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
ADAMTS19_chr5_129455298_129743683	129622233	C C	T T	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02055.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0024 a0006c0014t0002g0024	1	224	0.0045	c.165 others(4): Show c.1655C>T	p.Pro others(6): Show p.Pro552Leu	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	10/23	1749/5201	1655/3642	552/1213	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129704363	A A	T T	missense_variant missense_variant	MODERATE	HG00642.hp2 HG01169.hp2 HG01192.hp2 others(4): Show HG00642.hp2 HG01169.hp2 HG01192.hp2 HG01257.hp2 HG02273.hp2 HG03491.hp2 HG06807.hp1	a0003 a0003	a0003c0005 a0003c0019 a0003c0005 a0003c0019	a0003c0005t0001 a0003c0019t0001 a0003c0005t0001 a0003c0019t0001	a0003c0005t0001g0004 a0003c0005t0001g0130 a0003c0005t0001g0132 others(4): Show a0003c0005t0001g0004 a0003c0005t0001g0130 a0003c0005t0001g0132 a0003c0005t0001g0144 a0003c0005t0001g0145 a0003c0005t0001g0148 a0003c0019t0001g0215	7	224	0.0313	c.328 others(4): Show c.3284A>T	p.Tyr others(7): Show p.Tyr1095Phe	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	21/23	3378/5201	3284/3642	1095/1213	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129735010	G G	A A	missense_variant missense_variant	MODERATE	HG01978.hp2 HG01978.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0001 a0005c0018t0001	a0005c0018t0001g0208 a0005c0018t0001g0208	1	224	0.0045	c.339 others(4): Show c.3391G>A	p.Glu others(7): Show p.Glu1131Lys	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	22/23	3485/5201	3391/3642	1131/1213	chr5	TogoVar
ADAMTS1_chr21_26830755_26850409	26837667	T T	C C	missense_variant missense_variant	MODERATE	NA18956.hp1 NA18956.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0070 a0011c0016t0070	a0011c0016t0070g0178 a0011c0016t0070g0178	1	478	0.0021	c.281 others(4): Show c.2816A>G	p.Asp others(6): Show p.Asp939Gly	ADAMTS1	ENSG00000154734.16	transcript	ENST00000284984.8	protein_coding	9/9	3271/5183	2816/2904	939/967	chr21	TogoVar
ADAMTS1_chr21_26830755_26850409	26838535	C C	T T	missense_variant missense_variant	MODERATE	HG00544.hp1 HG00597.hp2 HG00609.hp2 others(38): Show HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01243.hp2 HG02015.hp1 HG02129.hp1 HG02165.hp2 HG02300.hp2 HG02630.hp1 HG02698.hp1 HG03017.hp2 HG03041.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG04115.hp2 NA18940.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18968.hp2 NA18970.hp2 NA18979.hp2 NA18990.hp2 NA18995.hp2 NA19001.hp1 NA19010.hp1 NA19054.hp2 NA19058.hp1 NA19076.hp2 NA19079.hp1 NA21309.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0003c0010 a0004c0007 a0003c0004 a0003c0010 a0004c0007	a0003c0004t0002 a0003c0004t0004 a0003c0004t0006 others(11): Show a0003c0004t0002 a0003c0004t0004 a0003c0004t0006 a0003c0004t0008 a0003c0004t0012 a0003c0004t0025 a0003c0004t0056 a0003c0004t0063 a0003c0004t0067 a0003c0010t0004 a0003c0010t0008 a0004c0007t0001 a0004c0007t0007 a0004c0007t0021	a0003c0004t0002g0013 a0003c0004t0004g0009 a0003c0004t0004g0180 others(13): Show a0003c0004t0002g0013 a0003c0004t0004g0009 a0003c0004t0004g0180 a0003c0004t0006g0030 a0003c0004t0006g0159 a0003c0004t0008g0010 a0003c0004t0012g0052 a0003c0004t0025g0053 a0003c0004t0056g0163 a0003c0004t0063g0164 a0003c0004t0067g0165 a0003c0010t0004g0189 a0003c0010t0008g0190 a0004c0007t0001g0077 a0004c0007t0007g0078 a0004c0007t0021g0079	41	478	0.0858	c.210 others(4): Show c.2108G>A	p.Arg others(6): Show p.Arg703His	ADAMTS1	ENSG00000154734.16	transcript	ENST00000284984.8	protein_coding	8/9	2563/5183	2108/2904	703/967	chr21	TogoVar
ADAMTS1_chr21_26830755_26850409	26839724	C C	T T	missense_variant missense_variant	MODERATE	HG03139.hp1 HG03139.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0071 a0010c0019t0001g0071	1	478	0.0021	c.189 others(4): Show c.1891G>A	p.Glu others(6): Show p.Glu631Lys	ADAMTS1	ENSG00000154734.16	transcript	ENST00000284984.8	protein_coding	7/9	2346/5183	1891/2904	631/967	chr21	TogoVar
ADAMTS1_chr21_26830755_26850409	26840001	C C	T T	missense_variant missense_variant	MODERATE	HG01175.hp1 HG01175.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0049 a0007c0018t0049	a0007c0018t0049g0080 a0007c0018t0049g0080	1	478	0.0021	c.172 others(4): Show c.1726G>A	p.Gly others(6): Show p.Gly576Ser	ADAMTS1	ENSG00000154734.16	transcript	ENST00000284984.8	protein_coding	6/9	2181/5183	1726/2904	576/967	chr21	TogoVar
ADAMTS1_chr21_26830755_26850409	26840532	G G	A A	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0011 a0013c0020t0011	a0013c0020t0011g0114 a0013c0020t0011g0114	1	478	0.0021	c.140 others(4): Show c.1409C>T	p.Pro others(6): Show p.Pro470Leu	ADAMTS1	ENSG00000154734.16	transcript	ENST00000284984.8	protein_coding	5/9	1864/5183	1409/2904	470/967	chr21	TogoVar
ADAMTS1_chr21_26830755_26850409	26840542	G G	C C	missense_variant missense_variant	MODERATE	NA18987.hp1 NA19005.hp1 NA18987.hp1 NA19005.hp1	a0012 a0015 a0012 a0015	a0012c0021 a0015c0022 a0012c0021 a0015c0022	a0012c0021t0001 a0015c0022t0001 a0012c0021t0001 a0015c0022t0001	a0012c0021t0001g0115 a0015c0022t0001g0150 a0012c0021t0001g0115 a0015c0022t0001g0150	2	478	0.0042	c.139 others(4): Show c.1399C>G	p.Pro others(6): Show p.Pro467Ala	ADAMTS1	ENSG00000154734.16	transcript	ENST00000284984.8	protein_coding	5/9	1854/5183	1399/2904	467/967	chr21	TogoVar
ADAMTS1_chr21_26830755_26850409	26844260	T T	A A	missense_variant missense_variant	MODERATE	NA18992.hp1 NA18992.hp1	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0032 a0014c0013t0032	a0014c0013t0032g0060 a0014c0013t0032g0060	1	478	0.0021	c.695 others(3): Show c.695A>T	p.Gln others(6): Show p.Gln232Leu	ADAMTS1	ENSG00000154734.16	transcript	ENST00000284984.8	protein_coding	1/9	1150/5183	695/2904	232/967	chr21	TogoVar
ADAMTS1_chr21_26830755_26850409	26844276	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(285): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0006 others(8): Show a0001 a0004 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0015 a0016	a0001c0001 a0001c0003 a0001c0005 others(14): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0011 a0001c0023 a0001c0024 a0004c0007 a0006c0012 a0007c0018 a0008c0025 a0009c0017 a0010c0019 a0012c0021 a0013c0020 a0015c0022 a0016c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(66): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0029 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0046 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0003t0009 a0001c0003t0011 a0001c0003t0013 a0001c0003t0018 a0001c0003t0042 a0001c0003t0047 a0001c0003t0048 a0001c0003t0053 a0001c0005t0001 a0001c0005t0005 a0001c0005t0009 a0001c0005t0014 a0001c0005t0016 a0001c0005t0017 a0001c0005t0018 a0001c0005t0020 a0001c0005t0021 a0001c0005t0028 a0001c0005t0033 a0001c0005t0034 a0001c0005t0044 a0001c0006t0001 a0001c0006t0003 a0001c0006t0011 a0001c0006t0052 a0001c0011t0009 a0001c0023t0001 a0001c0024t0001 a0004c0007t0001 a0004c0007t0007 a0004c0007t0021 a0006c0012t0003 a0007c0018t0049 a0008c0025t0001 a0009c0017t0001 a0010c0019t0001 a0012c0021t0001 a0013c0020t0011 a0015c0022t0001 a0016c0026t0039	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0015 others(125): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0003g0005 a0001c0001t0005g0008 a0001c0001t0007g0021 a0001c0001t0007g0042 a0001c0001t0007g0044 a0001c0001t0007g0073 a0001c0001t0007g0076 a0001c0001t0007g0087 a0001c0001t0007g0113 a0001c0001t0009g0045 a0001c0001t0009g0048 a0001c0001t0010g0039 a0001c0001t0010g0043 a0001c0001t0010g0049 a0001c0001t0010g0081 a0001c0001t0010g0083 a0001c0001t0010g0101 a0001c0001t0011g0027 a0001c0001t0013g0028 a0001c0001t0013g0084 a0001c0001t0013g0122 a0001c0001t0014g0072 a0001c0001t0014g0082 a0001c0001t0014g0085 a0001c0001t0014g0090 a0001c0001t0017g0024 a0001c0001t0018g0105 a0001c0001t0019g0047 a0001c0001t0019g0097 a0001c0001t0020g0091 a0001c0001t0020g0100 a0001c0001t0029g0086 a0001c0001t0029g0109 a0001c0001t0035g0102 a0001c0001t0036g0096 a0001c0001t0037g0103 a0001c0001t0038g0104 a0001c0001t0040g0106 a0001c0001t0041g0107 a0001c0001t0043g0108 a0001c0001t0046g0110 a0001c0001t0050g0112 a0001c0001t0051g0074 a0001c0001t0054g0111 a0001c0003t0001g0006 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0003g0003 a0001c0003t0003g0128 a0001c0003t0003g0132 a0001c0003t0005g0007 a0001c0003t0005g0127 a0001c0003t0007g0134 a0001c0003t0007g0146 a0001c0003t0009g0050 a0001c0003t0009g0142 a0001c0003t0011g0131 a0001c0003t0011g0133 a0001c0003t0011g0140 a0001c0003t0013g0147 a0001c0003t0018g0126 a0001c0003t0042g0141 a0001c0003t0047g0144 a0001c0003t0048g0145 a0001c0003t0053g0148 a0001c0005t0001g0023 a0001c0005t0001g0036 a0001c0005t0001g0037 a0001c0005t0001g0065 a0001c0005t0001g0093 a0001c0005t0001g0094 a0001c0005t0005g0038 a0001c0005t0009g0120 a0001c0005t0014g0119 a0001c0005t0016g0019 a0001c0005t0017g0118 a0001c0005t0018g0067 a0001c0005t0020g0070 a0001c0005t0021g0035 a0001c0005t0028g0066 a0001c0005t0028g0068 a0001c0005t0033g0061 a0001c0005t0034g0062 a0001c0005t0044g0069 a0001c0006t0001g0022 a0001c0006t0003g0129 a0001c0006t0003g0135 a0001c0006t0003g0149 a0001c0006t0011g0130 a0001c0006t0052g0136 a0001c0011t0009g0046 a0001c0023t0001g0152 a0001c0024t0001g0151 a0004c0007t0001g0077 a0004c0007t0007g0078 a0004c0007t0021g0079 a0006c0012t0003g0063 a0007c0018t0049g0080 a0008c0025t0001g0153 a0009c0017t0001g0064 a0010c0019t0001g0071 a0012c0021t0001g0115 a0013c0020t0011g0114 a0015c0022t0001g0150 a0016c0026t0039g0154	288	478	0.6025	c.679 others(3): Show c.679G>C	p.Ala others(6): Show p.Ala227Pro	ADAMTS1	ENSG00000154734.16	transcript	ENST00000284984.8	protein_coding	1/9	1134/5183	679/2904	227/967	chr21	TogoVar
ADAMTS1_chr21_26830755_26850409	26844369	C C	A A	missense_variant missense_variant	MODERATE	NA19005.hp1 NA19005.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0001 a0015c0022t0001	a0015c0022t0001g0150 a0015c0022t0001g0150	1	478	0.0021	c.586 others(3): Show c.586G>T	p.Gly others(6): Show p.Gly196Cys	ADAMTS1	ENSG00000154734.16	transcript	ENST00000284984.8	protein_coding	1/9	1041/5183	586/2904	196/967	chr21	TogoVar
ADAMTS1_chr21_26830755_26850409	26844543	C C	A A	missense_variant missense_variant	MODERATE	HG02293.hp2 HG02293.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0001 a0008c0025t0001	a0008c0025t0001g0153 a0008c0025t0001g0153	1	478	0.0021	c.412 others(3): Show c.412G>T	p.Ala others(6): Show p.Ala138Ser	ADAMTS1	ENSG00000154734.16	transcript	ENST00000284984.8	protein_coding	1/9	867/5183	412/2904	138/967	chr21	TogoVar
ADAMTS1_chr21_26830755_26850409	26844611	A A	T T	missense_variant missense_variant	MODERATE	NA18992.hp1 NA18992.hp1	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0032 a0014c0013t0032	a0014c0013t0032g0060 a0014c0013t0032g0060	1	478	0.0021	c.344 others(3): Show c.344T>A	p.Leu others(6): Show p.Leu115His	ADAMTS1	ENSG00000154734.16	transcript	ENST00000284984.8	protein_coding	1/9	799/5183	344/2904	115/967	chr21	TogoVar
ADAMTS1_chr21_26830755_26850409	26844740	C C	T T	missense_variant missense_variant	MODERATE	HG02683.hp1 HG02683.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0064 a0009c0017t0001g0064	1	478	0.0021	c.215 others(3): Show c.215G>A	p.Gly others(5): Show p.Gly72Glu	ADAMTS1	ENSG00000154734.16	transcript	ENST00000284984.8	protein_coding	1/9	670/5183	215/2904	72/967	chr21	TogoVar
ADAMTS1_chr21_26830755_26850409	26844797	G G	C C	missense_variant missense_variant	MODERATE	NA19007.hp1 NA19007.hp1	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0039 a0016c0026t0039	a0016c0026t0039g0154 a0016c0026t0039g0154	1	478	0.0021	c.158 others(3): Show c.158C>G	p.Pro others(5): Show p.Pro53Arg	ADAMTS1	ENSG00000154734.16	transcript	ENST00000284984.8	protein_coding	1/9	613/5183	158/2904	53/967	chr21	TogoVar
ADAMTS1_chr21_26830755_26850409	26844864	C C	T T	missense_variant missense_variant	MODERATE	NA18943.hp2 NA18960.hp1 NA18943.hp2 NA18960.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0015 a0005c0008t0015	a0005c0008t0015g0051 a0005c0008t0015g0051	2	478	0.0042	c.91G others(2): Show c.91G>A	p.Gly others(5): Show p.Gly31Arg	ADAMTS1	ENSG00000154734.16	transcript	ENST00000284984.8	protein_coding	1/9	546/5183	91/2904	31/967	chr21	TogoVar
ADAMTS1_chr21_26830755_26850409	26844894	C C	T T	missense_variant missense_variant	MODERATE	HG00597.hp1 HG00597.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0003 a0006c0012t0003	a0006c0012t0003g0063 a0006c0012t0003g0063	1	478	0.0021	c.61G others(2): Show c.61G>A	p.Ala others(5): Show p.Ala21Thr	ADAMTS1	ENSG00000154734.16	transcript	ENST00000284984.8	protein_coding	1/9	516/5183	61/2904	21/967	chr21	TogoVar
ADAMTS20_chr12_43348866_43557203	43375504	T T	C C	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02970.hp2 HG02258.hp1 HG02970.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0002 a0007c0015t0001 a0007c0015t0002	a0007c0015t0001g0150 a0007c0015t0002g0291 a0007c0015t0001g0150 a0007c0015t0002g0291	2	304	0.0066	c.532 others(4): Show c.5321A>G	p.Asn others(7): Show p.Asn1774Ser	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	36/39	5603/6358	5321/5733	1774/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43377373	A A	C C	missense_variant missense_variant	MODERATE	NA18986.hp2 NA18986.hp2	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0001 a0015c0018t0001	a0015c0018t0001g0233 a0015c0018t0001g0233	1	304	0.0033	c.498 others(4): Show c.4987T>G	p.Trp others(7): Show p.Trp1663Gly	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	32/39	5269/6358	4987/5733	1663/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43377559	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp2 HG03453.hp2 HG02896.hp2 HG03453.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0193 a0008c0013t0001g0195 a0008c0013t0001g0193 a0008c0013t0001g0195	2	304	0.0066	c.480 others(4): Show c.4801G>A	p.Ala others(7): Show p.Ala1601Thr	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	32/39	5083/6358	4801/5733	1601/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43383827	C C	A A	missense_variant missense_variant	MODERATE	NA18961.hp1 NA18974.hp1 NA18991.hp2 others(1): Show NA18961.hp1 NA18974.hp1 NA18991.hp2 NA19001.hp2	a0006 a0016 a0006 a0016	a0006c0010 a0016c0023 a0006c0010 a0016c0023	a0006c0010t0001 a0016c0023t0001 a0006c0010t0001 a0016c0023t0001	a0006c0010t0001g0107 a0006c0010t0001g0109 a0006c0010t0001g0123 others(1): Show a0006c0010t0001g0107 a0006c0010t0001g0109 a0006c0010t0001g0123 a0016c0023t0001g0104	4	304	0.0132	c.460 others(4): Show c.4603G>T	p.Gly others(7): Show p.Gly1535Trp	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	30/39	4885/6358	4603/5733	1535/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43425534	G G	A A	missense_variant missense_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0003 a0010c0019t0003	a0010c0019t0003g0001 a0010c0019t0003g0001	1	304	0.0033	c.426 others(4): Show c.4264C>T	p.His others(7): Show p.His1422Tyr	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	28/39	4546/6358	4264/5733	1422/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43425674	C C	T T	missense_variant missense_variant	MODERATE	HG03195.hp1 HG03195.hp1	a0011 a0011	a0011c0024 a0011c0024	a0011c0024t0001 a0011c0024t0001	a0011c0024t0001g0009 a0011c0024t0001g0009	1	304	0.0033	c.412 others(4): Show c.4124G>A	p.Gly others(7): Show p.Gly1375Glu	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	28/39	4406/6358	4124/5733	1375/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43427322	C C	T T	missense_variant missense_variant	MODERATE	NA18991.hp2 NA18991.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0001 a0016c0023t0001	a0016c0023t0001g0104 a0016c0023t0001g0104	1	304	0.0033	c.409 others(4): Show c.4093G>A	p.Gly others(7): Show p.Gly1365Arg	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	27/39	4375/6358	4093/5733	1365/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43427352	C C	A A	missense_variant missense_variant	MODERATE	NA19004.hp1 NA19004.hp1	a0017 a0017	a0017c0028 a0017c0028	a0017c0028t0001 a0017c0028t0001	a0017c0028t0001g0253 a0017c0028t0001g0253	1	304	0.0033	c.406 others(4): Show c.4063G>T	p.Gly others(7): Show p.Gly1355Cys	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	27/39	4345/6358	4063/5733	1355/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43428368	G G	A A	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00597.hp1 HG01891.hp2 others(20): Show HG00558.hp2 HG00597.hp1 HG01891.hp2 HG02280.hp1 HG04204.hp1 NA18940.hp2 NA18941.hp2 NA18947.hp1 NA18954.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18991.hp1 NA18994.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19060.hp1 NA19066.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp2 NA19090.hp2	a0002 a0017 a0002 a0017	a0002c0004 a0002c0020 a0002c0026 others(2): Show a0002c0004 a0002c0020 a0002c0026 a0002c0027 a0017c0028	a0002c0004t0001 a0002c0004t0002 a0002c0020t0001 others(3): Show a0002c0004t0001 a0002c0004t0002 a0002c0020t0001 a0002c0026t0001 a0002c0027t0001 a0017c0028t0001	a0002c0004t0001g0015 a0002c0004t0001g0251 a0002c0004t0001g0252 others(20): Show a0002c0004t0001g0015 a0002c0004t0001g0251 a0002c0004t0001g0252 a0002c0004t0001g0254 a0002c0004t0001g0255 a0002c0004t0001g0257 a0002c0004t0001g0258 a0002c0004t0001g0259 a0002c0004t0001g0260 a0002c0004t0001g0261 a0002c0004t0001g0262 a0002c0004t0001g0263 a0002c0004t0001g0264 a0002c0004t0001g0267 a0002c0004t0001g0268 a0002c0004t0001g0269 a0002c0004t0001g0270 a0002c0004t0001g0272 a0002c0004t0002g0302 a0002c0020t0001g0231 a0002c0026t0001g0271 a0002c0027t0001g0256 a0017c0028t0001g0253	23	304	0.0757	c.381 others(4): Show c.3818C>T	p.Ser others(7): Show p.Ser1273Phe	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	26/39	4100/6358	3818/5733	1273/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43432389	T T	C C	missense_variant missense_variant	MODERATE	HG01109.hp1 HG02976.hp1 HG03209.hp1 others(1): Show HG01109.hp1 HG02976.hp1 HG03209.hp1 NA18522.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0136 a0003c0006t0001g0137 a0003c0006t0001g0191 others(1): Show a0003c0006t0001g0136 a0003c0006t0001g0137 a0003c0006t0001g0191 a0003c0006t0001g0216	4	304	0.0132	c.301 others(4): Show c.3011A>G	p.Asn others(7): Show p.Asn1004Ser	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	21/39	3293/6358	3011/5733	1004/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43432401	C C	T T	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00597.hp1 HG01891.hp2 others(20): Show HG00558.hp2 HG00597.hp1 HG01891.hp2 HG02280.hp1 HG04204.hp1 NA18940.hp2 NA18941.hp2 NA18947.hp1 NA18954.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18991.hp1 NA18994.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19060.hp1 NA19066.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp2 NA19090.hp2	a0002 a0017 a0002 a0017	a0002c0004 a0002c0020 a0002c0026 others(2): Show a0002c0004 a0002c0020 a0002c0026 a0002c0027 a0017c0028	a0002c0004t0001 a0002c0004t0002 a0002c0020t0001 others(3): Show a0002c0004t0001 a0002c0004t0002 a0002c0020t0001 a0002c0026t0001 a0002c0027t0001 a0017c0028t0001	a0002c0004t0001g0015 a0002c0004t0001g0251 a0002c0004t0001g0252 others(20): Show a0002c0004t0001g0015 a0002c0004t0001g0251 a0002c0004t0001g0252 a0002c0004t0001g0254 a0002c0004t0001g0255 a0002c0004t0001g0257 a0002c0004t0001g0258 a0002c0004t0001g0259 a0002c0004t0001g0260 a0002c0004t0001g0261 a0002c0004t0001g0262 a0002c0004t0001g0263 a0002c0004t0001g0264 a0002c0004t0001g0267 a0002c0004t0001g0268 a0002c0004t0001g0269 a0002c0004t0001g0270 a0002c0004t0001g0272 a0002c0004t0002g0302 a0002c0020t0001g0231 a0002c0026t0001g0271 a0002c0027t0001g0256 a0017c0028t0001g0253	23	304	0.0757	c.299 others(4): Show c.2999G>A	p.Arg others(7): Show p.Arg1000His	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	21/39	3281/6358	2999/5733	1000/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43432787	T T	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02258.hp2 HG02451.hp1 others(4): Show HG01884.hp1 HG02258.hp2 HG02451.hp1 HG02896.hp2 HG02965.hp1 HG03453.hp2 NA18906.hp1	a0004 a0008 a0013 a0004 a0008 a0013	a0004c0007 a0008c0013 a0013c0030 a0004c0007 a0008c0013 a0013c0030	a0004c0007t0001 a0008c0013t0001 a0013c0030t0001 a0004c0007t0001 a0008c0013t0001 a0013c0030t0001	a0004c0007t0001g0076 a0004c0007t0001g0152 a0004c0007t0001g0153 others(4): Show a0004c0007t0001g0076 a0004c0007t0001g0152 a0004c0007t0001g0153 a0004c0007t0001g0154 a0008c0013t0001g0193 a0008c0013t0001g0195 a0013c0030t0001g0243	7	304	0.0230	c.274 others(4): Show c.2745A>T	p.Glu others(6): Show p.Glu915Asp	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	20/39	3027/6358	2745/5733	915/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43434338	T T	A A	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00597.hp1 HG01891.hp2 others(20): Show HG00558.hp2 HG00597.hp1 HG01891.hp2 HG02280.hp1 HG04204.hp1 NA18940.hp2 NA18941.hp2 NA18947.hp1 NA18954.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18991.hp1 NA18994.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19060.hp1 NA19066.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp2 NA19090.hp2	a0002 a0017 a0002 a0017	a0002c0004 a0002c0020 a0002c0026 others(2): Show a0002c0004 a0002c0020 a0002c0026 a0002c0027 a0017c0028	a0002c0004t0001 a0002c0004t0002 a0002c0020t0001 others(3): Show a0002c0004t0001 a0002c0004t0002 a0002c0020t0001 a0002c0026t0001 a0002c0027t0001 a0017c0028t0001	a0002c0004t0001g0015 a0002c0004t0001g0251 a0002c0004t0001g0252 others(20): Show a0002c0004t0001g0015 a0002c0004t0001g0251 a0002c0004t0001g0252 a0002c0004t0001g0254 a0002c0004t0001g0255 a0002c0004t0001g0257 a0002c0004t0001g0258 a0002c0004t0001g0259 a0002c0004t0001g0260 a0002c0004t0001g0261 a0002c0004t0001g0262 a0002c0004t0001g0263 a0002c0004t0001g0264 a0002c0004t0001g0267 a0002c0004t0001g0268 a0002c0004t0001g0269 a0002c0004t0001g0270 a0002c0004t0001g0272 a0002c0004t0002g0302 a0002c0020t0001g0231 a0002c0026t0001g0271 a0002c0027t0001g0256 a0017c0028t0001g0253	23	304	0.0757	c.262 others(4): Show c.2627A>T	p.Lys others(6): Show p.Lys876Met	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	19/39	2909/6358	2627/5733	876/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43452396	G G	T T	missense_variant missense_variant	MODERATE	NA18947.hp2 NA18952.hp2 NA18955.hp1 NA18947.hp2 NA18952.hp2 NA18955.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0038 a0005c0008t0001g0040 a0005c0008t0001g0124 a0005c0008t0001g0038 a0005c0008t0001g0040 a0005c0008t0001g0124	3	304	0.0099	c.195 others(4): Show c.1957C>A	p.Arg others(6): Show p.Arg653Ser	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	14/39	2239/6358	1957/5733	653/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43453908	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03130.hp1 HG03540.hp2 HG03130.hp1 HG03540.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0207 a0009c0014t0001g0209 a0009c0014t0001g0207 a0009c0014t0001g0209	2	304	0.0066	c.175 others(4): Show c.1759G>A	p.Glu others(6): Show p.Glu587Lys	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	12/39	2041/6358	1759/5733	587/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43502358	T T	G G	missense_variant missense_variant	MODERATE	HG03579.hp1 NA18906.hp1 HG03579.hp1 NA18906.hp1	a0012 a0013 a0012 a0013	a0012c0029 a0013c0030 a0012c0029 a0013c0030	a0012c0029t0002 a0013c0030t0001 a0012c0029t0002 a0013c0030t0001	a0012c0029t0002g0276 a0013c0030t0001g0243 a0012c0029t0002g0276 a0013c0030t0001g0243	2	304	0.0066	c.661 others(3): Show c.661A>C	p.Met others(6): Show p.Met221Leu	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	4/39	943/6358	661/5733	221/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43551004	C C	G G	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0001 a0018c0017t0001	a0018c0017t0001g0014 a0018c0017t0001g0014	1	304	0.0033	c.358 others(3): Show c.358G>C	p.Asp others(6): Show p.Asp120His	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	2/39	640/6358	358/5733	120/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43551840	G G	T T	missense_variant missense_variant	MODERATE	NA18968.hp1 NA18968.hp1	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0007 a0014c0016t0001g0007	1	304	0.0033	c.82C others(2): Show c.82C>A	p.Pro others(5): Show p.Pro28Thr	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	1/39	364/6358	82/5733	28/1910	chr12	TogoVar
ADAMTS2_chr5_179105853_179350461	179113974	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00323.hp2 HG00558.hp2 others(58): Show HG00140.hp1 HG00323.hp2 HG00558.hp2 HG00597.hp2 HG00735.hp1 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01433.hp2 HG01496.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02683.hp1 HG02735.hp2 HG03017.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18945.hp1 NA18947.hp2 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18966.hp2 NA18971.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18998.hp2 NA19007.hp1 NA19011.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0002 a0004 a0005 others(7): Show a0002 a0004 a0005 a0006 a0007 a0009 a0017 a0018 a0021 a0024	a0002c0005 a0002c0010 a0004c0013 others(22): Show a0002c0005 a0002c0010 a0004c0013 a0004c0015 a0004c0019 a0004c0033 a0004c0047 a0004c0073 a0004c0077 a0005c0009 a0005c0011 a0005c0044 a0005c0056 a0005c0061 a0005c0062 a0006c0088 a0006c0090 a0007c0021 a0007c0026 a0007c0041 a0009c0020 a0017c0076 a0018c0071 a0021c0094 a0024c0045	a0002c0005t0003 a0002c0005t0009 a0002c0010t0003 others(29): Show a0002c0005t0003 a0002c0005t0009 a0002c0010t0003 a0002c0010t0009 a0004c0013t0003 a0004c0013t0010 a0004c0015t0003 a0004c0015t0005 a0004c0019t0003 a0004c0033t0003 a0004c0047t0010 a0004c0073t0003 a0004c0077t0017 a0005c0009t0003 a0005c0009t0005 a0005c0011t0003 a0005c0044t0003 a0005c0056t0003 a0005c0061t0003 a0005c0062t0003 a0006c0088t0003 a0006c0090t0016 a0007c0021t0003 a0007c0021t0009 a0007c0021t0018 a0007c0026t0003 a0007c0041t0003 a0009c0020t0003 a0017c0076t0005 a0018c0071t0005 a0021c0094t0003 a0024c0045t0003	a0002c0005t0003g0222 a0002c0005t0003g0229 a0002c0005t0003g0245 others(58): Show a0002c0005t0003g0222 a0002c0005t0003g0229 a0002c0005t0003g0245 a0002c0005t0003g0249 a0002c0005t0003g0261 a0002c0005t0003g0262 a0002c0005t0003g0265 a0002c0005t0003g0273 a0002c0005t0009g0238 a0002c0010t0003g0237 a0002c0010t0003g0239 a0002c0010t0003g0242 a0002c0010t0003g0256 a0002c0010t0003g0257 a0002c0010t0009g0255 a0004c0013t0003g0022 a0004c0013t0003g0084 a0004c0013t0010g0076 a0004c0013t0010g0077 a0004c0015t0003g0042 a0004c0015t0003g0069 a0004c0015t0003g0071 a0004c0015t0005g0075 a0004c0019t0003g0152 a0004c0019t0003g0159 a0004c0019t0003g0180 a0004c0033t0003g0139 a0004c0033t0003g0140 a0004c0047t0010g0160 a0004c0073t0003g0142 a0004c0077t0017g0135 a0005c0009t0003g0028 a0005c0009t0003g0038 a0005c0009t0003g0078 a0005c0009t0003g0079 a0005c0009t0005g0024 a0005c0009t0005g0109 a0005c0011t0003g0153 a0005c0011t0003g0158 a0005c0011t0003g0167 a0005c0011t0003g0170 a0005c0011t0003g0178 a0005c0044t0003g0165 a0005c0056t0003g0103 a0005c0061t0003g0040 a0005c0062t0003g0101 a0006c0088t0003g0215 a0006c0090t0016g0216 a0007c0021t0003g0016 a0007c0021t0009g0104 a0007c0021t0018g0116 a0007c0026t0003g0137 a0007c0026t0003g0138 a0007c0041t0003g0164 a0009c0020t0003g0045 a0009c0020t0003g0092 a0009c0020t0003g0124 a0017c0076t0005g0090 a0018c0071t0005g0025 a0021c0094t0003g0266 a0024c0045t0003g0177	61	274	0.2226	c.352 others(4): Show c.3529C>T	p.Pro others(7): Show p.Pro1177Ser	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	22/22	3662/6783	3529/3636	1177/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179113997	C C	A A	missense_variant missense_variant	MODERATE	NA19005.hp1 NA19064.hp1 NA19070.hp2 NA19005.hp1 NA19064.hp1 NA19070.hp2	a0016 a0022 a0016 a0022	a0016c0027 a0022c0066 a0016c0027 a0022c0066	a0016c0027t0004 a0022c0066t0004 a0016c0027t0004 a0022c0066t0004	a0016c0027t0004g0041 a0016c0027t0004g0094 a0022c0066t0004g0095 a0016c0027t0004g0041 a0016c0027t0004g0094 a0022c0066t0004g0095	3	274	0.0109	c.350 others(4): Show c.3506G>T	p.Gly others(7): Show p.Gly1169Val	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	22/22	3639/6783	3506/3636	1169/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179114160	C C	T T	missense_variant missense_variant	MODERATE	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0014 a0014	a0014c0032 a0014c0032	a0014c0032t0001 a0014c0032t0001	a0014c0032t0001g0085 a0014c0032t0001g0086 a0014c0032t0001g0085 a0014c0032t0001g0086	2	274	0.0073	c.334 others(4): Show c.3343G>A	p.Asp others(7): Show p.Asp1115Asn	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	22/22	3476/6783	3343/3636	1115/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179122718	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp2 NA21309.hp2 HG03130.hp2 NA21309.hp2	a0002 a0024 a0002 a0024	a0002c0112 a0024c0045 a0002c0112 a0024c0045	a0002c0112t0001 a0024c0045t0003 a0002c0112t0001 a0024c0045t0003	a0002c0112t0001g0206 a0024c0045t0003g0177 a0002c0112t0001g0206 a0024c0045t0003g0177	2	274	0.0073	c.301 others(4): Show c.3014C>T	p.Ala others(7): Show p.Ala1005Val	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	20/22	3147/6783	3014/3636	1005/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179128096	C C	T T	missense_variant missense_variant	MODERATE	HG01258.hp1 HG01258.hp1	a0017 a0017	a0017c0076 a0017c0076	a0017c0076t0005 a0017c0076t0005	a0017c0076t0005g0090 a0017c0076t0005g0090	1	274	0.0036	c.248 others(4): Show c.2480G>A	p.Arg others(6): Show p.Arg827Gln	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	17/22	2613/6783	2480/3636	827/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179132876	C C	T T	missense_variant missense_variant	MODERATE	HG01433.hp2 HG01433.hp2	a0018 a0018	a0018c0071 a0018c0071	a0018c0071t0005 a0018c0071t0005	a0018c0071t0005g0025 a0018c0071t0005g0025	1	274	0.0036	c.211 others(4): Show c.2110G>A	p.Gly others(6): Show p.Gly704Ser	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	14/22	2243/6783	2110/3636	704/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179207640	C C	T T	missense_variant missense_variant	MODERATE	HG03834.hp1 HG03834.hp1	a0021 a0021	a0021c0094 a0021c0094	a0021c0094t0003 a0021c0094t0003	a0021c0094t0003g0266 a0021c0094t0003g0266	1	274	0.0036	c.764 others(3): Show c.764G>A	p.Arg others(6): Show p.Arg255Gln	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	4/22	897/6783	764/3636	255/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179207653	T T	C C	missense_variant missense_variant	MODERATE	NA18954.hp1 NA18954.hp1	a0006 a0006	a0006c0092 a0006c0092	a0006c0092t0004 a0006c0092t0004	a0006c0092t0004g0217 a0006c0092t0004g0217	1	274	0.0036	c.751 others(3): Show c.751A>G	p.Asn others(6): Show p.Asn251Asp	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	4/22	884/6783	751/3636	251/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179207671	C C	T T	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00323.hp2 HG00408.hp2 others(132): Show HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01071.hp2 HG01106.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01934.hp2 HG01978.hp2 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp2 NA19084.hp1 NA19084.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0002 a0003 a0005 others(9): Show a0002 a0003 a0005 a0006 a0008 a0009 a0010 a0013 a0015 a0016 a0021 a0024	a0002c0003 a0002c0005 a0002c0093 others(48): Show a0002c0003 a0002c0005 a0002c0093 a0002c0095 a0002c0096 a0002c0097 a0002c0098 a0002c0104 a0002c0105 a0002c0106 a0002c0107 a0002c0108 a0002c0109 a0003c0002 a0003c0007 a0003c0008 a0003c0012 a0003c0017 a0003c0023 a0003c0028 a0003c0029 a0003c0030 a0003c0031 a0003c0042 a0003c0043 a0003c0057 a0003c0058 a0003c0059 a0003c0060 a0003c0063 a0005c0009 a0005c0011 a0005c0044 a0005c0056 a0005c0061 a0005c0062 a0006c0038 a0006c0088 a0006c0090 a0008c0036 a0008c0053 a0008c0078 a0008c0079 a0009c0020 a0010c0085 a0013c0025 a0015c0083 a0015c0084 a0016c0027 a0021c0094 a0024c0045	a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 others(68): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0005t0003 a0002c0005t0009 a0002c0093t0001 a0002c0095t0001 a0002c0096t0002 a0002c0097t0021 a0002c0098t0004 a0002c0104t0027 a0002c0105t0012 a0002c0106t0002 a0002c0107t0011 a0002c0108t0008 a0002c0109t0012 a0003c0002t0001 a0003c0002t0002 a0003c0002t0004 a0003c0002t0006 a0003c0002t0022 a0003c0007t0002 a0003c0008t0001 a0003c0008t0002 a0003c0008t0004 a0003c0008t0023 a0003c0012t0001 a0003c0012t0007 a0003c0012t0013 a0003c0017t0001 a0003c0017t0004 a0003c0023t0002 a0003c0028t0002 a0003c0028t0004 a0003c0029t0001 a0003c0029t0014 a0003c0030t0008 a0003c0030t0011 a0003c0031t0001 a0003c0031t0004 a0003c0042t0001 a0003c0043t0014 a0003c0057t0004 a0003c0058t0002 a0003c0059t0001 a0003c0060t0001 a0003c0063t0004 a0005c0009t0003 a0005c0009t0005 a0005c0011t0003 a0005c0044t0003 a0005c0056t0003 a0005c0061t0003 a0005c0062t0003 a0006c0038t0002 a0006c0038t0019 a0006c0088t0003 a0006c0090t0016 a0008c0036t0004 a0008c0036t0007 a0008c0053t0007 a0008c0078t0001 a0008c0079t0011 a0009c0020t0003 a0010c0085t0002 a0013c0025t0001 a0015c0083t0001 a0015c0084t0008 a0016c0027t0004 a0021c0094t0003 a0024c0045t0003	a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0230 others(132): Show a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0240 a0002c0003t0001g0243 a0002c0003t0001g0254 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0268 a0002c0003t0001g0274 a0002c0003t0002g0244 a0002c0003t0002g0269 a0002c0003t0004g0236 a0002c0003t0004g0252 a0002c0003t0004g0267 a0002c0005t0003g0222 a0002c0005t0003g0229 a0002c0005t0003g0245 a0002c0005t0003g0249 a0002c0005t0003g0261 a0002c0005t0003g0262 a0002c0005t0003g0265 a0002c0005t0003g0273 a0002c0005t0009g0238 a0002c0093t0001g0271 a0002c0095t0001g0253 a0002c0096t0002g0246 a0002c0097t0021g0227 a0002c0098t0004g0272 a0002c0104t0027g0221 a0002c0105t0012g0208 a0002c0106t0002g0209 a0002c0107t0011g0212 a0002c0108t0008g0207 a0002c0109t0012g0203 a0003c0002t0001g0001 a0003c0002t0001g0003 a0003c0002t0001g0008 a0003c0002t0001g0010 a0003c0002t0001g0014 a0003c0002t0001g0031 a0003c0002t0001g0049 a0003c0002t0001g0056 a0003c0002t0001g0082 a0003c0002t0001g0083 a0003c0002t0001g0089 a0003c0002t0001g0099 a0003c0002t0001g0113 a0003c0002t0001g0114 a0003c0002t0001g0117 a0003c0002t0001g0125 a0003c0002t0001g0129 a0003c0002t0001g0133 a0003c0002t0002g0143 a0003c0002t0004g0006 a0003c0002t0004g0105 a0003c0002t0004g0123 a0003c0002t0006g0087 a0003c0002t0022g0136 a0003c0007t0002g0012 a0003c0007t0002g0013 a0003c0007t0002g0030 a0003c0007t0002g0032 a0003c0007t0002g0035 a0003c0007t0002g0039 a0003c0007t0002g0093 a0003c0007t0002g0107 a0003c0008t0001g0149 a0003c0008t0001g0166 a0003c0008t0001g0185 a0003c0008t0001g0186 a0003c0008t0002g0155 a0003c0008t0004g0173 a0003c0008t0023g0188 a0003c0012t0001g0054 a0003c0012t0001g0058 a0003c0012t0007g0120 a0003c0012t0013g0070 a0003c0017t0001g0183 a0003c0017t0001g0189 a0003c0017t0004g0169 a0003c0023t0002g0151 a0003c0023t0002g0172 a0003c0028t0002g0110 a0003c0028t0004g0119 a0003c0029t0001g0132 a0003c0029t0014g0017 a0003c0030t0008g0121 a0003c0030t0011g0128 a0003c0031t0001g0060 a0003c0031t0004g0050 a0003c0042t0001g0145 a0003c0043t0014g0193 a0003c0057t0004g0033 a0003c0058t0002g0067 a0003c0059t0001g0002 a0003c0060t0001g0088 a0003c0063t0004g0057 a0005c0009t0003g0028 a0005c0009t0003g0038 a0005c0009t0003g0078 a0005c0009t0003g0079 a0005c0009t0005g0024 a0005c0009t0005g0109 a0005c0011t0003g0153 a0005c0011t0003g0158 a0005c0011t0003g0167 a0005c0011t0003g0170 a0005c0011t0003g0178 a0005c0044t0003g0165 a0005c0056t0003g0103 a0005c0061t0003g0040 a0005c0062t0003g0101 a0006c0038t0002g0214 a0006c0038t0019g0213 a0006c0088t0003g0215 a0006c0090t0016g0216 a0008c0036t0004g0062 a0008c0036t0007g0036 a0008c0053t0007g0147 a0008c0078t0001g0059 a0008c0079t0011g0074 a0009c0020t0003g0045 a0009c0020t0003g0092 a0009c0020t0003g0124 a0010c0085t0002g0202 a0013c0025t0001g0097 a0013c0025t0001g0127 a0015c0083t0001g0199 a0015c0084t0008g0198 a0016c0027t0004g0041 a0016c0027t0004g0094 a0021c0094t0003g0266 a0024c0045t0003g0177	135	274	0.4927	c.733 others(3): Show c.733G>A	p.Val others(6): Show p.Val245Ile	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	4/22	866/6783	733/3636	245/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179207682	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00597.hp2 HG00621.hp2 others(14): Show HG00408.hp1 HG00597.hp2 HG00621.hp2 HG00735.hp2 HG01952.hp2 HG02004.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp2 NA18612.hp2 NA18945.hp2 NA18947.hp1 NA18957.hp1 NA18971.hp2 NA18981.hp1 NA18984.hp2 NA19064.hp2	a0002 a0006 a0007 others(3): Show a0002 a0006 a0007 a0009 a0011 a0013	a0002c0093 a0006c0088 a0006c0089 others(8): Show a0002c0093 a0006c0088 a0006c0089 a0007c0021 a0007c0026 a0007c0041 a0009c0020 a0011c0040 a0011c0054 a0011c0055 a0013c0025	a0002c0093t0001 a0006c0088t0003 a0006c0089t0006 others(10): Show a0002c0093t0001 a0006c0088t0003 a0006c0089t0006 a0007c0021t0003 a0007c0021t0009 a0007c0021t0018 a0007c0026t0003 a0007c0041t0003 a0009c0020t0003 a0011c0040t0001 a0011c0054t0001 a0011c0055t0001 a0013c0025t0001	a0002c0093t0001g0271 a0006c0088t0003g0215 a0006c0089t0006g0218 others(14): Show a0002c0093t0001g0271 a0006c0088t0003g0215 a0006c0089t0006g0218 a0007c0021t0003g0016 a0007c0021t0009g0104 a0007c0021t0018g0116 a0007c0026t0003g0137 a0007c0026t0003g0138 a0007c0041t0003g0164 a0009c0020t0003g0045 a0009c0020t0003g0092 a0009c0020t0003g0124 a0011c0040t0001g0171 a0011c0054t0001g0026 a0011c0055t0001g0018 a0013c0025t0001g0097 a0013c0025t0001g0127	17	274	0.0620	c.722 others(3): Show c.722G>A	p.Arg others(6): Show p.Arg241His	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	4/22	855/6783	722/3636	241/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179207703	T T	C C	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02922.hp2 HG02970.hp1 others(6): Show HG02280.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 NA18522.hp1 NA19030.hp2	a0002 a0008 a0012 a0002 a0008 a0012	a0002c0104 a0008c0036 a0008c0053 others(4): Show a0002c0104 a0008c0036 a0008c0053 a0008c0078 a0008c0079 a0012c0037 a0012c0080	a0002c0104t0027 a0008c0036t0004 a0008c0036t0007 others(5): Show a0002c0104t0027 a0008c0036t0004 a0008c0036t0007 a0008c0053t0007 a0008c0078t0001 a0008c0079t0011 a0012c0037t0001 a0012c0080t0012	a0002c0104t0027g0221 a0008c0036t0004g0062 a0008c0036t0007g0036 others(6): Show a0002c0104t0027g0221 a0008c0036t0004g0062 a0008c0036t0007g0036 a0008c0053t0007g0147 a0008c0078t0001g0059 a0008c0079t0011g0074 a0012c0037t0001g0046 a0012c0037t0001g0130 a0012c0080t0012g0192	9	274	0.0328	c.701 others(3): Show c.701A>G	p.Asp others(6): Show p.Asp234Gly	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	4/22	834/6783	701/3636	234/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179207715	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0019 a0019	a0019c0081 a0019c0081	a0019c0081t0028 a0019c0081t0028	a0019c0081t0028g0051 a0019c0081t0028g0051	1	274	0.0036	c.689 others(3): Show c.689G>T	p.Gly others(6): Show p.Gly230Val	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	4/22	822/6783	689/3636	230/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179344081	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp1 HG03669.hp1 NA18952.hp1 others(4): Show HG00408.hp1 HG03669.hp1 NA18952.hp1 NA18954.hp1 NA18971.hp2 NA18982.hp1 NA19070.hp1	a0006 a0006	a0006c0038 a0006c0088 a0006c0089 others(3): Show a0006c0038 a0006c0088 a0006c0089 a0006c0090 a0006c0091 a0006c0092	a0006c0038t0002 a0006c0038t0019 a0006c0088t0003 others(4): Show a0006c0038t0002 a0006c0038t0019 a0006c0088t0003 a0006c0089t0006 a0006c0090t0016 a0006c0091t0002 a0006c0092t0004	a0006c0038t0002g0214 a0006c0038t0019g0213 a0006c0088t0003g0215 others(4): Show a0006c0038t0002g0214 a0006c0038t0019g0213 a0006c0088t0003g0215 a0006c0089t0006g0218 a0006c0090t0016g0216 a0006c0091t0002g0219 a0006c0092t0004g0217	7	274	0.0255	c.220 others(3): Show c.220G>A	p.Val others(5): Show p.Val74Met	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/22	353/6783	220/3636	74/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179345235	G G	A A	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02976.hp2 HG02258.hp2 HG02976.hp2	a0015 a0015	a0015c0083 a0015c0084 a0015c0083 a0015c0084	a0015c0083t0001 a0015c0084t0008 a0015c0083t0001 a0015c0084t0008	a0015c0083t0001g0199 a0015c0084t0008g0198 a0015c0083t0001g0199 a0015c0084t0008g0198	2	274	0.0073	c.94C others(2): Show c.94C>T	p.Pro others(5): Show p.Pro32Ser	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	1/22	227/6783	94/3636	32/1211	chr5	TogoVar

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