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
ACY3_chr11_67637555_67655730	67647021	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19059.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(76): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0004g0010 a0001c0001t0004g0017 a0001c0001t0004g0050 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0006g0002 a0001c0001t0006g0008 a0001c0001t0006g0039 a0001c0001t0007g0048 a0001c0001t0008g0057 a0001c0001t0009g0058 a0001c0001t0011g0073 a0001c0006t0001g0094 a0001c0007t0001g0075 a0001c0008t0001g0078	266	394	0.6751	c.23G others(2): Show c.23G>A	p.Arg others(4): Show p.Arg8Gln	ACY3	ENSG00000132744.8	transcript	ENST00000255082.8	protein_coding	3/8	265/1371	23/960	8/319	chr11	TogoVar
ACYP2_chr2_53966113_54310300	54135454	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02109.hp2 HG02976.hp1 HG02109.hp2 HG02976.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0005 a0003c0004t0007g0006 a0003c0004t0007g0005 a0003c0004t0007g0006	2	270	0.0074	c.279 others(3): Show c.279T>A	p.Ser others(5): Show p.Ser93Arg	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	5/7	524/1262	279/519	93/172	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54304693	C C	G G	missense_variant missense_variant	MODERATE	NA18940.hp1 NA18940.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0201 a0004c0006t0001g0201	1	270	0.0037	c.410 others(3): Show c.410C>G	p.Ser others(6): Show p.Ser137Cys	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	7/7	655/1262	410/519	137/172	chr2	TogoVar
ADA2_chr22_17173790_17224435	17188355	G G	T T	missense_variant missense_variant	MODERATE	NA18959.hp1 NA18959.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0169 a0005c0010t0001g0169	1	406	0.0025	c.106 others(4): Show c.1065C>A	p.Phe others(6): Show p.Phe355Leu	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/10	1191/4355	1065/1536	355/511	chr22	TogoVar
ADA2_chr22_17173790_17224435	17188416	T T	C C	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(119): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03927.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18950.hp1 NA18957.hp2 NA18959.hp2 NA18963.hp2 NA18967.hp2 NA18977.hp2 NA18978.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18993.hp1 NA18997.hp1 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19060.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp2 NA19081.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0012 a0002c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(38): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0001t0034 a0001c0001t0041 a0001c0001t0044 a0001c0001t0051 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0017 a0001c0002t0029 a0001c0002t0031 a0001c0002t0033 a0001c0002t0046 a0001c0002t0050 a0001c0003t0001 a0001c0003t0003 a0001c0003t0007 a0001c0003t0008 a0001c0003t0009 a0001c0003t0030 a0001c0004t0002 a0001c0004t0006 a0001c0004t0014 a0001c0005t0002 a0001c0005t0006 a0001c0005t0018 a0001c0005t0043 a0001c0007t0014 a0001c0012t0014 a0002c0014t0007	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0025 others(116): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0081 a0001c0001t0001g0159 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0250 a0001c0001t0001g0270 a0001c0001t0001g0278 a0001c0001t0001g0310 a0001c0001t0001g0315 a0001c0001t0003g0027 a0001c0001t0003g0033 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0082 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0173 a0001c0001t0003g0211 a0001c0001t0003g0264 a0001c0001t0003g0276 a0001c0001t0003g0297 a0001c0001t0007g0053 a0001c0001t0007g0287 a0001c0001t0007g0316 a0001c0001t0008g0352 a0001c0001t0008g0373 a0001c0001t0009g0031 a0001c0001t0009g0165 a0001c0001t0009g0177 a0001c0001t0009g0180 a0001c0001t0009g0272 a0001c0001t0009g0290 a0001c0001t0010g0036 a0001c0001t0010g0070 a0001c0001t0010g0202 a0001c0001t0010g0204 a0001c0001t0010g0206 a0001c0001t0010g0207 a0001c0001t0010g0215 a0001c0001t0012g0009 a0001c0001t0013g0185 a0001c0001t0017g0038 a0001c0001t0020g0388 a0001c0001t0020g0397 a0001c0001t0034g0249 a0001c0001t0041g0328 a0001c0001t0044g0326 a0001c0001t0051g0329 a0001c0002t0003g0041 a0001c0002t0003g0068 a0001c0002t0003g0089 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0134 a0001c0002t0003g0244 a0001c0002t0003g0312 a0001c0002t0004g0359 a0001c0002t0004g0367 a0001c0002t0007g0024 a0001c0002t0007g0123 a0001c0002t0008g0327 a0001c0002t0008g0343 a0001c0002t0008g0357 a0001c0002t0008g0360 a0001c0002t0008g0365 a0001c0002t0010g0091 a0001c0002t0010g0301 a0001c0002t0017g0022 a0001c0002t0017g0216 a0001c0002t0029g0186 a0001c0002t0031g0087 a0001c0002t0033g0245 a0001c0002t0046g0366 a0001c0002t0050g0341 a0001c0003t0001g0003 a0001c0003t0001g0124 a0001c0003t0001g0142 a0001c0003t0001g0254 a0001c0003t0003g0084 a0001c0003t0003g0101 a0001c0003t0003g0253 a0001c0003t0003g0256 a0001c0003t0007g0077 a0001c0003t0007g0131 a0001c0003t0007g0132 a0001c0003t0007g0144 a0001c0003t0007g0197 a0001c0003t0008g0390 a0001c0003t0008g0400 a0001c0003t0009g0143 a0001c0003t0009g0190 a0001c0003t0009g0235 a0001c0003t0030g0188 a0001c0004t0002g0049 a0001c0004t0002g0058 a0001c0004t0002g0092 a0001c0004t0002g0208 a0001c0004t0002g0280 a0001c0004t0002g0298 a0001c0004t0002g0302 a0001c0004t0006g0379 a0001c0004t0014g0026 a0001c0005t0002g0023 a0001c0005t0002g0133 a0001c0005t0006g0339 a0001c0005t0018g0029 a0001c0005t0043g0398 a0001c0007t0014g0019 a0001c0007t0014g0051 a0001c0012t0014g0088 a0002c0014t0007g0057	122	406	0.3005	c.100 others(4): Show c.1004A>G	p.His others(6): Show p.His335Arg	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/10	1130/4355	1004/1536	335/511	chr22	TogoVar
ADA2_chr22_17173790_17224435	17203627	C C	T T	missense_variant missense_variant	MODERATE	HG02698.hp2 HG02698.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0004 a0004c0009t0004	a0004c0009t0004g0389 a0004c0009t0004g0389	1	406	0.0025	c.689 others(3): Show c.689G>A	p.Arg others(6): Show p.Arg230Gln	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	4/10	815/4355	689/1536	230/511	chr22	TogoVar
ADA2_chr22_17173790_17224435	17209581	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0007 a0002c0014t0007	a0002c0014t0007g0057 a0002c0014t0007g0057	1	406	0.0025	c.97A others(2): Show c.97A>G	p.Thr others(5): Show p.Thr33Ala	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	2/10	223/4355	97/1536	33/511	chr22	TogoVar
ADAD1_chr4_122374011_122434784	122383949	G G	A A	missense_variant missense_variant	MODERATE	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0001 a0003c0005t0001g0001	1	374	0.0027	c.512 others(3): Show c.512G>A	p.Arg others(6): Show p.Arg171Gln	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding	5/13	699/1963	512/1731	171/576	chr4	TogoVar
ADAD1_chr4_122374011_122434784	122411349	A A	G G	missense_variant missense_variant	MODERATE	NA19003.hp2 NA19003.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0025 a0005c0008t0001g0025	1	374	0.0027	c.976 others(3): Show c.976A>G	p.Met others(6): Show p.Met326Val	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding	9/13	1163/1963	976/1731	326/576	chr4	TogoVar
ADAD1_chr4_122374011_122434784	122412618	A A	G G	missense_variant missense_variant	MODERATE	HG04228.hp1 HG04228.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0096 a0004c0007t0001g0096	1	374	0.0027	c.105 others(4): Show c.1058A>G	p.Asn others(6): Show p.Asn353Ser	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding	10/13	1245/1963	1058/1731	353/576	chr4	TogoVar
ADAD1_chr4_122374011_122434784	122415570	G G	T T	missense_variant missense_variant	MODERATE	HG00597.hp2 NA18954.hp2 HG00597.hp2 NA18954.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0272 a0002c0003t0001g0274 a0002c0003t0001g0272 a0002c0003t0001g0274	2	374	0.0053	c.144 others(4): Show c.1441G>T	p.Val others(6): Show p.Val481Phe	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding	11/13	1628/1963	1441/1731	481/576	chr4	TogoVar
ADAD2_chr16_84186157_84202166	84191283	G G	A A	missense_variant missense_variant	MODERATE	HG01243.hp1 NA18906.hp2 HG01243.hp1 NA18906.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0030 a0008c0014t0001g0030	2	468	0.0043	c.53G others(2): Show c.53G>A	p.Arg others(5): Show p.Arg18His	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	1/10	127/2018	53/1752	18/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84191295	C C	T T	missense_variant missense_variant	MODERATE	HG01891.hp1 HG01891.hp1	a0011 a0011	a0011c0040 a0011c0040	a0011c0040t0007 a0011c0040t0007	a0011c0040t0007g0060 a0011c0040t0007g0060	1	468	0.0021	c.65C others(2): Show c.65C>T	p.Ser others(5): Show p.Ser22Leu	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	1/10	139/2018	65/1752	22/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84191361	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(319): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0005 others(12): Show a0001 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018	a0001c0002 a0001c0004 a0001c0006 others(27): Show a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0001c0013 a0001c0017 a0001c0019 a0001c0021 a0001c0023 a0001c0024 a0001c0033 a0001c0035 a0003c0001 a0003c0015 a0003c0034 a0005c0010 a0006c0016 a0006c0027 a0007c0018 a0008c0014 a0009c0020 a0010c0030 a0011c0040 a0012c0031 a0014c0026 a0015c0032 a0016c0025 a0017c0028 a0018c0029	a0001c0002t0001 a0001c0002t0008 a0001c0002t0010 others(35): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0010 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0004t0009 a0001c0006t0001 a0001c0007t0001 a0001c0007t0004 a0001c0011t0001 a0001c0013t0001 a0001c0017t0001 a0001c0019t0001 a0001c0021t0001 a0001c0023t0001 a0001c0024t0004 a0001c0033t0001 a0001c0035t0001 a0003c0001t0001 a0003c0001t0006 a0003c0015t0001 a0003c0034t0001 a0005c0010t0006 a0006c0016t0007 a0006c0027t0007 a0007c0018t0003 a0007c0018t0004 a0008c0014t0001 a0009c0020t0003 a0010c0030t0001 a0011c0040t0007 a0012c0031t0001 a0014c0026t0001 a0015c0032t0001 a0016c0025t0001 a0017c0028t0001 a0018c0029t0001	a0001c0002t0001g0001 a0001c0002t0001g0009 a0001c0002t0001g0034 others(73): Show a0001c0002t0001g0001 a0001c0002t0001g0009 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0008g0001 a0001c0002t0010g0009 a0001c0004t0001g0008 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0001g0061 a0001c0004t0003g0006 a0001c0004t0003g0011 a0001c0004t0003g0032 a0001c0004t0004g0011 a0001c0004t0004g0012 a0001c0004t0004g0020 a0001c0004t0004g0024 a0001c0004t0004g0033 a0001c0004t0009g0008 a0001c0006t0001g0001 a0001c0006t0001g0015 a0001c0007t0001g0007 a0001c0007t0001g0019 a0001c0007t0004g0031 a0001c0011t0001g0016 a0001c0013t0001g0001 a0001c0013t0001g0035 a0001c0017t0001g0063 a0001c0017t0001g0067 a0001c0019t0001g0051 a0001c0019t0001g0059 a0001c0021t0001g0007 a0001c0023t0001g0001 a0001c0024t0004g0012 a0001c0033t0001g0001 a0001c0035t0001g0049 a0003c0001t0001g0003 a0003c0001t0001g0004 a0003c0001t0001g0017 a0003c0001t0001g0021 a0003c0001t0001g0055 a0003c0001t0001g0056 a0003c0001t0001g0066 a0003c0001t0001g0068 a0003c0001t0001g0069 a0003c0001t0001g0071 a0003c0001t0001g0072 a0003c0001t0001g0073 a0003c0001t0001g0074 a0003c0001t0001g0075 a0003c0001t0001g0076 a0003c0001t0006g0013 a0003c0001t0006g0077 a0003c0015t0001g0065 a0003c0015t0001g0070 a0003c0034t0001g0003 a0005c0010t0006g0013 a0006c0016t0007g0062 a0006c0016t0007g0064 a0006c0027t0007g0047 a0007c0018t0003g0048 a0007c0018t0004g0006 a0008c0014t0001g0030 a0009c0020t0003g0006 a0010c0030t0001g0001 a0011c0040t0007g0060 a0012c0031t0001g0001 a0014c0026t0001g0003 a0015c0032t0001g0078 a0016c0025t0001g0003 a0017c0028t0001g0008 a0018c0029t0001g0001	322	467	0.6895	c.131 others(3): Show c.131G>A	p.Gly others(5): Show p.Gly44Glu	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	1/10	205/2018	131/1752	44/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84191361	G G	C C	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0019 a0001c0036t0001g0019	1	146	0.0068	c.131 others(3): Show c.131G>C	p.Gly others(5): Show p.Gly44Ala	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	1/10	205/2018	131/1752	44/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84195164	G G	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp2 HG00544.hp1 others(122): Show HG00099.hp2 HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18949.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18963.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18978.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0003 a0004 a0005 others(2): Show a0003 a0004 a0005 a0014 a0016	a0003c0001 a0003c0015 a0003c0034 others(4): Show a0003c0001 a0003c0015 a0003c0034 a0004c0009 a0005c0010 a0014c0026 a0016c0025	a0003c0001t0001 a0003c0001t0006 a0003c0015t0001 others(5): Show a0003c0001t0001 a0003c0001t0006 a0003c0015t0001 a0003c0034t0001 a0004c0009t0002 a0005c0010t0006 a0014c0026t0001 a0016c0025t0001	a0003c0001t0001g0003 a0003c0001t0001g0004 a0003c0001t0001g0017 others(23): Show a0003c0001t0001g0003 a0003c0001t0001g0004 a0003c0001t0001g0017 a0003c0001t0001g0021 a0003c0001t0001g0055 a0003c0001t0001g0056 a0003c0001t0001g0066 a0003c0001t0001g0068 a0003c0001t0001g0069 a0003c0001t0001g0071 a0003c0001t0001g0072 a0003c0001t0001g0073 a0003c0001t0001g0074 a0003c0001t0001g0075 a0003c0001t0001g0076 a0003c0001t0006g0013 a0003c0001t0006g0077 a0003c0015t0001g0065 a0003c0015t0001g0070 a0003c0034t0001g0003 a0004c0009t0002g0022 a0004c0009t0002g0028 a0004c0009t0002g0044 a0005c0010t0006g0013 a0014c0026t0001g0003 a0016c0025t0001g0003	125	468	0.2671	c.703 others(3): Show c.703G>C	p.Gly others(6): Show p.Gly235Arg	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	4/10	777/2018	703/1752	235/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84195192	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01891.hp1 HG02615.hp1 HG03098.hp1 others(1): Show HG01891.hp1 HG02615.hp1 HG03098.hp1 HG03486.hp2	a0006 a0011 a0006 a0011	a0006c0016 a0006c0027 a0011c0040 a0006c0016 a0006c0027 a0011c0040	a0006c0016t0007 a0006c0027t0007 a0011c0040t0007 a0006c0016t0007 a0006c0027t0007 a0011c0040t0007	a0006c0016t0007g0062 a0006c0016t0007g0064 a0006c0027t0007g0047 others(1): Show a0006c0016t0007g0062 a0006c0016t0007g0064 a0006c0027t0007g0047 a0011c0040t0007g0060	4	468	0.0085	c.731 others(3): Show c.731G>A	p.Arg others(6): Show p.Arg244Lys	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	4/10	805/2018	731/1752	244/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84195302	C C	T T	missense_variant missense_variant	MODERATE	HG02273.hp1 HG02273.hp1	a0013 a0013	a0013c0039 a0013c0039	a0013c0039t0002 a0013c0039t0002	a0013c0039t0002g0002 a0013c0039t0002g0002	1	468	0.0021	c.740 others(3): Show c.740C>T	p.Pro others(6): Show p.Pro247Leu	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	5/10	814/2018	740/1752	247/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84195318	C C	A A	missense_variant missense_variant	MODERATE	NA18991.hp2 NA18991.hp2	a0017 a0017	a0017c0028 a0017c0028	a0017c0028t0001 a0017c0028t0001	a0017c0028t0001g0008 a0017c0028t0001g0008	1	468	0.0021	c.756 others(3): Show c.756C>A	p.His others(6): Show p.His252Gln	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	5/10	830/2018	756/1752	252/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84195601	C C	T T	missense_variant missense_variant	MODERATE	HG04228.hp2 HG04228.hp2	a0015 a0015	a0015c0032 a0015c0032	a0015c0032t0001 a0015c0032t0001	a0015c0032t0001g0078 a0015c0032t0001g0078	1	468	0.0021	c.956 others(3): Show c.956C>T	p.Pro others(6): Show p.Pro319Leu	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	6/10	1030/2018	956/1752	319/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84195626	C C	G G	missense_variant missense_variant	MODERATE	NA18999.hp2 NA19070.hp2 NA18999.hp2 NA19070.hp2	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0003 a0009c0020t0003	a0009c0020t0003g0006 a0009c0020t0003g0006	2	468	0.0043	c.981 others(3): Show c.981C>G	p.Phe others(6): Show p.Phe327Leu	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	6/10	1055/2018	981/1752	327/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84196205	G G	T T	missense_variant missense_variant	MODERATE	HG02809.hp1 HG02809.hp1	a0014 a0014	a0014c0026 a0014c0026	a0014c0026t0001 a0014c0026t0001	a0014c0026t0001g0003 a0014c0026t0001g0003	1	468	0.0021	c.136 others(4): Show c.1361G>T	p.Cys others(6): Show p.Cys454Phe	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	8/10	1435/2018	1361/1752	454/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84196226	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp1	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0001 a0010c0030t0001	a0010c0030t0001g0001 a0010c0030t0001g0001	1	468	0.0021	c.138 others(4): Show c.1382G>A	p.Arg others(6): Show p.Arg461Gln	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	8/10	1456/2018	1382/1752	461/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84196246	G G	T T	missense_variant missense_variant	MODERATE	NA18939.hp2 NA18939.hp2	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0001 a0016c0025t0001	a0016c0025t0001g0003 a0016c0025t0001g0003	1	468	0.0021	c.140 others(4): Show c.1402G>T	p.Ala others(6): Show p.Ala468Ser	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	8/10	1476/2018	1402/1752	468/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84196277	C C	T T	missense_variant missense_variant	MODERATE	HG02083.hp1 HG02083.hp1	a0012 a0012	a0012c0031 a0012c0031	a0012c0031t0001 a0012c0031t0001	a0012c0031t0001g0001 a0012c0031t0001g0001	1	468	0.0021	c.143 others(4): Show c.1433C>T	p.Thr others(6): Show p.Thr478Ile	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	8/10	1507/2018	1433/1752	478/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84196709	C C	T T	missense_variant missense_variant	MODERATE	HG00423.hp1 HG03927.hp2 HG00423.hp1 HG03927.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0003 a0007c0018t0004 a0007c0018t0003 a0007c0018t0004	a0007c0018t0003g0048 a0007c0018t0004g0006 a0007c0018t0003g0048 a0007c0018t0004g0006	2	468	0.0043	c.158 others(4): Show c.1589C>T	p.Ala others(6): Show p.Ala530Val	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	9/10	1663/2018	1589/1752	530/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84196741	G G	T T	missense_variant missense_variant	MODERATE	HG01358.hp2 HG01516.hp2 HG02258.hp2 others(2): Show HG01358.hp2 HG01516.hp2 HG02258.hp2 HG03209.hp1 HG06807.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0006 a0005c0010t0006	a0005c0010t0006g0013 a0005c0010t0006g0013	5	468	0.0107	c.162 others(4): Show c.1621G>T	p.Ala others(6): Show p.Ala541Ser	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	9/10	1695/2018	1621/1752	541/583	chr16	TogoVar
ADAL_chr15_43325672_43359569	43348988	G G	A A	missense_variant missense_variant	MODERATE	HG02647.hp2 HG02717.hp1 HG02647.hp2 HG02717.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0022 a0003c0005t0004g0029 a0003c0005t0004g0022 a0003c0005t0004g0029	2	384	0.0052	c.715 others(3): Show c.715G>A	p.Gly others(6): Show p.Gly239Ser	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding	11/13	1291/4268	715/1068	239/355	chr15	TogoVar
ADAL_chr15_43325672_43359569	43351781	C C	A A	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02145.hp2 HG02257.hp1 others(1): Show HG01891.hp2 HG02145.hp2 HG02257.hp1 HG02622.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0035 a0002c0004t0004g0065 a0002c0004t0004g0110 a0002c0004t0004g0035 a0002c0004t0004g0065 a0002c0004t0004g0110	4	384	0.0104	c.904 others(3): Show c.904C>A	p.Leu others(6): Show p.Leu302Ile	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding	13/13	1480/4268	904/1068	302/355	chr15	TogoVar
ADAL_chr15_43325672_43359569	43351812	C C	T T	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0028 a0004c0007t0028	a0004c0007t0028g0051 a0004c0007t0028g0051	1	384	0.0026	c.935 others(3): Show c.935C>T	p.Thr others(6): Show p.Thr312Ile	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding	13/13	1511/4268	935/1068	312/355	chr15	TogoVar
ADAM10_chr15_58583809_58754707	58643951	T T	C C	missense_variant missense_variant	MODERATE	NA19000.hp1 NA19005.hp1 NA19000.hp1 NA19005.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0069 a0002c0003t0001 a0002c0003t0069	a0002c0003t0001g0016 a0002c0003t0069g0236 a0002c0003t0001g0016 a0002c0003t0069g0236	2	340	0.0059	c.763 others(3): Show c.763A>G	p.Thr others(6): Show p.Thr255Ala	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	7/16	936/11158	763/2247	255/748	chr15	TogoVar
ADAM10_chr15_58583809_58754707	58665155	T T	C C	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0036 a0003c0004t0036	a0003c0004t0036g0012 a0003c0004t0036g0012	1	340	0.0029	c.527 others(3): Show c.527A>G	p.His others(6): Show p.His176Arg	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/16	700/11158	527/2247	176/748	chr15	TogoVar
ADAM11_chr17_44753988_44786846	44772292	G G	A A	missense_variant missense_variant	MODERATE	HG01952.hp1 HG01952.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0200 a0003c0006t0001g0200	1	334	0.0030	c.569 others(3): Show c.569G>A	p.Arg others(6): Show p.Arg190Gln	ADAM11	ENSG00000073670.14	transcript	ENST00000200557.11	protein_coding	7/27	781/4614	569/2310	190/769	chr17	TogoVar
ADAM11_chr17_44753988_44786846	44773288	A A	G G	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0003 a0007c0012t0003	a0007c0012t0003g0128 a0007c0012t0003g0128	1	334	0.0030	c.853 others(3): Show c.853A>G	p.Ile others(6): Show p.Ile285Val	ADAM11	ENSG00000073670.14	transcript	ENST00000200557.11	protein_coding	11/27	1065/4614	853/2310	285/769	chr17	TogoVar
ADAM11_chr17_44753988_44786846	44774568	A A	T T	missense_variant missense_variant	MODERATE	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0011 a0002c0011t0001g0011	1	334	0.0030	c.115 others(4): Show c.1154A>T	p.His others(6): Show p.His385Leu	ADAM11	ENSG00000073670.14	transcript	ENST00000200557.11	protein_coding	13/27	1366/4614	1154/2310	385/769	chr17	TogoVar
ADAM11_chr17_44753988_44786846	44774577	C C	T T	missense_variant missense_variant	MODERATE	HG02165.hp2 HG02165.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0182 a0004c0008t0003g0182	1	334	0.0030	c.116 others(4): Show c.1163C>T	p.Ser others(6): Show p.Ser388Leu	ADAM11	ENSG00000073670.14	transcript	ENST00000200557.11	protein_coding	13/27	1375/4614	1163/2310	388/769	chr17	TogoVar
ADAM11_chr17_44753988_44786846	44777715	C C	T T	missense_variant missense_variant	MODERATE	NA19057.hp2 NA19057.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0001 a0006c0010t0001g0001	1	334	0.0030	c.192 others(4): Show c.1922C>T	p.Ala others(6): Show p.Ala641Val	ADAM11	ENSG00000073670.14	transcript	ENST00000200557.11	protein_coding	23/27	2134/4614	1922/2310	641/769	chr17	TogoVar
ADAM11_chr17_44753988_44786846	44777720	G G	A A	missense_variant missense_variant	MODERATE	HG02809.hp1 HG02809.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0009 a0005c0013t0001g0009	1	334	0.0030	c.192 others(4): Show c.1927G>A	p.Gly others(6): Show p.Gly643Ser	ADAM11	ENSG00000073670.14	transcript	ENST00000200557.11	protein_coding	23/27	2139/4614	1927/2310	643/769	chr17	TogoVar
ADAM12_chr10_126007391_126393477	126017287	T T	C C	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01346.hp1 HG01106.hp2 HG01346.hp1	a0005 a0005	a0005c0025 a0005c0025	a0005c0025t0002 a0005c0025t0021 a0005c0025t0002 a0005c0025t0021	a0005c0025t0002g0187 a0005c0025t0021g0164 a0005c0025t0002g0187 a0005c0025t0021g0164	2	250	0.0080	c.271 others(4): Show c.2713A>G	p.Ile others(6): Show p.Ile905Val	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	23/23	3045/7941	2713/2721	905/906	chr10	TogoVar
ADAM12_chr10_126007391_126393477	126017332	G G	C C	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02572.hp1	a0012 a0012	a0012c0056 a0012c0056	a0012c0056t0025 a0012c0056t0025	a0012c0056t0025g0002 a0012c0056t0025g0002	1	250	0.0040	c.266 others(4): Show c.2668C>G	p.Pro others(6): Show p.Pro890Ala	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	23/23	3000/7941	2668/2721	890/906	chr10	TogoVar
ADAM12_chr10_126007391_126393477	126046075	T T	C C	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0011 a0011	a0011c0041 a0011c0041	a0011c0041t0006 a0011c0041t0006	a0011c0041t0006g0018 a0011c0041t0006g0018	1	250	0.0040	c.197 others(4): Show c.1975A>G	p.Met others(6): Show p.Met659Val	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	17/23	2307/7941	1975/2721	659/906	chr10	TogoVar
ADAM12_chr10_126007391_126393477	126049327	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02257.hp2	a0009 a0009	a0009c0039 a0009c0039	a0009c0039t0006 a0009c0039t0006	a0009c0039t0006g0210 a0009c0039t0006g0210	1	250	0.0040	c.184 others(4): Show c.1843A>G	p.Thr others(6): Show p.Thr615Ala	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	16/23	2175/7941	1843/2721	615/906	chr10	TogoVar
ADAM12_chr10_126007391_126393477	126049389	T T	C C	missense_variant missense_variant	MODERATE	HG03017.hp2 HG03710.hp1 HG03017.hp2 HG03710.hp1	a0013 a0016 a0013 a0016	a0013c0057 a0016c0030 a0013c0057 a0016c0030	a0013c0057t0006 a0016c0030t0001 a0013c0057t0006 a0016c0030t0001	a0013c0057t0006g0188 a0016c0030t0001g0113 a0013c0057t0006g0188 a0016c0030t0001g0113	2	250	0.0080	c.178 others(4): Show c.1781A>G	p.Asn others(6): Show p.Asn594Ser	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	16/23	2113/7941	1781/2721	594/906	chr10	TogoVar
ADAM12_chr10_126007391_126393477	126049569	G G	C C	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01109.hp1	a0007 a0007	a0007c0040 a0007c0040	a0007c0040t0001 a0007c0040t0001	a0007c0040t0001g0078 a0007c0040t0001g0078	1	250	0.0040	c.171 others(4): Show c.1710C>G	p.Cys others(6): Show p.Cys570Trp	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	15/23	2042/7941	1710/2721	570/906	chr10	TogoVar
ADAM12_chr10_126007391_126393477	126064928	C C	G G	missense_variant missense_variant	MODERATE	HG02258.hp2 HG03471.hp2 HG02258.hp2 HG03471.hp2	a0010 a0015 a0010 a0015	a0010c0035 a0015c0051 a0010c0035 a0015c0051	a0010c0035t0004 a0015c0051t0004 a0010c0035t0004 a0015c0051t0004	a0010c0035t0004g0116 a0015c0051t0004g0034 a0010c0035t0004g0116 a0015c0051t0004g0034	2	250	0.0080	c.148 others(4): Show c.1487G>C	p.Ser others(6): Show p.Ser496Thr	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	14/23	1819/7941	1487/2721	496/906	chr10	TogoVar
ADAM12_chr10_126007391_126393477	126118124	G G	A A	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02055.hp1	a0008 a0008	a0008c0043 a0008c0043	a0008c0043t0001 a0008c0043t0001	a0008c0043t0001g0251 a0008c0043t0001g0251	1	250	0.0040	c.517 others(3): Show c.517C>T	p.Arg others(6): Show p.Arg173Trp	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/23	849/7941	517/2721	173/906	chr10	TogoVar
ADAM12_chr10_126007391_126393477	126118141	T T	C C	missense_variant missense_variant	MODERATE	HG03130.hp2 HG03139.hp2 NA21309.hp1 HG03130.hp2 HG03139.hp2 NA21309.hp1	a0006 a0014 a0006 a0014	a0006c0044 a0006c0045 a0014c0058 a0006c0044 a0006c0045 a0014c0058	a0006c0044t0036 a0006c0045t0019 a0014c0058t0012 a0006c0044t0036 a0006c0045t0019 a0014c0058t0012	a0006c0044t0036g0197 a0006c0045t0019g0115 a0014c0058t0012g0010 a0006c0044t0036g0197 a0006c0045t0019g0115 a0014c0058t0012g0010	3	250	0.0120	c.500 others(3): Show c.500A>G	p.Lys others(6): Show p.Lys167Arg	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/23	832/7941	500/2721	167/906	chr10	TogoVar
ADAM12_chr10_126007391_126393477	126278963	C C	T T	missense_variant missense_variant	MODERATE	HG00423.hp2 HG01928.hp2 HG02015.hp2 others(7): Show HG00423.hp2 HG01928.hp2 HG02015.hp2 HG02109.hp2 HG02145.hp2 HG02896.hp1 HG02897.hp2 HG03710.hp1 NA18951.hp1 NA18966.hp2	a0003 a0004 a0016 a0003 a0004 a0016	a0003c0018 a0003c0027 a0003c0028 others(5): Show a0003c0018 a0003c0027 a0003c0028 a0003c0029 a0004c0022 a0004c0046 a0004c0047 a0016c0030	a0003c0018t0004 a0003c0027t0010 a0003c0028t0015 others(6): Show a0003c0018t0004 a0003c0027t0010 a0003c0028t0015 a0003c0029t0007 a0004c0022t0002 a0004c0022t0016 a0004c0046t0003 a0004c0047t0006 a0016c0030t0001	a0003c0018t0004g0077 a0003c0018t0004g0240 a0003c0027t0010g0204 others(7): Show a0003c0018t0004g0077 a0003c0018t0004g0240 a0003c0027t0010g0204 a0003c0028t0015g0235 a0003c0029t0007g0241 a0004c0022t0002g0183 a0004c0022t0016g0182 a0004c0046t0003g0160 a0004c0047t0006g0165 a0016c0030t0001g0113	10	250	0.0400	c.212 others(3): Show c.212G>A	p.Arg others(5): Show p.Arg71Gln	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/23	544/7941	212/2721	71/906	chr10	TogoVar
ADAM12_chr10_126007391_126393477	126330456	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(133): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18951.hp1 NA18952.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19043.hp1 NA19063.hp1 NA19074.hp1 NA19074.hp2 NA19084.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0003 a0006 others(6): Show a0001 a0003 a0006 a0007 a0008 a0009 a0010 a0011 a0016	a0001c0002 a0001c0003 a0001c0004 others(30): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0019 a0001c0020 a0001c0021 a0001c0026 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0036 a0001c0037 a0001c0038 a0001c0042 a0003c0018 a0003c0027 a0003c0028 a0003c0029 a0006c0044 a0006c0045 a0007c0040 a0008c0043 a0009c0039 a0010c0035 a0011c0041 a0016c0030	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(65): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0022 a0001c0002t0024 a0001c0002t0033 a0001c0002t0041 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0030 a0001c0003t0031 a0001c0003t0038 a0001c0003t0039 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0004t0010 a0001c0004t0014 a0001c0004t0019 a0001c0004t0020 a0001c0004t0035 a0001c0004t0040 a0001c0008t0001 a0001c0008t0002 a0001c0008t0034 a0001c0009t0003 a0001c0009t0013 a0001c0010t0001 a0001c0010t0002 a0001c0012t0012 a0001c0013t0001 a0001c0014t0003 a0001c0014t0004 a0001c0014t0005 a0001c0019t0011 a0001c0020t0017 a0001c0020t0043 a0001c0021t0017 a0001c0026t0001 a0001c0031t0002 a0001c0032t0008 a0001c0033t0001 a0001c0034t0001 a0001c0036t0004 a0001c0037t0010 a0001c0038t0005 a0001c0042t0003 a0003c0018t0004 a0003c0027t0010 a0003c0028t0015 a0003c0029t0007 a0006c0044t0036 a0006c0045t0019 a0007c0040t0001 a0008c0043t0001 a0009c0039t0006 a0010c0035t0004 a0011c0041t0006 a0016c0030t0001	a0001c0002t0001g0031 a0001c0002t0001g0038 a0001c0002t0001g0082 others(133): Show a0001c0002t0001g0031 a0001c0002t0001g0038 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0132 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0001g0144 a0001c0002t0001g0147 a0001c0002t0001g0200 a0001c0002t0001g0245 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0002g0022 a0001c0002t0002g0203 a0001c0002t0002g0222 a0001c0002t0002g0228 a0001c0002t0007g0137 a0001c0002t0007g0214 a0001c0002t0007g0250 a0001c0002t0008g0012 a0001c0002t0008g0127 a0001c0002t0008g0138 a0001c0002t0008g0141 a0001c0002t0009g0013 a0001c0002t0009g0117 a0001c0002t0009g0123 a0001c0002t0009g0135 a0001c0002t0009g0140 a0001c0002t0009g0149 a0001c0002t0010g0201 a0001c0002t0010g0213 a0001c0002t0011g0150 a0001c0002t0014g0016 a0001c0002t0015g0088 a0001c0002t0015g0209 a0001c0002t0016g0014 a0001c0002t0018g0108 a0001c0002t0022g0133 a0001c0002t0024g0001 a0001c0002t0033g0106 a0001c0002t0041g0233 a0001c0003t0003g0081 a0001c0003t0003g0193 a0001c0003t0003g0198 a0001c0003t0003g0211 a0001c0003t0003g0219 a0001c0003t0003g0221 a0001c0003t0003g0231 a0001c0003t0003g0247 a0001c0003t0004g0029 a0001c0003t0004g0089 a0001c0003t0004g0124 a0001c0003t0004g0215 a0001c0003t0004g0225 a0001c0003t0004g0226 a0001c0003t0004g0234 a0001c0003t0004g0238 a0001c0003t0004g0244 a0001c0003t0005g0130 a0001c0003t0005g0227 a0001c0003t0005g0230 a0001c0003t0030g0079 a0001c0003t0031g0191 a0001c0003t0038g0087 a0001c0003t0039g0027 a0001c0004t0001g0237 a0001c0004t0002g0023 a0001c0004t0002g0025 a0001c0004t0002g0092 a0001c0004t0002g0111 a0001c0004t0002g0131 a0001c0004t0002g0224 a0001c0004t0002g0232 a0001c0004t0006g0026 a0001c0004t0006g0107 a0001c0004t0006g0239 a0001c0004t0010g0199 a0001c0004t0014g0121 a0001c0004t0019g0202 a0001c0004t0020g0017 a0001c0004t0020g0195 a0001c0004t0035g0243 a0001c0004t0040g0090 a0001c0008t0001g0105 a0001c0008t0002g0028 a0001c0008t0002g0098 a0001c0008t0002g0146 a0001c0008t0002g0220 a0001c0008t0034g0015 a0001c0009t0003g0218 a0001c0009t0003g0223 a0001c0009t0013g0134 a0001c0009t0013g0174 a0001c0010t0001g0143 a0001c0010t0001g0145 a0001c0010t0002g0091 a0001c0010t0002g0242 a0001c0012t0012g0122 a0001c0012t0012g0192 a0001c0012t0012g0205 a0001c0013t0001g0083 a0001c0013t0001g0216 a0001c0013t0001g0217 a0001c0014t0003g0080 a0001c0014t0004g0229 a0001c0014t0005g0236 a0001c0019t0011g0129 a0001c0019t0011g0207 a0001c0020t0017g0196 a0001c0020t0043g0208 a0001c0021t0017g0109 a0001c0021t0017g0110 a0001c0026t0001g0099 a0001c0031t0002g0206 a0001c0032t0008g0212 a0001c0033t0001g0112 a0001c0034t0001g0128 a0001c0036t0004g0030 a0001c0037t0010g0246 a0001c0038t0005g0093 a0001c0042t0003g0086 a0003c0018t0004g0077 a0003c0018t0004g0240 a0003c0027t0010g0204 a0003c0028t0015g0235 a0003c0029t0007g0241 a0006c0044t0036g0197 a0006c0045t0019g0115 a0007c0040t0001g0078 a0008c0043t0001g0251 a0009c0039t0006g0210 a0010c0035t0004g0116 a0011c0041t0006g0018 a0016c0030t0001g0113	136	250	0.5440	c.142 others(3): Show c.142G>C	p.Gly others(5): Show p.Gly48Arg	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	2/23	474/7941	142/2721	48/906	chr10	TogoVar
ADAM15_chr1_155046316_155067775	155053469	A A	T T	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02258.hp1	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0001 a0009c0020t0001	a0009c0020t0001g0078 a0009c0020t0001g0078	1	322	0.0031	c.239 others(3): Show c.239A>T	p.His others(5): Show p.His80Leu	ADAM15	ENSG00000143537.14	transcript	ENST00000356955.7	protein_coding	3/23	310/2936	239/2592	80/863	chr1	TogoVar

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