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	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MATN2_chr8_97864064_98041724	97980332	ATAGCAGC others(2): Show ATAGCAGCCT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00558.hp2 others(34): Show HG00323.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00735.hp1 HG01106.hp2 HG01433.hp2 HG01496.hp1 HG01952.hp1 HG02040.hp2 HG02293.hp1 HG02698.hp2 HG02735.hp1 HG03017.hp2 HG03688.hp2 HG04199.hp2 NA18612.hp1 NA18941.hp1 NA18945.hp1 NA18949.hp2 NA18963.hp2 NA18964.hp2 NA18972.hp2 NA18983.hp2 NA18989.hp1 NA18994.hp1 NA18998.hp2 NA19010.hp1 NA19012.hp1 NA19054.hp2 NA19060.hp1 NA19066.hp1 NA19074.hp1 NA19083.hp1 NA19085.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0027 a0001c0001 a0001c0027	a0001c0001t0002 a0001c0001t0004 a0001c0027t0002 a0001c0001t0002 a0001c0001t0004 a0001c0027t0002	a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0051 others(34): Show a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0182 a0001c0001t0002g0199 a0001c0001t0002g0228 a0001c0001t0002g0236 a0001c0001t0002g0247 a0001c0001t0002g0259 a0001c0001t0002g0268 a0001c0001t0002g0272 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0296 a0001c0001t0002g0304 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0312 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0027t0002g0004 a0001c0027t0002g0230	37	318	0.1164	-9	c.108 others(28): Show c.1081+1325_1081+1333delTAGCAGCCT		MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18						chr8	TogoVar
MATR3_chr5_139288740_139336677	139311750	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01243.hp1 HG01993.hp1 others(16): Show HG00621.hp2 HG01243.hp1 HG01993.hp1 HG02040.hp1 HG02074.hp2 HG02145.hp2 HG02257.hp2 HG02602.hp2 HG02647.hp2 HG02723.hp1 HG02895.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG06807.hp1 NA18747.hp2 NA18974.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0001t0024	a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0131 others(14): Show a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0244 a0001c0001t0003g0015 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0109 a0001c0001t0007g0014 a0001c0001t0007g0101 a0001c0001t0014g0104 a0001c0001t0024g0156	19	282	0.0674	-9	c.913 others(26): Show c.913-2898_913-2890delTTTTTTTTT		MATR3	ENSG00000015479.20	transcript	ENST00000394805.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
MATR3_chr5_139288740_139336677	139319860	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01993.hp1 HG02738.hp2 others(3): Show HG01884.hp1 HG01993.hp1 HG02738.hp2 HG03453.hp2 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0016 a0001c0001t0001 a0001c0001t0013 a0001c0001t0016	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0161 others(3): Show a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0161 a0001c0001t0013g0029 a0001c0001t0013g0030 a0001c0001t0016g0037	6	282	0.0213	-9	c.160 others(26): Show c.1602+379_1602+387delTTTTTTTTT		MATR3	ENSG00000015479.20	transcript	ENST00000394805.8	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
MAVS_chr20_3841834_3881118	3852002	TTTTTTCC others(2): Show TTTTTTCCCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp1 others(241): Show HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0014 a0017 a0018 a0019 a0022 a0023	a0001c0001 a0001c0003 a0001c0027 others(19): Show a0001c0001 a0001c0003 a0001c0027 a0001c0031 a0002c0002 a0002c0005 a0002c0016 a0003c0004 a0004c0006 a0005c0007 a0006c0008 a0006c0028 a0007c0010 a0009c0011 a0010c0012 a0012c0013 a0014c0033 a0017c0038 a0018c0034 a0019c0032 a0022c0030 a0023c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(116): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0041 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0058 a0001c0001t0059 a0001c0001t0098 a0001c0001t0104 a0001c0001t0108 a0001c0001t0110 a0001c0001t0111 a0001c0001t0113 a0001c0001t0131 a0001c0001t0134 a0001c0001t0143 a0001c0001t0145 a0001c0001t0149 a0001c0003t0008 a0001c0003t0009 a0001c0003t0011 a0001c0003t0012 a0001c0003t0022 a0001c0003t0037 a0001c0003t0054 a0001c0003t0067 a0001c0003t0069 a0001c0027t0144 a0001c0031t0114 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0014 a0002c0002t0015 a0002c0002t0016 a0002c0002t0017 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0036 a0002c0002t0043 a0002c0002t0051 a0002c0002t0052 a0002c0002t0079 a0002c0002t0081 a0002c0002t0084 a0002c0002t0085 a0002c0002t0091 a0002c0002t0093 a0002c0002t0096 a0002c0002t0101 a0002c0002t0102 a0002c0002t0133 a0002c0002t0137 a0002c0002t0138 a0002c0002t0147 a0002c0002t0150 a0002c0002t0151 a0002c0005t0008 a0002c0005t0009 a0002c0005t0011 a0002c0005t0012 a0002c0005t0030 a0002c0005t0063 a0002c0005t0065 a0002c0005t0070 a0002c0005t0072 a0002c0005t0074 a0002c0005t0076 a0002c0005t0077 a0002c0016t0042 a0003c0004t0004 a0003c0004t0006 a0003c0004t0019 a0003c0004t0045 a0003c0004t0060 a0003c0004t0122 a0003c0004t0125 a0003c0004t0126 a0004c0006t0004 a0004c0006t0006 a0004c0006t0121 a0004c0006t0123 a0004c0006t0124 a0005c0007t0007 a0005c0007t0010 a0005c0007t0016 a0006c0008t0028 a0006c0008t0115 a0006c0028t0046 a0007c0010t0028 a0007c0010t0044 a0009c0011t0057 a0009c0011t0109 a0010c0012t0035 a0012c0013t0033 a0014c0033t0007 a0017c0038t0129 a0018c0034t0083 a0019c0032t0118 a0022c0030t0012 a0023c0035t0004	a0001c0001t0001g0058 a0001c0001t0001g0241 a0001c0001t0001g0242 others(234): Show a0001c0001t0001g0058 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0337 a0001c0001t0001g0340 a0001c0001t0002g0266 a0001c0001t0003g0227 a0001c0001t0005g0108 a0001c0001t0005g0254 a0001c0001t0007g0020 a0001c0001t0010g0237 a0001c0001t0010g0249 a0001c0001t0013g0004 a0001c0001t0013g0009 a0001c0001t0013g0021 a0001c0001t0013g0165 a0001c0001t0013g0294 a0001c0001t0013g0295 a0001c0001t0015g0360 a0001c0001t0015g0361 a0001c0001t0016g0243 a0001c0001t0016g0338 a0001c0001t0017g0229 a0001c0001t0020g0256 a0001c0001t0020g0324 a0001c0001t0023g0251 a0001c0001t0023g0252 a0001c0001t0024g0238 a0001c0001t0024g0339 a0001c0001t0025g0228 a0001c0001t0025g0258 a0001c0001t0041g0364 a0001c0001t0041g0365 a0001c0001t0047g0232 a0001c0001t0047g0259 a0001c0001t0049g0334 a0001c0001t0049g0336 a0001c0001t0050g0170 a0001c0001t0050g0333 a0001c0001t0051g0253 a0001c0001t0058g0376 a0001c0001t0059g0388 a0001c0001t0098g0335 a0001c0001t0104g0262 a0001c0001t0108g0350 a0001c0001t0110g0163 a0001c0001t0111g0162 a0001c0001t0113g0168 a0001c0001t0131g0341 a0001c0001t0134g0042 a0001c0001t0143g0369 a0001c0001t0145g0106 a0001c0001t0149g0063 a0001c0003t0008g0257 a0001c0003t0009g0236 a0001c0003t0009g0246 a0001c0003t0011g0135 a0001c0003t0011g0248 a0001c0003t0011g0267 a0001c0003t0012g0051 a0001c0003t0012g0244 a0001c0003t0012g0250 a0001c0003t0012g0255 a0001c0003t0012g0393 a0001c0003t0022g0395 a0001c0003t0037g0164 a0001c0003t0037g0355 a0001c0003t0054g0387 a0001c0003t0067g0363 a0001c0003t0069g0014 a0001c0027t0144g0240 a0001c0031t0114g0319 a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0001g0030 a0002c0002t0001g0039 a0002c0002t0001g0045 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0065 a0002c0002t0001g0068 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0084 a0002c0002t0001g0100 a0002c0002t0001g0120 a0002c0002t0001g0274 a0002c0002t0001g0281 a0002c0002t0001g0331 a0002c0002t0002g0011 a0002c0002t0002g0018 a0002c0002t0002g0071 a0002c0002t0002g0083 a0002c0002t0002g0098 a0002c0002t0002g0111 a0002c0002t0002g0117 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0154 a0002c0002t0002g0235 a0002c0002t0002g0272 a0002c0002t0002g0330 a0002c0002t0002g0347 a0002c0002t0003g0048 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0079 a0002c0002t0003g0082 a0002c0002t0003g0105 a0002c0002t0003g0112 a0002c0002t0003g0113 a0002c0002t0003g0126 a0002c0002t0003g0265 a0002c0002t0003g0277 a0002c0002t0003g0323 a0002c0002t0005g0027 a0002c0002t0005g0046 a0002c0002t0005g0088 a0002c0002t0005g0297 a0002c0002t0007g0026 a0002c0002t0014g0073 a0002c0002t0014g0095 a0002c0002t0014g0110 a0002c0002t0015g0040 a0002c0002t0016g0054 a0002c0002t0017g0001 a0002c0002t0017g0044 a0002c0002t0023g0002 a0002c0002t0023g0092 a0002c0002t0024g0114 a0002c0002t0025g0389 a0002c0002t0026g0234 a0002c0002t0036g0097 a0002c0002t0043g0271 a0002c0002t0051g0056 a0002c0002t0052g0067 a0002c0002t0079g0359 a0002c0002t0081g0169 a0002c0002t0084g0099 a0002c0002t0085g0001 a0002c0002t0091g0007 a0002c0002t0093g0273 a0002c0002t0096g0007 a0002c0002t0101g0278 a0002c0002t0102g0279 a0002c0002t0133g0118 a0002c0002t0137g0057 a0002c0002t0138g0345 a0002c0002t0147g0041 a0002c0002t0150g0276 a0002c0002t0151g0275 a0002c0005t0008g0047 a0002c0005t0008g0055 a0002c0005t0008g0066 a0002c0005t0008g0070 a0002c0005t0008g0080 a0002c0005t0008g0096 a0002c0005t0008g0119 a0002c0005t0009g0078 a0002c0005t0009g0087 a0002c0005t0009g0116 a0002c0005t0009g0121 a0002c0005t0011g0028 a0002c0005t0011g0064 a0002c0005t0011g0346 a0002c0005t0012g0093 a0002c0005t0030g0167 a0002c0005t0063g0090 a0002c0005t0065g0101 a0002c0005t0070g0086 a0002c0005t0072g0069 a0002c0005t0074g0077 a0002c0005t0076g0094 a0002c0005t0077g0072 a0002c0016t0042g0396 a0003c0004t0004g0263 a0003c0004t0004g0264 a0003c0004t0004g0292 a0003c0004t0006g0033 a0003c0004t0006g0293 a0003c0004t0006g0377 a0003c0004t0019g0358 a0003c0004t0019g0379 a0003c0004t0045g0362 a0003c0004t0060g0378 a0003c0004t0122g0022 a0003c0004t0125g0332 a0003c0004t0126g0239 a0004c0006t0004g0032 a0004c0006t0004g0034 a0004c0006t0004g0059 a0004c0006t0004g0076 a0004c0006t0004g0081 a0004c0006t0004g0089 a0004c0006t0004g0102 a0004c0006t0004g0329 a0004c0006t0004g0342 a0004c0006t0004g0343 a0004c0006t0006g0035 a0004c0006t0006g0043 a0004c0006t0006g0091 a0004c0006t0006g0104 a0004c0006t0006g0366 a0004c0006t0121g0103 a0004c0006t0123g0085 a0004c0006t0124g0320 a0005c0007t0007g0006 a0005c0007t0007g0062 a0005c0007t0007g0261 a0005c0007t0010g0006 a0005c0007t0010g0233 a0005c0007t0016g0316 a0006c0008t0028g0166 a0006c0008t0115g0013 a0006c0028t0046g0024 a0007c0010t0028g0397 a0007c0010t0028g0398 a0007c0010t0028g0399 a0007c0010t0044g0153 a0007c0010t0044g0403 a0009c0011t0057g0380 a0009c0011t0109g0392 a0010c0012t0035g0348 a0010c0012t0035g0401 a0010c0012t0035g0402 a0012c0013t0033g0109 a0012c0013t0033g0115 a0014c0033t0007g0296 a0017c0038t0129g0400 a0018c0034t0083g0145 a0019c0032t0118g0280 a0022c0030t0012g0245 a0023c0035t0004g0031	244	420	0.5810	-9	c.-67 others(26): Show c.-67-2555_-67-2547delTTTTTCCCC		MAVS	ENSG00000088888.18	transcript	ENST00000428216.4	protein_coding	1/6						chr20	TogoVar
MAX_chr14_65070127_65107517	65089756	TAAAAAAA others(2): Show TAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01168.hp2 HG01496.hp2 others(17): Show HG00544.hp1 HG01168.hp2 HG01496.hp2 NA18942.hp2 NA18946.hp1 NA18948.hp2 NA18955.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp2 NA18968.hp2 NA18978.hp2 NA18986.hp1 NA18990.hp2 NA19002.hp1 NA19005.hp1 NA19011.hp1 NA19065.hp1 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0050 a0001c0001t0002g0017 a0001c0001t0002g0033 others(6): Show a0001c0001t0001g0050 a0001c0001t0002g0017 a0001c0001t0002g0033 a0001c0001t0002g0043 a0001c0001t0002g0128 a0001c0001t0002g0148 a0001c0001t0004g0042 a0001c0001t0004g0137 a0001c0001t0006g0018	20	382	0.0524	-9	c.171 others(26): Show c.171+3943_171+3951delTTTTTTTTT		MAX	ENSG00000125952.21	transcript	ENST00000358664.9	protein_coding	3/4						chr14	TogoVar
MAZ_chr16_29801529_29816164	29810105	GGCAGCGG others(2): Show GGCAGCGGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02165.hp2 HG02602.hp1 HG02683.hp2 others(2): Show HG02165.hp2 HG02602.hp1 HG02683.hp2 HG03654.hp1 HG03927.hp1	a0002 a0003 a0002 a0003	a0002c0009 a0003c0005 a0002c0009 a0003c0005	a0002c0009t0001 a0003c0005t0001 a0003c0005t0004 others(1): Show a0002c0009t0001 a0003c0005t0001 a0003c0005t0004 a0003c0005t0014	a0002c0009t0001g0014 a0003c0005t0001g0001 a0003c0005t0004g0001 others(1): Show a0002c0009t0001g0014 a0003c0005t0001g0001 a0003c0005t0004g0001 a0003c0005t0014g0001	5	282	0.0177	-9	c.131 others(18): Show c.1311_1319delAGCGGCAGC	p.Ala others(13): Show p.Ala438_Ala440del	MAZ	ENSG00000103495.15	transcript	ENST00000322945.11	protein_coding	5/5	1484/2540	1311/1434	437/477		INFO_REALIGN_3_PRIME	chr16	TogoVar
MB21D2_chr3_192791815_192922856	192828591	CATATATA others(2): Show CATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01099.hp2 HG01192.hp2 others(9): Show HG01070.hp2 HG01099.hp2 HG01192.hp2 HG02258.hp1 HG03490.hp2 HG03492.hp1 HG04199.hp2 NA18948.hp1 NA19043.hp1 NA19043.hp2 NA19086.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0003 a0001c0001t0001 a0001c0001t0006 a0001c0002t0003	a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0035 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0001g0194 a0001c0001t0001g0215 a0001c0001t0001g0239 a0001c0001t0006g0232 a0001c0002t0003g0197	12	298	0.0403	-9	c.212 others(28): Show c.212-28950_212-28942delTATATATAT		MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1						chr3	TogoVar
MB21D2_chr3_192791815_192922856	192908399	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01934.hp1 HG01943.hp1 others(18): Show HG00280.hp1 HG01934.hp1 HG01943.hp1 HG02109.hp2 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp2 HG06807.hp2 NA18949.hp1 NA18950.hp2 NA18968.hp1 NA18973.hp2 NA18995.hp2 NA19240.hp1 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0005c0006t0004	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 others(18): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0002g0100 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0120 a0001c0001t0004g0119 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0137 a0001c0001t0005g0144 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0013g0142 a0005c0006t0004g0145	21	298	0.0705	-9	c.211 others(26): Show c.211+9222_211+9230delAAAAAAAAA		MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1						chr3	TogoVar
MBD3L2_chr19_7044321_7056735	7053915	TTATATAT others(2): Show TTATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02451.hp2 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	2	258	0.0078	-9	c.22 others(20): Show c.2294_*2302delTATATATAA		MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding					2181		chr19	TogoVar
MBD3L2_chr19_7044321_7056735	7054051	ATATAATA others(2): Show ATATAATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00597.hp2 others(75): Show HG00323.hp1 HG00323.hp2 HG00597.hp2 HG00609.hp2 HG00733.hp2 HG01071.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01515.hp1 HG01981.hp1 HG02004.hp2 HG02056.hp1 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03927.hp1 NA18522.hp2 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18979.hp2 NA18983.hp2 NA18998.hp2 NA19002.hp2 NA19056.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009	a0001c0001 a0001c0007 a0002c0002 others(7): Show a0001c0001 a0001c0007 a0002c0002 a0002c0003 a0002c0015 a0003c0006 a0005c0013 a0006c0016 a0007c0010 a0009c0009	a0001c0001t0001 a0001c0001t0004 a0001c0007t0001 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0007t0001 a0002c0002t0001 a0002c0003t0001 a0002c0015t0001 a0003c0006t0001 a0005c0013t0001 a0006c0016t0001 a0007c0010t0001 a0009c0009t0003	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0014 others(21): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0004g0042 a0001c0007t0001g0016 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0015 a0002c0002t0001g0020 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0003t0001g0003 a0002c0003t0001g0038 a0002c0003t0001g0040 a0002c0015t0001g0009 a0003c0006t0001g0009 a0005c0013t0001g0003 a0006c0016t0001g0003 a0007c0010t0001g0002 a0009c0009t0003g0033	78	258	0.3023	-9	c.24 others(20): Show c.2430_*2438delTATAATATG		MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding					2317		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7054051	ATATAATA others(2): Show ATATAATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(88): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00597.hp2 HG00609.hp2 HG00733.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01517.hp1 HG01928.hp1 HG01981.hp1 HG02004.hp2 HG02056.hp2 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03654.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18945.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18976.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp2 NA19076.hp2 NA19088.hp1 NA20805.hp1	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0006 a0008 a0013 a0014	a0002c0002 a0002c0004 a0003c0003 others(5): Show a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0006c0007 a0008c0016 a0013c0010 a0014c0014	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0003c0003t0001 a0004c0005t0001 a0006c0007t0001 a0008c0016t0001 a0013c0010t0001 a0014c0014t0001	a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0011 others(17): Show a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0036 a0002c0002t0001g0046 a0002c0002t0002g0020 a0002c0004t0001g0005 a0002c0004t0001g0017 a0002c0004t0001g0022 a0002c0004t0001g0045 a0003c0003t0001g0002 a0003c0003t0001g0040 a0004c0005t0001g0007 a0004c0005t0001g0038 a0006c0007t0001g0016 a0008c0016t0001g0027 a0013c0010t0001g0025 a0014c0014t0001g0026	91	288	0.3160	-9	c.22 others(20): Show c.2262_*2270delCATATTATA		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					2155		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7054496	ACATATAA others(2): Show ACATATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 NA18944.hp1 NA18980.hp1 HG00140.hp1 NA18944.hp1 NA18980.hp1	a0005 a0005	a0005c0000 a0005c0000	a0005c0000t0000 a0005c0000t0000	a0005c0000t0000g0000 a0005c0000t0000g0000	3	288	0.0104	-9	c.18 others(20): Show c.1817_*1825delATTTATATG		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					1710		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7062155	TATTATAA others(2): Show TATTATAATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(94): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01517.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02040.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02698.hp2 HG02738.hp2 HG03195.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 NA18612.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18952.hp2 NA18960.hp1 NA18963.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19088.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0012 a0015	a0001c0001 a0002c0002 a0009c0011 others(2): Show a0001c0001 a0002c0002 a0009c0011 a0012c0018 a0015c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0009c0011t0001 a0012c0018t0001 a0015c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0035 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0035 a0001c0001t0002g0003 a0001c0001t0003g0009 a0001c0001t0005g0030 a0002c0002t0001g0008 a0002c0002t0003g0023 a0002c0002t0003g0031 a0002c0002t0006g0047 a0009c0011t0001g0024 a0012c0018t0001g0032 a0015c0009t0001g0028	97	288	0.3368	-9	c.-35 others(20): Show c.-3559_-3551delTATTATAAT		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					3480		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035661	ATTACATA others(2): Show ATTACATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG01081.hp2 others(8): Show HG00280.hp2 HG00597.hp2 HG01081.hp2 HG02080.hp2 HG02717.hp2 HG02976.hp2 HG03471.hp2 HG03490.hp2 HG06807.hp2 NA18973.hp2 NA18994.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0014 a0005c0009 a0001c0001 a0001c0014 a0005c0009	a0001c0001t0002 a0001c0014t0002 a0005c0009t0001 a0001c0001t0002 a0001c0014t0002 a0005c0009t0001	a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0014t0002g0023 others(1): Show a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0014t0002g0023 a0005c0009t0001g0021	11	262	0.0420	-9	c.21 others(20): Show c.2191_*2199delATTATGTAA		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding					2087		chr19	TogoVar
MBD5_chr2_148016091_148521971	148079857	AAACAACA others(2): Show AAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG01261.hp1 others(8): Show HG00735.hp2 HG01243.hp1 HG01261.hp1 HG02145.hp2 HG02647.hp2 HG03139.hp2 HG03453.hp1 NA19030.hp2 NA19087.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025 a0001c0005t0001	a0001c0001t0002g0008 a0001c0001t0002g0107 a0001c0001t0002g0108 others(8): Show a0001c0001t0002g0008 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0185 a0001c0001t0003g0111 a0001c0001t0011g0114 a0001c0001t0018g0009 a0001c0001t0020g0109 a0001c0001t0025g0181 a0001c0005t0001g0144	11	188	0.0585	-9	c.-92 others(30): Show c.-925+58212_-925+58220delCAACAACAA		MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148389248	AAACATAT others(2): Show AAACATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00673.hp1 others(10): Show HG00323.hp2 HG00408.hp2 HG00673.hp1 HG02129.hp1 HG02257.hp2 HG02300.hp1 HG03209.hp2 HG03516.hp2 HG03540.hp2 HG04115.hp1 NA18906.hp2 NA18985.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0155 others(10): Show a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0155 a0001c0001t0001g0184 a0001c0001t0002g0042 a0001c0001t0002g0068 a0001c0001t0002g0087 a0001c0001t0002g0093 a0001c0001t0002g0164 a0001c0001t0003g0059 a0001c0001t0004g0083 a0001c0001t0005g0030 a0001c0001t0006g0177	13	188	0.0692	-9	c.-55 others(30): Show c.-557+46914_-557+46922delACATATATA		MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
MBNL2_chr13_97217333_97399120	97287716	CTTTTCTT others(2): Show CTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp1 HG01975.hp1 others(12): Show HG01109.hp2 HG01192.hp1 HG01975.hp1 HG02109.hp2 HG02280.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015	a0001c0001t0001g0027 a0001c0001t0001g0115 a0001c0001t0001g0176 others(12): Show a0001c0001t0001g0027 a0001c0001t0001g0115 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0005g0113 a0001c0001t0005g0238 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0007g0114 a0001c0001t0015g0216	15	254	0.0591	-9	c.174 others(28): Show c.174+11312_174+11320delCTTTTTTTT		MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL3_chrX_132364320_132494038	132408092	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02109.hp1 others(2): Show HG01243.hp1 HG01891.hp2 HG02109.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0153 others(2): Show a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0025g0090	5	191	0.0262	-9	c.178 others(26): Show c.178-1709_178-1701delAAAAAAAAA		MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	2/8						chrX	TogoVar
MBNL3_chrX_132364320_132494038	132492535	TAAGAAGA others(2): Show TAAGAAGAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 NA18942.hp2 HG03688.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0018 a0001c0001t0005 a0001c0001t0018	a0001c0001t0005g0092 a0001c0001t0018g0099 a0001c0001t0005g0092 a0001c0001t0018g0099	2	191	0.0105	-9	c.-43 others(20): Show c.-4397_-4389delCTTCTTCTT		MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding					3498		chrX	TogoVar
MBOAT7_chr19_54168415_54194580	54168950	TCCTTCCT others(2): Show TCCTTCCTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 NA18963.hp1 NA19066.hp1 HG00673.hp2 NA18963.hp1 NA19066.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0002 a0002c0004 a0014c0025 a0001c0002 a0002c0004 a0014c0025	a0001c0002t0001 a0002c0004t0001 a0014c0025t0001 a0001c0002t0001 a0002c0004t0001 a0014c0025t0001	a0001c0002t0001g0065 a0002c0004t0001g0060 a0014c0025t0001g0243 a0001c0002t0001g0065 a0002c0004t0001g0060 a0014c0025t0001g0243	3	373	0.0080	-9	c.50 others(20): Show c.5085_*5093delGAAGGAAGG		MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding					4464		chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54169004	ATATATAT others(2): Show ATATATATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00621.hp2 others(57): Show HG00140.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02109.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02559.hp1 HG02735.hp1 HG03017.hp2 HG03471.hp2 NA18940.hp1 NA18943.hp2 NA18971.hp2 NA18979.hp2 NA18997.hp2 NA18999.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19074.hp1 NA19076.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0016	a0001c0001 a0001c0026 a0002c0003 others(2): Show a0001c0001 a0001c0026 a0002c0003 a0005c0009 a0016c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0026t0003 a0002c0003t0003 a0002c0003t0006 a0005c0009t0003 a0016c0028t0003	a0001c0001t0001g0337 a0001c0001t0002g0088 a0001c0001t0002g0236 others(56): Show a0001c0001t0001g0337 a0001c0001t0002g0088 a0001c0001t0002g0236 a0001c0001t0003g0003 a0001c0001t0003g0074 a0001c0001t0003g0080 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0096 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0152 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0190 a0001c0001t0003g0194 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0207 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0264 a0001c0001t0003g0281 a0001c0001t0003g0304 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0336 a0001c0001t0003g0340 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0350 a0001c0001t0003g0351 a0001c0001t0006g0198 a0001c0001t0006g0202 a0001c0001t0006g0253 a0001c0026t0003g0141 a0002c0003t0003g0120 a0002c0003t0003g0209 a0002c0003t0003g0320 a0002c0003t0006g0266 a0005c0009t0003g0142 a0016c0028t0003g0258	60	373	0.1609	-9	c.50 others(20): Show c.5031_*5039delAAATATATA		MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding					4410		chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54169030	TTTTCTTT others(2): Show TTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01243.hp1 HG01346.hp2 others(13): Show HG00140.hp2 HG01243.hp1 HG01346.hp2 HG01981.hp1 HG02004.hp2 HG02055.hp1 HG02145.hp2 HG02976.hp1 HG03225.hp2 HG03516.hp2 HG03579.hp2 HG03704.hp1 HG04115.hp1 NA18999.hp2 NA19055.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0003 others(1): Show a0001c0001 a0001c0006 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0007 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0006t0001 a0002c0003t0001 a0003c0005t0001	a0001c0001t0001g0016 a0001c0001t0001g0130 a0001c0001t0001g0177 others(13): Show a0001c0001t0001g0016 a0001c0001t0001g0130 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0288 a0001c0001t0001g0299 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0329 a0001c0001t0001g0338 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0007g0277 a0001c0006t0001g0162 a0002c0003t0001g0164 a0003c0005t0001g0212	16	373	0.0429	-9	c.50 others(20): Show c.5005_*5013delGAAAAGAAA		MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding					4384		chr19	TogoVar
MBP_chr18_76973833_77137783	77093981	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02717.hp1 HG02895.hp1 others(3): Show HG02293.hp2 HG02717.hp1 HG02895.hp1 HG03209.hp2 HG03453.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0041	a0001c0001t0002g0330 a0001c0001t0006g0329 a0001c0001t0011g0148 others(3): Show a0001c0001t0002g0330 a0001c0001t0006g0329 a0001c0001t0011g0148 a0001c0001t0011g0206 a0001c0001t0011g0213 a0001c0001t0041g0225	6	396	0.0152	-9	c.51+ others(26): Show c.51+11221_51+11229delAAAAAAAAA		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8						chr18	TogoVar
MBTD1_chr17_51172425_51265049	51179483	TTTATATA others(2): Show TTTATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG01123.hp2 HG03491.hp2 others(2): Show HG00733.hp1 HG01123.hp2 HG03491.hp2 HG03492.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0070 a0001c0001t0006g0072 others(1): Show a0001c0001t0006g0002 a0001c0001t0006g0070 a0001c0001t0006g0072 a0001c0001t0006g0073	5	340	0.0147	-9	c.10 others(20): Show c.1084_*1092delTATATATAA		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17				1084		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51210757	AAACAACA others(2): Show AAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00741.hp2 others(54): Show HG00558.hp1 HG00642.hp1 HG00741.hp2 HG01106.hp1 HG01167.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01516.hp2 HG01517.hp1 HG02055.hp1 HG02109.hp1 HG02148.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG03942.hp2 HG06807.hp2 NA18957.hp1 NA18971.hp2 NA18977.hp1 NA18983.hp2 NA19006.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19070.hp2 NA19089.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(24): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0039 a0001c0001t0044 a0001c0001t0045 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0076 a0001c0001t0077 a0001c0001t0139 a0001c0001t0140 a0001c0001t0143 a0001c0001t0145 a0001c0001t0147 a0001c0001t0148 a0001c0001t0151 a0001c0001t0153 a0002c0006t0024	a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0024 others(54): Show a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0004g0112 a0001c0001t0005g0099 a0001c0001t0011g0095 a0001c0001t0011g0096 a0001c0001t0011g0189 a0001c0001t0011g0190 a0001c0001t0011g0191 a0001c0001t0014g0202 a0001c0001t0014g0209 a0001c0001t0014g0210 a0001c0001t0014g0213 a0001c0001t0023g0180 a0001c0001t0023g0187 a0001c0001t0023g0188 a0001c0001t0024g0133 a0001c0001t0024g0142 a0001c0001t0025g0091 a0001c0001t0025g0097 a0001c0001t0025g0110 a0001c0001t0039g0103 a0001c0001t0039g0104 a0001c0001t0039g0111 a0001c0001t0044g0035 a0001c0001t0044g0040 a0001c0001t0045g0036 a0001c0001t0045g0042 a0001c0001t0057g0033 a0001c0001t0057g0039 a0001c0001t0058g0022 a0001c0001t0058g0023 a0001c0001t0059g0020 a0001c0001t0059g0029 a0001c0001t0061g0092 a0001c0001t0061g0141 a0001c0001t0062g0105 a0001c0001t0076g0027 a0001c0001t0077g0041 a0001c0001t0139g0184 a0001c0001t0140g0183 a0001c0001t0143g0186 a0001c0001t0145g0181 a0001c0001t0147g0185 a0001c0001t0148g0132 a0001c0001t0151g0192 a0001c0001t0153g0057 a0002c0006t0024g0193	57	340	0.1677	-9	c.487 others(26): Show c.487-3761_487-3753delGTTGTTGTT		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	6/16						chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21836801	TCATGTAC others(2): Show TCATGTACAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG03041.hp1 HG03540.hp1 others(1): Show HG01243.hp1 HG03041.hp1 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 others(1): Show a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038	4	308	0.0130	-9	c.-29 others(20): Show c.-2933_-2925delCATGTACAA		MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding					2815		chrX	TogoVar
MC2R_chr18_13877044_13920536	13908707	TGTGTGTG others(2): Show TGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01243.hp1 others(11): Show HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01884.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02647.hp2 HG02886.hp2 HG02976.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0001c0001t0043 a0001c0001t0078 others(3): Show a0001c0001t0008 a0001c0001t0043 a0001c0001t0078 a0002c0002t0008 a0002c0002t0043 a0002c0002t0082	a0001c0001t0008g0021 a0001c0001t0008g0063 a0001c0001t0008g0064 others(8): Show a0001c0001t0008g0021 a0001c0001t0008g0063 a0001c0001t0008g0064 a0001c0001t0008g0065 a0001c0001t0043g0062 a0001c0001t0078g0061 a0002c0002t0008g0011 a0002c0002t0008g0056 a0002c0002t0008g0059 a0002c0002t0043g0057 a0002c0002t0082g0058	14	416	0.0337	-9	c.-12 others(28): Show c.-129+6772_-129+6780delCACACACAC		MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	1/1						chr18	TogoVar
MCAT_chr22_43127209_43148398	43130417	CTTTTTTT others(2): Show CTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00558.hp1 others(74): Show HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG01070.hp1 HG01071.hp2 HG01123.hp2 HG01258.hp1 HG01361.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02155.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02717.hp2 HG02738.hp1 HG02970.hp1 HG03130.hp2 HG03491.hp2 HG03492.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18941.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18992.hp2 NA18998.hp2 NA18999.hp1 NA19009.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp2 NA19081.hp1 NA19084.hp1 NA19088.hp1 NA19091.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0008 a0001c0001 a0002c0002 a0007c0008	a0001c0001t0003 a0001c0001t0006 a0002c0002t0001 others(2): Show a0001c0001t0003 a0001c0001t0006 a0002c0002t0001 a0002c0002t0002 a0007c0008t0003	a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0010 others(24): Show a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0010 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0064 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0092 a0001c0001t0006g0014 a0001c0001t0006g0069 a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0008 a0002c0002t0002g0024 a0002c0002t0002g0040 a0007c0008t0003g0050	77	418	0.1842	-9	c.26 others(20): Show c.2617_*2625delAAAAAAAAA		MCAT	ENSG00000100294.13	transcript	ENST00000290429.11	protein_coding					1791		chr22	TogoVar
MCCC1_chr3_183010218_183104496	183102758	GTTTTTTT others(2): Show GTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01993.hp2 HG02055.hp2 others(17): Show HG00733.hp2 HG01993.hp2 HG02055.hp2 HG02451.hp1 HG02602.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03453.hp1 HG06807.hp2 NA18962.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18995.hp2 NA19062.hp1 NA19064.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 others(16): Show a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0095 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0196 a0001c0003t0001g0001 a0001c0003t0001g0007 a0001c0003t0001g0207 a0001c0003t0001g0209 a0001c0003t0001g0210	20	344	0.0581	-9	c.-33 others(20): Show c.-3327_-3319delAAAAAAAAA		MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding					3263		chr3	TogoVar
MCC_chr5_113017106_113493453	113236133	TGCAGAAT others(2): Show TGCAGAATGA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03209.hp1 HG03453.hp2 others(2): Show HG02818.hp2 HG03209.hp1 HG03453.hp2 NA19030.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0008 a0001c0010 a0003c0014 a0001c0008 a0001c0010 a0003c0014	a0001c0008t0031 a0001c0010t0005 a0001c0010t0028 others(1): Show a0001c0008t0031 a0001c0010t0005 a0001c0010t0028 a0003c0014t0005	a0001c0008t0031g0034 a0001c0010t0005g0033 a0001c0010t0005g0036 others(2): Show a0001c0008t0031g0034 a0001c0010t0005g0033 a0001c0010t0005g0036 a0001c0010t0028g0035 a0003c0014t0005g0026	5	160	0.0313	-9	c.628 others(28): Show c.628-84720_628-84712delTCATTCTGC		MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18						chr5	TogoVar
MCF2L2_chr3_183173041_183433619	183238995	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00735.hp1 others(69): Show HG00558.hp1 HG00609.hp1 HG00735.hp1 HG00738.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01952.hp1 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG04115.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18968.hp1 NA18969.hp1 NA18984.hp2 NA18985.hp2 NA18994.hp1 NA19007.hp1 NA19010.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0020 a0025 a0027 a0030	a0001c0001 a0001c0023 a0002c0002 others(13): Show a0001c0001 a0001c0023 a0002c0002 a0003c0003 a0004c0004 a0006c0008 a0007c0005 a0008c0007 a0009c0010 a0010c0009 a0011c0011 a0012c0013 a0020c0031 a0025c0020 a0027c0024 a0030c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0024 a0001c0023t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0019 a0003c0003t0003 a0003c0003t0022 a0004c0004t0002 a0004c0004t0004 a0004c0004t0005 a0004c0004t0016 a0004c0004t0021 a0006c0008t0001 a0006c0008t0009 a0007c0005t0001 a0008c0007t0001 a0008c0007t0002 a0008c0007t0007 a0009c0010t0013 a0010c0009t0001 a0010c0009t0002 a0011c0011t0001 a0012c0013t0002 a0020c0031t0003 a0025c0020t0005 a0027c0024t0003 a0030c0029t0001	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0021 others(69): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0002g0023 a0001c0001t0002g0054 a0001c0001t0002g0066 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0113 a0001c0001t0002g0161 a0001c0001t0003g0139 a0001c0001t0005g0172 a0001c0001t0012g0068 a0001c0001t0024g0167 a0001c0023t0010g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0056 a0002c0002t0001g0077 a0002c0002t0001g0092 a0002c0002t0001g0138 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0144 a0002c0002t0005g0171 a0002c0002t0006g0051 a0002c0002t0006g0117 a0002c0002t0019g0158 a0003c0003t0003g0049 a0003c0003t0003g0083 a0003c0003t0003g0084 a0003c0003t0022g0157 a0004c0004t0002g0120 a0004c0004t0004g0052 a0004c0004t0005g0168 a0004c0004t0016g0133 a0004c0004t0021g0149 a0006c0008t0001g0042 a0006c0008t0001g0065 a0006c0008t0001g0162 a0006c0008t0009g0175 a0007c0005t0001g0160 a0008c0007t0001g0044 a0008c0007t0001g0069 a0008c0007t0002g0089 a0008c0007t0007g0106 a0008c0007t0007g0107 a0009c0010t0013g0070 a0009c0010t0013g0116 a0010c0009t0001g0128 a0010c0009t0001g0129 a0010c0009t0001g0150 a0010c0009t0002g0130 a0011c0011t0001g0028 a0012c0013t0002g0121 a0020c0031t0003g0074 a0025c0020t0005g0170 a0027c0024t0003g0058 a0030c0029t0001g0115	72	176	0.4091	-9	c.186 others(28): Show c.1863-7987_1863-7979delTTTTTTTTT		MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	15/29						chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183301014	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00735.hp2 HG01109.hp1 others(24): Show HG00438.hp2 HG00735.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01361.hp2 HG02155.hp1 HG02155.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02818.hp1 HG02896.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03471.hp1 HG03831.hp2 NA18522.hp2 NA18941.hp1 NA18952.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp2	a0003 a0004 a0009 others(6): Show a0003 a0004 a0009 a0010 a0011 a0016 a0018 a0024 a0027	a0003c0003 a0004c0004 a0009c0010 others(7): Show a0003c0003 a0004c0004 a0009c0010 a0009c0032 a0010c0009 a0011c0011 a0016c0017 a0018c0025 a0024c0030 a0027c0024	a0003c0003t0022 a0004c0004t0001 a0004c0004t0002 others(16): Show a0003c0003t0022 a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0004c0004t0005 a0004c0004t0012 a0004c0004t0016 a0004c0004t0023 a0009c0010t0002 a0009c0010t0007 a0009c0032t0011 a0010c0009t0001 a0010c0009t0002 a0011c0011t0001 a0011c0011t0002 a0016c0017t0001 a0018c0025t0003 a0024c0030t0004 a0027c0024t0003	a0003c0003t0022g0157 a0004c0004t0001g0060 a0004c0004t0001g0072 others(24): Show a0003c0003t0022g0157 a0004c0004t0001g0060 a0004c0004t0001g0072 a0004c0004t0001g0135 a0004c0004t0002g0013 a0004c0004t0002g0112 a0004c0004t0002g0120 a0004c0004t0004g0052 a0004c0004t0005g0168 a0004c0004t0012g0019 a0004c0004t0016g0133 a0004c0004t0023g0169 a0009c0010t0002g0127 a0009c0010t0007g0159 a0009c0032t0011g0152 a0010c0009t0001g0128 a0010c0009t0001g0129 a0010c0009t0001g0150 a0010c0009t0002g0130 a0011c0011t0001g0028 a0011c0011t0001g0088 a0011c0011t0002g0031 a0016c0017t0001g0153 a0016c0017t0001g0154 a0018c0025t0003g0143 a0024c0030t0004g0165 a0027c0024t0003g0058	27	176	0.1534	-9	c.111 others(26): Show c.1114-827_1114-819delTTTTTTTTT		MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	10/29						chr3	TogoVar
MCF2L_chr13_112964214_113104742	113055385	CACACACA others(2): Show CACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 NA18946.hp2 HG03490.hp1 HG03492.hp1 NA18946.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0020 a0001c0001 a0007c0020	a0001c0001t0001 a0007c0020t0002 a0001c0001t0001 a0007c0020t0002	a0001c0001t0001g0032 a0001c0001t0001g0033 a0007c0020t0002g0111 a0001c0001t0001g0032 a0001c0001t0001g0033 a0007c0020t0002g0111	3	116	0.0259	-9	c.370 others(26): Show c.370-5207_370-5199delACACACACA		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	4/29						chr13	TogoVar
MCF2_chrX_139576770_139713167	139600169	GGGGAAAA others(2): Show GGGGAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	249	0.0040	-9	c.206 others(28): Show c.2065-1680_2065-1672delTTTTTTCCC		MCF2	ENSG00000101977.22	transcript	ENST00000519895.6	protein_coding	20/28						chrX	TogoVar
MCFD2_chr2_46896874_46920806	46915811	GCCCCCCC others(2): Show GCCCCCCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00609.hp2 others(119): Show HG00140.hp1 HG00408.hp1 HG00609.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18943.hp1 NA18950.hp2 NA18962.hp2 NA18967.hp2 NA18969.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19003.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19068.hp1 NA19072.hp2 NA19075.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0003c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0024 others(38): Show a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0070 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0118 a0001c0001t0005g0003 a0001c0001t0005g0008 a0001c0001t0005g0017 a0001c0001t0005g0020 a0001c0001t0005g0064 a0001c0001t0006g0012 a0001c0001t0006g0015 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0008g0029 a0001c0001t0008g0065 a0001c0001t0008g0066 a0001c0001t0008g0067 a0001c0001t0009g0014 a0001c0001t0010g0018 a0001c0001t0012g0028 a0001c0001t0012g0062 a0001c0001t0012g0063 a0001c0001t0013g0021 a0001c0001t0014g0045 a0001c0001t0014g0046 a0001c0001t0014g0047 a0001c0001t0016g0043 a0001c0001t0016g0044 a0001c0001t0024g0103 a0001c0001t0027g0107 a0001c0001t0028g0108 a0001c0001t0029g0074 a0001c0001t0030g0061 a0001c0001t0031g0060 a0001c0001t0034g0116 a0003c0002t0001g0105	122	412	0.2961	-9	c.-10 others(17): Show c.-104_-96delGGGGGGGGG		MCFD2	ENSG00000180398.13	transcript	ENST00000319466.9	protein_coding					6		chr2	TogoVar
MCHR1_chr22_40674484_40687812	40687678	CAAAAAAA others(2): Show CAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00741.hp2 others(57): Show HG00099.hp2 HG00408.hp2 HG00741.hp2 HG01123.hp2 HG01167.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01952.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03654.hp1 HG03710.hp1 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18940.hp1 NA18947.hp1 NA18949.hp1 NA18967.hp2 NA18970.hp2 NA18975.hp2 NA18980.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA19000.hp2 NA19003.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp2 NA19062.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0022	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0001 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0004g0002 a0001c0001t0004g0006 a0001c0002t0001g0004 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0004g0004 a0001c0002t0005g0002 a0001c0002t0005g0003 a0001c0002t0009g0002 a0001c0002t0022g0007	60	406	0.1478	-9	c.57 others(20): Show c.5751_*5759delAAAAAAAAA		MCHR1	ENSG00000128285.5	transcript	ENST00000249016.5	protein_coding					4867		chr22	TogoVar
MCM10_chr10_13156558_13216110	13177508	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(99): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp1 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01175.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02027.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02165.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02615.hp2 HG02735.hp1 HG02735.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03239.hp2 HG03491.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp2 NA18990.hp1 NA18999.hp2 NA19001.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19058.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19087.hp1 NA19090.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0008 others(4): Show a0001 a0006 a0008 a0011 a0012 a0017 a0023	a0001c0001 a0001c0002 a0006c0010 others(5): Show a0001c0001 a0001c0002 a0006c0010 a0008c0016 a0011c0017 a0012c0029 a0017c0021 a0023c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0013 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0002t0004 a0006c0010t0002 a0008c0016t0002 a0011c0017t0004 a0012c0029t0003 a0017c0021t0001 a0023c0033t0004	a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0056 others(93): Show a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0100 a0001c0001t0001g0113 a0001c0001t0001g0143 a0001c0001t0001g0169 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0281 a0001c0001t0001g0295 a0001c0001t0001g0313 a0001c0001t0001g0334 a0001c0001t0001g0337 a0001c0001t0001g0396 a0001c0001t0001g0397 a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0099 a0001c0001t0002g0112 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0186 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0198 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0235 a0001c0001t0002g0249 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0283 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0322 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0386 a0001c0001t0002g0387 a0001c0001t0002g0398 a0001c0001t0003g0040 a0001c0001t0003g0057 a0001c0001t0003g0105 a0001c0001t0003g0111 a0001c0001t0003g0123 a0001c0001t0003g0155 a0001c0001t0003g0159 a0001c0001t0003g0175 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0195 a0001c0001t0003g0323 a0001c0001t0005g0018 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0230 a0001c0001t0005g0231 a0001c0001t0010g0391 a0001c0001t0013g0054 a0001c0001t0013g0342 a0001c0001t0020g0189 a0001c0001t0025g0003 a0001c0001t0026g0049 a0001c0002t0004g0124 a0001c0002t0004g0314 a0006c0010t0002g0019 a0006c0010t0002g0174 a0006c0010t0002g0321 a0008c0016t0002g0192 a0008c0016t0002g0332 a0011c0017t0004g0093 a0011c0017t0004g0248 a0012c0029t0003g0339 a0017c0021t0001g0031 a0023c0033t0004g0058	102	432	0.2361	-9	c.764 others(26): Show c.764+1842_764+1850delTTTTTTTTT		MCM10	ENSG00000065328.17	transcript	ENST00000378714.8	protein_coding	6/19					INFO_REALIGN_3_PRIME	chr10	TogoVar
MCM10_chr10_13156558_13216110	13190783	ATATTGTT others(2): Show ATATTGTTCC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01069.hp1 HG01071.hp1 others(10): Show HG00438.hp1 HG01069.hp1 HG01071.hp1 HG02015.hp2 HG02080.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0101 a0001c0001t0001g0219 a0001c0001t0001g0317 others(8): Show a0001c0001t0001g0101 a0001c0001t0001g0219 a0001c0001t0001g0317 a0001c0001t0002g0068 a0001c0001t0002g0369 a0001c0001t0005g0016 a0001c0001t0005g0021 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0092 a0001c0001t0005g0183	13	432	0.0301	-9	c.141 others(26): Show c.1416-511_1416-503delGTTCCTATT		MCM10	ENSG00000065328.17	transcript	ENST00000378714.8	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr10	TogoVar
MCM3AP_chr21_46230133_46290611	46244395	AGCACTGA others(2): Show AGCACTGAGT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01361.hp2 HG01928.hp1 others(4): Show HG01192.hp1 HG01361.hp2 HG01928.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0248 a0001c0002t0002g0280 others(2): Show a0001c0002t0002g0004 a0001c0002t0002g0248 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0294	7	360	0.0194	-9	c.503 others(26): Show c.5038+403_5038+411delACTCAGTGC		MCM3AP	ENSG00000160294.11	transcript	ENST00000291688.6	protein_coding	23/27						chr21	TogoVar
MCM3AP_chr21_46230133_46290611	46259904	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01074.hp2 others(13): Show HG00735.hp2 HG00741.hp2 HG01074.hp2 HG01109.hp2 HG01257.hp1 HG01433.hp1 HG02698.hp2 HG03490.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp2 NA18957.hp2 NA19065.hp1 NA19070.hp1 NA19086.hp1	a0002 a0013 a0002 a0013	a0002c0003 a0013c0043 a0002c0003 a0013c0043	a0002c0003t0001 a0013c0043t0001 a0002c0003t0001 a0013c0043t0001	a0002c0003t0001g0015 a0002c0003t0001g0179 a0002c0003t0001g0181 others(12): Show a0002c0003t0001g0015 a0002c0003t0001g0179 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0185 a0002c0003t0001g0187 a0002c0003t0001g0190 a0002c0003t0001g0195 a0002c0003t0001g0196 a0002c0003t0001g0197 a0002c0003t0001g0198 a0002c0003t0001g0199 a0002c0003t0001g0227 a0013c0043t0001g0186	16	360	0.0444	-9	c.358 others(26): Show c.3582-822_3582-814delTTTTTTTTT		MCM3AP	ENSG00000160294.11	transcript	ENST00000291688.6	protein_coding	15/27						chr21	TogoVar
MCM6_chr2_135834626_135881443	135873664	ACAGAGGT others(2): Show ACAGAGGTAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00544.hp1 others(119): Show HG00280.hp1 HG00423.hp1 HG00544.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01928.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02559.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18974.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18987.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18998.hp2 NA19000.hp2 NA19003.hp1 NA19007.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19078.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0014 a0001c0015 others(4): Show a0001c0001 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0004c0007 a0009c0005	a0001c0001t0001 a0001c0001t0016 a0001c0001t0020 others(8): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0014t0001 a0001c0015t0001 a0001c0016t0001 a0001c0017t0001 a0004c0007t0001 a0009c0005t0017	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0016g0067 a0001c0001t0020g0057 a0001c0001t0021g0079 a0001c0001t0024g0053 a0001c0014t0001g0087 a0001c0015t0001g0088 a0001c0016t0001g0191 a0001c0017t0001g0192 a0004c0007t0001g0074 a0009c0005t0017g0063	122	394	0.3096	-9	c.108 others(24): Show c.108-830_108-822delGTACCTCTG		MCM6	ENSG00000076003.5	transcript	ENST00000264156.3	protein_coding	1/16						chr2	TogoVar
MCM8_chr20_5945652_6003977	5999397	ATATATAG others(2): Show ATATATAGTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18987.hp1 NA19070.hp1 NA18941.hp2 NA18987.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0041 a0001c0001t0002 a0001c0001t0041	a0001c0001t0002g0024 a0001c0001t0002g0057 a0001c0001t0041g0024 a0001c0001t0002g0024 a0001c0001t0002g0057 a0001c0001t0041g0024	3	366	0.0082	-9	c.50 others(20): Show c.5007_*5015delTATATAGTC		MCM8	ENSG00000125885.13	transcript	ENST00000610722.4	protein_coding					421		chr20	TogoVar
MCM9_chr6_118808455_118940159	118824035	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01884.hp2 HG02572.hp2 others(3): Show HG00597.hp1 HG01884.hp2 HG02572.hp2 HG03139.hp1 HG03486.hp2 HG03579.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0003 a0007c0010 a0001c0001 a0002c0003 a0007c0010	a0001c0001t0007 a0002c0003t0002 a0007c0010t0008 a0001c0001t0007 a0002c0003t0002 a0007c0010t0008	a0001c0001t0007g0104 a0001c0001t0007g0106 a0001c0001t0007g0107 others(3): Show a0001c0001t0007g0104 a0001c0001t0007g0106 a0001c0001t0007g0107 a0002c0003t0002g0067 a0007c0010t0008g0188 a0007c0010t0008g0189	6	348	0.0172	-9	c.196 others(28): Show c.1961+2103_1961+2111delAAAAAAAAA		MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	13/13						chr6	TogoVar
MCM9_chr6_118808455_118940159	118894980	AGCGACCC others(2): Show AGCGACCCCG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02683.hp1 others(3): Show HG01167.hp1 HG01169.hp2 HG02683.hp1 HG03017.hp1 NA18971.hp1 NA18987.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0005 a0005c0007t0005	a0005c0007t0005g0057 a0005c0007t0005g0058 a0005c0007t0005g0059 others(3): Show a0005c0007t0005g0057 a0005c0007t0005g0058 a0005c0007t0005g0059 a0005c0007t0005g0060 a0005c0007t0005g0061 a0005c0007t0005g0062	6	348	0.0172	-9	c.115 others(30): Show c.1150+16661_1150+16669delCGGGGTCGC		MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	8/13						chr6	TogoVar
MCMBP_chr10_119824440_119877843	119836757	GTTTTTTT others(2): Show GTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG01109.hp1 others(15): Show HG00280.hp1 HG00733.hp1 HG01109.hp1 HG01256.hp2 HG01258.hp2 HG01515.hp2 HG01993.hp1 HG02698.hp2 HG02735.hp1 HG02965.hp1 HG03017.hp1 HG03139.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0002t0025 a0001c0001t0002 a0001c0002t0004 a0001c0002t0025	a0001c0001t0002g0113 a0001c0001t0002g0179 a0001c0002t0004g0009 others(14): Show a0001c0001t0002g0113 a0001c0001t0002g0179 a0001c0002t0004g0009 a0001c0002t0004g0028 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0044 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0025g0189	18	400	0.0450	-9	c.154 others(26): Show c.1542+130_1542+138delAAAAAAAAA		MCMBP	ENSG00000197771.13	transcript	ENST00000369077.4	protein_coding	13/15						chr10	TogoVar
MCOLN2_chr1_84920583_85002113	85001906	AGGTTTTT others(2): Show AGGTTTTTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 NA18974.hp1 NA18984.hp1 HG02155.hp1 NA18974.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0006g0184 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0006g0184	3	350	0.0086	-9	c.-50 others(20): Show c.-5043_-5035delATAAAAACC		MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding					4794		chr1	TogoVar
MCPH1_chr8_6401627_6653508	6419181	ACACACAC others(2): Show ACACACACGC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02135.hp1 HG03669.hp1 HG00735.hp2 HG02135.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0005 a0001c0007t0001 a0001c0001t0001 a0001c0001t0005 a0001c0007t0001	a0001c0001t0001g0205 a0001c0001t0005g0008 a0001c0007t0001g0138 a0001c0001t0001g0205 a0001c0001t0005g0008 a0001c0007t0001g0138	3	262	0.0115	-9	c.233 others(26): Show c.233+4299_233+4307delCACACACGC		MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	3/13						chr8	TogoVar
MCPH1_chr8_6401627_6653508	6590429	AGCAGGCC others(2): Show AGCAGGCCCT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00609.hp2 others(128): Show HG00423.hp1 HG00438.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01169.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18950.hp2 NA18956.hp1 NA18956.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18977.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(30): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0024 a0027 a0028 a0029 a0033 a0035 a0036 a0037 a0039 a0043 a0045	a0001c0001 a0001c0007 a0001c0021 others(63): Show a0001c0001 a0001c0007 a0001c0021 a0001c0022 a0001c0033 a0001c0065 a0001c0089 a0002c0002 a0002c0008 a0002c0023 a0002c0030 a0002c0036 a0002c0068 a0003c0003 a0003c0005 a0003c0031 a0003c0066 a0004c0006 a0004c0010 a0005c0004 a0006c0009 a0006c0012 a0006c0027 a0007c0013 a0008c0048 a0008c0053 a0008c0054 a0009c0037 a0009c0070 a0009c0071 a0009c0076 a0009c0094 a0010c0015 a0010c0026 a0011c0011 a0012c0014 a0012c0045 a0012c0047 a0013c0042 a0013c0043 a0014c0024 a0015c0020 a0015c0064 a0016c0029 a0016c0085 a0017c0046 a0017c0051 a0018c0058 a0018c0060 a0019c0075 a0019c0093 a0020c0079 a0021c0032 a0022c0038 a0024c0098 a0027c0028 a0028c0059 a0029c0077 a0029c0078 a0033c0092 a0035c0044 a0036c0088 a0037c0084 a0039c0063 a0043c0039 a0045c0072	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(95): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0024 a0001c0001t0030 a0001c0007t0001 a0001c0007t0004 a0001c0021t0001 a0001c0022t0001 a0001c0033t0004 a0001c0065t0004 a0001c0089t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0011 a0002c0002t0013 a0002c0002t0020 a0002c0002t0035 a0002c0002t0038 a0002c0008t0001 a0002c0008t0005 a0002c0008t0041 a0002c0023t0002 a0002c0030t0001 a0002c0030t0014 a0002c0036t0001 a0002c0068t0002 a0003c0003t0003 a0003c0003t0010 a0003c0005t0006 a0003c0005t0017 a0003c0005t0066 a0003c0005t0069 a0003c0031t0010 a0003c0066t0006 a0004c0006t0002 a0004c0006t0008 a0004c0006t0013 a0004c0006t0062 a0004c0010t0001 a0005c0004t0001 a0005c0004t0002 a0005c0004t0039 a0005c0004t0060 a0006c0009t0002 a0006c0009t0004 a0006c0009t0050 a0006c0012t0061 a0006c0027t0011 a0006c0027t0023 a0007c0013t0026 a0008c0048t0001 a0008c0053t0043 a0008c0054t0005 a0009c0037t0072 a0009c0070t0051 a0009c0071t0029 a0009c0076t0047 a0009c0094t0077 a0010c0015t0006 a0010c0026t0010 a0011c0011t0001 a0011c0011t0002 a0012c0014t0023 a0012c0045t0004 a0012c0047t0004 a0013c0042t0004 a0013c0043t0004 a0014c0024t0007 a0014c0024t0067 a0015c0020t0001 a0015c0064t0004 a0016c0029t0002 a0016c0029t0013 a0016c0085t0005 a0017c0046t0007 a0017c0051t0027 a0018c0058t0071 a0018c0060t0036 a0019c0075t0004 a0019c0093t0004 a0020c0079t0001 a0021c0032t0005 a0021c0032t0024 a0022c0038t0075 a0024c0098t0001 a0027c0028t0022 a0028c0059t0025 a0029c0077t0007 a0029c0078t0017 a0033c0092t0032 a0035c0044t0004 a0036c0088t0004 a0037c0084t0007 a0039c0063t0018 a0043c0039t0002 a0045c0072t0025	a0001c0001t0001g0025 a0001c0001t0001g0074 a0001c0001t0001g0205 others(128): Show a0001c0001t0001g0025 a0001c0001t0001g0074 a0001c0001t0001g0205 a0001c0001t0001g0250 a0001c0001t0001g0262 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0012g0010 a0001c0001t0012g0146 a0001c0001t0012g0193 a0001c0001t0024g0260 a0001c0001t0030g0123 a0001c0007t0001g0129 a0001c0007t0001g0132 a0001c0007t0001g0136 a0001c0007t0004g0135 a0001c0021t0001g0218 a0001c0022t0001g0248 a0001c0033t0004g0036 a0001c0065t0004g0242 a0001c0089t0009g0161 a0002c0002t0001g0067 a0002c0002t0002g0018 a0002c0002t0002g0072 a0002c0002t0005g0077 a0002c0002t0011g0037 a0002c0002t0013g0192 a0002c0002t0020g0017 a0002c0002t0020g0176 a0002c0002t0035g0175 a0002c0002t0038g0173 a0002c0008t0001g0169 a0002c0008t0005g0019 a0002c0008t0005g0023 a0002c0008t0005g0107 a0002c0008t0005g0210 a0002c0008t0041g0206 a0002c0023t0002g0087 a0002c0030t0001g0128 a0002c0030t0014g0131 a0002c0036t0001g0196 a0002c0068t0002g0106 a0003c0003t0003g0006 a0003c0003t0003g0186 a0003c0003t0003g0197 a0003c0003t0010g0013 a0003c0005t0006g0012 a0003c0005t0006g0108 a0003c0005t0006g0170 a0003c0005t0006g0180 a0003c0005t0017g0184 a0003c0005t0066g0177 a0003c0005t0069g0143 a0003c0031t0010g0255 a0003c0066t0006g0249 a0004c0006t0002g0089 a0004c0006t0008g0090 a0004c0006t0013g0110 a0004c0006t0062g0097 a0004c0010t0001g0078 a0004c0010t0001g0096 a0005c0004t0001g0069 a0005c0004t0001g0070 a0005c0004t0001g0117 a0005c0004t0001g0244 a0005c0004t0002g0082 a0005c0004t0039g0245 a0005c0004t0060g0098 a0006c0009t0002g0061 a0006c0009t0002g0063 a0006c0009t0004g0060 a0006c0009t0004g0226 a0006c0009t0050g0054 a0006c0012t0061g0059 a0006c0027t0011g0225 a0006c0027t0023g0227 a0007c0013t0026g0208 a0008c0048t0001g0256 a0008c0053t0043g0240 a0008c0054t0005g0236 a0009c0037t0072g0253 a0009c0070t0051g0238 a0009c0071t0029g0031 a0009c0076t0047g0079 a0009c0094t0077g0254 a0010c0015t0006g0001 a0010c0015t0006g0003 a0010c0026t0010g0050 a0010c0026t0010g0121 a0011c0011t0001g0115 a0011c0011t0001g0247 a0011c0011t0002g0246 a0012c0014t0023g0239 a0012c0045t0004g0219 a0012c0047t0004g0229 a0013c0042t0004g0034 a0013c0043t0004g0033 a0014c0024t0007g0080 a0014c0024t0067g0104 a0015c0020t0001g0258 a0015c0064t0004g0259 a0016c0029t0002g0045 a0016c0029t0013g0046 a0016c0085t0005g0028 a0017c0046t0007g0116 a0017c0051t0027g0237 a0018c0058t0071g0216 a0018c0060t0036g0223 a0019c0075t0004g0112 a0019c0093t0004g0251 a0020c0079t0001g0119 a0021c0032t0005g0144 a0021c0032t0024g0213 a0022c0038t0075g0043 a0024c0098t0001g0042 a0027c0028t0022g0040 a0027c0028t0022g0041 a0028c0059t0025g0224 a0029c0077t0007g0002 a0029c0078t0017g0004 a0033c0092t0032g0122 a0035c0044t0004g0221 a0036c0088t0004g0141 a0037c0084t0007g0062 a0039c0063t0018g0051 a0043c0039t0002g0027 a0045c0072t0025g0230	131	262	0.5000	-9	c.221 others(30): Show c.2215-31014_2215-31006delCAGGCCCTG		MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
MCPH1_chr8_6401627_6653508	6623688	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02451.hp1 HG02486.hp1 others(8): Show HG01358.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG03225.hp2 HG06807.hp2 NA18952.hp1 NA18963.hp1 NA18977.hp2 NA19043.hp2 NA19062.hp2	a0002 a0003 a0006 others(7): Show a0002 a0003 a0006 a0007 a0008 a0012 a0015 a0020 a0039 a0041	a0002c0034 a0003c0003 a0006c0027 others(7): Show a0002c0034 a0003c0003 a0006c0027 a0007c0035 a0008c0049 a0012c0014 a0015c0020 a0020c0080 a0039c0063 a0041c0073	a0002c0034t0073 a0003c0003t0003 a0006c0027t0023 others(7): Show a0002c0034t0073 a0003c0003t0003 a0006c0027t0023 a0007c0035t0003 a0008c0049t0018 a0012c0014t0023 a0015c0020t0018 a0020c0080t0001 a0039c0063t0018 a0041c0073t0003	a0002c0034t0073g0160 a0003c0003t0003g0186 a0006c0027t0023g0227 others(8): Show a0002c0034t0073g0160 a0003c0003t0003g0186 a0006c0027t0023g0227 a0007c0035t0003g0022 a0007c0035t0003g0029 a0008c0049t0018g0220 a0012c0014t0023g0239 a0015c0020t0018g0257 a0020c0080t0001g0120 a0039c0063t0018g0051 a0041c0073t0003g0102	11	262	0.0420	-9	c.245 others(28): Show c.2452+2019_2452+2027delAAAAAAAAA		MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
MCTP1_chr5_94698690_95290094	94796596	CATATATA others(2): Show CATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03927.hp1 HG02055.hp2 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0005 a0001c0002t0001 a0002c0005t0005	a0001c0002t0001g0031 a0002c0005t0005g0060 a0001c0002t0001g0031 a0002c0005t0005g0060	2	98	0.0204	-9	c.255 others(28): Show c.2556+2408_2556+2416delTATATATAT		MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	18/22						chr5	TogoVar

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