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
MAD1L1_chr7_1810795_2237945	1929998	CCACTGCC others(48): Show CCACTGCCACAACCCCTCATCCCGTCCCCTACTGCCACATCCCACCACCA CGTCCA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02976.hp2 HG03471.hp2 HG01243.hp1 HG02976.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0246 a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0001g0246 a0001c0001t0006g0262 a0001c0001t0006g0263	3	264	0.0114	-55	c.180 others(74): Show c.1807+6634_1807+6688delTGGACGTGGTGGTGGGATGTGGCAGT AGGGGACGGGATGAGGGGTTGTGGCAGTG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2035232	AGTCCAGG others(48): Show AGTCCAGGCTCCCAGGCATGAGCGCGGGAGCGCTGACAAGTCGGGACAGA GCTGGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG01074.hp2 others(46): Show HG00438.hp2 HG00558.hp2 HG01074.hp2 HG01081.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01515.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG04228.hp1 HG06807.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18963.hp1 NA18969.hp2 NA18985.hp2 NA18990.hp1 NA19012.hp2 NA19043.hp2 NA19056.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0006t0001 a0001c0007t0004 a0006c0009t0001	a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0145 others(46): Show a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0002g0166 a0001c0001t0005g0137 a0001c0001t0005g0222 a0001c0003t0001g0015 a0001c0003t0001g0033 a0001c0003t0001g0042 a0001c0003t0001g0074 a0001c0003t0001g0088 a0001c0006t0001g0158 a0001c0006t0001g0218 a0001c0006t0001g0237 a0001c0007t0004g0078 a0006c0009t0001g0194	49	264	0.1856	-55	c.121 others(76): Show c.1219-20645_1219-20591delCCCAGCTCTGTCCCGACTTGTCAG CGCTCCCGCGCTCATGCCTGGGAGCCTGGAC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2035603	CGGGACAG others(48): Show CGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGA CAAGTG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02165.hp2 HG02280.hp2 others(6): Show HG01175.hp2 HG02165.hp2 HG02280.hp2 HG02300.hp2 HG02630.hp1 HG02738.hp2 HG02922.hp2 HG03540.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0003c0015	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0004t0001 a0003c0015t0001	a0001c0001t0001g0090 a0001c0001t0001g0172 a0001c0001t0001g0174 others(6): Show a0001c0001t0001g0090 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0003t0001g0064 a0002c0002t0001g0003 a0002c0004t0001g0120 a0003c0015t0001g0067	9	264	0.0341	-55	c.121 others(76): Show c.1219-21016_1219-20962delCACTTGTCAGTGCTCCCGCGCTCA TGCCTGGGAGCCTGGACCCCAGCTCTGTCCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2036098	TGGGACAG others(48): Show TGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGA CAAGTG	T T	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	264	0.0038	-55	c.121 others(76): Show c.1219-21511_1219-21457delCACTTGTCAGTGCTCCCGCGCTCA TGCCTGGGAGCCTGGACCCCAGCTCTGTCCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2104638	CTGAAAAC others(48): Show CTGAAAACATAACTGTTTTATACTTACATGCCTCATTGTGACATCCCTAA CGCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(74): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02056.hp2 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02735.hp1 HG02738.hp2 HG03239.hp1 HG03239.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 NA18612.hp1 NA18940.hp2 NA18942.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19009.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19081.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0004 a0002c0011 a0004c0010 a0005c0008	a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 a0001c0005t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0004t0001 a0002c0011t0001 a0004c0010t0001 a0005c0008t0001	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0163 others(74): Show a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0163 a0001c0001t0001g0182 a0001c0001t0001g0246 a0001c0001t0008g0001 a0001c0003t0001g0005 a0001c0003t0001g0036 a0001c0003t0001g0039 a0001c0005t0001g0092 a0001c0005t0001g0093 a0001c0005t0001g0094 a0001c0005t0001g0097 a0001c0005t0001g0098 a0001c0005t0001g0099 a0001c0005t0001g0100 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0075 a0002c0002t0001g0176 a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0010g0264 a0002c0004t0001g0086 a0002c0004t0001g0089 a0002c0004t0001g0104 a0002c0004t0001g0110 a0002c0004t0001g0120 a0002c0004t0001g0192 a0002c0004t0001g0196 a0002c0004t0001g0213 a0002c0011t0001g0096 a0004c0010t0001g0205 a0005c0008t0001g0044	77	264	0.2917	-55	c.107 others(76): Show c.1074-35355_1074-35301delAAGGCGTTAGGGATGTCACAATGA GGCATGTAAGTATAAAACAGTTATGTTTTCA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	11/18			chr7	TogoVar
MAGEB10_chrX_27802990_27828014	27809488	CCCCCCGC others(48): Show CCCCCCGCCCCGCCCGCCCCCCCCCCCGCCCGCCCCCCCCCCGCCGCCGG CCCCCG	C C	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	250	0.0040	-55	c.-19 others(74): Show c.-199+1457_-199+1511delCGCCCCGCCCGCCCCCCCCCCCGCCC GCCCCCCCCCCGCCGCCGGCCCCCGCCCC	MAGEB10	ENSG00000177689.10	transcript	ENST00000356790.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
MANBA_chr4_102625770_102765968	102756830	TGCTTCAA others(48): Show TGCTTCAAAACTTACACCAGTGAGAAATTCCACAGAAAAGCTGAGAACAT TCCTAA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	280	0.0036	-55	c.177 others(72): Show c.177+3833_177+3887delTTAGGAATGTTCTCAGCTTTTCTGTGGA ATTTCTCACTGGTGTAAGTTTTGAAGC	MANBA	ENSG00000109323.11	transcript	ENST00000647097.2	protein_coding	1/16			chr4	TogoVar
MAP3K5_chr6_136552046_136797477	136559358	ACAAAAAC others(48): Show ACAAAAACAAAAACAAAAACAAAAACAAAAACAAGAAATGCATCCATATT AACTTC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00544.hp2 others(21): Show HG00323.hp1 HG00423.hp2 HG00544.hp2 HG00735.hp1 HG01074.hp2 HG01106.hp1 HG01243.hp1 HG01257.hp2 HG02074.hp2 HG02083.hp2 HG02165.hp1 HG02280.hp2 HG02723.hp1 HG03139.hp1 HG03540.hp1 HG04204.hp2 NA18949.hp1 NA18959.hp1 NA18964.hp2 NA18969.hp1 NA18971.hp2 NA18981.hp1 NA18993.hp2 NA19060.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0001c0018 a0007c0027	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0012t0001 a0001c0018t0001 a0007c0027t0001	a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0110 others(21): Show a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0002t0001g0016 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0023 a0001c0002t0001g0036 a0001c0002t0001g0045 a0001c0003t0001g0080 a0001c0003t0001g0096 a0001c0003t0001g0137 a0001c0004t0001g0066 a0001c0005t0001g0025 a0001c0005t0001g0034 a0001c0005t0001g0046 a0001c0005t0001g0050 a0001c0012t0001g0074 a0001c0012t0001g0105 a0001c0018t0001g0053 a0007c0027t0001g0143	24	162	0.1482	-55	c.398 others(72): Show c.3988-537_3988-483delGAAGTTAATATGGATGCATTTCTTGTTT TTGTTTTTGTTTTTGTTTTTGTTTTTG	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	28/29			chr6	TogoVar
MARCHF4_chr2_216252865_216377483	216269217	CTCTTACA others(48): Show CTCTTACATCTGTGGAGTTAAAAAAATGTTTTTTTGGTGCCAAAGCCCTT AATTAA	C C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0290 a0001c0002t0002g0290	1	330	0.0030	-55	c.865 others(72): Show c.865+8400_865+8454delTTAATTAAGGGCTTTGGCACCAAAAAAA CATTTTTTTAACTCCACAGATGTAAGA	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	3/3			chr2	TogoVar
MARCHF4_chr2_216252865_216377483	216370606	TAGAGCCT others(48): Show TAGAGCCTCTGTCGAATTGTTTAAATCAATGTCGAATTGTTTAAAAGTTC CCCAGG	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0010 a0001c0002t0031g0010	1	330	0.0030	-55	c.-40 others(64): Show c.-401_-347delCCTGGGGAACTTTTAAACAATTCGACATTGATTTAA ACAATTCGACAGAGGCTCT	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/4	347		chr2	TogoVar
MARCHF6_chr5_10348695_10445388	10435657	ATATATAT others(48): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT TTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp1 HG02451.hp1 HG02559.hp1 others(7): Show HG01074.hp1 HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0116 a0001c0001t0117 a0001c0001t0001 a0001c0001t0116 a0001c0001t0117	a0001c0001t0001g0132 a0001c0001t0001g0148 a0001c0001t0001g0149 others(7): Show a0001c0001t0001g0132 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0116g0152 a0001c0001t0117g0153	10	284	0.0352	-55	c.19 others(66): Show c.1975_*2029delATATATATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTT	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26	1975	INFO_REALIGN_3_PRIME	chr5	TogoVar
MARCO_chr2_118937194_118999660	118986589	GAAAGAAA others(48): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG03540.hp2 others(1): Show HG02451.hp2 HG02647.hp2 HG03540.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0001 a0002c0006t0001 a0001c0003t0001 a0002c0006t0001	a0001c0003t0001g0220 a0001c0003t0001g0222 a0002c0006t0001g0144 others(1): Show a0001c0003t0001g0220 a0001c0003t0001g0222 a0002c0006t0001g0144 a0002c0006t0001g0145	4	394	0.0102	-55	c.106 others(74): Show c.1064-3999_1064-3945delAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAA	MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	12/16			chr2	TogoVar
MARS1_chr12_57483068_57521652	57493434	TATATTAC others(48): Show TATATTACATAATATATAATATATTATAATATATAATATATAATATATAA TATATA	T T	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA19080.hp1 NA18941.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0113 a0001c0001t0001g0029 a0001c0001t0001g0113	2	288	0.0069	-55	c.770 others(72): Show c.770+2795_770+2849delTACATAATATATAATATATTATAATATA TAATATATAATATATAATATATAATAT	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MB21D2_chr3_192791815_192922856	192828591	CATATATA others(48): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	298	0.0034	-55	c.212 others(74): Show c.212-28996_212-28942delTATATATATATATATATATATATATA TATATATATATATATATATATATATATAT	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MBLAC1_chr7_100121967_100133495	100131234	TTTTTCTT others(48): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	-55	c.30 others(66): Show c.3039_*3093delTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTC	MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding		2740		chr7	TogoVar
MDFIC2_chr3_70189479_70317638	70211362	TTGCCCTT others(48): Show TTGCCCTTCCCTTCCCTTTCCTTCCTTTCCCTTCCCTTCCTTTTGCCCTT CCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp1 HG01074.hp2 others(10): Show HG00733.hp1 HG00741.hp1 HG01074.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01257.hp1 HG01261.hp1 HG02004.hp1 HG03831.hp1 HG03942.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0025 a0001c0001t0001 a0001c0001t0006 a0001c0001t0025	a0001c0001t0001g0212 a0001c0001t0006g0011 a0001c0001t0006g0051 others(10): Show a0001c0001t0001g0212 a0001c0001t0006g0011 a0001c0001t0006g0051 a0001c0001t0006g0070 a0001c0001t0006g0160 a0001c0001t0006g0223 a0001c0001t0006g0224 a0001c0001t0006g0237 a0001c0001t0006g0255 a0001c0001t0006g0264 a0001c0001t0006g0272 a0001c0001t0006g0274 a0001c0001t0025g0299	13	370	0.0351	-55	c.89- others(70): Show c.89-4627_89-4573delGAAGGGAAGGGCAAAAGGAAGGGAAGGGAA AGGAAGGAAAGGGAAGGGAAGGGCA	MDFIC2	ENSG00000242120.4	transcript	ENST00000567252.2	protein_coding	2/3			chr3	TogoVar
MED12L_chr3_151080664_151441653	151081299	CTCCCTTC others(48): Show CTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG02148.hp2 HG03017.hp1 others(5): Show HG01928.hp2 HG02148.hp2 HG03017.hp1 HG03491.hp1 HG03688.hp2 NA18939.hp2 NA18941.hp2 NA19006.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0005 a0001c0007 others(3): Show a0001c0002 a0001c0005 a0001c0007 a0001c0033 a0002c0003 a0005c0037	a0001c0002t0001 a0001c0005t0001 a0001c0007t0001 others(4): Show a0001c0002t0001 a0001c0005t0001 a0001c0007t0001 a0001c0007t0015 a0001c0033t0035 a0002c0003t0004 a0005c0037t0001	a0001c0002t0001g0131 a0001c0005t0001g0044 a0001c0007t0001g0040 others(5): Show a0001c0002t0001g0131 a0001c0005t0001g0044 a0001c0007t0001g0040 a0001c0007t0015g0041 a0001c0033t0035g0130 a0002c0003t0004g0043 a0002c0003t0004g0132 a0005c0037t0001g0042	8	280	0.0286	-55	c.-47 others(66): Show c.-4766_-4712delTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding		4364		chr3	TogoVar
MED12L_chr3_151080664_151441653	151368604	TATTTTAT others(48): Show TATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTCATTT CATTTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02572.hp1 others(5): Show HG01167.hp1 HG01169.hp2 HG02572.hp1 HG02922.hp2 HG03471.hp2 HG03516.hp2 NA19043.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0010 a0001c0013 others(2): Show a0001c0001 a0001c0010 a0001c0013 a0001c0018 a0003c0043	a0001c0001t0002 a0001c0001t0009 a0001c0001t0023 others(4): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0023 a0001c0010t0001 a0001c0013t0010 a0001c0018t0002 a0003c0043t0001	a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0009g0081 others(5): Show a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0009g0081 a0001c0001t0023g0082 a0001c0010t0001g0083 a0001c0013t0010g0039 a0001c0018t0002g0038 a0003c0043t0001g0103	8	280	0.0286	-55	c.355 others(72): Show c.3550+358_3550+412delTATTTTATTTTATTTTATTTTATTTCAT TTCATTTCATTTCATTTCATTTCATTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151368629	TATTTCAT others(48): Show TATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATGT CATTTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG01069.hp2 others(10): Show HG00323.hp1 HG00733.hp1 HG01069.hp2 HG01071.hp1 HG02280.hp1 HG02647.hp2 HG02683.hp1 HG02809.hp1 HG03669.hp1 HG03688.hp1 HG04199.hp2 NA18956.hp2 NA18969.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0010 a0001c0019 others(1): Show a0001c0004 a0001c0010 a0001c0019 a0002c0003	a0001c0004t0002 a0001c0010t0038 a0001c0019t0002 others(6): Show a0001c0004t0002 a0001c0010t0038 a0001c0019t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0041	a0001c0004t0002g0250 a0001c0010t0038g0124 a0001c0019t0002g0024 others(10): Show a0001c0004t0002g0250 a0001c0010t0038g0124 a0001c0019t0002g0024 a0001c0019t0002g0025 a0002c0003t0001g0275 a0002c0003t0002g0056 a0002c0003t0003g0119 a0002c0003t0003g0120 a0002c0003t0004g0118 a0002c0003t0004g0234 a0002c0003t0004g0248 a0002c0003t0005g0227 a0002c0003t0041g0146	13	280	0.0464	-55	c.355 others(72): Show c.3550+383_3550+437delCATTTCATTTCATTTCATTTCATTTCAT TTCATTTCATTTCATGTCATTTCATTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151368634	CATTTCAT others(48): Show CATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATGTCATTT CATTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG03195.hp2 HG02109.hp1 HG02615.hp1 HG03195.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0011 a0001c0014t0011	a0001c0014t0011g0029 a0001c0014t0011g0105 a0001c0014t0011g0127 a0001c0014t0011g0029 a0001c0014t0011g0105 a0001c0014t0011g0127	3	280	0.0107	-55	c.355 others(72): Show c.3550+426_3550+480delGTCATTTCATTTTATTTCATTTCATTTC ATTTCATTTCATTTCATTTCATTTCAT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151368677	GTCATTTC others(48): Show GTCATTTCATTTTATTTCATTTCATTTCATTTCATTTCATTTCATTTCAT TTCATT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01257.hp1 HG01928.hp2 others(15): Show HG01123.hp2 HG01257.hp1 HG01928.hp2 HG01952.hp1 HG01993.hp2 HG02015.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02300.hp1 HG02486.hp1 HG02698.hp1 HG03831.hp2 NA18939.hp2 NA18979.hp2 NA18986.hp2 NA18989.hp2 NA19081.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0011 a0001c0027 a0001c0036 a0005c0037	a0001c0001t0002 a0001c0004t0055 a0001c0005t0001 others(7): Show a0001c0001t0002 a0001c0004t0055 a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0011t0001 a0001c0011t0002 a0001c0027t0001 a0001c0036t0001 a0005c0037t0001	a0001c0001t0002g0212 a0001c0004t0055g0003 a0001c0005t0001g0044 others(15): Show a0001c0001t0002g0212 a0001c0004t0055g0003 a0001c0005t0001g0044 a0001c0005t0001g0088 a0001c0005t0001g0139 a0001c0005t0001g0167 a0001c0005t0001g0186 a0001c0005t0001g0187 a0001c0005t0001g0225 a0001c0005t0001g0252 a0001c0005t0002g0190 a0001c0005t0005g0271 a0001c0011t0001g0019 a0001c0011t0001g0047 a0001c0011t0002g0020 a0001c0027t0001g0045 a0001c0036t0001g0278 a0005c0037t0001g0042	18	280	0.0643	-55	c.355 others(72): Show c.3550+438_3550+492delTATTTCATTTCATTTCATTTCATTTCAT TTCATTTCATTTCATTTCATTTCATTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MEGF6_chr1_3482951_3616508	3585363	CGTCCTGT others(48): Show CGTCCTGTGTGTGGGTGTCTGGACGCATGTCCTGTGTGTGGGTGTGAGTG ACACAT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0097 a0004c0004t0002g0097	1	292	0.0034	-55	c.377 others(72): Show c.377-5489_377-5435delATGTGTCACTCACACCCACACACAGGAC ATGCGTCCAGACACCCACACACAGGAC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MELK_chr9_36567895_36682682	36606407	TGTGTGTA others(48): Show TGTGTGTATATATATACATATGTATAGGTGTGTATATAATATATACATAT GTATAG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02965.hp1 NA18906.hp1 HG02572.hp2 HG02965.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0204 a0001c0004t0001g0205 a0001c0004t0001g0206 a0001c0004t0001g0204 a0001c0004t0001g0205 a0001c0004t0001g0206	3	242	0.0124	-55	c.568 others(72): Show c.568-1127_568-1073delTATACATATGTATAGGTGTGTATATATA TACATATGTATAGGTGTGTATATAATA	MELK	ENSG00000165304.8	transcript	ENST00000298048.7	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
METRNL_chr17_83074609_83100122	83090404	CCGCCCCA others(48): Show CCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCCCGCCCCA CACACA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0285 a0001c0003t0002g0285	1	399	0.0025	-55	c.557 others(72): Show c.557-2761_557-2707delGCCCCACACACACACCCCCCGCCCCACA CACACACACCCCCCGCCCCACACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAM_chr7_141990879_142111747	142045221	ATAATATA others(48): Show ATAATATATATTATATATCATATAATATATGATATATAATATATATTATA TATACC	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0065 a0065	a0065c0149 a0065c0149	a0065c0149t0001 a0065c0149t0001	a0065c0149t0001g0044 a0065c0149t0001g0044	1	316	0.0032	-55	c.249 others(74): Show c.2499-2561_2499-2507delATATATATTATATATCATATAATATA TGATATATAATATATATTATATATACCTA	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MLPH_chr2_237482251_237560322	237543472	TGGGGGCA others(48): Show TGGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGG TGAGTG	T T	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0002 a0014c0020t0002	a0014c0020t0002g0173 a0014c0020t0002g0173	1	286	0.0035	-55	c.153 others(72): Show c.1539+818_1539+872delGCACGGTAGTGACTGGGGCGACAGTGGT GAGTGGGGGGACAGTGGTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544549	ACACTTTA others(48): Show ACACTTTAGTGTTGGGGGGGACATTGTTTATTGGGGGCATAGTGGTGTGT GGTTGT	A A	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19043.hp2 NA18957.hp2 NA19043.hp2	a0010 a0019 a0010 a0019	a0010c0012 a0019c0025 a0010c0012 a0019c0025	a0010c0012t0001 a0019c0025t0002 a0010c0012t0001 a0019c0025t0002	a0010c0012t0001g0273 a0019c0025t0002g0046 a0010c0012t0001g0273 a0019c0025t0002g0046	2	286	0.0070	-55	c.153 others(74): Show c.1539+1893_1539+1947delCTTTAGTGTTGGGGGGGACATTGTTT ATTGGGGGCATAGTGGTGTGTGGTTGTCA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237545062	GGCACTAT others(48): Show GGCACTATTGGTAGGGGGGACAATTATTGGGGGGGGGCACTAATTGTGAG GGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0103 a0010c0012t0001g0103	1	286	0.0035	-55	c.154 others(74): Show c.1540-1543_1540-1489delGCACTATTGGTAGGGGGGACAATTAT TGGGGGGGGGCACTAATTGTGAGGGGGGA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLYCD_chr16_83894115_83932031	83929799	ATTAATTT others(48): Show ATTAATTTTTTATGTAAAATTTTTCATCTTGGCCTTCAAATGAGGTGTTT GTTGTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	432	0.0023	-55	c.14 others(68): Show c.14311_*14365delTTAATTTTTTATGTAAAATTTTTCATCTTGGC CTTCAAATGAGGTGTTTGTTGTT	MLYCD	ENSG00000103150.7	transcript	ENST00000262430.6	protein_coding		2769		chr16	TogoVar
MPP7_chr10_28045993_28308064	28262220	TATATACA others(48): Show TATATACATATATATATATATATACATATATATATATATGTATATATATA TATATA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03490.hp1 HG01934.hp1 HG03490.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0002 a0001c0001t0002 a0003c0005t0002	a0001c0001t0002g0270 a0003c0005t0002g0245 a0001c0001t0002g0270 a0003c0005t0002g0245	2	300	0.0067	-55	c.-13 others(76): Show c.-131-23540_-131-23486delTATATATATATATATACATATATA TATATATGTATATATATATATATATGTATAT	MPP7	ENSG00000150054.19	transcript	ENST00000683449.1	protein_coding	1/16			chr10	TogoVar
MPP7_chr10_28045993_28308064	28262222	TATACATA others(48): Show TATACATATATATATATATATACATATATATATATATGTATATATATATA TATATA	T T	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18967.hp2 NA18982.hp1 others(1): Show NA18943.hp1 NA18967.hp2 NA18982.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0024 a0001c0003t0003 a0001c0001t0002 a0001c0001t0024 a0001c0003t0003	a0001c0001t0002g0214 a0001c0001t0002g0276 a0001c0001t0024g0217 others(1): Show a0001c0001t0002g0214 a0001c0001t0002g0276 a0001c0001t0024g0217 a0001c0003t0003g0232	4	300	0.0133	-55	c.-13 others(76): Show c.-131-23542_-131-23488delTATATATATATATATATACATATA TATATATATGTATATATATATATATATGTAT	MPP7	ENSG00000150054.19	transcript	ENST00000683449.1	protein_coding	1/16			chr10	TogoVar
MPP7_chr10_28045993_28308064	28262223	ATACATAT others(48): Show ATACATATATATATATATATACATATATATATATATGTATATATATATAT ATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0252 a0002c0004t0001g0252	1	300	0.0033	-55	c.-13 others(76): Show c.-131-23543_-131-23489delATATATATATATATATATACATAT ATATATATATGTATATATATATATATATGTA	MPP7	ENSG00000150054.19	transcript	ENST00000683449.1	protein_coding	1/16			chr10	TogoVar
MROH1_chr8_144143016_144266926	144179920	CCCTCTCA others(48): Show CCCTCTCACCAGGGCTCTGCTGCTCCTGCGTGTGGGGTCTCCTCAGCAGC CCCTCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(99): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18950.hp1 NA18950.hp2 NA18959.hp1 NA18959.hp2 NA19009.hp1 NA19009.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19240.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0006 a0008 a0012 a0014 a0015 a0016 a0017	a0001c0001 a0001c0002 a0001c0016 others(11): Show a0001c0001 a0001c0002 a0001c0016 a0001c0025 a0002c0006 a0003c0003 a0005c0026 a0006c0010 a0008c0017 a0012c0021 a0014c0018 a0015c0023 a0016c0024 a0017c0022	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0016t0001 a0001c0025t0001 a0002c0006t0001 a0003c0003t0001 a0005c0026t0001 a0006c0010t0001 a0008c0017t0001 a0012c0021t0001 a0014c0018t0001 a0015c0023t0001 a0016c0024t0001 a0017c0022t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(99): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0091 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0110 a0001c0002t0001g0113 a0001c0002t0001g0122 a0001c0002t0001g0126 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0002g0060 a0001c0002t0003g0072 a0001c0016t0001g0112 a0001c0025t0001g0105 a0002c0006t0001g0066 a0002c0006t0001g0123 a0003c0003t0001g0008 a0003c0003t0001g0052 a0003c0003t0001g0069 a0003c0003t0001g0075 a0003c0003t0001g0078 a0003c0003t0001g0090 a0003c0003t0001g0092 a0003c0003t0001g0114 a0003c0003t0001g0119 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0132 a0005c0026t0001g0107 a0006c0010t0001g0130 a0008c0017t0001g0083 a0012c0021t0001g0121 a0014c0018t0001g0111 a0015c0023t0001g0093 a0016c0024t0001g0139 a0017c0022t0001g0089	102	140	0.7286	-55	c.301 others(70): Show c.301-202_301-148delCCTCTCACCAGGGCTCTGCTGCTCCTGCGT GTGGGGTCTCCTCAGCAGCCCCTCA	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	5/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144256355	ACCTTGGC others(48): Show ACCTTGGCCAGGACACACCAGGGGGACAGCCTCACTTCAGCCCCTCCCCC TGCCCC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG02922.hp2 others(2): Show HG02145.hp2 HG02572.hp2 HG02922.hp2 HG03471.hp2 NA19240.hp2	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0001 a0003c0003 a0013c0028 a0001c0001 a0003c0003 a0013c0028	a0001c0001t0001 a0003c0003t0001 a0013c0028t0001 a0001c0001t0001 a0003c0003t0001 a0013c0028t0001	a0001c0001t0001g0007 a0001c0001t0001g0117 a0003c0003t0001g0119 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0117 a0003c0003t0001g0119 a0003c0003t0001g0132 a0013c0028t0001g0011	5	140	0.0357	-55	c.379 others(72): Show c.3791+681_3791+735delTCACTTCAGCCCCTCCCCCTGCCCCCCT TGGCCAGGACACACCAGGGGGACAGCC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	35/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL15_chr8_54130241_54153514	54148151	GCTACCCA others(48): Show GCTACCCAATGCCAAGATGGTAAACCCTCAACTCGAAGAGTAAGATCAGG ACGTAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0023 a0002c0005t0005g0023	1	390	0.0026	-55	c.43 others(64): Show c.433_*487delCTACCCAATGCCAAGATGGTAAACCCTCAACTCGAA GAGTAAGATCAGGACGTAT	MRPL15	ENSG00000137547.9	transcript	ENST00000260102.9	protein_coding	5/5	433		chr8	TogoVar
MRPL41_chr9_137546879_137557555	137551676	CGAGCCCC others(48): Show CGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCC GCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02559.hp1 NA18522.hp2 others(1): Show HG02145.hp2 HG02559.hp1 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	408	0.0098	-55	c.-31 others(64): Show c.-310_-256delGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCG CCCCGCGAGCCCCGCCCCG	MRPL41	ENSG00000182154.8	transcript	ENST00000371443.6	protein_coding		202		chr9	TogoVar
MRPL45_chr17_38292168_38328211	38313306	AAAAAAAT others(48): Show AAAAAAATATATATATATATATATATACATATATATATATACGTATATAT ATATAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0216 a0002c0002t0001g0216	1	287	0.0035	-55	c.462 others(72): Show c.462-5379_462-5325delAAAAATATATATATATATATATATACAT ATATATATATACGTATATATATATATA	MRPL45	ENSG00000278845.5	transcript	ENST00000613675.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSMO1_chr4_165322669_165348164	165332008	ACTGTCTC others(48): Show ACTGTCTCCTACCCCGCCGAGCTGTCTTCCATAACACTCTCCCCTACCCC GCCACG	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0066 a0001c0001t0011g0066	1	462	0.0022	-55	c.-31 others(72): Show c.-31-1325_-31-1271delCCTACCCCGCCGAGCTGTCTTCCATAAC ACTCTCCCCTACCCCGCCACGCTGTCT	MSMO1	ENSG00000052802.13	transcript	ENST00000261507.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTERF4_chr2_241090571_241107287	241091412	CCCTCCCC others(48): Show CCCTCCCCGTGTGCACTGCCATATGGTAGAATCCTGGTGCTCTAAGAACG CGGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	398	0.0025	-55	c.45 others(66): Show c.4531_*4585delACCCCGCGTTCTTAGAGCACCAGGATTCTACCAT ATGGCAGTGCACACGGGGAGG	MTERF4	ENSG00000122085.17	transcript	ENST00000391980.7	protein_coding		4158		chr2	TogoVar
MTUS1_chr8_17638802_17806094	17804162	ATAAACTA others(48): Show ATAAACTAAGCATAAGCCACCAGGCATGGTGGCTTGCACCTTTAATCCCA GCTATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0062 a0001c0004t0002g0062	1	330	0.0030	-55	c.-33 others(66): Show c.-3311_-3257delAATAGCTGGGATTAAAGGTGCAAGCCACCATGCC TGGTGGCTTATGCTTAGTTTA	MTUS1	ENSG00000129422.15	transcript	ENST00000693296.1	protein_coding		3069		chr8	TogoVar
MUC6_chr11_1007823_1041718	1029693	CCCCCTCC others(48): Show CCCCCTCCAGCCTGGCTCCAGGGAGACGCCCCCTCCAGCCTGGCTCCAGG GAGACG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0166 a0003c0002t0001g0166	1	406	0.0025	-55	c.101 others(71): Show c.1016-133_1016-79delCGTCTCCCTGGAGCCAGGCTGGAGGGGGC GTCTCCCTGGAGCCAGGCTGGAGGGG	MUC6	ENSG00000184956.16	transcript	ENST00000421673.7	protein_coding	8/32			chr11	TogoVar
MYO5B_chr18_49817789_50200147	50109655	TGACGTTG others(48): Show TGACGTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGG CATGAG	T T	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0030 a0030	a0030c0060 a0030c0060	a0030c0060t0003 a0030c0060t0003	a0030c0060t0003g0065 a0030c0060t0003g0065	1	238	0.0042	-55	c.28- others(72): Show c.28-54332_28-54278delCTCATGCCTGTAATCCCAGCACTTTGGG AGGCTGAGGCAGGTGGATCACAACGTC	MYO5B	ENSG00000167306.21	transcript	ENST00000285039.12	protein_coding	1/39			chr18	TogoVar
MYOM2_chr8_2040046_2150456	2100066	TTCTTTCC others(48): Show TTCTTTCCTTCCTTTCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCTTT CCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0309 a0001c0003t0001g0309	1	403	0.0025	-55	c.244 others(72): Show c.2441-808_2441-754delCTTTCCTTCCTTTCTTCTTTCCTTCCTT CCTTCCTTCCTTCTTTCTTTCCTTCCT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	19/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NAA15_chr4_139296505_139396384	139314986	TTCAGTTC others(48): Show TTCAGTTCAGTTCAGTTTAGTTTAGGTTAGGTTAGGTTAGGTTAGGTTAG GTTAGG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01496.hp1 HG02486.hp2 others(15): Show HG01192.hp1 HG01496.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02647.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0004 a0001c0002t0006 a0001c0002t0021 others(3): Show a0001c0001t0004 a0001c0002t0006 a0001c0002t0021 a0001c0002t0022 a0001c0002t0028 a0001c0004t0006	a0001c0001t0004g0081 a0001c0002t0006g0025 a0001c0002t0006g0027 others(15): Show a0001c0001t0004g0081 a0001c0002t0006g0025 a0001c0002t0006g0027 a0001c0002t0006g0029 a0001c0002t0006g0030 a0001c0002t0006g0031 a0001c0002t0006g0033 a0001c0002t0006g0034 a0001c0002t0006g0208 a0001c0002t0006g0310 a0001c0002t0006g0311 a0001c0002t0006g0312 a0001c0002t0006g0313 a0001c0002t0006g0314 a0001c0002t0021g0032 a0001c0002t0022g0309 a0001c0002t0028g0024 a0001c0004t0006g0026	18	334	0.0539	-55	c.54+ others(72): Show c.54+13157_54+13211delCAGTTCAGTTCAGTTTAGTTTAGGTTAG GTTAGGTTAGGTTAGGTTAGGTTAGGT	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NALF2_chrX_69499326_69537508	69500443	GCAGTCGG others(48): Show GCAGTCGGGATTAGAGGAGTCTGTCAGTGGGCCACCAGACCTCTCAGCCA CTGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0015 a0015	a0015c0009 a0015c0009	a0015c0009t0031 a0015c0009t0031	a0015c0009t0031g0044 a0015c0009t0031g0044	1	322	0.0031	-55	c.-48 others(66): Show c.-4839_-4785delCAGTCGGGATTAGAGGAGTCTGTCAGTGGGCCAC CAGACCTCTCAGCCACTGGGT	NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding		3882		chrX	TogoVar
NAT14_chr19_55480188_55492566	55490051	CCGAGGGG others(48): Show CCGAGGGGAGAGGGACTGCCCTGCCAACCCCCACCCAGCGTGCCCTCCTG CCCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02615.hp1 others(9): Show HG01109.hp1 HG01891.hp1 HG02615.hp1 HG02809.hp2 HG02818.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG06807.hp1 NA18522.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0001c0003t0012 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0012 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0003t0001g0002 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0003t0001g0002 a0001c0003t0012g0002 a0002c0002t0001g0005	12	420	0.0286	-55	c.30 others(66): Show c.3096_*3150delCGAGGGGAGAGGGACTGCCCTGCCAACCCCCACC CAGCGTGCCCTCCTGCCCCCA	NAT14	ENSG00000090971.5	transcript	ENST00000205194.5	protein_coding		2486		chr19	TogoVar
NCAPG2_chr7_158626169_158709804	158667928	CCTTACCT others(48): Show CCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTC CGCCTT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	378	0.0027	-55	c.148 others(74): Show c.1480-3233_1480-3179delAAGGCGGAGGGACCCAGTAGTGGGTA AGAGGGTGGAGGGCCAGAGGGTAGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668098	CCTCCTTA others(48): Show CCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGC CCTCCA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	378	0.0027	-55	c.147 others(74): Show c.1479+3361_1480-3349delTGGAGGGCCAGAGGGTAGGTAAGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCOA6_chr20_34709774_34830651	34817161	ATGTATAT others(48): Show ATGTATATAAATGGGTACTACGGAACTGATATTCAACAGATTCAATATCA GTAAAG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	290	0.0035	-55	c.-16 others(74): Show c.-164+8256_-164+8310delCTTTACTGATATTGAATCTGTTGAAT ATCAGTTCCGTAGTACCCATTTATATACA	NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	1/14			chr20	TogoVar
NDUFA10_chr2_239952372_240030342	240030287	ATGAGGAT others(48): Show ATGAGGATGATGGCCAGGTTCTCCACCAGGACAAAGAGGTAGGTGAGCAG GAAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0200 a0001c0002t0002g0200	1	412	0.0024	-55	c.-50 others(66): Show c.-5041_-4987delCTCTTCCTGCTCACCTACCTCTTTGTCCTGGTGG AGAACCTGGCCATCATCCTCA	NDUFA10	ENSG00000130414.13	transcript	ENST00000252711.7	protein_coding		4946		chr2	TogoVar

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