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
ALDH9A1_chr1_165657216_165703562	165680604	A A	C C	synonymous_variant synonymous_variant	LOW	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0173 a0001c0013t0001g0173	1	330	0.0030	c.672 others(3): Show c.672T>G	p.Gly others(6): Show p.Gly224Gly	ALDH9A1	ENSG00000143149.13	transcript	ENST00000354775.5	protein_coding	5/11	676/2395	672/1557	224/518	chr1	TogoVar
ALDH9A1_chr1_165657216_165703562	165683036	A A	G G	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(249): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0006 others(8): Show a0001c0001 a0001c0003 a0001c0006 a0001c0013 a0001c0014 a0001c0017 a0002c0005 a0003c0015 a0005c0010 a0006c0019 a0007c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0006t0003 a0001c0006t0005 a0001c0013t0001 a0001c0014t0002 a0001c0017t0001 a0002c0005t0001 a0002c0005t0002 a0002c0005t0010 a0003c0015t0001 a0005c0010t0002 a0006c0019t0002 a0007c0016t0002	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0020 others(188): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0157 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0055 a0001c0001t0002g0065 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0008g0179 a0001c0001t0009g0116 a0001c0003t0001g0009 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0237 a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0241 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0003t0001g0245 a0001c0003t0001g0246 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0249 a0001c0003t0002g0250 a0001c0006t0001g0113 a0001c0006t0001g0162 a0001c0006t0001g0163 a0001c0006t0003g0092 a0001c0006t0003g0129 a0001c0006t0003g0222 a0001c0006t0003g0223 a0001c0006t0003g0224 a0001c0006t0005g0111 a0001c0006t0005g0112 a0001c0013t0001g0173 a0001c0014t0002g0202 a0001c0017t0001g0236 a0002c0005t0001g0006 a0002c0005t0001g0043 a0002c0005t0001g0121 a0002c0005t0001g0124 a0002c0005t0001g0125 a0002c0005t0001g0128 a0002c0005t0002g0122 a0002c0005t0010g0123 a0003c0015t0001g0061 a0005c0010t0002g0094 a0005c0010t0002g0099 a0006c0019t0002g0252 a0007c0016t0002g0194	252	330	0.7636	c.402 others(3): Show c.402T>C	p.Ile others(6): Show p.Ile134Ile	ALDH9A1	ENSG00000143149.13	transcript	ENST00000354775.5	protein_coding	3/11	406/2395	402/1557	134/518	chr1	TogoVar
ALDH9A1_chr1_165657216_165703562	165698544	T T	G G	synonymous_variant synonymous_variant	LOW	HG00323.hp2 HG00639.hp2 HG00673.hp1 others(33): Show HG00323.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01943.hp2 HG02148.hp1 HG02257.hp2 HG02300.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03130.hp2 HG03453.hp1 HG03669.hp1 HG03831.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0017 others(1): Show a0001c0003 a0001c0011 a0001c0017 a0001c0018	a0001c0003t0001 a0001c0003t0002 a0001c0011t0003 others(2): Show a0001c0003t0001 a0001c0003t0002 a0001c0011t0003 a0001c0017t0001 a0001c0018t0001	a0001c0003t0001g0009 a0001c0003t0001g0015 a0001c0003t0001g0016 others(22): Show a0001c0003t0001g0009 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0237 a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0241 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0003t0001g0245 a0001c0003t0001g0246 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0249 a0001c0003t0002g0250 a0001c0011t0003g0040 a0001c0017t0001g0236 a0001c0018t0001g0251	36	330	0.1091	c.15A others(2): Show c.15A>C	p.Ala others(4): Show p.Ala5Ala	ALDH9A1	ENSG00000143149.13	transcript	ENST00000354775.5	protein_coding	1/11	19/2395	15/1557	5/518	chr1	TogoVar
ALDOA_chr16_30060760_30075414	30067586	A A	G G	synonymous_variant synonymous_variant	LOW	HG03195.hp2 HG03453.hp1 NA18906.hp1 HG03195.hp2 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0010 a0001c0003t0001g0001 a0001c0003t0001g0010	3	368	0.0082	c.411 others(3): Show c.411A>G	p.Thr others(6): Show p.Thr137Thr	ALDOA	ENSG00000149925.22	transcript	ENST00000642816.3	protein_coding	4/10	592/1640	411/1257	137/418	chr16	TogoVar
ALDOA_chr16_30060760_30075414	30070137	A A	G G	synonymous_variant synonymous_variant	LOW	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0035 a0001c0007t0001g0035	1	368	0.0027	c.118 others(4): Show c.1182A>G	p.Gln others(6): Show p.Gln394Gln	ALDOA	ENSG00000149925.22	transcript	ENST00000642816.3	protein_coding	10/10	1363/1640	1182/1257	394/418	chr16	TogoVar
ALDOA_chr16_30060760_30075414	30070155	C C	T T	synonymous_variant synonymous_variant	LOW	HG01167.hp1 HG01928.hp1 HG01934.hp2 others(9): Show HG01167.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02257.hp1 NA18951.hp1 NA18975.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	12	368	0.0326	c.120 others(4): Show c.1200C>T	p.Ser others(6): Show p.Ser400Ser	ALDOA	ENSG00000149925.22	transcript	ENST00000642816.3	protein_coding	10/10	1381/1640	1200/1257	400/418	chr16	TogoVar
ALDOB_chr9_101415560_101440774	101424936	A A	G G	synonymous_variant synonymous_variant	LOW	HG02647.hp2 HG02717.hp1 HG02896.hp2 HG02647.hp2 HG02717.hp1 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0051 a0001c0003t0003g0118 a0001c0003t0003g0051 a0001c0003t0003g0118	3	416	0.0072	c.906 others(3): Show c.906T>C	p.Tyr others(6): Show p.Tyr302Tyr	ALDOB	ENSG00000136872.21	transcript	ENST00000647789.2	protein_coding	8/9	982/2420	906/1095	302/364	chr9	TogoVar
ALDOB_chr9_101415560_101440774	101427521	G G	A A	synonymous_variant synonymous_variant	LOW	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0109 a0001c0005t0002g0109	1	416	0.0024	c.501 others(3): Show c.501C>T	p.Asn others(6): Show p.Asn167Asn	ALDOB	ENSG00000136872.21	transcript	ENST00000647789.2	protein_coding	5/9	577/2420	501/1095	167/364	chr9	TogoVar
ALDOC_chr17_28568120_28581895	28573750	G G	A A	synonymous_variant synonymous_variant	LOW	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0018 a0001c0008t0001g0018	1	350	0.0029	c.984 others(3): Show c.984C>T	p.Phe others(6): Show p.Phe328Phe	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	8/9	1091/1608	984/1095	328/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28573843	C C	T T	synonymous_variant synonymous_variant	LOW	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0015 a0001c0007t0001g0015	1	350	0.0029	c.891 others(3): Show c.891G>A	p.Ala others(6): Show p.Ala297Ala	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	8/9	998/1608	891/1095	297/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28574086	A A	T T	synonymous_variant synonymous_variant	LOW	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0014 a0001c0006t0001g0014	1	350	0.0029	c.780 others(3): Show c.780T>A	p.Thr others(6): Show p.Thr260Thr	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	7/9	887/1608	780/1095	260/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28574176	C C	T T	synonymous_variant synonymous_variant	LOW	HG02109.hp2 HG03579.hp2 NA20300.hp1 HG02109.hp2 HG03579.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	3	350	0.0086	c.690 others(3): Show c.690G>A	p.Lys others(6): Show p.Lys230Lys	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	7/9	797/1608	690/1095	230/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28574200	T T	A A	synonymous_variant synonymous_variant	LOW	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0021 a0001c0010t0001g0021	1	350	0.0029	c.666 others(3): Show c.666A>T	p.Val others(6): Show p.Val222Val	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	7/9	773/1608	666/1095	222/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575273	C C	T T	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0010 a0001c0005t0001g0010	1	350	0.0029	c.174 others(3): Show c.174G>A	p.Leu others(5): Show p.Leu58Leu	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	3/9	281/1608	174/1095	58/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575455	C C	T T	synonymous_variant synonymous_variant	LOW	NA18989.hp2 NA18989.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0012 a0005c0004t0002g0012	1	350	0.0029	c.78G others(2): Show c.78G>A	p.Pro others(5): Show p.Pro26Pro	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9	185/1608	78/1095	26/364	chr17	TogoVar
ALG10B_chr12_38311774_38334721	38317017	C C	T T	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00408.hp2 HG00423.hp1 others(105): Show HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG01496.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02523.hp2 HG02572.hp2 HG02683.hp2 HG02976.hp2 HG03209.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG04184.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18975.hp1 NA18975.hp2 NA18976.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp2 NA19080.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA20905.hp1	a0001 a0004 a0008 others(2): Show a0001 a0004 a0008 a0009 a0010	a0001c0002 a0001c0015 a0004c0006 others(3): Show a0001c0002 a0001c0015 a0004c0006 a0008c0011 a0009c0012 a0010c0016	a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 others(18): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0016 a0001c0002t0017 a0001c0002t0023 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0001c0002t0057 a0001c0015t0079 a0004c0006t0002 a0004c0006t0059 a0008c0011t0008 a0008c0011t0058 a0009c0012t0002 a0010c0016t0002	a0001c0002t0002g0003 a0001c0002t0002g0013 a0001c0002t0005g0003 others(22): Show a0001c0002t0002g0003 a0001c0002t0002g0013 a0001c0002t0005g0003 a0001c0002t0008g0003 a0001c0002t0008g0008 a0001c0002t0008g0023 a0001c0002t0010g0003 a0001c0002t0016g0003 a0001c0002t0017g0003 a0001c0002t0023g0003 a0001c0002t0036g0003 a0001c0002t0037g0017 a0001c0002t0038g0013 a0001c0002t0054g0003 a0001c0002t0055g0003 a0001c0002t0056g0003 a0001c0002t0057g0003 a0001c0015t0079g0025 a0004c0006t0002g0003 a0004c0006t0002g0024 a0004c0006t0059g0003 a0008c0011t0008g0008 a0008c0011t0058g0008 a0009c0012t0002g0003 a0010c0016t0002g0003	108	450	0.2400	c.124 others(3): Show c.124C>T	p.Leu others(5): Show p.Leu42Leu	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding	1/3	244/10050	124/1422	42/473	chr12	TogoVar
ALG10B_chr12_38311774_38334721	38321135	T T	C C	synonymous_variant synonymous_variant	LOW	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0013 a0001c0010t0013	a0001c0010t0013g0002 a0001c0010t0013g0002	2	450	0.0044	c.134 others(4): Show c.1344T>C	p.Asn others(6): Show p.Asn448Asn	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding	3/3	1464/10050	1344/1422	448/473	chr12	TogoVar
ALG10B_chr12_38311774_38334721	38321198	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(79): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01891.hp1 HG01934.hp1 HG01993.hp1 HG02055.hp2 HG02132.hp1 HG02257.hp1 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG03017.hp2 HG03041.hp2 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp2 NA18941.hp1 NA18945.hp1 NA18948.hp1 NA18961.hp2 NA18965.hp1 NA18977.hp1 NA18980.hp1 NA18981.hp2 NA18998.hp1 NA18999.hp2 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19054.hp1 NA19058.hp1 NA19066.hp2 NA19068.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0001 a0001c0003t0003 a0001c0003t0015 others(19): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0015 a0001c0003t0021 a0001c0003t0022 a0001c0003t0030 a0001c0003t0031 a0001c0003t0032 a0001c0003t0033 a0001c0003t0035 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046 a0001c0003t0047 a0001c0003t0048 a0001c0003t0049 a0001c0003t0050 a0001c0003t0051 a0001c0003t0052 a0001c0003t0053 a0001c0015t0079	a0001c0003t0001g0001 a0001c0003t0003g0004 a0001c0003t0003g0019 others(20): Show a0001c0003t0001g0001 a0001c0003t0003g0004 a0001c0003t0003g0019 a0001c0003t0015g0004 a0001c0003t0021g0004 a0001c0003t0022g0004 a0001c0003t0030g0004 a0001c0003t0031g0004 a0001c0003t0032g0004 a0001c0003t0033g0004 a0001c0003t0035g0004 a0001c0003t0043g0004 a0001c0003t0044g0004 a0001c0003t0045g0004 a0001c0003t0046g0004 a0001c0003t0047g0004 a0001c0003t0048g0018 a0001c0003t0049g0004 a0001c0003t0050g0004 a0001c0003t0051g0004 a0001c0003t0052g0004 a0001c0003t0053g0004 a0001c0015t0079g0025	82	450	0.1822	c.140 others(4): Show c.1407A>G	p.Gln others(6): Show p.Gln469Gln	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding	3/3	1527/10050	1407/1422	469/473	chr12	TogoVar
ALG10_chr12_34017496_34033302	34024144	A A	G G	synonymous_variant synonymous_variant	LOW	HG01169.hp2 HG02257.hp2 HG02615.hp2 others(10): Show HG01169.hp2 HG02257.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02809.hp2 HG02922.hp1 HG03225.hp1 HG03486.hp1 HG03579.hp2 HG06807.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	13	330	0.0394	c.354 others(3): Show c.354A>G	p.Val others(6): Show p.Val118Val	ALG10	ENSG00000139133.7	transcript	ENST00000266483.7	protein_coding	2/3	458/2913	354/1422	118/473	chr12	TogoVar
ALG10_chr12_34017496_34033302	34025895	A A	C C	synonymous_variant synonymous_variant	LOW	HG00741.hp2 HG02109.hp1 HG02717.hp1 others(2): Show HG00741.hp2 HG02109.hp1 HG02717.hp1 HG02818.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0012 a0001c0004t0001g0012	5	330	0.0152	c.402 others(3): Show c.402A>C	p.Thr others(6): Show p.Thr134Thr	ALG10	ENSG00000139133.7	transcript	ENST00000266483.7	protein_coding	3/3	506/2913	402/1422	134/473	chr12	TogoVar
ALG10_chr12_34017496_34033302	34026222	C C	T T	synonymous_variant synonymous_variant	LOW	HG01175.hp1 HG02615.hp1 HG02622.hp2 others(13): Show HG01175.hp1 HG02615.hp1 HG02622.hp2 HG02809.hp1 HG02896.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03579.hp1 NA18522.hp1 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0010 a0001c0002t0004g0020 a0001c0002t0004g0007 a0001c0002t0004g0010 a0001c0002t0004g0020	16	330	0.0485	c.729 others(3): Show c.729C>T	p.Ser others(6): Show p.Ser243Ser	ALG10	ENSG00000139133.7	transcript	ENST00000266483.7	protein_coding	3/3	833/2913	729/1422	243/473	chr12	TogoVar
ALG11_chr13_52007398_52038600	52024663	G G	A A	synonymous_variant synonymous_variant	LOW	HG00544.hp2 HG01099.hp1 HG03017.hp1 others(6): Show HG00544.hp2 HG01099.hp1 HG03017.hp1 HG03688.hp2 HG06807.hp1 NA18994.hp1 NA19080.hp1 NA19082.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0008 a0001c0002t0005g0032 a0001c0002t0005g0033 a0001c0002t0005g0008 a0001c0002t0005g0032 a0001c0002t0005g0033	9	360	0.0250	c.933 others(3): Show c.933G>A	p.Pro others(6): Show p.Pro311Pro	ALG11	ENSG00000253710.5	transcript	ENST00000521508.2	protein_coding	3/4	954/6510	933/1479	311/492	chr13	TogoVar
ALG11_chr13_52007398_52038600	52024837	T T	C C	synonymous_variant synonymous_variant	LOW	NA18950.hp1 NA19070.hp2 NA19077.hp1 others(1): Show NA18950.hp1 NA19070.hp2 NA19077.hp1 NA19087.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0016 a0001c0004t0001 a0001c0004t0016	a0001c0004t0001g0002 a0001c0004t0001g0006 a0001c0004t0001g0010 others(1): Show a0001c0004t0001g0002 a0001c0004t0001g0006 a0001c0004t0001g0010 a0001c0004t0016g0002	4	360	0.0111	c.110 others(4): Show c.1107T>C	p.Tyr others(6): Show p.Tyr369Tyr	ALG11	ENSG00000253710.5	transcript	ENST00000521508.2	protein_coding	3/4	1128/6510	1107/1479	369/492	chr13	TogoVar
ALG11_chr13_52007398_52038600	52028563	A A	G G	synonymous_variant synonymous_variant	LOW	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0085 a0001c0005t0002g0085	1	360	0.0028	c.145 others(4): Show c.1452A>G	p.Leu others(6): Show p.Leu484Leu	ALG11	ENSG00000253710.5	transcript	ENST00000521508.2	protein_coding	4/4	1473/6510	1452/1479	484/492	chr13	TogoVar
ALG12_chr22_49895229_49923438	49903943	G G	A A	synonymous_variant synonymous_variant	LOW	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0130 a0001c0012t0001g0130	1	346	0.0029	c.136 others(4): Show c.1362C>T	p.Val others(6): Show p.Val454Val	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	10/10	1616/5330	1362/1467	454/488	chr22	TogoVar
ALG12_chr22_49895229_49923438	49904006	G G	A A	synonymous_variant synonymous_variant	LOW	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0028 a0002c0013t0028	a0002c0013t0028g0052 a0002c0013t0028g0052	1	346	0.0029	c.129 others(4): Show c.1299C>T	p.Leu others(6): Show p.Leu433Leu	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	10/10	1553/5330	1299/1467	433/488	chr22	TogoVar
ALG12_chr22_49895229_49923438	49904470	C C	T T	synonymous_variant synonymous_variant	LOW	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0139 a0001c0011t0001g0139	1	346	0.0029	c.102 others(4): Show c.1029G>A	p.Ala others(6): Show p.Ala343Ala	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	8/10	1283/5330	1029/1467	343/488	chr22	TogoVar
ALG12_chr22_49895229_49923438	49907774	G G	A A	synonymous_variant synonymous_variant	LOW	HG01255.hp2 HG02886.hp2 HG03209.hp2 others(6): Show HG01255.hp2 HG02886.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 NA19030.hp1 NA20129.hp1 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0005 a0007c0014 a0001c0005 a0007c0014	a0001c0005t0013 a0001c0005t0019 a0001c0005t0020 others(2): Show a0001c0005t0013 a0001c0005t0019 a0001c0005t0020 a0001c0005t0032 a0007c0014t0013	a0001c0005t0013g0085 a0001c0005t0013g0086 a0001c0005t0013g0087 others(4): Show a0001c0005t0013g0085 a0001c0005t0013g0086 a0001c0005t0013g0087 a0001c0005t0019g0024 a0001c0005t0020g0025 a0001c0005t0032g0088 a0007c0014t0013g0089	9	346	0.0260	c.939 others(3): Show c.939C>T	p.Ile others(6): Show p.Ile313Ile	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	7/10	1193/5330	939/1467	313/488	chr22	TogoVar
ALG12_chr22_49895229_49923438	49907828	T T	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(143): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00642.hp1 HG00741.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp2 NA18960.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp2 NA18974.hp2 NA18980.hp2 NA18982.hp2 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA19001.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19065.hp1 NA19067.hp1 NA19081.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0002 a0001c0004 a0001c0005 others(11): Show a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0015 a0002c0003 a0002c0013 a0003c0006 a0004c0009 a0005c0016 a0006c0018 a0007c0014 a0008c0017	a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 others(47): Show a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0015 a0001c0002t0024 a0001c0002t0025 a0001c0002t0027 a0001c0002t0029 a0001c0002t0031 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0047 a0001c0002t0059 a0001c0002t0060 a0001c0002t0063 a0001c0002t0064 a0001c0002t0065 a0001c0002t0066 a0001c0002t0068 a0001c0004t0009 a0001c0004t0018 a0001c0004t0021 a0001c0004t0030 a0001c0005t0013 a0001c0005t0019 a0001c0005t0020 a0001c0005t0032 a0001c0008t0023 a0001c0010t0061 a0001c0015t0011 a0002c0003t0004 a0002c0003t0014 a0002c0003t0016 a0002c0003t0026 a0002c0003t0036 a0002c0003t0037 a0002c0003t0038 a0002c0003t0040 a0002c0003t0058 a0002c0013t0028 a0003c0006t0006 a0004c0009t0022 a0005c0016t0039 a0006c0018t0062 a0007c0014t0013 a0008c0017t0007	a0001c0002t0003g0010 a0001c0002t0003g0021 a0001c0002t0003g0022 others(99): Show a0001c0002t0003g0010 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0026 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0080 a0001c0002t0003g0090 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0002t0006g0033 a0001c0002t0006g0034 a0001c0002t0006g0111 a0001c0002t0007g0008 a0001c0002t0007g0076 a0001c0002t0007g0078 a0001c0002t0007g0083 a0001c0002t0008g0009 a0001c0002t0008g0065 a0001c0002t0008g0073 a0001c0002t0008g0077 a0001c0002t0008g0084 a0001c0002t0010g0047 a0001c0002t0010g0048 a0001c0002t0010g0183 a0001c0002t0010g0184 a0001c0002t0011g0050 a0001c0002t0011g0180 a0001c0002t0011g0185 a0001c0002t0011g0186 a0001c0002t0015g0023 a0001c0002t0015g0082 a0001c0002t0024g0035 a0001c0002t0025g0030 a0001c0002t0027g0049 a0001c0002t0029g0070 a0001c0002t0031g0074 a0001c0002t0033g0069 a0001c0002t0034g0075 a0001c0002t0035g0081 a0001c0002t0047g0174 a0001c0002t0059g0102 a0001c0002t0060g0103 a0001c0002t0063g0182 a0001c0002t0064g0181 a0001c0002t0065g0099 a0001c0002t0066g0104 a0001c0002t0068g0188 a0001c0004t0009g0016 a0001c0004t0009g0093 a0001c0004t0009g0094 a0001c0004t0009g0095 a0001c0004t0018g0028 a0001c0004t0021g0027 a0001c0004t0030g0096 a0001c0005t0013g0085 a0001c0005t0013g0086 a0001c0005t0013g0087 a0001c0005t0019g0024 a0001c0005t0020g0025 a0001c0005t0032g0088 a0001c0008t0023g0100 a0001c0008t0023g0101 a0001c0010t0061g0178 a0001c0015t0011g0187 a0002c0003t0004g0007 a0002c0003t0004g0013 a0002c0003t0004g0054 a0002c0003t0004g0056 a0002c0003t0004g0058 a0002c0003t0004g0059 a0002c0003t0004g0061 a0002c0003t0004g0062 a0002c0003t0014g0020 a0002c0003t0014g0053 a0002c0003t0014g0060 a0002c0003t0016g0015 a0002c0003t0026g0117 a0002c0003t0026g0166 a0002c0003t0036g0057 a0002c0003t0037g0055 a0002c0003t0038g0051 a0002c0003t0040g0097 a0002c0003t0058g0177 a0002c0013t0028g0052 a0003c0006t0006g0031 a0003c0006t0006g0032 a0003c0006t0006g0105 a0003c0006t0006g0106 a0003c0006t0006g0107 a0003c0006t0006g0110 a0004c0009t0022g0108 a0004c0009t0022g0109 a0005c0016t0039g0098 a0006c0018t0062g0179 a0007c0014t0013g0089 a0008c0017t0007g0079	146	346	0.4220	c.885 others(3): Show c.885A>G	p.Ala others(6): Show p.Ala295Ala	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	7/10	1139/5330	885/1467	295/488	chr22	TogoVar
ALG12_chr22_49895229_49923438	49907903	G G	A A	synonymous_variant synonymous_variant	LOW	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0011 a0001c0015t0011	a0001c0015t0011g0187 a0001c0015t0011g0187	1	346	0.0029	c.810 others(3): Show c.810C>T	p.Arg others(6): Show p.Arg270Arg	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	7/10	1064/5330	810/1467	270/488	chr22	TogoVar
ALG12_chr22_49895229_49923438	49909913	C C	T T	synonymous_variant synonymous_variant	LOW	HG03139.hp2 HG03225.hp2 HG03139.hp2 HG03225.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0023 a0001c0008t0023	a0001c0008t0023g0100 a0001c0008t0023g0101 a0001c0008t0023g0100 a0001c0008t0023g0101	2	346	0.0058	c.645 others(3): Show c.645G>A	p.Pro others(6): Show p.Pro215Pro	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	5/10	899/5330	645/1467	215/488	chr22	TogoVar
ALG12_chr22_49895229_49923438	49913667	C C	T T	synonymous_variant synonymous_variant	LOW	HG01361.hp2 HG01884.hp2 HG01891.hp2 others(8): Show HG01361.hp2 HG01884.hp2 HG01891.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02723.hp2 HG03710.hp1 HG03942.hp2 HG06807.hp1 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0018 a0001c0004t0021 others(1): Show a0001c0004t0009 a0001c0004t0018 a0001c0004t0021 a0001c0004t0030	a0001c0004t0009g0016 a0001c0004t0009g0093 a0001c0004t0009g0094 others(4): Show a0001c0004t0009g0016 a0001c0004t0009g0093 a0001c0004t0009g0094 a0001c0004t0009g0095 a0001c0004t0018g0028 a0001c0004t0021g0027 a0001c0004t0030g0096	11	346	0.0318	c.99G others(2): Show c.99G>A	p.Val others(5): Show p.Val33Val	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	2/10	353/5330	99/1467	33/488	chr22	TogoVar
ALG12_chr22_49895229_49923438	49913718	C C	G G	synonymous_variant synonymous_variant	LOW	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0061 a0001c0010t0061	a0001c0010t0061g0178 a0001c0010t0061g0178	1	346	0.0029	c.48G others(2): Show c.48G>C	p.Leu others(5): Show p.Leu16Leu	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	2/10	302/5330	48/1467	16/488	chr22	TogoVar
ALG13_chrX_111676170_111765649	111685054	C C	T T	synonymous_variant synonymous_variant	LOW	NA19068.hp1 NA19068.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0129 a0007c0015t0001g0129	1	189	0.0053	c.334 others(3): Show c.334C>T	p.Leu others(6): Show p.Leu112Leu	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	3/27	383/4113	334/3414	112/1137	chrX	TogoVar
ALG13_chrX_111676170_111765649	111718176	G G	A A	synonymous_variant synonymous_variant	LOW	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0047 a0002c0008t0001g0047	1	189	0.0053	c.115 others(4): Show c.1152G>A	p.Ala others(6): Show p.Ala384Ala	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	10/27	1201/4113	1152/3414	384/1137	chrX	TogoVar
ALG13_chrX_111676170_111765649	111720110	T T	C C	synonymous_variant synonymous_variant	LOW	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0154 a0001c0006t0001g0154	1	189	0.0053	c.126 others(4): Show c.1266T>C	p.Gly others(6): Show p.Gly422Gly	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	11/27	1315/4113	1266/3414	422/1137	chrX	TogoVar
ALG13_chrX_111676170_111765649	111720137	A A	G G	synonymous_variant synonymous_variant	LOW	HG01891.hp2 HG02055.hp1 HG02109.hp1 others(25): Show HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03486.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0013 a0002c0005 others(2): Show a0001c0002 a0001c0013 a0002c0005 a0002c0008 a0004c0007	a0001c0002t0001 a0001c0013t0001 a0002c0005t0001 others(2): Show a0001c0002t0001 a0001c0013t0001 a0002c0005t0001 a0002c0008t0001 a0004c0007t0001	a0001c0002t0001g0002 a0001c0002t0001g0018 a0001c0002t0001g0019 others(24): Show a0001c0002t0001g0002 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0183 a0001c0013t0001g0042 a0002c0005t0001g0022 a0002c0005t0001g0025 a0002c0005t0001g0074 a0002c0008t0001g0047 a0004c0007t0001g0016 a0004c0007t0001g0017	28	189	0.1481	c.129 others(4): Show c.1293A>G	p.Pro others(6): Show p.Pro431Pro	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	11/27	1342/4113	1293/3414	431/1137	chrX	TogoVar
ALG13_chrX_111676170_111765649	111744771	T T	A A	synonymous_variant synonymous_variant	LOW	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	189	0.0053	c.279 others(4): Show c.2799T>A	p.Pro others(6): Show p.Pro933Pro	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	24/27	2848/4113	2799/3414	933/1137	chrX	TogoVar
ALG13_chrX_111676170_111765649	111757653	A A	G G	synonymous_variant synonymous_variant	LOW	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0042 a0001c0013t0001g0042	1	189	0.0053	c.303 others(4): Show c.3039A>G	p.Val others(7): Show p.Val1013Val	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	26/27	3088/4113	3039/3414	1013/1137	chrX	TogoVar
ALG14_chr1_94969405_95077951	94983118	T T	C C	synonymous_variant synonymous_variant	LOW	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0134 a0001c0005t0134	a0001c0005t0134g0208 a0001c0005t0134g0208	1	386	0.0026	c.609 others(3): Show c.609A>G	p.Lys others(6): Show p.Lys203Lys	ALG14	ENSG00000172339.10	transcript	ENST00000370205.6	protein_coding	4/4	662/9375	609/651	203/216	chr1	TogoVar
ALG14_chr1_94969405_95077951	95027258	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0222 a0001c0003t0020g0222	1	386	0.0026	c.291 others(3): Show c.291T>C	p.Tyr others(5): Show p.Tyr97Tyr	ALG14	ENSG00000172339.10	transcript	ENST00000370205.6	protein_coding	3/4	344/9375	291/651	97/216	chr1	TogoVar
ALG14_chr1_94969405_95077951	95064983	C C	T T	synonymous_variant synonymous_variant	LOW	HG02074.hp1 NA18945.hp2 NA19000.hp1 others(1): Show HG02074.hp1 NA18945.hp2 NA19000.hp1 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0103 a0001c0002t0115 a0001c0002t0121 others(1): Show a0001c0002t0103 a0001c0002t0115 a0001c0002t0121 a0001c0002t0122	a0001c0002t0103g0180 a0001c0002t0115g0183 a0001c0002t0121g0182 others(1): Show a0001c0002t0103g0180 a0001c0002t0115g0183 a0001c0002t0121g0182 a0001c0002t0122g0184	4	386	0.0104	c.171 others(3): Show c.171G>A	p.Gly others(5): Show p.Gly57Gly	ALG14	ENSG00000172339.10	transcript	ENST00000370205.6	protein_coding	2/4	224/9375	171/651	57/216	chr1	TogoVar
ALG1L2_chr3_130076831_130103390	130091276	C C	T T	synonymous_variant synonymous_variant	LOW	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0079 a0001c0018t0001g0079	1	260	0.0038	c.36C others(2): Show c.36C>T	p.Tyr others(5): Show p.Tyr12Tyr	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	2/8	222/969	36/648	12/215	chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130091285	G G	A A	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00741.hp2 HG01069.hp2 HG01106.hp2 HG01175.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01943.hp2 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02602.hp2 HG02615.hp1 HG02735.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03669.hp2 HG03704.hp2 HG06807.hp1 NA19043.hp2 NA19240.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0001c0008 a0002c0002 others(2): Show a0001c0006 a0001c0008 a0002c0002 a0002c0007 a0002c0012	a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 others(4): Show a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0002c0002t0001 a0002c0007t0001 a0002c0012t0001	a0001c0006t0001g0066 a0001c0006t0002g0018 a0001c0006t0002g0064 others(19): Show a0001c0006t0001g0066 a0001c0006t0002g0018 a0001c0006t0002g0064 a0001c0008t0001g0069 a0001c0008t0002g0067 a0002c0002t0001g0004 a0002c0002t0001g0019 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0007t0001g0072 a0002c0007t0001g0073 a0002c0012t0001g0062	39	260	0.1500	c.45G others(2): Show c.45G>A	p.Pro others(5): Show p.Pro15Pro	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	2/8	231/969	45/648	15/215	chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130091315	C C	T T	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(36): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00741.hp2 HG01069.hp2 HG01106.hp2 HG01175.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01943.hp2 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02602.hp2 HG02615.hp1 HG02735.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03669.hp2 HG03704.hp2 HG06807.hp1 NA19043.hp2 NA19240.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0001c0008 a0002c0002 others(2): Show a0001c0006 a0001c0008 a0002c0002 a0002c0007 a0002c0012	a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 others(4): Show a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0002c0002t0001 a0002c0007t0001 a0002c0012t0001	a0001c0006t0001g0066 a0001c0006t0002g0018 a0001c0006t0002g0064 others(19): Show a0001c0006t0001g0066 a0001c0006t0002g0018 a0001c0006t0002g0064 a0001c0008t0001g0069 a0001c0008t0002g0067 a0002c0002t0001g0004 a0002c0002t0001g0019 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0007t0001g0072 a0002c0007t0001g0073 a0002c0012t0001g0062	39	260	0.1500	c.75C others(2): Show c.75C>T	p.Asp others(5): Show p.Asp25Asp	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	2/8	261/969	75/648	25/215	chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130091327	G G	A A	synonymous_variant synonymous_variant	LOW	HG01069.hp1 HG01109.hp2 HG02486.hp1 others(11): Show HG01069.hp1 HG01109.hp2 HG02486.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03471.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0012 a0001c0003t0001g0029 others(5): Show a0001c0003t0001g0008 a0001c0003t0001g0012 a0001c0003t0001g0029 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142	14	260	0.0538	c.87G others(2): Show c.87G>A	p.Arg others(5): Show p.Arg29Arg	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	2/8	273/969	87/648	29/215	chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130091339	G G	A A	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG03139.hp1 HG02896.hp1 HG03139.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0072 a0002c0007t0001g0073 a0002c0007t0001g0072 a0002c0007t0001g0073	2	260	0.0077	c.99G others(2): Show c.99G>A	p.Lys others(5): Show p.Lys33Lys	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	2/8	285/969	99/648	33/215	chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130091351	G G	C C	synonymous_variant synonymous_variant	LOW	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0002 a0001c0014t0001g0002	1	260	0.0038	c.111 others(3): Show c.111G>C	p.Thr others(5): Show p.Thr37Thr	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	2/8	297/969	111/648	37/215	chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130093123	C C	T T	synonymous_variant synonymous_variant	LOW	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0062 a0002c0012t0001g0062	1	260	0.0038	c.276 others(3): Show c.276C>T	p.Asp others(5): Show p.Asp92Asp	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	4/8	462/969	276/648	92/215	chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130094458	G G	A A	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(44): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00741.hp2 HG01069.hp2 HG01106.hp2 HG01175.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01943.hp2 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03704.hp2 HG06807.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0006 a0002c0002 a0002c0007 others(5): Show a0001c0006 a0002c0002 a0002c0007 a0002c0012 a0002c0015 a0003c0005 a0003c0011 a0004c0009	a0001c0006t0001 a0001c0006t0002 a0002c0002t0001 others(7): Show a0001c0006t0001 a0001c0006t0002 a0002c0002t0001 a0002c0007t0001 a0002c0012t0001 a0002c0015t0001 a0003c0005t0001 a0003c0011t0001 a0004c0009t0001 a0004c0009t0005	a0001c0006t0001g0066 a0001c0006t0002g0018 a0001c0006t0002g0064 others(26): Show a0001c0006t0001g0066 a0001c0006t0002g0018 a0001c0006t0002g0064 a0002c0002t0001g0004 a0002c0002t0001g0019 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0007t0001g0072 a0002c0007t0001g0073 a0002c0012t0001g0062 a0002c0015t0001g0087 a0003c0005t0001g0013 a0003c0005t0001g0035 a0003c0005t0001g0036 a0003c0005t0001g0037 a0003c0011t0001g0032 a0003c0011t0001g0034 a0004c0009t0001g0135 a0004c0009t0005g0040	47	260	0.1808	c.369 others(3): Show c.369G>A	p.Gln others(6): Show p.Gln123Gln	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	5/8	555/969	369/648	123/215	chr3	TogoVar

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