Joint Open Genome and Omics Platform (JoGo)

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
MOK_chr14_102223836_102310164	102261401	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18953.hp2 NA18952.hp1 NA18953.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0016 a0003c0002t0002g0017 a0003c0002t0002g0016 a0003c0002t0002g0017	2	252	0.0079	-33	c.283 others(50): Show c.283+2112_283+2144delATATATATATATATATTTTTTTTTTTTT TTTTT	MOK	ENSG00000080823.23	transcript	ENST00000361847.7	protein_coding	4/11			chr14	TogoVar
MOK_chr14_102223836_102310164	102261403	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA19091.hp2 HG01346.hp1 NA19091.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0022 a0003c0002t0002g0110 a0003c0002t0002g0022 a0003c0002t0002g0110	2	252	0.0079	-33	c.283 others(50): Show c.283+2110_283+2142delATATATATATATATATATTTTTTTTTTT TTTTT	MOK	ENSG00000080823.23	transcript	ENST00000361847.7	protein_coding	4/11			chr14	TogoVar
MOK_chr14_102223836_102310164	102261405	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0021 a0003c0002t0002g0021	1	252	0.0040	-33	c.283 others(50): Show c.283+2108_283+2140delATATATATATATATATATATTTTTTTTT TTTTT	MOK	ENSG00000080823.23	transcript	ENST00000361847.7	protein_coding	4/11			chr14	TogoVar
MOV10L1_chr22_50085006_50166687	50137770	TTATATAT others(26): Show TTATATATATACATATATAAATATACATATTTTA	T T	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0033 a0002c0002t0002g0033	1	400	0.0025	-33	c.207 others(52): Show c.2070+3149_2070+3181delTACATATATAAATATACATATTTTAT ATATATA	MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43495269	GTGGTGGT others(26): Show GTGGTGGTGGTGATGGAGGTGGTGATGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0028 a0001c0002t0004g0028	1	250	0.0040	-33	c.633 others(50): Show c.633-2957_633-2925delGTGATGGAGGTGGTGATGGAGGTGATGG TGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496299	TGGAGGTA others(26): Show TGGAGGTAGTGGTGGCGGAGATGGTGGTGATGGA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA21309.hp2 HG01069.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0007 a0001c0008t0018 a0001c0002t0007 a0001c0008t0018	a0001c0002t0007g0214 a0001c0008t0018g0011 a0001c0002t0007g0214 a0001c0008t0018g0011	2	250	0.0080	-33	c.633 others(50): Show c.633-1933_633-1901delAGGTAGTGGTGGCGGAGATGGTGGTGAT GGAGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496481	GAGATGGT others(26): Show GAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp2 NA18966.hp2 HG02622.hp2 HG02922.hp2 NA18966.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0007 a0001c0003 a0001c0004 a0001c0007	a0001c0003t0020 a0001c0004t0001 a0001c0007t0006 a0001c0003t0020 a0001c0004t0001 a0001c0007t0006	a0001c0003t0020g0031 a0001c0004t0001g0227 a0001c0007t0006g0190 a0001c0003t0020g0031 a0001c0004t0001g0227 a0001c0007t0006g0190	3	250	0.0120	-33	c.633 others(50): Show c.633-1753_633-1721delAGATGGTGGTGGTGGAGGTAGTGGTGGT GGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43498930	ATCCCTCC others(26): Show ATCCCTCCCATTCCACCTCCAAACTGCCTCCCAC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0230 a0001c0004t0005g0230	1	250	0.0040	-33	c.748 others(48): Show c.748+585_748+617delTCCCATTCCACCTCCAAACTGCCTCCCACT CCC	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRAP2_chr6_84028772_84095881	84084899	TTTTATTT others(26): Show TTTTATTTTATTTTATTTATTTATTTTATTTTAC	T T	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02559.hp2 HG03704.hp1 others(4): Show HG02273.hp1 HG02559.hp2 HG03704.hp1 HG04204.hp2 NA19001.hp1 NA19002.hp2 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0007 a0001c0003t0002 a0001c0003t0007	a0001c0003t0002g0064 a0001c0003t0002g0077 a0001c0003t0002g0078 others(4): Show a0001c0003t0002g0064 a0001c0003t0002g0077 a0001c0003t0002g0078 a0001c0003t0002g0086 a0001c0003t0002g0175 a0001c0003t0002g0224 a0001c0003t0007g0200	7	272	0.0257	-33	c.228 others(50): Show c.228-4174_228-4142delATTTATTTTATTTTACTTTATTTTATTT TATTT	MRAP2	ENSG00000135324.6	transcript	ENST00000257776.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
MRGPRE_chr11_3220030_3237417	3220395	GAAACACA others(26): Show GAAACACACCTCCCCTCTCTGAGCCTCAATTTCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0034 a0001c0001t0022g0034	1	452	0.0022	-33	c.74 others(44): Show c.7433_*7465delGGAAATTGAGGCTCAGAGAGGGGAGGTGTGTTT	MRGPRE	ENSG00000184350.11	transcript	ENST00000389832.7	protein_coding		4634		chr11	TogoVar
MROH1_chr8_144143016_144266926	144202601	AAGCGCAG others(26): Show AAGCGCAGGCTCTCTGTGGAGGGGTGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(42): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01175.hp2 HG01192.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02523.hp2 HG02683.hp2 HG02738.hp1 HG03834.hp1 HG04204.hp2 HG06807.hp2 NA18950.hp1 NA18959.hp1 NA19009.hp1 NA19057.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0016 others(3): Show a0001c0001 a0001c0002 a0001c0016 a0001c0019 a0001c0024 a0011c0023	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0016t0001 a0001c0019t0001 a0001c0024t0001 a0011c0023t0001	a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0103 others(42): Show a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0110 a0001c0002t0001g0113 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0126 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0002g0060 a0001c0002t0003g0072 a0001c0016t0001g0112 a0001c0019t0001g0111 a0001c0024t0001g0105 a0011c0023t0001g0139	45	140	0.3214	-33	c.114 others(52): Show c.1141+2081_1141+2113delGGGTGGGGAGGGGAGCGCAGGCTCTC TGTGGAG	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH2A_chr2_233773330_233838418	233790579	CCCTCCCC others(26): Show CCCTCCCCTCCCCTTTCCCTCACCTCCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01071.hp1 others(7): Show HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01109.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG03654.hp2 NA20752.hp2	a0001 a0002 a0012 others(2): Show a0001 a0002 a0012 a0014 a0041	a0001c0001 a0002c0020 a0012c0029 others(3): Show a0001c0001 a0002c0020 a0012c0029 a0012c0046 a0014c0090 a0041c0045	a0001c0001t0001 a0002c0020t0001 a0012c0029t0001 others(3): Show a0001c0001t0001 a0002c0020t0001 a0012c0029t0001 a0012c0046t0001 a0014c0090t0001 a0041c0045t0001	a0001c0001t0001g0312 a0002c0020t0001g0342 a0012c0029t0001g0345 others(7): Show a0001c0001t0001g0312 a0002c0020t0001g0342 a0012c0029t0001g0345 a0012c0029t0001g0346 a0012c0029t0001g0352 a0012c0046t0001g0340 a0012c0046t0001g0341 a0014c0090t0001g0353 a0041c0045t0001g0318 a0041c0045t0001g0319	10	378	0.0265	-33	c.571 others(48): Show c.571+568_571+600delTCCCCTCCCCTTTCCCTCACCTCCCCTCCC TCC	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH9_chr1_170930534_171069765	171044972	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02723.hp1 others(4): Show HG02280.hp2 HG02451.hp2 HG02723.hp1 HG03041.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0018 a0001c0003 a0001c0018	a0001c0003t0003 a0001c0018t0003 a0001c0003t0003 a0001c0018t0003	a0001c0003t0003g0001 a0001c0003t0003g0002 a0001c0003t0003g0003 others(4): Show a0001c0003t0003g0001 a0001c0003t0003g0002 a0001c0003t0003g0003 a0001c0003t0003g0004 a0001c0003t0003g0151 a0001c0003t0003g0223 a0001c0018t0003g0215	7	226	0.0310	-33	c.228 others(54): Show c.2282-17145_2282-17113delTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	MROH9	ENSG00000117501.15	transcript	ENST00000367759.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRO_chr18_50790130_50825016	50807510	GATCTAGT others(26): Show GATCTAGTACACATCTACAAACATTTCAGGATTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01071.hp2 others(5): Show HG00280.hp1 HG01070.hp1 HG01071.hp2 HG01358.hp1 HG02145.hp2 HG02559.hp2 NA19001.hp1 NA19077.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0003c0007	a0001c0001t0001 a0001c0004t0002 a0001c0006t0067 others(3): Show a0001c0001t0001 a0001c0004t0002 a0001c0006t0067 a0003c0007t0006 a0003c0007t0008 a0003c0007t0017	a0001c0001t0001g0216 a0001c0004t0002g0215 a0001c0006t0067g0217 others(4): Show a0001c0001t0001g0216 a0001c0004t0002g0215 a0001c0006t0067g0217 a0003c0007t0006g0013 a0003c0007t0006g0083 a0003c0007t0008g0086 a0003c0007t0017g0229	8	430	0.0186	-33	c.100 others(48): Show c.100-693_100-661delTAATCCTGAAATGTTTGTAGATGTGTACTA GAT	MRO	ENSG00000134042.14	transcript	ENST00000398439.8	protein_coding	3/7			chr18	TogoVar
MRPS5_chr2_95080369_95126808	95122469	CACAATGT others(26): Show CACAATGTCTTGTAAGAGGGTAGCCTGCTCAGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	290	0.0035	-33	c.-71 others(42): Show c.-711_-679delATCTGAGCAGGCTACCCTCTTACAAGACATTGT	MRPS5	ENSG00000144029.14	transcript	ENST00000272418.7	protein_coding		662		chr2	TogoVar
MS4A2_chr11_60083664_60103467	60103170	TAAACTTC others(26): Show TAAACTTCTCCTTGAACTAAGATGTTTACTTGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	-33	c.75 others(44): Show c.7515_*7547delAAACTTCTCCTTGAACTAAGATGTTTACTTGAG	MS4A2	ENSG00000149534.9	transcript	ENST00000278888.8	protein_coding		4704		chr11	TogoVar
MSANTD7_chr10_14833306_14851999	14844459	TTTTAAAA others(26): Show TTTTAAAATCCCTGTGTGGCTCATTAGACGACTA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0001 a0001c0001t0017g0001	1	404	0.0025	-33	c.56 others(42): Show c.567_*599delTTAAAATCCCTGTGTGGCTCATTAGACGACTAT	MSANTD7	ENSG00000284024.4	transcript	ENST00000640019.3	protein_coding	5/5	567	INFO_REALIGN_3_PRIME	chr10	TogoVar
MST1_chr3_49678947_49694474	49690054	CCCGAGGT others(26): Show CCCGAGGTCGGGAAAATCACCTTCCCGAGGAGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	320	0.0031	-33	c.-13 others(44): Show c.-1396_-1364delTGCTCCTCGGGAAGGTGATTTTCCCGACCTCGG	MST1	ENSG00000173531.16	transcript	ENST00000449682.3	protein_coding		581		chr3	TogoVar
MT4_chr16_56560073_56573957	56566786	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00597.hp2 others(11): Show HG00280.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG01070.hp1 HG01952.hp1 HG02698.hp2 HG02723.hp1 HG02895.hp2 NA18977.hp2 NA19005.hp1 NA19062.hp1 NA19086.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0025 a0001c0001t0001g0198 a0001c0001t0001g0249 others(10): Show a0001c0001t0001g0025 a0001c0001t0001g0198 a0001c0001t0001g0249 a0001c0001t0001g0285 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0349 a0001c0001t0001g0391 a0003c0003t0001g0190 a0003c0003t0001g0199	14	428	0.0327	-33	c.32- others(46): Show c.32-929_32-897delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA A	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56568240	AAAGAAAG others(26): Show AAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	428	0.0023	-33	c.97+ others(46): Show c.97+427_97+459delGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGA A	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTG1_chr10_133389157_133427520	133390982	ACCCGTTG others(26): Show ACCCGTTGGTGGATGCGTGTGAGCCGTTTTCCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	1	428	0.0023	-33	c.-32 others(44): Show c.-3238_-3206delCCCGTTGGTGGATGCGTGTGAGCCGTTTTCCCG	MTG1	ENSG00000148824.19	transcript	ENST00000317502.11	protein_coding		3174		chr10	TogoVar
MTG1_chr10_133389157_133427520	133391072	CGTTTTCC others(26): Show CGTTTTCCTGGCTGTTGATGGATACATGTGAGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG03239.hp2 NA20905.hp1 HG01433.hp1 HG03239.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0131 a0001c0001t0011g0024 a0001c0001t0001g0001 a0001c0001t0001g0131 a0001c0001t0011g0024	3	428	0.0070	-33	c.-31 others(44): Show c.-3148_-3116delGTTTTCCTGGCTGTTGATGGATACATGTGAGCT	MTG1	ENSG00000148824.19	transcript	ENST00000317502.11	protein_coding		3084		chr10	TogoVar
MTHFD1_chr14_64383353_64465025	64397137	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0204 a0003c0003t0001g0204	1	342	0.0029	-33	c.42- others(48): Show c.42-3654_42-3622delATATATATATATATATATATATATATATAT ATA	MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTHFS_chr15_79838547_79902014	79891654	CCAAAAAG others(26): Show CCAAAAAGGCACAAAGGAAAATAAATAATCAAAG	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0256 a0001c0001t0005g0256	1	394	0.0025	-33	c.118 others(50): Show c.118-2333_118-2301delCTTTGATTATTTATTTTCCTTTGTGCCT TTTTG	MTHFS	ENSG00000136371.11	transcript	ENST00000258874.4	protein_coding	1/2			chr15	TogoVar
MTIF2_chr2_55231595_55274231	55253794	GACAGAGT others(26): Show GACAGAGTGAGACTCTGTCTCAAAAAGAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp2 others(67): Show HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01928.hp2 HG02074.hp1 HG02083.hp2 HG02135.hp2 HG02148.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp1 HG04115.hp1 HG06807.hp2 NA18939.hp2 NA18942.hp2 NA18945.hp1 NA18953.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18984.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19011.hp1 NA19057.hp1 NA19066.hp1 NA19066.hp2 NA19076.hp2 NA19084.hp2 NA19085.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0010 a0004c0006 a0001c0001 a0001c0010 a0004c0006	a0001c0001t0001 a0001c0010t0001 a0004c0006t0001 a0001c0001t0001 a0001c0010t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 others(47): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0155 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0010t0001g0192 a0004c0006t0001g0206	70	384	0.1823	-33	c.664 others(48): Show c.664+214_664+246delTTTTTTTCTTTTTGAGACAGAGTCTCACTC TGT	MTIF2	ENSG00000085760.15	transcript	ENST00000263629.9	protein_coding	7/15			chr2	TogoVar
MUC22_chr6_31005474_31040402	31014347	TGAGCAAT others(26): Show TGAGCAATCCCATTTGGAAGCCTCTGTCCAACCA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(63): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG01106.hp2 HG01255.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02165.hp1 HG02258.hp1 HG02523.hp1 HG02523.hp2 HG02723.hp1 HG02809.hp2 HG03491.hp2 HG03704.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18987.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19006.hp1 NA19007.hp1 NA19058.hp2 NA19059.hp1 NA19060.hp1 NA19067.hp1 NA19070.hp2 NA19072.hp1 NA19078.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0002 a0006 a0016 others(21): Show a0002 a0006 a0016 a0017 a0031 a0032 a0033 a0043 a0045 a0046 a0047 a0048 a0060 a0063 a0065 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075	a0002c0006 a0002c0007 a0006c0005 others(24): Show a0002c0006 a0002c0007 a0006c0005 a0016c0020 a0017c0058 a0031c0037 a0032c0039 a0033c0035 a0043c0156 a0043c0165 a0045c0152 a0045c0153 a0046c0061 a0047c0060 a0048c0062 a0060c0101 a0063c0044 a0065c0155 a0067c0166 a0068c0158 a0069c0157 a0070c0151 a0071c0159 a0072c0160 a0073c0161 a0074c0162 a0075c0163	a0002c0006t0001 a0002c0007t0001 a0002c0007t0003 others(25): Show a0002c0006t0001 a0002c0007t0001 a0002c0007t0003 a0006c0005t0001 a0016c0020t0001 a0017c0058t0001 a0031c0037t0001 a0032c0039t0001 a0033c0035t0001 a0043c0156t0001 a0043c0165t0001 a0045c0152t0001 a0045c0153t0002 a0046c0061t0001 a0047c0060t0001 a0048c0062t0003 a0060c0101t0003 a0063c0044t0001 a0065c0155t0001 a0067c0166t0001 a0068c0158t0001 a0069c0157t0001 a0070c0151t0001 a0071c0159t0001 a0072c0160t0001 a0073c0161t0001 a0074c0162t0001 a0075c0163t0001	a0002c0006t0001g0010 a0002c0006t0001g0011 a0002c0006t0001g0024 others(49): Show a0002c0006t0001g0010 a0002c0006t0001g0011 a0002c0006t0001g0024 a0002c0006t0001g0126 a0002c0006t0001g0164 a0002c0006t0001g0169 a0002c0006t0001g0176 a0002c0006t0001g0177 a0002c0006t0001g0178 a0002c0007t0001g0010 a0002c0007t0001g0023 a0002c0007t0001g0024 a0002c0007t0001g0059 a0002c0007t0001g0160 a0002c0007t0001g0172 a0002c0007t0001g0175 a0002c0007t0001g0199 a0002c0007t0003g0010 a0006c0005t0001g0124 a0016c0020t0001g0013 a0016c0020t0001g0193 a0016c0020t0001g0195 a0016c0020t0001g0198 a0017c0058t0001g0161 a0017c0058t0001g0162 a0031c0037t0001g0010 a0031c0037t0001g0171 a0032c0039t0001g0013 a0032c0039t0001g0196 a0033c0035t0001g0043 a0033c0035t0001g0079 a0043c0156t0001g0060 a0043c0165t0001g0011 a0045c0152t0001g0170 a0045c0153t0002g0167 a0046c0061t0001g0010 a0046c0061t0001g0060 a0047c0060t0001g0058 a0048c0062t0003g0010 a0048c0062t0003g0166 a0060c0101t0003g0173 a0063c0044t0001g0054 a0065c0155t0001g0165 a0067c0166t0001g0013 a0068c0158t0001g0174 a0069c0157t0001g0011 a0070c0151t0001g0013 a0071c0159t0001g0194 a0072c0160t0001g0059 a0073c0161t0001g0197 a0074c0162t0001g0168 a0075c0163t0001g0163	66	461	0.1432	-33	c.70+ others(48): Show c.70+3586_70+3618delGGAAGCCTCTGTCCAACCAGAGCAATCCCA TTT	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC4_chr3_195741771_195816929	195767523	CACCATCG others(26): Show CACCATCGCCACCACCATCATCACCATCACCATT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0104 a0104	a0104c0030 a0104c0030	a0104c0030t0005 a0104c0030t0005	a0104c0030t0005g0232 a0104c0030t0005g0232	1	249	0.0040	-33	c.135 others(52): Show c.13530-805_13530-773delAATGGTGATGGTGATGATGGTGGTGG CGATGGT	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195767529	CGCCACCA others(26): Show CGCCACCACCATCATCACCATCACCATTACCATT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG02723.hp2 others(1): Show HG02486.hp2 HG02647.hp1 HG02723.hp2 HG03209.hp1	a0034 a0035 a0036 others(1): Show a0034 a0035 a0036 a0037	a0034c0152 a0035c0151 a0036c0150 others(1): Show a0034c0152 a0035c0151 a0036c0150 a0037c0149	a0034c0152t0014 a0035c0151t0007 a0036c0150t0007 others(1): Show a0034c0152t0014 a0035c0151t0007 a0036c0150t0007 a0037c0149t0006	a0034c0152t0014g0185 a0035c0151t0007g0186 a0036c0150t0007g0189 others(1): Show a0034c0152t0014g0185 a0035c0151t0007g0186 a0036c0150t0007g0189 a0037c0149t0006g0079	4	249	0.0161	-33	c.135 others(52): Show c.13530-811_13530-779delAATGGTAATGGTGATGGTGATGATGG TGGTGGC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24			chr3	TogoVar
MUSK_chr9_110663791_110811558	110681034	TATTATAT others(26): Show TATTATATAATATATATTATATATTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0091 a0001c0001t0030g0091	1	326	0.0031	-33	c.80- others(48): Show c.80-1637_80-1605delTATATAATATATATTATATATTATATATAT AAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYADM_chr19_53862883_53881435	53878635	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 NA18954.hp2 NA19081.hp1 others(1): Show HG00544.hp2 NA18954.hp2 NA19081.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0028g0047 a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0028g0047	4	378	0.0106	-33	c.41 others(44): Show c.4138_*4170delAAAAAAAAAAAAAAAATATATATATATATATAT	MYADM	ENSG00000179820.16	transcript	ENST00000391770.9	protein_coding		2201		chr19	TogoVar
MYBL2_chr20_43662114_43721482	43678067	TGCAAGAT others(26): Show TGCAAGATGTGCTTTGTTAAACAGACGCTTGAAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	274	0.0037	-33	c.115 others(50): Show c.115-3713_115-3681delAGATGTGCTTTGTTAAACAGACGCTTGA AGGCA	MYBL2	ENSG00000101057.16	transcript	ENST00000217026.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYBPC1_chr12_101589971_101691028	101591837	CCTTCTCC others(26): Show CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 NA19043.hp2 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0002 a0001c0006t0002g0003 a0001c0006t0002g0002 a0001c0006t0002g0003	2	360	0.0056	-33	c.-32 others(44): Show c.-3233_-3201delCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTT	MYBPC1	ENSG00000196091.15	transcript	ENST00000361466.7	protein_coding		3133		chr12	TogoVar
MYH10_chr17_8469224_8635725	8634426	AAAATAGT others(26): Show AAAATAGTTTGGTGGTTTCTTAAAAAGTTAAATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0133	1	274	0.0037	-33	c.-38 others(44): Show c.-3837_-3805delCATTTAACTTTTTAAGAAACCACCAAACTATTT	MYH10	ENSG00000133026.14	transcript	ENST00000360416.8	protein_coding		3702		chr17	TogoVar
MYL12B_chr18_3257133_3283461	3282002	CCAGAATC others(26): Show CCAGAATCTCAGCTTGGCTCCAGTGGCTTTTACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	430	0.0023	-33	c.40 others(44): Show c.4066_*4098delCAGAATCTCAGCTTGGCTCCAGTGGCTTTTACA	MYL12B	ENSG00000118680.14	transcript	ENST00000237500.10	protein_coding		3542		chr18	TogoVar
MYO16_chr13_108624611_109213005	109022698	TTATATAT others(26): Show TTATATATTATATATACGCATATAAACATATGTA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0038 a0005c0038	a0005c0038t0001 a0005c0038t0001	a0005c0038t0001g0044 a0005c0038t0001g0044	1	152	0.0066	-33	c.279 others(52): Show c.2796+2793_2796+2825delATTATATATACGCATATAAACATATG TATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO18B_chr22_25737188_26036045	25990694	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0043 a0043	a0043c0115 a0043c0115	a0043c0115t0001 a0043c0115t0001	a0043c0115t0001g0150 a0043c0115t0001g0150	1	228	0.0044	-33	c.615 others(52): Show c.6157-1657_6157-1625delAAAAAAAAAAAAAAAGAAAAAGAAAA AAAAAAA	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	39/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO1E_chr15_59127434_59377871	59139204	TTCATTAT others(26): Show TTCATTATTACTCCTTAGACTTCCCTCCCATCCC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	226	0.0044	-33	c.308 others(50): Show c.3081-870_3081-838delGGGATGGGAGGGAAGTCTAAGGAGTAAT AATGA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	26/27			chr15	TogoVar
MYO1G_chr7_44957662_44984015	44961590	AGGGGCTG others(26): Show AGGGGCTGAGGGGTTGAGGAGGCTGAGGGCTGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	378	0.0027	-33	c.11 others(44): Show c.1116_*1148delCTCAGCCCTCAGCCTCCTCAACCCCTCAGCCCC	MYO1G	ENSG00000136286.16	transcript	ENST00000258787.12	protein_coding		1071		chr7	TogoVar
MYO1H_chr12_109342900_109453379	109449942	CTGCCCAA others(26): Show CTGCCCAATACACGATTTTGACATTCAGTCATGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0097 a0001c0005t0003g0097	1	312	0.0032	-33	c.27 others(44): Show c.2761_*2793delTGCCCAATACACGATTTTGACATTCAGTCATGA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding		1564		chr12	TogoVar
MYOM2_chr8_2040046_2150456	2041512	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03927.hp1 HG03927.hp2 HG03471.hp1 HG03927.hp1 HG03927.hp2	a0001 a0002 a0051 a0001 a0002 a0051	a0001c0024 a0002c0006 a0051c0190 a0001c0024 a0002c0006 a0051c0190	a0001c0024t0002 a0002c0006t0001 a0051c0190t0001 a0001c0024t0002 a0002c0006t0001 a0051c0190t0001	a0001c0024t0002g0302 a0002c0006t0001g0044 a0051c0190t0001g0207 a0001c0024t0002g0302 a0002c0006t0001g0044 a0051c0190t0001g0207	3	403	0.0074	-33	c.-36 others(44): Show c.-3668_-3636delTATATATATATATATATATATATATATATATAT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding		3533		chr8	TogoVar
MYOM2_chr8_2040046_2150456	2138950	TCCGACAC others(26): Show TCCGACACACACTGCCAGCACCACCACCAGAGAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01074.hp1 HG01243.hp2 others(29): Show HG00597.hp2 HG01074.hp1 HG01243.hp2 HG01433.hp1 HG02074.hp2 HG02083.hp1 HG02155.hp2 HG02486.hp2 HG02683.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03710.hp1 NA18944.hp1 NA18947.hp1 NA18951.hp1 NA18955.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18979.hp2 NA18987.hp1 NA19000.hp1 NA19002.hp2 NA19009.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp1 NA19074.hp1 NA19084.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0015 a0017 a0050 a0052 a0060	a0001c0002 a0001c0003 a0001c0014 others(21): Show a0001c0002 a0001c0003 a0001c0014 a0001c0084 a0001c0091 a0002c0016 a0002c0017 a0002c0025 a0002c0093 a0003c0004 a0004c0007 a0004c0051 a0004c0158 a0004c0159 a0005c0005 a0006c0205 a0009c0012 a0010c0207 a0015c0057 a0015c0209 a0017c0026 a0050c0213 a0052c0186 a0060c0149	a0001c0002t0001 a0001c0003t0004 a0001c0014t0001 others(21): Show a0001c0002t0001 a0001c0003t0004 a0001c0014t0001 a0001c0084t0001 a0001c0091t0001 a0002c0016t0001 a0002c0017t0001 a0002c0025t0001 a0002c0093t0001 a0003c0004t0001 a0004c0007t0001 a0004c0051t0001 a0004c0158t0002 a0004c0159t0001 a0005c0005t0004 a0006c0205t0001 a0009c0012t0001 a0010c0207t0001 a0015c0057t0001 a0015c0209t0004 a0017c0026t0001 a0050c0213t0005 a0052c0186t0001 a0060c0149t0001	a0001c0002t0001g0216 a0001c0003t0004g0252 a0001c0014t0001g0026 others(29): Show a0001c0002t0001g0216 a0001c0003t0004g0252 a0001c0014t0001g0026 a0001c0014t0001g0329 a0001c0084t0001g0350 a0001c0091t0001g0328 a0002c0016t0001g0037 a0002c0016t0001g0038 a0002c0016t0001g0246 a0002c0017t0001g0233 a0002c0025t0001g0298 a0002c0093t0001g0230 a0003c0004t0001g0129 a0003c0004t0001g0130 a0004c0007t0001g0284 a0004c0007t0001g0289 a0004c0051t0001g0360 a0004c0158t0002g0380 a0004c0159t0001g0041 a0005c0005t0004g0281 a0005c0005t0004g0287 a0006c0205t0001g0187 a0009c0012t0001g0374 a0010c0207t0001g0150 a0015c0057t0001g0165 a0015c0209t0004g0161 a0017c0026t0001g0218 a0017c0026t0001g0259 a0017c0026t0001g0375 a0050c0213t0005g0145 a0052c0186t0001g0057 a0060c0149t0001g0195	32	403	0.0794	-33	c.380 others(52): Show c.3801-1639_3801-1607delCGACACACACTGCCAGCACCACCACC AGAGACC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	32/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM3_chr1_24051041_24117135	24113303	TCTTTCTT others(26): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0352 a0009c0012t0001g0352	1	364	0.0028	-33	c.-13 others(44): Show c.-1324_-1292delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding		1169		chr1	TogoVar
MYT1L_chr2_1784113_2336275	1834761	AATACAGG others(26): Show AATACAGGTACTCCTCCACATACCACGGGGATGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp1 HG02886.hp1 others(3): Show HG01109.hp1 HG02572.hp1 HG02886.hp1 HG03453.hp1 HG03471.hp1 NA20129.hp2	a0001 a0001	a0001c0008 a0001c0009 a0001c0012 a0001c0008 a0001c0009 a0001c0012	a0001c0008t0001 a0001c0008t0002 a0001c0009t0006 others(2): Show a0001c0008t0001 a0001c0008t0002 a0001c0009t0006 a0001c0009t0008 a0001c0012t0014	a0001c0008t0001g0036 a0001c0008t0001g0091 a0001c0008t0002g0093 others(3): Show a0001c0008t0001g0036 a0001c0008t0001g0091 a0001c0008t0002g0093 a0001c0009t0006g0075 a0001c0009t0008g0007 a0001c0012t0014g0004	6	104	0.0577	-33	c.308 others(52): Show c.3080+4355_3080+4387delCCATCCCCGTGGTATGTGGAGGAGTA CCTGTAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	21/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	1834872	CCTCCACA others(26): Show CCTCCACATACCATGGGGATGGATACAGGTACTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0096 a0001c0003t0010g0096	1	104	0.0096	-33	c.308 others(52): Show c.3080+4244_3080+4276delAAGTACCTGTATCCATCCCCATGGTA TGTGGAG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	21/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2236757	TTTCTTCT others(26): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA19065.hp2 HG02135.hp1 NA19065.hp2	a0001 a0003 a0001 a0003	a0001c0007 a0003c0010 a0001c0007 a0003c0010	a0001c0007t0006 a0003c0010t0009 a0001c0007t0006 a0003c0010t0009	a0001c0007t0006g0080 a0003c0010t0009g0013 a0001c0007t0006g0080 a0003c0010t0009g0013	2	104	0.0192	-33	c.-42 others(54): Show c.-421+47614_-421+47646delGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2236784	CTTCTTCT others(26): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG02818.hp1 HG02615.hp2 HG02647.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0010 a0001c0003t0001 a0001c0005t0012 a0001c0001t0010 a0001c0003t0001 a0001c0005t0012	a0001c0001t0010g0034 a0001c0003t0001g0067 a0001c0005t0012g0092 a0001c0001t0010g0034 a0001c0003t0001g0067 a0001c0005t0012g0092	3	104	0.0289	-33	c.-42 others(54): Show c.-421+47587_-421+47619delAAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYZAP_chr15_57586904_57690364	57689328	TGTATATA others(26): Show TGTATATAATATATACGTATATATATTATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(185): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp1 HG03942.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0003 a0001c0007 others(5): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004 a0002c0009 a0005c0010 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0017 a0001c0007t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0004t0001 a0002c0004t0002 a0002c0009t0002 a0005c0010t0001 a0007c0011t0002	a0001c0001t0001g0013 a0001c0001t0001g0161 a0001c0001t0001g0162 others(181): Show a0001c0001t0001g0013 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0002g0154 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0004g0243 a0001c0001t0009g0202 a0001c0001t0009g0215 a0001c0001t0013g0267 a0001c0001t0015g0160 a0001c0003t0001g0172 a0001c0003t0001g0228 a0001c0003t0001g0238 a0001c0003t0002g0002 a0001c0003t0002g0018 a0001c0003t0002g0019 a0001c0003t0002g0020 a0001c0003t0002g0021 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0025 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0031 a0001c0003t0002g0032 a0001c0003t0002g0035 a0001c0003t0002g0036 a0001c0003t0002g0038 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0046 a0001c0003t0002g0048 a0001c0003t0002g0061 a0001c0003t0002g0065 a0001c0003t0002g0076 a0001c0003t0003g0119 a0001c0003t0003g0130 a0001c0003t0003g0131 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0003g0135 a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0146 a0001c0003t0003g0148 a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0155 a0001c0003t0003g0156 a0001c0003t0003g0157 a0001c0003t0017g0123 a0001c0007t0003g0129 a0002c0002t0001g0336 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0040 a0002c0002t0002g0045 a0002c0002t0002g0064 a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0082 a0002c0002t0002g0094 a0002c0002t0002g0098 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0344 a0002c0002t0005g0090 a0002c0004t0001g0164 a0002c0004t0001g0205 a0002c0004t0001g0206 a0002c0004t0001g0223 a0002c0004t0001g0298 a0002c0004t0001g0302 a0002c0004t0002g0331 a0002c0009t0002g0037 a0005c0010t0001g0159 a0007c0011t0002g0118	188	352	0.5341	-33	c.48 others(44): Show c.4831_*4863delGTATATAATATATACGTATATATATTATATATA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3965		chr15	TogoVar
NAA10_chrX_153924225_153940037	153928079	CCCGCATG others(26): Show CCCGCATGGGGACGGAGGCTCAGCGGCCGACAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0031 a0004c0003t0005g0031	1	292	0.0034	-33	c.18 others(44): Show c.1875_*1907delCCTGTCGGCCGCTGAGCCTCCGTCCCCATGCGG	NAA10	ENSG00000102030.16	transcript	ENST00000464845.6	protein_coding		1145		chrX	TogoVar
NAA15_chr4_139296505_139396384	139315013	TAGGTTAG others(26): Show TAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01071.hp2 others(6): Show HG00099.hp2 HG01069.hp2 HG01071.hp2 HG01169.hp1 HG01361.hp1 HG02698.hp2 HG03491.hp1 HG03492.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0023 a0001c0001t0002 a0001c0001t0005 a0001c0001t0023	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(6): Show a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0022 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0023g0013	9	334	0.0270	-33	c.54+ others(50): Show c.54+13183_54+13215delAGGTTAGGTTAGGTTAGGTTAGGTTAGG TTAGG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19			chr4	TogoVar
NAA80_chr3_50291402_50304405	50302778	GCTACCAC others(26): Show GCTACCACATCGAAGACACTGACATCCACGTCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	-33	c.-38 others(44): Show c.-3808_-3776delTGGACGTGGATGTCAGTGTCTTCGATGTGGTAG	NAA80	ENSG00000243477.6	transcript	ENST00000443094.3	protein_coding		3374		chr3	TogoVar

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