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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MAPK11_chr22_50258713_50275380	50265879	ACCCAGCC others(40): Show ACCCAGCCCACCCCCACTGCCCTGGCCAGGCACTGCTTGCTGGGGTCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01891.hp1 HG02647.hp2 others(12): Show HG00140.hp2 HG01891.hp1 HG02647.hp2 HG02818.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03942.hp1 HG04115.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0098 a0001c0001t0002g0023 a0001c0001t0002g0063 others(4): Show a0001c0001t0001g0098 a0001c0001t0002g0023 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0004g0034 a0001c0003t0001g0014 a0001c0003t0001g0119	15	428	0.0351	-47	c.763 others(62): Show c.763-266_763-220delGGACCCCAGCAAGCAGTGCCTGGCCAGGGC AGTGGGGGTGGGCTGGG		MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding	9/11						chr22	TogoVar
MAPK12_chr22_50247901_50266683	50265879	ACCCAGCC others(40): Show ACCCAGCCCACCCCCACTGCCCTGGCCAGGCACTGCTTGCTGGGGTCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01891.hp2 HG02647.hp2 others(12): Show HG00140.hp2 HG01891.hp2 HG02647.hp2 HG02818.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03942.hp1 HG04115.hp1 NA19030.hp1 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0009c0016	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0003t0002 a0009c0016t0005	a0001c0001t0001g0026 a0001c0001t0005g0060 a0001c0002t0001g0008 others(3): Show a0001c0001t0001g0026 a0001c0001t0005g0060 a0001c0002t0001g0008 a0001c0002t0001g0012 a0001c0003t0002g0009 a0009c0016t0005g0059	15	444	0.0338	-47	c.-44 others(58): Show c.-4417_-4371delGGACCCCAGCAAGCAGTGCCTGGCCAGGGCAGTG GGGGTGGGCTGGG		MAPK12	ENSG00000188130.14	transcript	ENST00000215659.13	protein_coding					4197		chr22	TogoVar
MAPK6_chr15_52014219_52072375	52062809	CTGCTTCA others(40): Show CTGCTTCAGAGTAGGATGGTAGCTTATAGAGTCATCAGGTGATTTTGA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03195.hp1 others(3): Show HG02896.hp2 HG02897.hp2 HG03195.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 a0001c0002t0053	a0001c0001t0001g0297 a0001c0001t0002g0137 a0001c0001t0002g0138 others(3): Show a0001c0001t0001g0297 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0025g0134 a0001c0001t0025g0144 a0001c0002t0053g0042	6	356	0.0169	-47	c.106 others(65): Show c.1068-1043_1068-997delCTTCAGAGTAGGATGGTAGCTTATAGA GTCATCAGGTGATTTTGATG		MAPK6	ENSG00000069956.14	transcript	ENST00000261845.7	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
MARS1_chr12_57483068_57521652	57507615	CCCCCCAC others(40): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGTCTGG	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	288	0.0035	-47	c.136 others(66): Show c.1368+3322_1368+3368delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGTCTGGCCCCC		MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	11/20					INFO_REALIGN_3_PRIME	chr12	TogoVar
MARS1_chr12_57483068_57521652	57507663	CCCCCCAC others(40): Show CCCCCCACCTCCCTCCCGGACGGGACGGCTGGCCGGGCGGGGGTCTGG	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0102 a0001c0013t0001g0102	1	288	0.0035	-47	c.136 others(66): Show c.1368+3370_1368+3416delACCTCCCTCCCGGACGGGACGGCTGG CCGGGCGGGGGTCTGGCCCCC		MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	11/20					INFO_REALIGN_3_PRIME	chr12	TogoVar
MBD3L5_chr19_7025578_7038011	7034784	TTTATATG others(40): Show TTTATATGTTATTTAATTATATTATAAATTATAATATAATTTATATAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	249	0.0040	-47	c.18 others(58): Show c.1891_*1937delTTATATGTTATTTAATTATATTATAAATTATAAT ATAATTTATATAG		MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding					1774		chr19	TogoVar
MCC_chr5_113017106_113493453	113220039	GAATCTGC others(40): Show GAATCTGCATGTCAATTTCTTTTTCTTTTTTTTTTTTGAGACGGAGTC	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0008 a0008	a0008c0053 a0008c0053	a0008c0053t0001 a0008c0053t0001	a0008c0053t0001g0114 a0008c0053t0001g0114	1	160	0.0063	-47	c.628 others(66): Show c.628-68664_628-68618delGACTCCGTCTCAAAAAAAAAAAAGAA AAAGAAATTGACATGCAGATT		MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18						chr5	TogoVar
MECOM_chr3_169078507_169668712	169191719	AAAAAGAA others(40): Show AAAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp1 HG02258.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0038 a0001c0001t0005 a0001c0001t0038	a0001c0001t0005g0104 a0001c0001t0038g0091 a0001c0001t0005g0104 a0001c0001t0038g0091	2	160	0.0125	-47	c.376 others(66): Show c.376-47934_376-47888delCTTTCTTTCTTTCTTTCTTTCTTTCT CTTTCTTTCTTTCTTTCTTTT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16						chr3	TogoVar
MEF2B_chr19_19140567_19175263	19147006	CTCACCCC others(40): Show CTCACCCCTGCCCCACTGTCCCATGCTCACCTGGGGGCCCGGCTTTGG	C C	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18989.hp1 NA18989.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0240 a0008c0010t0001g0240	1	404	0.0025	-47	c.524 others(57): Show c.524_541+29delCCAAAGCCGGGCCCCCAGGTGAGCATGGGACAGTG GGGCAGGGGTGA	p.Pro others(19): Show p.Pro175_Gly181delinsArg	MEF2B	ENSG00000213999.17	transcript	ENST00000424583.7	protein_coding	5/9		524/1107	175/368			chr19	TogoVar
MELTF_chr3_196996740_197034817	197000594	GTGTGCCA others(40): Show GTGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	420	0.0024	-47	c.27 others(58): Show c.2731_*2777delTGGCATAGAGTCTAAGACACAAAACACTCAGCAC AGTGCTTGGCACA		MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding					1145		chr3	TogoVar
MELTF_chr3_196996740_197034817	197000641	ATGTGCCA others(40): Show ATGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(174): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19006.hp2 NA19010.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0006 a0009 a0011 a0012 a0016 a0017 a0020	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0014 a0001c0022 a0002c0004 a0002c0034 a0004c0006 a0004c0035 a0006c0010 a0006c0027 a0009c0011 a0011c0028 a0012c0023 a0016c0026 a0017c0025 a0020c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0048 a0001c0001t0052 a0001c0001t0053 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0017 a0001c0002t0026 a0001c0002t0028 a0001c0002t0031 a0001c0002t0040 a0001c0002t0042 a0001c0002t0055 a0001c0003t0001 a0001c0003t0017 a0001c0003t0019 a0001c0013t0009 a0001c0014t0003 a0001c0022t0003 a0002c0004t0001 a0002c0004t0002 a0002c0034t0009 a0004c0006t0020 a0004c0035t0001 a0006c0010t0001 a0006c0027t0001 a0009c0011t0008 a0009c0011t0018 a0011c0028t0041 a0012c0023t0001 a0016c0026t0012 a0017c0025t0001 a0020c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(132): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0065 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0132 a0001c0001t0001g0146 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0253 a0001c0001t0001g0261 a0001c0001t0001g0274 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0002g0002 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0003g0093 a0001c0001t0005g0003 a0001c0001t0005g0072 a0001c0001t0006g0073 a0001c0001t0006g0115 a0001c0001t0007g0074 a0001c0001t0007g0083 a0001c0001t0008g0172 a0001c0001t0008g0196 a0001c0001t0008g0260 a0001c0001t0010g0191 a0001c0001t0011g0165 a0001c0001t0011g0238 a0001c0001t0012g0020 a0001c0001t0012g0104 a0001c0001t0014g0007 a0001c0001t0015g0270 a0001c0001t0016g0039 a0001c0001t0016g0227 a0001c0001t0016g0282 a0001c0001t0016g0283 a0001c0001t0016g0285 a0001c0001t0018g0243 a0001c0001t0022g0038 a0001c0001t0024g0144 a0001c0001t0024g0228 a0001c0001t0024g0266 a0001c0001t0030g0046 a0001c0001t0032g0176 a0001c0001t0033g0173 a0001c0001t0034g0189 a0001c0001t0035g0120 a0001c0001t0036g0130 a0001c0001t0038g0203 a0001c0001t0039g0277 a0001c0001t0048g0069 a0001c0001t0052g0284 a0001c0001t0053g0192 a0001c0002t0001g0008 a0001c0002t0001g0017 a0001c0002t0001g0040 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0110 a0001c0002t0001g0119 a0001c0002t0001g0125 a0001c0002t0001g0155 a0001c0002t0001g0163 a0001c0002t0001g0230 a0001c0002t0001g0242 a0001c0002t0001g0286 a0001c0002t0004g0251 a0001c0002t0004g0287 a0001c0002t0009g0143 a0001c0002t0017g0139 a0001c0002t0026g0160 a0001c0002t0028g0124 a0001c0002t0028g0154 a0001c0002t0031g0234 a0001c0002t0040g0156 a0001c0002t0042g0157 a0001c0002t0055g0248 a0001c0003t0001g0015 a0001c0003t0001g0102 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0017g0222 a0001c0003t0019g0018 a0001c0013t0009g0121 a0001c0014t0003g0304 a0001c0022t0003g0091 a0002c0004t0001g0109 a0002c0004t0002g0031 a0002c0034t0009g0114 a0004c0006t0020g0211 a0004c0035t0001g0275 a0006c0010t0001g0183 a0006c0010t0001g0184 a0006c0027t0001g0136 a0009c0011t0008g0127 a0009c0011t0018g0245 a0011c0028t0041g0233 a0012c0023t0001g0187 a0016c0026t0012g0068 a0017c0025t0001g0206 a0020c0019t0001g0168	177	420	0.4214	-47	c.26 others(58): Show c.2684_*2730delCGGCATAGAGTCTAAGACACAAAACACTCAGCAC AGTGCTTGGCACA		MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding					1098		chr3	TogoVar
METTL27_chr7_73829590_73847516	73836217	GGGAGGGA others(40): Show GGGAGGGAGGTGGGGGCATCAGCCCCCCGCCCGGCCAGCCGCCCCGTC	G G	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	372	0.0027	-47	c.479 others(64): Show c.479-1262_479-1216delGACGGGGCGGCTGGCCGGGCGGGGGGCT GATGCCCCCACCTCCCTCC		METTL27	ENSG00000165171.11	transcript	ENST00000297873.9	protein_coding	5/5						chr7	TogoVar
MFSD6_chr2_190403355_190507314	190430800	CCCCCCCA others(40): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02083.hp2 HG02683.hp2 others(3): Show HG01106.hp1 HG02083.hp2 HG02683.hp2 HG02698.hp1 HG03834.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0130 a0001c0001t0002g0129 a0001c0001t0002g0131 others(3): Show a0001c0001t0001g0130 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0003g0059	6	344	0.0174	-47	c.-53 others(64): Show c.-53-5147_-53-5101delCGGCCGGGCGGGGGCTGACCCCCCACCT CCCTCCCGGACGGGGCGGC		MFSD6	ENSG00000151690.15	transcript	ENST00000392328.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAT4C_chr12_85950667_86261391	86187523	TTTTTAGA others(40): Show TTTTTAGATTTGCCTTTTCTAGAATGTCACATAATAATAAATCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0064 a0001c0001t0086g0064	1	186	0.0054	-47	c.-57 others(66): Show c.-57+68669_-57+68715delGGAAAGATTTATTATTATGTGACATT CTAGAAAAGGCAAATCTAAAA		MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4						chr12	TogoVar
MGAT5_chr2_134249072_134459621	134381335	ATAGATAG others(40): Show ATAGATAGATAGATAGATAGATAGATAGATAGATAAGATAAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0004 a0001c0001t0087g0004	1	282	0.0036	-47	c.138 others(68): Show c.1380+18962_1380+19008delAGATAAGATAGATTAGATAGATAG ATAGATAGATAGATAGATAGATA		MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MIA2_chr14_39228915_39355694	39277715	TGTGTGTA others(40): Show TGTGTGTATATATATATATATATATATATGTGTGTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0002	a0007c0010t0002g0130 a0007c0010t0002g0130	1	368	0.0027	-47	c.201 others(64): Show c.2019+651_2019+697delGTGTGTATATATATATATATATATATAT GTGTGTATATATATATATA		MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	7/28						chr14	TogoVar
MIB2_chr1_1610500_1635605	1627517	GCCGGCGG others(40): Show GCCGGCGGGGCTGAGCCTGTGCGTCCTGGGGTGAGGCCTGGGAGGGGC	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0130 a0001c0006t0002g0130	1	412	0.0024	-47	c.152 others(63): Show c.1523+105_1524-78delGAGGCCTGGGAGGGGCCCGGCGGGGCTGA GCCTGTGCGTCCTGGGGT		MIB2	ENSG00000197530.13	transcript	ENST00000355826.10	protein_coding	12/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
MMP16_chr8_88027011_88332483	88209622	ACTGTATG others(40): Show ACTGTATGTATTCTACTCTCTCTATGTATTCTACTCTCTCTATGTATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18999.hp1 NA18999.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0002c0006 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0052 a0001c0002t0031 a0001c0003t0020 a0001c0004t0011 a0001c0007t0051 a0001c0008t0054 a0002c0006t0001 a0003c0005t0003	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0014 others(148): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0155 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0003g0022 a0001c0001t0003g0033 a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0060 a0001c0001t0003g0065 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0116 a0001c0001t0003g0138 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0004g0005 a0001c0001t0004g0062 a0001c0001t0004g0089 a0001c0001t0004g0092 a0001c0001t0004g0137 a0001c0001t0004g0142 a0001c0001t0004g0164 a0001c0001t0004g0169 a0001c0001t0005g0012 a0001c0001t0005g0023 a0001c0001t0005g0025 a0001c0001t0005g0034 a0001c0001t0005g0067 a0001c0001t0005g0113 a0001c0001t0005g0123 a0001c0001t0005g0174 a0001c0001t0006g0016 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0097 a0001c0001t0006g0112 a0001c0001t0006g0124 a0001c0001t0006g0129 a0001c0001t0006g0159 a0001c0001t0007g0051 a0001c0001t0007g0052 a0001c0001t0007g0066 a0001c0001t0007g0141 a0001c0001t0007g0156 a0001c0001t0007g0166 a0001c0001t0007g0171 a0001c0001t0008g0030 a0001c0001t0008g0054 a0001c0001t0008g0086 a0001c0001t0008g0090 a0001c0001t0008g0136 a0001c0001t0009g0037 a0001c0001t0009g0096 a0001c0001t0009g0099 a0001c0001t0009g0139 a0001c0001t0010g0040 a0001c0001t0010g0063 a0001c0001t0010g0073 a0001c0001t0011g0057 a0001c0001t0011g0058 a0001c0001t0012g0121 a0001c0001t0013g0031 a0001c0001t0013g0125 a0001c0001t0014g0101 a0001c0001t0014g0173 a0001c0001t0015g0024 a0001c0001t0015g0168 a0001c0001t0016g0131 a0001c0001t0018g0127 a0001c0001t0021g0044 a0001c0001t0022g0128 a0001c0001t0023g0083 a0001c0001t0024g0115 a0001c0001t0025g0053 a0001c0001t0026g0158 a0001c0001t0027g0064 a0001c0001t0028g0105 a0001c0001t0029g0110 a0001c0001t0030g0111 a0001c0001t0032g0015 a0001c0001t0033g0109 a0001c0001t0034g0032 a0001c0001t0035g0119 a0001c0001t0037g0029 a0001c0001t0038g0047 a0001c0001t0039g0135 a0001c0001t0041g0035 a0001c0001t0042g0056 a0001c0001t0045g0157 a0001c0001t0046g0106 a0001c0001t0047g0120 a0001c0001t0048g0178 a0001c0001t0050g0108 a0001c0001t0052g0003 a0001c0002t0031g0084 a0001c0003t0020g0150 a0001c0004t0011g0049 a0001c0007t0051g0018 a0001c0008t0054g0186 a0002c0006t0001g0161 a0003c0005t0003g0107	151	186	0.8118	-47	c.133 others(66): Show c.133-12363_133-12317delAATACATAGAGAGAGTAGAATACATA GAGAGAGTAGAATACATACAG		MMP16	ENSG00000156103.16	transcript	ENST00000286614.11	protein_coding	1/9						chr8	TogoVar
MMP23B_chr1_1627173_1639654	1627517	GCCGGCGG others(40): Show GCCGGCGGGGCTGAGCCTGTGCGTCCTGGGGTGAGGCCTGGGAGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	432	0.0023	-47	c.-47 others(58): Show c.-4701_-4655delCCGGCGGGGCTGAGCCTGTGCGTCCTGGGGTGAG GCCTGGGAGGGGC		MMP23B	ENSG00000189409.14	transcript	ENST00000356026.10	protein_coding					4655		chr1	TogoVar
MNS1_chr15_56423724_56470137	56453942	TTAGGACA others(40): Show TTAGGACACATTTTAAGCACCAGAGCAGTTCCCTGAATTTAGACATGC	T T	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0105 a0003c0003t0001g0105	1	414	0.0024	-47	c.353 others(64): Show c.353+2405_353+2451delGCATGTCTAAATTCAGGGAACTGCTCTG GTGCTTAAAATGTGTCCTA		MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	3/9						chr15	TogoVar
MRPL41_chr9_137546879_137557555	137551686	CCCGCGAG others(40): Show CCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	-47	c.-30 others(56): Show c.-300_-254delCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGC CCCGCCCCGCG		MRPL41	ENSG00000182154.8	transcript	ENST00000371443.6	protein_coding					192		chr9	TogoVar
MRTFA_chr22_40405289_40641719	40450084	TAGATAGG others(40): Show TAGATAGGATTTTTCTTAGGATTCCATATCCGGGTAGATCAGAATCTC	T T	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	256	0.0039	-47	c.307 others(66): Show c.307+13090_307+13136delGAGATTCTGATCTACCCGGATATGGA ATCCTAAGAAAAATCCTATCT		MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	4/14					WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40501322	GAGGGCTG others(40): Show GAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02258.hp2 others(9): Show HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG03130.hp2 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0010 others(1): Show a0001c0002 a0001c0003 a0001c0010 a0001c0012	a0001c0002t0001 a0001c0003t0001 a0001c0010t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0010t0001 a0001c0012t0001	a0001c0002t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0009 others(9): Show a0001c0002t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0010t0001g0005 a0001c0012t0001g0002 a0001c0012t0001g0003 a0001c0012t0001g0004	12	256	0.0469	-47	c.242 others(66): Show c.242-38083_242-38037delGCCCGGCCAGCCGCCCTGTCCGGGAG GGAGGTGGGGGGGTCAGCCCT		MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14					WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MS4A1_chr11_60450847_60475752	60451551	GGGGGGTC others(40): Show GGGGGGTCAGTCCCCCGCCAGGCCAGCCGCCCCATCCGGGAGGGAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02145.hp1 HG02622.hp2 others(3): Show HG01261.hp2 HG02145.hp1 HG02622.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0001t0001 a0001c0001t0007 a0001c0001t0014	a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0007g0067 others(1): Show a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0007g0067 a0001c0001t0014g0022	6	446	0.0135	-47	c.-46 others(58): Show c.-4673_-4627delGGGGGTCAGTCCCCCGCCAGGCCAGCCGCCCCAT CCGGGAGGGAGGT		MS4A1	ENSG00000156738.18	transcript	ENST00000345732.9	protein_coding					4295		chr11	TogoVar
MS4A5_chr11_60424572_60452792	60451551	GGGGGGTC others(40): Show GGGGGGTCAGTCCCCCGCCAGGCCAGCCGCCCCATCCGGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02145.hp1 HG02622.hp2 others(3): Show HG01261.hp2 HG02145.hp1 HG02622.hp2 HG03139.hp2 HG03195.hp1 HG03471.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0059 a0001c0001t0001g0219 a0003c0006t0001g0050 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0219 a0003c0006t0001g0050 a0003c0006t0001g0147	6	462	0.0130	-47	c.37 others(58): Show c.3793_*3839delGGGGGTCAGTCCCCCGCCAGGCCAGCCGCCCCAT CCGGGAGGGAGGT		MS4A5	ENSG00000166930.7	transcript	ENST00000300190.7	protein_coding					3760		chr11	TogoVar
MS4A7_chr11_60373532_60400948	60398421	TTATGAGT others(40): Show TTATGAGTGGCACTCATCTAGATAATCATATAGCCATAAATATTATTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0003 a0001c0003t0003g0003	1	414	0.0024	-47	c.45 others(58): Show c.4561_*4607delTATGAGTGGCACTCATCTAGATAATCATATAGCC ATAAATATTATTC		MS4A7	ENSG00000166927.13	transcript	ENST00000300184.8	protein_coding					2474		chr11	TogoVar
MSLN_chr16_755734_773862	767658	GGGGGAGC others(40): Show GGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGTGT	G G	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA19005.hp2 HG03927.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0154 a0001c0001t0001g0071 a0001c0001t0001g0154	2	388	0.0052	-47	c.159 others(64): Show c.1596+193_1596+239delAGCGTGGGGGGCGTGGAGGAGGGGCGCG TGGAGGGGGGAGTGTGGGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	769177	CCCCGGCC others(40): Show CCCCGGCCCCGGCCCCAGCCCCAACCCCAACCCCAACCCCGGCCCCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0264 a0004c0017t0001g0264	1	388	0.0026	-47	c.44 others(56): Show c.445_*491delCCCGGCCCCGGCCCCAGCCCCAACCCCAACCCCAAC CCCGGCCCCGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding					316		chr16	TogoVar
MSR1_chr8_16102881_16197651	16182047	ACTGCTGC others(40): Show ACTGCTGCTAGGCAACAAACCCACCCCAGGCTGTGTGGTCTAGCCTAT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	330	0.0030	-47	c.-4- others(62): Show c.-4-4102_-4-4056delATAGGCTAGACCACACAGCCTGGGGTGGGT TTGTTGCCTAGCAGCAG		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9						chr8	TogoVar
MTHFD1L_chr6_150860702_151106887	150871031	TTTATATA others(40): Show TTTATATATATACCTTATAATATATATACCTTAATATATATACCTTAA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0015 a0001c0003t0001g0015	1	226	0.0044	-47	c.227 others(64): Show c.227+4995_228-5000delCTTATAATATATATACCTTAATATATAT ACCTTAATTATATATATAC		MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr6	TogoVar
MTM1_chrX_150563621_150678143	150583515	TATATATA others(40): Show TATATATATTATATATAAATTATATATATTATACATAATTTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA20300.hp1 HG02886.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0147 a0001c0001t0005g0148 a0001c0001t0001g0147 a0001c0001t0005g0148	2	277	0.0072	-47	c.-10 others(64): Show c.-10-9082_-10-9036delTTATATATAAATTATATATATTATACAT AATTTATATATAATATATA		MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chrX	TogoVar
MUC4_chr3_195741771_195816929	195782461	GGGGTGGC others(40): Show GGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGA	G G	frameshift_variant frameshift_variant	HIGH	NA18955.hp1 NA18955.hp1	a0064 a0064	a0064c0195 a0064c0195	a0064c0195t0003 a0064c0195t0003	a0064c0195t0003g0207 a0064c0195t0003g0207	1	249	0.0040	-47	c.907 others(56): Show c.9072_9118delTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGG TCACGCCACCC	p.Leu others(6): Show p.Leu3025fs	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	9230/16756	9072/16239	3024/5412			chr3	TogoVar
MUC5AC_chr11_1152953_1206138	1159785	TCCCACCA others(40): Show TCCCACCATGCTGGCTCTGTGCAGGGCTGTGCAGGGCTGGCGTCTGGC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0035 a0035	a0035c0119 a0035c0119	a0035c0119t0001 a0035c0119t0001	a0035c0119t0001g0073 a0035c0119t0001g0073	1	292	0.0034	-47	c.74- others(60): Show c.74-813_74-767delCTCTGTGCAGGGCTGTGCAGGGCTGGCGTCTG GCCCCACCATGCTGG		MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	1/48					INFO_REALIGN_3_PRIME	chr11	TogoVar
MYO1G_chr7_44957662_44984015	44961454	GGGGGTTG others(40): Show GGGGGTTGAGGGGGCTGGGGGCTGAGGGCTGAGGGGGTTAAGGGCTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	378	0.0027	-47	c.12 others(58): Show c.1238_*1284delTCAGCCCTTAACCCCCTCAGCCCTCAGCCCCCAG CCCCCTCAACCCC		MYO1G	ENSG00000136286.16	transcript	ENST00000258787.12	protein_coding					1207		chr7	TogoVar
MYO3B_chr2_170173147_170660167	170649096	GTATATTA others(40): Show GTATATTATATATAAAATAATATATAATGTATATAAAATAATATATAA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0169 a0001c0014t0001g0169	1	174	0.0058	-47	c.373 others(66): Show c.3734-2504_3734-2458delGTATATAAAATAATATATAATATATT ATATATAAAATAATATATAAT		MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34					INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO3B_chr2_170173147_170660167	170649142	AATATATT others(40): Show AATATATTATATATAAAATAATATATAATATATTATATATAAAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03209.hp2 HG03471.hp2 others(1): Show HG01891.hp1 HG03209.hp2 HG03471.hp2 NA20129.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0029	a0001c0002 a0004c0013 a0006c0078 others(1): Show a0001c0002 a0004c0013 a0006c0078 a0029c0030	a0001c0002t0001 a0004c0013t0001 a0006c0078t0001 others(1): Show a0001c0002t0001 a0004c0013t0001 a0006c0078t0001 a0029c0030t0001	a0001c0002t0001g0142 a0004c0013t0001g0004 a0006c0078t0001g0111 others(1): Show a0001c0002t0001g0142 a0004c0013t0001g0004 a0006c0078t0001g0111 a0029c0030t0001g0069	4	174	0.0230	-47	c.373 others(66): Show c.3734-2365_3734-2319delATATATTATATATAAAATAATATATA TTATATATAAAATAATATATA		MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34					INFO_REALIGN_3_PRIME	chr2	TogoVar
MYOM2_chr8_2040046_2150456	2100064	CCTTCTTT others(40): Show CCTTCTTTCCTTCCTTTCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG01192.hp2 others(13): Show HG00673.hp1 HG00673.hp2 HG01192.hp2 HG01361.hp1 HG02040.hp1 HG02080.hp1 HG02135.hp1 HG04184.hp2 NA18945.hp1 NA18951.hp1 NA18970.hp2 NA18974.hp1 NA19068.hp2 NA19077.hp2 NA19087.hp1 NA19091.hp2	a0001 a0003 a0006 others(4): Show a0001 a0003 a0006 a0040 a0041 a0052 a0061	a0001c0002 a0001c0009 a0001c0116 others(11): Show a0001c0002 a0001c0009 a0001c0116 a0001c0140 a0003c0001 a0003c0069 a0003c0156 a0003c0164 a0006c0013 a0006c0191 a0040c0060 a0041c0210 a0052c0186 a0061c0166	a0001c0002t0001 a0001c0009t0002 a0001c0116t0001 others(11): Show a0001c0002t0001 a0001c0009t0002 a0001c0116t0001 a0001c0140t0001 a0003c0001t0001 a0003c0069t0001 a0003c0156t0002 a0003c0164t0001 a0006c0013t0005 a0006c0191t0001 a0040c0060t0001 a0041c0210t0001 a0052c0186t0001 a0061c0166t0001	a0001c0002t0001g0383 a0001c0009t0002g0015 a0001c0116t0001g0016 others(13): Show a0001c0002t0001g0383 a0001c0009t0002g0015 a0001c0116t0001g0016 a0001c0140t0001g0181 a0003c0001t0001g0266 a0003c0001t0001g0338 a0003c0001t0001g0351 a0003c0069t0001g0241 a0003c0156t0002g0277 a0003c0164t0001g0101 a0006c0013t0005g0167 a0006c0191t0001g0169 a0040c0060t0001g0345 a0041c0210t0001g0153 a0052c0186t0001g0057 a0061c0166t0001g0222	16	403	0.0397	-47	c.244 others(64): Show c.2441-808_2441-762delCTTTCCTTCCTTTCTTCTTTCCTTCCTT CCTTCCTTCCTTCTTTCTT		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	19/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64173786	CCTGCAGC others(40): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18612.hp1 HG02040.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0023 a0001c0001t0013g0022 a0001c0001t0001g0023 a0001c0001t0013g0022	2	223	0.0090	-47	c.-99 others(64): Show c.-99+9050_-99+9096delGCAGCATCTTTCCCTGTAGTTGTGTCCA TTTCCCCTCCCTGGCTTCT		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64173836	CCTGCAGC others(40): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	223	0.0045	-47	c.-99 others(64): Show c.-99+9100_-99+9146delGCAGCATCTTTCCCTGTAGTTGTGTCCA TTTCCCCTCCCTGGCTTCT		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64173936	CCTGTAGC others(40): Show CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp1 HG02647.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0010 a0001c0001t0013	a0001c0001t0010g0009 a0001c0001t0013g0011 a0001c0001t0010g0009 a0001c0001t0013g0011	2	223	0.0090	-47	c.-99 others(64): Show c.-99+9200_-99+9246delGTAGCATCTTTCCCTGTAGTTGTGTCCA TTCCCCCTCCCTGGCTTCT		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64173954	GTAGTTGT others(40): Show GTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00735.hp2 others(17): Show HG00280.hp1 HG00639.hp1 HG00735.hp2 HG01169.hp1 HG01496.hp1 HG01891.hp1 HG01928.hp1 HG02074.hp1 HG03239.hp2 HG03540.hp1 HG03579.hp2 HG04184.hp1 NA18612.hp2 NA18959.hp1 NA18995.hp1 NA19085.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0011 a0003c0010 a0005c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0025 a0001c0001t0026 a0001c0002t0002 a0001c0003t0007 a0001c0003t0010 a0001c0003t0021 a0001c0005t0003 a0002c0011t0003 a0003c0010t0001 a0005c0012t0001	a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0069 others(17): Show a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0069 a0001c0001t0001g0087 a0001c0001t0001g0134 a0001c0001t0003g0112 a0001c0001t0011g0094 a0001c0001t0011g0121 a0001c0001t0011g0130 a0001c0001t0025g0104 a0001c0001t0026g0055 a0001c0002t0002g0080 a0001c0002t0002g0125 a0001c0003t0007g0151 a0001c0003t0010g0107 a0001c0003t0021g0137 a0001c0005t0003g0050 a0002c0011t0003g0216 a0003c0010t0001g0029 a0005c0012t0001g0218	20	223	0.0897	-47	c.-99 others(64): Show c.-99+9230_-99+9276delCCCCCTCCCTGGCTTCTCCTGTAGCATC TTTCCTAGTTGTGTCCATT		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64173969	CCCCCTCC others(40): Show CCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04204.hp2 HG02735.hp2 HG04204.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0023 a0001c0005t0003 a0001c0005t0023	a0001c0005t0003g0025 a0001c0005t0023g0026 a0001c0005t0003g0025 a0001c0005t0023g0026	2	223	0.0090	-47	c.-99 others(64): Show c.-99+9251_-99+9297delTAGCATCTTTCCTAGTTGTGTCCATTTC CCCTCCCTGGCTTCTCCTG		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174551	GTAGTTGT others(40): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03942.hp1 HG04199.hp1 others(1): Show HG03453.hp2 HG03942.hp1 HG04199.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0008 a0001c0005t0001 a0001c0006t0015 a0001c0001t0008 a0001c0005t0001 a0001c0006t0015	a0001c0001t0008g0016 a0001c0005t0001g0027 a0001c0005t0001g0028 others(1): Show a0001c0001t0008g0016 a0001c0005t0001g0027 a0001c0005t0001g0028 a0001c0006t0015g0024	4	223	0.0179	-47	c.-99 others(64): Show c.-99+9847_-99+9893delGTAGCATCTTTCCTAGTTGTGTCCATTT CCCCTCCCTGGCTTCTCCT		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174651	GTAGTTGT others(40): Show GTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0011 a0001c0001t0013g0011	1	223	0.0045	-47	c.-99 others(64): Show c.-99+9927_-99+9973delCCCCCTCCCTGGCTTCTCCTGTAGCATC TTTCCTAGTTGTGTCCATT		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174666	CCCCCTCC others(40): Show CCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA20905.hp1 NA19043.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0006t0015 a0001c0002t0002 a0001c0006t0015	a0001c0002t0002g0037 a0001c0006t0015g0024 a0001c0002t0002g0037 a0001c0006t0015g0024	2	223	0.0090	-47	c.-99 others(65): Show c.-99+9995_-99+10041delTAGCATCTTTCCTAGTTGTGTCCATTT CCCCTCCCTGGCTTCTCCTG		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174977	CCTGCAGC others(40): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0015 a0001c0006t0015	a0001c0006t0015g0024 a0001c0006t0015g0024	1	223	0.0045	-47	c.-99 others(66): Show c.-99+10241_-99+10287delGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCT		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175077	CCTGCAGC others(40): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02897.hp2 NA18612.hp1 HG02040.hp2 HG02897.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0013 a0001c0002t0006 a0001c0001t0001 a0001c0001t0013 a0001c0002t0006	a0001c0001t0001g0023 a0001c0001t0013g0022 a0001c0002t0006g0018 a0001c0001t0001g0023 a0001c0001t0013g0022 a0001c0002t0006g0018	3	223	0.0135	-47	c.-99 others(66): Show c.-99+10341_-99+10387delGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCT		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175298	GTAGTTGT others(40): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02809.hp1 HG01192.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0014 a0001c0002t0002g0082 a0001c0001t0003g0014 a0001c0002t0002g0082	2	223	0.0090	-47	c.-99 others(66): Show c.-99+10595_-99+10641delTAGCATCTTTCCTAGTTGTGTCCATT TCCCCTCCCTGGCTTCTCCTG		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64235202	CCCCGGGA others(40): Show CCCCGGGATGGTCATGGTGTGTGACCCGGGGCTGGCCGTGGTATGTGA	C C	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0018 a0001c0002t0006g0018	1	223	0.0045	-47	c.289 others(66): Show c.2898-1349_2898-1303delGGGATGGTCATGGTGTGTGACCCGGG GCTGGCCGTGGTATGTGACCC		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57687499	ATGTGTGT others(40): Show ATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02723.hp2 others(1): Show HG02145.hp1 HG02257.hp2 HG02723.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0003t0001g0114 others(1): Show a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0003t0001g0114 a0001c0003t0003g0144	4	352	0.0114	-47	c.30 others(58): Show c.3002_*3048delTGTGTGTACAATATACACATATATATGTGTGTAC AATATACACATAT		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2136		chr15	TogoVar

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