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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
MBTPS1_chr16_84048763_84121942	84088686	C C	CAGGACCC others(6): Show CAGGACCCAGACAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 NA20129.hp2 HG02145.hp2 HG02559.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0301 a0001c0002t0010g0302 a0001c0002t0010g0303 a0001c0002t0010g0301 a0001c0002t0010g0302 a0001c0002t0010g0303	3	424	0.0071	13	c.103 others(32): Show c.1032-1239_1032-1227dupTTGTCTGGGTCCT	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding	8/22			chr16	TogoVar
MBTPS2_chrX_21834617_21890423	21879949	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01168.hp1 HG01433.hp1 others(6): Show HG01167.hp1 HG01168.hp1 HG01433.hp1 HG01981.hp1 HG02257.hp2 HG02615.hp1 HG03471.hp1 HG04115.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0173 others(5): Show a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0240 a0001c0001t0001g0248 a0001c0001t0002g0015 a0001c0002t0001g0076	9	308	0.0292	13	c.126 others(30): Show c.1262-939_1262-927dupTTTTTTTTTTTTT	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MC1R_chr16_89913862_89925972	89914589	T T	TGCCTGTG others(6): Show TGCCTGTGTGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02135.hp1 HG02523.hp1 HG02083.hp2 HG02135.hp1 HG02523.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	3	396	0.0076	13	c.-46 others(24): Show c.-4670_-4669insGCCTGTGTGTGGG	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		4272		chr16	TogoVar
MC1R_chr16_89913862_89925972	89916992	A A	ATATATAT others(6): Show ATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	1	396	0.0025	13	c.-22 others(24): Show c.-2267_-2266insTATATATATTTTT	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		1869		chr16	TogoVar
MC2R_chr18_13877044_13920536	13908706	T T	TTTGTGTG others(6): Show TTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01952.hp1 HG02074.hp1 others(20): Show HG01361.hp2 HG01952.hp1 HG02074.hp1 HG02109.hp2 HG02145.hp2 HG02273.hp1 HG02300.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG06807.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18965.hp2 NA18980.hp2 NA18986.hp2 NA19011.hp1 NA19030.hp1 NA19068.hp2 NA19070.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(8): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0037 a0001c0001t0044 a0001c0001t0046 a0001c0001t0081	a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0214 others(16): Show a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0006g0280 a0001c0001t0012g0281 a0001c0001t0024g0024 a0001c0001t0025g0279 a0001c0001t0027g0282 a0001c0001t0030g0085 a0001c0001t0030g0086 a0001c0001t0030g0088 a0001c0001t0037g0047 a0001c0001t0044g0087 a0001c0001t0046g0241 a0001c0001t0081g0089	23	416	0.0553	13	c.-12 others(32): Show c.-129+6781_-129+6782insCACACACACACAA	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	1/1			chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATTT others(6): Show ATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	428	0.0023	13	c.-25 others(24): Show c.-2544_-2543insAAAAAAAAATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATTTTT others(6): Show ATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(13): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG01081.hp2 HG01168.hp2 HG01192.hp1 HG01346.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02083.hp2 HG02155.hp2 HG02735.hp1 HG03669.hp1 NA18989.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	16	428	0.0374	13	c.-25 others(24): Show c.-2544_-2543insAAAAAAAAAAATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCCC1_chr3_183010218_183104496	183084343	A A	ATCTTATG others(6): Show ATCTTATGTTATGC	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18612.hp2 HG00621.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0134 a0001c0001t0001g0066 a0001c0001t0001g0134	2	344	0.0058	13	c.369 others(30): Show c.369+2349_369+2350insGCATAACATAAGA	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	4/18			chr3	TogoVar
MCCC2_chr5_71582340_71663706	71633127	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	350	0.0029	13	c.803 others(28): Show c.803+943_803+944insTTTTTTTTTTTTT	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
MCCC2_chr5_71582340_71663706	71633131	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18993.hp1 NA19085.hp1 NA18984.hp2 NA18993.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0135 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0135	3	350	0.0086	13	c.803 others(28): Show c.803+951_803+952insTTTTTTTTTTTTT	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
MCCC2_chr5_71582340_71663706	71662161	G G	GTTTAGCA others(6): Show GTTTAGCAGAAACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	350	0.0029	13	c.53 others(24): Show c.5301_*5302insTTTAGCAGAAACC	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding		3456		chr5	TogoVar
MCC_chr5_113017106_113493453	113046685	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0040 a0001c0017t0002g0040	1	160	0.0063	13	c.265 others(32): Show c.2655+2395_2655+2407dupTTTTTTTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	16/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113046710	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02040.hp1 HG02257.hp1 others(3): Show HG01361.hp2 HG02040.hp1 HG02257.hp1 HG02615.hp1 HG02622.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0008 a0001c0045 others(1): Show a0001c0007 a0001c0008 a0001c0045 a0002c0013	a0001c0007t0034 a0001c0007t0038 a0001c0008t0044 others(2): Show a0001c0007t0034 a0001c0007t0038 a0001c0008t0044 a0001c0045t0027 a0002c0013t0015	a0001c0007t0034g0073 a0001c0007t0038g0076 a0001c0008t0044g0046 others(3): Show a0001c0007t0034g0073 a0001c0007t0038g0076 a0001c0008t0044g0046 a0001c0045t0027g0061 a0002c0013t0015g0130 a0002c0013t0015g0139	6	160	0.0375	13	c.265 others(32): Show c.2655+2382_2655+2383insCTTTTTTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	16/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113086304	C C	CTTGGGGG others(6): Show CTTGGGGGTGAGAG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18983.hp2 NA19074.hp2 NA18955.hp1 NA18983.hp2 NA19074.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0127 a0002c0001t0002g0145 a0002c0001t0002g0146 a0002c0001t0002g0127 a0002c0001t0002g0145 a0002c0001t0002g0146	3	160	0.0188	13	c.139 others(30): Show c.1399-995_1399-994insCTCTCACCCCCAA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	8/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113086306	G G	GGGGGGTG others(6): Show GGGGGGTGAGAGTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(97): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00621.hp2 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG04115.hp1 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18957.hp1 NA18970.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19082.hp2 NA19083.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010	a0001c0004 a0001c0007 a0001c0008 others(35): Show a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0016 a0001c0017 a0001c0018 a0001c0021 a0001c0023 a0001c0025 a0001c0027 a0001c0028 a0001c0041 a0001c0044 a0001c0045 a0001c0047 a0001c0050 a0001c0052 a0002c0001 a0002c0029 a0002c0056 a0002c0057 a0003c0006 a0003c0014 a0003c0015 a0003c0035 a0003c0036 a0003c0038 a0003c0039 a0003c0040 a0004c0019 a0004c0055 a0005c0033 a0007c0058 a0010c0046	a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 others(66): Show a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0035 a0001c0007t0006 a0001c0007t0022 a0001c0007t0034 a0001c0007t0038 a0001c0008t0003 a0001c0008t0004 a0001c0008t0017 a0001c0008t0031 a0001c0008t0044 a0001c0009t0008 a0001c0009t0011 a0001c0010t0005 a0001c0010t0028 a0001c0011t0001 a0001c0011t0004 a0001c0012t0005 a0001c0012t0013 a0001c0016t0006 a0001c0016t0023 a0001c0017t0002 a0001c0017t0003 a0001c0017t0006 a0001c0018t0007 a0001c0021t0008 a0001c0023t0010 a0001c0023t0040 a0001c0025t0041 a0001c0025t0042 a0001c0027t0001 a0001c0028t0024 a0001c0028t0043 a0001c0041t0045 a0001c0044t0010 a0001c0045t0027 a0001c0047t0002 a0001c0050t0005 a0001c0052t0004 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0014 a0002c0001t0033 a0002c0001t0037 a0002c0029t0001 a0002c0056t0003 a0002c0057t0029 a0003c0006t0001 a0003c0006t0002 a0003c0006t0017 a0003c0014t0005 a0003c0014t0010 a0003c0015t0011 a0003c0015t0036 a0003c0035t0001 a0003c0036t0007 a0003c0038t0005 a0003c0039t0004 a0003c0040t0001 a0004c0019t0003 a0004c0019t0004 a0004c0019t0014 a0004c0055t0005 a0005c0033t0016 a0007c0058t0007 a0010c0046t0039	a0001c0004t0002g0068 a0001c0004t0002g0069 a0001c0004t0002g0098 others(97): Show a0001c0004t0002g0068 a0001c0004t0002g0069 a0001c0004t0002g0098 a0001c0004t0003g0092 a0001c0004t0003g0093 a0001c0004t0004g0086 a0001c0004t0035g0084 a0001c0007t0006g0078 a0001c0007t0006g0102 a0001c0007t0022g0108 a0001c0007t0034g0073 a0001c0007t0038g0076 a0001c0008t0003g0065 a0001c0008t0004g0066 a0001c0008t0017g0050 a0001c0008t0031g0034 a0001c0008t0044g0046 a0001c0009t0008g0072 a0001c0009t0008g0110 a0001c0009t0008g0111 a0001c0009t0011g0070 a0001c0010t0005g0033 a0001c0010t0005g0036 a0001c0010t0028g0035 a0001c0011t0001g0039 a0001c0011t0004g0048 a0001c0011t0004g0051 a0001c0011t0004g0054 a0001c0012t0005g0081 a0001c0012t0013g0088 a0001c0012t0013g0090 a0001c0012t0013g0091 a0001c0016t0006g0042 a0001c0016t0006g0052 a0001c0016t0023g0047 a0001c0017t0002g0040 a0001c0017t0003g0044 a0001c0017t0006g0055 a0001c0018t0007g0104 a0001c0018t0007g0105 a0001c0021t0008g0058 a0001c0023t0010g0059 a0001c0023t0040g0057 a0001c0025t0041g0063 a0001c0025t0042g0062 a0001c0027t0001g0071 a0001c0027t0001g0089 a0001c0028t0024g0087 a0001c0028t0043g0079 a0001c0041t0045g0067 a0001c0044t0010g0053 a0001c0045t0027g0061 a0001c0047t0002g0041 a0001c0050t0005g0106 a0001c0052t0004g0107 a0002c0001t0002g0119 a0002c0001t0002g0121 a0002c0001t0002g0123 a0002c0001t0002g0124 a0002c0001t0002g0125 a0002c0001t0002g0133 a0002c0001t0002g0144 a0002c0001t0002g0150 a0002c0001t0002g0155 a0002c0001t0003g0126 a0002c0001t0003g0136 a0002c0001t0003g0137 a0002c0001t0004g0152 a0002c0001t0004g0157 a0002c0001t0004g0158 a0002c0001t0014g0134 a0002c0001t0033g0142 a0002c0001t0037g0153 a0002c0029t0001g0131 a0002c0029t0001g0132 a0002c0056t0003g0135 a0002c0057t0029g0118 a0003c0006t0001g0011 a0003c0006t0002g0013 a0003c0006t0002g0015 a0003c0006t0002g0016 a0003c0006t0002g0017 a0003c0006t0017g0023 a0003c0014t0005g0026 a0003c0014t0010g0010 a0003c0015t0011g0030 a0003c0015t0011g0031 a0003c0015t0036g0018 a0003c0035t0001g0001 a0003c0036t0007g0007 a0003c0038t0005g0014 a0003c0039t0004g0029 a0003c0040t0001g0008 a0004c0019t0003g0113 a0004c0019t0004g0112 a0004c0019t0014g0117 a0004c0055t0005g0116 a0005c0033t0016g0005 a0007c0058t0007g0159 a0010c0046t0039g0060	100	160	0.6250	13	c.139 others(30): Show c.1399-997_1399-996insGACTCTCACCCCC	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	8/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113086307	G G	GGGGGTGA others(6): Show GGGGGTGAGAGTCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0007 a0001c0018t0007	a0001c0018t0007g0085 a0001c0018t0007g0085	1	160	0.0063	13	c.139 others(30): Show c.1399-998_1399-997insTGACTCTCACCCC	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	8/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113327561	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0005 a0003c0014t0005	a0003c0014t0005g0026 a0003c0014t0005g0026	1	160	0.0063	13	c.627 others(32): Show c.627+12957_627+12958insATATATATTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113327561	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19043.hp2 HG02723.hp2 NA19043.hp2	a0001 a0001	a0001c0017 a0001c0027 a0001c0017 a0001c0027	a0001c0017t0003 a0001c0027t0001 a0001c0017t0003 a0001c0027t0001	a0001c0017t0003g0044 a0001c0027t0001g0071 a0001c0017t0003g0044 a0001c0027t0001g0071	2	160	0.0125	13	c.627 others(32): Show c.627+12957_627+12958insATATATATATTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113327561	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0157 a0002c0001t0004g0157	1	160	0.0063	13	c.627 others(32): Show c.627+12957_627+12958insATATATATATATA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113456623	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0031 a0001c0008t0031	a0001c0008t0031g0034 a0001c0008t0031g0034	1	160	0.0063	13	c.170 others(32): Show c.170+31609_170+31621dupAAAAAAAAAAAAA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	1/18			chr5	TogoVar
MCEE_chr2_71104687_71135229	71125211	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01517.hp2 HG01109.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0143 a0001c0001t0001g0153	2	418	0.0048	13	c.41- others(26): Show c.41-669_41-668insAAAAATATATATA	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding	1/2			chr2	TogoVar
MCEE_chr2_71104687_71135229	71125211	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03453.hp1 HG00741.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0167 a0001c0010t0001g0218 a0001c0001t0001g0167 a0001c0010t0001g0218	2	418	0.0048	13	c.41- others(26): Show c.41-669_41-668insAAAAAAATATATA	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding	1/2			chr2	TogoVar
MCEE_chr2_71104687_71135229	71125211	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18973.hp2 NA19010.hp2 NA18969.hp1 NA18973.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0159 a0001c0001t0001g0049 a0001c0001t0001g0159	3	418	0.0072	13	c.41- others(26): Show c.41-669_41-668insAAAAAAAAATATA	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding	1/2			chr2	TogoVar
MCEMP1_chr19_7672090_7684829	7674877	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	448	0.0022	13	c.-22 others(24): Show c.-2244_-2243insTTTTTTTTTTTTG	MCEMP1	ENSG00000183019.8	transcript	ENST00000333598.8	protein_coding		2212		chr19	TogoVar
MCF2L2_chr3_183173041_183433619	183191233	A A	AGATTTTC others(6): Show AGATTTTCCCATAT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0020 a0020	a0020c0034 a0020c0034	a0020c0034t0001 a0020c0034t0001	a0020c0034t0001g0104 a0020c0034t0001g0104	1	176	0.0057	13	c.301 others(32): Show c.3016+1765_3016+1766insATATGGGAAAATC	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	27/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183257958	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0171 a0002c0002t0005g0171	1	176	0.0057	13	c.186 others(34): Show c.1862+18901_1862+18913dupAAAAAAAAAAAAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	15/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183374680	A A	AAAAAGAA others(6): Show AAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02970.hp1 HG03098.hp2 others(3): Show HG02717.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG06807.hp2	a0007 a0024 a0007 a0024	a0007c0005 a0024c0021 a0007c0005 a0024c0021	a0007c0005t0001 a0007c0005t0009 a0024c0021t0003 a0007c0005t0001 a0007c0005t0009 a0024c0021t0003	a0007c0005t0001g0033 a0007c0005t0001g0048 a0007c0005t0001g0053 others(3): Show a0007c0005t0001g0033 a0007c0005t0001g0048 a0007c0005t0001g0053 a0007c0005t0001g0073 a0007c0005t0009g0176 a0024c0021t0003g0027	6	176	0.0341	13	c.275 others(30): Show c.275+4616_275+4617insCTTTCTTTCTTTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183402451	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp1 HG02056.hp2 HG00741.hp1 HG01884.hp1 HG02056.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0006 a0001c0001 a0003c0003 a0006c0006	a0001c0001t0001 a0003c0003t0015 a0006c0006t0003 a0001c0001t0001 a0003c0003t0015 a0006c0006t0003	a0001c0001t0001g0007 a0003c0003t0015g0080 a0006c0006t0003g0005 a0001c0001t0001g0007 a0003c0003t0015g0080 a0006c0006t0003g0005	3	176	0.0171	13	c.77- others(30): Show c.77-12685_77-12673dupTTTTTTTTTTTTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	1/29			chr3	TogoVar
MCF2_chrX_139576770_139713167	139710436	A A	ATATATAT others(6): Show ATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp2 NA18991.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0115 a0001c0001t0001g0043 a0001c0001t0001g0115	2	249	0.0080	13	c.-23 others(24): Show c.-2376_-2375insATATATATATATA	MCF2	ENSG00000101977.22	transcript	ENST00000519895.6	protein_coding		2270		chrX	TogoVar
MCHR1_chr22_40674484_40687812	40677521	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01934.hp1 HG02135.hp2 others(6): Show HG00673.hp2 HG01934.hp1 HG02135.hp2 HG04184.hp1 HG04199.hp1 NA19057.hp1 NA19062.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0008 a0001c0001 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0006t0003 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0006t0003 a0001c0006t0004 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0006t0003g0001 others(2): Show a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0006t0003g0001 a0001c0006t0004g0001 a0001c0008t0001g0001	9	406	0.0222	13	c.-21 others(24): Show c.-2132_-2131insTTTTTTTTTTTTT	MCHR1	ENSG00000128285.5	transcript	ENST00000249016.5	protein_coding		1962		chr22	TogoVar
MCM2_chr3_127593411_127627436	127621818	G G	GCAGGATC others(6): Show GCAGGATCATTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	426	0.0024	13	c.45 others(20): Show c.45_*46insCAGGATCATTTTC	MCM2	ENSG00000073111.14	transcript	ENST00000265056.12	protein_coding	16/16	46		chr3	TogoVar
MCM3AP_chr21_46230133_46290611	46263780	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0174 a0002c0003t0001g0174	1	360	0.0028	13	c.333 others(30): Show c.3335+324_3335+336dupTTTTTTTTTTTTT	MCM3AP	ENSG00000160294.11	transcript	ENST00000291688.6	protein_coding	13/27			chr21	TogoVar
MCM6_chr2_135834626_135881443	135834787	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	394	0.0025	13	c.60 others(24): Show c.6035_*6047dupTTTTTTTTTTTTT	MCM6	ENSG00000076003.5	transcript	ENST00000264156.3	protein_coding		4838		chr2	TogoVar
MCM7_chr7_100087728_100106397	100099418	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02165.hp2 HG02698.hp1 others(4): Show HG00738.hp1 HG02165.hp2 HG02698.hp1 HG03710.hp2 HG04228.hp1 NA18747.hp1 NA19055.hp1	a0001 a0007 a0001 a0007	a0001c0004 a0007c0019 a0001c0004 a0007c0019	a0001c0004t0001 a0007c0019t0001 a0001c0004t0001 a0007c0019t0001	a0001c0004t0001g0011 a0007c0019t0001g0054 a0001c0004t0001g0011 a0007c0019t0001g0054	7	422	0.0166	13	c.277 others(26): Show c.277-28_277-16dupTTTTTTTTTTTTT	MCM7	ENSG00000166508.19	transcript	ENST00000303887.10	protein_coding	3/14			chr7	TogoVar
MCM8_chr20_5945652_6003977	5989120	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01516.hp1 HG01255.hp2 HG01516.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0077 a0001c0008t0079 a0001c0008t0077 a0001c0008t0079	a0001c0008t0077g0049 a0001c0008t0079g0049 a0001c0008t0077g0049 a0001c0008t0079g0049	2	366	0.0055	13	c.224 others(32): Show c.2240+1766_2240+1778dupTTTTTTTTTTTTT	MCM8	ENSG00000125885.13	transcript	ENST00000610722.4	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr20	TogoVar
MCM9_chr6_118808455_118940159	118824345	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01069.hp1 HG01071.hp1 others(47): Show HG00408.hp1 HG01069.hp1 HG01071.hp1 HG01192.hp1 HG01243.hp2 HG01884.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02280.hp2 HG02622.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18985.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19056.hp2 NA19060.hp1 NA19082.hp1 NA19085.hp2 NA21309.hp1	a0001 a0009 a0010 others(1): Show a0001 a0009 a0010 a0019	a0001c0002 a0001c0016 a0009c0012 others(2): Show a0001c0002 a0001c0016 a0009c0012 a0010c0013 a0019c0014	a0001c0002t0003 a0001c0002t0012 a0001c0002t0017 others(5): Show a0001c0002t0003 a0001c0002t0012 a0001c0002t0017 a0001c0002t0019 a0001c0016t0003 a0009c0012t0003 a0010c0013t0003 a0019c0014t0003	a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0103 others(45): Show a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0103 a0001c0002t0003g0109 a0001c0002t0003g0111 a0001c0002t0003g0112 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0135 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0147 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0156 a0001c0002t0012g0012 a0001c0002t0017g0113 a0001c0002t0019g0161 a0001c0016t0003g0108 a0009c0012t0003g0110 a0010c0013t0003g0136 a0019c0014t0003g0152	50	348	0.1437	13	c.196 others(32): Show c.1961+1801_1961+1802insAAAAAAAAAAAAA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	13/13			chr6	TogoVar
MCOLN1_chr19_7517624_7539009	7518544	A A	AGAAGAAG others(6): Show AGAAGAAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	414	0.0024	13	c.-42 others(24): Show c.-4207_-4206insGAAGAAGAGAGAG	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4079		chr19	TogoVar
MCOLN2_chr1_84920583_85002113	84922462	A A	ATATATAT others(6): Show ATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG03453.hp2 HG02109.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0075 a0001c0001t0001g0084	2	350	0.0057	13	c.42 others(24): Show c.4222_*4223insATATATATATATA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3120		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922463	T T	TATATATA others(6): Show TATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0130 a0006c0006t0001g0130	1	350	0.0029	13	c.42 others(24): Show c.4221_*4222insTATATATATATAT	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3119		chr1	TogoVar
MCPH1_chr8_6401627_6653508	6505354	T T	TATGTATA others(6): Show TATGTATATAAAGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0029 a0029	a0029c0058 a0029c0058	a0029c0058t0025 a0029c0058t0025	a0029c0058t0025g0224 a0029c0058t0025g0224	1	262	0.0038	13	c.221 others(32): Show c.2214+5425_2214+5426insATGTATATAAAGA	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13			chr8	TogoVar
MCPH1_chr8_6401627_6653508	6562552	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00558.hp1 others(33): Show HG00140.hp1 HG00140.hp2 HG00558.hp1 HG00639.hp2 HG00738.hp2 HG01106.hp1 HG01167.hp2 HG01256.hp1 HG01256.hp2 HG01516.hp1 HG01516.hp2 HG02132.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02738.hp2 HG02965.hp2 HG03486.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG06807.hp1 HG06807.hp2 NA18951.hp1 NA18952.hp1 NA18971.hp1 NA18982.hp1 NA18982.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0006 a0007 a0010 a0011 a0012 a0016 a0017 a0024 a0026 a0029	a0001c0001 a0001c0007 a0001c0022 others(20): Show a0001c0001 a0001c0007 a0001c0022 a0002c0023 a0002c0089 a0002c0097 a0003c0003 a0003c0005 a0003c0065 a0004c0006 a0006c0009 a0006c0027 a0007c0013 a0007c0035 a0010c0014 a0011c0011 a0011c0096 a0012c0015 a0016c0063 a0017c0092 a0024c0094 a0026c0032 a0029c0060	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 a0001c0007t0001 a0001c0007t0004 a0001c0022t0005 a0002c0023t0063 a0002c0089t0052 a0002c0097t0014 a0003c0003t0003 a0003c0003t0010 a0003c0005t0006 a0003c0065t0006 a0004c0006t0062 a0006c0009t0004 a0006c0027t0023 a0007c0013t0028 a0007c0035t0003 a0010c0014t0001 a0011c0011t0001 a0011c0096t0001 a0012c0015t0070 a0016c0063t0004 a0017c0092t0004 a0024c0094t0031 a0026c0032t0024 a0029c0060t0007	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0174 others(33): Show a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0174 a0001c0001t0001g0207 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0002g0020 a0001c0001t0002g0172 a0001c0001t0005g0008 a0001c0001t0019g0163 a0001c0007t0001g0124 a0001c0007t0001g0136 a0001c0007t0004g0135 a0001c0022t0005g0105 a0002c0023t0063g0088 a0002c0089t0052g0162 a0002c0097t0014g0126 a0003c0003t0003g0197 a0003c0003t0003g0203 a0003c0003t0010g0158 a0003c0005t0006g0152 a0003c0065t0006g0249 a0004c0006t0062g0097 a0006c0009t0004g0226 a0006c0027t0023g0227 a0007c0013t0028g0148 a0007c0035t0003g0029 a0010c0014t0001g0234 a0011c0011t0001g0048 a0011c0096t0001g0139 a0012c0015t0070g0049 a0016c0063t0004g0259 a0017c0092t0004g0251 a0024c0094t0031g0005 a0026c0032t0024g0213 a0029c0060t0007g0215	36	262	0.1374	13	c.221 others(34): Show c.2215-58895_2215-58883dupTTTTTTTTTTTTT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCPH1_chr8_6401627_6653508	6576498	T T	TCCCTTCC others(6): Show TCCCTTCCCCTTTC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0117 a0005c0004t0001g0117	1	262	0.0038	13	c.221 others(34): Show c.2215-44945_2215-44944insTCCCCTTCCCCTT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCPH1_chr8_6401627_6653508	6592653	G G	GTTGTTTG others(6): Show GTTGTTTGTTTGTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02486.hp2 others(1): Show HG01884.hp1 HG01891.hp1 HG02486.hp2 NA18522.hp2	a0001 a0008 a0028 others(1): Show a0001 a0008 a0028 a0031	a0001c0033 a0008c0054 a0028c0018 others(1): Show a0001c0033 a0008c0054 a0028c0018 a0031c0040	a0001c0033t0004 a0008c0054t0042 a0028c0018t0015 others(1): Show a0001c0033t0004 a0008c0054t0042 a0028c0018t0015 a0031c0040t0029	a0001c0033t0004g0209 a0008c0054t0042g0233 a0028c0018t0015g0113 others(1): Show a0001c0033t0004g0209 a0008c0054t0042g0233 a0028c0018t0015g0113 a0031c0040t0029g0235	4	262	0.0153	13	c.221 others(34): Show c.2215-28798_2215-28786dupGTTTGTTTGTTTT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCTP1_chr5_94698690_95290094	94912466	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02165.hp1 NA18612.hp1 HG02083.hp1 HG02165.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0008 a0001c0001t0003 a0001c0002t0008	a0001c0001t0003g0018 a0001c0001t0003g0082 a0001c0002t0008g0066 a0001c0001t0003g0018 a0001c0001t0003g0082 a0001c0002t0008g0066	3	98	0.0306	13	c.152 others(30): Show c.1521+339_1521+340insCTTTTTTTTTTTT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	9/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94952171	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02165.hp1 HG02895.hp1 others(2): Show HG02083.hp1 HG02165.hp1 HG02895.hp1 HG03471.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0008	a0001c0001t0002g0052 a0001c0001t0003g0082 a0001c0002t0001g0047 others(2): Show a0001c0001t0002g0052 a0001c0001t0003g0082 a0001c0002t0001g0047 a0001c0002t0001g0093 a0001c0002t0008g0066	5	98	0.0510	13	c.981 others(30): Show c.981+1035_981+1047dupTTTTTTTTTTTTT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	3/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95061408	G G	GTTGTTTT others(6): Show GTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02922.hp2 HG01261.hp1 HG02922.hp2	a0001 a0001	a0001c0009 a0001c0011 a0001c0009 a0001c0011	a0001c0009t0004 a0001c0011t0003 a0001c0009t0004 a0001c0011t0003	a0001c0009t0004g0014 a0001c0011t0003g0061 a0001c0009t0004g0014 a0001c0011t0003g0061	2	98	0.0204	13	c.721 others(32): Show c.721-43925_721-43924insAAAAAAAAAACAA	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94257569	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02723.hp1 NA18950.hp1 others(2): Show HG02165.hp1 HG02723.hp1 NA18950.hp1 NA19081.hp1 NA19084.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0012c0026	a0001c0001t0003 a0001c0001t0012 a0001c0002t0006 others(2): Show a0001c0001t0003 a0001c0001t0012 a0001c0002t0006 a0001c0006t0009 a0012c0026t0002	a0001c0001t0003g0093 a0001c0001t0012g0092 a0001c0002t0006g0191 others(2): Show a0001c0001t0003g0093 a0001c0001t0012g0092 a0001c0002t0006g0191 a0001c0006t0009g0057 a0012c0026t0002g0181	5	276	0.0181	13	c.-66 others(32): Show c.-66+25928_-66+25940dupTTTTTTTTTTTTT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94303064	A A	ATATATAT others(6): Show ATATATATATAGTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	276	0.0036	13	c.465 others(30): Show c.465+4345_465+4357dupGTTTATATATATA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94325812	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02738.hp1 HG02922.hp1 others(2): Show HG02257.hp1 HG02738.hp1 HG02922.hp1 HG03209.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0184 a0001c0002t0001g0003 a0001c0002t0001g0175 others(2): Show a0001c0001t0001g0184 a0001c0002t0001g0003 a0001c0002t0001g0175 a0001c0002t0006g0025 a0001c0002t0006g0191	5	276	0.0181	13	c.637 others(32): Show c.637+10189_637+10201dupTTTTTTTTTTTTT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94435629	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02559.hp1 HG02965.hp1 others(2): Show HG01081.hp2 HG02559.hp1 HG02965.hp1 HG03195.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0001c0002t0018 a0002c0004t0007 a0001c0002t0001 a0001c0002t0018 a0002c0004t0007	a0001c0002t0001g0055 a0001c0002t0001g0125 a0001c0002t0001g0161 others(2): Show a0001c0002t0001g0055 a0001c0002t0001g0125 a0001c0002t0001g0161 a0001c0002t0018g0098 a0002c0004t0007g0043	5	276	0.0181	13	c.208 others(32): Show c.2086-4539_2086-4527dupTTTTTTTTTTTTT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr15	TogoVar

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