Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MARK1_chr1_220523136_220669461	220528474	CCGGAGAG others(10): Show CCGGAGAGCCTAGCGGGG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18945.hp1 NA19063.hp2 NA18945.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0076 a0001c0001t0006g0077 a0001c0001t0006g0076 a0001c0001t0006g0077	2	298	0.0067	-17	c.-34 others(26): Show c.-347_-331delGGAGAGCCTAGCGGGGC		MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	1/18				331	INFO_REALIGN_3_PRIME	chr1	TogoVar
MARK2_chr11_63834110_63916020	63856768	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	232	0.0043	-17	c.54+ others(34): Show c.54+17229_54+17245delTTTTTTTTTTTTTTTTT		MARK2	ENSG00000072518.23	transcript	ENST00000402010.8	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
MARK3_chr14_103380415_103508831	103385264	CCCCCGCG others(10): Show CCCCCGCGGCGAGGTCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	348	0.0029	-17	c.-76 others(26): Show c.-765_-749delCCCCGCGGCGAGGTCTG		MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding					150		chr14	TogoVar
MARS1_chr12_57483068_57521652	57493793	ATATTATA others(10): Show ATATTATATTATATAATG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA21309.hp2 HG01256.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0217 a0001c0001t0001g0218	2	288	0.0069	-17	c.770 others(34): Show c.770+3153_770+3169delTATATTATATAATGTAT		MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr12	TogoVar
MAS1_chr6_159885988_159922447	159911887	TCCCTGGC others(10): Show TCCCTGGCTAAGGTGATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00642.hp1 others(35): Show HG00140.hp1 HG00639.hp1 HG00642.hp1 HG01109.hp1 HG01255.hp1 HG01256.hp2 HG01496.hp1 HG01516.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03516.hp2 HG03834.hp1 NA18522.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 others(15): Show a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0026 a0001c0001t0027 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108	a0001c0001t0010g0012 a0001c0001t0010g0028 a0001c0001t0010g0150 others(26): Show a0001c0001t0010g0012 a0001c0001t0010g0028 a0001c0001t0010g0150 a0001c0001t0012g0023 a0001c0001t0012g0049 a0001c0001t0012g0071 a0001c0001t0012g0151 a0001c0001t0015g0016 a0001c0001t0015g0097 a0001c0001t0015g0103 a0001c0001t0026g0028 a0001c0001t0026g0052 a0001c0001t0026g0149 a0001c0001t0027g0022 a0001c0001t0027g0099 a0001c0001t0027g0100 a0001c0001t0039g0048 a0001c0001t0041g0022 a0001c0001t0042g0022 a0001c0001t0099g0102 a0001c0001t0100g0056 a0001c0001t0101g0142 a0001c0001t0102g0101 a0001c0001t0103g0147 a0001c0001t0104g0088 a0001c0001t0105g0104 a0001c0001t0106g0058 a0001c0001t0107g0012 a0001c0001t0108g0016	38	348	0.1092	-17	c.39 others(28): Show c.3966_*3982delGTGATACCCTGGCTAAG		MAS1	ENSG00000130368.7	transcript	ENST00000674077.2	protein_coding	3/3				3966	INFO_REALIGN_3_PRIME	chr6	TogoVar
MASP2_chr1_11021523_11052239	11036521	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03491.hp2 NA18522.hp2 others(2): Show HG03098.hp1 HG03491.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0002 a0002c0006t0002 a0002c0002t0002 a0002c0006t0002	a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 others(2): Show a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0006t0002g0272	5	346	0.0145	-17	c.100 others(36): Show c.1008+1155_1008+1171delGTTTTTTTTTTTTTTTT		MASP2	ENSG00000009724.18	transcript	ENST00000400897.8	protein_coding	7/10						chr1	TogoVar
MAST2_chr1_45798612_46041122	45888663	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG00642.hp1 others(32): Show HG00438.hp1 HG00609.hp2 HG00642.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG02004.hp1 HG02027.hp1 HG02135.hp1 HG02965.hp2 HG03490.hp1 HG03492.hp1 HG03704.hp2 HG03834.hp2 HG04115.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18962.hp1 NA18966.hp2 NA18981.hp1 NA19009.hp2 NA19011.hp1 NA19062.hp1 NA19068.hp1 NA19077.hp1 NA19091.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0016	a0001c0001 a0002c0002 a0002c0007 others(3): Show a0001c0001 a0002c0002 a0002c0007 a0003c0003 a0011c0019 a0016c0034	a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 a0003c0003t0001 a0011c0019t0001 a0016c0034t0001	a0001c0001t0001g0056 a0002c0002t0001g0015 a0002c0002t0001g0017 others(32): Show a0001c0001t0001g0056 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0083 a0002c0007t0001g0073 a0003c0003t0001g0093 a0003c0003t0001g0117 a0011c0019t0001g0111 a0016c0034t0001g0066	35	288	0.1215	-17	c.500 others(34): Show c.500+6288_500+6304delTTTTTTTTTTTTTTTTT		MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST4_chr5_66591393_67174593	66597217	CCGTGTGT others(10): Show CCGTGTGTGTGTCTCAGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0017 a0017	a0017c0032 a0017c0032	a0017c0032t0006 a0017c0032t0006	a0017c0032t0006g0107 a0017c0032t0006g0107	1	108	0.0093	-17	c.363 others(32): Show c.363+200_363+216delCGTGTGTGTGTCTCAGT		MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	1/28						chr5	TogoVar
MAT2B_chr5_163500619_163524354	163517574	AGGGAACC others(10): Show AGGGAACCTTTCACTGGT	A A	frameshift_variant frameshift_variant	HIGH	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0048 a0003c0005t0001g0048	1	370	0.0027	-17	c.735 others(24): Show c.735_751delGGGAACCTTTCACTGGT	p.Lys others(5): Show p.Lys245fs	MAT2B	ENSG00000038274.18	transcript	ENST00000321757.11	protein_coding	6/7	803/2064	735/1005	245/334			chr5	TogoVar
MATR3_chr5_139288740_139336677	139311750	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01167.hp1 others(8): Show HG01069.hp2 HG01071.hp1 HG01167.hp1 HG01167.hp2 HG01243.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02809.hp2 HG02897.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0150 others(6): Show a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0150 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0117 a0001c0001t0004g0149 a0001c0001t0004g0151 a0001c0001t0004g0210	11	282	0.0390	-17	c.913 others(34): Show c.913-2906_913-2890delTTTTTTTTTTTTTTTTT		MATR3	ENSG00000015479.20	transcript	ENST00000394805.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
MAVS_chr20_3841834_3881118	3870634	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01993.hp2 HG02300.hp1 HG01993.hp2 HG02300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0052 a0002c0002t0052 a0001c0001t0052 a0002c0002t0052	a0001c0001t0052g0155 a0002c0002t0052g0067 a0001c0001t0052g0155 a0002c0002t0052g0067	2	420	0.0048	-17	c.45 others(28): Show c.4513_*4529delAAAAAAAAAAAAAAAAA		MAVS	ENSG00000088888.18	transcript	ENST00000428216.4	protein_coding	7/7				4513	INFO_REALIGN_3_PRIME	chr20	TogoVar
MAX_chr14_65070127_65107517	65089756	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG02027.hp2 others(5): Show HG00423.hp1 HG00621.hp1 HG02027.hp2 HG02080.hp1 NA18906.hp2 NA18947.hp1 NA18949.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0020 a0001c0001t0001g0047 a0001c0001t0001g0164 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0047 a0001c0001t0001g0164 a0001c0001t0002g0105	8	382	0.0209	-17	c.171 others(34): Show c.171+3935_171+3951delTTTTTTTTTTTTTTTTT		MAX	ENSG00000125952.21	transcript	ENST00000358664.9	protein_coding	3/4						chr14	TogoVar
MAZ_chr16_29801529_29816164	29815724	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	282	0.0036	-17	c.54 others(28): Show c.5494_*5510delAAAAAAAAAAAAAAAAA		MAZ	ENSG00000103495.15	transcript	ENST00000322945.11	protein_coding					4561		chr16	TogoVar
MB21D2_chr3_192791815_192922856	192828591	CATATATA others(10): Show CATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18747.hp2 HG02109.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0217 a0001c0001t0001g0118 a0001c0001t0001g0217	2	298	0.0067	-17	c.212 others(36): Show c.212-28958_212-28942delTATATATATATATATAT		MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1						chr3	TogoVar
MB21D2_chr3_192791815_192922856	192828593	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18973.hp1 HG03453.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0170 a0001c0002t0003g0017 a0001c0001t0001g0170 a0001c0002t0003g0017	2	298	0.0067	-17	c.212 others(36): Show c.212-28960_212-28944delTATATATATATATATAT		MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1						chr3	TogoVar
MBD2_chr18_54146606_54229669	54179574	AAATTAAT others(10): Show AAATTAATCACATAAACC	A A	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02735.hp1 HG01258.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0173 a0001c0001t0001g0188	2	300	0.0067	-17	c.840 others(34): Show c.840+9283_840+9299delGGTTTATGTGATTAATT		MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	3/6						chr18	TogoVar
MBD3L2_chr19_7044321_7056735	7048705	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	258	0.0039	-17	c.-66 others(26): Show c.-668_-652delTTTTTTTTTTTTTTTTT		MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding					615		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7062335	TATATTAT others(10): Show TATATTATAAATAATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	288	0.0035	-17	c.-37 others(28): Show c.-3747_-3731delTATATTATTTATAATAT		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					3660		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7062523	TTATAATA others(10): Show TTATAATATAATTAAATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	-17	c.-39 others(28): Show c.-3935_-3919delTATTTAATTATATTATA		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					3848		chr19	TogoVar
MBD3_chr19_1568596_1597865	1576801	TCAGGAAG others(10): Show TCAGGAAGACGTGGTCCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0284 a0001c0001t0037g0284	1	400	0.0025	-17	c.13 others(28): Show c.1346_*1362delGGGACCACGTCTTCCTG		MBD3	ENSG00000071655.18	transcript	ENST00000434436.8	protein_coding	7/7				1522		chr19	TogoVar
MBD5_chr2_148016091_148521971	148294196	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp2 HG03486.hp1 others(1): Show HG02622.hp2 HG02965.hp2 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0006 a0001c0006t0002 a0001c0001t0002 a0001c0001t0006 a0001c0006t0002	a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0006g0013 others(1): Show a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0006g0013 a0001c0006t0002g0002	4	188	0.0213	-17	c.-67 others(38): Show c.-679-47988_-679-47972delTTTTTTTTTTTTTTTTT		MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148308487	CTTTCTTT others(10): Show CTTTCTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18962.hp1 NA19006.hp2 HG01123.hp1 NA18962.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0028 a0001c0001t0001g0147 a0001c0001t0009g0027 a0001c0001t0001g0028 a0001c0001t0001g0147 a0001c0001t0009g0027	3	188	0.0160	-17	c.-67 others(38): Show c.-679-33723_-679-33707delCTTTTTTTTTTTTTTTT		MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148389248	AAACATAT others(10): Show AAACATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03209.hp1 HG03471.hp2 others(2): Show HG00642.hp2 HG03209.hp1 HG03471.hp2 HG03516.hp1 NA18977.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0011 a0001c0001 a0001c0003 a0003c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0003t0001 a0003c0011t0002	a0001c0001t0001g0064 a0001c0001t0005g0072 a0001c0001t0013g0081 others(2): Show a0001c0001t0001g0064 a0001c0001t0005g0072 a0001c0001t0013g0081 a0001c0003t0001g0075 a0003c0011t0002g0004	5	188	0.0266	-17	c.-55 others(38): Show c.-557+46914_-557+46930delACATATATATATATATA		MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
MBLAC1_chr7_100121967_100133495	100131228	CTTTCCTT others(10): Show CTTTCCTTTTTCTTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	-17	c.30 others(28): Show c.3033_*3049delTTTCCTTTTTCTTTTCT		MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding					2734		chr7	TogoVar
MBLAC1_chr7_100121967_100133495	100131788	GTTTCTTT others(10): Show GTTTCTTTGTTTCTTTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	-17	c.35 others(28): Show c.3593_*3609delTTTCTTTGTTTCTTTCT		MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding					3294		chr7	TogoVar
MBLAC1_chr7_100121967_100133495	100131808	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	-17	c.36 others(28): Show c.3613_*3629delTTTCTTTCTTTCTTTCT		MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding					3314		chr7	TogoVar
MBNL1_chr3_152263929_152470780	152442638	TAGTCTAA others(10): Show TAGTCTAAAGTGTCCTTG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02559.hp2 others(3): Show HG02145.hp1 HG02451.hp2 HG02559.hp2 HG02922.hp2 HG03195.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0140 others(3): Show a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0164	6	338	0.0178	-17	c.550 others(34): Show c.550-2640_550-2624delCTAAAGTGTCCTTGAGT		MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL2_chr13_97217333_97399120	97341082	GTTTACGT others(10): Show GTTTACGTTGATAGTCTC	G G	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	254	0.0039	-17	c.340 others(34): Show c.340-1932_340-1916delTTACGTTGATAGTCTCT		MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97368593	TAAATATT others(10): Show TAAATATTTGACCATGTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp2 NA20300.hp2 HG02055.hp1 HG02922.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0181 a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0181	3	254	0.0118	-17	c.104 others(36): Show c.1048+3423_1048+3439delAAATATTTGACCATGTG		MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	8/8						chr13	TogoVar
MBNL3_chrX_132364320_132494038	132408092	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18977.hp1 HG03486.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0004 a0001c0001t0016g0050 a0001c0001t0001g0004 a0001c0001t0016g0050	2	191	0.0105	-17	c.178 others(34): Show c.178-1717_178-1701delAAAAAAAAAAAAAAAAA		MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	2/8						chrX	TogoVar
MBOAT7_chr19_54168415_54194580	54168779	CTTTCTTT others(10): Show CTTTCTTTTCTTTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02129.hp1 NA18963.hp1 others(1): Show HG00673.hp2 HG02129.hp1 NA18963.hp1 NA19066.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0002 a0002c0004 a0014c0025 a0001c0002 a0002c0004 a0014c0025	a0001c0002t0001 a0002c0004t0001 a0014c0025t0001 a0001c0002t0001 a0002c0004t0001 a0014c0025t0001	a0001c0002t0001g0065 a0001c0002t0001g0156 a0002c0004t0001g0060 others(1): Show a0001c0002t0001g0065 a0001c0002t0001g0156 a0002c0004t0001g0060 a0014c0025t0001g0243	4	373	0.0107	-17	c.52 others(28): Show c.5248_*5264delAAAGAAAAGAAAAGAAA		MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding					4635		chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54177900	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	373	0.0027	-17	c.103 others(34): Show c.1031+848_1031+864delAAAAAAAAAAAAAAAAA		MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	7/7						chr19	TogoVar
MBTD1_chr17_51172425_51265049	51177036	CAAGACTC others(10): Show CAAGACTCCATCTCAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(156): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19002.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19054.hp2 NA19057.hp2 NA19060.hp2 NA19070.hp1 NA19074.hp1 NA19076.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 others(93): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0064 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0080 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0131 a0001c0001t0132 a0001c0001t0134 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0149 a0001c0001t0154 a0001c0001t0156 a0001c0001t0158	a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0024 others(156): Show a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0007g0058 a0001c0001t0007g0234 a0001c0001t0007g0238 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0009g0271 a0001c0001t0009g0289 a0001c0001t0009g0296 a0001c0001t0009g0310 a0001c0001t0013g0334 a0001c0001t0014g0202 a0001c0001t0014g0209 a0001c0001t0014g0210 a0001c0001t0014g0213 a0001c0001t0015g0198 a0001c0001t0015g0233 a0001c0001t0015g0245 a0001c0001t0015g0247 a0001c0001t0016g0051 a0001c0001t0016g0203 a0001c0001t0016g0222 a0001c0001t0016g0235 a0001c0001t0017g0236 a0001c0001t0017g0269 a0001c0001t0017g0270 a0001c0001t0017g0336 a0001c0001t0020g0049 a0001c0001t0020g0050 a0001c0001t0020g0263 a0001c0001t0020g0299 a0001c0001t0021g0276 a0001c0001t0021g0306 a0001c0001t0021g0308 a0001c0001t0021g0324 a0001c0001t0032g0265 a0001c0001t0032g0274 a0001c0001t0032g0318 a0001c0001t0033g0261 a0001c0001t0033g0282 a0001c0001t0033g0284 a0001c0001t0034g0286 a0001c0001t0034g0305 a0001c0001t0035g0288 a0001c0001t0035g0322 a0001c0001t0035g0323 a0001c0001t0036g0208 a0001c0001t0036g0211 a0001c0001t0036g0256 a0001c0001t0037g0290 a0001c0001t0037g0292 a0001c0001t0037g0301 a0001c0001t0042g0217 a0001c0001t0042g0220 a0001c0001t0043g0048 a0001c0001t0043g0257 a0001c0001t0044g0035 a0001c0001t0044g0040 a0001c0001t0045g0036 a0001c0001t0045g0042 a0001c0001t0046g0298 a0001c0001t0046g0319 a0001c0001t0047g0227 a0001c0001t0047g0251 a0001c0001t0049g0240 a0001c0001t0049g0249 a0001c0001t0050g0255 a0001c0001t0050g0259 a0001c0001t0051g0321 a0001c0001t0052g0268 a0001c0001t0052g0328 a0001c0001t0053g0275 a0001c0001t0053g0317 a0001c0001t0054g0280 a0001c0001t0054g0304 a0001c0001t0055g0052 a0001c0001t0055g0199 a0001c0001t0056g0248 a0001c0001t0057g0033 a0001c0001t0057g0039 a0001c0001t0058g0022 a0001c0001t0058g0023 a0001c0001t0059g0020 a0001c0001t0059g0029 a0001c0001t0064g0337 a0001c0001t0064g0338 a0001c0001t0067g0018 a0001c0001t0068g0326 a0001c0001t0069g0277 a0001c0001t0070g0315 a0001c0001t0071g0197 a0001c0001t0072g0267 a0001c0001t0073g0327 a0001c0001t0075g0266 a0001c0001t0076g0027 a0001c0001t0077g0041 a0001c0001t0079g0314 a0001c0001t0080g0283 a0001c0001t0084g0312 a0001c0001t0085g0300 a0001c0001t0086g0294 a0001c0001t0088g0228 a0001c0001t0089g0241 a0001c0001t0090g0068 a0001c0001t0091g0262 a0001c0001t0092g0212 a0001c0001t0093g0239 a0001c0001t0094g0242 a0001c0001t0095g0279 a0001c0001t0097g0254 a0001c0001t0098g0316 a0001c0001t0099g0313 a0001c0001t0100g0291 a0001c0001t0102g0230 a0001c0001t0103g0200 a0001c0001t0104g0302 a0001c0001t0105g0232 a0001c0001t0106g0278 a0001c0001t0108g0258 a0001c0001t0109g0218 a0001c0001t0110g0253 a0001c0001t0111g0207 a0001c0001t0112g0287 a0001c0001t0113g0205 a0001c0001t0116g0221 a0001c0001t0117g0225 a0001c0001t0118g0320 a0001c0001t0119g0272 a0001c0001t0120g0293 a0001c0001t0121g0195 a0001c0001t0122g0311 a0001c0001t0123g0216 a0001c0001t0124g0252 a0001c0001t0125g0201 a0001c0001t0126g0229 a0001c0001t0127g0215 a0001c0001t0128g0053 a0001c0001t0129g0250 a0001c0001t0131g0206 a0001c0001t0132g0231 a0001c0001t0134g0285 a0001c0001t0136g0281 a0001c0001t0137g0307 a0001c0001t0138g0054 a0001c0001t0149g0076 a0001c0001t0154g0325 a0001c0001t0156g0204 a0001c0001t0158g0260	159	340	0.4677	-17	c.35 others(28): Show c.3523_*3539delTTTTGAGATGGAGTCTT		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding					388		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179483	TTTATATA others(10): Show TTTATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0086 a0001c0001t0078g0086	1	340	0.0029	-17	c.10 others(28): Show c.1076_*1092delTATATATATATATATAA		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17				1076		chr17	TogoVar
MCCC1_chr3_183010218_183104496	183102758	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 NA19010.hp1 HG01070.hp1 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0093 a0002c0002t0001g0079 a0001c0001t0001g0093 a0002c0002t0001g0079	2	344	0.0058	-17	c.-33 others(28): Show c.-3335_-3319delAAAAAAAAAAAAAAAAA		MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding					3263		chr3	TogoVar
MCC_chr5_113017106_113493453	113036012	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG00733.hp2 others(67): Show HG00408.hp1 HG00621.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01258.hp1 HG01258.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02683.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03209.hp2 HG03486.hp2 HG03654.hp1 HG03654.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 NA18522.hp2 NA18612.hp2 NA18942.hp2 NA18945.hp1 NA18955.hp2 NA18970.hp2 NA18972.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19010.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19082.hp1 NA19082.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0010	a0001c0003 a0001c0004 a0001c0007 others(32): Show a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0017 a0001c0018 a0001c0022 a0001c0024 a0001c0026 a0001c0027 a0001c0041 a0001c0042 a0001c0043 a0001c0051 a0001c0052 a0002c0001 a0002c0002 a0002c0013 a0002c0029 a0002c0056 a0003c0005 a0003c0006 a0003c0014 a0003c0020 a0003c0031 a0003c0036 a0003c0037 a0003c0039 a0004c0053 a0004c0054 a0006c0048 a0007c0049 a0010c0059	a0001c0003t0001 a0001c0003t0009 a0001c0003t0012 others(44): Show a0001c0003t0001 a0001c0003t0009 a0001c0003t0012 a0001c0003t0019 a0001c0004t0003 a0001c0004t0035 a0001c0007t0020 a0001c0007t0022 a0001c0008t0003 a0001c0008t0044 a0001c0010t0018 a0001c0011t0001 a0001c0011t0004 a0001c0017t0003 a0001c0018t0007 a0001c0022t0001 a0001c0024t0009 a0001c0026t0003 a0001c0027t0001 a0001c0041t0045 a0001c0042t0001 a0001c0043t0021 a0001c0051t0009 a0001c0052t0004 a0002c0001t0003 a0002c0001t0033 a0002c0001t0037 a0002c0002t0001 a0002c0013t0003 a0002c0029t0001 a0002c0056t0003 a0003c0005t0001 a0003c0005t0012 a0003c0005t0019 a0003c0006t0001 a0003c0014t0018 a0003c0020t0003 a0003c0020t0020 a0003c0031t0021 a0003c0036t0007 a0003c0037t0032 a0003c0039t0004 a0004c0053t0001 a0004c0054t0001 a0006c0048t0001 a0007c0049t0001 a0010c0059t0001	a0001c0003t0001g0083 a0001c0003t0001g0095 a0001c0003t0001g0099 others(67): Show a0001c0003t0001g0083 a0001c0003t0001g0095 a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0009g0075 a0001c0003t0012g0097 a0001c0003t0019g0077 a0001c0004t0003g0093 a0001c0004t0035g0084 a0001c0007t0020g0103 a0001c0007t0022g0108 a0001c0008t0003g0065 a0001c0008t0044g0046 a0001c0010t0018g0049 a0001c0011t0001g0039 a0001c0011t0004g0048 a0001c0011t0004g0051 a0001c0011t0004g0054 a0001c0017t0003g0044 a0001c0018t0007g0085 a0001c0018t0007g0104 a0001c0018t0007g0105 a0001c0022t0001g0032 a0001c0022t0001g0064 a0001c0024t0009g0045 a0001c0024t0009g0056 a0001c0026t0003g0082 a0001c0027t0001g0071 a0001c0027t0001g0089 a0001c0041t0045g0067 a0001c0042t0001g0038 a0001c0043t0021g0043 a0001c0051t0009g0109 a0001c0052t0004g0107 a0002c0001t0003g0126 a0002c0001t0003g0136 a0002c0001t0003g0137 a0002c0001t0033g0142 a0002c0001t0037g0153 a0002c0002t0001g0120 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0138 a0002c0002t0001g0143 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0156 a0002c0013t0003g0141 a0002c0029t0001g0131 a0002c0029t0001g0132 a0002c0056t0003g0135 a0003c0005t0001g0019 a0003c0005t0001g0020 a0003c0005t0001g0021 a0003c0005t0012g0009 a0003c0005t0019g0027 a0003c0006t0001g0011 a0003c0014t0018g0028 a0003c0020t0003g0022 a0003c0020t0020g0004 a0003c0031t0021g0003 a0003c0036t0007g0007 a0003c0037t0032g0025 a0003c0039t0004g0029 a0004c0053t0001g0114 a0004c0054t0001g0115 a0006c0048t0001g0094 a0007c0049t0001g0080 a0010c0059t0001g0160	70	160	0.4375	-17	c.275 others(36): Show c.2757-6973_2757-6957delAAAAAAAAAAAAAAAAA		MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	17/18						chr5	TogoVar
MCC_chr5_113017106_113493453	113145789	CACACACA others(10): Show CACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0003 a0002c0013t0003	a0002c0013t0003g0141 a0002c0013t0003g0141	1	160	0.0063	-17	c.742 others(34): Show c.742-2446_742-2430delTGTGTGTGTGTGTGTGT		MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	4/18						chr5	TogoVar
MCC_chr5_113017106_113493453	113145791	CACACACA others(10): Show CACACACACACACACAAA	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp2 HG01981.hp1 HG01981.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0019 a0001c0004t0004 a0001c0003t0019 a0001c0004t0004	a0001c0003t0019g0077 a0001c0004t0004g0086 a0001c0003t0019g0077 a0001c0004t0004g0086	2	160	0.0125	-17	c.742 others(34): Show c.742-2448_742-2432delTTTGTGTGTGTGTGTGT		MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	4/18						chr5	TogoVar
MCC_chr5_113017106_113493453	113299292	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA18612.hp1 NA18947.hp1 HG01071.hp2 NA18612.hp1 NA18947.hp1	a0002 a0002	a0002c0001 a0002c0002 a0002c0057 a0002c0001 a0002c0002 a0002c0057	a0002c0001t0002 a0002c0002t0001 a0002c0057t0029 a0002c0001t0002 a0002c0002t0001 a0002c0057t0029	a0002c0001t0002g0119 a0002c0002t0001g0138 a0002c0057t0029g0118 a0002c0001t0002g0119 a0002c0002t0001g0138 a0002c0057t0029g0118	3	160	0.0188	-17	c.627 others(36): Show c.627+41210_627+41226delTTTTTTTTTTTTTTTTT		MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18						chr5	TogoVar
MCF2L2_chr3_183173041_183433619	183216568	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0024 a0024	a0024c0030 a0024c0030	a0024c0030t0004 a0024c0030t0004	a0024c0030t0004g0165 a0024c0030t0004g0165	1	176	0.0057	-17	c.237 others(34): Show c.2371-491_2371-475delAAAAATATATATATATA		MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	21/29						chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183216570	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0004 a0015c0015t0004	a0015c0015t0004g0125 a0015c0015t0004g0125	1	176	0.0057	-17	c.237 others(34): Show c.2371-493_2371-477delAAAAAAATATATATATA		MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	21/29						chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183216572	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0118 a0005c0006t0003g0118	1	176	0.0057	-17	c.237 others(34): Show c.2371-495_2371-479delAAAAAAAAATATATATA		MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	21/29						chr3	TogoVar
MCF2L_chr13_112964214_113104742	113034653	GCCCTGGT others(10): Show GCCCTGGTCTCACCCTCA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0009 a0001c0004t0003g0009	1	116	0.0086	-17	c.278 others(34): Show c.278+9927_278+9943delTCACCCTGGTCTCACCC		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113050682	TGGCTGGG others(10): Show TGGCTGGGGGAGCGGGGA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0106 a0001c0003t0032g0106	1	116	0.0086	-17	c.369 others(34): Show c.369+5325_369+5341delTGGGGGAGCGGGGAGGC		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	4/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113061691	CCCCTCCC others(10): Show CCCCTCCCCTCCCCCTTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00544.hp2 others(37): Show HG00323.hp1 HG00544.hp1 HG00544.hp2 HG01070.hp1 HG01071.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01993.hp1 HG02129.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02886.hp2 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 NA18522.hp1 NA18522.hp2 NA18950.hp1 NA18950.hp2 NA19005.hp1 NA19240.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0015 a0001c0017 a0001c0018 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0028 a0001c0002t0001 a0001c0002t0027 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0006t0002 a0001c0006t0009 a0001c0015t0001 a0001c0017t0001 a0001c0018t0004 a0004c0013t0005	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0030 others(37): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0002g0008 a0001c0001t0003g0099 a0001c0001t0005g0062 a0001c0001t0006g0010 a0001c0001t0006g0027 a0001c0001t0006g0056 a0001c0001t0006g0108 a0001c0001t0007g0017 a0001c0001t0012g0055 a0001c0001t0018g0077 a0001c0001t0019g0107 a0001c0001t0022g0104 a0001c0001t0028g0098 a0001c0002t0001g0069 a0001c0002t0027g0065 a0001c0003t0001g0020 a0001c0004t0001g0025 a0001c0004t0001g0102 a0001c0004t0003g0009 a0001c0004t0004g0084 a0001c0004t0004g0097 a0001c0004t0005g0011 a0001c0006t0002g0029 a0001c0006t0009g0028 a0001c0015t0001g0067 a0001c0017t0001g0013 a0001c0018t0004g0085 a0004c0013t0005g0012	40	116	0.3448	-17	c.489 others(34): Show c.489+1009_489+1025delCCTTGCCCTCCCCTCCC		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	5/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MCM2_chr3_127593411_127627436	127624326	GAGTCTTG others(10): Show GAGTCTTGCTCTGTCGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	426	0.0024	-17	c.25 others(28): Show c.2554_*2570delAGTCTTGCTCTGTCGCC		MCM2	ENSG00000073111.14	transcript	ENST00000265056.12	protein_coding					1891		chr3	TogoVar
MCM6_chr2_135834626_135881443	135836007	TATATATA others(10): Show TATATATATGTATACATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	394	0.0025	-17	c.48 others(28): Show c.4811_*4827delTATGTATACATATATAT		MCM6	ENSG00000076003.5	transcript	ENST00000264156.3	protein_coding					3618		chr2	TogoVar
MCM9_chr6_118808455_118940159	118824035	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	348	0.0029	-17	c.196 others(36): Show c.1961+2095_1961+2111delAAAAAAAAAAAAAAAAA		MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	13/13						chr6	TogoVar
MCMBP_chr10_119824440_119877843	119836757	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01891.hp1 HG02080.hp2 others(8): Show HG00408.hp2 HG01891.hp1 HG02080.hp2 HG02258.hp1 HG03041.hp1 HG03516.hp2 NA18955.hp1 NA18966.hp1 NA19066.hp1 NA19080.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0260 a0001c0001t0001g0276 a0001c0001t0001g0280 others(8): Show a0001c0001t0001g0260 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0314 a0001c0001t0001g0349 a0001c0001t0010g0198 a0001c0001t0010g0199 a0001c0001t0010g0200 a0001c0001t0010g0201 a0001c0001t0010g0239	11	400	0.0275	-17	c.154 others(34): Show c.1542+122_1542+138delAAAAAAAAAAAAAAAAA		MCMBP	ENSG00000197771.13	transcript	ENST00000369077.4	protein_coding	13/15						chr10	TogoVar
MCMBP_chr10_119824440_119877843	119852293	TACTCGAA others(10): Show TACTCGAATATATTACAA	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	400	0.0025	-17	c.574 others(32): Show c.574+740_574+756delTTGTAATATATTCGAGT		MCMBP	ENSG00000197771.13	transcript	ENST00000369077.4	protein_coding	6/15						chr10	TogoVar

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