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
MECOM_chr3_169078507_169668712	169507650	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG06807.hp2 HG03195.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0039 a0001c0001t0003g0040	2	160	0.0125	17	c.38- others(36): Show c.38-126143_38-126127dupAAAAAAAAAAAAAAAAA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169533591	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0063	1	160	0.0063	17	c.37+ others(36): Show c.37+129744_37+129745insGTAAAAAAAAAAAAAAA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MED12L_chr3_151080664_151441653	151151031	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG00741.hp2 others(34): Show HG00280.hp1 HG00621.hp2 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01517.hp1 HG01943.hp2 HG02056.hp2 HG02132.hp2 HG02145.hp2 HG02486.hp1 HG02683.hp1 HG02895.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03540.hp1 HG03831.hp1 HG04228.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18956.hp2 NA18969.hp2 NA18970.hp2 NA18975.hp1 NA18982.hp2 NA18994.hp1 NA19006.hp2 NA19084.hp1 NA19087.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0012 a0001c0039 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0051 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0026 a0001c0004t0002 a0001c0004t0003 a0001c0004t0055 a0001c0005t0001 a0001c0005t0002 a0001c0007t0007 a0001c0012t0010 a0001c0039t0018 a0002c0003t0004 a0002c0003t0005	a0001c0001t0001g0111 a0001c0001t0001g0209 a0001c0001t0002g0230 others(34): Show a0001c0001t0001g0111 a0001c0001t0001g0209 a0001c0001t0002g0230 a0001c0001t0003g0205 a0001c0001t0003g0218 a0001c0001t0003g0223 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0004g0217 a0001c0001t0008g0246 a0001c0001t0008g0247 a0001c0001t0008g0265 a0001c0001t0008g0274 a0001c0001t0051g0263 a0001c0002t0001g0131 a0001c0002t0002g0220 a0001c0002t0006g0181 a0001c0002t0026g0259 a0001c0004t0002g0143 a0001c0004t0002g0188 a0001c0004t0003g0195 a0001c0004t0055g0003 a0001c0005t0001g0044 a0001c0005t0002g0194 a0001c0007t0007g0033 a0001c0007t0007g0034 a0001c0012t0010g0201 a0001c0039t0018g0169 a0002c0003t0004g0043 a0002c0003t0004g0182 a0002c0003t0004g0199 a0002c0003t0004g0228 a0002c0003t0004g0234 a0002c0003t0004g0269 a0002c0003t0005g0227 a0002c0003t0005g0266 a0002c0003t0005g0267	37	280	0.1321	17	c.557 others(34): Show c.557-5123_557-5107dupTTTTTTTTTTTTTTTTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151178157	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0013 a0001c0015t0002g0013	1	280	0.0036	17	c.149 others(36): Show c.1495-7162_1495-7146dupAAAAAAAAAAAAAAAAA	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	11/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151270241	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0162 a0001c0012t0001g0162	1	280	0.0036	17	c.225 others(38): Show c.2250+76576_2250+76577insGTGTGTGTGTGTGTGTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151270242	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	280	0.0036	17	c.225 others(38): Show c.2250+76576_2250+76577insGTGTGTGTGTGTGTGTG	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44			chr3	TogoVar
MED12L_chr3_151080664_151441653	151299360	C C	CTTTTCTT others(10): Show CTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0107 a0001c0004t0022g0107	1	280	0.0036	17	c.225 others(38): Show c.2251-50696_2251-50680dupTTCTTTTCTTTTCTTTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED13L_chr12_115953576_116282693	116024773	C C	CGGGGGGG others(10): Show CGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	254	0.0039	17	c.480 others(34): Show c.480-2173_480-2172insCCCCCCCCCCCCCCCCC	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116031752	A A	AGAAGGAA others(10): Show AGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	254	0.0039	17	c.480 others(34): Show c.480-9152_480-9151insCCTTCCTTCCTTCCTTC	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116038744	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	254	0.0039	17	c.480 others(36): Show c.480-16160_480-16144dupTTTTTTTTTTTTTTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116096354	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01981.hp2 HG02922.hp1 others(2): Show HG00558.hp2 HG01981.hp2 HG02922.hp1 NA18992.hp2 NA19068.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0019 a0001c0001 a0006c0019	a0001c0001t0001 a0006c0019t0001 a0001c0001t0001 a0006c0019t0001	a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0001g0172 others(2): Show a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0001g0172 a0001c0001t0001g0234 a0006c0019t0001g0099	5	254	0.0197	17	c.479 others(32): Show c.479+298_479+314dupTTTTTTTTTTTTTTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116148051	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	254	0.0039	17	c.311 others(36): Show c.311-36556_311-36540dupTTTTTTTTTTTTTTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MED13_chr17_61937605_62070278	62008016	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03540.hp1 HG02280.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0245 a0001c0001t0001g0209 a0001c0001t0001g0245	2	326	0.0061	17	c.196 others(36): Show c.1967+2517_1967+2533dupTTTTTTTTTTTTTTTTT	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	9/29			chr17	TogoVar
MED13_chr17_61937605_62070278	62008317	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	326	0.0031	17	c.196 others(36): Show c.1967+2216_1967+2232dupTTTTTTTTTTTTTTTTT	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	9/29			chr17	TogoVar
MED15_chr22_20502610_20592619	20505559	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0282 a0008c0007t0001g0282	1	341	0.0029	17	c.-21 others(28): Show c.-2120_-2119insAAAAAAAAAAAAAAAAA	MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding		2050		chr22	TogoVar
MED16_chr19_862963_898187	867041	C C	CACCCCCG others(10): Show CACCCCCGTGGCGGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG01070.hp1 others(15): Show HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01099.hp2 HG01258.hp2 HG02451.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 NA18995.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0015 a0001c0017 a0002c0003 others(9): Show a0001c0015 a0001c0017 a0002c0003 a0002c0007 a0002c0008 a0002c0012 a0002c0020 a0002c0022 a0002c0023 a0003c0021 a0007c0019 a0008c0018	a0001c0015t0001 a0001c0017t0001 a0002c0003t0001 others(9): Show a0001c0015t0001 a0001c0017t0001 a0002c0003t0001 a0002c0007t0001 a0002c0008t0001 a0002c0012t0005 a0002c0020t0001 a0002c0022t0001 a0002c0023t0001 a0003c0021t0001 a0007c0019t0001 a0008c0018t0006	a0001c0015t0001g0033 a0001c0017t0001g0003 a0002c0003t0001g0005 others(15): Show a0001c0015t0001g0033 a0001c0017t0001g0003 a0002c0003t0001g0005 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0010 a0002c0003t0001g0013 a0002c0003t0001g0036 a0002c0007t0001g0011 a0002c0007t0001g0015 a0002c0008t0001g0018 a0002c0012t0005g0025 a0002c0020t0001g0009 a0002c0022t0001g0012 a0002c0023t0001g0006 a0003c0021t0001g0004 a0007c0019t0001g0017 a0008c0018t0006g0014	18	56	0.3214	17	c.10 others(28): Show c.1059_*1060insCCAGCCGCCACGGGGGT	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		921		chr19	TogoVar
MED16_chr19_862963_898187	876933	C C	CCCCCACC others(10): Show CCCCCACCTGCCACGGGG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp2 HG02735.hp1 others(6): Show HG01978.hp1 HG01978.hp2 HG02735.hp1 HG03239.hp1 HG03540.hp1 HG03688.hp1 HG03688.hp2 NA19004.hp1 NA19007.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0002 a0002c0012 a0005c0011 others(1): Show a0001c0002 a0002c0012 a0005c0011 a0006c0009	a0001c0002t0001 a0001c0002t0002 a0002c0012t0005 others(2): Show a0001c0002t0001 a0001c0002t0002 a0002c0012t0005 a0005c0011t0001 a0006c0009t0007	a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0026 others(6): Show a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0002g0021 a0002c0012t0005g0025 a0005c0011t0001g0048 a0006c0009t0007g0027	9	56	0.1607	17	c.156 others(32): Show c.1560+24_1560+40dupCCCCGTGGCAGGTGGGG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	9/15			chr19	TogoVar
MED17_chr11_93779282_93819963	93793114	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00558.hp1 others(56): Show HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00673.hp2 HG01074.hp1 HG01123.hp2 HG01168.hp1 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02698.hp1 HG02735.hp2 HG02922.hp2 HG03041.hp2 HG03704.hp1 HG03834.hp1 HG04184.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp2 NA18979.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19009.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp2 NA19062.hp2 NA19068.hp1 NA19079.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0003c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0032 others(7): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0032 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0004t0003 a0002c0004t0015 a0002c0004t0029 a0003c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0021 others(40): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0007g0099 a0001c0001t0032g0134 a0002c0002t0001g0012 a0002c0002t0001g0171 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0004g0240 a0002c0002t0005g0181 a0002c0002t0005g0198 a0002c0004t0003g0027 a0002c0004t0003g0028 a0002c0004t0003g0176 a0002c0004t0003g0177 a0002c0004t0003g0241 a0002c0004t0003g0244 a0002c0004t0015g0028 a0002c0004t0029g0178 a0003c0007t0001g0066 a0003c0007t0001g0067	59	320	0.1844	17	c.638 others(32): Show c.638-609_638-593dupTTTTTTTTTTTTTTTTT	MED17	ENSG00000042429.12	transcript	ENST00000251871.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
MED19_chr11_57698710_57717215	57702435	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG03098.hp2 HG02572.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0049 a0001c0001t0001g0006 a0001c0001t0001g0049	2	380	0.0053	17	c.16 others(28): Show c.1602_*1603insATATATATATATATATA	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1274		chr11	TogoVar
MED19_chr11_57698710_57717215	57702437	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	380	0.0026	17	c.16 others(28): Show c.1600_*1601insATATATATATATATTTT	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1272		chr11	TogoVar
MED23_chr6_131581732_131633242	131615503	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	320	0.0031	17	c.876 others(32): Show c.876+387_876+403dupTTTTTTTTTTTTTTTTT	MED23	ENSG00000112282.18	transcript	ENST00000368068.8	protein_coding	10/28			chr6	TogoVar
MED24_chr17_40014104_40059408	40043890	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01070.hp1 HG02027.hp1 others(24): Show HG00639.hp1 HG01070.hp1 HG02027.hp1 HG02083.hp2 HG02280.hp2 HG02630.hp2 HG02683.hp2 HG03669.hp2 HG03834.hp1 NA18941.hp1 NA18948.hp1 NA18950.hp1 NA18953.hp2 NA18955.hp2 NA18962.hp1 NA18975.hp2 NA18981.hp2 NA18984.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp2 NA18998.hp2 NA19001.hp1 NA19010.hp1 NA19030.hp2 NA19056.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0013 a0001c0001t0002 a0001c0009t0013	a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0060 others(15): Show a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0009t0013g0072	27	398	0.0678	17	c.214 others(34): Show c.214-7737_214-7736insTTTTTTTTTTTTTTTTT	MED24	ENSG00000008838.21	transcript	ENST00000394128.7	protein_coding	3/25			chr17	TogoVar
MED24_chr17_40014104_40059408	40043892	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG02040.hp1 others(1): Show HG00423.hp2 HG00673.hp1 HG02040.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	4	398	0.0101	17	c.214 others(34): Show c.214-7739_214-7738insGTTTTTTTTTTTTTTTT	MED24	ENSG00000008838.21	transcript	ENST00000394128.7	protein_coding	3/25			chr17	TogoVar
MED24_chr17_40014104_40059408	40043902	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	398	0.0025	17	c.214 others(34): Show c.214-7749_214-7748insGTTTTTTTTTTTTTTTT	MED24	ENSG00000008838.21	transcript	ENST00000394128.7	protein_coding	3/25			chr17	TogoVar
MED25_chr19_49813289_49841979	49815352	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG03942.hp2 HG04115.hp1 HG02738.hp1 HG03942.hp2 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0152 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0152	3	406	0.0074	17	c.-29 others(28): Show c.-2990_-2989insAAAAAAAAAAAAAAAAA	MED25	ENSG00000104973.19	transcript	ENST00000312865.10	protein_coding		2936		chr19	TogoVar
MED27_chr9_131855112_132084867	131966383	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	274	0.0037	17	c.480 others(36): Show c.480-26926_480-26910dupTTTTTTTTTTTTTTTTT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MED28_chr4_17609641_17639105	17613882	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0003 a0001c0001t0009g0003	1	328	0.0031	17	c.-77 others(26): Show c.-773_-772insAAAAAAAAAAAAAAAAA	MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding		758		chr4	TogoVar
MED29_chr19_39386378_39405641	39393081	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0173 a0001c0001t0036g0173	1	388	0.0026	17	c.276 others(32): Show c.276-456_276-440dupTTTTTTTTTTTTTTTTT	MED29	ENSG00000063322.15	transcript	ENST00000315588.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
MED30_chr8_117515713_117545262	117540699	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 NA21309.hp2 HG02451.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	2	348	0.0058	17	c.72 others(26): Show c.721_*722insTTTTTTTTTTTTTTTTT	MED30	ENSG00000164758.7	transcript	ENST00000297347.7	protein_coding		438		chr8	TogoVar
MED31_chr17_6638311_6656605	6651120	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	428	0.0023	17	c.28+ others(30): Show c.28+364_28+380dupTTTTTTTTTTTTTTTTT	MED31	ENSG00000108590.11	transcript	ENST00000225728.8	protein_coding	1/3			chr17	TogoVar
MED7_chr5_157132424_157147865	157144445	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	386	0.0026	17	c.-16 others(28): Show c.-1644_-1643insAAAAAAAAAAAAAAAAA	MED7	ENSG00000155868.8	transcript	ENST00000286317.6	protein_coding		1581		chr5	TogoVar
MEF2B_chr19_19140567_19175263	19174385	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02451.hp1 HG02809.hp2 others(3): Show HG01123.hp1 HG02451.hp1 HG02809.hp2 HG03130.hp1 HG03486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0134 a0001c0001t0001g0136 others(3): Show a0001c0001t0001g0086 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0171 a0001c0001t0001g0322	6	404	0.0149	17	c.-42 others(28): Show c.-4227_-4211dupAAAAAAAAAAAAAAAAA	MEF2B	ENSG00000213999.17	transcript	ENST00000424583.7	protein_coding		4123		chr19	TogoVar
MEGF11_chr15_65890299_66258750	66082672	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0127 a0002c0002t0012g0127	1	176	0.0057	17	c.394 others(36): Show c.394+11713_394+11729dupTTTTTTTTTTTTTTTTT	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	5/25			chr15	TogoVar
MEGF11_chr15_65890299_66258750	66218979	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03540.hp2 HG03704.hp2 others(1): Show HG03492.hp1 HG03540.hp2 HG03704.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 a0001c0001t0001 a0001c0001t0009 a0002c0002t0001	a0001c0001t0001g0101 a0001c0001t0009g0008 a0002c0002t0001g0055 others(1): Show a0001c0001t0001g0101 a0001c0001t0009g0008 a0002c0002t0001g0055 a0002c0002t0001g0123	4	176	0.0227	17	c.-9+ others(34): Show c.-9+34609_-9+34625dupTTTTTTTTTTTTTTTTT	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	1/25			chr15	TogoVar
MEGF6_chr1_3482951_3616508	3550651	G G	GTGCCGGA others(10): Show GTGCCGGATCTGGCCCCA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	292	0.0034	17	c.482 others(36): Show c.482-26422_482-26406dupTGGGGCCAGATCCGGCA	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
MEI1_chr22_41694503_41804454	41784925	T T	TTTTATTT others(10): Show TTTTATTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0116 a0001c0004t0003g0116	1	260	0.0039	17	c.334 others(34): Show c.3345+149_3345+150insTATTTATTTATTTATTT	MEI1	ENSG00000167077.13	transcript	ENST00000401548.8	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
MEI4_chr6_77648039_77932045	77680115	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00733.hp1 HG01175.hp1 others(9): Show HG00423.hp1 HG00733.hp1 HG01175.hp1 HG02056.hp1 HG02071.hp1 NA18747.hp1 NA19007.hp1 NA19043.hp2 NA19058.hp2 NA19066.hp1 NA19081.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0001t0002 a0001c0001t0010 a0001c0001t0011	a0001c0001t0002g0059 a0001c0001t0002g0064 a0001c0001t0002g0069 others(9): Show a0001c0001t0002g0059 a0001c0001t0002g0064 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0201 a0001c0001t0010g0188 a0001c0001t0011g0028	12	360	0.0333	17	c.-14 others(36): Show c.-14-10529_-14-10528insAAAAAAAAAAAAAAAAA	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEI4_chr6_77648039_77932045	77699884	C C	CAGAACAG others(10): Show CAGAACAGCGGTGGCTGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0028 a0001c0001t0011g0028	1	360	0.0028	17	c.232 others(34): Show c.232+8992_232+9008dupTGGCTGTAGAACAGCGG	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEI4_chr6_77648039_77932045	77841333	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	360	0.0028	17	c.900 others(36): Show c.900+12272_900+12273insATATATATATATATTTT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEI4_chr6_77648039_77932045	77841333	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	360	0.0028	17	c.900 others(36): Show c.900+12272_900+12273insATATATATATTTTTTTT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEI4_chr6_77648039_77932045	77841333	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 NA20905.hp2 HG01069.hp2 HG01071.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0005 a0001c0001t0006 a0002c0002t0005	a0001c0001t0006g0015 a0001c0001t0006g0016 a0002c0002t0005g0066 a0001c0001t0006g0015 a0001c0001t0006g0016 a0002c0002t0005g0066	3	360	0.0083	17	c.900 others(36): Show c.900+12272_900+12273insATATATATTTTTTTTTT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEI4_chr6_77648039_77932045	77841333	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0222 a0001c0001t0006g0222	1	360	0.0028	17	c.900 others(36): Show c.900+12272_900+12273insATATATTTTTTTTTTTT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEI4_chr6_77648039_77932045	77841333	A A	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0345 a0001c0001t0007g0356 a0001c0001t0007g0345 a0001c0001t0007g0356	2	360	0.0056	17	c.900 others(36): Show c.900+12272_900+12273insATATTTTTTTTTTTTTT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEIG1_chr10_14954388_14977857	14961638	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp2 HG00741.hp1 others(18): Show HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01175.hp2 HG02273.hp2 HG02723.hp2 HG02818.hp1 HG03098.hp1 HG03540.hp2 HG03688.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 NA18952.hp2 NA18961.hp2 NA18986.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA19075.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0014 a0001c0001t0001g0051 a0001c0001t0001g0052 others(12): Show a0001c0001t0001g0014 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0287 a0002c0002t0002g0267	21	442	0.0475	17	c.-30 others(34): Show c.-30+2086_-30+2102dupTTTTTTTTTTTTTTTTT	MEIG1	ENSG00000197889.10	transcript	ENST00000407572.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
MEIKIN_chr5_131801990_131950663	131819765	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	346	0.0029	17	c.976 others(32): Show c.976-919_976-903dupAAAAAAAAAAAAAAAAA	MEIKIN	ENSG00000239642.6	transcript	ENST00000442687.6	protein_coding	11/12			chr5	TogoVar
MEIKIN_chr5_131801990_131950663	131845272	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19043.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0194 a0001c0001t0001g0165 a0001c0001t0001g0194	2	346	0.0058	17	c.975 others(34): Show c.975+5975_975+5991dupTTTTTTTTTTTTTTTTT	MEIKIN	ENSG00000239642.6	transcript	ENST00000442687.6	protein_coding	11/12			chr5	TogoVar
MEIOB_chr16_1828986_1877164	1830944	A A	ACACACAC others(10): Show ACACACACCCCACCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG03579.hp2 NA18612.hp2 others(1): Show HG02027.hp1 HG03579.hp2 NA18612.hp2 NA19084.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0159 a0003c0003t0001g0184 others(1): Show a0003c0003t0001g0001 a0003c0003t0001g0159 a0003c0003t0001g0184 a0003c0003t0001g0193	4	380	0.0105	17	c.33 others(28): Show c.3311_*3312insGGTGGGTGGGGTGTGTG	MEIOB	ENSG00000162039.18	transcript	ENST00000325962.9	protein_coding		3041		chr16	TogoVar
MEIOB_chr16_1828986_1877164	1842623	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0366 a0001c0001t0009g0366	1	380	0.0026	17	c.881 others(32): Show c.881-651_881-650insTTTTTTTTTTTTTTTTT	MEIOB	ENSG00000162039.18	transcript	ENST00000325962.9	protein_coding	10/13			chr16	TogoVar
MEIOC_chr17_44651468_44680801	44670538	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0165 a0001c0010t0001g0165	1	352	0.0028	17	c.245 others(36): Show c.2457+1025_2457+1041dupTTTTTTTTTTTTTTTTT	MEIOC	ENSG00000180336.18	transcript	ENST00000409122.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
MEIS1_chr2_66430125_66578869	66440092	C C	CACACACA others(10): Show CACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0115 a0001c0001t0010g0115	1	246	0.0041	17	c.381 others(32): Show c.381+108_381+109insACACACACACACACACA	MEIS1	ENSG00000143995.20	transcript	ENST00000272369.14	protein_coding	3/12			chr2	TogoVar

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