Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
ADAMTS7_chr15_78754206_78816464	78788282	G G	A A	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02559.hp1 HG03471.hp2 HG02257.hp2 HG02559.hp1 HG03471.hp2	a0027 a0052 a0027 a0052	a0027c0035 a0052c0076 a0027c0035 a0052c0076	a0027c0035t0007 a0052c0076t0007 a0027c0035t0007 a0052c0076t0007	a0027c0035t0007g0345 a0027c0035t0007g0347 a0052c0076t0007g0346 a0027c0035t0007g0345 a0027c0035t0007g0347 a0052c0076t0007g0346	3	378	0.0079	c.127 others(4): Show c.1271C>T	p.Ala others(6): Show p.Ala424Val	ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	8/24	1515/5520	1271/5061	424/1686	chr15	TogoVar
ADAMTS7_chr15_78754206_78816464	78789690	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19077.hp2 NA19077.hp2	a0072 a0072	a0072c0063 a0072c0063	a0072c0063t0001 a0072c0063t0001	a0072c0063t0001g0213 a0072c0063t0001g0213	1	378	0.0026	c.117 others(4): Show c.1177A>C	p.Ser others(6): Show p.Ser393Arg	ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	7/24	1421/5520	1177/5061	393/1686	chr15	TogoVar
ADAMTS7_chr15_78754206_78816464	78790778	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp2 HG00438.hp2 others(122): Show HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18984.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19080.hp2 NA19083.hp2 NA19088.hp1 NA19090.hp1 NA20905.hp1 NA21309.hp2	a0001 a0009 a0013 others(24): Show a0001 a0009 a0013 a0014 a0018 a0019 a0020 a0023 a0024 a0025 a0026 a0028 a0030 a0031 a0039 a0042 a0049 a0051 a0053 a0054 a0057 a0058 a0060 a0062 a0063 a0065 a0071	a0001c0002 a0001c0006 a0001c0014 others(43): Show a0001c0002 a0001c0006 a0001c0014 a0001c0021 a0001c0026 a0001c0027 a0001c0038 a0001c0043 a0001c0044 a0001c0096 a0001c0099 a0001c0100 a0001c0102 a0001c0103 a0001c0105 a0009c0009 a0013c0019 a0013c0093 a0013c0104 a0014c0016 a0018c0042 a0018c0098 a0018c0101 a0019c0025 a0020c0024 a0023c0041 a0024c0037 a0025c0039 a0026c0077 a0026c0097 a0028c0032 a0030c0040 a0031c0036 a0039c0086 a0042c0064 a0049c0088 a0051c0091 a0053c0087 a0054c0092 a0057c0095 a0058c0048 a0060c0078 a0062c0094 a0063c0120 a0065c0090 a0071c0089	a0001c0002t0001 a0001c0002t0008 a0001c0006t0001 others(44): Show a0001c0002t0001 a0001c0002t0008 a0001c0006t0001 a0001c0014t0001 a0001c0021t0001 a0001c0026t0001 a0001c0027t0001 a0001c0038t0001 a0001c0043t0001 a0001c0044t0001 a0001c0096t0001 a0001c0099t0001 a0001c0100t0001 a0001c0102t0001 a0001c0103t0001 a0001c0105t0002 a0009c0009t0001 a0013c0019t0001 a0013c0093t0001 a0013c0104t0001 a0014c0016t0002 a0018c0042t0001 a0018c0098t0001 a0018c0101t0001 a0019c0025t0001 a0020c0024t0001 a0023c0041t0001 a0024c0037t0001 a0025c0039t0001 a0026c0077t0006 a0026c0097t0001 a0028c0032t0001 a0030c0040t0001 a0031c0036t0001 a0039c0086t0001 a0042c0064t0001 a0049c0088t0001 a0051c0091t0001 a0053c0087t0002 a0054c0092t0001 a0057c0095t0001 a0058c0048t0004 a0060c0078t0001 a0062c0094t0001 a0063c0120t0001 a0065c0090t0001 a0071c0089t0001	a0001c0002t0001g0019 a0001c0002t0001g0023 a0001c0002t0001g0053 others(112): Show a0001c0002t0001g0019 a0001c0002t0001g0023 a0001c0002t0001g0053 a0001c0002t0001g0241 a0001c0002t0001g0263 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0274 a0001c0002t0001g0279 a0001c0002t0001g0283 a0001c0002t0001g0286 a0001c0002t0001g0291 a0001c0002t0001g0306 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0008g0265 a0001c0006t0001g0006 a0001c0006t0001g0018 a0001c0006t0001g0031 a0001c0006t0001g0032 a0001c0006t0001g0033 a0001c0006t0001g0034 a0001c0006t0001g0037 a0001c0006t0001g0040 a0001c0006t0001g0041 a0001c0006t0001g0054 a0001c0006t0001g0273 a0001c0006t0001g0280 a0001c0006t0001g0293 a0001c0014t0001g0002 a0001c0014t0001g0051 a0001c0014t0001g0109 a0001c0014t0001g0289 a0001c0021t0001g0222 a0001c0021t0001g0223 a0001c0021t0001g0224 a0001c0026t0001g0260 a0001c0026t0001g0276 a0001c0026t0001g0292 a0001c0027t0001g0106 a0001c0027t0001g0107 a0001c0027t0001g0108 a0001c0038t0001g0281 a0001c0038t0001g0300 a0001c0043t0001g0272 a0001c0043t0001g0275 a0001c0044t0001g0302 a0001c0044t0001g0331 a0001c0096t0001g0305 a0001c0099t0001g0301 a0001c0100t0001g0244 a0001c0102t0001g0262 a0001c0103t0001g0261 a0001c0105t0002g0299 a0009c0009t0001g0020 a0009c0009t0001g0021 a0009c0009t0001g0035 a0009c0009t0001g0042 a0009c0009t0001g0043 a0009c0009t0001g0044 a0009c0009t0001g0282 a0009c0009t0001g0290 a0009c0009t0001g0294 a0013c0019t0001g0243 a0013c0019t0001g0277 a0013c0019t0001g0287 a0013c0019t0001g0298 a0013c0093t0001g0288 a0013c0104t0001g0249 a0014c0016t0002g0251 a0014c0016t0002g0252 a0014c0016t0002g0253 a0014c0016t0002g0254 a0014c0016t0002g0285 a0018c0042t0001g0038 a0018c0042t0001g0039 a0018c0098t0001g0060 a0018c0101t0001g0284 a0019c0025t0001g0055 a0019c0025t0001g0056 a0019c0025t0001g0057 a0020c0024t0001g0022 a0020c0024t0001g0242 a0023c0041t0001g0110 a0023c0041t0001g0111 a0024c0037t0001g0058 a0024c0037t0001g0061 a0025c0039t0001g0271 a0025c0039t0001g0303 a0026c0077t0006g0029 a0026c0097t0001g0264 a0028c0032t0001g0195 a0028c0032t0001g0226 a0030c0040t0001g0245 a0030c0040t0001g0246 a0031c0036t0001g0338 a0031c0036t0001g0339 a0039c0086t0001g0036 a0042c0064t0001g0225 a0049c0088t0001g0278 a0051c0091t0001g0250 a0053c0087t0002g0052 a0054c0092t0001g0240 a0057c0095t0001g0059 a0058c0048t0004g0247 a0060c0078t0001g0337 a0062c0094t0001g0296 a0063c0120t0001g0114 a0065c0090t0001g0268 a0071c0089t0001g0297	125	378	0.3307	c.920 others(3): Show c.920C>T	p.Thr others(6): Show p.Thr307Met	ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	6/24	1164/5520	920/5061	307/1686	chr15	TogoVar
ADAMTS7_chr15_78754206_78816464	78796769	A A	G G	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(73): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01081.hp1 HG01099.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp2 HG02109.hp2 HG02622.hp2 HG02698.hp2 HG02735.hp2 HG02818.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18945.hp1 NA18955.hp1 NA18956.hp1 NA18964.hp2 NA18966.hp1 NA18981.hp2 NA18992.hp2 NA18997.hp2 NA19000.hp2 NA19002.hp1 NA19010.hp2 NA19065.hp2 NA19068.hp2 NA19081.hp1 NA19085.hp1 NA19087.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0005 a0006 a0008 others(13): Show a0005 a0006 a0008 a0010 a0029 a0033 a0040 a0043 a0044 a0048 a0050 a0055 a0061 a0063 a0070 a0073	a0005c0005 a0005c0047 a0005c0108 others(20): Show a0005c0005 a0005c0047 a0005c0108 a0006c0007 a0006c0045 a0006c0106 a0006c0119 a0008c0008 a0010c0013 a0010c0113 a0029c0114 a0029c0115 a0033c0046 a0040c0121 a0043c0118 a0044c0107 a0048c0117 a0050c0111 a0055c0112 a0061c0109 a0063c0120 a0070c0116 a0073c0110	a0005c0005t0002 a0005c0005t0011 a0005c0047t0002 others(21): Show a0005c0005t0002 a0005c0005t0011 a0005c0047t0002 a0005c0108t0002 a0006c0007t0001 a0006c0045t0001 a0006c0106t0001 a0006c0119t0001 a0008c0008t0002 a0010c0013t0003 a0010c0113t0003 a0029c0114t0001 a0029c0115t0001 a0033c0046t0001 a0040c0121t0001 a0043c0118t0001 a0044c0107t0002 a0048c0117t0001 a0050c0111t0001 a0055c0112t0001 a0061c0109t0002 a0063c0120t0001 a0070c0116t0001 a0073c0110t0002	a0005c0005t0002g0009 a0005c0005t0002g0012 a0005c0005t0002g0115 others(67): Show a0005c0005t0002g0009 a0005c0005t0002g0012 a0005c0005t0002g0115 a0005c0005t0002g0117 a0005c0005t0002g0119 a0005c0005t0002g0120 a0005c0005t0002g0121 a0005c0005t0002g0122 a0005c0005t0002g0124 a0005c0005t0002g0125 a0005c0005t0002g0126 a0005c0005t0002g0127 a0005c0005t0002g0128 a0005c0005t0002g0131 a0005c0005t0002g0171 a0005c0005t0002g0235 a0005c0005t0002g0236 a0005c0005t0011g0118 a0005c0047t0002g0140 a0005c0047t0002g0141 a0005c0108t0002g0129 a0006c0007t0001g0005 a0006c0007t0001g0011 a0006c0007t0001g0116 a0006c0007t0001g0130 a0006c0007t0001g0157 a0006c0007t0001g0158 a0006c0007t0001g0167 a0006c0007t0001g0168 a0006c0007t0001g0169 a0006c0007t0001g0170 a0006c0007t0001g0237 a0006c0045t0001g0149 a0006c0045t0001g0150 a0006c0106t0001g0156 a0006c0119t0001g0159 a0008c0008t0002g0010 a0008c0008t0002g0132 a0008c0008t0002g0133 a0008c0008t0002g0134 a0008c0008t0002g0135 a0008c0008t0002g0137 a0008c0008t0002g0138 a0008c0008t0002g0139 a0008c0008t0002g0142 a0008c0008t0002g0143 a0008c0008t0002g0239 a0010c0013t0003g0151 a0010c0013t0003g0154 a0010c0013t0003g0155 a0010c0013t0003g0160 a0010c0013t0003g0162 a0010c0013t0003g0163 a0010c0013t0003g0164 a0010c0013t0003g0165 a0010c0113t0003g0113 a0029c0114t0001g0050 a0029c0115t0001g0146 a0033c0046t0001g0153 a0033c0046t0001g0161 a0040c0121t0001g0049 a0043c0118t0001g0136 a0044c0107t0002g0123 a0048c0117t0001g0152 a0050c0111t0001g0148 a0055c0112t0001g0147 a0061c0109t0002g0145 a0063c0120t0001g0114 a0070c0116t0001g0166 a0073c0110t0002g0144	76	378	0.2011	c.640 others(3): Show c.640T>C	p.Ser others(6): Show p.Ser214Pro	ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	4/24	884/5520	640/5061	214/1686	chr15	TogoVar
ADAMTS7_chr15_78754206_78816464	78800526	G G	T T	missense_variant missense_variant	MODERATE	HG03098.hp2 HG03098.hp2	a0058 a0058	a0058c0048 a0058c0048	a0058c0048t0004 a0058c0048t0004	a0058c0048t0004g0247 a0058c0048t0004g0247	1	378	0.0026	c.122 others(3): Show c.122C>A	p.Ala others(5): Show p.Ala41Glu	ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	2/24	366/5520	122/5061	41/1686	chr15	TogoVar
ADAMTS8_chr11_130399923_130433609	130405645	G G	C C	missense_variant missense_variant	MODERATE	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0002	a0001c0029t0002g0148 a0001c0029t0002g0148	1	422	0.0024	c.258 others(4): Show c.2583C>G	p.Asp others(6): Show p.Asp861Glu	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	9/9	2906/3628	2583/2670	861/889	chr11	TogoVar
ADAMTS8_chr11_130399923_130433609	130405782	T T	A A	missense_variant missense_variant	MODERATE	HG02965.hp2 HG03516.hp1 HG02965.hp2 HG03516.hp1	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0003 a0012c0019t0003	a0012c0019t0003g0032 a0012c0019t0003g0032	2	422	0.0047	c.244 others(4): Show c.2446A>T	p.Met others(6): Show p.Met816Leu	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	9/9	2769/3628	2446/2670	816/889	chr11	TogoVar
ADAMTS8_chr11_130399923_130433609	130405854	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp2 HG00733.hp1 HG00735.hp1 others(25): Show HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01978.hp2 HG02148.hp2 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG03654.hp1 HG03834.hp1 HG04228.hp2 NA20805.hp1 NA20805.hp2	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0008 a0004c0011 a0010c0018 others(1): Show a0001c0008 a0004c0011 a0010c0018 a0010c0020	a0001c0008t0001 a0004c0011t0002 a0010c0018t0002 others(1): Show a0001c0008t0001 a0004c0011t0002 a0010c0018t0002 a0010c0020t0008	a0001c0008t0001g0002 a0001c0008t0001g0028 a0001c0008t0001g0029 others(16): Show a0001c0008t0001g0002 a0001c0008t0001g0028 a0001c0008t0001g0029 a0001c0008t0001g0064 a0001c0008t0001g0070 a0001c0008t0001g0074 a0001c0008t0001g0115 a0001c0008t0001g0134 a0004c0011t0002g0285 a0004c0011t0002g0286 a0004c0011t0002g0291 a0004c0011t0002g0292 a0004c0011t0002g0293 a0004c0011t0002g0295 a0004c0011t0002g0296 a0010c0018t0002g0164 a0010c0018t0002g0173 a0010c0020t0008g0299 a0010c0020t0008g0301	28	422	0.0664	c.237 others(4): Show c.2374A>G	p.Thr others(6): Show p.Thr792Ala	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	9/9	2697/3628	2374/2670	792/889	chr11	TogoVar
ADAMTS8_chr11_130399923_130433609	130405899	G G	T T	missense_variant missense_variant	MODERATE	NA19011.hp2 NA19011.hp2	a0020 a0020	a0020c0044 a0020c0044	a0020c0044t0003 a0020c0044t0003	a0020c0044t0003g0187 a0020c0044t0003g0187	1	422	0.0024	c.232 others(4): Show c.2329C>A	p.Gln others(6): Show p.Gln777Lys	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	9/9	2652/3628	2329/2670	777/889	chr11	TogoVar
ADAMTS8_chr11_130399923_130433609	130411593	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(298): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0006 a0007 a0010 a0011 a0015 a0019 a0021	a0001c0001 a0001c0008 a0001c0010 others(24): Show a0001c0001 a0001c0008 a0001c0010 a0001c0025 a0001c0026 a0001c0027 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0035 a0003c0002 a0003c0017 a0004c0009 a0004c0011 a0004c0023 a0004c0024 a0004c0049 a0006c0006 a0007c0007 a0007c0040 a0010c0018 a0010c0020 a0011c0021 a0015c0041 a0019c0034 a0021c0046	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0008t0001 a0001c0010t0001 a0001c0010t0002 a0001c0010t0005 a0001c0025t0001 a0001c0026t0001 a0001c0027t0001 a0001c0029t0002 a0001c0030t0005 a0001c0031t0002 a0001c0032t0004 a0001c0035t0002 a0003c0002t0002 a0003c0002t0004 a0003c0002t0007 a0003c0002t0008 a0003c0002t0016 a0003c0017t0002 a0004c0009t0002 a0004c0011t0002 a0004c0023t0009 a0004c0024t0009 a0004c0024t0011 a0004c0049t0002 a0006c0006t0002 a0006c0006t0003 a0006c0006t0004 a0007c0007t0002 a0007c0007t0004 a0007c0007t0008 a0007c0007t0013 a0007c0040t0002 a0010c0018t0002 a0010c0020t0008 a0011c0021t0007 a0011c0021t0008 a0015c0041t0007 a0019c0034t0001 a0021c0046t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(211): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0004g0152 a0001c0001t0005g0020 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0081 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0092 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0118 a0001c0001t0005g0131 a0001c0001t0012g0063 a0001c0008t0001g0002 a0001c0008t0001g0028 a0001c0008t0001g0029 a0001c0008t0001g0064 a0001c0008t0001g0070 a0001c0008t0001g0074 a0001c0008t0001g0115 a0001c0008t0001g0134 a0001c0010t0001g0075 a0001c0010t0001g0076 a0001c0010t0001g0077 a0001c0010t0001g0078 a0001c0010t0001g0082 a0001c0010t0001g0086 a0001c0010t0001g0119 a0001c0010t0002g0150 a0001c0010t0005g0079 a0001c0025t0001g0050 a0001c0026t0001g0051 a0001c0027t0001g0052 a0001c0029t0002g0148 a0001c0030t0005g0085 a0001c0031t0002g0144 a0001c0032t0004g0153 a0001c0035t0002g0154 a0003c0002t0002g0014 a0003c0002t0002g0033 a0003c0002t0002g0036 a0003c0002t0002g0040 a0003c0002t0002g0189 a0003c0002t0002g0190 a0003c0002t0002g0192 a0003c0002t0002g0197 a0003c0002t0002g0199 a0003c0002t0002g0205 a0003c0002t0002g0210 a0003c0002t0002g0215 a0003c0002t0002g0219 a0003c0002t0002g0229 a0003c0002t0002g0230 a0003c0002t0002g0231 a0003c0002t0002g0243 a0003c0002t0002g0245 a0003c0002t0002g0247 a0003c0002t0004g0006 a0003c0002t0004g0015 a0003c0002t0004g0034 a0003c0002t0004g0039 a0003c0002t0004g0188 a0003c0002t0004g0203 a0003c0002t0004g0208 a0003c0002t0004g0209 a0003c0002t0004g0214 a0003c0002t0004g0237 a0003c0002t0007g0044 a0003c0002t0007g0045 a0003c0002t0007g0300 a0003c0002t0007g0307 a0003c0002t0007g0309 a0003c0002t0007g0312 a0003c0002t0008g0308 a0003c0002t0008g0314 a0003c0002t0008g0315 a0003c0002t0016g0313 a0003c0017t0002g0165 a0003c0017t0002g0172 a0004c0009t0002g0017 a0004c0009t0002g0018 a0004c0009t0002g0278 a0004c0009t0002g0279 a0004c0009t0002g0280 a0004c0009t0002g0281 a0004c0009t0002g0282 a0004c0009t0002g0283 a0004c0009t0002g0284 a0004c0009t0002g0288 a0004c0009t0002g0289 a0004c0009t0002g0294 a0004c0011t0002g0285 a0004c0011t0002g0286 a0004c0011t0002g0291 a0004c0011t0002g0292 a0004c0011t0002g0293 a0004c0011t0002g0295 a0004c0011t0002g0296 a0004c0023t0009g0046 a0004c0023t0009g0047 a0004c0024t0009g0049 a0004c0024t0011g0048 a0004c0049t0002g0277 a0006c0006t0002g0248 a0006c0006t0002g0252 a0006c0006t0002g0254 a0006c0006t0002g0257 a0006c0006t0002g0261 a0006c0006t0002g0264 a0006c0006t0002g0271 a0006c0006t0002g0272 a0006c0006t0002g0274 a0006c0006t0003g0260 a0006c0006t0004g0041 a0006c0006t0004g0250 a0006c0006t0004g0251 a0006c0006t0004g0253 a0006c0006t0004g0259 a0006c0006t0004g0262 a0006c0006t0004g0265 a0006c0006t0004g0266 a0006c0006t0004g0267 a0006c0006t0004g0268 a0006c0006t0004g0269 a0006c0006t0004g0270 a0007c0007t0002g0198 a0007c0007t0002g0221 a0007c0007t0002g0222 a0007c0007t0002g0224 a0007c0007t0002g0225 a0007c0007t0002g0226 a0007c0007t0002g0232 a0007c0007t0002g0234 a0007c0007t0002g0235 a0007c0007t0002g0240 a0007c0007t0002g0244 a0007c0007t0004g0220 a0007c0007t0004g0223 a0007c0007t0004g0228 a0007c0007t0004g0241 a0007c0007t0008g0302 a0007c0007t0008g0305 a0007c0007t0008g0306 a0007c0007t0013g0143 a0007c0040t0002g0186 a0010c0018t0002g0164 a0010c0018t0002g0173 a0010c0020t0008g0299 a0010c0020t0008g0301 a0011c0021t0007g0303 a0011c0021t0008g0304 a0015c0041t0007g0311 a0019c0034t0001g0140 a0021c0046t0002g0276	301	422	0.7133	c.157 others(4): Show c.1574C>T	p.Ala others(6): Show p.Ala525Val	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	6/9	1897/3628	1574/2670	525/889	chr11	TogoVar
ADAMTS8_chr11_130399923_130433609	130414724	G G	T T	missense_variant missense_variant	MODERATE	HG01496.hp1 NA21309.hp1 HG01496.hp1 NA21309.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0007 a0011c0021t0008 a0011c0021t0007 a0011c0021t0008	a0011c0021t0007g0303 a0011c0021t0008g0304 a0011c0021t0007g0303 a0011c0021t0008g0304	2	422	0.0047	c.137 others(4): Show c.1373C>A	p.Pro others(6): Show p.Pro458Gln	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	5/9	1696/3628	1373/2670	458/889	chr11	TogoVar
ADAMTS8_chr11_130399923_130433609	130416270	A A	G G	missense_variant missense_variant	MODERATE	HG03195.hp1 HG03195.hp1	a0015 a0015	a0015c0041 a0015c0041	a0015c0041t0007 a0015c0041t0007	a0015c0041t0007g0311 a0015c0041t0007g0311	1	422	0.0024	c.115 others(4): Show c.1157T>C	p.Met others(6): Show p.Met386Thr	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	4/9	1480/3628	1157/2670	386/889	chr11	TogoVar
ADAMTS8_chr11_130399923_130433609	130416985	C C	T T	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0048 a0004c0048	a0004c0048t0002 a0004c0048t0002	a0004c0048t0002g0297 a0004c0048t0002g0297	1	422	0.0024	c.105 others(4): Show c.1051G>A	p.Glu others(6): Show p.Glu351Lys	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	3/9	1374/3628	1051/2670	351/889	chr11	TogoVar
ADAMTS8_chr11_130399923_130433609	130419222	T T	C C	missense_variant missense_variant	MODERATE	HG00621.hp2 HG00741.hp2 HG01243.hp2 others(39): Show HG00621.hp2 HG00741.hp2 HG01243.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01884.hp2 HG02027.hp2 HG02055.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03710.hp2 HG06807.hp1 NA18747.hp1 NA18943.hp1 NA18956.hp2 NA18959.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18987.hp2 NA18998.hp1 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0004 a0007 others(5): Show a0001 a0004 a0007 a0009 a0011 a0013 a0014 a0016	a0001c0010 a0004c0024 a0004c0049 others(7): Show a0001c0010 a0004c0024 a0004c0049 a0007c0007 a0007c0040 a0009c0012 a0011c0021 a0013c0047 a0014c0037 a0016c0045	a0001c0010t0001 a0001c0010t0002 a0001c0010t0005 others(14): Show a0001c0010t0001 a0001c0010t0002 a0001c0010t0005 a0004c0024t0009 a0004c0024t0011 a0004c0049t0002 a0007c0007t0002 a0007c0007t0004 a0007c0007t0008 a0007c0007t0013 a0007c0040t0002 a0009c0012t0003 a0011c0021t0007 a0011c0021t0008 a0013c0047t0003 a0014c0037t0002 a0016c0045t0003	a0001c0010t0001g0075 a0001c0010t0001g0076 a0001c0010t0001g0077 others(38): Show a0001c0010t0001g0075 a0001c0010t0001g0076 a0001c0010t0001g0077 a0001c0010t0001g0078 a0001c0010t0001g0082 a0001c0010t0001g0086 a0001c0010t0001g0119 a0001c0010t0002g0150 a0001c0010t0005g0079 a0004c0024t0009g0049 a0004c0024t0011g0048 a0004c0049t0002g0277 a0007c0007t0002g0198 a0007c0007t0002g0221 a0007c0007t0002g0222 a0007c0007t0002g0224 a0007c0007t0002g0225 a0007c0007t0002g0226 a0007c0007t0002g0232 a0007c0007t0002g0234 a0007c0007t0002g0235 a0007c0007t0002g0240 a0007c0007t0002g0244 a0007c0007t0004g0220 a0007c0007t0004g0223 a0007c0007t0004g0228 a0007c0007t0004g0241 a0007c0007t0008g0302 a0007c0007t0008g0305 a0007c0007t0008g0306 a0007c0007t0013g0143 a0007c0040t0002g0186 a0009c0012t0003g0037 a0009c0012t0003g0218 a0009c0012t0003g0227 a0009c0012t0003g0239 a0011c0021t0007g0303 a0011c0021t0008g0304 a0013c0047t0003g0275 a0014c0037t0002g0183 a0016c0045t0003g0258	42	422	0.0995	c.791 others(3): Show c.791A>G	p.Asn others(6): Show p.Asn264Ser	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	2/9	1114/3628	791/2670	264/889	chr11	TogoVar
ADAMTS8_chr11_130399923_130433609	130427746	C C	G G	missense_variant missense_variant	MODERATE	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0051 a0001c0026t0001g0051	1	422	0.0024	c.541 others(3): Show c.541G>C	p.Asp others(6): Show p.Asp181His	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	1/9	864/3628	541/2670	181/889	chr11	TogoVar
ADAMTS8_chr11_130399923_130433609	130427853	G G	C C	missense_variant missense_variant	MODERATE	HG00544.hp2 HG00621.hp1 HG00733.hp2 others(31): Show HG00544.hp2 HG00621.hp1 HG00733.hp2 HG00741.hp2 HG01109.hp1 HG01361.hp1 HG02132.hp2 HG02135.hp1 HG02258.hp2 HG02622.hp1 HG02698.hp2 HG02717.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp2 HG03239.hp1 HG03540.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18941.hp2 NA18965.hp2 NA18975.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA19000.hp1 NA19006.hp2 NA19068.hp2 NA19091.hp2	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0008 a0016	a0001c0032 a0004c0024 a0006c0006 others(3): Show a0001c0032 a0004c0024 a0006c0006 a0008c0013 a0008c0022 a0016c0045	a0001c0032t0004 a0004c0024t0009 a0004c0024t0011 others(7): Show a0001c0032t0004 a0004c0024t0009 a0004c0024t0011 a0006c0006t0002 a0006c0006t0003 a0006c0006t0004 a0008c0013t0002 a0008c0013t0003 a0008c0022t0003 a0016c0045t0003	a0001c0032t0004g0153 a0004c0024t0009g0049 a0004c0024t0011g0048 others(29): Show a0001c0032t0004g0153 a0004c0024t0009g0049 a0004c0024t0011g0048 a0006c0006t0002g0248 a0006c0006t0002g0252 a0006c0006t0002g0254 a0006c0006t0002g0257 a0006c0006t0002g0261 a0006c0006t0002g0264 a0006c0006t0002g0271 a0006c0006t0002g0272 a0006c0006t0002g0274 a0006c0006t0003g0260 a0006c0006t0004g0041 a0006c0006t0004g0250 a0006c0006t0004g0251 a0006c0006t0004g0253 a0006c0006t0004g0259 a0006c0006t0004g0262 a0006c0006t0004g0265 a0006c0006t0004g0266 a0006c0006t0004g0267 a0006c0006t0004g0268 a0006c0006t0004g0269 a0006c0006t0004g0270 a0008c0013t0002g0042 a0008c0013t0002g0249 a0008c0013t0002g0263 a0008c0013t0003g0273 a0008c0022t0003g0255 a0008c0022t0003g0256 a0016c0045t0003g0258	34	422	0.0806	c.434 others(3): Show c.434C>G	p.Ala others(6): Show p.Ala145Gly	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	1/9	757/3628	434/2670	145/889	chr11	TogoVar
ADAMTS8_chr11_130399923_130433609	130427892	T T	G G	missense_variant missense_variant	MODERATE	NA18942.hp2 NA19004.hp1 NA18942.hp2 NA19004.hp1	a0017 a0019 a0017 a0019	a0017c0033 a0019c0034 a0017c0033 a0019c0034	a0017c0033t0001 a0019c0034t0001 a0017c0033t0001 a0019c0034t0001	a0017c0033t0001g0139 a0019c0034t0001g0140 a0017c0033t0001g0139 a0019c0034t0001g0140	2	422	0.0047	c.395 others(3): Show c.395A>C	p.Glu others(6): Show p.Glu132Ala	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	1/9	718/3628	395/2670	132/889	chr11	TogoVar
ADAMTS8_chr11_130399923_130433609	130428053	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(194): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp2 HG02683.hp1 HG02886.hp2 HG02922.hp2 HG03098.hp2 HG03209.hp2 HG03453.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0014 a0017 a0018 a0019	a0001c0001 a0001c0008 a0001c0010 others(15): Show a0001c0001 a0001c0008 a0001c0010 a0001c0025 a0001c0026 a0001c0027 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0004c0023 a0005c0005 a0005c0016 a0005c0028 a0014c0037 a0017c0033 a0018c0036 a0019c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0008t0001 a0001c0010t0001 a0001c0010t0002 a0001c0010t0005 a0001c0025t0001 a0001c0026t0001 a0001c0027t0001 a0001c0029t0002 a0001c0030t0005 a0001c0031t0002 a0001c0032t0004 a0004c0023t0009 a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0005c0005t0006 a0005c0016t0006 a0005c0028t0001 a0014c0037t0002 a0017c0033t0001 a0018c0036t0006 a0019c0034t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(123): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0004g0152 a0001c0001t0005g0020 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0081 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0092 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0118 a0001c0001t0005g0131 a0001c0001t0012g0063 a0001c0008t0001g0002 a0001c0008t0001g0028 a0001c0008t0001g0029 a0001c0008t0001g0064 a0001c0008t0001g0070 a0001c0008t0001g0074 a0001c0008t0001g0115 a0001c0008t0001g0134 a0001c0010t0001g0075 a0001c0010t0001g0076 a0001c0010t0001g0077 a0001c0010t0001g0078 a0001c0010t0001g0082 a0001c0010t0001g0086 a0001c0010t0001g0119 a0001c0010t0002g0150 a0001c0010t0005g0079 a0001c0025t0001g0050 a0001c0026t0001g0051 a0001c0027t0001g0052 a0001c0029t0002g0148 a0001c0030t0005g0085 a0001c0031t0002g0144 a0001c0032t0004g0153 a0004c0023t0009g0046 a0004c0023t0009g0047 a0005c0005t0001g0019 a0005c0005t0001g0067 a0005c0005t0001g0104 a0005c0005t0001g0106 a0005c0005t0001g0120 a0005c0005t0001g0124 a0005c0005t0001g0127 a0005c0005t0002g0146 a0005c0005t0003g0145 a0005c0005t0006g0024 a0005c0005t0006g0025 a0005c0005t0006g0030 a0005c0005t0006g0054 a0005c0005t0006g0103 a0005c0005t0006g0108 a0005c0005t0006g0117 a0005c0005t0006g0128 a0005c0005t0006g0132 a0005c0005t0006g0133 a0005c0005t0006g0135 a0005c0016t0006g0073 a0005c0016t0006g0080 a0005c0028t0001g0060 a0014c0037t0002g0183 a0017c0033t0001g0139 a0018c0036t0006g0141 a0019c0034t0001g0140	197	422	0.4668	c.234 others(3): Show c.234G>C	p.Glu others(5): Show p.Glu78Asp	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	1/9	557/3628	234/2670	78/889	chr11	TogoVar
ADAMTS8_chr11_130399923_130433609	130428156	G G	A A	missense_variant missense_variant	MODERATE	HG01261.hp1 NA19043.hp2 HG01261.hp1 NA19043.hp2	a0013 a0021 a0013 a0021	a0013c0047 a0021c0046 a0013c0047 a0021c0046	a0013c0047t0003 a0021c0046t0002 a0013c0047t0003 a0021c0046t0002	a0013c0047t0003g0275 a0021c0046t0002g0276 a0013c0047t0003g0275 a0021c0046t0002g0276	2	422	0.0047	c.131 others(3): Show c.131C>T	p.Thr others(5): Show p.Thr44Met	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	1/9	454/3628	131/2670	44/889	chr11	TogoVar
ADAMTS9_chr3_64510654_64693000	64522181	C C	T T	missense_variant missense_variant	MODERATE	HG01978.hp1 HG02040.hp2 HG02273.hp2 others(7): Show HG01978.hp1 HG02040.hp2 HG02273.hp2 HG04184.hp1 NA18946.hp1 NA18974.hp2 NA19058.hp2 NA19062.hp1 NA19077.hp2 NA19082.hp1	a0006 a0008 a0015 others(1): Show a0006 a0008 a0015 a0021	a0006c0011 a0008c0012 a0015c0019 others(1): Show a0006c0011 a0008c0012 a0015c0019 a0021c0038	a0006c0011t0004 a0008c0012t0004 a0015c0019t0004 others(1): Show a0006c0011t0004 a0008c0012t0004 a0015c0019t0004 a0021c0038t0004	a0006c0011t0004g0086 a0006c0011t0004g0156 a0006c0011t0004g0157 others(7): Show a0006c0011t0004g0086 a0006c0011t0004g0156 a0006c0011t0004g0157 a0006c0011t0004g0179 a0008c0012t0004g0034 a0008c0012t0004g0039 a0008c0012t0004g0050 a0015c0019t0004g0161 a0015c0019t0004g0200 a0021c0038t0004g0174	10	284	0.0352	c.579 others(4): Show c.5798G>A	p.Arg others(7): Show p.Arg1933Gln	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	39/40	6141/7624	5798/5808	1933/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64539283	G G	C C	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0023 a0023	a0023c0036 a0023c0036	a0023c0036t0002 a0023c0036t0002	a0023c0036t0002g0214 a0023c0036t0002g0214	1	284	0.0035	c.553 others(4): Show c.5533C>G	p.Gln others(7): Show p.Gln1845Glu	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	37/40	5876/7624	5533/5808	1845/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64541139	C C	T T	missense_variant missense_variant	MODERATE	HG02723.hp1 HG03453.hp1 HG02723.hp1 HG03453.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0006 a0013c0018t0006	a0013c0018t0006g0173 a0013c0018t0006g0243 a0013c0018t0006g0173 a0013c0018t0006g0243	2	284	0.0070	c.547 others(4): Show c.5477G>A	p.Ser others(7): Show p.Ser1826Asn	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	36/40	5820/7624	5477/5808	1826/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64541336	C C	G G	missense_variant missense_variant	MODERATE	HG02040.hp2 HG02040.hp2	a0021 a0021	a0021c0038 a0021c0038	a0021c0038t0004 a0021c0038t0004	a0021c0038t0004g0174 a0021c0038t0004g0174	1	284	0.0035	c.537 others(4): Show c.5371G>C	p.Glu others(7): Show p.Glu1791Gln	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	35/40	5714/7624	5371/5808	1791/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64541599	T T	C C	missense_variant missense_variant	MODERATE	HG01978.hp1 HG02040.hp2 HG02273.hp2 others(9): Show HG01978.hp1 HG02040.hp2 HG02273.hp2 HG04184.hp1 NA18946.hp1 NA18965.hp1 NA18974.hp2 NA18991.hp2 NA19058.hp2 NA19062.hp1 NA19077.hp2 NA19082.hp1	a0006 a0008 a0015 others(3): Show a0006 a0008 a0015 a0021 a0025 a0029	a0006c0011 a0008c0012 a0015c0019 others(3): Show a0006c0011 a0008c0012 a0015c0019 a0021c0038 a0025c0039 a0029c0034	a0006c0011t0004 a0008c0012t0004 a0015c0019t0004 others(3): Show a0006c0011t0004 a0008c0012t0004 a0015c0019t0004 a0021c0038t0004 a0025c0039t0002 a0029c0034t0001	a0006c0011t0004g0086 a0006c0011t0004g0156 a0006c0011t0004g0157 others(9): Show a0006c0011t0004g0086 a0006c0011t0004g0156 a0006c0011t0004g0157 a0006c0011t0004g0179 a0008c0012t0004g0034 a0008c0012t0004g0039 a0008c0012t0004g0050 a0015c0019t0004g0161 a0015c0019t0004g0200 a0021c0038t0004g0174 a0025c0039t0002g0146 a0029c0034t0001g0140	12	284	0.0423	c.521 others(4): Show c.5219A>G	p.Lys others(7): Show p.Lys1740Arg	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	34/40	5562/7624	5219/5808	1740/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64546800	G G	C C	missense_variant missense_variant	MODERATE	HG00621.hp2 HG00738.hp2 HG01071.hp2 others(51): Show HG00621.hp2 HG00738.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02895.hp2 HG02970.hp1 HG03041.hp1 HG03195.hp2 HG03453.hp2 NA18522.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18972.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18995.hp2 NA19004.hp1 NA19011.hp1 NA19043.hp2 NA19056.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19077.hp1 NA19084.hp1 NA19240.hp2	a0002 a0004 a0005 others(4): Show a0002 a0004 a0005 a0012 a0020 a0030 a0032	a0002c0002 a0004c0005 a0004c0026 others(5): Show a0002c0002 a0004c0005 a0004c0026 a0005c0008 a0012c0016 a0020c0035 a0030c0043 a0032c0033	a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 others(12): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 a0002c0002t0013 a0004c0005t0001 a0004c0005t0003 a0004c0005t0015 a0004c0026t0001 a0005c0008t0001 a0005c0008t0002 a0005c0008t0003 a0012c0016t0003 a0020c0035t0003 a0030c0043t0003 a0032c0033t0003	a0002c0002t0001g0064 a0002c0002t0001g0121 a0002c0002t0001g0220 others(51): Show a0002c0002t0001g0064 a0002c0002t0001g0121 a0002c0002t0001g0220 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0003g0074 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0102 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0138 a0002c0002t0003g0141 a0002c0002t0003g0142 a0002c0002t0003g0144 a0002c0002t0003g0149 a0002c0002t0003g0150 a0002c0002t0003g0151 a0002c0002t0003g0152 a0002c0002t0003g0153 a0002c0002t0003g0154 a0002c0002t0003g0155 a0002c0002t0003g0160 a0002c0002t0003g0165 a0002c0002t0003g0185 a0002c0002t0003g0190 a0002c0002t0003g0193 a0002c0002t0003g0195 a0002c0002t0003g0196 a0002c0002t0003g0260 a0002c0002t0008g0009 a0002c0002t0013g0016 a0004c0005t0001g0030 a0004c0005t0001g0032 a0004c0005t0001g0036 a0004c0005t0003g0040 a0004c0005t0003g0046 a0004c0005t0003g0047 a0004c0005t0015g0010 a0004c0026t0001g0029 a0005c0008t0001g0094 a0005c0008t0002g0175 a0005c0008t0002g0176 a0005c0008t0002g0188 a0005c0008t0003g0192 a0012c0016t0003g0048 a0012c0016t0003g0049 a0020c0035t0003g0075 a0030c0043t0003g0194 a0032c0033t0003g0261	54	284	0.1901	c.502 others(4): Show c.5022C>G	p.Asp others(7): Show p.Asp1674Glu	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	32/40	5365/7624	5022/5808	1674/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64550972	C C	T T	missense_variant missense_variant	MODERATE	NA18953.hp1 NA18984.hp1 NA18985.hp2 others(2): Show NA18953.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA19066.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0002 a0005c0008t0003 a0005c0008t0001 a0005c0008t0002 a0005c0008t0003	a0005c0008t0001g0094 a0005c0008t0002g0175 a0005c0008t0002g0176 others(2): Show a0005c0008t0001g0094 a0005c0008t0002g0175 a0005c0008t0002g0176 a0005c0008t0002g0188 a0005c0008t0003g0192	5	284	0.0176	c.478 others(4): Show c.4789G>A	p.Val others(7): Show p.Val1597Met	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	31/40	5132/7624	4789/5808	1597/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64561712	C C	A A	missense_variant missense_variant	MODERATE	NA19070.hp2 NA19070.hp2	a0031 a0031	a0031c0044 a0031c0044	a0031c0044t0001 a0031c0044t0001	a0031c0044t0001g0098 a0031c0044t0001g0098	1	284	0.0035	c.456 others(4): Show c.4564G>T	p.Val others(7): Show p.Val1522Leu	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	30/40	4907/7624	4564/5808	1522/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64594392	C C	T T	missense_variant missense_variant	MODERATE	HG01123.hp1 HG01255.hp1 HG01261.hp2 others(14): Show HG01123.hp1 HG01255.hp1 HG01261.hp2 HG01978.hp1 HG02273.hp2 NA18942.hp2 NA18946.hp1 NA18955.hp2 NA18974.hp2 NA18983.hp1 NA18985.hp1 NA18991.hp2 NA19058.hp2 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1	a0006 a0007 a0008 others(4): Show a0006 a0007 a0008 a0012 a0016 a0020 a0029	a0006c0011 a0007c0010 a0008c0012 others(4): Show a0006c0011 a0007c0010 a0008c0012 a0012c0016 a0016c0015 a0020c0035 a0029c0034	a0006c0011t0004 a0007c0010t0001 a0007c0010t0002 others(5): Show a0006c0011t0004 a0007c0010t0001 a0007c0010t0002 a0008c0012t0004 a0012c0016t0003 a0016c0015t0002 a0020c0035t0003 a0029c0034t0001	a0006c0011t0004g0086 a0006c0011t0004g0156 a0006c0011t0004g0157 others(14): Show a0006c0011t0004g0086 a0006c0011t0004g0156 a0006c0011t0004g0157 a0006c0011t0004g0179 a0007c0010t0001g0245 a0007c0010t0001g0264 a0007c0010t0001g0265 a0007c0010t0002g0169 a0008c0012t0004g0034 a0008c0012t0004g0039 a0008c0012t0004g0050 a0012c0016t0003g0048 a0012c0016t0003g0049 a0016c0015t0002g0053 a0016c0015t0002g0055 a0020c0035t0003g0075 a0029c0034t0001g0140	17	284	0.0599	c.422 others(4): Show c.4222G>A	p.Val others(7): Show p.Val1408Ile	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	28/40	4565/7624	4222/5808	1408/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64601994	G G	A A	missense_variant missense_variant	MODERATE	HG02155.hp1 HG02155.hp1	a0022 a0022	a0022c0040 a0022c0040	a0022c0040t0002 a0022c0040t0002	a0022c0040t0002g0148 a0022c0040t0002g0148	1	284	0.0035	c.396 others(4): Show c.3967C>T	p.Arg others(7): Show p.Arg1323Cys	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	26/40	4310/7624	3967/5808	1323/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64604038	C C	G G	missense_variant missense_variant	MODERATE	NA19084.hp1 NA19084.hp1	a0032 a0032	a0032c0033 a0032c0033	a0032c0033t0003 a0032c0033t0003	a0032c0033t0003g0261 a0032c0033t0003g0261	1	284	0.0035	c.363 others(4): Show c.3631G>C	p.Asp others(7): Show p.Asp1211His	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	25/40	3974/7624	3631/5808	1211/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64604297	G G	A A	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03688.hp2 HG03491.hp1 HG03688.hp2	a0014 a0014	a0014c0041 a0014c0054 a0014c0041 a0014c0054	a0014c0041t0001 a0014c0054t0001 a0014c0041t0001 a0014c0054t0001	a0014c0041t0001g0280 a0014c0054t0001g0283 a0014c0041t0001g0280 a0014c0054t0001g0283	2	284	0.0070	c.350 others(4): Show c.3509C>T	p.Ala others(7): Show p.Ala1170Val	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	24/40	3852/7624	3509/5808	1170/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64615994	T T	C C	missense_variant missense_variant	MODERATE	HG00609.hp2 NA19070.hp1 NA19070.hp2 HG00609.hp2 NA19070.hp1 NA19070.hp2	a0017 a0030 a0031 a0017 a0030 a0031	a0017c0042 a0030c0043 a0031c0044 a0017c0042 a0030c0043 a0031c0044	a0017c0042t0002 a0030c0043t0003 a0031c0044t0001 a0017c0042t0002 a0030c0043t0003 a0031c0044t0001	a0017c0042t0002g0177 a0030c0043t0003g0194 a0031c0044t0001g0098 a0017c0042t0002g0177 a0030c0043t0003g0194 a0031c0044t0001g0098	3	284	0.0106	c.299 others(4): Show c.2990A>G	p.Asn others(6): Show p.Asn997Ser	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	20/40	3333/7624	2990/5808	997/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64616083	C C	G G	missense_variant missense_variant	MODERATE	NA18988.hp1 NA18988.hp1	a0028 a0028	a0028c0032 a0028c0032	a0028c0032t0001 a0028c0032t0001	a0028c0032t0001g0259 a0028c0032t0001g0259	1	284	0.0035	c.290 others(4): Show c.2901G>C	p.Arg others(6): Show p.Arg967Ser	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	20/40	3244/7624	2901/5808	967/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64633727	T T	C C	missense_variant missense_variant	MODERATE	HG00733.hp1 HG00733.hp1	a0018 a0018	a0018c0046 a0018c0046	a0018c0046t0002 a0018c0046t0002	a0018c0046t0002g0252 a0018c0046t0002g0252	1	284	0.0035	c.200 others(4): Show c.2009A>G	p.Asn others(6): Show p.Asn670Ser	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	13/40	2352/7624	2009/5808	670/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64641870	T T	C C	missense_variant missense_variant	MODERATE	HG00741.hp1 HG00741.hp1	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0002 a0019c0027t0002	a0019c0027t0002g0051 a0019c0027t0002g0051	1	284	0.0035	c.183 others(4): Show c.1834A>G	p.Ile others(6): Show p.Ile612Val	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	12/40	2177/7624	1834/5808	612/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64641911	C C	A A	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02809.hp2 HG02970.hp2 HG02055.hp1 HG02809.hp2 HG02970.hp2	a0009 a0009	a0009c0028 a0009c0029 a0009c0047 a0009c0028 a0009c0029 a0009c0047	a0009c0028t0007 a0009c0029t0002 a0009c0047t0001 a0009c0028t0007 a0009c0029t0002 a0009c0047t0001	a0009c0028t0007g0275 a0009c0029t0002g0237 a0009c0047t0001g0274 a0009c0028t0007g0275 a0009c0029t0002g0237 a0009c0047t0001g0274	3	284	0.0106	c.179 others(4): Show c.1793G>T	p.Gly others(6): Show p.Gly598Val	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	12/40	2136/7624	1793/5808	598/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64681255	G G	A A	missense_variant missense_variant	MODERATE	HG02083.hp1 HG02129.hp1 NA19085.hp2 HG02083.hp1 HG02129.hp1 NA19085.hp2	a0010 a0010	a0010c0021 a0010c0049 a0010c0021 a0010c0049	a0010c0021t0002 a0010c0049t0001 a0010c0021t0002 a0010c0049t0001	a0010c0021t0002g0134 a0010c0021t0002g0135 a0010c0049t0001g0136 a0010c0021t0002g0134 a0010c0021t0002g0135 a0010c0049t0001g0136	3	284	0.0106	c.625 others(3): Show c.625C>T	p.Arg others(6): Show p.Arg209Cys	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	3/40	968/7624	625/5808	209/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64681301	T T	A A	missense_variant missense_variant	MODERATE	NA18975.hp1 NA18975.hp1	a0027 a0027	a0027c0050 a0027c0050	a0027c0050t0001 a0027c0050t0001	a0027c0050t0001g0130 a0027c0050t0001g0130	1	284	0.0035	c.579 others(3): Show c.579A>T	p.Glu others(6): Show p.Glu193Asp	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	3/40	922/7624	579/5808	193/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64686798	A A	T T	missense_variant missense_variant	MODERATE	HG00735.hp1 HG00735.hp2 HG00738.hp2 others(38): Show HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01123.hp1 HG01261.hp2 HG01884.hp2 HG01952.hp2 HG01978.hp1 HG02145.hp2 HG02148.hp1 HG02258.hp2 HG02300.hp2 HG02698.hp2 HG02717.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03195.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18942.hp1 NA18942.hp2 NA18956.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18984.hp2 NA18995.hp1 NA19001.hp1 NA19003.hp1 NA19010.hp1 NA19058.hp1 NA19077.hp2 NA19085.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1	a0003 a0004 a0008 others(3): Show a0003 a0004 a0008 a0012 a0016 a0019	a0003c0003 a0003c0017 a0003c0024 others(7): Show a0003c0003 a0003c0017 a0003c0024 a0003c0025 a0004c0005 a0004c0026 a0008c0012 a0012c0016 a0016c0015 a0019c0027	a0003c0003t0001 a0003c0003t0002 a0003c0003t0007 others(12): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0007 a0003c0003t0009 a0003c0017t0006 a0003c0024t0001 a0003c0025t0001 a0004c0005t0001 a0004c0005t0003 a0004c0005t0015 a0004c0026t0001 a0008c0012t0004 a0012c0016t0003 a0016c0015t0002 a0019c0027t0002	a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 others(38): Show a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0033 a0003c0003t0001g0035 a0003c0003t0001g0041 a0003c0003t0001g0052 a0003c0003t0001g0054 a0003c0003t0001g0059 a0003c0003t0002g0024 a0003c0003t0002g0025 a0003c0003t0002g0031 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0060 a0003c0003t0007g0037 a0003c0003t0007g0038 a0003c0003t0009g0043 a0003c0003t0009g0044 a0003c0003t0009g0045 a0003c0017t0006g0027 a0003c0017t0006g0028 a0003c0024t0001g0042 a0003c0025t0001g0026 a0004c0005t0001g0030 a0004c0005t0001g0032 a0004c0005t0001g0036 a0004c0005t0003g0040 a0004c0005t0003g0046 a0004c0005t0003g0047 a0004c0005t0015g0010 a0004c0026t0001g0029 a0008c0012t0004g0034 a0008c0012t0004g0039 a0008c0012t0004g0050 a0012c0016t0003g0048 a0012c0016t0003g0049 a0016c0015t0002g0053 a0016c0015t0002g0055 a0019c0027t0002g0051	41	284	0.1444	c.286 others(3): Show c.286T>A	p.Ser others(5): Show p.Ser96Thr	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	2/40	629/7624	286/5808	96/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64686825	C C	A A	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02622.hp1 HG03486.hp2 others(1): Show HG02572.hp2 HG02622.hp1 HG03486.hp2 HG03540.hp1	a0011 a0024 a0011 a0024	a0011c0022 a0011c0053 a0024c0052 a0011c0022 a0011c0053 a0024c0052	a0011c0022t0001 a0011c0053t0002 a0024c0052t0002 a0011c0022t0001 a0011c0053t0002 a0024c0052t0002	a0011c0022t0001g0270 a0011c0022t0001g0271 a0011c0053t0002g0272 others(1): Show a0011c0022t0001g0270 a0011c0022t0001g0271 a0011c0053t0002g0272 a0024c0052t0002g0269	4	284	0.0141	c.259 others(3): Show c.259G>T	p.Ala others(5): Show p.Ala87Ser	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	2/40	602/7624	259/5808	87/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64686858	T T	C C	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02622.hp1 HG03486.hp2 HG02572.hp2 HG02622.hp1 HG03486.hp2	a0011 a0011	a0011c0022 a0011c0053 a0011c0022 a0011c0053	a0011c0022t0001 a0011c0053t0002 a0011c0022t0001 a0011c0053t0002	a0011c0022t0001g0270 a0011c0022t0001g0271 a0011c0053t0002g0272 a0011c0022t0001g0270 a0011c0022t0001g0271 a0011c0053t0002g0272	3	284	0.0106	c.226 others(3): Show c.226A>G	p.Ile others(5): Show p.Ile76Val	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	2/40	569/7624	226/5808	76/1935	chr3	TogoVar
ADAMTSL1_chr9_18469153_18915950	18504868	C C	G G	missense_variant missense_variant	MODERATE	HG02451.hp2 HG03098.hp2 HG02451.hp2 HG03098.hp2	a0017 a0020 a0017 a0020	a0017c0082 a0020c0081 a0017c0082 a0020c0081	a0017c0082t0004 a0020c0081t0003 a0017c0082t0004 a0020c0081t0003	a0017c0082t0004g0003 a0020c0081t0003g0002 a0017c0082t0004g0003 a0020c0081t0003g0002	2	216	0.0093	c.103 others(3): Show c.103C>G	p.Leu others(5): Show p.Leu35Val	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	2/29	183/7771	103/5289	35/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18504913	G G	A A	missense_variant missense_variant	MODERATE	HG02622.hp1 HG02622.hp1	a0018 a0018	a0018c0028 a0018c0028	a0018c0028t0010 a0018c0028t0010	a0018c0028t0010g0007 a0018c0028t0010g0007	1	216	0.0046	c.148 others(3): Show c.148G>A	p.Gly others(5): Show p.Gly50Arg	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	2/29	228/7771	148/5289	50/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18635973	G G	A A	missense_variant missense_variant	MODERATE	HG02698.hp1 HG02698.hp1	a0019 a0019	a0019c0029 a0019c0029	a0019c0029t0035 a0019c0029t0035	a0019c0029t0035g0142 a0019c0029t0035g0142	1	216	0.0046	c.632 others(3): Show c.632G>A	p.Gly others(6): Show p.Gly211Glu	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	6/29	712/7771	632/5289	211/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18635988	G G	A A	missense_variant missense_variant	MODERATE	NA18955.hp2 NA18955.hp2	a0029 a0029	a0029c0058 a0029c0058	a0029c0058t0001 a0029c0058t0001	a0029c0058t0001g0068 a0029c0058t0001g0068	1	216	0.0046	c.647 others(3): Show c.647G>A	p.Arg others(6): Show p.Arg216His	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	6/29	727/7771	647/5289	216/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18639302	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp1 HG02109.hp2 HG02717.hp1 others(6): Show HG01167.hp1 HG02109.hp2 HG02717.hp1 HG02818.hp1 HG02897.hp1 HG02965.hp2 HG03195.hp1 HG03209.hp1 NA21309.hp1	a0007 a0008 a0007 a0008	a0007c0013 a0007c0059 a0007c0060 others(2): Show a0007c0013 a0007c0059 a0007c0060 a0008c0017 a0008c0030	a0007c0013t0003 a0007c0013t0010 a0007c0013t0019 others(6): Show a0007c0013t0003 a0007c0013t0010 a0007c0013t0019 a0007c0059t0013 a0007c0060t0001 a0008c0017t0002 a0008c0017t0004 a0008c0017t0020 a0008c0030t0003	a0007c0013t0003g0118 a0007c0013t0010g0008 a0007c0013t0019g0158 others(6): Show a0007c0013t0003g0118 a0007c0013t0010g0008 a0007c0013t0019g0158 a0007c0059t0013g0019 a0007c0060t0001g0048 a0008c0017t0002g0043 a0008c0017t0004g0157 a0008c0017t0020g0075 a0008c0030t0003g0012	9	216	0.0417	c.725 others(3): Show c.725G>A	p.Ser others(6): Show p.Ser242Asn	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	7/29	805/7771	725/5289	242/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18706847	G G	A A	missense_variant missense_variant	MODERATE	HG03139.hp1 HG03139.hp1	a0021 a0021	a0021c0031 a0021c0031	a0021c0031t0003 a0021c0031t0003	a0021c0031t0003g0005 a0021c0031t0003g0005	1	216	0.0046	c.167 others(4): Show c.1675G>A	p.Val others(6): Show p.Val559Met	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	14/29	1755/7771	1675/5289	559/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18706988	G G	A A	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03491.hp1	a0023 a0023	a0023c0032 a0023c0032	a0023c0032t0004 a0023c0032t0004	a0023c0032t0004g0105 a0023c0032t0004g0105	1	216	0.0046	c.181 others(4): Show c.1816G>A	p.Asp others(6): Show p.Asp606Asn	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	14/29	1896/7771	1816/5289	606/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18721586	G G	A A	missense_variant missense_variant	MODERATE	HG03195.hp2 HG03195.hp2	a0022 a0022	a0022c0033 a0022c0033	a0022c0033t0024 a0022c0033t0024	a0022c0033t0024g0165 a0022c0033t0024g0165	1	216	0.0046	c.192 others(4): Show c.1927G>A	p.Ala others(6): Show p.Ala643Thr	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	15/29	2007/7771	1927/5289	643/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18721635	A A	G G	missense_variant missense_variant	MODERATE	NA18906.hp1 NA18906.hp1	a0027 a0027	a0027c0044 a0027c0044	a0027c0044t0014 a0027c0044t0014	a0027c0044t0014g0123 a0027c0044t0014g0123	1	216	0.0046	c.197 others(4): Show c.1976A>G	p.Lys others(6): Show p.Lys659Arg	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	15/29	2056/7771	1976/5289	659/1762	chr9	TogoVar

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