JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
MED12_chrX_71113596_71147450	71141239	CA CA	C C	frameshift_variant frameshift_variant	HIGH	NA18949.hp2 NA18949.hp2	a0000 a0000	a0000c0017 a0000c0017	a0000c0017t0001 a0000c0017t0001	a0000c0017t0001g0128 a0000c0017t0001g0128	1	273	0.0037	-1	c.627 others(5): Show c.6279delA	p.Gln others(6): Show p.Gln2093fs	MED12	ENSG00000184634.17	transcript	ENST00000374080.8	protein_coding	43/45	6438/6925	6279/6534	2093/2177	INFO_REALIGN_3_PRIME	chrX	TogoVar
MED12_chrX_71113596_71147450	71141246	A A	AACAGCAG AACAGCAG	frameshift_variant frameshift_variant	HIGH	NA19001.hp2 NA19001.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0122 a0008c0016t0001g0122	1	273	0.0037	7	c.628 others(16): Show c.6285_6291dupACAGCAG	p.Gln others(6): Show p.Gln2098fs	MED12	ENSG00000184634.17	transcript	ENST00000374080.8	protein_coding	43/45	6451/6925	6292/6534	2098/2177	INFO_REALIGN_3_PRIME	chrX	TogoVar
MED12_chrX_71113596_71147450	71141277	A A	AGCAGCAC AGCAGCAC	frameshift_variant frameshift_variant	HIGH	NA19001.hp2 NA19001.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0122 a0008c0016t0001g0122	1	273	0.0037	7	c.631 others(16): Show c.6315_6316insGCAGCAC	p.Gln others(6): Show p.Gln2106fs	MED12	ENSG00000184634.17	transcript	ENST00000374080.8	protein_coding	43/45	6475/6925	6316/6534	2106/2177		chrX	TogoVar
MED12_chrX_71113596_71147450	71142188	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0001 a0006c0019t0001	a0006c0019t0001g0087 a0006c0019t0001g0087	1	273	0.0037	-1	c.650 others(5): Show c.6507delC	p.Ser others(6): Show p.Ser2170fs	MED12	ENSG00000184634.17	transcript	ENST00000374080.8	protein_coding	45/45	6666/6925	6507/6534	2169/2177	INFO_REALIGN_3_PRIME	chrX	TogoVar
MED14_chrX_40643305_40740542	40692798	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19072.hp1 NA19072.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0077 a0008c0011t0001g0077	1	251	0.0040	1	c.175 others(5): Show c.1754dupC	p.Leu others(5): Show p.Leu586fs	MED14	ENSG00000180182.11	transcript	ENST00000324817.6	protein_coding	14/31	1884/7996	1754/4365	585/1454		chrX	TogoVar
MED14_chrX_40643305_40740542	40692878	TGGGAACC others(3): Show TGGGAACCTCC	T T	frameshift_variant frameshift_variant	HIGH	NA19072.hp1 NA19072.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0077 a0008c0011t0001g0077	1	251	0.0040	-10	c.166 others(19): Show c.1665_1674delGGAGGTTCCC	p.Glu others(5): Show p.Glu556fs	MED14	ENSG00000180182.11	transcript	ENST00000324817.6	protein_coding	14/31	1804/7996	1665/4365	555/1454		chrX	TogoVar
MED14_chrX_40643305_40740542	40703465	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA19072.hp1 NA19072.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0077 a0008c0011t0001g0077	1	251	0.0040	1	c.138 others(5): Show c.1389dupT	p.Gln others(5): Show p.Gln464fs	MED14	ENSG00000180182.11	transcript	ENST00000324817.6	protein_coding	11/31	1519/7996	1389/4365	463/1454		chrX	TogoVar
MED14_chrX_40643305_40740542	40735353	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0013 a0002c0015t0013	a0002c0015t0013g0242 a0002c0015t0013g0242	1	251	0.0040	1	c.59d others(3): Show c.59dupG	p.Ser others(4): Show p.Ser21fs	MED14	ENSG00000180182.11	transcript	ENST00000324817.6	protein_coding	1/31	189/7996	59/4365	20/1454		chrX	TogoVar
MED16_chr19_862963_898187	868240	C C	CCTTCAAC others(12): Show CCTTCAACAGCCCTGCAGGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01099.hp1 HG01099.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0051 a0004c0010t0001g0051	1	56	0.0179	19	c.248 others(30): Show c.2484-8_2494dupCCCTGCAGGGCTGTTGAAG	p.Gly others(5): Show p.Gly832fs	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	16/16	2614/2892	2494/2634	832/877		chr19	TogoVar
MED9_chr17_17472000_17498221	17491439	AATGAGCT others(24): Show AATGAGCTTCTGCAAAAGTACAAGAGCCTCTG	A A	frameshift_variant frameshift_variant	HIGH	NA19000.hp2 NA19000.hp2	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0001 a0000c0004t0001	a0000c0004t0001g0077 a0000c0004t0001g0077	1	404	0.0025	-31	c.386 others(38): Show c.386_416delATGAGCTTCTGCAAAAGTACAAGAGCCTCTG	p.Asn others(5): Show p.Asn129fs	MED9	ENSG00000141026.6	transcript	ENST00000268711.4	protein_coding	2/2	428/2209	386/441	129/146		chr17	TogoVar
MEF2A_chr15_99560984_99721488	99712533	A A	AGCAGCAC others(12): Show AGCAGCACAGCAGCACCGCC	frameshift_variant frameshift_variant	HIGH	HG01261.hp2 HG01261.hp2	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0038 a0015c0024t0038	a0015c0024t0038g0114 a0015c0024t0038g0114	1	376	0.0027	19	c.128 others(28): Show c.1285_1286insACAGCAGCACCGCCGCAGC	p.Pro others(5): Show p.Pro429fs	MEF2A	ENSG00000068305.19	transcript	ENST00000557942.6	protein_coding	12/12	1631/5580	1286/1518	429/505	INFO_REALIGN_3_PRIME	chr15	TogoVar
MEGF10_chr5_127285796_127466222	127420127	G G	GAGGAAAA others(28): Show GAGGAAAAATCGAAAAAGATAGAAAGAAAGAGAGAA	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0030 a0007c0030	a0007c0030t0005 a0007c0030t0005	a0007c0030t0005g0085 a0007c0030t0005g0085	1	268	0.0037	35	c.151 others(44): Show c.1510_1511insAGGAAAAATCGAAAAAGATAGAAAGAAAGAGAGAA	p.Gly others(5): Show p.Gly504fs	MEGF10	ENSG00000145794.17	transcript	ENST00000503335.7	protein_coding	12/25	1790/7606	1511/3423	504/1140		chr5	TogoVar
MEI1_chr22_41694503_41804454	41699535	G G	GGA GGA	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG01884.hp1 HG02280.hp1 HG02559.hp1 others(22): Show HG01884.hp1 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 NA18522.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0009 a0001 a0009	a0001c0004 a0001c0008 a0001c0011 others(2): Show a0001c0004 a0001c0008 a0001c0011 a0001c0015 a0009c0016	a0001c0004t0003 a0001c0004t0006 a0001c0008t0003 others(3): Show a0001c0004t0003 a0001c0004t0006 a0001c0008t0003 a0001c0011t0003 a0001c0015t0003 a0009c0016t0003	a0001c0004t0003g0039 a0001c0004t0003g0040 a0001c0004t0003g0041 others(22): Show a0001c0004t0003g0039 a0001c0004t0003g0040 a0001c0004t0003g0041 a0001c0004t0003g0042 a0001c0004t0003g0043 a0001c0004t0003g0114 a0001c0004t0003g0115 a0001c0004t0003g0116 a0001c0004t0003g0118 a0001c0004t0003g0120 a0001c0004t0003g0121 a0001c0004t0003g0122 a0001c0004t0003g0124 a0001c0004t0003g0125 a0001c0004t0003g0127 a0001c0004t0006g0126 a0001c0008t0003g0108 a0001c0008t0003g0110 a0001c0008t0003g0111 a0001c0008t0003g0112 a0001c0008t0003g0113 a0001c0011t0003g0117 a0001c0011t0003g0123 a0001c0015t0003g0109 a0009c0016t0003g0119	25	260	0.0962	2	c.-1_ others(6): Show c.-1_1dupGA	p.Met others(3): Show p.Met1fs	MEI1	ENSG00000167077.13	transcript	ENST00000401548.8	protein_coding	1/31	38/4016	2/3825	1/1274	INFO_REALIGN_3_PRIME	chr22	TogoVar
MEIOC_chr17_44651468_44680801	44667867	A A	AGACAATA others(3): Show AGACAATAGCC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02683.hp2 HG02683.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0155 a0008c0011t0001g0155	1	352	0.0028	10	c.195 others(19): Show c.1958_1967dupACAATAGCCG	p.Val others(5): Show p.Val657fs	MEIOC	ENSG00000180336.18	transcript	ENST00000409122.7	protein_coding	5/8	2114/4610	1968/2859	656/952	INFO_REALIGN_3_PRIME	chr17	TogoVar
MEIOSIN_chr19_45728439_45769541	45764100	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00738.hp1 HG01099.hp2 HG01255.hp2 others(9): Show HG00738.hp1 HG01099.hp2 HG01255.hp2 HG01928.hp2 HG02145.hp2 NA18961.hp1 NA18963.hp2 NA18985.hp1 NA18985.hp2 NA19000.hp2 NA19010.hp1 NA19054.hp2	a0000 a0000	a0000c0007 a0000c0008 a0000c0018 others(1): Show a0000c0007 a0000c0008 a0000c0018 a0000c0032	a0000c0007t0001 a0000c0007t0002 a0000c0008t0003 others(2): Show a0000c0007t0001 a0000c0007t0002 a0000c0008t0003 a0000c0018t0001 a0000c0032t0002	a0000c0007t0001g0006 a0000c0007t0001g0100 a0000c0007t0001g0177 others(9): Show a0000c0007t0001g0006 a0000c0007t0001g0100 a0000c0007t0001g0177 a0000c0007t0001g0188 a0000c0007t0001g0200 a0000c0007t0002g0077 a0000c0007t0002g0078 a0000c0008t0003g0224 a0000c0008t0003g0227 a0000c0008t0003g0239 a0000c0018t0001g0273 a0000c0032t0002g0083	12	360	0.0333	1	c.190 others(5): Show c.1904dupC	p.His others(5): Show p.His636fs	MEIOSIN	ENSG00000237452.3	transcript	ENST00000457052.3	protein_coding	15/15	2133/2568	1905/1917	635/638	INFO_REALIGN_3_PRIME	chr19	TogoVar
MESP2_chr15_89771332_89783754	89776909	GGGGCAGG others(16): Show GGGGCAGGGGCAGGGGCAAGGGCA	G G	frameshift_variant frameshift_variant	HIGH	NA19076.hp2 NA19076.hp2	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0001 a0013c0023t0001	a0013c0023t0001g0001 a0013c0023t0001g0001	1	394	0.0025	-23	c.556 others(30): Show c.556_578delCAGGGGCAGGGGCAAGGGCAGGG	p.Gln others(5): Show p.Gln186fs	MESP2	ENSG00000188095.6	transcript	ENST00000341735.5	protein_coding	1/2	582/1640	556/1194	186/397	INFO_REALIGN_3_PRIME	chr15	TogoVar
METTL17_chr14_20984980_21002035	20996849	G G	GGTTACTA others(70): Show GGTTACTATTCTTTTCCATCTTTTTTTTTATCCTTATTTTATCTTTGCCC TCCTCTTGAGATCTTTACCTGTGCTTAC	frameshift_variant frameshift_variant	HIGH	NA18957.hp2 NA18957.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0106 a0006c0007t0001g0106	1	478	0.0021	77	c.133 others(86): Show c.1330_1331insGTTACTATTCTTTTCCATCTTTTTTTTTATCCTTAT TTTATCTTTGCCCTCCTCTTGAGATCTTTACCTGTGCTTAC	p.Ala others(5): Show p.Ala444fs	METTL17	ENSG00000165792.18	transcript	ENST00000339374.11	protein_coding	14/14	1354/1539	1331/1371	444/456		chr14	TogoVar
METTL8_chr2_171310746_171438990	171326140	C C	CCTTGCAT others(36): Show CCTTGCATCCTTTGGAAACAAAGTATTAAAAAGATACCCAGTTT	frameshift_variant frameshift_variant	HIGH	HG02280.hp1 HG02647.hp1 HG03540.hp1 HG02280.hp1 HG02647.hp1 HG03540.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0005 a0005c0007t0031 a0005c0007t0005 a0005c0007t0031	a0005c0007t0005g0235 a0005c0007t0031g0018 a0005c0007t0031g0020 a0005c0007t0005g0235 a0005c0007t0031g0018 a0005c0007t0031g0020	3	332	0.0090	43	c.861 others(53): Show c.861-35_868dupAAACTGGGTATCTTTTTAATACTTTGTTTCCAAAG GATGCAAG	p.Gly others(5): Show p.Gly290fs	METTL8	ENSG00000123600.21	transcript	ENST00000375258.9	protein_coding	8/10	988/9770	868/1224	290/407		chr2	TogoVar
MGAM2_chr7_142106718_142227324	142134141	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG03710.hp1 HG03927.hp2 others(5): Show HG00438.hp2 HG03710.hp1 HG03927.hp2 NA18947.hp2 NA18956.hp2 NA18978.hp1 NA19078.hp1 NA21309.hp1	a0006 a0006	a0006c0033 a0006c0034 a0006c0079 others(3): Show a0006c0033 a0006c0034 a0006c0079 a0006c0080 a0006c0081 a0006c0082	a0006c0033t0001 a0006c0034t0001 a0006c0079t0001 others(3): Show a0006c0033t0001 a0006c0034t0001 a0006c0079t0001 a0006c0080t0001 a0006c0081t0001 a0006c0082t0001	a0006c0033t0001g0132 a0006c0033t0001g0155 a0006c0034t0001g0135 others(5): Show a0006c0033t0001g0132 a0006c0033t0001g0155 a0006c0034t0001g0135 a0006c0034t0001g0187 a0006c0079t0001g0076 a0006c0080t0001g0129 a0006c0081t0001g0111 a0006c0082t0001g0287	8	329	0.0243	1	c.741 others(4): Show c.741dupC	p.Thr others(5): Show p.Thr248fs	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	7/48	832/7903	742/7548	248/2515	INFO_REALIGN_3_PRIME	chr7	TogoVar
MIA_chr19_40770521_40782490	40777022	T T	TAGCATTG others(30): Show TAGCATTGTCCGAGAGGACCAGACCCTGAAACCTGGCA	frameshift_variant frameshift_variant	HIGH	NA19084.hp2 NA19084.hp2	a0000 a0000	a0000c0003 a0000c0003	a0000c0003t0001 a0000c0003t0001	a0000c0003t0001g0001 a0000c0003t0001g0001	1	404	0.0025	37	c.317 others(44): Show c.317_353dupGCATTGTCCGAGAGGACCAGACCCTGAAACCTGGCAA	p.Val others(5): Show p.Val119fs	MIA	ENSG00000261857.7	transcript	ENST00000263369.4	protein_coding	3/4	376/488	354/396	118/131	INFO_REALIGN_3_PRIME	chr19	TogoVar
MIB2_chr1_1610500_1635605	1623855	T T	TGGACTAC others(22): Show TGGACTACGACCTCTGCACGCAGTGCTACA	frameshift_variant frameshift_variant	HIGH	NA19076.hp2 NA19076.hp2	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0001 a0015c0016t0001	a0015c0016t0001g0061 a0015c0016t0001g0061	1	412	0.0024	29	c.330 others(36): Show c.330_358dupGGACTACGACCTCTGCACGCAGTGCTACA	p.Met others(5): Show p.Met120fs	MIB2	ENSG00000197530.13	transcript	ENST00000355826.10	protein_coding	4/20	622/3206	359/2868	120/955	INFO_REALIGN_3_PRIME	chr1	TogoVar
MICAL3_chr22_17782649_18029561	17819102	CGGCAGGG others(7): Show CGGCAGGGACAGGTG	C C	frameshift_variant frameshift_variant	HIGH	HG00738.hp2 HG00738.hp2	a0029 a0029	a0029c0052 a0029c0052	a0029c0052t0001 a0029c0052t0001	a0029c0052t0001g0230 a0029c0052t0001g0230	1	274	0.0037	-14	c.354 others(23): Show c.3545_3558delCACCTGTCCCTGCC	p.Pro others(6): Show p.Pro1182fs	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	26/32	3913/9447	3545/6009	1182/2002		chr22	TogoVar
MICA_chr6_31398595_31420315	31412380	TGCTG TGCTG	T T	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00323.hp1 HG00438.hp2 others(43): Show HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01433.hp2 HG01516.hp1 HG01884.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02572.hp2 HG02647.hp1 HG02895.hp1 HG02922.hp1 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG04204.hp2 NA18951.hp1 NA18954.hp2 NA18960.hp1 NA18961.hp1 NA18965.hp2 NA18970.hp2 NA18972.hp2 NA18977.hp1 NA18980.hp1 NA18985.hp1 NA18989.hp1 NA19000.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19075.hp2 NA19240.hp2 NA20805.hp1 NA20805.hp2	a0000 a0000	a0000c0008 a0000c0009 a0000c0012 others(2): Show a0000c0008 a0000c0009 a0000c0012 a0000c0015 a0000c0019	a0000c0008t0004 a0000c0009t0005 a0000c0012t0004 others(2): Show a0000c0008t0004 a0000c0009t0005 a0000c0012t0004 a0000c0015t0003 a0000c0019t0003	a0000c0008t0004g0008 a0000c0008t0004g0067 a0000c0008t0004g0068 others(21): Show a0000c0008t0004g0008 a0000c0008t0004g0067 a0000c0008t0004g0068 a0000c0008t0004g0069 a0000c0008t0004g0078 a0000c0008t0004g0079 a0000c0008t0004g0080 a0000c0008t0004g0110 a0000c0009t0005g0055 a0000c0009t0005g0056 a0000c0009t0005g0057 a0000c0009t0005g0058 a0000c0009t0005g0106 a0000c0009t0005g0107 a0000c0009t0005g0108 a0000c0009t0005g0109 a0000c0009t0005g0114 a0000c0009t0005g0115 a0000c0012t0004g0019 a0000c0012t0004g0081 a0000c0015t0003g0030 a0000c0015t0003g0062 a0000c0019t0003g0092 a0000c0019t0003g0093	46	439	0.1048	-4	c.953 others(11): Show c.953_956delGCTG	p.Gly others(5): Show p.Gly318fs	MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding	5/6	991/1370	953/999	318/332	INFO_REALIGN_3_PRIME	chr6	TogoVar
MICA_chr6_31398595_31420315	31412383	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(100): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00733.hp1 HG01109.hp2 HG01168.hp1 HG01256.hp1 HG01258.hp2 HG01496.hp2 HG01515.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG03017.hp1 HG03017.hp2 HG03490.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18949.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19007.hp2 NA19011.hp2 NA19057.hp2 NA19059.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp1 NA19082.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp2	a0000 a0000	a0000c0005 a0000c0006 a0000c0010 others(5): Show a0000c0005 a0000c0006 a0000c0010 a0000c0020 a0000c0021 a0000c0023 a0000c0024 a0000c0028	a0000c0005t0001 a0000c0006t0001 a0000c0010t0001 others(5): Show a0000c0005t0001 a0000c0006t0001 a0000c0010t0001 a0000c0020t0001 a0000c0021t0001 a0000c0023t0001 a0000c0024t0001 a0000c0028t0001	a0000c0005t0001g0005 a0000c0005t0001g0018 a0000c0005t0001g0021 others(28): Show a0000c0005t0001g0005 a0000c0005t0001g0018 a0000c0005t0001g0021 a0000c0005t0001g0028 a0000c0005t0001g0037 a0000c0005t0001g0050 a0000c0005t0001g0097 a0000c0005t0001g0098 a0000c0005t0001g0099 a0000c0005t0001g0100 a0000c0005t0001g0101 a0000c0005t0001g0103 a0000c0005t0001g0104 a0000c0006t0001g0002 a0000c0006t0001g0031 a0000c0006t0001g0032 a0000c0006t0001g0075 a0000c0006t0001g0076 a0000c0006t0001g0077 a0000c0010t0001g0025 a0000c0010t0001g0027 a0000c0010t0001g0049 a0000c0010t0001g0052 a0000c0010t0001g0071 a0000c0010t0001g0096 a0000c0010t0001g0102 a0000c0020t0001g0060 a0000c0021t0001g0027 a0000c0023t0001g0005 a0000c0024t0001g0018 a0000c0028t0001g0002	103	439	0.2346	-1	c.953 others(4): Show c.953delG	p.Gly others(5): Show p.Gly318fs	MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding	5/6	991/1370	953/999	318/332	INFO_REALIGN_3_PRIME	chr6	TogoVar
MICA_chr6_31398595_31420315	31412384	G G	GCT GCT	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00438.hp1 HG00621.hp1 others(110): Show HG00423.hp1 HG00438.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp2 NA18954.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp2 NA18968.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19006.hp2 NA19009.hp2 NA19054.hp1 NA19059.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0000 a0000	a0000c0002 a0000c0004 a0000c0014 others(2): Show a0000c0002 a0000c0004 a0000c0014 a0000c0017 a0000c0027	a0000c0002t0001 a0000c0002t0006 a0000c0004t0001 others(4): Show a0000c0002t0001 a0000c0002t0006 a0000c0004t0001 a0000c0004t0007 a0000c0014t0001 a0000c0017t0008 a0000c0027t0008	a0000c0002t0001g0001 a0000c0002t0001g0012 a0000c0002t0001g0020 others(34): Show a0000c0002t0001g0001 a0000c0002t0001g0012 a0000c0002t0001g0020 a0000c0002t0001g0022 a0000c0002t0001g0040 a0000c0002t0001g0063 a0000c0002t0001g0064 a0000c0002t0001g0065 a0000c0002t0001g0094 a0000c0002t0001g0095 a0000c0002t0006g0001 a0000c0004t0001g0003 a0000c0004t0001g0033 a0000c0004t0001g0034 a0000c0004t0001g0045 a0000c0004t0001g0046 a0000c0004t0001g0047 a0000c0004t0001g0048 a0000c0004t0001g0082 a0000c0004t0001g0083 a0000c0004t0001g0084 a0000c0004t0001g0085 a0000c0004t0001g0087 a0000c0004t0001g0088 a0000c0004t0001g0089 a0000c0004t0001g0090 a0000c0004t0001g0091 a0000c0004t0007g0003 a0000c0004t0007g0033 a0000c0004t0007g0034 a0000c0004t0007g0086 a0000c0004t0007g0105 a0000c0014t0001g0023 a0000c0014t0001g0066 a0000c0017t0008g0059 a0000c0017t0008g0113 a0000c0027t0008g0116	113	439	0.2574	2	c.952 others(9): Show c.952_953insCT	p.Gly others(5): Show p.Gly318fs	MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding	5/6	991/1370	953/999	318/332		chr6	TogoVar
MICA_chr6_31398595_31420315	31412384	G G	GCTGCTGC others(4): Show GCTGCTGCTGCT	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00642.hp1 HG00741.hp1 others(83): Show HG00140.hp2 HG00642.hp1 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02630.hp1 HG02717.hp1 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03486.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18959.hp1 NA18964.hp2 NA18966.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19058.hp1 NA19065.hp1 NA19072.hp2 NA19081.hp2 NA19087.hp1 NA19090.hp1 NA20300.hp1	a0000 a0000	a0000c0001 a0000c0011 a0000c0013 others(3): Show a0000c0001 a0000c0011 a0000c0013 a0000c0018 a0000c0025 a0000c0026	a0000c0001t0002 a0000c0001t0003 a0000c0011t0003 others(4): Show a0000c0001t0002 a0000c0001t0003 a0000c0011t0003 a0000c0013t0003 a0000c0018t0003 a0000c0025t0003 a0000c0026t0003	a0000c0001t0002g0029 a0000c0001t0003g0006 a0000c0001t0003g0009 others(21): Show a0000c0001t0002g0029 a0000c0001t0003g0006 a0000c0001t0003g0009 a0000c0001t0003g0010 a0000c0001t0003g0016 a0000c0001t0003g0038 a0000c0001t0003g0039 a0000c0001t0003g0041 a0000c0001t0003g0042 a0000c0001t0003g0061 a0000c0001t0003g0070 a0000c0001t0003g0111 a0000c0001t0003g0117 a0000c0001t0003g0118 a0000c0001t0003g0119 a0000c0001t0003g0120 a0000c0001t0003g0121 a0000c0001t0003g0122 a0000c0011t0003g0013 a0000c0013t0003g0024 a0000c0013t0003g0112 a0000c0018t0003g0016 a0000c0025t0003g0006 a0000c0026t0003g0016	86	439	0.1959	11	c.952 others(18): Show c.952_953insCTGCTGCTGCT	p.Gly others(5): Show p.Gly318fs	MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding	5/6	991/1370	953/999	318/332		chr6	TogoVar
MID1_chrX_10440556_10625585	10567041	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0121 a0003c0008t0001g0121	1	165	0.0061	1	c.506 others(4): Show c.506dupA	p.His others(5): Show p.His169fs	MID1	ENSG00000101871.18	transcript	ENST00000317552.9	protein_coding	2/10	858/6168	506/2004	169/667		chrX	TogoVar
MID1_chrX_10440556_10625585	10567165	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0121 a0003c0008t0001g0121	1	165	0.0061	1	c.382 others(4): Show c.382dupC	p.Gln others(5): Show p.Gln128fs	MID1	ENSG00000101871.18	transcript	ENST00000317552.9	protein_coding	2/10	734/6168	382/2004	128/667		chrX	TogoVar
MID1_chrX_10440556_10625585	10567183	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0121 a0003c0008t0001g0121	1	165	0.0061	1	c.364 others(4): Show c.364dupT	p.Cys others(5): Show p.Cys122fs	MID1	ENSG00000101871.18	transcript	ENST00000317552.9	protein_coding	2/10	716/6168	364/2004	122/667		chrX	TogoVar
MID1_chrX_10440556_10625585	10567397	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0121 a0003c0008t0001g0121	1	165	0.0061	1	c.150 others(4): Show c.150dupC	p.Ile others(4): Show p.Ile51fs	MID1	ENSG00000101871.18	transcript	ENST00000317552.9	protein_coding	2/10	502/6168	150/2004	50/667		chrX	TogoVar
MID2_chrX_107820866_107936637	107905499	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19091.hp1 NA19091.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0103 a0005c0005t0001g0103	1	181	0.0055	1	c.947 others(4): Show c.947dupC	p.Gln others(5): Show p.Gln317fs	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/10	1509/7333	948/2208	316/735	INFO_REALIGN_3_PRIME	chrX	TogoVar
MID2_chrX_107820866_107936637	107916047	CA CA	C C	frameshift_variant frameshift_variant	HIGH	HG01168.hp2 HG01168.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0131 a0003c0007t0002g0131	1	181	0.0055	-1	c.112 others(5): Show c.1121delA	p.Asn others(5): Show p.Asn374fs	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	6/10	1682/7333	1121/2208	374/735	INFO_REALIGN_3_PRIME	chrX	TogoVar
MID2_chrX_107820866_107936637	107917726	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19062.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0110 a0004c0004t0001g0110	1	181	0.0055	1	c.142 others(5): Show c.1426dupG	p.Ala others(5): Show p.Ala476fs	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	7/10	1988/7333	1427/2208	476/735	INFO_REALIGN_3_PRIME	chrX	TogoVar
MIIP_chr1_12014498_12037045	12029821	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG00597.hp1 HG02055.hp2 others(8): Show HG00438.hp2 HG00597.hp1 HG02055.hp2 HG02145.hp1 HG03831.hp2 NA18955.hp2 NA18977.hp1 NA18985.hp2 NA19009.hp1 NA19010.hp2 NA19078.hp2	a0008 a0009 a0010 a0008 a0009 a0010	a0008c0007 a0009c0010 a0010c0011 a0008c0007 a0009c0010 a0010c0011	a0008c0007t0001 a0008c0007t0006 a0009c0010t0001 others(1): Show a0008c0007t0001 a0008c0007t0006 a0009c0010t0001 a0010c0011t0001	a0008c0007t0001g0001 a0008c0007t0001g0003 a0008c0007t0001g0010 others(8): Show a0008c0007t0001g0001 a0008c0007t0001g0003 a0008c0007t0001g0010 a0008c0007t0001g0038 a0008c0007t0001g0135 a0008c0007t0006g0086 a0009c0010t0001g0002 a0009c0010t0001g0004 a0009c0010t0001g0005 a0010c0011t0001g0007 a0010c0011t0001g0076	11	414	0.0266	1	c.777 others(4): Show c.777dupC	p.Cys others(5): Show p.Cys260fs	MIIP	ENSG00000116691.11	transcript	ENST00000235332.6	protein_coding	7/10	915/1541	778/1167	260/388	INFO_REALIGN_3_PRIME	chr1	TogoVar
MILR1_chr17_64444115_64473643	64452781	AGCCCATG others(6): Show AGCCCATGAATCAG	A A	frameshift_variant frameshift_variant	HIGH	NA18994.hp1 NA18994.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0189 a0008c0009t0001g0189	1	394	0.0025	-13	c.287 others(20): Show c.287_299delATGAATCAGGCCC	p.His others(4): Show p.His96fs	MILR1	ENSG00000271605.6	transcript	ENST00000619286.5	protein_coding	3/10	341/1448	287/1032	96/343	INFO_REALIGN_3_PRIME	chr17	TogoVar
MIXL1_chr1_226218664_226232060	226224010	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01109.hp1 HG03710.hp1 HG04199.hp1 others(4): Show HG01109.hp1 HG03710.hp1 HG04199.hp1 HG04228.hp2 NA18946.hp2 NA19009.hp2 NA19089.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 others(2): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0006	a0003c0004t0001g0001 a0003c0004t0002g0002 a0003c0004t0003g0002 others(3): Show a0003c0004t0001g0001 a0003c0004t0002g0002 a0003c0004t0003g0002 a0003c0004t0004g0001 a0003c0004t0004g0003 a0003c0004t0006g0001	7	428	0.0164	1	c.333 others(4): Show c.333dupC	p.Asp others(5): Show p.Asp112fs	MIXL1	ENSG00000185155.12	transcript	ENST00000366810.6	protein_coding	1/2	352/1965	334/699	112/232	INFO_REALIGN_3_PRIME	chr1	TogoVar
MKRN1_chr7_140448033_140484505	140479295	C C	CCCCACAG others(3): Show CCCCACAGTCA	frameshift_variant frameshift_variant	HIGH	NA18985.hp2 NA18985.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0008 a0008c0012t0008	a0008c0012t0008g0031 a0008c0012t0008g0031	1	434	0.0023	10	c.49_ others(15): Show c.49_50insTGACTGTGGG	p.Gly others(4): Show p.Gly17fs	MKRN1	ENSG00000133606.11	transcript	ENST00000255977.7	protein_coding	1/8	210/3094	49/1449	17/482		chr7	TogoVar
MLC1_chr22_50054391_50090426	50064040	A A	AGCACCCC others(25): Show AGCACCCCACCCCACAGGCCACTCACCTCCCCG	frameshift_variant frameshift_variant	HIGH	HG03831.hp1 HG03831.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0007 a0006c0008t0007	a0006c0008t0007g0119 a0006c0008t0007g0119	1	212	0.0047	32	c.105 others(41): Show c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGTGC	p.Ala others(5): Show p.Ala355fs	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	11/12	1183/3457	1052/1134	351/377		chr22	TogoVar
MMGT1_chrX_135955588_135978988	135967392	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0114 a0002c0002t0028g0114	1	265	0.0038	1	c.233 others(4): Show c.233dupA	p.Asn others(4): Show p.Asn78fs	MMGT1	ENSG00000169446.6	transcript	ENST00000305963.3	protein_coding	3/4	546/5145	233/396	78/131		chrX	TogoVar
MMGT1_chrX_135955588_135978988	135967424	T T	TA TA	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0114 a0002c0002t0028g0114	1	265	0.0038	1	c.201 others(4): Show c.201dupT	p.Lys others(4): Show p.Lys68fs	MMGT1	ENSG00000169446.6	transcript	ENST00000305963.3	protein_coding	3/4	514/5145	201/396	67/131		chrX	TogoVar
MMGT1_chrX_135955588_135978988	135973643	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0114 a0002c0002t0028g0114	1	265	0.0038	1	c.32d others(3): Show c.32dupG	p.Ile others(4): Show p.Ile12fs	MMGT1	ENSG00000169446.6	transcript	ENST00000305963.3	protein_coding	1/4	345/5145	32/396	11/131		chrX	TogoVar
MMP17_chr12_131823393_131856771	131828562	T T	TGCTGCCC others(6): Show TGCTGCCCGCTGCC	frameshift_variant frameshift_variant	HIGH	NA19077.hp2 NA19077.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0003 a0012c0025t0003	a0012c0025t0003g0003 a0012c0025t0003g0003	1	398	0.0025	13	c.70_ others(18): Show c.70_71insTGCCCGCTGCCGC	p.Pro others(4): Show p.Pro24fs	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding	1/10	173/2411	71/1812	24/603	INFO_REALIGN_3_PRIME	chr12	TogoVar
MMP24OS_chr20_35271352_35283122	35277779	C C	CGGGCTCG others(4): Show CGGGCTCGGGCT	frameshift_variant frameshift_variant	HIGH	NA19054.hp2 NA19054.hp2	a0000 a0000	a0000c0009 a0000c0009	a0000c0009t0004 a0000c0009t0004	a0000c0009t0004g0035 a0000c0009t0004g0035	1	374	0.0027	11	c.150 others(18): Show c.150_151insAGCCCGAGCCC	p.Glu others(4): Show p.Glu51fs	MMP24OS	ENSG00000126005.17	transcript	ENST00000456790.2	protein_coding	2/2	267/1695	150/216	50/71		chr20	TogoVar
MMP24OS_chr20_35271352_35283122	35277790	T T	TGGGGCTG others(6): Show TGGGGCTGGGGCTG	frameshift_variant frameshift_variant	HIGH	NA19060.hp2 NA19060.hp2	a0000 a0000	a0000c0014 a0000c0014	a0000c0014t0003 a0000c0014t0003	a0000c0014t0003g0033 a0000c0014t0003g0033	1	374	0.0027	13	c.127 others(20): Show c.127_139dupCAGCCCCAGCCCC	p.Gln others(4): Show p.Gln47fs	MMP24OS	ENSG00000126005.17	transcript	ENST00000456790.2	protein_coding	2/2	256/1695	139/216	47/71		chr20	TogoVar
MOK_chr14_102223836_102310164	102229315	T T	TGGGCAGG others(13): Show TGGGCAGGCGACACTGCTGCG	frameshift_variant frameshift_variant	HIGH	HG03209.hp1 HG03209.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0002 a0009c0014t0002	a0009c0014t0002g0236 a0009c0014t0002g0236	1	252	0.0040	20	c.121 others(29): Show c.1214_1233dupCGCAGCAGTGTCGCCTGCCC	p.Thr others(5): Show p.Thr412fs	MOK	ENSG00000080823.23	transcript	ENST00000361847.7	protein_coding	12/12	1429/1909	1233/1260	411/419		chr14	TogoVar
MORF4L2_chrX_103670498_103691699	103676656	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA18940.hp1 NA18940.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0005 a0003c0002t0005	a0003c0002t0005g0097 a0003c0002t0005g0097	1	312	0.0032	-1	c.371 others(4): Show c.371delA	p.Lys others(5): Show p.Lys124fs	MORF4L2	ENSG00000123562.18	transcript	ENST00000441076.7	protein_coding	4/4	707/1866	371/867	124/288		chrX	TogoVar
MORF4L2_chrX_103670498_103691699	103676669	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18940.hp1 NA18940.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0005 a0003c0002t0005	a0003c0002t0005g0097 a0003c0002t0005g0097	1	312	0.0032	-1	c.358 others(4): Show c.358delG	p.Glu others(5): Show p.Glu120fs	MORF4L2	ENSG00000123562.18	transcript	ENST00000441076.7	protein_coding	4/4	694/1866	358/867	120/288		chrX	TogoVar
MPC1L_chrX_40618428_40629136	40623579	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19087.hp2 NA19087.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0000 a0004c0004t0001g0000	1	330	0.0030	1	c.16d others(3): Show c.16dupG	p.Val others(3): Show p.Val6fs	MPC1L	ENSG00000238205.4	transcript	ENST00000423387.4	protein_coding	1/1	155/709	17/411	6/136	INFO_REALIGN_3_PRIME	chrX	TogoVar
MPO_chr17_58264855_58285935	58273466	GGGGTTGG others(7): Show GGGGTTGGGTTCCAT	G G	frameshift_variant frameshift_variant	HIGH	NA20752.hp2 NA20752.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0051 a0011c0013t0001g0051	1	356	0.0028	-14	c.155 others(23): Show c.1555_1568delATGGAACCCAACCC	p.Met others(5): Show p.Met519fs	MPO	ENSG00000005381.9	transcript	ENST00000225275.4	protein_coding	9/12	1745/3216	1555/2238	519/745		chr17	TogoVar
MPP1_chrX_154773684_154810485	154805338	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19059.hp1 NA19059.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0036 a0003c0006t0003g0036	1	265	0.0038	1	c.35d others(3): Show c.35dupG	p.Ser others(4): Show p.Ser13fs	MPP1	ENSG00000130830.15	transcript	ENST00000369534.8	protein_coding	1/12	147/2006	35/1401	12/466		chrX	TogoVar

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