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
MATN2_chr8_97864064_98041724	97889489	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0024 a0001c0009t0001g0024	1	318	0.0031	19	c.142 others(36): Show c.142+1247_142+1248insTATATATATATATATATAT	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	2/18			chr8	TogoVar
MATN2_chr8_97864064_98041724	97945717	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0143 a0001c0020t0002g0143	1	318	0.0031	19	c.835 others(36): Show c.835+3819_835+3820insATATATATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN3_chr2_19987052_20017668	19987934	A A	ATATATAT others(12): Show ATATATATATCTATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	432	0.0023	19	c.51 others(30): Show c.5176_*5177insGTGTATATAGATATATATA	MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding		4117		chr2	TogoVar
MATN3_chr2_19987052_20017668	20010067	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA21309.hp2 HG03492.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0100 a0001c0003t0001g0247 a0001c0002t0002g0100 a0001c0003t0001g0247	2	432	0.0046	19	c.223 others(36): Show c.223+2323_223+2341dupTTTTTTTTTTTTTTTTTTT	MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding	1/7			chr2	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(20): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00733.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01175.hp2 HG01257.hp1 HG02015.hp1 HG03486.hp1 HG04204.hp1 NA18947.hp1 NA18948.hp1 NA18954.hp1 NA18960.hp2 NA19000.hp1 NA19068.hp1 NA19083.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1	a0001 a0003 a0010 others(1): Show a0001 a0003 a0010 a0020	a0001c0001 a0003c0002 a0010c0025 others(1): Show a0001c0001 a0003c0002 a0010c0025 a0020c0024	a0001c0001t0001 a0003c0002t0001 a0010c0025t0001 others(1): Show a0001c0001t0001 a0003c0002t0001 a0010c0025t0001 a0020c0024t0001	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0022 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0003c0002t0001g0236 a0003c0002t0001g0237 a0003c0002t0001g0238 a0010c0025t0001g0154 a0020c0024t0001g0150	23	422	0.0545	19	c.-34 others(34): Show c.-34-190_-34-189insAAAAAAAAAAAAAAAAAAA	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MATR3_chr5_139288740_139336677	139330503	T T	TACTTTTA others(12): Show TACTTTTAAATCTAGAGTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0205 a0001c0001t0021g0205	1	282	0.0036	19	c.11 others(30): Show c.1110_*1128dupCTTTTAAATCTAGAGTGAA	MATR3	ENSG00000015479.20	transcript	ENST00000394805.8	protein_coding	15/15	1129	INFO_REALIGN_3_PRIME	chr5	TogoVar
MAVS_chr20_3841834_3881118	3851990	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0128 a0010c0012t0128	a0010c0012t0128g0367 a0010c0012t0128g0367	1	420	0.0024	19	c.-67 others(36): Show c.-67-2551_-67-2550insTTTTTTTTTTTTTTTTTTT	MAVS	ENSG00000088888.18	transcript	ENST00000428216.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
MB21D2_chr3_192791815_192922856	192896418	G G	GTGGCTAT others(12): Show GTGGCTATTCACAGGTATGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0128 a0001c0001t0005g0128	1	298	0.0034	19	c.211 others(38): Show c.211+21211_211+21212insTCATACCTGTGAATAGCCA	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MB21D2_chr3_192791815_192922856	192896418	G G	GTGGCTAT others(12): Show GTGGCTATTCACAGGTGTGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(152): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01255.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18941.hp2 NA18943.hp2 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19072.hp2 NA19086.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010	a0001c0001 a0001c0002 a0001c0010 others(6): Show a0001c0001 a0001c0002 a0001c0010 a0002c0012 a0003c0005 a0004c0003 a0005c0006 a0007c0011 a0010c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0002t0003 a0001c0010t0004 a0002c0012t0001 a0003c0005t0001 a0004c0003t0001 a0005c0006t0004 a0007c0011t0005 a0010c0008t0002	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0018 others(152): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0100 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0157 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0289 a0001c0001t0002g0293 a0001c0001t0004g0108 a0001c0001t0004g0119 a0001c0001t0004g0130 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0153 a0001c0001t0004g0265 a0001c0001t0005g0109 a0001c0001t0005g0131 a0001c0001t0005g0135 a0001c0001t0005g0138 a0001c0001t0005g0144 a0001c0001t0005g0190 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0006g0075 a0001c0001t0007g0141 a0001c0001t0007g0156 a0001c0001t0007g0158 a0001c0001t0008g0098 a0001c0001t0009g0113 a0001c0001t0011g0155 a0001c0001t0012g0068 a0001c0001t0013g0142 a0001c0001t0015g0072 a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0023 a0001c0002t0003g0025 a0001c0002t0003g0032 a0001c0002t0003g0041 a0001c0002t0003g0045 a0001c0002t0003g0050 a0001c0002t0003g0056 a0001c0002t0003g0064 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0082 a0001c0002t0003g0088 a0001c0002t0003g0112 a0001c0010t0004g0092 a0002c0012t0001g0048 a0003c0005t0001g0076 a0004c0003t0001g0004 a0005c0006t0004g0145 a0007c0011t0005g0159 a0010c0008t0002g0057	155	298	0.5201	19	c.211 others(38): Show c.211+21211_211+21212insTCACACCTGTGAATAGCCA	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MBD1_chr18_50263846_50286523	50284704	T T	TCCACATC others(12): Show TCCACATCCACTTTACCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	402	0.0025	19	c.-33 others(30): Show c.-3386_-3368dupGAGGGTAAAGTGGATGTGG	MBD1	ENSG00000141644.19	transcript	ENST00000269468.10	protein_coding		3182		chr18	TogoVar
MBD2_chr18_54146606_54229669	54180890	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0023	1	300	0.0033	19	c.840 others(36): Show c.840+7983_840+7984insAAAAAAAAAAAAAAAAAAA	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	3/6			chr18	TogoVar
MBD2_chr18_54146606_54229669	54180897	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0021 a0001c0009t0005g0021	1	300	0.0033	19	c.840 others(36): Show c.840+7976_840+7977insAAAAAAAAAAAAAAAAAAA	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	3/6			chr18	TogoVar
MBD3L1_chr19_8827377_8848319	8838252	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01261.hp2 HG00735.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	2	428	0.0047	19	c.-10 others(38): Show c.-106-2650_-106-2632dupAAAAAAAAAAAAAAAAAAA	MBD3L1	ENSG00000170948.4	transcript	ENST00000595891.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
MBD3_chr19_1568596_1597865	1592381	A A	ACACGCAC others(12): Show ACACGCACGCAAGACGCACG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19066.hp2 NA18612.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0057 a0001c0001t0003g0058	2	400	0.0050	19	c.110 others(34): Show c.110+122_110+140dupCGTGCGTCTTGCGTGCGTG	MBD3	ENSG00000071655.18	transcript	ENST00000434436.8	protein_coding	1/6			chr19	TogoVar
MBD5_chr2_148016091_148521971	148288399	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01358.hp1 HG02055.hp2 others(14): Show HG01261.hp2 HG01358.hp1 HG02055.hp2 HG02486.hp2 HG02602.hp1 HG02683.hp2 HG02809.hp2 HG03017.hp1 HG03471.hp1 HG03704.hp1 HG06807.hp2 NA18906.hp2 NA18943.hp2 NA18948.hp2 NA18994.hp1 NA19068.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0005t0001	a0001c0001t0001g0062 a0001c0001t0001g0084 a0001c0001t0001g0129 others(14): Show a0001c0001t0001g0062 a0001c0001t0001g0084 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0162 a0001c0001t0001g0188 a0001c0001t0002g0006 a0001c0001t0002g0054 a0001c0001t0002g0135 a0001c0001t0002g0142 a0001c0001t0002g0164 a0001c0001t0004g0052 a0001c0001t0004g0183 a0001c0001t0009g0116 a0001c0001t0011g0031 a0001c0001t0012g0122 a0001c0005t0001g0144	17	188	0.0904	19	c.-67 others(40): Show c.-679-53800_-679-53799insAAAAAAAAAAAAAAAAAAA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148294501	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03540.hp1 NA18522.hp1 HG02897.hp1 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0003g0182 a0001c0001t0005g0153 a0001c0001t0006g0180 a0001c0001t0003g0182 a0001c0001t0005g0153 a0001c0001t0006g0180	3	188	0.0160	19	c.-67 others(40): Show c.-679-47711_-679-47693dupTTTTTTTTTTTTTTTTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148296864	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA19079.hp1 HG04184.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0123 a0001c0001t0001g0044 a0001c0001t0001g0123	2	188	0.0106	19	c.-67 others(40): Show c.-679-45348_-679-45330dupTTTTTTTTTTTTTTTTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBLAC2_chr5_90453209_90479771	90475486	A A	ATTATTAT others(12): Show ATTATTATTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02622.hp1 HG03041.hp1 HG01496.hp1 HG02622.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0022g0058 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0022g0058	3	378	0.0079	19	c.-11 others(30): Show c.-1195_-1194insATAAATAAATAAATAATAA	MBLAC2	ENSG00000176055.10	transcript	ENST00000316610.7	protein_coding		716		chr5	TogoVar
MBLAC2_chr5_90453209_90479771	90478569	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	378	0.0027	19	c.-42 others(30): Show c.-4278_-4277insAAAAAAAAAAAAAAAAAAA	MBLAC2	ENSG00000176055.10	transcript	ENST00000316610.7	protein_coding		3799		chr5	TogoVar
MBNL1_chr3_152263929_152470780	152325087	G G	GCCCCCCC others(12): Show GCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18981.hp2 NA18906.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0245 a0001c0001t0002g0269 a0001c0001t0001g0245 a0001c0001t0002g0269	2	338	0.0059	19	c.174 others(38): Show c.174+24729_174+24730insCCCCCCCCCCCCCCCCCCC	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL2_chr13_97217333_97399120	97287829	G G	GATTCTCC others(12): Show GATTCTCCTGCGTTCAAGCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp2 others(33): Show HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG01109.hp1 HG01261.hp2 HG01361.hp2 HG01516.hp2 HG01943.hp1 HG01993.hp2 HG02071.hp2 HG02148.hp1 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02572.hp1 HG02886.hp1 HG02922.hp1 HG03098.hp2 HG03209.hp1 HG03540.hp2 HG03688.hp2 HG04115.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18962.hp1 NA18966.hp1 NA18979.hp2 NA18988.hp1 NA18990.hp1 NA19000.hp1 NA19030.hp1 NA19043.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0003t0001 a0002c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0031 others(33): Show a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0215 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0002g0017 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0211 a0001c0001t0008g0005 a0001c0001t0013g0250 a0001c0003t0001g0243 a0001c0003t0001g0244 a0002c0006t0001g0171	36	254	0.1417	19	c.174 others(38): Show c.174+11438_174+11439insAATTCTCCTGCGTTCAAGC	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02486.hp1 HG02965.hp1 others(1): Show HG02071.hp1 HG02486.hp1 HG02965.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 a0001c0001t0001 a0001c0001t0007 a0001c0001t0017	a0001c0001t0001g0014 a0001c0001t0001g0178 a0001c0001t0007g0114 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0178 a0001c0001t0007g0114 a0001c0001t0017g0177	4	254	0.0158	19	c.174 others(38): Show c.174+15508_174+15509insAAAAAAAAAAAAAAAAAAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBOAT1_chr6_20094684_20217469	20208445	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01109.hp2 HG01175.hp2 others(26): Show HG00438.hp2 HG01109.hp2 HG01175.hp2 HG01361.hp1 HG01433.hp1 HG02015.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02293.hp2 HG02647.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp1 HG03041.hp1 HG03688.hp1 HG03942.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18967.hp2 NA18981.hp2 NA19058.hp1 NA19066.hp1 NA19066.hp2 NA19077.hp2 NA19083.hp1 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0001t0038 a0001c0001t0054 a0001c0001t0060 a0003c0003t0049	a0001c0001t0001g0014 a0001c0001t0001g0047 a0001c0001t0001g0089 others(26): Show a0001c0001t0001g0014 a0001c0001t0001g0047 a0001c0001t0001g0089 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0277 a0001c0001t0002g0045 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0003g0114 a0001c0001t0003g0121 a0001c0001t0004g0022 a0001c0001t0004g0046 a0001c0001t0004g0088 a0001c0001t0005g0118 a0001c0001t0005g0144 a0001c0001t0006g0032 a0001c0001t0006g0068 a0001c0001t0007g0119 a0001c0001t0007g0122 a0001c0001t0014g0141 a0001c0001t0018g0295 a0001c0001t0021g0120 a0001c0001t0038g0142 a0001c0001t0054g0143 a0001c0001t0060g0296 a0003c0003t0049g0053	29	336	0.0863	19	c.99+ others(34): Show c.99+3690_99+3691insTTTTTTTTTTTTTTTTTTT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT2_chr2_8847690_9008684	8912351	G G	GAAAGAAA others(12): Show GAAAGAAAGAAAGAAAGAGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0121 a0001c0001t0024g0121	1	162	0.0062	19	c.300 others(36): Show c.300-3636_300-3635insTCTCTTTCTTTCTTTCTTT	MBOAT2	ENSG00000143797.12	transcript	ENST00000305997.8	protein_coding	3/12			chr2	TogoVar
MBP_chr18_76973833_77137783	77084431	C C	CACACACA others(12): Show CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01516.hp1 others(1): Show HG01069.hp1 HG01071.hp2 HG01516.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0004 a0001c0001t0003 a0001c0001t0005 a0001c0002t0004	a0001c0001t0003g0201 a0001c0001t0005g0001 a0001c0002t0004g0111 a0001c0001t0003g0201 a0001c0001t0005g0001 a0001c0002t0004g0111	4	396	0.0101	19	c.52- others(36): Show c.52-18047_52-18046insTGTGTGTGTGTGTGTGTGT	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77098168	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02257.hp1 NA18983.hp1 HG01175.hp1 HG02257.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 a0001c0001t0004 a0001c0001t0006 a0001c0001t0018	a0001c0001t0004g0049 a0001c0001t0006g0299 a0001c0001t0018g0222 a0001c0001t0004g0049 a0001c0001t0006g0299 a0001c0001t0018g0222	3	396	0.0076	19	c.51+ others(34): Show c.51+7024_51+7042dupAAAAAAAAAAAAAAAAAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0292 a0001c0001t0037g0292	1	340	0.0029	19	c.41 others(30): Show c.4153_*4154insATATATATATTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21856277	T T	TCTCGCGC others(12): Show TCTCGCGCCTTTCTCTGCAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01123.hp1 HG01515.hp1 others(13): Show HG00733.hp2 HG01123.hp1 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG02040.hp1 HG02109.hp2 HG02273.hp2 HG03017.hp1 HG03453.hp2 HG06807.hp2 NA18970.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0001c0002t0004 a0001c0002t0014	a0001c0001t0001g0135 a0001c0001t0001g0187 a0001c0001t0001g0221 others(13): Show a0001c0001t0001g0135 a0001c0001t0001g0187 a0001c0001t0001g0221 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0002g0268 a0001c0001t0006g0222 a0001c0002t0002g0055 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0107 a0001c0002t0004g0099 a0001c0002t0004g0112 a0001c0002t0014g0089	16	308	0.0520	19	c.670 others(36): Show c.670+2856_670+2874dupGCCTTTCTCTGCAGCTCGC	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21856364	T T	TCTCTGCA others(12): Show TCTCTGCAGCTCGCCCCTTC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	308	0.0033	19	c.670 others(36): Show c.670+2892_670+2910dupGCCCCTTCCTCTGCAGCTC	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21879949	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01071.hp1 others(16): Show HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG02717.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03540.hp1 HG03710.hp1 HG03831.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0001t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0023 others(14): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0155 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0002t0002g0035 a0001c0002t0003g0026 a0001c0002t0003g0028 a0001c0002t0003g0030 a0001c0002t0003g0054 a0001c0002t0003g0109 a0001c0002t0003g0113 a0001c0002t0003g0125	19	308	0.0617	19	c.126 others(36): Show c.1262-945_1262-927dupTTTTTTTTTTTTTTTTTTT	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MB_chr22_35601764_35622329	35618887	A A	ATCCATCA others(12): Show ATCCATCACCCACCCATCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG01346.hp2 others(24): Show HG00544.hp1 HG00597.hp1 HG01346.hp2 HG01943.hp2 HG01978.hp1 HG02004.hp2 HG02074.hp1 HG02148.hp1 HG02165.hp2 HG02698.hp2 HG02965.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp1 NA18940.hp2 NA18955.hp2 NA18964.hp2 NA18977.hp2 NA18979.hp2 NA18990.hp2 NA19009.hp1 NA19062.hp1 NA19076.hp1 NA19077.hp2 NA19084.hp2 NA19086.hp2 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0001 a0002c0007t0001 a0001c0002t0001 a0002c0007t0001	a0001c0002t0001g0004 a0001c0002t0001g0066 a0001c0002t0001g0067 others(1): Show a0001c0002t0001g0004 a0001c0002t0001g0066 a0001c0002t0001g0067 a0002c0007t0001g0077	27	376	0.0718	19	c.-16 others(30): Show c.-1649_-1631dupGGGATGGGTGGGTGATGGA	MB	ENSG00000198125.13	transcript	ENST00000397326.7	protein_coding		1559		chr22	TogoVar
MC2R_chr18_13877044_13920536	13908706	T T	TTTGTGTG others(12): Show TTTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01123.hp2 HG02040.hp1 others(31): Show HG00609.hp2 HG01123.hp2 HG02040.hp1 HG02080.hp2 HG02615.hp1 HG02818.hp2 HG03098.hp2 HG03453.hp2 HG03486.hp2 HG03831.hp2 HG04184.hp1 HG04199.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18952.hp2 NA18956.hp2 NA18957.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18985.hp1 NA18998.hp1 NA19006.hp1 NA19009.hp2 NA19012.hp2 NA19056.hp1 NA19076.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA20300.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0005 a0001c0001 a0003c0003 a0005c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0003c0003t0031 a0005c0005t0060	a0001c0001t0002g0267 a0001c0001t0003g0044 a0001c0001t0003g0050 others(26): Show a0001c0001t0002g0267 a0001c0001t0003g0044 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0290 a0001c0001t0003g0298 a0001c0001t0006g0269 a0001c0001t0011g0313 a0001c0001t0011g0314 a0001c0001t0011g0315 a0001c0001t0012g0052 a0001c0001t0012g0299 a0001c0001t0023g0200 a0001c0001t0026g0268 a0001c0001t0027g0291 a0001c0001t0027g0294 a0001c0001t0040g0295 a0001c0001t0040g0297 a0001c0001t0041g0292 a0001c0001t0042g0053 a0001c0001t0045g0247 a0001c0001t0046g0245 a0001c0001t0069g0293 a0001c0001t0071g0312 a0001c0001t0072g0296 a0001c0001t0073g0300 a0003c0003t0031g0236 a0003c0003t0031g0238 a0005c0005t0060g0309	34	416	0.0817	19	c.-12 others(38): Show c.-129+6781_-129+6782insCACACACACACACACACAA	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	1/1			chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA19081.hp2 NA18954.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0001c0001t0001g0000 a0002c0002t0001g0000	2	428	0.0047	19	c.-25 others(30): Show c.-2544_-2543insAAAAAAAAAAATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCCC2_chr5_71582340_71663706	71633132	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0196 a0001c0001t0007g0196	1	350	0.0029	19	c.803 others(34): Show c.803+947_803+948insATATATATATATATATATA	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding	8/16			chr5	TogoVar
MCC_chr5_113017106_113493453	113456623	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0036 a0003c0015t0036	a0003c0015t0036g0018 a0003c0015t0036g0018	1	160	0.0063	19	c.170 others(38): Show c.170+31603_170+31621dupAAAAAAAAAAAAAAAAAAA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	1/18			chr5	TogoVar
MCEMP1_chr19_7672090_7684829	7674859	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02040.hp1 HG03041.hp1 others(4): Show HG00408.hp1 HG02040.hp1 HG03041.hp1 HG04115.hp1 HG04199.hp1 NA18612.hp2 NA19082.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0005 a0001c0001 a0009c0005	a0001c0001t0001 a0001c0001t0003 a0009c0005t0003 a0001c0001t0001 a0001c0001t0003 a0009c0005t0003	a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0003g0008 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0003g0008 a0001c0001t0003g0015 a0009c0005t0003g0008	7	448	0.0156	19	c.-22 others(30): Show c.-2262_-2261insTTTTTTTTTTTTTTTTTTT	MCEMP1	ENSG00000183019.8	transcript	ENST00000333598.8	protein_coding		2230		chr19	TogoVar
MCF2L2_chr3_183173041_183433619	183269230	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp1 HG03098.hp1 others(3): Show HG02717.hp2 HG02818.hp1 HG03098.hp1 NA18984.hp1 NA18994.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0022	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0022c0021	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0022 a0022c0021t0003	a0001c0001t0002g0054 a0001c0001t0002g0146 a0002c0002t0001g0099 others(3): Show a0001c0001t0002g0054 a0001c0001t0002g0146 a0002c0002t0001g0099 a0002c0002t0002g0091 a0003c0003t0022g0157 a0022c0021t0003g0027	6	176	0.0341	19	c.186 others(38): Show c.1862+7641_1862+7642insAAAAAAAAAAAAAAAAAAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	15/29			chr3	TogoVar
MCM4_chr8_47955941_47983160	47972617	C C	CTTGCTCG others(12): Show CTTGCTCGACGGTCAAGGTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	314	0.0032	19	c.192 others(36): Show c.1929-240_1929-239insTTGCTCGACGGTCAAGGTG	MCM4	ENSG00000104738.19	transcript	ENST00000649973.1	protein_coding	13/16			chr8	TogoVar
MCM9_chr6_118808455_118940159	118893922	T T	TCCCGCCG others(12): Show TCCCGCCGCAGCCACGCCTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG01069.hp1 others(51): Show HG00408.hp1 HG00609.hp1 HG01069.hp1 HG01071.hp1 HG01192.hp1 HG01243.hp2 HG01884.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02280.hp2 HG02523.hp1 HG02572.hp1 HG02622.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18985.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19055.hp2 NA19056.hp2 NA19060.hp1 NA19082.hp1 NA19085.hp2 NA21309.hp1	a0001 a0011 a0017 others(2): Show a0001 a0011 a0017 a0018 a0019	a0001c0002 a0001c0017 a0011c0016 others(3): Show a0001c0002 a0001c0017 a0011c0016 a0017c0014 a0018c0015 a0019c0012	a0001c0002t0003 a0001c0002t0012 a0001c0002t0017 others(7): Show a0001c0002t0003 a0001c0002t0012 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0017t0003 a0011c0016t0015 a0017c0014t0003 a0018c0015t0003 a0019c0012t0003	a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0103 others(49): Show a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0103 a0001c0002t0003g0109 a0001c0002t0003g0111 a0001c0002t0003g0112 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0135 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0147 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0012g0012 a0001c0002t0017g0113 a0001c0002t0018g0124 a0001c0002t0019g0161 a0001c0017t0003g0108 a0011c0016t0015g0148 a0017c0014t0003g0136 a0018c0015t0003g0152 a0019c0012t0003g0110	54	348	0.1552	19	c.115 others(40): Show c.1150+17709_1150+17727dupGAGGCGTGGCTGCGGCGGG	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	8/13			chr6	TogoVar
MCMDC2_chr8_66865771_66927048	66902711	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0040 a0004c0004t0003g0040	1	202	0.0050	19	c.176 others(38): Show c.1769+1364_1769+1365insAAAAAAAAATATATATATA	MCMDC2	ENSG00000178460.18	transcript	ENST00000422365.7	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCPH1_chr8_6401627_6653508	6562552	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03041.hp1 HG03195.hp2 others(3): Show HG00735.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG04204.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0017 a0038	a0001c0065 a0003c0016 a0005c0004 others(3): Show a0001c0065 a0003c0016 a0005c0004 a0006c0009 a0017c0051 a0038c0056	a0001c0065t0004 a0003c0016t0065 a0005c0004t0001 others(3): Show a0001c0065t0004 a0003c0016t0065 a0005c0004t0001 a0006c0009t0050 a0017c0051t0027 a0038c0056t0027	a0001c0065t0004g0242 a0003c0016t0065g0125 a0005c0004t0001g0091 others(3): Show a0001c0065t0004g0242 a0003c0016t0065g0125 a0005c0004t0001g0091 a0006c0009t0050g0054 a0017c0051t0027g0237 a0038c0056t0027g0214	6	262	0.0229	19	c.221 others(40): Show c.2215-58901_2215-58883dupTTTTTTTTTTTTTTTTTTT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCTP1_chr5_94698690_95290094	94982884	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	98	0.0102	19	c.839 others(38): Show c.839-29542_839-29524dupTTTTTTTTTTTTTTTTTTT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	2/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95061408	G G	GTTGTTTT others(12): Show GTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0066 a0001c0002t0008g0066	1	98	0.0102	19	c.721 others(38): Show c.721-43925_721-43924insAAAAAAAAAAAAAAAACAA	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94267869	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03139.hp2 HG02630.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0074 a0001c0001t0009g0030 a0001c0001t0001g0074 a0001c0001t0009g0030	2	276	0.0073	19	c.-65 others(38): Show c.-65-30318_-65-30317insTTTTTTTTTTTTTTTTTTT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94325812	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0034 a0003c0009t0034	a0003c0009t0034g0102 a0003c0009t0034g0102	1	276	0.0036	19	c.637 others(38): Show c.637+10183_637+10201dupTTTTTTTTTTTTTTTTTTT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCU_chr10_72687143_72892694	72714345	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01169.hp1 HG01891.hp1 others(4): Show HG01106.hp1 HG01169.hp1 HG01891.hp1 HG02738.hp2 HG03486.hp1 HG03704.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0147 a0001c0001t0001g0158 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0001g0184 a0001c0001t0001g0197 a0001c0001t0001g0201	7	210	0.0333	19	c.150 others(38): Show c.150+22049_150+22067dupTTTTTTTTTTTTTTTTTTT	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCU_chr10_72687143_72892694	72822662	C C	CTAAGATA others(12): Show CTAAGATAGGTATAATCCAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	210	0.0048	19	c.151 others(38): Show c.151-11681_151-11680insCAATAAGATAGGTATAATC	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MDC1_chr6_30694807_30722281	30708855	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18945.hp2 NA18946.hp1 others(9): Show HG00438.hp1 NA18945.hp2 NA18946.hp1 NA18955.hp2 NA18963.hp2 NA18970.hp2 NA18973.hp1 NA18986.hp2 NA18992.hp1 NA19079.hp2 NA19083.hp2 NA19087.hp2	a0004 a0011 a0033 a0004 a0011 a0033	a0004c0004 a0011c0014 a0033c0026 a0004c0004 a0011c0014 a0033c0026	a0004c0004t0002 a0011c0014t0002 a0033c0026t0002 a0004c0004t0002 a0011c0014t0002 a0033c0026t0002	a0004c0004t0002g0013 a0004c0004t0002g0199 a0004c0004t0002g0211 others(4): Show a0004c0004t0002g0013 a0004c0004t0002g0199 a0004c0004t0002g0211 a0004c0004t0002g0212 a0011c0014t0002g0210 a0011c0014t0002g0217 a0033c0026t0002g0222	12	413	0.0291	19	c.222 others(36): Show c.2222-517_2222-499dupTTTTTTTTTTTTTTTTTTT	MDC1	ENSG00000137337.16	transcript	ENST00000376406.8	protein_coding	7/14			chr6	TogoVar
MDFIC2_chr3_70189479_70317638	70237979	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	370	0.0027	19	c.89- others(36): Show c.89-31208_89-31190dupAAAAAAAAAAAAAAAAAAA	MDFIC2	ENSG00000242120.4	transcript	ENST00000567252.2	protein_coding	2/3			chr3	TogoVar
MDFIC_chr7_114917094_115024917	114919279	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01167.hp2 HG01243.hp2 others(4): Show HG00673.hp2 HG01167.hp2 HG01243.hp2 HG02055.hp2 HG02165.hp2 HG02886.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0019 a0001c0001t0025	a0001c0001t0004g0188 a0001c0001t0006g0180 a0001c0001t0007g0268 others(4): Show a0001c0001t0004g0188 a0001c0001t0006g0180 a0001c0001t0007g0268 a0001c0001t0016g0244 a0001c0001t0019g0243 a0001c0001t0019g0278 a0001c0001t0025g0127	7	334	0.0210	19	c.-34 others(30): Show c.-3465_-3464insTTTTTTTTTTTTTTTTTTT	MDFIC	ENSG00000135272.13	transcript	ENST00000393486.6	protein_coding		2814		chr7	TogoVar

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