JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MAP2K5_chr15_67537703_67812114	67739450	ATATATAT others(27): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03453.hp2 HG02258.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0189 a0001c0001t0001g0160 a0001c0001t0001g0189	2	278	0.0072	-34	c.107 others(53): Show c.1075-8779_1075-8746delATATATATATATTTTTTTTTTTTTTT TTTTTTTT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP3K12_chr12_53474669_53504458	53498908	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01361.hp2 HG01943.hp2 others(6): Show HG00323.hp2 HG01361.hp2 HG01943.hp2 HG02572.hp2 HG03041.hp2 HG03669.hp1 HG03831.hp1 HG03942.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 others(6): Show a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0002g0116 a0001c0001t0007g0109	9	328	0.0274	-34	c.-38 others(49): Show c.-38+485_-38+518delCACACACACACACACACACACACACACACA CACA	MAP3K12	ENSG00000139625.13	transcript	ENST00000547488.6	protein_coding	1/13			chr12	TogoVar
MAP3K13_chr3_185358136_185494094	185414722	CAATGAAT others(27): Show CAATGAATTATTTGATTTTAATGTATAGTATAAAA	C C	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18975.hp2 NA18983.hp2 others(3): Show NA18952.hp1 NA18975.hp2 NA18983.hp2 NA18992.hp2 NA19003.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0081 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0176 a0001c0001t0022g0085	6	278	0.0216	-34	c.-85 others(53): Show c.-85-13774_-85-13741delAATGAATTATTTGATTTTAATGTATA GTATAAAA	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	1/13			chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19429760	AAGAGAGA others(27): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01243.hp1 others(8): Show HG01070.hp1 HG01071.hp1 HG01243.hp1 HG01884.hp1 HG02257.hp1 HG02622.hp1 HG02809.hp2 HG02922.hp1 HG03225.hp1 HG03516.hp1 HG03579.hp1	a0000 a0002 a0006 a0000 a0002 a0006	a0000c0021 a0002c0002 a0002c0003 others(1): Show a0000c0021 a0002c0002 a0002c0003 a0006c0018	a0000c0021t0007 a0002c0002t0003 a0002c0002t0008 others(4): Show a0000c0021t0007 a0002c0002t0003 a0002c0002t0008 a0002c0002t0022 a0002c0003t0007 a0002c0003t0009 a0006c0018t0007	a0000c0021t0007g0054 a0002c0002t0003g0026 a0002c0002t0008g0013 others(8): Show a0000c0021t0007g0054 a0002c0002t0003g0026 a0002c0002t0008g0013 a0002c0002t0008g0015 a0002c0002t0008g0016 a0002c0002t0022g0161 a0002c0003t0007g0142 a0002c0003t0009g0155 a0002c0003t0009g0156 a0002c0003t0009g0157 a0006c0018t0007g0132	11	163	0.0675	-34	c.116 others(53): Show c.1166+1644_1166+1677delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	7/28			chrX	TogoVar
MAP3K21_chr1_233322724_233390148	233339194	ATTTCTTC others(27): Show ATTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	372	0.0027	-34	c.806 others(51): Show c.806-7245_806-7212delTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTT	MAP3K21	ENSG00000143674.11	transcript	ENST00000366624.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K5_chr6_136552046_136797477	136642036	AAAATAAA others(27): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp2 HG02809.hp2 others(4): Show HG02572.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG03195.hp1 HG03540.hp1 HG03540.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0004 a0008c0027 a0001c0001 a0001c0004 a0008c0027	a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 a0008c0027t0001	a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 others(4): Show a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0005g0161 a0001c0004t0001g0001 a0001c0004t0001g0060 a0008c0027t0001g0143	7	162	0.0432	-34	c.183 others(51): Show c.1838+450_1838+483delATTTTATTTTATTTTATTTTATTTTATT TTATTT	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	12/29			chr6	TogoVar
MAP4K1_chr19_38582641_38622953	38618539	TACAAATG others(27): Show TACAAATGGGACGCTCGCCCTCAGCTCCAAGACCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	348	0.0029	-34	c.-67 others(43): Show c.-678_-645delCGGTCTTGGAGCTGAGGGCGAGCGTCCCATTTGT	MAP4K1	ENSG00000104814.13	transcript	ENST00000396857.7	protein_coding		587		chr19	TogoVar
MAP6D1_chr3_183810922_183830577	183822240	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02257.hp2 HG03195.hp1 others(3): Show HG01358.hp1 HG02257.hp2 HG03195.hp1 HG06807.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0020 a0001c0003t0002g0171 a0001c0003t0002g0172 a0001c0003t0002g0020 a0001c0003t0002g0171 a0001c0003t0002g0172	6	462	0.0130	-34	c.401 others(51): Show c.401+2873_401+2906delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	MAP6D1	ENSG00000180834.8	transcript	ENST00000318631.8	protein_coding	1/2			chr3	TogoVar
MAP7D2_chrX_20001713_20121907	20094508	ATATATAT others(27): Show ATATATATGTATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02015.hp1 HG03017.hp1 others(2): Show HG01123.hp1 HG02015.hp1 HG03017.hp1 NA18957.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0003 a0002c0002t0001 a0002c0003t0003	a0002c0002t0001g0151 a0002c0002t0001g0163 a0002c0002t0001g0193 others(2): Show a0002c0002t0001g0151 a0002c0002t0001g0163 a0002c0002t0001g0193 a0002c0003t0003g0094 a0002c0003t0003g0095	5	210	0.0238	-34	c.130 others(53): Show c.130+22208_130+22241delCATATATATATATATATATATATATA CATATATA	MAP7D2	ENSG00000184368.16	transcript	ENST00000379643.10	protein_coding	1/16			chrX	TogoVar
MAP7D2_chrX_20001713_20121907	20094535	TATATATG others(27): Show TATATATGTATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02809.hp1 HG02257.hp2 HG02486.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0144 a0002c0002t0001g0148 a0002c0002t0001g0149	3	210	0.0143	-34	c.130 others(53): Show c.130+22181_130+22214delGTATATATATATATATATATATATAT ACATATAT	MAP7D2	ENSG00000184368.16	transcript	ENST00000379643.10	protein_coding	1/16			chrX	TogoVar
MAP7_chr6_136337734_136555422	136456815	AGAAGAAG others(27): Show AGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01993.hp1 HG02055.hp2 others(1): Show HG01346.hp1 HG01993.hp1 HG02055.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0126 a0001c0001t0001g0129 others(1): Show a0001c0001t0001g0108 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0142	4	248	0.0161	-34	c.68- others(51): Show c.68-35050_68-35017delCTCTTCTTCTTCTTCTTCTTCTTCTTCC TTCTTC	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAPK10_chr4_86005405_86365053	86052523	AGGAACCC others(27): Show AGGAACCCTTAGGGGTCATAGGAAAGCTCAGTGCT	A A	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	170	0.0059	-34	c.111 others(55): Show c.1110+11709_1110+11742delAGCACTGAGCTTTCCTATGACCCC TAAGGGTTCC	MAPK10	ENSG00000109339.24	transcript	ENST00000641462.2	protein_coding	11/13			chr4	TogoVar
MAPK1_chr22_21754657_21872645	21814845	CGAGAGAG others(27): Show CGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0302 a0001c0001t0054g0302	1	348	0.0029	-34	c.120 others(51): Show c.120-7033_120-7000delTCTCTCTCTCTCTCTCTCTCTCTCTGTC TCTCTC	MAPK1	ENSG00000100030.15	transcript	ENST00000215832.11	protein_coding	1/8			chr22	TogoVar
MAPK8_chr10_48301677_48444360	48382888	GTATATAT others(27): Show GTATATATATAGCTATGTGTATATATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18987.hp1 HG02165.hp2 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0014 a0001c0002t0017g0015 a0001c0002t0017g0014 a0001c0002t0017g0015	2	306	0.0065	-34	c.-49 others(53): Show c.-49-18694_-49-18661delATGTATATATATATAGCTATGTGTAT ATATATAT	MAPK8	ENSG00000107643.17	transcript	ENST00000374189.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAPKAP1_chr9_125432394_125712208	125698288	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp2 HG02976.hp1 others(1): Show HG02109.hp1 HG02886.hp2 HG02976.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 others(1): Show a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217	4	300	0.0133	-34	c.-70 others(51): Show c.-70+8649_-70+8682delATATATATATATATATATATATATATAT ATATAT	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	1/11			chr9	TogoVar
MAPRE1_chr20_32814954_32855405	32826060	CTGCTGGA others(27): Show CTGCTGGATCATTTTTCTAGGAAAGCCTGTAGGTT	C C	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	386	0.0026	-34	c.121 others(47): Show c.121+14_121+47delGCTGGATCATTTTTCTAGGAAAGCCTGTAGGT TT	MAPRE1	ENSG00000101367.9	transcript	ENST00000375571.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAPT_chr17_45889554_46033334	45956548	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01433.hp2 HG01099.hp2 HG01433.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0001 a0003c0004t0004g0018 a0003c0004t0004g0001 a0003c0004t0004g0018	2	253	0.0079	-34	c.-17 others(51): Show c.-17-5753_-17-5720delATATATATATATATATATATATATATAT ATATAT	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF1_chr4_163519718_164389019	164346604	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0060 a0001c0002t0003g0060	1	102	0.0098	-34	c.-32 others(55): Show c.-323+37232_-323+37265delTATATATATATATATATATATATA TATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF6_chr5_10348695_10445388	10435631	CTATATAA others(27): Show CTATATAACTATATATATATATATATATATATATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp1 NA18965.hp2 NA18971.hp2 others(3): Show HG01175.hp1 NA18965.hp2 NA18971.hp2 NA19003.hp2 NA19088.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0100 a0001c0001t0105 others(1): Show a0001c0001t0018 a0001c0001t0100 a0001c0001t0105 a0001c0001t0113	a0001c0001t0018g0099 a0001c0001t0018g0100 a0001c0001t0018g0101 others(3): Show a0001c0001t0018g0099 a0001c0001t0018g0100 a0001c0001t0018g0101 a0001c0001t0100g0272 a0001c0001t0105g0074 a0001c0001t0113g0021	6	284	0.0211	-34	c.19 others(45): Show c.1954_*1987delACTATATATATATATATATATATATATATATATA	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26	1954	INFO_REALIGN_3_PRIME	chr5	TogoVar
MARCHF7_chr2_159707506_159776027	159770539	GATAATTG others(27): Show GATAATTGATGGGGTGTGGATTCAGAAGAGGGATT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0039 a0003c0006t0039	a0003c0006t0039g0011 a0003c0006t0039g0011	1	364	0.0028	-34	c.31 others(45): Show c.3199_*3232delTAATTGATGGGGTGTGGATTCAGAAGAGGGATTA	MARCHF7	ENSG00000136536.15	transcript	ENST00000409175.6	protein_coding	12/12	3199	INFO_REALIGN_3_PRIME	chr2	TogoVar
MARS1_chr12_57483068_57521652	57493743	TTATATAC others(27): Show TTATATACATTATATTATATATATTATATATAATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19240.hp1 NA19043.hp2 NA19240.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0246 a0002c0005t0001g0280 a0002c0005t0001g0246 a0002c0005t0001g0280	2	288	0.0069	-34	c.770 others(51): Show c.770+3105_770+3138delACATTATATTATATATATTATATATAAT ATATAT	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MB21D2_chr3_192791815_192922856	192828591	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02129.hp1 HG02572.hp2 others(5): Show HG02109.hp1 HG02129.hp1 HG02572.hp2 HG02647.hp1 HG03041.hp2 NA18906.hp2 NA18977.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0164 others(5): Show a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0164 a0001c0001t0001g0180 a0001c0001t0002g0032 a0001c0001t0002g0124 a0001c0001t0002g0201 a0001c0001t0002g0286	8	298	0.0269	-34	c.212 others(53): Show c.212-28975_212-28942delATATATATATATATATATATATATAT ATATATAT	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MBD3L4_chr19_7032749_7045179	7034708	CAATTTAT others(27): Show CAATTTATATGTTATATAATTATATATTATAATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02559.hp1 HG01891.hp2 HG02486.hp1 HG02559.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0008 a0003c0003 a0007c0008	a0003c0003t0002 a0007c0008t0001 a0003c0003t0002 a0007c0008t0001	a0003c0003t0002g0003 a0007c0008t0001g0024 a0007c0008t0001g0039 a0003c0003t0002g0003 a0007c0008t0001g0024 a0007c0008t0001g0039	3	262	0.0115	-34	c.31 others(45): Show c.3119_*3152delATATTATAATATATAATTATATAACATATAAATT	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		3040		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035740	TAATTATA others(27): Show TAATTATATAACATATAAATTATATTATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	262	0.0038	-34	c.20 others(45): Show c.2087_*2120delTATATATATAATATAATTTATATGTTATATAATT	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2008		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035880	ATATATAA others(27): Show ATATATAATATAATTCTATAACATATAAATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01975.hp1 others(7): Show HG00735.hp1 HG00738.hp2 HG01975.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp2 NA19074.hp1 NA19083.hp2 NA19089.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0031	10	262	0.0382	-34	c.19 others(45): Show c.1947_*1980delATATAATTTATATGTTATAGAATTATATTATATA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		1868		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7034708	CAATTTAT others(27): Show CAATTTATATGTTATATAATTATATATTATAATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG03041.hp1 others(1): Show HG01891.hp2 HG02486.hp1 HG03041.hp1 HG03486.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0008 a0005c0006t0001g0008	4	249	0.0161	-34	c.18 others(45): Show c.1815_*1848delAATTTATATGTTATATAATTATATATTATAATAT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		1698		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035880	ATATATAA others(27): Show ATATATAATATAATTCTATAACATATAAATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG03491.hp1 HG03492.hp1 others(4): Show HG00738.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG04199.hp1 NA19083.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	7	249	0.0281	-34	c.29 others(45): Show c.2987_*3020delTATATAATATAATTCTATAACATATAAATTATAT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2870		chr19	TogoVar
MBNL2_chr13_97217333_97399120	97233126	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0250 a0001c0001t0013g0250	1	254	0.0039	-34	c.-60 others(55): Show c.-605+10612_-605+10645delATATATATATATATATATATATAT ATATATATAT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL3_chrX_132364320_132494038	132408092	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0088 a0001c0001t0005g0088	1	191	0.0052	-34	c.178 others(51): Show c.178-1734_178-1701delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	2/8			chrX	TogoVar
MBP_chr18_76973833_77137783	77036881	GTTTTGGA others(27): Show GTTTTGGAGACTGAGCTGAGCAAGTGCTGGTCACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(324): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0002c0005 a0002c0006 a0003c0004 a0004c0007 a0005c0008 a0006c0011 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(69): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0042 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030 a0001c0002t0043 a0001c0002t0048 a0001c0002t0049 a0001c0002t0050 a0001c0002t0052 a0001c0003t0010 a0001c0003t0023 a0001c0003t0025 a0001c0009t0001 a0002c0005t0001 a0002c0005t0021 a0002c0005t0040 a0002c0006t0001 a0002c0006t0005 a0003c0004t0011 a0003c0004t0013 a0004c0007t0001 a0005c0008t0011 a0005c0008t0012 a0006c0011t0005 a0007c0010t0019	a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 others(322): Show a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0139 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0248 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0281 a0001c0001t0002g0294 a0001c0001t0002g0302 a0001c0001t0002g0311 a0001c0001t0002g0316 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0042 a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0066 a0001c0001t0003g0070 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0114 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0151 a0001c0001t0003g0173 a0001c0001t0003g0186 a0001c0001t0003g0201 a0001c0001t0004g0020 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0004g0040 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0057 a0001c0001t0004g0067 a0001c0001t0004g0078 a0001c0001t0004g0091 a0001c0001t0004g0107 a0001c0001t0004g0119 a0001c0001t0004g0130 a0001c0001t0004g0132 a0001c0001t0004g0137 a0001c0001t0004g0199 a0001c0001t0004g0217 a0001c0001t0005g0001 a0001c0001t0005g0232 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0247 a0001c0001t0005g0251 a0001c0001t0005g0259 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0267 a0001c0001t0005g0277 a0001c0001t0005g0280 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0300 a0001c0001t0005g0308 a0001c0001t0005g0318 a0001c0001t0005g0321 a0001c0001t0006g0229 a0001c0001t0006g0233 a0001c0001t0006g0243 a0001c0001t0006g0246 a0001c0001t0006g0250 a0001c0001t0006g0266 a0001c0001t0006g0270 a0001c0001t0006g0285 a0001c0001t0006g0299 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0310 a0001c0001t0006g0312 a0001c0001t0006g0313 a0001c0001t0006g0322 a0001c0001t0006g0323 a0001c0001t0006g0324 a0001c0001t0006g0325 a0001c0001t0006g0326 a0001c0001t0006g0327 a0001c0001t0006g0329 a0001c0001t0007g0333 a0001c0001t0007g0341 a0001c0001t0007g0342 a0001c0001t0007g0348 a0001c0001t0007g0358 a0001c0001t0007g0370 a0001c0001t0007g0373 a0001c0001t0007g0374 a0001c0001t0008g0334 a0001c0001t0008g0335 a0001c0001t0008g0344 a0001c0001t0008g0346 a0001c0001t0008g0349 a0001c0001t0008g0352 a0001c0001t0008g0355 a0001c0001t0008g0356 a0001c0001t0008g0359 a0001c0001t0008g0366 a0001c0001t0008g0367 a0001c0001t0008g0371 a0001c0001t0008g0375 a0001c0001t0008g0384 a0001c0001t0009g0017 a0001c0001t0009g0072 a0001c0001t0009g0080 a0001c0001t0009g0083 a0001c0001t0009g0128 a0001c0001t0009g0133 a0001c0001t0009g0144 a0001c0001t0009g0147 a0001c0001t0009g0152 a0001c0001t0009g0207 a0001c0001t0009g0215 a0001c0001t0010g0021 a0001c0001t0010g0068 a0001c0001t0010g0069 a0001c0001t0010g0123 a0001c0001t0010g0125 a0001c0001t0011g0140 a0001c0001t0011g0148 a0001c0001t0011g0163 a0001c0001t0011g0165 a0001c0001t0012g0006 a0001c0001t0013g0146 a0001c0001t0014g0284 a0001c0001t0014g0317 a0001c0001t0015g0340 a0001c0001t0015g0343 a0001c0001t0015g0357 a0001c0001t0015g0365 a0001c0001t0016g0338 a0001c0001t0016g0339 a0001c0001t0016g0350 a0001c0001t0016g0372 a0001c0001t0016g0378 a0001c0001t0017g0008 a0001c0001t0017g0009 a0001c0001t0017g0018 a0001c0001t0017g0166 a0001c0001t0018g0224 a0001c0001t0023g0221 a0001c0001t0024g0227 a0001c0001t0026g0364 a0001c0001t0027g0385 a0001c0001t0028g0389 a0001c0001t0029g0394 a0001c0001t0032g0143 a0001c0001t0033g0090 a0001c0001t0034g0029 a0001c0001t0035g0203 a0001c0001t0037g0010 a0001c0001t0042g0220 a0001c0001t0044g0305 a0001c0001t0046g0331 a0001c0001t0047g0332 a0001c0001t0051g0387 a0001c0001t0053g0392 a0001c0001t0054g0391 a0001c0002t0001g0004 a0001c0002t0001g0019 a0001c0002t0001g0056 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0071 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0110 a0001c0002t0001g0127 a0001c0002t0001g0142 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0162 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0192 a0001c0002t0001g0195 a0001c0002t0001g0212 a0001c0002t0002g0230 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0240 a0001c0002t0002g0249 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0258 a0001c0002t0002g0275 a0001c0002t0002g0279 a0001c0002t0002g0283 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0309 a0001c0002t0002g0315 a0001c0002t0004g0111 a0001c0002t0006g0288 a0001c0002t0007g0336 a0001c0002t0007g0337 a0001c0002t0007g0345 a0001c0002t0007g0351 a0001c0002t0007g0360 a0001c0002t0007g0363 a0001c0002t0007g0379 a0001c0002t0007g0382 a0001c0002t0007g0383 a0001c0002t0008g0369 a0001c0002t0008g0377 a0001c0002t0011g0129 a0001c0002t0012g0012 a0001c0002t0012g0160 a0001c0002t0012g0197 a0001c0002t0019g0276 a0001c0002t0019g0286 a0001c0002t0020g0231 a0001c0002t0020g0244 a0001c0002t0021g0293 a0001c0002t0027g0390 a0001c0002t0028g0386 a0001c0002t0029g0393 a0001c0002t0030g0093 a0001c0002t0043g0218 a0001c0002t0048g0361 a0001c0002t0049g0380 a0001c0002t0050g0354 a0001c0002t0052g0388 a0001c0003t0010g0005 a0001c0003t0010g0015 a0001c0003t0010g0141 a0001c0003t0010g0210 a0001c0003t0010g0211 a0001c0003t0023g0223 a0001c0003t0025g0228 a0001c0003t0025g0245 a0001c0009t0001g0205 a0002c0005t0001g0126 a0002c0005t0021g0002 a0002c0005t0040g0202 a0002c0006t0001g0116 a0002c0006t0001g0189 a0002c0006t0005g0320 a0003c0004t0011g0134 a0003c0004t0013g0073 a0003c0004t0013g0115 a0003c0004t0013g0150 a0004c0007t0001g0153 a0004c0007t0001g0191 a0005c0008t0011g0011 a0005c0008t0012g0135 a0006c0011t0005g0269 a0007c0010t0019g0282	327	396	0.8258	-34	c.140 others(53): Show c.140-19647_140-19614delTGTGACCAGCACTTGCTCAGCTCAGT CTCCAAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77037223	GTTTTGGA others(27): Show GTTTTGGAGACTGAGCTGAGCAAGTGCTGGTCACA	G G	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19074.hp2 NA19006.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0131 a0001c0001t0003g0124 a0001c0001t0003g0131	2	396	0.0051	-34	c.140 others(53): Show c.140-19989_140-19956delTGTGACCAGCACTTGCTCAGCTCAGT CTCCAAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51197041	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02132.hp2 HG02258.hp2 others(3): Show HG02015.hp2 HG02132.hp2 HG02258.hp2 HG02559.hp1 HG02818.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0062 a0001c0001t0138 others(3): Show a0001c0001t0001 a0001c0001t0062 a0001c0001t0138 a0001c0001t0143 a0001c0001t0153 a0001c0003t0038	a0001c0001t0001g0118 a0001c0001t0062g0128 a0001c0001t0138g0054 others(3): Show a0001c0001t0001g0118 a0001c0001t0062g0128 a0001c0001t0138g0054 a0001c0001t0143g0186 a0001c0001t0153g0057 a0001c0003t0038g0010	6	340	0.0177	-34	c.122 others(53): Show c.1225-1714_1225-1681delATATATATATATATATATATATATAT ATATATAT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	12/16			chr17	TogoVar
MC1R_chr16_89913862_89925972	89914719	GTGTGTGT others(27): Show GTGTGTGTGTGTGCCTGTGTGTGTGGGTGCACATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	396	0.0025	-34	c.-45 others(45): Show c.-4539_-4506delTGTGTGTGTGTGCCTGTGTGTGTGGGTGCACATT	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		4142		chr16	TogoVar
MC1R_chr16_89913862_89925972	89914735	GTGTGTGT others(27): Show GTGTGTGTGGGTGCACATTTGTGTGTGTGTGTGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0003 a0007c0026t0003	a0007c0026t0003g0000 a0007c0026t0003g0000	1	396	0.0025	-34	c.-45 others(45): Show c.-4523_-4490delTGTGTGTGGGTGCACATTTGTGTGTGTGTGTGCC	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		4126		chr16	TogoVar
MC1R_chr16_89913862_89925972	89914755	GTGTGTGT others(27): Show GTGTGTGTGTGTGCCTGTGTGTGTGGGTGCACATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(171): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA18999.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0008 a0009 a0012	a0001c0001 a0001c0003 a0001c0010 others(11): Show a0001c0001 a0001c0003 a0001c0010 a0001c0011 a0001c0014 a0002c0002 a0002c0013 a0002c0019 a0002c0020 a0002c0021 a0006c0009 a0008c0012 a0009c0015 a0012c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0004 a0001c0003t0011 a0001c0010t0001 a0001c0011t0009 a0001c0014t0004 a0002c0002t0001 a0002c0013t0001 a0002c0019t0001 a0002c0020t0001 a0002c0021t0001 a0006c0009t0001 a0008c0012t0001 a0009c0015t0001 a0012c0018t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0006g0000 others(14): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0003t0004g0000 a0001c0003t0011g0000 a0001c0010t0001g0000 a0001c0011t0009g0000 a0001c0014t0004g0000 a0002c0002t0001g0000 a0002c0013t0001g0000 a0002c0019t0001g0000 a0002c0020t0001g0000 a0002c0021t0001g0000 a0006c0009t0001g0000 a0008c0012t0001g0000 a0009c0015t0001g0000 a0012c0018t0001g0000	174	396	0.4394	-34	c.-45 others(45): Show c.-4503_-4470delTGTGTGTGTGTGCCTGTGTGTGTGGGTGCACATT	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		4106		chr16	TogoVar
MC1R_chr16_89913862_89925972	89914802	CCTGTGTG others(27): Show CCTGTGTGTGTGGGTGCACATTTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0003 a0015c0016t0003	a0015c0016t0003g0000 a0015c0016t0003g0000	1	396	0.0025	-34	c.-44 others(45): Show c.-4456_-4423delCTGTGTGTGTGGGTGCACATTTGTGTGTGTGTGT	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		4059		chr16	TogoVar
MC2R_chr18_13877044_13920536	13883601	ACACACAC others(27): Show ACACACACACACACACACACACACACACTCTCTCT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00673.hp1 others(56): Show HG00408.hp2 HG00423.hp1 HG00673.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01952.hp2 HG02015.hp2 HG02074.hp1 HG02129.hp1 HG02165.hp2 HG02257.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03516.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18969.hp2 NA18972.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19054.hp2 NA19055.hp2 NA19060.hp2 NA19062.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19076.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0033 a0001c0001t0002 a0001c0001t0018 a0001c0001t0033	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0017 others(35): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0267 a0001c0001t0018g0230 a0001c0001t0018g0231 a0001c0001t0018g0319 a0001c0001t0018g0320 a0001c0001t0033g0041	59	416	0.1418	-34	c.99 others(44): Show c.990_*1023delAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTG	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	2/2	990		chr18	TogoVar
MC2R_chr18_13877044_13920536	13883603	ACACACAC others(27): Show ACACACACACACACACACACACACACTCTCTCTCT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG02055.hp2 HG02683.hp2 others(4): Show HG00741.hp2 HG02055.hp2 HG02683.hp2 HG03239.hp2 HG03471.hp1 HG03927.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0013 a0001c0001t0013g0077 a0001c0001t0013g0079 others(2): Show a0001c0001t0013g0013 a0001c0001t0013g0077 a0001c0001t0013g0079 a0001c0001t0013g0080 a0001c0001t0013g0081	7	416	0.0168	-34	c.98 others(44): Show c.988_*1021delAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTG	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	2/2	988		chr18	TogoVar
MC4R_chr18_60366062_60377775	60370163	GCAAAACA others(27): Show GCAAAACATTTTACTCTTCAAGAAGTGGCTGTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	428	0.0023	-34	c.11 others(45): Show c.1154_*1187delTCCACAGCCACTTCTTGAAGAGTAAAATGTTTTG	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		898		chr18	TogoVar
MCC_chr5_113017106_113493453	113299292	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0075 a0001c0003t0009g0075	1	160	0.0063	-34	c.627 others(53): Show c.627+41193_627+41226delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCF2L2_chr3_183173041_183433619	183342620	ATGTGTGT others(27): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02109.hp1 HG02451.hp1 others(8): Show HG02074.hp1 HG02109.hp1 HG02451.hp1 HG03579.hp2 HG03831.hp1 HG04184.hp1 NA18941.hp2 NA18969.hp1 NA18994.hp1 NA19010.hp1 NA19043.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0018	a0001c0001 a0001c0016 a0001c0023 others(3): Show a0001c0001 a0001c0016 a0001c0023 a0003c0003 a0004c0004 a0018c0019	a0001c0001t0001 a0001c0001t0002 a0001c0016t0011 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0016t0011 a0001c0023t0010 a0003c0003t0003 a0004c0004t0021 a0004c0004t0023 a0018c0019t0001	a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0134 others(8): Show a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0002g0122 a0001c0016t0011g0163 a0001c0023t0010g0008 a0003c0003t0003g0049 a0004c0004t0021g0149 a0004c0004t0023g0169 a0018c0019t0001g0032	11	176	0.0625	-34	c.276 others(50): Show c.276-1024_276-991delCACACACACACACACACACACACACACAC ACACA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCIDAS_chr5_55214564_55232315	55231747	GGTGAAGT others(27): Show GGTGAAGTGCAGCTTGTGCAGCACGATGCACTCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	386	0.0026	-34	c.-46 others(45): Show c.-4643_-4610delTCGAGTGCATCGTGCTGCACAAGCTGCACTTCAC	MCIDAS	ENSG00000234602.9	transcript	ENST00000513312.3	protein_coding		4433		chr5	TogoVar
MCM10_chr10_13156558_13216110	13204994	GTATGTAT others(27): Show GTATGTATGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	432	0.0023	-34	c.249 others(51): Show c.2498+634_2498+667delGTATGTATATATATATATATATATATAT ATATAT	MCM10	ENSG00000065328.17	transcript	ENST00000378714.8	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCM10_chr10_13156558_13216110	13204998	GTATGTAT others(27): Show GTATGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02559.hp2 HG01109.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0267 a0001c0001t0001g0061 a0001c0001t0001g0267	2	432	0.0046	-34	c.249 others(51): Show c.2498+638_2498+671delGTATATATATATATATATATATATATAT ATATAT	MCM10	ENSG00000065328.17	transcript	ENST00000378714.8	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCM6_chr2_135834626_135881443	135835482	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	394	0.0025	-34	c.53 others(45): Show c.5319_*5352delTATATATATATATATATATATATATATATATATA	MCM6	ENSG00000076003.5	transcript	ENST00000264156.3	protein_coding		4143		chr2	TogoVar
MCTP1_chr5_94698690_95290094	95201464	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0040 a0001c0001t0016g0040	1	98	0.0102	-34	c.720 others(53): Show c.720+82358_720+82391delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95207944	AGAGGGAG others(27): Show AGAGGGAGAGAGAGGGAGAGAGAGGGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03927.hp2 HG01346.hp1 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0003t0026 a0001c0002t0006 a0001c0003t0026	a0001c0002t0006g0023 a0001c0003t0026g0051 a0001c0002t0006g0023 a0001c0003t0026g0051	2	98	0.0204	-34	c.720 others(53): Show c.720+75878_720+75911delCCTCTCTCTCCCTCTCTCTCCCTCTC TCTCCCTC	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94390056	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0020 a0003c0009t0020	a0003c0009t0020g0128 a0003c0009t0020g0128	1	276	0.0036	-34	c.178 others(53): Show c.1788+4555_1788+4588delATATATATATGTATATATATATATAT ATATATAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCU_chr10_72687143_72892694	72804017	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	210	0.0048	-34	c.151 others(53): Show c.151-30318_151-30285delTATATATATATATATATATATATATA TATATATA	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MDGA1_chr6_37625679_37702883	37664842	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0257 a0001c0002t0003g0257	1	402	0.0025	-34	c.68- others(47): Show c.68-770_68-737delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	1/16			chr6	TogoVar

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