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
MCTS1_chrX_120599101_120626159	120599888	TTAGAGCA TTAGAGCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0001 a0001c0001t0065g0001	1	316	0.0032	-7	c.-43 others(18): Show c.-4348_-4342delTAGAGCA	MCTS1	ENSG00000232119.8	transcript	ENST00000371317.10	protein_coding		4212		chrX	TogoVar
MCTS1_chrX_120599101_120626159	120599992	ACTAGACT ACTAGACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0001 a0001c0001t0065g0001	1	316	0.0032	-7	c.-42 others(18): Show c.-4244_-4238delCTAGACT	MCTS1	ENSG00000232119.8	transcript	ENST00000371317.10	protein_coding		4108		chrX	TogoVar
MCTS1_chrX_120599101_120626159	120620461	CAAAAAAA CAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0001 a0001c0001t0067g0001	1	316	0.0032	-7	c.82 others(18): Show c.8214_*8220delAAAAAAA	MCTS1	ENSG00000232119.8	transcript	ENST00000371317.10	protein_coding	6/6	8214	INFO_REALIGN_3_PRIME	chrX	TogoVar
MCUR1_chr6_13781557_13819557	13781949	ATTTTTTT ATTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01433.hp2 HG01884.hp2 others(19): Show HG01255.hp2 HG01433.hp2 HG01884.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02647.hp1 HG02683.hp2 HG03098.hp2 HG03139.hp2 HG03239.hp1 NA18971.hp1 NA18986.hp1 NA18999.hp1 NA19011.hp2 NA19030.hp2 NA19067.hp2 NA19070.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 others(8): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0027 a0001c0001t0064 a0001c0005t0005 a0001c0005t0028 a0001c0005t0041 a0002c0002t0007 a0002c0002t0078	a0001c0001t0004g0162 a0001c0001t0007g0009 a0001c0001t0007g0222 others(16): Show a0001c0001t0004g0162 a0001c0001t0007g0009 a0001c0001t0007g0222 a0001c0001t0007g0246 a0001c0001t0011g0138 a0001c0001t0011g0140 a0001c0001t0011g0141 a0001c0001t0011g0143 a0001c0001t0011g0287 a0001c0001t0017g0221 a0001c0001t0017g0226 a0001c0001t0027g0139 a0001c0001t0027g0142 a0001c0001t0064g0233 a0001c0005t0005g0297 a0001c0005t0028g0046 a0001c0005t0041g0052 a0002c0002t0007g0125 a0002c0002t0078g0129	22	424	0.0519	-7	c.88 others(18): Show c.8853_*8859delAAAAAAA	MCUR1	ENSG00000050393.12	transcript	ENST00000379170.9	protein_coding		4607		chr6	TogoVar
MCU_chr10_72687143_72892694	72824372	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00639.hp2 others(58): Show HG00140.hp2 HG00423.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02055.hp1 HG02056.hp1 HG02258.hp2 HG02572.hp2 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18959.hp2 NA18967.hp2 NA18973.hp2 NA18977.hp1 NA18987.hp1 NA19043.hp2 NA19088.hp1 NA19090.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(58): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0004g0175 a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0005t0001g0202	61	210	0.2905	-7	c.151 others(24): Show c.151-9975_151-9969delTTTTTTT	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MDC1_chr6_30694807_30722281	30706619	CTAAAAAA CTAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02027.hp2 HG02109.hp2 others(7): Show HG01074.hp2 HG02027.hp2 HG02109.hp2 HG02738.hp1 HG02970.hp1 HG03471.hp1 HG03490.hp1 HG03540.hp2 HG04115.hp1 HG06807.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0004 a0006c0008t0007 a0006c0008t0004 a0006c0008t0007	a0006c0008t0004g0033 a0006c0008t0004g0066 a0006c0008t0004g0067 others(5): Show a0006c0008t0004g0033 a0006c0008t0004g0066 a0006c0008t0004g0067 a0006c0008t0004g0068 a0006c0008t0004g0069 a0006c0008t0004g0071 a0006c0008t0007g0034 a0006c0008t0007g0070	10	413	0.0242	-7	c.308 others(24): Show c.3085-528_3085-522delTTTTTTA	MDC1	ENSG00000137337.16	transcript	ENST00000376406.8	protein_coding	9/14			chr6	TogoVar
MDFIC_chr7_114917094_115024917	114966405	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00741.hp2 others(23): Show HG00099.hp1 HG00140.hp2 HG00741.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01358.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG03654.hp1 HG03831.hp2 HG04115.hp1 HG04199.hp1 NA18941.hp1 NA18965.hp1 NA18969.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18993.hp1 NA19077.hp2 NA19087.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0034 a0001c0001t0046 a0001c0001t0049	a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0002g0074 others(22): Show a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0002g0074 a0001c0001t0007g0017 a0001c0001t0007g0172 a0001c0001t0007g0211 a0001c0001t0007g0229 a0001c0001t0007g0259 a0001c0001t0007g0274 a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0011g0073 a0001c0001t0011g0166 a0001c0001t0011g0168 a0001c0001t0013g0131 a0001c0001t0013g0142 a0001c0001t0013g0155 a0001c0001t0013g0177 a0001c0001t0013g0264 a0001c0001t0013g0282 a0001c0001t0013g0283 a0001c0001t0013g0291 a0001c0001t0034g0220 a0001c0001t0046g0156 a0001c0001t0049g0262	26	334	0.0778	-7	c.218 others(26): Show c.218-13091_218-13085delAAAAAAA	MDFIC	ENSG00000135272.13	transcript	ENST00000393486.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
MDGA1_chr6_37625679_37702883	37698228	CTCTTTCT CTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp2 NA18946.hp2 others(1): Show HG03041.hp1 HG03041.hp2 NA18946.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0001t0008 a0001c0001t0090 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0090 a0001c0005t0016	a0001c0001t0004g0285 a0001c0001t0008g0086 a0001c0001t0090g0256 others(1): Show a0001c0001t0004g0285 a0001c0001t0008g0086 a0001c0001t0090g0256 a0001c0005t0016g0309	4	402	0.0100	-7	c.-14 others(18): Show c.-1424_-1418delAGAAAGA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		346		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37701213	TATATATA TATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02129.hp2 HG02155.hp1 others(1): Show HG02040.hp1 HG02129.hp2 HG02155.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0004 a0001c0015t0073 a0001c0001t0001 a0001c0001t0004 a0001c0015t0073	a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0004g0291 others(1): Show a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0004g0291 a0001c0015t0073g0262	4	402	0.0100	-7	c.-44 others(18): Show c.-4409_-4403delTATATAT	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		3331		chr6	TogoVar
MDGA2_chr14_46835092_47680605	47020137	GCGGATCT GCGGATCT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01074.hp1 others(41): Show HG00323.hp2 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01891.hp2 HG01978.hp2 HG01981.hp1 HG02055.hp2 HG02135.hp2 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03225.hp1 HG03225.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18966.hp1 NA18966.hp2 NA18993.hp2 NA19043.hp2 NA20129.hp1 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0005 a0001c0008 others(6): Show a0001c0001 a0001c0005 a0001c0008 a0002c0002 a0002c0006 a0003c0004 a0004c0003 a0005c0007 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0005t0007 a0001c0008t0005 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0011 a0002c0002t0013 a0002c0002t0019 a0002c0006t0003 a0003c0004t0001 a0004c0003t0002 a0004c0003t0003 a0005c0007t0004 a0006c0009t0004	a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0062 others(41): Show a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0002g0040 a0001c0001t0002g0051 a0001c0001t0003g0038 a0001c0001t0003g0049 a0001c0001t0003g0070 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0004g0001 a0001c0001t0006g0041 a0001c0001t0007g0005 a0001c0001t0007g0021 a0001c0001t0007g0023 a0001c0001t0008g0013 a0001c0001t0016g0002 a0001c0001t0020g0029 a0001c0001t0021g0030 a0001c0001t0022g0031 a0001c0001t0025g0087 a0001c0001t0026g0117 a0001c0001t0027g0054 a0001c0005t0007g0024 a0001c0008t0005g0103 a0002c0002t0001g0053 a0002c0002t0001g0114 a0002c0002t0004g0007 a0002c0002t0004g0008 a0002c0002t0005g0074 a0002c0002t0005g0105 a0002c0002t0011g0014 a0002c0002t0013g0084 a0002c0002t0019g0025 a0002c0006t0003g0059 a0003c0004t0001g0100 a0004c0003t0002g0036 a0004c0003t0003g0034 a0004c0003t0003g0035 a0005c0007t0004g0009 a0006c0009t0004g0006	44	120	0.3667	-7	c.181 others(28): Show c.1819+14867_1819+14873delAGATCCG	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47161927	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG01169.hp2 others(22): Show HG01074.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp2 HG01517.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02055.hp1 HG02257.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02895.hp1 HG02922.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp2 NA18966.hp2 NA18993.hp2 NA19043.hp1 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0003 a0001c0001 a0002c0002 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0026 a0001c0001t0029 a0002c0002t0001 a0004c0003t0003	a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 others(22): Show a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0002g0042 a0001c0001t0002g0069 a0001c0001t0002g0080 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0006g0041 a0001c0001t0007g0005 a0001c0001t0009g0090 a0001c0001t0012g0017 a0001c0001t0026g0117 a0001c0001t0029g0120 a0002c0002t0001g0053 a0002c0002t0001g0081 a0002c0002t0001g0114 a0004c0003t0003g0035	25	120	0.2083	-7	c.596 others(26): Show c.596-17660_596-17654delAAAAAAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	3/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47280314	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG01175.hp2 others(8): Show HG01074.hp2 HG01109.hp2 HG01175.hp2 HG02055.hp2 HG02572.hp1 HG02698.hp1 HG03195.hp1 HG03239.hp1 HG03516.hp1 NA18994.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0020	a0001c0001t0001g0044 a0001c0001t0001g0067 a0001c0001t0001g0086 others(8): Show a0001c0001t0001g0044 a0001c0001t0001g0067 a0001c0001t0001g0086 a0001c0001t0001g0109 a0001c0001t0002g0075 a0001c0001t0002g0091 a0001c0001t0002g0097 a0001c0001t0004g0001 a0001c0001t0007g0005 a0001c0001t0008g0010 a0001c0001t0020g0029	11	120	0.0917	-7	c.420 others(26): Show c.420+21090_420+21096delTTTTTTT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	2/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47312686	TTGTTTTG TTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG01175.hp1 others(6): Show HG01074.hp1 HG01081.hp2 HG01175.hp1 HG01358.hp1 HG02647.hp2 HG02818.hp2 HG03195.hp2 HG03579.hp1 NA18994.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 others(6): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0005t0001 a0001c0005t0007 a0002c0002t0011	a0001c0001t0004g0016 a0001c0001t0007g0021 a0001c0001t0012g0019 others(6): Show a0001c0001t0004g0016 a0001c0001t0007g0021 a0001c0001t0012g0019 a0001c0001t0016g0002 a0001c0001t0021g0030 a0001c0001t0022g0031 a0001c0005t0001g0064 a0001c0005t0007g0024 a0002c0002t0011g0020	9	120	0.0750	-7	c.281 others(26): Show c.281-11143_281-11137delCAAAACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47528993	CAAACTTT CAAACTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00735.hp1 others(90): Show HG00323.hp1 HG00323.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18966.hp1 NA18966.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0001c0008 others(5): Show a0001c0001 a0001c0005 a0001c0008 a0002c0002 a0002c0006 a0002c0010 a0003c0004 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0005t0001 a0001c0005t0007 a0001c0008t0005 a0002c0002t0001 a0002c0002t0005 a0002c0002t0009 a0002c0002t0011 a0002c0002t0019 a0002c0006t0003 a0002c0010t0005 a0003c0004t0001 a0003c0004t0024 a0004c0003t0002 a0004c0003t0003	a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 others(90): Show a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0003g0038 a0001c0001t0003g0049 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0118 a0001c0001t0004g0001 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0006g0041 a0001c0001t0006g0061 a0001c0001t0006g0082 a0001c0001t0006g0098 a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0007g0021 a0001c0001t0007g0023 a0001c0001t0008g0010 a0001c0001t0008g0013 a0001c0001t0008g0018 a0001c0001t0009g0090 a0001c0001t0010g0026 a0001c0001t0010g0027 a0001c0001t0010g0028 a0001c0001t0012g0017 a0001c0001t0012g0019 a0001c0001t0013g0116 a0001c0001t0015g0046 a0001c0001t0015g0115 a0001c0001t0016g0002 a0001c0001t0017g0011 a0001c0001t0020g0029 a0001c0001t0021g0030 a0001c0001t0022g0031 a0001c0001t0023g0033 a0001c0001t0026g0117 a0001c0001t0027g0054 a0001c0001t0028g0102 a0001c0001t0029g0120 a0001c0005t0001g0064 a0001c0005t0007g0024 a0001c0008t0005g0103 a0002c0002t0001g0053 a0002c0002t0001g0081 a0002c0002t0001g0114 a0002c0002t0005g0105 a0002c0002t0005g0107 a0002c0002t0009g0039 a0002c0002t0009g0113 a0002c0002t0011g0014 a0002c0002t0011g0020 a0002c0002t0019g0025 a0002c0006t0003g0059 a0002c0010t0005g0119 a0003c0004t0001g0100 a0003c0004t0024g0032 a0004c0003t0002g0036 a0004c0003t0003g0034 a0004c0003t0003g0035	93	120	0.7750	-7	c.280 others(28): Show c.280+145517_280+145523delAAAGTTT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47537573	TTAAAAAA TTAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp2 HG02451.hp2 others(5): Show HG00741.hp2 HG01099.hp2 HG02451.hp2 HG02572.hp2 HG02818.hp1 HG03195.hp1 HG03486.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0010 a0001c0001 a0002c0002 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0002c0002t0005 a0002c0002t0009 a0002c0010t0005	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0002g0106 others(5): Show a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0002g0106 a0001c0001t0013g0116 a0002c0002t0005g0105 a0002c0002t0005g0107 a0002c0002t0009g0113 a0002c0010t0005g0119	8	120	0.0667	-7	c.280 others(28): Show c.280+136937_280+136943delTTTTTTA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47537574	TAAAAAAA TAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02135.hp2 HG02683.hp1 others(1): Show HG01884.hp1 HG02135.hp2 HG02683.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0020	a0001c0001t0006g0048 a0001c0001t0007g0023 a0001c0001t0008g0013 others(1): Show a0001c0001t0006g0048 a0001c0001t0007g0023 a0001c0001t0008g0013 a0001c0001t0020g0029	4	120	0.0333	-7	c.280 others(28): Show c.280+136936_280+136942delTTTTTTT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDH2_chr7_76043106_76072508	76048981	CGGGGGGG CGGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00621.hp2 others(62): Show HG00323.hp1 HG00438.hp1 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG01099.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01928.hp1 HG01943.hp2 HG02040.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02148.hp2 HG02293.hp2 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18965.hp1 NA18966.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA19002.hp1 NA19004.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp2 NA19062.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19081.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0001 a0002c0002t0002 a0004c0007t0002 a0001c0001t0001 a0002c0002t0002 a0004c0007t0002	a0001c0001t0001g0183 a0002c0002t0002g0001 a0002c0002t0002g0018 others(20): Show a0001c0001t0001g0183 a0002c0002t0002g0001 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0004c0007t0002g0001	65	398	0.1633	-7	c.66+ others(20): Show c.66+766_66+772delGGGGGGG	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
MDM2_chr12_68803177_68850544	68833126	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp1 HG03139.hp1 others(3): Show HG02559.hp2 HG02630.hp1 HG03139.hp1 HG03486.hp2 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0008 a0001c0002t0032 others(1): Show a0001c0002t0006 a0001c0002t0008 a0001c0002t0032 a0001c0002t0034	a0001c0002t0006g0175 a0001c0002t0008g0164 a0001c0002t0008g0165 others(3): Show a0001c0002t0006g0175 a0001c0002t0008g0164 a0001c0002t0008g0165 a0001c0002t0008g0173 a0001c0002t0032g0179 a0001c0002t0034g0166	6	388	0.0155	-7	c.685 others(24): Show c.685-2685_685-2679delAAAAAAA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
MDM2_chr12_68803177_68850544	68833187	AAATATAT AAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02074.hp2 HG02132.hp1 others(16): Show HG02040.hp1 HG02074.hp2 HG02132.hp1 HG03831.hp1 NA18948.hp2 NA18962.hp1 NA18966.hp1 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18987.hp2 NA19001.hp2 NA19003.hp1 NA19007.hp1 NA19011.hp2 NA19058.hp1 NA19060.hp2 NA19085.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0030 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0030 a0001c0001t0042	a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0209 others(13): Show a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0209 a0001c0001t0003g0213 a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0230 a0001c0001t0003g0235 a0001c0001t0007g0006 a0001c0001t0007g0012 a0001c0001t0007g0033 a0001c0001t0007g0211 a0001c0001t0007g0229 a0001c0001t0007g0236 a0001c0001t0030g0216 a0001c0001t0042g0033	19	388	0.0490	-7	c.685 others(24): Show c.685-2631_685-2625delATATAAT	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
MDM4_chr1_204511406_204563120	204551461	CTTTTTTT CTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp2 others(85): Show HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp2 HG01070.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01255.hp2 HG01433.hp2 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02523.hp1 HG02698.hp2 HG02897.hp1 HG02970.hp1 HG03017.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18945.hp1 NA18949.hp1 NA18950.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18981.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18993.hp1 NA18997.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19054.hp2 NA19055.hp2 NA19065.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA20300.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0004 a0005c0012 others(1): Show a0001c0001 a0001c0004 a0005c0012 a0006c0011	a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 others(21): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0028 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0091 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0099 a0001c0001t0106 a0001c0004t0034 a0005c0012t0077 a0006c0011t0010	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0019 others(70): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0019 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0010g0002 a0001c0001t0010g0029 a0001c0001t0010g0107 a0001c0001t0012g0002 a0001c0001t0012g0117 a0001c0001t0012g0137 a0001c0001t0012g0153 a0001c0001t0013g0121 a0001c0001t0013g0122 a0001c0001t0013g0123 a0001c0001t0013g0147 a0001c0001t0020g0011 a0001c0001t0020g0072 a0001c0001t0020g0079 a0001c0001t0028g0028 a0001c0001t0028g0116 a0001c0001t0078g0113 a0001c0001t0079g0156 a0001c0001t0080g0119 a0001c0001t0081g0115 a0001c0001t0082g0142 a0001c0001t0083g0152 a0001c0001t0084g0002 a0001c0001t0085g0005 a0001c0001t0091g0150 a0001c0001t0093g0129 a0001c0001t0095g0144 a0001c0001t0096g0185 a0001c0001t0098g0002 a0001c0001t0099g0154 a0001c0001t0106g0099 a0001c0004t0034g0018 a0005c0012t0077g0148 a0006c0011t0010g0002	88	372	0.2366	-7	c.18 others(18): Show c.1802_*1808delTTTTTTT	MDM4	ENSG00000198625.14	transcript	ENST00000367182.8	protein_coding	11/11	1802	INFO_REALIGN_3_PRIME	chr1	TogoVar
MDN1_chr6_89637498_89824794	89670163	TATATATA TATATATA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01070.hp1 HG01071.hp2 others(29): Show HG00597.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01192.hp2 HG01517.hp1 HG01975.hp1 HG02056.hp2 HG02074.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02735.hp2 HG03834.hp2 NA18747.hp1 NA18953.hp2 NA18960.hp2 NA18961.hp1 NA18967.hp1 NA18969.hp2 NA18974.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19012.hp2 NA19062.hp1 NA19066.hp1 NA19079.hp2	a0002 a0007 a0021 a0002 a0007 a0021	a0002c0002 a0002c0011 a0007c0006 others(1): Show a0002c0002 a0002c0011 a0007c0006 a0021c0025	a0002c0002t0001 a0002c0002t0008 a0002c0011t0001 others(2): Show a0002c0002t0001 a0002c0002t0008 a0002c0011t0001 a0007c0006t0001 a0021c0025t0001	a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 others(29): Show a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0044 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0058 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0099 a0002c0002t0008g0001 a0002c0002t0008g0002 a0002c0011t0001g0039 a0002c0011t0001g0040 a0002c0011t0001g0041 a0002c0011t0001g0042 a0002c0011t0001g0045 a0002c0011t0001g0049 a0002c0011t0001g0051 a0007c0006t0001g0220 a0021c0025t0001g0024	32	290	0.1103	-7	c.139 others(26): Show c.13956+749_13956+755delTATATAT	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89670164	ATATATAT ATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG02109.hp1 others(9): Show HG00642.hp2 HG00741.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02300.hp2 HG02451.hp2 HG02630.hp1 HG03041.hp2 HG03130.hp1 HG03471.hp2 HG03516.hp2	a0002 a0009 a0046 others(1): Show a0002 a0009 a0046 a0049	a0002c0002 a0002c0027 a0002c0031 others(3): Show a0002c0002 a0002c0027 a0002c0031 a0009c0012 a0046c0032 a0049c0024	a0002c0002t0001 a0002c0027t0001 a0002c0031t0001 others(3): Show a0002c0002t0001 a0002c0027t0001 a0002c0031t0001 a0009c0012t0001 a0046c0032t0001 a0049c0024t0001	a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0122 others(9): Show a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0122 a0002c0002t0001g0256 a0002c0027t0001g0096 a0002c0031t0001g0100 a0009c0012t0001g0065 a0009c0012t0001g0079 a0009c0012t0001g0092 a0009c0012t0001g0094 a0046c0032t0001g0091 a0049c0024t0001g0211	12	290	0.0414	-7	c.139 others(26): Show c.13956+748_13956+754delATATATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
ME2_chr18_50874118_50959257	50950467	CTTTTTTT CTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp1 HG01106.hp2 HG01361.hp2 others(6): Show HG01074.hp1 HG01106.hp2 HG01361.hp2 HG01884.hp1 HG02109.hp2 HG02257.hp1 HG03130.hp2 HG03139.hp1 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0012 a0001c0001t0038 a0001c0001t0084 others(2): Show a0001c0001t0012 a0001c0001t0038 a0001c0001t0084 a0003c0007t0012 a0003c0007t0161	a0001c0001t0012g0006 a0001c0001t0012g0186 a0001c0001t0012g0187 others(6): Show a0001c0001t0012g0006 a0001c0001t0012g0186 a0001c0001t0012g0187 a0001c0001t0012g0188 a0001c0001t0038g0006 a0001c0001t0038g0185 a0001c0001t0084g0099 a0003c0007t0012g0184 a0003c0007t0161g0311	9	342	0.0263	-7	c.33 others(18): Show c.3305_*3311delTTTTTTT	ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding	16/16	3305	INFO_REALIGN_3_PRIME	chr18	TogoVar
ME2_chr18_50874118_50959257	50951866	CAAAAAAA CAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01081.hp2 others(3): Show HG00639.hp1 HG00642.hp1 HG01081.hp2 HG01934.hp2 HG03688.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0104 a0002c0002t0115 others(1): Show a0002c0002t0020 a0002c0002t0104 a0002c0002t0115 a0002c0002t0176	a0002c0002t0020g0120 a0002c0002t0020g0322 a0002c0002t0020g0323 others(3): Show a0002c0002t0020g0120 a0002c0002t0020g0322 a0002c0002t0020g0323 a0002c0002t0104g0324 a0002c0002t0115g0164 a0002c0002t0176g0183	6	342	0.0175	-7	c.47 others(18): Show c.4713_*4719delAAAAAAA	ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding	16/16	4713	INFO_REALIGN_3_PRIME	chr18	TogoVar
ME3_chr11_86436108_86677616	86447855	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00597.hp1 others(44): Show HG00423.hp1 HG00558.hp1 HG00597.hp1 HG01934.hp2 HG02004.hp2 HG02132.hp1 HG02486.hp1 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG03471.hp2 HG03486.hp2 HG03669.hp1 HG03831.hp1 HG03927.hp2 HG04228.hp2 HG06807.hp1 NA18940.hp1 NA18946.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19060.hp2 NA19066.hp2 NA19072.hp1 NA19081.hp1 NA19082.hp1 NA19085.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0017 a0001c0020	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0017t0001 a0001c0020t0001	a0001c0001t0001g0008 a0001c0001t0001g0047 a0001c0001t0001g0061 others(44): Show a0001c0001t0001g0008 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0234 a0001c0001t0002g0302 a0001c0001t0002g0311 a0001c0002t0001g0116 a0001c0002t0001g0128 a0001c0002t0002g0244 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0266 a0001c0006t0001g0102 a0001c0006t0001g0134 a0001c0017t0001g0114 a0001c0020t0001g0143	47	320	0.1469	-7	c.123 others(24): Show c.1237+288_1237+294delTTTTTTT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	11/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86618299	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(75): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00673.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01256.hp1 HG01358.hp2 HG01433.hp2 HG01884.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03130.hp1 HG03195.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp2 HG03710.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18970.hp2 NA18972.hp2 NA18974.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18993.hp1 NA19002.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19068.hp1 NA19084.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0015 others(6): Show a0001c0001 a0001c0002 a0001c0015 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0018 a0004c0016	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0015t0002 a0002c0004t0004 a0002c0005t0002 a0002c0007t0001 a0002c0007t0002 a0002c0008t0002 a0002c0018t0004 a0004c0016t0002	a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0001t0002g0217 others(75): Show a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0001t0002g0217 a0001c0001t0002g0232 a0001c0001t0002g0257 a0001c0001t0002g0274 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0316 a0001c0002t0001g0019 a0001c0002t0001g0060 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0226 a0001c0002t0002g0230 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0266 a0001c0002t0002g0269 a0001c0002t0002g0271 a0001c0002t0002g0279 a0001c0002t0002g0287 a0001c0002t0002g0296 a0001c0002t0002g0307 a0001c0015t0002g0227 a0002c0004t0004g0224 a0002c0004t0004g0275 a0002c0004t0004g0276 a0002c0004t0004g0277 a0002c0004t0004g0278 a0002c0005t0002g0248 a0002c0005t0002g0253 a0002c0005t0002g0254 a0002c0005t0002g0270 a0002c0005t0002g0309 a0002c0007t0001g0011 a0002c0007t0001g0044 a0002c0007t0001g0045 a0002c0007t0002g0304 a0002c0007t0002g0313 a0002c0008t0002g0233 a0002c0008t0002g0252 a0002c0008t0002g0267 a0002c0018t0004g0284 a0004c0016t0002g0211	78	320	0.2438	-7	c.183 others(26): Show c.183+53456_183+53462delTTTTTTT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
MEAK7_chr16_84471355_84509659	84472398	AAAAAAAG AAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02083.hp1 HG02683.hp2 others(4): Show HG00423.hp1 HG02083.hp1 HG02683.hp2 HG02717.hp1 NA19007.hp1 NA19009.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0170 a0001c0002t0026 a0001c0002t0038 others(3): Show a0001c0001t0170 a0001c0002t0026 a0001c0002t0038 a0001c0002t0083 a0001c0002t0143 a0001c0005t0149	a0001c0001t0170g0329 a0001c0002t0026g0309 a0001c0002t0038g0302 others(4): Show a0001c0001t0170g0329 a0001c0002t0026g0309 a0001c0002t0038g0302 a0001c0002t0038g0307 a0001c0002t0083g0194 a0001c0002t0143g0328 a0001c0005t0149g0296	7	468	0.0150	-7	c.75 others(18): Show c.7508_*7514delCTTTTTT	MEAK7	ENSG00000140950.16	transcript	ENST00000343629.11	protein_coding		3956		chr16	TogoVar
MEAK7_chr16_84471355_84509659	84490443	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00438.hp2 others(31): Show HG00140.hp1 HG00438.hp1 HG00438.hp2 HG00673.hp2 HG02027.hp1 HG02083.hp1 HG02135.hp2 HG02165.hp1 HG02572.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 NA18906.hp1 NA18949.hp2 NA18960.hp1 NA18965.hp2 NA18975.hp2 NA18978.hp1 NA18980.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19066.hp2 NA19067.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19080.hp1	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0017 a0002c0003 a0019c0028	a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 others(19): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0012 a0001c0002t0023 a0001c0002t0034 a0001c0002t0038 a0001c0002t0059 a0001c0002t0061 a0001c0002t0063 a0001c0002t0081 a0001c0002t0083 a0001c0002t0189 a0001c0002t0195 a0001c0006t0044 a0001c0006t0069 a0001c0017t0175 a0002c0003t0007 a0019c0028t0002	a0001c0001t0004g0306 a0001c0002t0001g0019 a0001c0002t0001g0144 others(31): Show a0001c0001t0004g0306 a0001c0002t0001g0019 a0001c0002t0001g0144 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0002g0018 a0001c0002t0002g0116 a0001c0002t0002g0304 a0001c0002t0003g0409 a0001c0002t0004g0025 a0001c0002t0004g0097 a0001c0002t0004g0105 a0001c0002t0004g0297 a0001c0002t0004g0300 a0001c0002t0006g0094 a0001c0002t0006g0178 a0001c0002t0006g0420 a0001c0002t0012g0274 a0001c0002t0012g0303 a0001c0002t0023g0305 a0001c0002t0034g0175 a0001c0002t0038g0302 a0001c0002t0059g0179 a0001c0002t0061g0285 a0001c0002t0063g0289 a0001c0002t0081g0325 a0001c0002t0083g0194 a0001c0002t0189g0286 a0001c0002t0195g0294 a0001c0006t0044g0182 a0001c0006t0069g0447 a0001c0017t0175g0184 a0002c0003t0007g0095 a0019c0028t0002g0258	34	468	0.0727	-7	c.385 others(24): Show c.385-1028_385-1022delAAAAAAA	MEAK7	ENSG00000140950.16	transcript	ENST00000343629.11	protein_coding	3/7			chr16	TogoVar
MECOM_chr3_169078507_169668712	169097817	TAAAAAAA TAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02257.hp2 HG02723.hp1 others(8): Show HG01433.hp2 HG02257.hp2 HG02723.hp1 HG02897.hp1 HG03130.hp2 HG03486.hp1 HG03516.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0002c0002t0003	a0001c0001t0001g0055 a0001c0001t0003g0031 a0001c0001t0003g0039 others(8): Show a0001c0001t0001g0055 a0001c0001t0003g0031 a0001c0001t0003g0039 a0001c0001t0006g0125 a0001c0001t0007g0135 a0001c0001t0008g0107 a0001c0001t0008g0114 a0001c0001t0009g0141 a0001c0001t0009g0145 a0002c0002t0003g0038 a0002c0002t0003g0041	11	160	0.0688	-7	c.285 others(26): Show c.2850-2579_2850-2573delTTTTTTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	12/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169223268	TCCCTCCC TCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(30): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00738.hp1 HG01081.hp1 HG01361.hp1 HG01496.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02965.hp2 HG03139.hp1 HG03492.hp2 HG03540.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18952.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18988.hp2 NA19011.hp1 NA19060.hp1 NA19066.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0002c0002 a0003c0005 a0006c0015	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(24): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0030 a0001c0001t0033 a0001c0001t0037 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0044 a0001c0004t0002 a0001c0006t0050 a0001c0007t0001 a0001c0007t0012 a0001c0012t0007 a0002c0002t0015 a0002c0002t0043 a0003c0005t0018 a0006c0015t0022	a0001c0001t0004g0061 a0001c0001t0005g0094 a0001c0001t0007g0130 others(30): Show a0001c0001t0004g0061 a0001c0001t0005g0094 a0001c0001t0007g0130 a0001c0001t0007g0137 a0001c0001t0009g0139 a0001c0001t0010g0077 a0001c0001t0010g0079 a0001c0001t0010g0081 a0001c0001t0011g0022 a0001c0001t0016g0066 a0001c0001t0016g0069 a0001c0001t0017g0106 a0001c0001t0017g0108 a0001c0001t0020g0128 a0001c0001t0021g0152 a0001c0001t0026g0005 a0001c0001t0030g0011 a0001c0001t0033g0018 a0001c0001t0037g0034 a0001c0003t0001g0051 a0001c0003t0002g0075 a0001c0003t0002g0078 a0001c0003t0003g0042 a0001c0003t0044g0138 a0001c0004t0002g0090 a0001c0006t0050g0157 a0001c0007t0001g0054 a0001c0007t0012g0030 a0001c0012t0007g0136 a0002c0002t0015g0017 a0002c0002t0043g0126 a0003c0005t0018g0009 a0006c0015t0022g0001	33	160	0.2063	-7	c.376 others(26): Show c.376-79443_376-79437delGGGAGGG	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169378506	AAAGAAAG AAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp2 HG02922.hp1 others(6): Show HG02630.hp2 HG02717.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp1 HG03471.hp2 NA18943.hp1 NA18963.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0009 others(1): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(6): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0003t0001 a0001c0003t0005 a0001c0009t0007 a0002c0002t0053	a0001c0001t0002g0092 a0001c0001t0006g0124 a0001c0001t0008g0111 others(6): Show a0001c0001t0002g0092 a0001c0001t0006g0124 a0001c0001t0008g0111 a0001c0001t0011g0023 a0001c0001t0016g0064 a0001c0003t0001g0043 a0001c0003t0005g0098 a0001c0009t0007g0132 a0002c0002t0053g0159	9	160	0.0563	-7	c.375 others(24): Show c.375+2674_375+2680delCTTTCTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169378511	AAGAAAAG AAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02896.hp1 NA18962.hp1 others(1): Show HG00438.hp2 HG02896.hp1 NA18962.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0044	a0001c0001t0001g0048 a0001c0001t0002g0076 a0001c0001t0005g0096 others(1): Show a0001c0001t0001g0048 a0001c0001t0002g0076 a0001c0001t0005g0096 a0001c0003t0044g0138	4	160	0.0250	-7	c.375 others(24): Show c.375+2669_375+2675delCTTTTCT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169378515	AAAGAAAG AAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02886.hp2 NA18941.hp1 others(1): Show HG01361.hp2 HG02886.hp2 NA18941.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0049 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0049 a0002c0002t0027	a0001c0001t0001g0056 a0001c0001t0002g0084 a0001c0001t0049g0155 others(1): Show a0001c0001t0001g0056 a0001c0001t0002g0084 a0001c0001t0049g0155 a0002c0002t0027g0006	4	160	0.0250	-7	c.375 others(24): Show c.375+2665_375+2671delCTTTCTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169504150	AGTGTGTG AGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01361.hp1 HG02486.hp2 others(10): Show HG01175.hp1 HG01361.hp1 HG02486.hp2 HG02717.hp1 HG02896.hp1 HG03130.hp2 HG03225.hp2 HG03471.hp2 HG03492.hp1 HG03540.hp2 HG04204.hp2 HG06807.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0010 a0002c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0023 a0001c0003t0006 a0001c0004t0001 a0001c0004t0052 a0002c0010t0014 a0002c0011t0012	a0001c0001t0001g0048 a0001c0001t0003g0037 a0001c0001t0004g0070 others(10): Show a0001c0001t0001g0048 a0001c0001t0003g0037 a0001c0001t0004g0070 a0001c0001t0006g0121 a0001c0001t0006g0124 a0001c0001t0006g0125 a0001c0001t0010g0081 a0001c0001t0023g0002 a0001c0003t0006g0122 a0001c0004t0001g0059 a0001c0004t0052g0158 a0002c0010t0014g0149 a0002c0011t0012g0027	13	160	0.0813	-7	c.38- others(26): Show c.38-122633_38-122627delCACACAC	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169663523	TCTCTCTC TCTCTCTC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02015.hp1 HG02056.hp2 HG02451.hp2 others(1): Show HG02015.hp1 HG02056.hp2 HG02451.hp2 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0001c0001t0031 a0002c0002t0015 a0001c0001t0015 a0001c0001t0031 a0002c0002t0015	a0001c0001t0015g0014 a0001c0001t0015g0016 a0001c0001t0031g0015 others(1): Show a0001c0001t0015g0014 a0001c0001t0015g0016 a0001c0001t0031g0015 a0002c0002t0015g0017	4	160	0.0250	-7	c.-15 others(16): Show c.-158_-152delGAGAGAG	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/17	152		chr3	TogoVar
MECP2_chrX_154016573_154102717	154068868	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0098 a0001c0001t0016g0098	1	230	0.0044	-7	c.26+ others(24): Show c.26+23309_26+23315delAAAAAAA	MECP2	ENSG00000169057.25	transcript	ENST00000303391.11	protein_coding	2/3			chrX	TogoVar
MECP2_chrX_154016573_154102717	154089148	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04228.hp1 HG04204.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0051 a0001c0001t0002 a0001c0009t0051	a0001c0001t0002g0051 a0001c0009t0051g0220 a0001c0001t0002g0051 a0001c0009t0051g0220	2	230	0.0087	-7	c.26+ others(22): Show c.26+3029_26+3035delTTTTTTT	MECP2	ENSG00000169057.25	transcript	ENST00000303391.11	protein_coding	2/3			chrX	TogoVar
MECR_chr1_29187657_29235934	29214061	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01257.hp2 HG01258.hp2 others(3): Show HG01123.hp2 HG01257.hp2 HG01258.hp2 HG01496.hp1 HG02615.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0126 a0001c0001t0003g0025 a0001c0001t0003g0125 others(2): Show a0001c0001t0001g0126 a0001c0001t0003g0025 a0001c0001t0003g0125 a0001c0001t0003g0131 a0001c0001t0003g0136	6	384	0.0156	-7	c.406 others(24): Show c.406+1937_406+1943delAAAAAAA	MECR	ENSG00000116353.16	transcript	ENST00000263702.11	protein_coding	3/9			chr1	TogoVar
MED12L_chr3_151080664_151441653	151207693	AGTGGAAG AGTGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02015.hp1 HG02056.hp1 others(16): Show HG00544.hp2 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG03834.hp2 NA18964.hp2 NA18970.hp1 NA18972.hp2 NA18977.hp1 NA18979.hp1 NA18989.hp2 NA18994.hp2 NA19002.hp1 NA19006.hp1 NA19060.hp2 NA19084.hp2	a0001 a0006 a0001 a0006	a0001c0008 a0001c0011 a0001c0015 others(3): Show a0001c0008 a0001c0011 a0001c0015 a0001c0020 a0001c0026 a0006c0027	a0001c0008t0001 a0001c0008t0002 a0001c0008t0013 others(11): Show a0001c0008t0001 a0001c0008t0002 a0001c0008t0013 a0001c0008t0017 a0001c0008t0028 a0001c0008t0048 a0001c0011t0001 a0001c0011t0002 a0001c0015t0002 a0001c0015t0009 a0001c0020t0001 a0001c0020t0033 a0001c0026t0001 a0006c0027t0001	a0001c0008t0001g0016 a0001c0008t0002g0010 a0001c0008t0013g0021 others(16): Show a0001c0008t0001g0016 a0001c0008t0002g0010 a0001c0008t0013g0021 a0001c0008t0017g0011 a0001c0008t0028g0014 a0001c0008t0048g0009 a0001c0011t0001g0019 a0001c0011t0001g0022 a0001c0011t0001g0046 a0001c0011t0001g0047 a0001c0011t0001g0244 a0001c0011t0002g0020 a0001c0015t0002g0015 a0001c0015t0002g0018 a0001c0015t0009g0245 a0001c0020t0001g0017 a0001c0020t0033g0023 a0001c0026t0001g0045 a0006c0027t0001g0008	19	280	0.0679	-7	c.225 others(28): Show c.2250+14031_2250+14037delGAAGGTG	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151317436	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp2 HG02809.hp1 others(2): Show HG02109.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0013 others(1): Show a0001c0002 a0001c0007 a0001c0013 a0001c0019	a0001c0002t0053 a0001c0007t0007 a0001c0013t0050 others(1): Show a0001c0002t0053 a0001c0007t0007 a0001c0013t0050 a0001c0019t0002	a0001c0002t0053g0005 a0001c0007t0007g0036 a0001c0013t0050g0109 others(2): Show a0001c0002t0053g0005 a0001c0007t0007g0036 a0001c0013t0050g0109 a0001c0019t0002g0024 a0001c0019t0002g0025	5	280	0.0179	-7	c.225 others(28): Show c.2251-32599_2251-32593delTTTTTTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151345517	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG00741.hp2 others(21): Show HG00621.hp1 HG00673.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG02074.hp1 HG02132.hp1 HG02135.hp2 HG03017.hp1 HG03490.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp2 NA18942.hp1 NA18964.hp2 NA18970.hp1 NA18971.hp1 NA18986.hp1 NA19010.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19082.hp1 NA19084.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0007 others(7): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0001c0010 a0001c0032 a0001c0038 a0002c0003 a0003c0006 a0006c0027	a0001c0001t0003 a0001c0001t0047 a0001c0002t0001 others(15): Show a0001c0001t0003 a0001c0001t0047 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0049 a0001c0007t0001 a0001c0008t0002 a0001c0008t0017 a0001c0008t0028 a0001c0008t0048 a0001c0010t0002 a0001c0032t0035 a0001c0038t0001 a0002c0003t0002 a0002c0003t0003 a0003c0006t0003 a0006c0027t0001	a0001c0001t0003g0205 a0001c0001t0047g0207 a0001c0002t0001g0106 others(21): Show a0001c0001t0003g0205 a0001c0001t0047g0207 a0001c0002t0001g0106 a0001c0002t0001g0117 a0001c0002t0001g0163 a0001c0002t0001g0166 a0001c0002t0001g0189 a0001c0002t0002g0220 a0001c0002t0003g0279 a0001c0002t0049g0123 a0001c0007t0001g0040 a0001c0008t0002g0010 a0001c0008t0017g0011 a0001c0008t0028g0014 a0001c0008t0048g0009 a0001c0010t0002g0253 a0001c0032t0035g0130 a0001c0038t0001g0231 a0002c0003t0002g0056 a0002c0003t0003g0119 a0002c0003t0003g0120 a0003c0006t0003g0102 a0003c0006t0003g0152 a0006c0027t0001g0008	24	280	0.0857	-7	c.225 others(26): Show c.2251-4531_2251-4525delTTTTTTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151392467	GAAAAAAA GAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01257.hp1 HG01928.hp2 others(19): Show HG01123.hp2 HG01257.hp1 HG01928.hp2 HG01952.hp1 HG01993.hp2 HG02015.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02300.hp1 HG03017.hp1 HG03831.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18971.hp1 NA18979.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA19077.hp2 NA19081.hp2	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0005 a0001c0007 a0001c0011 others(5): Show a0001c0005 a0001c0007 a0001c0011 a0001c0026 a0001c0035 a0001c0038 a0005c0034 a0009c0036	a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 others(8): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0007t0001 a0001c0011t0001 a0001c0011t0002 a0001c0026t0001 a0001c0035t0001 a0001c0038t0001 a0005c0034t0001 a0009c0036t0001	a0001c0005t0001g0044 a0001c0005t0001g0088 a0001c0005t0001g0139 others(19): Show a0001c0005t0001g0044 a0001c0005t0001g0088 a0001c0005t0001g0139 a0001c0005t0001g0167 a0001c0005t0001g0186 a0001c0005t0001g0187 a0001c0005t0001g0225 a0001c0005t0001g0252 a0001c0005t0002g0077 a0001c0005t0002g0190 a0001c0005t0002g0194 a0001c0005t0002g0254 a0001c0005t0005g0271 a0001c0007t0001g0040 a0001c0011t0001g0019 a0001c0011t0001g0047 a0001c0011t0002g0020 a0001c0026t0001g0045 a0001c0035t0001g0278 a0001c0038t0001g0231 a0005c0034t0001g0198 a0009c0036t0001g0042	22	280	0.0786	-7	c.560 others(26): Show c.5609-2173_5609-2167delAAAAAAA	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12_chrX_71113596_71147450	71122126	GTTGGGTC GTTGGGTC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0044 a0001c0004t0001g0044	1	273	0.0037	-7	c.110 others(22): Show c.1102-71_1102-65delGGGTCTT	MED12	ENSG00000184634.17	transcript	ENST00000374080.8	protein_coding	7/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
MED13L_chr12_115953576_116282693	116031735	GAAAAGAA GAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02071.hp1 NA18974.hp2 HG00621.hp1 HG02071.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0064 a0001c0001t0001g0130 a0001c0001t0003g0020 a0001c0001t0001g0064 a0001c0001t0001g0130 a0001c0001t0003g0020	3	254	0.0118	-7	c.480 others(24): Show c.480-9141_480-9135delTTCTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116031745	GAAAAGAA GAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02523.hp2 HG02559.hp2 others(1): Show HG01255.hp1 HG02523.hp2 HG02559.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0121 a0001c0001t0001g0229 a0001c0001t0001g0243 others(1): Show a0001c0001t0001g0121 a0001c0001t0001g0229 a0001c0001t0001g0243 a0001c0001t0013g0135	4	254	0.0158	-7	c.480 others(24): Show c.480-9151_480-9145delTTCTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116038744	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp2 HG03195.hp2 others(2): Show HG02559.hp2 HG02922.hp2 HG03195.hp2 HG03209.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0121 a0001c0005t0001g0096 a0001c0005t0001g0097 others(2): Show a0001c0001t0001g0121 a0001c0005t0001g0096 a0001c0005t0001g0097 a0001c0005t0001g0098 a0001c0005t0001g0157	5	254	0.0197	-7	c.480 others(26): Show c.480-16150_480-16144delTTTTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116102697	CTTTTTCT CTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG02109.hp2 others(17): Show HG00544.hp2 HG00597.hp2 HG02109.hp2 HG02257.hp2 HG02451.hp2 HG03471.hp2 HG03710.hp1 NA18945.hp1 NA18946.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18965.hp1 NA18990.hp2 NA18992.hp1 NA19005.hp1 NA19058.hp1 NA19074.hp2 NA19079.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0032 a0001c0001t0001g0082 a0001c0001t0001g0105 others(17): Show a0001c0001t0001g0032 a0001c0001t0001g0082 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0171 a0001c0001t0001g0190 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0013g0135 a0001c0001t0014g0106	20	254	0.0787	-7	c.396 others(24): Show c.396-5952_396-5946delAGAAAAA	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	3/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116165259	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00733.hp1 HG01123.hp1 others(14): Show HG00544.hp2 HG00733.hp1 HG01123.hp1 HG02109.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02895.hp2 HG03471.hp2 HG03710.hp1 NA18945.hp1 NA18946.hp1 NA18951.hp2 NA18990.hp2 NA18992.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 others(14): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0171 a0001c0001t0003g0003 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0013g0135 a0001c0001t0014g0106	17	254	0.0669	-7	c.311 others(26): Show c.311-53754_311-53748delAAAAAAA	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MED13_chr17_61937605_62070278	61963202	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02809.hp2 others(4): Show HG02257.hp2 HG02451.hp2 HG02809.hp2 HG02976.hp1 HG03209.hp2 HG03486.hp2 HG03579.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0003 a0002c0005t0001g0004 a0002c0005t0001g0005 others(4): Show a0002c0005t0001g0003 a0002c0005t0001g0004 a0002c0005t0001g0005 a0002c0005t0001g0006 a0002c0005t0001g0121 a0002c0005t0001g0122 a0002c0005t0001g0289	7	326	0.0215	-7	c.484 others(24): Show c.4845-238_4845-232delTTTTTTT	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	20/29			chr17	TogoVar
MED13_chr17_61937605_62070278	62015954	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01516.hp1 HG01517.hp2 others(6): Show HG01243.hp1 HG01516.hp1 HG01517.hp2 HG02148.hp2 HG02647.hp1 HG03139.hp1 NA18951.hp1 NA19054.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0088 a0001c0001t0001g0220 a0001c0001t0002g0154 others(6): Show a0001c0001t0001g0088 a0001c0001t0001g0220 a0001c0001t0002g0154 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0003t0001g0105 a0001c0003t0001g0296 a0001c0003t0001g0301 a0001c0003t0001g0302	9	326	0.0276	-7	c.128 others(26): Show c.1284-4728_1284-4722delAAAAAAA	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	8/29			chr17	TogoVar

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