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
MFSD12_chr19_3539199_3562586	3561960	CTTTTCTT others(18): Show CTTTTCTTGTTTTTTTTGAGATGGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02723.hp1 HG03209.hp2 HG01884.hp2 HG02723.hp1 HG03209.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0005 a0001c0006 a0003c0005	a0001c0006t0001 a0003c0005t0001 a0001c0006t0001 a0003c0005t0001	a0001c0006t0001g0318 a0001c0006t0001g0319 a0003c0005t0001g0317 a0001c0006t0001g0318 a0001c0006t0001g0319 a0003c0005t0001g0317	3	426	0.0070	-25	c.-45 others(36): Show c.-4582_-4558delCTCCATCTCAAAAAAAACAAGAAAA	MFSD12	ENSG00000161091.15	transcript	ENST00000355415.7	protein_coding		4375		chr19	TogoVar
MFSD4A_chr1_205564014_205607918	205577071	GGAGACAA others(18): Show GGAGACAAACAGCAGTGAACAGGACA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01981.hp1 HG01070.hp2 HG01071.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178	3	378	0.0079	-25	c.231 others(42): Show c.231-2675_231-2651delCAAACAGCAGTGAACAGGACAGAGA	MFSD4A	ENSG00000174514.13	transcript	ENST00000367147.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MFSD6_chr2_190403355_190507314	190454975	TATGTATA others(18): Show TATGTATATGTATATGTATATGTATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00741.hp2 HG01074.hp2 others(17): Show HG00408.hp2 HG00741.hp2 HG01074.hp2 HG01192.hp2 HG01243.hp2 HG01517.hp1 HG02040.hp2 HG03669.hp1 HG03942.hp2 HG04204.hp2 HG06807.hp1 NA18941.hp1 NA18942.hp2 NA18966.hp2 NA18967.hp2 NA18981.hp2 NA18992.hp1 NA18993.hp1 NA19005.hp2 NA19075.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0002c0002t0003	a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0078 others(17): Show a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0127 a0001c0001t0003g0017 a0001c0001t0003g0025 a0001c0001t0003g0029 a0001c0001t0003g0034 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0008g0332 a0001c0001t0011g0041 a0001c0001t0011g0046 a0002c0002t0003g0067	20	344	0.0581	-25	c.153 others(46): Show c.1533-14760_1533-14736delATAATGTATATGTATATGTATATG T	MFSD6	ENSG00000151690.15	transcript	ENST00000392328.6	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAM_chr7_141990879_142111747	142041984	TATAATAT others(18): Show TATAATATATATATATTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03942.hp2 HG01074.hp1 HG03942.hp2	a0003 a0051 a0003 a0051	a0003c0012 a0051c0055 a0003c0012 a0051c0055	a0003c0012t0001 a0051c0055t0001 a0003c0012t0001 a0051c0055t0001	a0003c0012t0001g0212 a0051c0055t0001g0186 a0003c0012t0001g0212 a0051c0055t0001g0186	2	316	0.0063	-25	c.249 others(44): Show c.2498+1142_2498+1166delATATATATATATTATATATATAATA	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142042070	ATAACATA others(18): Show ATAACATACAATATATAACATATAAT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	316	0.0032	-25	c.249 others(44): Show c.2498+1225_2498+1249delTAACATACAATATATAACATATAAT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70			chr7	TogoVar
MGAM_chr7_141990879_142111747	142042182	TATTATAT others(18): Show TATTATATATACATATAATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0050 a0050	a0050c0093 a0050c0093	a0050c0093t0002 a0050c0093t0002	a0050c0093t0002g0241 a0050c0093t0002g0241	1	316	0.0032	-25	c.249 others(44): Show c.2498+1339_2498+1363delTATATATACATATAATATATAACAT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142045185	ATGATATA others(18): Show ATGATATATAATATATATTATATAAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0056 a0056	a0056c0066 a0056c0066	a0056c0066t0001 a0056c0066t0001	a0056c0066t0001g0313 a0056c0066t0001g0313	1	316	0.0032	-25	c.249 others(44): Show c.2499-2599_2499-2575delTGATATATAATATATATTATATAAC	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70			chr7	TogoVar
MGAT1_chr5_180779780_180807806	180804136	CACGGGCC others(18): Show CACGGGCCAAACCCTCCCTCGGCCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00735.hp1 others(80): Show HG00597.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01891.hp2 HG01928.hp2 HG01981.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02280.hp1 HG02523.hp2 HG02647.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18965.hp2 NA18967.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA19003.hp1 NA19007.hp1 NA19009.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19060.hp1 NA19064.hp1 NA19067.hp1 NA19076.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0007 a0002c0002 others(7): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0003c0004 a0003c0006 a0004c0017 a0005c0010 a0006c0009 a0007c0014	a0001c0001t0011 a0001c0001t0054 a0001c0001t0072 others(41): Show a0001c0001t0011 a0001c0001t0054 a0001c0001t0072 a0001c0001t0073 a0001c0001t0139 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0007t0029 a0002c0002t0011 a0002c0002t0148 a0003c0003t0003 a0003c0003t0012 a0003c0003t0013 a0003c0003t0022 a0003c0003t0032 a0003c0003t0036 a0003c0003t0049 a0003c0003t0064 a0003c0003t0065 a0003c0003t0074 a0003c0003t0075 a0003c0003t0076 a0003c0003t0077 a0003c0003t0078 a0003c0003t0079 a0003c0003t0080 a0003c0003t0149 a0003c0004t0003 a0003c0004t0012 a0003c0004t0031 a0003c0004t0040 a0003c0006t0003 a0003c0006t0012 a0003c0006t0067 a0004c0017t0003 a0005c0010t0059 a0005c0010t0060 a0006c0009t0140 a0006c0009t0141 a0007c0014t0061	a0001c0001t0011g0004 a0001c0001t0011g0316 a0001c0001t0011g0319 others(61): Show a0001c0001t0011g0004 a0001c0001t0011g0316 a0001c0001t0011g0319 a0001c0001t0054g0318 a0001c0001t0072g0321 a0001c0001t0073g0322 a0001c0001t0139g0320 a0001c0001t0154g0312 a0001c0001t0155g0311 a0001c0001t0156g0310 a0001c0001t0157g0314 a0001c0001t0158g0317 a0001c0001t0159g0313 a0001c0007t0029g0053 a0002c0002t0011g0315 a0002c0002t0148g0309 a0003c0003t0003g0018 a0003c0003t0003g0276 a0003c0003t0003g0282 a0003c0003t0003g0283 a0003c0003t0003g0289 a0003c0003t0003g0295 a0003c0003t0003g0303 a0003c0003t0003g0305 a0003c0003t0012g0012 a0003c0003t0012g0287 a0003c0003t0013g0048 a0003c0003t0013g0049 a0003c0003t0013g0277 a0003c0003t0013g0278 a0003c0003t0013g0279 a0003c0003t0022g0052 a0003c0003t0022g0288 a0003c0003t0032g0050 a0003c0003t0036g0301 a0003c0003t0049g0056 a0003c0003t0064g0308 a0003c0003t0065g0298 a0003c0003t0074g0290 a0003c0003t0075g0275 a0003c0003t0076g0294 a0003c0003t0077g0306 a0003c0003t0078g0285 a0003c0003t0079g0286 a0003c0003t0080g0299 a0003c0003t0149g0291 a0003c0004t0003g0302 a0003c0004t0012g0051 a0003c0004t0031g0280 a0003c0004t0031g0284 a0003c0004t0040g0297 a0003c0006t0003g0019 a0003c0006t0003g0281 a0003c0006t0003g0292 a0003c0006t0003g0296 a0003c0006t0003g0300 a0003c0006t0012g0293 a0003c0006t0067g0307 a0004c0017t0003g0304 a0005c0010t0059g0069 a0005c0010t0060g0070 a0006c0009t0140g0059 a0006c0009t0141g0058 a0007c0014t0061g0071	83	436	0.1904	-25	c.-16 others(36): Show c.-1608_-1584delCAGGCCGAGGGAGGGTTTGGCCCGT	MGAT1	ENSG00000131446.17	transcript	ENST00000307826.5	protein_coding		1331		chr5	TogoVar
MIA2_chr14_39228915_39355694	39288444	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0308 a0003c0004t0001g0308	1	368	0.0027	-25	c.213 others(44): Show c.2131-2574_2131-2550delATATATATATATATATATATATATA	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	9/28			chr14	TogoVar
MIB1_chr18_21735792_21875953	21738806	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01081.hp2 HG02074.hp2 others(3): Show HG00609.hp2 HG01081.hp2 HG02074.hp2 HG03704.hp2 NA18954.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0170 a0001c0001t0002g0270 a0001c0001t0007g0051 others(3): Show a0001c0001t0001g0170 a0001c0001t0002g0270 a0001c0001t0007g0051 a0001c0001t0007g0153 a0001c0001t0007g0194 a0001c0001t0007g0199	6	308	0.0195	-25	c.-27 others(36): Show c.-2777_-2753delAAAAAAAAAAAAAAAAAAAAAAAAA	MIB1	ENSG00000101752.13	transcript	ENST00000261537.7	protein_coding		1985		chr18	TogoVar
MICB_chr6_31493145_31516124	31498446	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0102 a0001c0001t0010g0102	1	459	0.0022	-25	c.70+ others(38): Show c.70+196_70+220delTTTTTTTTTTTTTTTTTTTTTTTTT	MICB	ENSG00000204516.10	transcript	ENST00000252229.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
MICU1_chr10_72362340_72631079	72500275	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	208	0.0048	-25	c.652 others(42): Show c.652+7855_652+7879delTATATATATATATATATATATATAT	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	6/11			chr10	TogoVar
MINAR1_chr15_79427336_79477304	79438639	GTAGTGAG others(18): Show GTAGTGAGGGTGTGGGTGTGGGAGCA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0179 a0001c0007t0008g0179	1	390	0.0026	-25	c.-51 others(42): Show c.-51+6105_-51+6129delAGGGTGTGGGTGTGGGAGCATAGTG	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MINDY1_chr1_150991835_151011902	151004731	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02074.hp1 HG04204.hp2 HG01516.hp1 HG02074.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081	3	436	0.0069	-25	c.-90 others(42): Show c.-90+1556_-90+1580delATTTTATTTTATTTTATTTTATTTT	MINDY1	ENSG00000143409.18	transcript	ENST00000683666.2	protein_coding	1/9			chr1	TogoVar
MINDY2_chr15_58766302_58866900	58852947	TTTTTTTT others(18): Show TTTTTTTTTTTTTTTTTTTTTTTTAA	T T	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0342 a0001c0001t0003g0342	1	384	0.0026	-25	c.173 others(43): Show c.1737+983_1737+1007delTTTTTTTTTTTTTTTTTTTTTTTAA	MINDY2	ENSG00000128923.11	transcript	ENST00000559228.6	protein_coding	8/8			chr15	TogoVar
MIS18BP1_chr14_45198190_45258202	45254314	GAACCCTG others(18): Show GAACCCTGTCCAACTCCAGTCCTGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0110 a0002c0002t0001g0110	1	246	0.0041	-25	c.-13 others(36): Show c.-1396_-1372delTGCAGGACTGGAGTTGGACAGGGTT	MIS18BP1	ENSG00000129534.14	transcript	ENST00000310806.9	protein_coding		1113		chr14	TogoVar
MISP_chr19_746112_769318	754826	AGGTTTGG others(18): Show AGGTTTGGGGTGGAGGAAGAGGGCCT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG01884.hp2 others(4): Show HG00738.hp1 HG01243.hp1 HG01884.hp2 HG02451.hp1 HG02486.hp1 HG02622.hp1 HG02622.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0010	a0002c0024 a0003c0007 a0004c0009 others(2): Show a0002c0024 a0003c0007 a0004c0009 a0004c0034 a0010c0017	a0002c0024t0001 a0003c0007t0001 a0003c0007t0006 others(3): Show a0002c0024t0001 a0003c0007t0001 a0003c0007t0006 a0004c0009t0001 a0004c0034t0006 a0010c0017t0005	a0002c0024t0001g0127 a0003c0007t0001g0259 a0003c0007t0006g0082 others(4): Show a0002c0024t0001g0127 a0003c0007t0001g0259 a0003c0007t0006g0082 a0004c0009t0001g0126 a0004c0034t0006g0051 a0010c0017t0005g0260 a0010c0017t0005g0261	7	432	0.0162	-25	c.-57 others(42): Show c.-57-2050_-57-2026delGGAAGAGGGCCTGGTTTGGGGTGGA	MISP	ENSG00000099812.9	transcript	ENST00000215582.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
MISP_chr19_746112_769318	754991	AGAGGGCC others(18): Show AGAGGGCCTGGTTTGGGGTGGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0266 a0005c0010t0001g0266	1	432	0.0023	-25	c.-57 others(42): Show c.-57-1868_-57-1844delCCTGGTTTGGGGTGGAAGAGGAGGG	MISP	ENSG00000099812.9	transcript	ENST00000215582.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
MKKS_chr20_10396009_10439222	10431527	AAAACCAA others(18): Show AAAACCAAACCAAACCAAACCAAACC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03540.hp2 HG02630.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0056 a0001c0001t0004g0031 a0001c0001t0004g0056	2	390	0.0051	-25	c.-64 others(44): Show c.-649+2556_-649+2580delGGTTTGGTTTGGTTTGGTTTGGTTT	MKKS	ENSG00000125863.20	transcript	ENST00000347364.7	protein_coding	1/5			chr20	TogoVar
MKNK1_chr1_46552407_46609268	46585249	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG02145.hp2 others(1): Show HG00280.hp2 HG00323.hp1 HG02145.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 others(1): Show a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0287	4	346	0.0116	-25	c.-2- others(40): Show c.-2-1945_-2-1921delTTTTTTTTTTTTTTTTTTTTTTTTT	MKNK1	ENSG00000079277.22	transcript	ENST00000371945.10	protein_coding	2/12			chr1	TogoVar
MKRN1_chr7_140448033_140484505	140474004	AAAAAGAA others(18): Show AAAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG01123.hp1 others(6): Show HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01255.hp1 HG01943.hp1 HG02698.hp2 HG03704.hp1 HG04199.hp2 NA20805.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0012 a0002c0003t0001g0043 others(3): Show a0002c0003t0001g0003 a0002c0003t0001g0012 a0002c0003t0001g0043 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0072	9	434	0.0207	-25	c.186 others(42): Show c.186-2018_186-1994delCTTTCTTTCTTTCTTTCTTTCTTTT	MKRN1	ENSG00000133606.11	transcript	ENST00000255977.7	protein_coding	1/7			chr7	TogoVar
MKX_chr10_27667874_27750819	27686389	AAGGGAAA others(18): Show AAGGGAAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18943.hp1 HG00597.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0029 a0001c0001t0005 a0001c0001t0029	a0001c0001t0005g0055 a0001c0001t0029g0061 a0001c0001t0005g0055 a0001c0001t0029g0061	2	354	0.0057	-25	c.839 others(44): Show c.839-10860_839-10836delCCTTCCTTCCTTCCTTCCTTTCCCT	MKX	ENSG00000150051.14	transcript	ENST00000419761.6	protein_coding	5/6			chr10	TogoVar
MLPH_chr2_237482251_237560322	237544524	GGGGGGAC others(18): Show GGGGGGACAGTTGTTGAGTTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02559.hp1 HG01069.hp2 HG01071.hp1 HG02559.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0011 a0002c0002 a0009c0011	a0002c0002t0001 a0009c0011t0015 a0002c0002t0001 a0009c0011t0015	a0002c0002t0001g0142 a0002c0002t0001g0143 a0009c0011t0015g0254 a0002c0002t0001g0142 a0002c0002t0001g0143 a0009c0011t0015g0254	3	286	0.0105	-25	c.153 others(44): Show c.1539+1866_1539+1890delGGGGGACAGTTGTTGAGTTGGGGGA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MMD_chr17_55387622_55426835	55406103	TTCAAAAA others(18): Show TTCAAAAACAGGCTGGGTGCGGTGGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02451.hp2 others(17): Show HG01891.hp2 HG02109.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02723.hp2 HG02922.hp1 HG02976.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG06807.hp2 NA19030.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 others(2): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020	a0001c0001t0003g0109 a0001c0001t0007g0020 a0001c0001t0007g0025 others(13): Show a0001c0001t0003g0109 a0001c0001t0007g0020 a0001c0001t0007g0025 a0001c0001t0007g0161 a0001c0001t0007g0203 a0001c0001t0007g0210 a0001c0001t0007g0213 a0001c0001t0010g0046 a0001c0001t0010g0167 a0001c0001t0010g0168 a0001c0001t0010g0196 a0001c0001t0010g0215 a0001c0001t0012g0095 a0001c0001t0012g0200 a0001c0001t0012g0201 a0001c0001t0020g0211	20	408	0.0490	-25	c.344 others(42): Show c.344+1618_344+1642delGCCACCGCACCCAGCCTGTTTTTGA	MMD	ENSG00000108960.9	transcript	ENST00000262065.8	protein_coding	4/6			chr17	TogoVar
MMEL1_chr1_2585639_2638016	2634692	GTCCCCCC others(18): Show GTCCCCCCAGACACCCACACAGACCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG04199.hp1 NA19065.hp2 HG03831.hp2 HG04199.hp1 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0002 a0002c0002t0003g0084 a0002c0002t0003g0116 a0002c0002t0003g0002 a0002c0002t0003g0084 a0002c0002t0003g0116	3	343	0.0088	-25	c.-18 others(36): Show c.-1889_-1865delTGGTCTGTGTGGGTGTCTGGGGGGA	MMEL1	ENSG00000142606.16	transcript	ENST00000378412.8	protein_coding		1677		chr1	TogoVar
MME_chr3_155075319_155188704	155092090	CTTGTTTT others(18): Show CTTGTTTTATCTAGGCCCTCAACAGA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0038 a0001c0001t0060g0038	1	336	0.0030	-25	c.196 others(42): Show c.196+7000_196+7024delTTTTATCTAGGCCCTCAACAGATTG	MME	ENSG00000196549.13	transcript	ENST00000360490.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
MMGT1_chrX_135955588_135978988	135974269	GCCGAGGG others(18): Show GCCGAGGGGCGGGGAGGAGGTGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0031 a0001c0001t0010g0031	1	265	0.0038	-25	c.-61 others(34): Show c.-619_-595delGCCCCACCTCCTCCCCGCCCCTCGG	MMGT1	ENSG00000169446.6	transcript	ENST00000305963.3	protein_coding		282		chrX	TogoVar
MMP27_chr11_102686487_102710769	102689982	TTTTTCTT others(18): Show TTTTTCTTTTGTTTTGTTTTGTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0068 a0003c0003t0001g0068	1	458	0.0022	-25	c.17 others(36): Show c.1759_*1783delCAAAACAAAACAAAACAAAAGAAAA	MMP27	ENSG00000137675.5	transcript	ENST00000260229.5	protein_coding		1504		chr11	TogoVar
MMRN1_chr4_89889854_89959614	89891678	TTCAATAT others(18): Show TTCAATATTTTTCAAACACCATTAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02818.hp1 HG02896.hp1 others(2): Show HG02486.hp1 HG02818.hp1 HG02896.hp1 HG02970.hp2 HG03540.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0004 a0006c0006t0001 a0006c0006t0004 a0001c0001t0004 a0006c0006t0001 a0006c0006t0004	a0001c0001t0004g0152 a0001c0001t0004g0155 a0001c0001t0004g0160 others(2): Show a0001c0001t0004g0152 a0001c0001t0004g0155 a0001c0001t0004g0160 a0006c0006t0001g0153 a0006c0006t0004g0154	5	368	0.0136	-25	c.-32 others(36): Show c.-3293_-3269delTCAATATTTTTCAAACACCATTAAA	MMRN1	ENSG00000138722.10	transcript	ENST00000264790.7	protein_coding		3175		chr4	TogoVar
MND1_chr4_153339688_153420118	153344682	TCCCGCCC others(18): Show TCCCGCCCCTCTCCCCAAGCGCGGGC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02970.hp2 others(1): Show HG02896.hp2 HG02897.hp1 HG02970.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0004 a0001c0003t0004g0099 a0001c0003t0004g0100 a0001c0003t0004g0004 a0001c0003t0004g0099 a0001c0003t0004g0100	4	342	0.0117	-25	c.-53 others(32): Show c.-53_-29delCGCCCCTCTCCCCAAGCGCGGGCCC	MND1	ENSG00000121211.8	transcript	ENST00000240488.8	protein_coding	1/8	29	INFO_REALIGN_3_PRIME	chr4	TogoVar
MOBP_chr3_39462680_39508027	39468912	AGTGTGTA others(18): Show AGTGTGTATATATACATATATACATT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02148.hp2 HG02300.hp2 HG02135.hp2 HG02148.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0259 a0001c0001t0001g0049 a0001c0001t0001g0259	3	400	0.0075	-25	c.-89 others(42): Show c.-89+1197_-89+1221delTGTGTGTATATATACATATATACAT	MOBP	ENSG00000168314.19	transcript	ENST00000684792.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
MORC2_chr22_30920130_30973774	30960916	GTGCAAGC others(18): Show GTGCAAGCGGCGCAATCTCGGCTCAC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00639.hp1 others(21): Show HG00408.hp2 HG00558.hp1 HG00639.hp1 HG02015.hp2 HG02074.hp2 HG02523.hp1 HG02818.hp2 HG03139.hp1 HG03225.hp2 HG03579.hp2 HG03688.hp1 HG03834.hp1 NA18612.hp1 NA18747.hp1 NA18959.hp1 NA18962.hp1 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA19058.hp2 NA19081.hp1 NA19084.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 others(2): Show a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0002t0022 a0001c0002t0023	a0001c0002t0008g0010 a0001c0002t0008g0018 a0001c0002t0008g0097 others(18): Show a0001c0002t0008g0010 a0001c0002t0008g0018 a0001c0002t0008g0097 a0001c0002t0008g0101 a0001c0002t0008g0102 a0001c0002t0008g0103 a0001c0002t0008g0104 a0001c0002t0008g0105 a0001c0002t0008g0106 a0001c0002t0008g0116 a0001c0002t0011g0099 a0001c0002t0012g0047 a0001c0002t0012g0096 a0001c0002t0012g0098 a0001c0002t0012g0100 a0001c0002t0012g0107 a0001c0002t0012g0125 a0001c0002t0012g0272 a0001c0002t0022g0095 a0001c0002t0023g0093 a0001c0002t0023g0094	24	370	0.0649	-25	c.69- others(40): Show c.69-2247_69-2223delGTGAGCCGAGATTGCGCCGCTTGCA	MORC2	ENSG00000133422.14	transcript	ENST00000397641.8	protein_coding	1/25			chr22	TogoVar
MORF4L1_chr15_78867890_78903139	78890155	GGTTGCAG others(18): Show GGTTGCAGTGAGCCGAGATCACCCAA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	412	0.0024	-25	c.324 others(40): Show c.324-833_324-809delGTTGCAGTGAGCCGAGATCACCCAA	MORF4L1	ENSG00000185787.15	transcript	ENST00000426013.7	protein_coding	5/11			chr15	TogoVar
MPHOSPH6_chr16_82143162_82175224	82170964	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG03017.hp1 others(3): Show HG00280.hp1 HG00673.hp1 HG03017.hp1 HG03491.hp2 NA18965.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0001 a0001c0001t0003g0072 a0001c0001t0005g0006 others(3): Show a0001c0001t0003g0001 a0001c0001t0003g0072 a0001c0001t0005g0006 a0001c0001t0005g0177 a0001c0001t0005g0180 a0001c0001t0005g0185	6	434	0.0138	-25	c.-81 others(34): Show c.-814_-790delATATATTTTTTTTTTTTTTTTTTTT	MPHOSPH6	ENSG00000135698.10	transcript	ENST00000258169.9	protein_coding		741		chr16	TogoVar
MPHOSPH6_chr16_82143162_82175224	82170966	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(71): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01192.hp1 HG01515.hp2 HG01516.hp2 HG01928.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02165.hp2 HG02257.hp1 HG02523.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG03486.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18944.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp2 NA18982.hp1 NA18987.hp2 NA18988.hp2 NA18993.hp1 NA18995.hp1 NA19003.hp2 NA19010.hp1 NA19057.hp2 NA19059.hp2 NA19064.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp2 NA19089.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0003 a0005c0007 others(1): Show a0001c0001 a0001c0003 a0005c0007 a0006c0010	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0003t0001 a0005c0007t0003 a0006c0010t0003	a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0030 others(34): Show a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0060 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0005g0003 a0001c0001t0005g0006 a0001c0001t0005g0042 a0001c0001t0005g0166 a0001c0001t0005g0167 a0001c0001t0005g0174 a0001c0001t0005g0176 a0001c0001t0005g0182 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0007g0065 a0001c0001t0011g0016 a0001c0001t0014g0059 a0001c0003t0001g0020 a0005c0007t0003g0070 a0006c0010t0003g0061	74	434	0.1705	-25	c.-81 others(34): Show c.-816_-792delATATATATTTTTTTTTTTTTTTTTT	MPHOSPH6	ENSG00000135698.10	transcript	ENST00000258169.9	protein_coding		743		chr16	TogoVar
MPHOSPH6_chr16_82143162_82175224	82170968	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG03041.hp1 HG03486.hp2 others(5): Show HG00735.hp1 HG03041.hp1 HG03486.hp2 HG03831.hp2 HG03942.hp2 NA18939.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0005g0006 others(3): Show a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0005g0006 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172	8	434	0.0184	-25	c.-81 others(34): Show c.-818_-794delATATATATATTTTTTTTTTTTTTTT	MPHOSPH6	ENSG00000135698.10	transcript	ENST00000258169.9	protein_coding		745		chr16	TogoVar
MPHOSPH6_chr16_82143162_82175224	82170970	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	434	0.0023	-25	c.-82 others(34): Show c.-820_-796delATATATATATATTTTTTTTTTTTTT	MPHOSPH6	ENSG00000135698.10	transcript	ENST00000258169.9	protein_coding		747		chr16	TogoVar
MPI_chr15_74885042_74907219	74894069	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	422	0.0024	-25	c.670 others(40): Show c.670+750_670+774delGTGTGTGTGTGTGTGTGTGTGTGTG	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7			chr15	TogoVar
MPRIP_chr17_17037457_17197643	17066723	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 NA19007.hp1 HG02895.hp2 HG02897.hp2 NA19007.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0002 a0006c0010t0025 a0001c0001t0002 a0006c0010t0025	a0001c0001t0002g0080 a0006c0010t0025g0201 a0006c0010t0025g0202 a0001c0001t0002g0080 a0006c0010t0025g0201 a0006c0010t0025g0202	3	314	0.0096	-25	c.124 others(42): Show c.124-8965_124-8941delTTTTTTTTTTTTTTTTTTTTTTTTT	MPRIP	ENSG00000133030.22	transcript	ENST00000651222.2	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
MRI1_chr19_13759522_13779282	13767025	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA20129.hp1 HG02897.hp2 NA20129.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0011 a0001c0001 a0010c0011	a0001c0001t0017 a0010c0011t0001 a0001c0001t0017 a0010c0011t0001	a0001c0001t0017g0318 a0010c0011t0001g0200 a0001c0001t0017g0318 a0010c0011t0001g0200	2	460	0.0044	-25	c.547 others(40): Show c.547+898_547+922delATATATATATATTTTTTTTTTTTTT	MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
MRI1_chr19_13759522_13779282	13767027	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	460	0.0022	-25	c.547 others(40): Show c.547+900_547+924delATATATATATTTTTTTTTTTTTTTT	MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
MRI1_chr19_13759522_13779282	13767029	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02622.hp1 others(4): Show HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG02970.hp1 HG03130.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0007 a0001c0001t0002 a0002c0002t0007	a0001c0001t0002g0165 a0001c0001t0002g0189 a0002c0002t0007g0010 others(1): Show a0001c0001t0002g0165 a0001c0001t0002g0189 a0002c0002t0007g0010 a0002c0002t0007g0201	7	460	0.0152	-25	c.547 others(40): Show c.547+902_547+926delATATATATTTTTTTTTTTTTTTTTT	MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
MROH9_chr1_170930534_171069765	171044972	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0211 a0010c0013t0001g0211	1	226	0.0044	-25	c.228 others(46): Show c.2282-17137_2282-17113delTTTTTTTTTTTTTTTTTTTTTTTT T	MROH9	ENSG00000117501.15	transcript	ENST00000367759.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL3_chr3_131457212_131507971	131475953	AACATGTT others(18): Show AACATGTTACACTGGCCATTCTTGGT	A A	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	390	0.0026	-25	c.630 others(42): Show c.630-4699_630-4675delACCAAGAATGGCCAGTGTAACATGT	MRPL3	ENSG00000114686.9	transcript	ENST00000264995.8	protein_coding	6/9			chr3	TogoVar
MRPL46_chr15_88454478_88472388	88460182	CTGCTGGC others(18): Show CTGCTGGCGAATCAGCCCAGTCGCTA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03130.hp1 HG03486.hp2 others(1): Show HG02622.hp1 HG03130.hp1 HG03486.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	4	292	0.0137	-25	c.590 others(40): Show c.590-344_590-320delTAGCGACTGGGCTGATTCGCCAGCA	MRPL46	ENSG00000259494.2	transcript	ENST00000312475.5	protein_coding	3/3			chr15	TogoVar
MRPL48_chr11_73782874_73870133	73788021	CGGGGAGA others(18): Show CGGGGAGATGGCGGACGGTGCAGAGA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp2 HG01081.hp2 others(20): Show HG00735.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp1 HG01261.hp1 HG01515.hp2 HG01516.hp1 HG02074.hp1 HG02257.hp2 HG02622.hp2 HG04204.hp1 HG04228.hp1 NA18948.hp2 NA18953.hp1 NA18961.hp2 NA18963.hp2 NA18994.hp2 NA19007.hp2 NA19057.hp2 NA19068.hp2 NA19070.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0311 a0001c0001t0003g0312 others(19): Show a0001c0001t0003g0005 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331	23	336	0.0685	-25	c.21+ others(36): Show c.21+44_21+68delCGGTGCAGAGAGGGGAGATGGCGGA	MRPL48	ENSG00000175581.14	transcript	ENST00000310614.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MRPL51_chr12_6486886_6498262	6498111	GTTGCCCA others(18): Show GTTGCCCAGGCTGGTCTCAAACTCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	-25	c.-50 others(36): Show c.-5000_-4976delGGGAGTTTGAGACCAGCCTGGGCAA	MRPL51	ENSG00000111639.8	transcript	ENST00000229238.5	protein_coding		4850		chr12	TogoVar
MRTFA_chr22_40405289_40641719	40501439	AGTAGGGG others(18): Show AGTAGGGGCGGCCGGGCAGAGGCGCC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02293.hp1 NA18949.hp1 HG01192.hp2 HG02293.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0079 a0001c0001t0002g0174 a0001c0001t0003g0071 a0001c0001t0001g0079 a0001c0001t0002g0174 a0001c0001t0003g0071	3	256	0.0117	-25	c.242 others(44): Show c.242-38178_242-38154delGGCGCCTCTGCCCGGCCGCCCCTAC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFB_chr16_14066319_14271773	14127911	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0079 a0001c0001t0004g0079	1	240	0.0042	-25	c.-63 others(44): Show c.-63-12631_-63-12607delATATATATATATATATATTTTTTTT	MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MS4A14_chr11_60391459_60422756	60419045	ATATATAG others(18): Show ATATATAGAGAGAGAGAGAGAGAGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0130 a0002c0002t0002g0130	1	428	0.0023	-25	c.20 others(36): Show c.2038_*2062delTATATAGAGAGAGAGAGAGAGAGTG	MS4A14	ENSG00000166928.11	transcript	ENST00000300187.11	protein_coding		1290		chr11	TogoVar

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