120 others(3): Show c.120C>A	p.Ala others(5): Show p.Ala40Ala	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	2/6	937/12102	120/1236	40/411	chr1	TogoVar
AJAP1_chr1_4649609_4797534	4711993	T T	C C	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00323.hp2 HG00408.hp2 others(164): Show HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18985.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010	a0001c0002 a0001c0005 a0002c0004 others(9): Show a0001c0002 a0001c0005 a0002c0004 a0002c0012 a0002c0016 a0003c0009 a0004c0006 a0005c0010 a0007c0013 a0008c0021 a0009c0015 a0010c0014	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(111): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0017 a0001c0002t0019 a0001c0002t0022 a0001c0002t0024 a0001c0002t0026 a0001c0002t0031 a0001c0002t0033 a0001c0002t0038 a0001c0002t0042 a0001c0002t0049 a0001c0002t0057 a0001c0002t0061 a0001c0002t0063 a0001c0002t0073 a0001c0002t0074 a0001c0002t0075 a0001c0002t0076 a0001c0002t0082 a0001c0002t0083 a0001c0002t0086 a0001c0002t0087 a0001c0002t0088 a0001c0002t0089 a0001c0002t0099 a0001c0002t0100 a0001c0002t0102 a0001c0002t0104 a0001c0002t0105 a0001c0002t0107 a0001c0002t0111 a0001c0002t0112 a0001c0002t0115 a0001c0002t0118 a0001c0002t0127 a0001c0002t0128 a0001c0002t0129 a0001c0002t0135 a0001c0002t0137 a0001c0002t0139 a0001c0002t0146 a0001c0002t0147 a0001c0002t0150 a0001c0002t0151 a0001c0002t0152 a0001c0002t0163 a0001c0002t0176 a0001c0002t0179 a0001c0002t0180 a0001c0002t0184 a0001c0002t0188 a0001c0005t0001 a0001c0005t0002 a0001c0005t0009 a0001c0005t0027 a0001c0005t0038 a0001c0005t0094 a0001c0005t0130 a0001c0005t0185 a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 a0002c0004t0006 a0002c0004t0009 a0002c0004t0010 a0002c0004t0020 a0002c0004t0024 a0002c0004t0029 a0002c0004t0032 a0002c0004t0034 a0002c0004t0039 a0002c0004t0040 a0002c0004t0044 a0002c0004t0046 a0002c0004t0048 a0002c0004t0056 a0002c0004t0071 a0002c0004t0096 a0002c0004t0097 a0002c0004t0101 a0002c0004t0122 a0002c0004t0123 a0002c0004t0125 a0002c0004t0134 a0002c0004t0148 a0002c0004t0161 a0002c0004t0169 a0002c0004t0181 a0002c0004t0183 a0002c0012t0001 a0002c0016t0001 a0003c0009t0002 a0003c0009t0119 a0004c0006t0016 a0004c0006t0069 a0004c0006t0070 a0004c0006t0072 a0004c0006t0140 a0004c0006t0162 a0005c0010t0117 a0005c0010t0132 a0007c0013t0002 a0008c0021t0004 a0009c0015t0018 a0010c0014t0001	a0001c0002t0001g0211 a0001c0002t0001g0217 a0001c0002t0001g0286 others(160): Show a0001c0002t0001g0211 a0001c0002t0001g0217 a0001c0002t0001g0286 a0001c0002t0001g0297 a0001c0002t0002g0002 a0001c0002t0002g0103 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0002g0120 a0001c0002t0003g0001 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0043 a0001c0002t0004g0305 a0001c0002t0004g0314 a0001c0002t0005g0090 a0001c0002t0005g0115 a0001c0002t0005g0246 a0001c0002t0007g0025 a0001c0002t0007g0026 a0001c0002t0009g0255 a0001c0002t0009g0261 a0001c0002t0010g0309 a0001c0002t0011g0137 a0001c0002t0011g0184 a0001c0002t0011g0235 a0001c0002t0012g0171 a0001c0002t0012g0194 a0001c0002t0012g0210 a0001c0002t0012g0239 a0001c0002t0017g0175 a0001c0002t0019g0005 a0001c0002t0019g0197 a0001c0002t0022g0098 a0001c0002t0024g0055 a0001c0002t0024g0063 a0001c0002t0026g0009 a0001c0002t0031g0086 a0001c0002t0031g0165 a0001c0002t0033g0316 a0001c0002t0038g0111 a0001c0002t0042g0029 a0001c0002t0042g0030 a0001c0002t0049g0011 a0001c0002t0057g0156 a0001c0002t0061g0300 a0001c0002t0063g0157 a0001c0002t0073g0324 a0001c0002t0074g0226 a0001c0002t0075g0225 a0001c0002t0076g0227 a0001c0002t0082g0238 a0001c0002t0083g0161 a0001c0002t0086g0136 a0001c0002t0087g0022 a0001c0002t0088g0257 a0001c0002t0089g0147 a0001c0002t0099g0230 a0001c0002t0100g0088 a0001c0002t0102g0200 a0001c0002t0104g0207 a0001c0002t0105g0213 a0001c0002t0107g0176 a0001c0002t0111g0099 a0001c0002t0112g0249 a0001c0002t0115g0247 a0001c0002t0118g0118 a0001c0002t0127g0109 a0001c0002t0128g0110 a0001c0002t0129g0106 a0001c0002t0135g0020 a0001c0002t0137g0023 a0001c0002t0139g0142 a0001c0002t0146g0033 a0001c0002t0147g0327 a0001c0002t0150g0027 a0001c0002t0151g0139 a0001c0002t0152g0326 a0001c0002t0163g0008 a0001c0002t0176g0253 a0001c0002t0179g0262 a0001c0002t0180g0259 a0001c0002t0184g0267 a0001c0002t0188g0263 a0001c0005t0001g0144 a0001c0005t0001g0155 a0001c0005t0001g0214 a0001c0005t0001g0228 a0001c0005t0001g0289 a0001c0005t0002g0101 a0001c0005t0002g0245 a0001c0005t0009g0320 a0001c0005t0027g0152 a0001c0005t0027g0153 a0001c0005t0038g0122 a0001c0005t0094g0288 a0001c0005t0130g0107 a0001c0005t0185g0270 a0002c0004t0001g0193 a0002c0004t0001g0220 a0002c0004t0001g0293 a0002c0004t0001g0294 a0002c0004t0002g0084 a0002c0004t0002g0100 a0002c0004t0002g0124 a0002c0004t0002g0138 a0002c0004t0002g0243 a0002c0004t0002g0313 a0002c0004t0005g0003 a0002c0004t0005g0024 a0002c0004t0005g0105 a0002c0004t0006g0191 a0002c0004t0006g0231 a0002c0004t0009g0264 a0002c0004t0010g0151 a0002c0004t0010g0208 a0002c0004t0020g0209 a0002c0004t0020g0315 a0002c0004t0024g0048 a0002c0004t0029g0163 a0002c0004t0032g0282 a0002c0004t0032g0283 a0002c0004t0034g0192 a0002c0004t0034g0219 a0002c0004t0039g0073 a0002c0004t0039g0112 a0002c0004t0040g0065 a0002c0004t0044g0277 a0002c0004t0046g0266 a0002c0004t0048g0082 a0002c0004t0056g0216 a0002c0004t0071g0302 a0002c0004t0096g0166 a0002c0004t0097g0233 a0002c0004t0101g0303 a0002c0004t0122g0104 a0002c0004t0123g0089 a0002c0004t0125g0083 a0002c0004t0134g0042 a0002c0004t0148g0069 a0002c0004t0161g0052 a0002c0004t0169g0178 a0002c0004t0181g0265 a0002c0004t0183g0274 a0002c0012t0001g0232 a0002c0016t0001g0221 a0003c0009t0002g0119 a0003c0009t0119g0241 a0004c0006t0016g0108 a0004c0006t0016g0204 a0004c0006t0069g0236 a0004c0006t0070g0237 a0004c0006t0072g0185 a0004c0006t0140g0328 a0004c0006t0162g0007 a0005c0010t0117g0133 a0005c0010t0132g0028 a0007c0013t0002g0132 a0008c0021t0004g0148 a0009c0015t0018g0150 a0010c0014t0001g0218	167	332	0.5030	c.123 others(3): Show c.123T>C	p.Cys others(5): Show p.Cys41Cys	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	2/6	940/12102	123/1236	41/411	chr1	TogoVar
AJAP1_chr1_4649609_4797534	4712095	G G	A A	synonymous_variant synonymous_variant	LOW	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0232 a0002c0012t0001g0232	1	332	0.0030	c.225 others(3): Show c.225G>A	p.Pro others(5): Show p.Pro75Pro	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	2/6	1042/12102	225/1236	75/411	chr1	TogoVar
AJAP1_chr1_4649609_4797534	4712320	C C	G G	synonymous_variant synonymous_variant	LOW	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0221 a0002c0016t0001g0221	1	332	0.0030	c.450 others(3): Show c.450C>G	p.Ala others(6): Show p.Ala150Ala	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	2/6	1267/12102	450/1236	150/411	chr1	TogoVar

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