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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MARK4_chr19_45246271_45310284	45281367	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp2 HG00735.hp2 others(87): Show HG00323.hp2 HG00609.hp2 HG00735.hp2 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02257.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03831.hp1 HG03942.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18942.hp1 NA18950.hp1 NA18962.hp1 NA18963.hp2 NA18983.hp2 NA18994.hp1 NA19000.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19068.hp2 NA19074.hp1 NA19085.hp1 NA19087.hp1 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0012 a0007c0008 a0001c0001 a0001c0012 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0012t0010 a0007c0008t0005	a0001c0001t0001g0028 a0001c0001t0001g0069 a0001c0001t0001g0070 others(87): Show a0001c0001t0001g0028 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0221 a0001c0001t0002g0001 a0001c0001t0002g0176 a0001c0001t0002g0198 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0259 a0001c0001t0004g0001 a0001c0001t0004g0178 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0224 a0001c0001t0005g0029 a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0048 a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0061 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0071 a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0008 a0001c0001t0006g0010 a0001c0001t0006g0011 a0001c0001t0006g0082 a0001c0001t0006g0167 a0001c0001t0006g0168 a0001c0001t0006g0170 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0187 a0001c0001t0006g0188 a0001c0001t0006g0227 a0001c0001t0007g0031 a0001c0001t0007g0032 a0001c0001t0007g0035 a0001c0001t0007g0036 a0001c0001t0007g0039 a0001c0001t0007g0041 a0001c0001t0007g0042 a0001c0001t0007g0050 a0001c0001t0007g0064 a0001c0001t0007g0074 a0001c0001t0007g0135 a0001c0001t0008g0068 a0001c0001t0010g0030 a0001c0001t0010g0049 a0001c0001t0010g0169 a0001c0001t0010g0171 a0001c0001t0010g0172 a0001c0001t0010g0197 a0001c0001t0011g0002 a0001c0001t0011g0033 a0001c0001t0011g0047 a0001c0001t0011g0051 a0001c0001t0011g0052 a0001c0001t0011g0053 a0001c0001t0015g0037 a0001c0001t0018g0024 a0001c0001t0018g0025 a0001c0001t0019g0175 a0001c0001t0020g0191 a0001c0001t0020g0192 a0001c0001t0026g0190 a0001c0001t0031g0026 a0001c0001t0032g0005 a0001c0001t0034g0012 a0001c0012t0010g0166 a0007c0008t0005g0062	90	260	0.3462	7	c.127 others(24): Show c.1276+638_1276+644dupTTTTTTT	MARK4	ENSG00000007047.16	transcript	ENST00000262891.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
MARK4_chr19_45246271_45310284	45300344	G G	GAAAAAAA GAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01169.hp1 HG01433.hp1 others(8): Show HG00738.hp1 HG01169.hp1 HG01433.hp1 HG01517.hp1 HG02257.hp1 HG02735.hp1 HG02818.hp1 HG02976.hp2 HG03486.hp1 HG03942.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010	a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0004g0214 others(8): Show a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0004g0214 a0001c0001t0005g0059 a0001c0001t0005g0061 a0001c0001t0005g0073 a0001c0001t0006g0168 a0001c0001t0006g0188 a0001c0001t0006g0227 a0001c0001t0010g0030 a0001c0001t0010g0172	11	260	0.0423	7	c.192 others(24): Show c.1922+509_1922+515dupAAAAAAA	MARK4	ENSG00000007047.16	transcript	ENST00000262891.9	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
MARK4_chr19_45246271_45310284	45301557	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03654.hp1 HG03942.hp2 others(3): Show HG02572.hp1 HG03654.hp1 HG03942.hp2 NA19000.hp1 NA19054.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0040 a0001c0001t0005g0044 a0001c0001t0005g0058 others(3): Show a0001c0001t0005g0040 a0001c0001t0005g0044 a0001c0001t0005g0058 a0001c0001t0007g0031 a0001c0001t0007g0039 a0001c0001t0007g0107	6	260	0.0231	7	c.192 others(24): Show c.1923-801_1923-795dupAAAAAAA	MARK4	ENSG00000007047.16	transcript	ENST00000262891.9	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
MARS1_chr12_57483068_57521652	57493710	T T	TATTATAA TATTATAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02071.hp2 NA18950.hp2 others(2): Show HG00408.hp2 HG02071.hp2 NA18950.hp2 NA18980.hp1 NA19003.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0166 a0001c0004t0001g0168 a0001c0004t0001g0169 others(2): Show a0001c0004t0001g0166 a0001c0004t0001g0168 a0001c0004t0001g0169 a0001c0004t0001g0170 a0001c0004t0001g0171	5	288	0.0174	7	c.770 others(24): Show c.770+3066_770+3067insATTATAA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20			chr12	TogoVar
MARS1_chr12_57483068_57521652	57508699	A A	AGGTAGAG AGGTAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02071.hp2 NA18950.hp2 others(3): Show HG00408.hp2 HG02071.hp2 NA18950.hp2 NA18957.hp1 NA18980.hp1 NA19003.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0166 a0001c0004t0001g0168 a0001c0004t0001g0169 others(3): Show a0001c0004t0001g0166 a0001c0004t0001g0168 a0001c0004t0001g0169 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0172	6	288	0.0208	7	c.136 others(26): Show c.1369-2982_1369-2976dupTAGAGGG	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MARVELD1_chr10_97708730_97723150	97708744	C C	CTTTTTTT CTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01081.hp2 others(12): Show HG00140.hp1 HG00280.hp2 HG01081.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01361.hp2 HG01884.hp2 HG01981.hp1 HG02074.hp2 HG06807.hp2 NA19003.hp1 NA19005.hp2 NA19065.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0002 a0001c0003t0001g0001 a0001c0002t0001g0002 a0001c0003t0001g0001	15	428	0.0351	7	c.-51 others(18): Show c.-5133_-5132insTTTTTTT	MARVELD1	ENSG00000155254.13	transcript	ENST00000285605.8	protein_coding		4985		chr10	TogoVar
MASP2_chr1_11021523_11052239	11031528	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(161): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18981.hp2 NA18987.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19055.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0006 a0009 a0012 a0013 a0015 a0016 a0018 a0019 a0020	a0001c0001 a0001c0009 a0001c0010 others(15): Show a0001c0001 a0001c0009 a0001c0010 a0001c0012 a0002c0006 a0003c0003 a0003c0005 a0003c0011 a0003c0013 a0006c0014 a0009c0020 a0012c0021 a0013c0035 a0015c0037 a0016c0022 a0018c0024 a0019c0029 a0020c0028	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0009t0001 a0001c0010t0001 a0001c0012t0001 a0002c0006t0002 a0003c0003t0001 a0003c0005t0001 a0003c0011t0001 a0003c0013t0002 a0006c0014t0001 a0009c0020t0001 a0012c0021t0001 a0013c0035t0001 a0015c0037t0001 a0016c0022t0001 a0018c0024t0001 a0019c0029t0001 a0020c0028t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 others(154): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0062 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0006g0189 a0001c0001t0007g0175 a0001c0009t0001g0250 a0001c0009t0001g0276 a0001c0009t0001g0283 a0001c0009t0001g0287 a0001c0009t0001g0300 a0001c0010t0001g0223 a0001c0010t0001g0226 a0001c0010t0001g0228 a0001c0012t0001g0003 a0001c0012t0001g0012 a0001c0012t0001g0013 a0001c0012t0001g0014 a0002c0006t0002g0270 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0282 a0003c0003t0001g0284 a0003c0003t0001g0286 a0003c0003t0001g0288 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0294 a0003c0003t0001g0295 a0003c0003t0001g0297 a0003c0003t0001g0303 a0003c0003t0001g0304 a0003c0003t0001g0306 a0003c0005t0001g0088 a0003c0005t0001g0145 a0003c0005t0001g0147 a0003c0005t0001g0161 a0003c0005t0001g0165 a0003c0005t0001g0171 a0003c0005t0001g0214 a0003c0011t0001g0307 a0003c0011t0001g0308 a0003c0011t0001g0311 a0003c0013t0002g0019 a0006c0014t0001g0153 a0006c0014t0001g0173 a0006c0014t0001g0218 a0009c0020t0001g0323 a0009c0020t0001g0324 a0012c0021t0001g0325 a0012c0021t0001g0326 a0013c0035t0001g0314 a0015c0037t0001g0330 a0016c0022t0001g0020 a0018c0024t0001g0091 a0019c0029t0001g0097 a0020c0028t0001g0104	164	346	0.4740	7	c.108 others(24): Show c.1088-653_1088-647dupTTTTTTT	MASP2	ENSG00000009724.18	transcript	ENST00000400897.8	protein_coding	8/10			chr1	TogoVar
MAST1_chr19_12833515_12879952	12845411	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01168.hp2 HG02258.hp1 others(20): Show HG01123.hp1 HG01168.hp2 HG02258.hp1 HG02280.hp1 HG02622.hp1 HG02717.hp2 HG02895.hp1 HG02922.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03942.hp2 NA18950.hp1 NA18984.hp2 NA18986.hp1 NA19070.hp2 NA20129.hp2 NA20300.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0009 a0008c0012	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001 a0001c0009t0001 a0008c0012t0001	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 others(20): Show a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0300 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0005t0001g0025 a0001c0005t0001g0030 a0001c0007t0001g0189 a0001c0009t0001g0031 a0008c0012t0001g0307	23	316	0.0728	7	c.327 others(24): Show c.327+1821_327+1827dupAAAAAAA	MAST1	ENSG00000105613.10	transcript	ENST00000251472.9	protein_coding	4/25		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST2_chr1_45798612_46041122	45939980	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(66): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01952.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02155.hp2 HG02300.hp2 HG02735.hp1 HG02818.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04204.hp1 NA18944.hp1 NA18947.hp1 NA18950.hp1 NA18959.hp2 NA18960.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp2 NA19000.hp1 NA19001.hp2 NA19007.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19077.hp2 NA19083.hp1 NA19084.hp1 NA19091.hp2 NA21309.hp1	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0008 a0009 a0013 a0026	a0001c0001 a0001c0027 a0002c0007 others(6): Show a0001c0001 a0001c0027 a0002c0007 a0002c0020 a0007c0008 a0008c0010 a0009c0012 a0013c0023 a0026c0024	a0001c0001t0001 a0001c0027t0001 a0002c0007t0001 others(6): Show a0001c0001t0001 a0001c0027t0001 a0002c0007t0001 a0002c0020t0001 a0007c0008t0001 a0008c0010t0001 a0009c0012t0001 a0013c0023t0001 a0026c0024t0001	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 others(66): Show a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0027t0001g0170 a0002c0007t0001g0120 a0002c0020t0001g0018 a0007c0008t0001g0154 a0007c0008t0001g0195 a0007c0008t0001g0196 a0007c0008t0001g0197 a0007c0008t0001g0207 a0008c0010t0001g0016 a0008c0010t0001g0167 a0008c0010t0001g0168 a0008c0010t0001g0174 a0009c0012t0001g0226 a0009c0012t0001g0238 a0009c0012t0001g0241 a0013c0023t0001g0138 a0026c0024t0001g0240	69	288	0.2396	7	c.501 others(26): Show c.501-19391_501-19385dupTTTTTTT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45970667	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG00738.hp2 others(32): Show HG00408.hp2 HG00642.hp1 HG00738.hp2 HG01074.hp2 HG01168.hp2 HG01192.hp2 HG01346.hp1 HG01433.hp2 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp2 HG02129.hp1 HG02300.hp1 HG02451.hp2 HG02717.hp1 HG02723.hp2 HG02897.hp2 HG03471.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG06807.hp2 NA18522.hp1 NA18962.hp1 NA18975.hp2 NA18979.hp2 NA18981.hp1 NA18988.hp1 NA19001.hp1 NA19009.hp2 NA19083.hp2	a0002 a0003 a0011 others(3): Show a0002 a0003 a0011 a0015 a0023 a0027	a0002c0002 a0003c0003 a0003c0017 others(5): Show a0002c0002 a0003c0003 a0003c0017 a0003c0018 a0011c0019 a0015c0033 a0023c0029 a0027c0022	a0002c0002t0001 a0003c0003t0001 a0003c0017t0001 others(5): Show a0002c0002t0001 a0003c0003t0001 a0003c0017t0001 a0003c0018t0001 a0011c0019t0001 a0015c0033t0001 a0023c0029t0001 a0027c0022t0001	a0002c0002t0001g0017 a0002c0002t0001g0025 a0002c0002t0001g0026 others(32): Show a0002c0002t0001g0017 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0030 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0044 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0058 a0002c0002t0001g0062 a0002c0002t0001g0065 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0081 a0002c0002t0001g0089 a0002c0002t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0100 a0003c0003t0001g0109 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0017t0001g0107 a0003c0018t0001g0103 a0003c0018t0001g0106 a0011c0019t0001g0111 a0011c0019t0001g0142 a0015c0033t0001g0088 a0023c0029t0001g0087 a0027c0022t0001g0105	35	288	0.1215	7	c.592 others(26): Show c.592+11206_592+11212dupAAAAAAA	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45994274	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(27): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00609.hp1 HG00642.hp2 HG00738.hp1 HG01169.hp2 HG02056.hp2 HG02129.hp2 HG02258.hp2 HG02523.hp1 HG02683.hp2 HG03453.hp2 HG03486.hp1 HG03704.hp1 HG03834.hp1 NA18906.hp2 NA18944.hp1 NA18952.hp1 NA18968.hp1 NA18975.hp1 NA19002.hp1 NA19011.hp2 NA19030.hp1 NA19062.hp2 NA19065.hp2 NA19079.hp2 NA19090.hp2 NA19091.hp2 NA21309.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0012	a0001c0001 a0001c0027 a0002c0009 others(2): Show a0001c0001 a0001c0027 a0002c0009 a0008c0010 a0012c0016	a0001c0001t0001 a0001c0027t0001 a0002c0009t0001 others(3): Show a0001c0001t0001 a0001c0027t0001 a0002c0009t0001 a0008c0010t0001 a0012c0016t0001 a0012c0016t0003	a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0150 others(27): Show a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0027t0001g0170 a0002c0009t0001g0004 a0008c0010t0001g0016 a0008c0010t0001g0168 a0008c0010t0001g0174 a0012c0016t0001g0177 a0012c0016t0003g0155	30	288	0.1042	7	c.593 others(24): Show c.593-3431_593-3425dupTTTTTTT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST3_chr19_18092778_18156687	18111530	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG02486.hp1 others(12): Show HG01081.hp1 HG01884.hp2 HG02486.hp1 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03139.hp1 HG03516.hp2 HG03579.hp2 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0007 a0001c0002 a0001c0006 a0001c0007	a0001c0002t0004 a0001c0002t0018 a0001c0006t0009 others(1): Show a0001c0002t0004 a0001c0002t0018 a0001c0006t0009 a0001c0007t0011	a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0152 others(12): Show a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0152 a0001c0002t0004g0238 a0001c0002t0004g0239 a0001c0002t0004g0241 a0001c0002t0004g0242 a0001c0002t0004g0243 a0001c0002t0004g0244 a0001c0002t0004g0254 a0001c0002t0004g0255 a0001c0002t0004g0257 a0001c0002t0018g0240 a0001c0006t0009g0292 a0001c0007t0011g0283	15	296	0.0507	7	c.161 others(22): Show c.161+805_161+811dupTTTTTTT	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST3_chr19_18092778_18156687	18141377	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00741.hp1 others(34): Show HG00323.hp2 HG00597.hp1 HG00741.hp1 HG01069.hp1 HG01109.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01515.hp1 HG01517.hp1 HG01978.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02523.hp1 HG03704.hp1 HG04184.hp1 NA18747.hp1 NA18945.hp2 NA18947.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18993.hp1 NA18997.hp1 NA18998.hp2 NA19010.hp1 NA19010.hp2 NA19057.hp2 NA19058.hp1 NA19066.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0002 a0001c0013 a0005c0020 others(1): Show a0001c0002 a0001c0013 a0005c0020 a0006c0015	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0013t0002 a0005c0020t0002 a0006c0015t0002	a0001c0002t0001g0059 a0001c0002t0001g0100 a0001c0002t0002g0005 others(34): Show a0001c0002t0001g0059 a0001c0002t0001g0100 a0001c0002t0002g0005 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0018 a0001c0002t0002g0023 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0039 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0061 a0001c0002t0002g0229 a0001c0002t0003g0097 a0001c0002t0003g0127 a0001c0013t0002g0040 a0005c0020t0002g0045 a0006c0015t0002g0009	37	296	0.1250	7	c.220 others(24): Show c.2206-498_2206-492dupTTTTTTT	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST4_chr5_66591393_67174593	66789988	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02897.hp1 HG02976.hp1 others(2): Show HG02886.hp1 HG02897.hp1 HG02976.hp1 HG03139.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0009 others(1): Show a0001c0001 a0001c0003 a0001c0009 a0002c0018	a0001c0001t0008 a0001c0001t0030 a0001c0003t0001 others(2): Show a0001c0001t0008 a0001c0001t0030 a0001c0003t0001 a0001c0009t0002 a0002c0018t0002	a0001c0001t0008g0076 a0001c0001t0030g0029 a0001c0003t0001g0077 others(2): Show a0001c0001t0008g0076 a0001c0001t0030g0029 a0001c0003t0001g0077 a0001c0009t0002g0006 a0002c0018t0002g0019	5	108	0.0463	7	c.642 others(24): Show c.642+1218_642+1224dupTTTTTTT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66866205	C C	CTGCATTT CTGCATTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG01168.hp2 others(34): Show HG01099.hp1 HG01099.hp2 HG01168.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01361.hp1 HG01361.hp2 HG01891.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02738.hp2 HG02809.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03486.hp1 HG03834.hp2 HG04199.hp1 HG04204.hp2 NA19043.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0012 a0013 a0014 a0015 a0018 a0020	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0033 a0001c0035 a0002c0004 a0003c0005 a0003c0013 a0004c0007 a0005c0006 a0006c0038 a0011c0028 a0012c0026 a0013c0027 a0014c0034 a0015c0020 a0018c0025 a0020c0030	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(29): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0026 a0001c0002t0001 a0001c0002t0005 a0001c0002t0016 a0001c0002t0019 a0001c0002t0020 a0001c0003t0001 a0001c0003t0004 a0001c0003t0023 a0001c0008t0006 a0001c0033t0007 a0001c0035t0007 a0002c0004t0002 a0002c0004t0012 a0003c0005t0025 a0003c0013t0017 a0004c0007t0004 a0004c0007t0009 a0005c0006t0001 a0005c0006t0005 a0006c0038t0031 a0011c0028t0003 a0012c0026t0001 a0013c0027t0009 a0014c0034t0002 a0015c0020t0013 a0018c0025t0006 a0020c0030t0004	a0001c0001t0003g0036 a0001c0001t0003g0050 a0001c0001t0003g0051 others(34): Show a0001c0001t0003g0036 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0004g0034 a0001c0001t0005g0041 a0001c0001t0006g0108 a0001c0001t0026g0105 a0001c0002t0001g0070 a0001c0002t0005g0038 a0001c0002t0016g0071 a0001c0002t0019g0068 a0001c0002t0020g0032 a0001c0003t0001g0090 a0001c0003t0004g0044 a0001c0003t0023g0046 a0001c0008t0006g0084 a0001c0033t0007g0016 a0001c0035t0007g0009 a0002c0004t0002g0020 a0002c0004t0002g0022 a0002c0004t0002g0024 a0002c0004t0012g0002 a0003c0005t0025g0106 a0003c0013t0017g0007 a0004c0007t0004g0066 a0004c0007t0009g0058 a0005c0006t0001g0094 a0005c0006t0005g0037 a0006c0038t0031g0014 a0011c0028t0003g0033 a0012c0026t0001g0104 a0013c0027t0009g0031 a0014c0034t0002g0011 a0015c0020t0013g0004 a0018c0025t0006g0072 a0020c0030t0004g0053	37	108	0.3426	7	c.643 others(26): Show c.643-33745_643-33739dupTGCATTT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67033345	G G	GTGTGTGT GTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp1 HG02258.hp1 HG03041.hp1	a0001 a0015 a0001 a0015	a0001c0002 a0015c0020 a0001c0002 a0015c0020	a0001c0002t0024 a0015c0020t0013 a0001c0002t0024 a0015c0020t0013	a0001c0002t0024g0049 a0015c0020t0013g0004 a0001c0002t0024g0049 a0015c0020t0013g0004	2	108	0.0185	7	c.675 others(26): Show c.675-21059_675-21058insTGTGTGT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28			chr5	TogoVar
MASTL_chr10_27150352_27192953	27171821	G G	GTTTATTT GTTTATTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03704.hp2 HG03942.hp1 others(5): Show HG02738.hp1 HG03704.hp2 HG03942.hp1 NA18950.hp2 NA18966.hp1 NA18973.hp1 NA18985.hp2 NA19078.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0010 a0002c0003t0004 a0002c0003t0010	a0002c0003t0004g0010 a0002c0003t0004g0268 a0002c0003t0004g0283 others(2): Show a0002c0003t0004g0010 a0002c0003t0004g0268 a0002c0003t0004g0283 a0002c0003t0004g0284 a0002c0003t0010g0282	8	398	0.0201	7	c.212 others(24): Show c.2124+741_2124+742insATTTTTT	MASTL	ENSG00000120539.15	transcript	ENST00000375940.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAT2B_chr5_163500619_163524354	163520507	C C	CTTTTTTT CTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG00738.hp2 others(23): Show HG00621.hp1 HG00642.hp1 HG00738.hp2 HG01081.hp1 HG01175.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp2 HG01928.hp2 HG01981.hp2 HG02055.hp1 HG02074.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02886.hp1 HG02965.hp2 HG03195.hp2 HG03516.hp2 HG03654.hp1 HG03688.hp2 HG03927.hp2 NA18961.hp1 NA18998.hp1 NA19062.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0033 others(15): Show a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0137 a0001c0001t0003g0050 a0001c0002t0001g0008 a0001c0002t0001g0019 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0123 a0001c0002t0001g0142 a0001c0004t0001g0054	26	370	0.0703	7	c.21 others(18): Show c.2144_*2145insTTTTTTT	MAT2B	ENSG00000038274.18	transcript	ENST00000321757.11	protein_coding		1154		chr5	TogoVar
MATCAP2_chr7_36319152_36372240	36328239	T T	TGGGGGGG TGGGGGGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00741.hp2 HG01243.hp2 others(7): Show HG00597.hp2 HG00741.hp2 HG01243.hp2 HG02572.hp1 HG03453.hp2 NA18955.hp1 NA18973.hp1 NA19066.hp1 NA19085.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0063 a0001c0001t0001g0083 others(6): Show a0001c0001t0001g0017 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0111 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0140	10	388	0.0258	7	c.139 others(26): Show c.1396-1322_1396-1321insCCCCCCC	MATCAP2	ENSG00000164542.13	transcript	ENST00000440378.6	protein_coding	6/6			chr7	TogoVar
MATCAP2_chr7_36319152_36372240	36337098	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00544.hp1 others(24): Show HG00099.hp1 HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG01109.hp1 HG01192.hp1 HG01361.hp1 HG02129.hp1 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG04228.hp2 NA18955.hp2 NA18961.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18993.hp2 NA18994.hp1 NA19002.hp1 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0005c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0021 others(19): Show a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0008g0207 a0001c0001t0014g0245 a0005c0004t0001g0038	27	388	0.0696	7	c.715 others(22): Show c.715-808_715-802dupTTTTTTT	MATCAP2	ENSG00000164542.13	transcript	ENST00000440378.6	protein_coding	2/6			chr7	TogoVar
MATCAP2_chr7_36319152_36372240	36343440	G G	GGAGGGGA GGAGGGGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02055.hp2 HG02280.hp2 others(4): Show HG01192.hp1 HG02055.hp2 HG02280.hp2 HG02451.hp1 HG02965.hp1 HG03041.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0001 a0001c0001t0008 a0001c0001t0010	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 others(4): Show a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0008g0207 a0001c0001t0008g0208 a0001c0001t0008g0238 a0001c0001t0010g0031	7	388	0.0180	7	c.715 others(24): Show c.715-7144_715-7143insTCCCCTC	MATCAP2	ENSG00000164542.13	transcript	ENST00000440378.6	protein_coding	2/6			chr7	TogoVar
MATN2_chr8_97864064_98041724	97945715	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG02622.hp1 others(4): Show HG01515.hp1 HG01517.hp2 HG02622.hp1 HG02717.hp1 NA18977.hp1 NA18987.hp2 NA19068.hp1	a0001 a0022 a0001 a0022	a0001c0002 a0001c0047 a0022c0048 a0001c0002 a0001c0047 a0022c0048	a0001c0002t0001 a0001c0047t0001 a0022c0048t0001 a0001c0002t0001 a0001c0047t0001 a0022c0048t0001	a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0093 others(4): Show a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0093 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0047t0001g0215 a0022c0048t0001g0114	7	318	0.0220	7	c.835 others(24): Show c.835+3816_835+3817insTATATAT	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	4/18			chr8	TogoVar
MATN2_chr8_97864064_98041724	97945717	A A	AAAAATAT AAAAATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02738.hp2 HG02886.hp1 others(4): Show HG00642.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG03098.hp2 HG03453.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0001c0017 a0002c0006 others(4): Show a0001c0008 a0001c0017 a0002c0006 a0002c0011 a0002c0031 a0002c0033 a0002c0077	a0001c0008t0007 a0001c0017t0016 a0002c0006t0001 others(4): Show a0001c0008t0007 a0001c0017t0016 a0002c0006t0001 a0002c0011t0001 a0002c0031t0002 a0002c0033t0003 a0002c0077t0002	a0001c0008t0007g0298 a0001c0017t0016g0115 a0002c0006t0001g0286 others(4): Show a0001c0008t0007g0298 a0001c0017t0016g0115 a0002c0006t0001g0286 a0002c0011t0001g0047 a0002c0031t0002g0142 a0002c0033t0003g0153 a0002c0077t0002g0118	7	318	0.0220	7	c.835 others(24): Show c.835+3819_835+3820insAAATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97945717	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18971.hp1 NA19010.hp2 others(2): Show HG03704.hp2 NA18971.hp1 NA19010.hp2 NA19012.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0024 a0001c0002 a0001c0024	a0001c0002t0001 a0001c0024t0002 a0001c0002t0001 a0001c0024t0002	a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 others(2): Show a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0203 a0001c0024t0002g0021	5	318	0.0157	7	c.835 others(24): Show c.835+3818_835+3819insTATATAT	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	4/18			chr8	TogoVar
MATN2_chr8_97864064_98041724	97992745	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02145.hp2 HG02647.hp1 others(12): Show HG00733.hp1 HG02145.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0026	a0001c0014 a0001c0016 a0001c0017 others(9): Show a0001c0014 a0001c0016 a0001c0017 a0001c0028 a0001c0058 a0001c0059 a0001c0075 a0002c0006 a0002c0031 a0008c0023 a0008c0042 a0026c0045	a0001c0014t0002 a0001c0016t0005 a0001c0017t0005 others(10): Show a0001c0014t0002 a0001c0016t0005 a0001c0017t0005 a0001c0017t0016 a0001c0028t0005 a0001c0058t0002 a0001c0059t0012 a0001c0075t0012 a0002c0006t0002 a0002c0031t0002 a0008c0023t0002 a0008c0042t0019 a0026c0045t0008	a0001c0014t0002g0014 a0001c0014t0002g0043 a0001c0014t0002g0045 others(12): Show a0001c0014t0002g0014 a0001c0014t0002g0043 a0001c0014t0002g0045 a0001c0016t0005g0095 a0001c0017t0005g0116 a0001c0017t0016g0115 a0001c0028t0005g0012 a0001c0058t0002g0003 a0001c0059t0012g0058 a0001c0075t0012g0147 a0002c0006t0002g0301 a0002c0031t0002g0142 a0008c0023t0002g0100 a0008c0042t0019g0318 a0026c0045t0008g0113	15	318	0.0472	7	c.108 others(26): Show c.1082-1716_1082-1710dupAAAAAAA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN3_chr2_19987052_20017668	20010067	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(17): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG01192.hp2 HG01243.hp1 HG01975.hp1 HG02004.hp2 HG02451.hp2 NA18612.hp2 NA18955.hp1 NA18960.hp1 NA18966.hp2 NA18987.hp1 NA18989.hp1 NA19002.hp1 NA19004.hp1 NA19006.hp1 NA19009.hp2 NA19054.hp2 NA19072.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0002c0007 others(3): Show a0001c0001 a0001c0003 a0002c0007 a0003c0005 a0004c0006 a0005c0008	a0001c0001t0001 a0001c0003t0001 a0002c0007t0005 others(3): Show a0001c0001t0001 a0001c0003t0001 a0002c0007t0005 a0003c0005t0001 a0004c0006t0001 a0005c0008t0003	a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0069 others(13): Show a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0069 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0003t0001g0185 a0001c0003t0001g0186 a0002c0007t0005g0064 a0003c0005t0001g0045 a0004c0006t0001g0184 a0005c0008t0003g0065	20	432	0.0463	7	c.223 others(24): Show c.223+2335_223+2341dupTTTTTTT	MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding	1/7			chr2	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01261.hp1 HG02717.hp1 others(5): Show HG01109.hp2 HG01261.hp1 HG02717.hp1 HG02922.hp1 HG03471.hp1 NA18985.hp2 NA19004.hp2 NA19043.hp1	a0003 a0004 a0008 others(4): Show a0003 a0004 a0008 a0011 a0012 a0016 a0017	a0003c0002 a0004c0005 a0008c0011 others(4): Show a0003c0002 a0004c0005 a0008c0011 a0011c0021 a0012c0017 a0016c0016 a0017c0015	a0003c0002t0002 a0004c0005t0002 a0008c0011t0008 others(4): Show a0003c0002t0002 a0004c0005t0002 a0008c0011t0008 a0011c0021t0002 a0012c0017t0007 a0016c0016t0007 a0017c0015t0007	a0003c0002t0002g0179 a0003c0002t0002g0180 a0004c0005t0002g0175 others(5): Show a0003c0002t0002g0179 a0003c0002t0002g0180 a0004c0005t0002g0175 a0008c0011t0008g0082 a0011c0021t0002g0181 a0012c0017t0007g0277 a0016c0016t0007g0276 a0017c0015t0007g0275	8	422	0.0190	7	c.-34 others(22): Show c.-34-196_-34-190dupAAAAAAA	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MAU2_chr19_19315829_19363754	19318113	C C	CTTTTCTT CTTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01515.hp1 HG01517.hp2 others(15): Show HG00099.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01978.hp1 HG02109.hp1 HG02280.hp1 HG02698.hp1 HG02970.hp1 HG02976.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03669.hp2 HG03704.hp2 HG04184.hp2 NA19057.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0012 a0001c0001 a0001c0005 a0002c0012	a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 others(5): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 a0001c0001t0028 a0001c0001t0029 a0001c0005t0038 a0002c0012t0005	a0001c0001t0004g0097 a0001c0001t0005g0019 a0001c0001t0005g0112 others(15): Show a0001c0001t0004g0097 a0001c0001t0005g0019 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0010g0099 a0001c0001t0010g0123 a0001c0001t0010g0156 a0001c0001t0010g0157 a0001c0001t0010g0158 a0001c0001t0010g0159 a0001c0001t0015g0019 a0001c0001t0015g0122 a0001c0001t0028g0111 a0001c0001t0028g0118 a0001c0001t0029g0121 a0001c0005t0038g0090 a0002c0012t0005g0115	18	344	0.0523	7	c.-27 others(18): Show c.-2747_-2746insTTTTCTT	MAU2	ENSG00000129933.21	transcript	ENST00000262815.13	protein_coding		2715		chr19	TogoVar
MAU2_chr19_19315829_19363754	19332326	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02132.hp1 HG02523.hp1 others(3): Show HG02129.hp1 HG02132.hp1 HG02523.hp1 NA18974.hp2 NA19007.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 a0001c0001 a0001c0005 a0001c0008	a0001c0001t0002 a0001c0005t0038 a0001c0008t0002 a0001c0001t0002 a0001c0005t0038 a0001c0008t0002	a0001c0001t0002g0015 a0001c0001t0002g0081 a0001c0001t0002g0094 others(2): Show a0001c0001t0002g0015 a0001c0001t0002g0081 a0001c0001t0002g0094 a0001c0005t0038g0090 a0001c0008t0002g0073	6	344	0.0174	7	c.277 others(24): Show c.277-3374_277-3368dupTTTTTTT	MAU2	ENSG00000129933.21	transcript	ENST00000262815.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAVS_chr20_3841834_3881118	3873863	A A	ACCAAAAG ACCAAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(61): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG01109.hp1 HG01934.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02135.hp2 HG02155.hp1 HG02622.hp2 HG02630.hp1 HG02897.hp2 HG03225.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03710.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18970.hp2 NA18973.hp1 NA18977.hp2 NA18986.hp2 NA18992.hp1 NA18999.hp2 NA19002.hp2 NA19006.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19060.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp2 NA19087.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0020 others(2): Show a0001 a0002 a0020 a0022 a0026	a0001c0003 a0002c0005 a0020c0020 others(2): Show a0001c0003 a0002c0005 a0020c0020 a0022c0030 a0026c0017	a0001c0003t0008 a0001c0003t0009 a0001c0003t0011 others(27): Show a0001c0003t0008 a0001c0003t0009 a0001c0003t0011 a0001c0003t0012 a0001c0003t0022 a0001c0003t0030 a0001c0003t0038 a0001c0003t0054 a0001c0003t0055 a0001c0003t0062 a0001c0003t0064 a0001c0003t0066 a0001c0003t0067 a0001c0003t0073 a0001c0003t0075 a0002c0005t0008 a0002c0005t0009 a0002c0005t0011 a0002c0005t0012 a0002c0005t0030 a0002c0005t0063 a0002c0005t0065 a0002c0005t0070 a0002c0005t0072 a0002c0005t0074 a0002c0005t0076 a0002c0005t0077 a0020c0020t0068 a0022c0030t0012 a0026c0017t0008	a0001c0003t0008g0012 a0001c0003t0008g0134 a0001c0003t0008g0204 others(61): Show a0001c0003t0008g0012 a0001c0003t0008g0134 a0001c0003t0008g0204 a0001c0003t0008g0257 a0001c0003t0009g0012 a0001c0003t0009g0200 a0001c0003t0009g0236 a0001c0003t0009g0246 a0001c0003t0009g0301 a0001c0003t0011g0135 a0001c0003t0011g0157 a0001c0003t0011g0191 a0001c0003t0011g0214 a0001c0003t0011g0248 a0001c0003t0011g0267 a0001c0003t0012g0051 a0001c0003t0012g0177 a0001c0003t0012g0244 a0001c0003t0012g0250 a0001c0003t0012g0255 a0001c0003t0012g0393 a0001c0003t0022g0138 a0001c0003t0022g0356 a0001c0003t0022g0357 a0001c0003t0022g0395 a0001c0003t0030g0146 a0001c0003t0030g0156 a0001c0003t0038g0282 a0001c0003t0038g0283 a0001c0003t0054g0387 a0001c0003t0055g0354 a0001c0003t0062g0202 a0001c0003t0064g0302 a0001c0003t0066g0374 a0001c0003t0067g0363 a0001c0003t0073g0139 a0001c0003t0075g0179 a0002c0005t0008g0047 a0002c0005t0008g0055 a0002c0005t0008g0066 a0002c0005t0008g0070 a0002c0005t0008g0080 a0002c0005t0008g0096 a0002c0005t0008g0119 a0002c0005t0009g0078 a0002c0005t0009g0087 a0002c0005t0009g0116 a0002c0005t0009g0121 a0002c0005t0009g0161 a0002c0005t0011g0028 a0002c0005t0011g0064 a0002c0005t0011g0346 a0002c0005t0012g0093 a0002c0005t0030g0167 a0002c0005t0063g0090 a0002c0005t0065g0101 a0002c0005t0070g0086 a0002c0005t0072g0069 a0002c0005t0074g0077 a0002c0005t0076g0094 a0002c0005t0077g0072 a0020c0020t0068g0196 a0022c0030t0012g0245 a0026c0017t0008g0299	64	420	0.1524	7	c.77 others(18): Show c.7719_*7725dupAAAAGCC	MAVS	ENSG00000088888.18	transcript	ENST00000428216.4	protein_coding	7/7	7726	INFO_REALIGN_3_PRIME	chr20	TogoVar
MBD3L1_chr19_8827377_8848319	8838252	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01074.hp1 HG01167.hp2 others(14): Show HG00099.hp2 HG01074.hp1 HG01167.hp2 HG01981.hp1 HG02015.hp1 HG02293.hp1 HG02451.hp1 HG02647.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 NA18612.hp2 NA18946.hp1 NA18970.hp2 NA18984.hp1 NA18992.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0042 others(6): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0123 a0001c0001t0001g0169 a0001c0001t0001g0222	17	428	0.0397	7	c.-10 others(26): Show c.-106-2638_-106-2632dupAAAAAAA	MBD3L1	ENSG00000170948.4	transcript	ENST00000595891.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
MBD3L2_chr19_7044321_7056735	7054060	G G	GTAATATA GTAATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp1 others(37): Show HG00544.hp1 HG00597.hp1 HG00609.hp1 HG01891.hp2 HG02015.hp1 HG02129.hp2 HG02165.hp2 HG02273.hp2 HG02523.hp2 HG02572.hp2 HG02683.hp2 HG02698.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03540.hp1 HG03669.hp2 NA18747.hp2 NA18941.hp2 NA18943.hp2 NA18946.hp1 NA18950.hp2 NA18956.hp2 NA18957.hp1 NA18962.hp2 NA18970.hp1 NA18983.hp1 NA18992.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19065.hp2 NA19066.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0010 others(6): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0034	40	258	0.1550	7	c.24 others(18): Show c.2438_*2439insTAATATA	MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding		2326		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7054060	G G	GTAATATA GTAATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp1 others(32): Show HG00544.hp1 HG00597.hp1 HG00609.hp1 HG01891.hp2 HG02015.hp2 HG02129.hp2 HG02165.hp2 HG02273.hp1 HG02523.hp2 HG02572.hp1 HG02683.hp2 HG02698.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp1 HG03209.hp1 HG03669.hp2 NA18747.hp2 NA18941.hp2 NA18946.hp1 NA18950.hp2 NA18953.hp2 NA18957.hp1 NA18962.hp2 NA18970.hp1 NA18976.hp2 NA18983.hp1 NA18988.hp2 NA18992.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19065.hp2 NA19066.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0006 a0001c0001t0001 a0001c0001t0002 a0002c0002t0006	a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0002g0003 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0002g0003 a0001c0001t0002g0019 a0002c0002t0006g0047	35	288	0.1215	7	c.22 others(18): Show c.2261_*2262insTATATTA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2146		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7034884	A A	ACATATAT ACATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01106.hp2 HG01123.hp1 others(18): Show HG00735.hp2 HG01106.hp2 HG01123.hp1 HG01169.hp2 HG01361.hp2 HG01516.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02976.hp2 HG03130.hp1 HG03471.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 NA19084.hp2 NA19240.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0001 a0001c0001t0002g0006 a0001c0001t0002g0014 others(4): Show a0001c0001t0001g0001 a0001c0001t0002g0006 a0001c0001t0002g0014 a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0004g0032	21	262	0.0802	7	c.29 others(18): Show c.2976_*2977insATATATG	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2864		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035325	A A	ATATATAT ATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 NA19003.hp1 NA19062.hp2 others(1): Show HG03491.hp2 NA19003.hp1 NA19062.hp2 NA19090.hp2	a0002 a0009 a0023 a0002 a0009 a0023	a0002c0002 a0009c0012 a0023c0031 a0002c0002 a0009c0012 a0023c0031	a0002c0002t0001 a0009c0012t0001 a0023c0031t0002 a0002c0002t0001 a0009c0012t0001 a0023c0031t0002	a0002c0002t0001g0038 a0009c0012t0001g0022 a0023c0031t0002g0051 a0002c0002t0001g0038 a0009c0012t0001g0022 a0023c0031t0002g0051	4	262	0.0153	7	c.25 others(18): Show c.2535_*2536insATATATA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2423		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035602	T T	TTAATAAA TTAATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 NA19089.hp2 HG01516.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0006 a0001c0001t0001g0001 a0001c0001t0002g0006	2	262	0.0076	7	c.22 others(18): Show c.2258_*2259insTTTATTA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2146		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7034884	A A	ACATATAT ACATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01123.hp2 HG01169.hp1 others(15): Show HG01106.hp2 HG01123.hp2 HG01169.hp1 HG01361.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02738.hp2 HG03130.hp2 HG03516.hp2 HG03710.hp1 NA18522.hp1 NA18995.hp2 NA19084.hp2 NA19091.hp2 NA19240.hp1 NA20752.hp2	a0002 a0018 a0021 a0002 a0018 a0021	a0002c0002 a0018c0025 a0021c0021 a0002c0002 a0018c0025 a0021c0021	a0002c0002t0001 a0018c0025t0001 a0021c0021t0001 a0002c0002t0001 a0018c0025t0001 a0021c0021t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0018c0025t0001g0002 others(1): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0018c0025t0001g0002 a0021c0021t0001g0002	18	249	0.0723	7	c.19 others(18): Show c.1990_*1991insCATATAT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		1874		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035325	A A	ATATATAT ATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01358.hp1 HG01517.hp1 others(7): Show HG00323.hp2 HG01358.hp1 HG01517.hp1 HG02071.hp1 HG03486.hp1 HG03491.hp2 HG03540.hp1 NA19003.hp1 NA19067.hp1 NA19090.hp1	a0001 a0002 a0010 others(2): Show a0001 a0002 a0010 a0011 a0015	a0001c0001 a0001c0013 a0001c0016 others(4): Show a0001c0001 a0001c0013 a0001c0016 a0002c0008 a0010c0027 a0011c0020 a0015c0023	a0001c0001t0002 a0001c0013t0002 a0001c0016t0002 others(4): Show a0001c0001t0002 a0001c0013t0002 a0001c0016t0002 a0002c0008t0002 a0010c0027t0002 a0011c0020t0002 a0015c0023t0002	a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0034 others(6): Show a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0034 a0001c0013t0002g0040 a0001c0016t0002g0038 a0002c0008t0002g0006 a0010c0027t0002g0009 a0011c0020t0002g0018 a0015c0023t0002g0009	10	249	0.0402	7	c.24 others(18): Show c.2431_*2432insTATATAT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2315		chr19	TogoVar
MBD5_chr2_148016091_148521971	148039829	T T	TAACCACA TAACCACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(37): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00642.hp1 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01123.hp2 HG01358.hp1 HG01517.hp2 HG01884.hp2 HG01978.hp1 HG02004.hp1 HG02129.hp1 HG02300.hp1 HG02602.hp2 HG02738.hp1 HG03017.hp1 HG03491.hp2 HG03669.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18962.hp2 NA18977.hp1 NA18980.hp2 NA18985.hp2 NA18988.hp1 NA18994.hp2 NA18995.hp2 NA19003.hp1 NA19007.hp1 NA19010.hp2 NA19068.hp2 NA19079.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0007c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0031 a0001c0002t0015 a0001c0008t0001 a0001c0010t0002 a0007c0004t0005	a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 others(37): Show a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0068 a0001c0001t0003g0047 a0001c0001t0003g0059 a0001c0001t0004g0038 a0001c0001t0004g0046 a0001c0001t0004g0049 a0001c0001t0004g0052 a0001c0001t0004g0065 a0001c0001t0010g0033 a0001c0001t0031g0048 a0001c0002t0015g0056 a0001c0008t0001g0045 a0001c0010t0002g0043 a0007c0004t0005g0057	40	188	0.2128	7	c.-92 others(28): Show c.-925+18146_-925+18147insACCACAA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148296863	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01169.hp1 HG00738.hp2 HG01081.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0001t0002 a0001c0001t0004 a0001c0001t0019	a0001c0001t0002g0103 a0001c0001t0004g0096 a0001c0001t0019g0146 a0001c0001t0002g0103 a0001c0001t0004g0096 a0001c0001t0019g0146	3	188	0.0160	7	c.-67 others(28): Show c.-679-45351_-679-45350insTTTTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13			chr2	TogoVar
MBD5_chr2_148016091_148521971	148296864	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02257.hp2 HG03139.hp1 others(4): Show HG00408.hp2 HG02257.hp2 HG03139.hp1 HG03209.hp2 NA18959.hp2 NA18985.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0027 a0001c0005t0001	a0001c0001t0001g0077 a0001c0001t0001g0155 a0001c0001t0002g0087 others(4): Show a0001c0001t0001g0077 a0001c0001t0001g0155 a0001c0001t0002g0087 a0001c0001t0004g0083 a0001c0001t0007g0010 a0001c0001t0027g0076 a0001c0005t0001g0144	7	188	0.0372	7	c.-67 others(28): Show c.-679-45336_-679-45330dupTTTTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148389249	A A	ACATATAT ACATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02004.hp1 HG03669.hp1 others(2): Show HG00323.hp1 HG02004.hp1 HG03669.hp1 NA18948.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0002g0055 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0002g0055 a0001c0001t0004g0049 a0001c0001t0005g0132	5	188	0.0266	7	c.-55 others(28): Show c.-557+46913_-557+46914insCATATAT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13			chr2	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(57): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00558.hp1 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01167.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01517.hp2 HG01928.hp2 HG02040.hp2 HG02083.hp2 HG02109.hp1 HG02165.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03225.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp2 HG03927.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18962.hp2 NA18966.hp2 NA18986.hp1 NA18997.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0006 a0003c0005t0001	a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0029 others(57): Show a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0190 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0002g0028 a0001c0001t0002g0062 a0001c0001t0002g0084 a0001c0001t0002g0174 a0001c0001t0003g0018 a0001c0001t0003g0047 a0001c0001t0004g0173 a0001c0002t0006g0248 a0003c0005t0001g0140	60	254	0.2362	7	c.174 others(26): Show c.174+15502_174+15508dupAAAAAAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97327560	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG01123.hp1 others(24): Show HG00423.hp2 HG00609.hp1 HG01123.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01516.hp2 HG01928.hp1 HG02148.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG03130.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03688.hp2 HG04115.hp2 HG06807.hp1 NA18943.hp2 NA18966.hp1 NA18988.hp2 NA19058.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0057 others(24): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0091 a0001c0001t0001g0135 a0001c0001t0001g0169 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0002g0017 a0001c0001t0002g0161 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0199 a0001c0001t0003g0163 a0001c0001t0004g0172 a0001c0001t0004g0210 a0001c0001t0007g0206 a0001c0001t0012g0227 a0001c0001t0015g0216 a0001c0001t0016g0245 a0001c0001t0017g0177	27	254	0.1063	7	c.175 others(24): Show c.175-6699_175-6693dupAAAAAAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97328641	A A	ACACAGTT ACACAGTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02572.hp2 HG02630.hp1 others(20): Show HG01981.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03516.hp1 NA18906.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18967.hp2 NA19056.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0004 a0001c0001 a0001c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0006 a0004c0004t0001	a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 others(20): Show a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0178 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0213 a0001c0001t0002g0205 a0001c0001t0003g0099 a0001c0001t0004g0112 a0001c0001t0004g0233 a0001c0002t0001g0008 a0001c0002t0001g0156 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0006g0126 a0001c0002t0006g0197 a0001c0002t0006g0212 a0001c0002t0006g0248 a0004c0004t0001g0232	23	254	0.0906	7	c.175 others(24): Show c.175-5632_175-5626dupCAGTTCA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97374063	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp1 HG02976.hp2 others(2): Show HG02280.hp1 HG02809.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0204 a0001c0001t0002g0006 a0001c0001t0002g0160 others(2): Show a0001c0001t0001g0204 a0001c0001t0002g0006 a0001c0001t0002g0160 a0001c0001t0002g0199 a0001c0001t0002g0205	5	254	0.0197	7	c.104 others(26): Show c.1048+8915_1048+8921dupTTTTTTT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL3_chrX_132364320_132494038	132408092	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19005.hp1 NA18967.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0178 a0001c0001t0003g0020 a0001c0001t0001g0178 a0001c0001t0003g0020	2	191	0.0105	7	c.178 others(24): Show c.178-1707_178-1701dupAAAAAAA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	2/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132446910	T T	TCTATACA TCTATACA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	191	0.0052	7	c.-70 others(26): Show c.-703-6597_-703-6596insTGTATAG	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	1/8			chrX	TogoVar
MBOAT7_chr19_54168415_54194580	54177900	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02300.hp2 HG02896.hp1 others(5): Show HG00741.hp2 HG02300.hp2 HG02896.hp1 HG03139.hp2 HG03492.hp2 HG04204.hp2 NA19009.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0024 others(1): Show a0001c0001 a0001c0002 a0001c0024 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0024t0002 a0002c0003t0003	a0001c0001t0001g0014 a0001c0001t0002g0216 a0001c0001t0002g0360 others(5): Show a0001c0001t0001g0014 a0001c0001t0002g0216 a0001c0001t0002g0360 a0001c0002t0004g0032 a0001c0002t0004g0113 a0001c0002t0004g0358 a0001c0024t0002g0359 a0002c0003t0003g0120	8	373	0.0215	7	c.103 others(24): Show c.1031+858_1031+864dupAAAAAAA	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	7/7			chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54181653	G G	GGAGGGAA GGAGGGAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp1 HG03098.hp1 others(2): Show HG02723.hp1 HG02965.hp1 HG03098.hp1 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0206 a0001c0001t0001g0230 a0001c0001t0001g0231 others(2): Show a0001c0001t0001g0206 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0252 a0001c0001t0011g0262	5	373	0.0134	7	c.494 others(22): Show c.494-521_494-520insTTCCCTC	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7			chr19	TogoVar

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