Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MCTP2_chr15_94226561_94488952	94242954	TATACACG others(19): Show TATACACGTGTATATGTGTATCTACAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG02145.hp2 others(14): Show HG00438.hp1 HG00558.hp1 HG02145.hp2 HG02155.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03540.hp2 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18973.hp2 NA18982.hp2 NA19079.hp2 NA19090.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004 a0002c0007 a0004c0008	a0001c0001t0003 a0001c0001t0017 a0001c0001t0053 others(10): Show a0001c0001t0003 a0001c0001t0017 a0001c0001t0053 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0006t0009 a0002c0004t0010 a0002c0007t0015 a0002c0007t0016 a0004c0008t0022	a0001c0001t0003g0166 a0001c0001t0017g0051 a0001c0001t0053g0149 others(14): Show a0001c0001t0003g0166 a0001c0001t0017g0051 a0001c0001t0053g0149 a0001c0002t0001g0003 a0001c0002t0001g0167 a0001c0002t0001g0230 a0001c0002t0001g0275 a0001c0002t0002g0142 a0001c0002t0003g0143 a0001c0002t0003g0150 a0001c0002t0004g0144 a0001c0002t0006g0148 a0001c0006t0009g0052 a0002c0004t0010g0056 a0002c0007t0015g0141 a0002c0007t0016g0059 a0004c0008t0022g0168	17	276	0.0616	-26	c.-66 others(45): Show c.-66+11398_-66+11423delCACGTGTATATGTGTATCTACACATA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94243062	CACGTGTA others(19): Show CACGTGTATATGTGTATCTACACATAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03471.hp2 NA19001.hp1 others(1): Show HG03098.hp2 HG03471.hp2 NA19001.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0006 a0001c0002t0013 a0001c0002t0055 others(1): Show a0001c0001t0006 a0001c0002t0013 a0001c0002t0055 a0002c0003t0007	a0001c0001t0006g0140 a0001c0002t0013g0061 a0001c0002t0055g0079 others(1): Show a0001c0001t0006g0140 a0001c0002t0013g0061 a0001c0002t0055g0079 a0002c0003t0007g0146	4	276	0.0145	-26	c.-66 others(45): Show c.-66+11419_-66+11444delACATATACGTGTATATGTGTATCTAC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94390064	ATATATAT others(19): Show ATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0011 a0006c0011t0011	a0006c0011t0011g0274 a0006c0011t0011g0274	1	276	0.0036	-26	c.178 others(45): Show c.1788+4563_1788+4588delATGTATATATATATATATATATATAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCU_chr10_72687143_72892694	72804017	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01123.hp1 HG02451.hp2 others(5): Show HG01069.hp1 HG01123.hp1 HG02451.hp2 HG03486.hp2 HG03540.hp1 HG04204.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0002t0001g0003 others(5): Show a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010	8	210	0.0381	-26	c.151 others(45): Show c.151-30310_151-30285delTATATATATATATATATATATATATA	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MDGA1_chr6_37625679_37702883	37664842	GACACACA others(19): Show GACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02109.hp1 HG02145.hp1 others(7): Show HG00280.hp1 HG02109.hp1 HG02145.hp1 HG02886.hp1 HG02886.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0006 a0001c0003t0121 a0001c0005t0004 others(4): Show a0001c0003t0006 a0001c0003t0121 a0001c0005t0004 a0001c0005t0012 a0001c0005t0016 a0001c0005t0048 a0001c0005t0114	a0001c0003t0006g0131 a0001c0003t0121g0391 a0001c0005t0004g0312 others(7): Show a0001c0003t0006g0131 a0001c0003t0121g0391 a0001c0005t0004g0312 a0001c0005t0012g0069 a0001c0005t0016g0156 a0001c0005t0016g0157 a0001c0005t0016g0246 a0001c0005t0016g0309 a0001c0005t0048g0020 a0001c0005t0114g0372	10	402	0.0249	-26	c.68- others(39): Show c.68-762_68-737delGTGTGTGTGTGTGTGTGTGTGTGTGT	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	1/16			chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698156	TTCTCTTT others(19): Show TTCTCTTTCTCTTTCTCTTTCTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01516.hp2 others(8): Show HG01069.hp2 HG01071.hp1 HG01516.hp2 HG03209.hp2 HG03704.hp2 HG04199.hp2 NA18986.hp2 NA19002.hp1 NA19064.hp2 NA19088.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0031 a0001c0001t0036 a0001c0002t0002 a0001c0002t0003 a0001c0003t0026 a0001c0006t0094 a0002c0004t0002	a0001c0001t0001g0272 a0001c0001t0004g0295 a0001c0001t0007g0016 others(8): Show a0001c0001t0001g0272 a0001c0001t0004g0295 a0001c0001t0007g0016 a0001c0001t0031g0021 a0001c0001t0036g0072 a0001c0002t0002g0234 a0001c0002t0003g0325 a0001c0003t0026g0322 a0001c0003t0026g0323 a0001c0006t0094g0083 a0002c0004t0002g0321	11	402	0.0274	-26	c.-13 others(37): Show c.-1371_-1346delGAAAGAGAAAGAGAAAGAGAAAGAGA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		274		chr6	TogoVar
MDGA2_chr14_46835092_47680605	46929599	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01261.hp1 HG01167.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0083 a0001c0001t0002g0088	2	120	0.0167	-26	c.209 others(45): Show c.2090-9465_2090-9440delTATATATATATATATATATATATACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	9/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47053601	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA19043.hp1 HG01261.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0068 a0001c0001t0002g0069 a0001c0001t0001g0068 a0001c0001t0002g0069	2	120	0.0167	-26	c.152 others(45): Show c.1525+7622_1525+7647delTATATATATATATATATATATATATA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	7/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47053630	TATATATA others(19): Show TATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp1 HG01496.hp2 others(5): Show HG01074.hp1 HG01175.hp1 HG01496.hp2 HG02615.hp2 HG03225.hp2 HG04228.hp1 NA18906.hp2 NA18966.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0003 others(1): Show a0001c0001 a0002c0002 a0004c0003 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0001t0022 a0002c0002t0004 a0002c0002t0009 a0004c0003t0003 a0006c0009t0004	a0001c0001t0001g0045 a0001c0001t0002g0040 a0001c0001t0021g0030 others(5): Show a0001c0001t0001g0045 a0001c0001t0002g0040 a0001c0001t0021g0030 a0001c0001t0022g0031 a0002c0002t0004g0008 a0002c0002t0009g0113 a0004c0003t0003g0034 a0006c0009t0004g0006	8	120	0.0667	-26	c.152 others(45): Show c.1525+7593_1525+7618delGTATATATATATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	7/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47155885	CTTCTTTT others(19): Show CTTCTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG02647.hp2 others(6): Show HG01081.hp2 HG02055.hp2 HG02647.hp2 HG02895.hp2 HG02965.hp1 HG02976.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0005t0007 a0002c0002t0011 a0002c0002t0013	a0001c0001t0003g0070 a0001c0001t0004g0001 a0001c0001t0007g0021 others(6): Show a0001c0001t0003g0070 a0001c0001t0004g0001 a0001c0001t0007g0021 a0001c0001t0010g0027 a0001c0001t0010g0028 a0001c0001t0012g0019 a0001c0005t0007g0024 a0002c0002t0011g0014 a0002c0002t0013g0084	9	120	0.0750	-26	c.596 others(45): Show c.596-11637_596-11612delAAAAAAAAAAAAAAAAAAAAAAAGAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	3/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47323149	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG00741.hp1 others(31): Show HG00323.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02559.hp2 HG02717.hp2 HG02738.hp2 HG02818.hp1 HG02965.hp2 HG03017.hp1 HG03486.hp1 HG03516.hp2 HG03704.hp1 HG04115.hp1 HG04199.hp2 NA18906.hp1 NA18994.hp2 NA19043.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0010 others(2): Show a0001c0001 a0002c0002 a0002c0010 a0003c0004 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0002c0002t0001 a0002c0002t0009 a0002c0010t0005 a0003c0004t0001 a0003c0004t0004 a0003c0004t0024 a0004c0003t0002	a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0072 others(31): Show a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0002g0042 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0080 a0001c0001t0002g0093 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0006g0041 a0001c0001t0006g0048 a0001c0001t0006g0082 a0001c0001t0006g0099 a0001c0001t0007g0005 a0001c0001t0008g0010 a0001c0001t0008g0012 a0001c0001t0010g0026 a0001c0001t0014g0095 a0001c0001t0014g0096 a0001c0001t0015g0115 a0001c0001t0018g0022 a0002c0002t0001g0081 a0002c0002t0009g0104 a0002c0010t0005g0119 a0003c0004t0001g0100 a0003c0004t0004g0003 a0003c0004t0024g0032 a0004c0003t0002g0036	34	120	0.2833	-26	c.281 others(45): Show c.281-21625_281-21600delATATATATATATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDH2_chr7_76043106_76072508	76046274	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01167.hp2 HG01168.hp1 others(28): Show HG00323.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG02074.hp2 HG02083.hp1 HG02602.hp1 HG02683.hp2 HG03492.hp1 HG03688.hp1 HG04199.hp2 NA18961.hp2 NA18965.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18994.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19066.hp2 NA19091.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0003 a0002c0002t0002 a0004c0007t0002 a0001c0001t0003 a0002c0002t0002 a0004c0007t0002	a0001c0001t0003g0014 a0002c0002t0002g0001 a0002c0002t0002g0003 others(17): Show a0001c0001t0003g0014 a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0013 a0002c0002t0002g0018 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0119 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0128 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0139 a0002c0002t0002g0141 a0002c0002t0002g0143 a0002c0002t0002g0144 a0004c0007t0002g0001	31	398	0.0779	-26	c.-18 others(37): Show c.-1886_-1861delTGTGTGTGTGTGTGTGTGTGTGTGTG	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1831		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046315	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG02135.hp2 NA18999.hp2 others(2): Show HG01169.hp2 HG02135.hp2 NA18999.hp2 NA19084.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0002c0002t0002 a0003c0003t0002 a0001c0001t0003 a0002c0002t0002 a0003c0003t0002	a0001c0001t0003g0014 a0002c0002t0002g0003 a0002c0002t0002g0120 others(1): Show a0001c0001t0003g0014 a0002c0002t0002g0003 a0002c0002t0002g0120 a0003c0003t0002g0003	5	398	0.0126	-26	c.-18 others(37): Show c.-1845_-1820delGTGTGTGTGTGTGTGTGTGTGTGTGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1790		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046317	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	398	0.0025	-26	c.-18 others(37): Show c.-1843_-1818delGTGTGTGTGTGTGTGTGTGTGTGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1788		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046319	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG00735.hp1 HG01069.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0113 a0002c0002t0002g0004 a0002c0002t0002g0113	2	398	0.0050	-26	c.-18 others(37): Show c.-1841_-1816delGTGTGTGTGTGTGTGTGTGTGCGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1786		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046321	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG02145.hp1 HG02647.hp1 HG01358.hp1 HG02145.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0038 a0001c0001t0001g0098 a0001c0001t0001g0103	3	398	0.0075	-26	c.-18 others(37): Show c.-1839_-1814delGTGTGTGTGTGTGTGTGTGCGCGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1784		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046323	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGCGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG02273.hp2 HG02572.hp2 others(22): Show HG00140.hp1 HG02273.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02970.hp1 HG03486.hp2 HG03492.hp2 HG03654.hp1 HG03942.hp2 HG04228.hp2 NA18747.hp2 NA18943.hp1 NA18950.hp1 NA18953.hp1 NA19054.hp1 NA19057.hp2 NA19082.hp1 NA19085.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0008 a0006c0011 a0001c0001 a0001c0008 a0006c0011	a0001c0001t0001 a0001c0001t0007 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0008t0001 a0006c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0052 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0007g0172 a0001c0008t0001g0200 a0006c0011t0001g0217	25	398	0.0628	-26	c.-18 others(37): Show c.-1837_-1812delGTGTGTGTGTGTGTGTGCGCGCGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1782		chr7	TogoVar
MDH2_chr7_76043106_76072508	76069407	GAGGAGGG others(19): Show GAGGAGGGAAAAGGAGGAGGAGGAGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0009	1	398	0.0025	-26	c.29 others(37): Show c.2998_*3023delAGGAGGGAAAAGGAGGAGGAGGAGAT	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1900		chr7	TogoVar
MDM4_chr1_204511406_204563120	204517484	ACTTCTGC others(19): Show ACTTCTGCCTCACGGGTTCAAGTGATT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02451.hp1 HG02559.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0027 a0003c0007t0027	a0003c0007t0027g0265 a0003c0007t0027g0266 a0003c0007t0027g0265 a0003c0007t0027g0266	2	372	0.0054	-26	c.-36 others(42): Show c.-36+987_-36+1012delCGGGTTCAAGTGATTCTTCTGCCTCA	MDM4	ENSG00000198625.14	transcript	ENST00000367182.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
MDM4_chr1_204511406_204563120	204530237	TTATTAAA others(19): Show TTATTAAACATTGTACTTCATTTGCCA	T T	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0049 a0001c0001t0019g0049	1	372	0.0027	-26	c.154 others(41): Show c.154-446_154-421delTATTAAACATTGTACTTCATTTGCCA	MDM4	ENSG00000198625.14	transcript	ENST00000367182.8	protein_coding	3/10			chr1	TogoVar
MDN1_chr6_89637498_89824794	89746609	AAAAAAGA others(19): Show AAAAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	290	0.0035	-26	c.390 others(43): Show c.3904+694_3904+719delCTTTCTTTCTTTCTTTCTTTCTTTTT	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	27/101			chr6	TogoVar
ME2_chr18_50874118_50959257	50959178	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG03098.hp1 NA18995.hp1 others(1): Show HG02630.hp2 HG03098.hp1 NA18995.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0036 a0001c0001t0159 a0001c0001t0179 others(1): Show a0001c0001t0036 a0001c0001t0159 a0001c0001t0179 a0002c0002t0023	a0001c0001t0036g0201 a0001c0001t0159g0221 a0001c0001t0179g0260 others(1): Show a0001c0001t0036g0201 a0001c0001t0159g0221 a0001c0001t0179g0260 a0002c0002t0023g0180	4	342	0.0117	-26	c.11 others(39): Show c.11995_*12020delTTTCTTTCTTTCTTTCTTTCTTTCTT	ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding		4922		chr18	TogoVar
ME3_chr11_86436108_86677616	86560724	GTATGTGT others(19): Show GTATGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	320	0.0031	-26	c.184 others(41): Show c.184-927_184-902delTACACACACACACACACACACACATA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
MECOM_chr3_169078507_169668712	169183757	TACATACA others(19): Show TACATACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0133 a0001c0009t0007g0133	1	160	0.0063	-26	c.376 others(45): Show c.376-39951_376-39926delGTGTGTGTGTGTGTGTGTGTGTATGT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169183761	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0065 a0002c0002t0004g0065	1	160	0.0063	-26	c.376 others(45): Show c.376-39955_376-39930delGTGTGTGTGTGTGTGTGTGTGTGTGT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169212633	AATGTATA others(19): Show AATGTATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01175.hp1 HG01243.hp2 others(9): Show HG01099.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01516.hp1 HG02451.hp1 HG02622.hp1 HG02886.hp2 HG02922.hp2 HG03579.hp2 NA18522.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0001c0012 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0020 a0001c0001t0023 a0001c0001t0036 a0001c0003t0009 a0001c0008t0009 a0001c0012t0007 a0002c0002t0013	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0003g0031 others(9): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0003g0031 a0001c0001t0007g0134 a0001c0001t0007g0137 a0001c0001t0020g0129 a0001c0001t0023g0002 a0001c0001t0036g0025 a0001c0003t0009g0140 a0001c0008t0009g0143 a0001c0012t0007g0136 a0002c0002t0013g0047	12	160	0.0750	-26	c.376 others(45): Show c.376-68827_376-68802delATATATATATATATATATATATACAT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169263077	CTATATAT others(19): Show CTATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00738.hp1 others(23): Show HG00544.hp1 HG00544.hp2 HG00738.hp1 HG01081.hp2 HG01175.hp2 HG01243.hp1 HG01496.hp1 HG01496.hp2 HG02109.hp1 HG02132.hp2 HG02486.hp2 HG02630.hp1 HG02717.hp1 HG03130.hp2 HG03225.hp1 HG03579.hp1 HG03831.hp1 NA18960.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA19002.hp1 NA19011.hp1 NA19066.hp1 NA19088.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0003t0005 a0001c0003t0044 a0001c0004t0001 a0001c0004t0006 a0001c0004t0009 a0001c0004t0052 a0001c0004t0054 a0001c0008t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0024 a0002c0002t0039 a0002c0002t0043	a0001c0001t0001g0052 a0001c0001t0002g0083 a0001c0001t0004g0062 others(23): Show a0001c0001t0001g0052 a0001c0001t0002g0083 a0001c0001t0004g0062 a0001c0001t0006g0118 a0001c0001t0006g0125 a0001c0001t0010g0079 a0001c0001t0012g0028 a0001c0001t0016g0066 a0001c0001t0028g0007 a0001c0001t0032g0019 a0001c0001t0033g0018 a0001c0001t0034g0020 a0001c0003t0005g0098 a0001c0003t0044g0138 a0001c0004t0001g0059 a0001c0004t0006g0120 a0001c0004t0009g0144 a0001c0004t0052g0158 a0001c0004t0054g0160 a0001c0008t0003g0036 a0002c0002t0001g0046 a0002c0002t0002g0086 a0002c0002t0004g0068 a0002c0002t0024g0003 a0002c0002t0039g0093 a0002c0002t0043g0126	26	160	0.1625	-26	c.375 others(47): Show c.375+118084_375+118109delTATATATATATATATATATATATA TA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169477095	GTGTGTGT others(19): Show GTGTGTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18968.hp1 NA18975.hp2 others(2): Show HG01099.hp1 NA18968.hp1 NA18975.hp2 NA19060.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0004 a0001c0001t0025 a0001c0001t0032 others(2): Show a0001c0001t0004 a0001c0001t0025 a0001c0001t0032 a0001c0003t0009 a0003c0005t0041	a0001c0001t0004g0067 a0001c0001t0025g0004 a0001c0001t0032g0019 others(2): Show a0001c0001t0004g0067 a0001c0001t0025g0004 a0001c0001t0032g0019 a0001c0003t0009g0140 a0003c0005t0041g0100	5	160	0.0313	-26	c.38- others(43): Show c.38-95597_38-95572delTATATATATATATATACACACACACA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169477099	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	160	0.0063	-26	c.38- others(43): Show c.38-95601_38-95576delTATATATATATATATATATACACACA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECP2_chrX_154016573_154102717	154019841	GGGGCCTC others(19): Show GGGGCCTCTCAGGGCCGCGGCGGGCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	230	0.0044	-26	c.10 others(39): Show c.10500_*10525delGCGCCCGCCGCGGCCCTGAGAGGCCC	MECP2	ENSG00000169057.25	transcript	ENST00000303391.11	protein_coding		1731		chrX	TogoVar
MED13L_chr12_115953576_116282693	116031730	GAAAAGAA others(19): Show GAAAAGAAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02717.hp2 HG03195.hp2 others(1): Show HG00597.hp2 HG02717.hp2 HG03195.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0001 a0001c0001t0003 a0001c0005t0001	a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0005t0001g0095 others(1): Show a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0005t0001g0095 a0001c0005t0001g0096	4	254	0.0158	-26	c.480 others(43): Show c.480-9155_480-9130delTCTTTTCTTTTCTTTTCTTTTCTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116120453	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCTCTCTCTCA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0075	1	254	0.0039	-26	c.311 others(43): Show c.311-8967_311-8942delTGAGAGAGAGAGAGAGAGAGAGAGAG	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116120471	TCTCTCTC others(19): Show TCTCTCTCACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0124 a0001c0002t0011g0124	1	254	0.0039	-26	c.311 others(43): Show c.311-8985_311-8960delTGTGTGTGTGTGTGTGTGTGAGAGAG	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MED13_chr17_61937605_62070278	62015930	ATATATAT others(19): Show ATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18970.hp1 NA19084.hp2 NA18950.hp2 NA18970.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269	3	326	0.0092	-26	c.128 others(45): Show c.1284-4723_1284-4698delAATATATATATATATATATATATATA	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	8/29			chr17	TogoVar
MED13_chr17_61937605_62070278	62015938	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0239 a0010c0011t0001g0239	1	326	0.0031	-26	c.128 others(45): Show c.1284-4731_1284-4706delAAAAAAAAAATATATATATATATATA	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	8/29			chr17	TogoVar
MED15_chr22_20502610_20592619	20543111	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	341	0.0029	-26	c.156 others(43): Show c.156+5923_156+5948delGTGTGTGTGTGTGTGTGTGTGTGTGT	MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr22	TogoVar
MED15_chr22_20502610_20592619	20585562	CCAGGCTT others(19): Show CCAGGCTTCACGTTTGGAAATCTGAGA	C C	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0011 a0013c0015t0011	a0013c0015t0011g0179 a0013c0015t0011g0179	1	341	0.0029	-26	c.213 others(43): Show c.2132-165_2132-140delCAGGCTTCACGTTTGGAAATCTGAGA	MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding	16/17			chr22	TogoVar
MED20_chr6_41900354_41926139	41922164	AACAACAC others(19): Show AACAACACAGGCACGTCTAACTTAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	444	0.0023	-26	c.-11 others(37): Show c.-1172_-1147delCCTTAAGTTAGACGTGCCTGTGTTGT	MED20	ENSG00000124641.16	transcript	ENST00000265350.9	protein_coding		1026		chr6	TogoVar
MED28_chr4_17609641_17639105	17632043	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG02922.hp1 others(2): Show HG01243.hp2 HG02615.hp2 HG02922.hp1 HG03486.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 others(2): Show a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091	a0001c0001t0087g0103 a0001c0001t0088g0105 a0001c0001t0089g0036 others(2): Show a0001c0001t0087g0103 a0001c0001t0088g0105 a0001c0001t0089g0036 a0001c0001t0090g0104 a0001c0001t0091g0036	5	328	0.0152	-26	c.82 others(37): Show c.8264_*8289delTTTTTTTTTTTTTTTTTTTTTTTTTT	MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding	4/4	8264	INFO_REALIGN_3_PRIME	chr4	TogoVar
MED8_chr1_43378917_43394800	43392083	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	-26	c.-23 others(37): Show c.-2345_-2320delTTTTTTTTTTTTTTTTTTTTTTTTTT	MED8	ENSG00000159479.17	transcript	ENST00000372457.9	protein_coding		2284		chr1	TogoVar
MEGF10_chr5_127285796_127466222	127391094	GCGCGCGC others(19): Show GCGCGCGCGCACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02148.hp1 NA19088.hp1 HG01993.hp1 HG02148.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0028 a0001c0002t0002 a0001c0002t0003 a0001c0002t0028	a0001c0002t0002g0063 a0001c0002t0003g0242 a0001c0002t0028g0074 a0001c0002t0002g0063 a0001c0002t0003g0242 a0001c0002t0028g0074	3	268	0.0112	-26	c.413 others(43): Show c.413-5436_413-5411delGCGCGCGCACACACACACACACACAC	MEGF10	ENSG00000145794.17	transcript	ENST00000503335.7	protein_coding	5/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
MEGF10_chr5_127285796_127466222	127391096	GCGCGCGC others(19): Show GCGCGCGCACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0259 a0001c0002t0003g0259	1	268	0.0037	-26	c.413 others(43): Show c.413-5434_413-5409delGCGCGCACACACACACACACACACAC	MEGF10	ENSG00000145794.17	transcript	ENST00000503335.7	protein_coding	5/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
MEGF11_chr15_65890299_66258750	66008407	GCGCGCAC others(19): Show GCGCGCACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0013 a0010c0014t0013	a0010c0014t0013g0029 a0010c0014t0013g0029	1	176	0.0057	-26	c.395 others(45): Show c.395-25945_395-25920delTGTGTGTGTGTGTGTGTGTGTGCGCG	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	5/25			chr15	TogoVar
MEGF11_chr15_65890299_66258750	66020991	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG00673.hp2 others(40): Show HG00597.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01934.hp1 HG02257.hp1 HG02486.hp1 HG02572.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03834.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18747.hp1 NA19043.hp2 NA19056.hp1 NA19066.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0008	a0001c0001 a0001c0022 a0002c0002 others(5): Show a0001c0001 a0001c0022 a0002c0002 a0002c0015 a0003c0003 a0005c0006 a0006c0007 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 a0001c0022t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0002t0015 a0002c0015t0014 a0003c0003t0003 a0003c0003t0016 a0005c0006t0003 a0006c0007t0007 a0008c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0092 a0001c0001t0001g0100 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0002g0153 a0001c0001t0002g0158 a0001c0001t0002g0171 a0001c0001t0004g0047 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0005g0023 a0001c0001t0009g0008 a0001c0001t0017g0172 a0001c0022t0010g0094 a0002c0002t0001g0025 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0062 a0002c0002t0001g0073 a0002c0002t0001g0079 a0002c0002t0001g0111 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0139 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0157 a0002c0002t0002g0164 a0002c0002t0011g0061 a0002c0002t0015g0169 a0002c0015t0014g0168 a0003c0003t0003g0071 a0003c0003t0003g0072 a0003c0003t0003g0105 a0003c0003t0003g0140 a0003c0003t0003g0143 a0003c0003t0016g0155 a0005c0006t0003g0007 a0006c0007t0007g0075 a0008c0009t0001g0003 a0008c0009t0001g0004	43	176	0.2443	-26	c.395 others(45): Show c.395-38529_395-38504delTTTTTTTTTTTTTTTTTTTTTTTTTT	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	5/25			chr15	TogoVar
MEGF11_chr15_65890299_66258750	66082456	AAAAAAAA others(19): Show AAAAAAAAAAAATCTATCTATCTATCT	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0106 a0002c0002t0001g0106	1	176	0.0057	-26	c.394 others(45): Show c.394+11920_394+11945delAGATAGATAGATAGATTTTTTTTTTT	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	5/25			chr15	TogoVar
MEGF11_chr15_65890299_66258750	66224654	TATATATA others(19): Show TATATATAAAGTATATATTTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0080 a0004c0004t0003g0080	1	176	0.0057	-26	c.-9+ others(43): Show c.-9+28925_-9+28950delTATATATAAATATATACTTTATATAT	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	1/25			chr15	TogoVar
MEGF6_chr1_3482951_3616508	3487138	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0077 a0077	a0077c0076 a0077c0076	a0077c0076t0013 a0077c0076t0013	a0077c0076t0013g0250 a0077c0076t0013g0250	1	292	0.0034	-26	c.33 others(37): Show c.3364_*3389delATATATATATATATATATATATATAT	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding		812		chr1	TogoVar
MEGF6_chr1_3482951_3616508	3538696	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18612.hp2 NA19003.hp2 others(3): Show HG02165.hp1 NA18612.hp2 NA19003.hp2 NA19005.hp2 NA19057.hp1 NA19070.hp1	a0007 a0012 a0034 a0007 a0012 a0034	a0007c0008 a0012c0010 a0034c0033 a0007c0008 a0012c0010 a0034c0033	a0007c0008t0001 a0012c0010t0001 a0034c0033t0001 a0007c0008t0001 a0012c0010t0001 a0034c0033t0001	a0007c0008t0001g0063 a0007c0008t0001g0226 a0012c0010t0001g0163 others(3): Show a0007c0008t0001g0063 a0007c0008t0001g0226 a0012c0010t0001g0163 a0012c0010t0001g0164 a0012c0010t0001g0225 a0034c0033t0001g0052	6	292	0.0206	-26	c.482 others(45): Show c.482-14476_482-14451delCACACACACACACACACACACACACA	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
MEIKIN_chr5_131801990_131950663	131885341	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02145.hp1 NA18948.hp2 others(3): Show HG01978.hp2 HG02145.hp1 NA18948.hp2 NA18953.hp1 NA18977.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0060 a0001c0001t0001g0122 a0001c0001t0002g0187 others(3): Show a0001c0001t0001g0060 a0001c0001t0001g0122 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0002t0001g0249 a0001c0002t0001g0283	6	346	0.0173	-26	c.704 others(43): Show c.704-6319_704-6294delCTCTCTCTCTCTCTCTCTCTCTCTCT	MEIKIN	ENSG00000239642.6	transcript	ENST00000442687.6	protein_coding	8/12			chr5	TogoVar
MEIOB_chr16_1828986_1877164	1874169	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAACAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0366 a0001c0001t0009g0366	1	380	0.0026	-26	c.-22 others(37): Show c.-2212_-2187delTTTGTTTTTTTTTTTTTTTTTTTTTT	MEIOB	ENSG00000162039.18	transcript	ENST00000325962.9	protein_coding		2006		chr16	TogoVar

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