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
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0318 a0001c0001t0032g0318	1	340	0.0029	25	c.41 others(36): Show c.4153_*4154insATATATATTTTTTTTTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02559.hp2 NA18975.hp2 HG02004.hp1 HG02559.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0099 a0001c0001t0149 a0001c0001t0068 a0001c0001t0099 a0001c0001t0149	a0001c0001t0068g0326 a0001c0001t0099g0313 a0001c0001t0149g0076 a0001c0001t0068g0326 a0001c0001t0099g0313 a0001c0001t0149g0076	3	340	0.0088	25	c.41 others(36): Show c.4153_*4154insATATATATATATATATTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0036 a0001c0001t0045g0036	1	340	0.0029	25	c.41 others(36): Show c.4153_*4154insATATATATATATATATATATTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0042 a0001c0001t0045g0042	1	340	0.0029	25	c.41 others(36): Show c.4153_*4154insATATATATATATATATATATATTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MC1R_chr16_89913862_89925972	89916992	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	1	396	0.0025	25	c.-22 others(36): Show c.-2267_-2266insTATATATATATATATATATATATAT	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		1869		chr16	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	428	0.0023	25	c.-25 others(36): Show c.-2544_-2543insAAATATATATATATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0000 a0005c0007t0001g0000	1	428	0.0023	25	c.-25 others(36): Show c.-2544_-2543insAAAAAAAAAAATATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374893	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 NA18522.hp1 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	428	0.0047	25	c.-25 others(36): Show c.-2545_-2544insTATATATATATATATATATATATAT	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2119		chr18	TogoVar
MCC_chr5_113017106_113493453	113046685	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA19043.hp1 HG01167.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0001 a0001c0008 a0002c0001	a0001c0008t0004 a0002c0001t0002 a0001c0008t0004 a0002c0001t0002	a0001c0008t0004g0066 a0002c0001t0002g0150 a0001c0008t0004g0066 a0002c0001t0002g0150	2	160	0.0125	25	c.265 others(44): Show c.2655+2383_2655+2407dupTTTTTTTTTTTTTTTTTTTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	16/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113327561	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0031 a0001c0008t0031	a0001c0008t0031g0034 a0001c0008t0031g0034	1	160	0.0063	25	c.627 others(44): Show c.627+12957_627+12958insATATATATATATATATATATATTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCEE_chr2_71104687_71135229	71125211	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 homoSapiens_chm13v2.hp1 HG01928.hp2 homoSapiens_chm13v2.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0008 a0003c0003 a0007c0008	a0003c0003t0001 a0007c0008t0001 a0003c0003t0001 a0007c0008t0001	a0003c0003t0001g0217 a0007c0008t0001g0216 a0003c0003t0001g0217 a0007c0008t0001g0216	2	418	0.0048	25	c.41- others(38): Show c.41-669_41-668insAAAAAAATATATATATATATATATA	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding	1/2			chr2	TogoVar
MCEE_chr2_71104687_71135229	71125211	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02148.hp2 HG01099.hp1 HG02148.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0059 a0003c0003t0001g0059	2	418	0.0048	25	c.41- others(38): Show c.41-669_41-668insAAAAAAAAAAATATATATATATATA	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding	1/2			chr2	TogoVar
MCEMP1_chr19_7672090_7684829	7674859	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 NA19030.hp2 HG03195.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	2	448	0.0045	25	c.-22 others(36): Show c.-2262_-2261insTTTTTTTTTTTTTTTTTTTTTTTTT	MCEMP1	ENSG00000183019.8	transcript	ENST00000333598.8	protein_coding		2230		chr19	TogoVar
MCF2L2_chr3_183173041_183433619	183269230	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03579.hp1 HG03139.hp1 HG03579.hp1	a0007 a0008 a0007 a0008	a0007c0005 a0008c0008 a0007c0005 a0008c0008	a0007c0005t0001 a0008c0008t0009 a0007c0005t0001 a0008c0008t0009	a0007c0005t0001g0033 a0008c0008t0009g0175 a0007c0005t0001g0033 a0008c0008t0009g0175	2	176	0.0114	25	c.186 others(44): Show c.1862+7641_1862+7642insAAAAAAAAAAAAAAAAAAAAAAAAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	15/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183361077	G G	GAAGACAA others(18): Show GAAGACAAGACAAGACAAGACAAGAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0006 a0008c0008t0006	a0008c0008t0006g0016 a0008c0008t0006g0016	1	176	0.0057	25	c.275 others(44): Show c.275+18195_275+18219dupGTCTTGTCTTGTCTTGTCTTGTCTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183361077	G G	GAAGAGAA others(18): Show GAAGAGAAGACAAGACAAGACAAGAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0016 a0004c0004t0016	a0004c0004t0016g0133 a0004c0004t0016g0133	1	176	0.0057	25	c.275 others(44): Show c.275+18219_275+18220insGTCTTGTCTTGTCTTGTCTTCTCTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183361102	C C	CAAGACAA others(18): Show CAAGACAAGACAAGACAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0001 a0014c0012t0001	a0014c0012t0001g0164 a0014c0012t0001g0164	1	176	0.0057	25	c.275 others(44): Show c.275+18194_275+18195insTTCTTTTCTTGTCTTGTCTTGTCTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	112987311	C C	CATGCAGC others(18): Show CATGCAGCCCCCGGTGGGGGGCAGGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00544.hp1 others(94): Show HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG03017.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA19005.hp1 NA19066.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0002c0007 a0003c0009 a0004c0011 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0015 a0001c0002t0016 a0001c0002t0027 a0001c0003t0001 a0001c0003t0002 a0001c0003t0020 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0005t0001 a0001c0005t0029 a0001c0006t0002 a0001c0006t0009 a0001c0006t0030 a0001c0008t0003 a0001c0008t0004 a0001c0010t0021 a0001c0012t0031 a0001c0013t0001 a0001c0015t0001 a0001c0016t0004 a0002c0007t0001 a0003c0009t0011 a0004c0011t0002 a0005c0014t0024	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(94): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0002g0008 a0001c0001t0002g0048 a0001c0001t0003g0099 a0001c0001t0004g0070 a0001c0001t0005g0062 a0001c0001t0006g0010 a0001c0001t0006g0027 a0001c0001t0006g0056 a0001c0001t0007g0017 a0001c0001t0007g0026 a0001c0001t0008g0061 a0001c0001t0008g0066 a0001c0001t0012g0055 a0001c0001t0014g0001 a0001c0001t0017g0059 a0001c0001t0018g0077 a0001c0001t0023g0018 a0001c0002t0001g0036 a0001c0002t0001g0040 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0002g0003 a0001c0002t0002g0093 a0001c0002t0003g0014 a0001c0002t0003g0023 a0001c0002t0005g0060 a0001c0002t0015g0007 a0001c0002t0016g0054 a0001c0002t0027g0065 a0001c0003t0001g0053 a0001c0003t0001g0073 a0001c0003t0001g0086 a0001c0003t0001g0092 a0001c0003t0002g0042 a0001c0003t0002g0047 a0001c0003t0002g0064 a0001c0003t0002g0078 a0001c0003t0020g0089 a0001c0004t0001g0025 a0001c0004t0001g0102 a0001c0004t0001g0103 a0001c0004t0003g0009 a0001c0004t0004g0046 a0001c0004t0004g0084 a0001c0004t0004g0097 a0001c0004t0005g0011 a0001c0004t0005g0012 a0001c0004t0005g0095 a0001c0005t0001g0068 a0001c0005t0001g0079 a0001c0005t0001g0080 a0001c0005t0001g0081 a0001c0005t0001g0088 a0001c0005t0029g0091 a0001c0006t0002g0029 a0001c0006t0002g0043 a0001c0006t0009g0028 a0001c0006t0030g0096 a0001c0008t0003g0039 a0001c0008t0003g0044 a0001c0008t0004g0083 a0001c0010t0021g0015 a0001c0012t0031g0021 a0001c0013t0001g0067 a0001c0015t0001g0013 a0001c0016t0004g0085 a0002c0007t0001g0072 a0002c0007t0001g0074 a0002c0007t0001g0076 a0003c0009t0011g0101 a0004c0011t0002g0090 a0005c0014t0024g0100	97	116	0.8362	25	c.79+ others(42): Show c.79+17854_79+17855insTGCAGCCCCCGGTGGGGGGCAGGGA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2_chrX_139576770_139713167	139709558	A A	ATATACAT others(18): Show ATATACATAGCATATATAGCATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	249	0.0040	25	c.-14 others(36): Show c.-1498_-1497insGTATATGCTATATATGCTATGTATA	MCF2	ENSG00000101977.22	transcript	ENST00000519895.6	protein_coding		1392		chrX	TogoVar
MCPH1_chr8_6401627_6653508	6562552	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02922.hp1 NA18945.hp2 others(3): Show HG00438.hp2 HG02922.hp1 NA18945.hp2 NA18962.hp2 NA19005.hp1 NA19085.hp2	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0013	a0002c0002 a0004c0010 a0005c0004 others(1): Show a0002c0002 a0004c0010 a0005c0004 a0013c0017	a0002c0002t0002 a0002c0002t0021 a0004c0010t0001 others(3): Show a0002c0002t0002 a0002c0002t0021 a0004c0010t0001 a0004c0010t0053 a0005c0004t0011 a0013c0017t0040	a0002c0002t0002g0009 a0002c0002t0021g0201 a0004c0010t0001g0093 others(3): Show a0002c0002t0002g0009 a0002c0002t0021g0201 a0004c0010t0001g0093 a0004c0010t0053g0094 a0005c0004t0011g0100 a0013c0017t0040g0035	6	262	0.0229	25	c.221 others(46): Show c.2215-58883_2215-58882insTTTTTTTTTTTTTTTTTTTTTTTT T	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCTP2_chr15_94226561_94488952	94267869	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0090 a0001c0001t0057g0090	1	276	0.0036	25	c.-65 others(44): Show c.-65-30318_-65-30317insTTTTTTTTTTTTTTTTTTTTTTTTT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94464257	T T	TATATTAT others(18): Show TATATTATATATATATATATATATTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02257.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0127 a0001c0001t0001g0107 a0001c0001t0001g0127	2	276	0.0073	25	c.236 others(44): Show c.2360+6011_2360+6012insATATTATATATATATATATATATTA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	20/22			chr15	TogoVar
MDFIC_chr7_114917094_115024917	114919279	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG03098.hp1 HG00140.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0041 a0001c0001t0003 a0001c0001t0041	a0001c0001t0003g0236 a0001c0001t0041g0056 a0001c0001t0003g0236 a0001c0001t0041g0056	2	334	0.0060	25	c.-34 others(36): Show c.-3465_-3464insTTTTTTTTTTTTTTTTTTTTTTTTT	MDFIC	ENSG00000135272.13	transcript	ENST00000393486.6	protein_coding		2814		chr7	TogoVar
MDGA2_chr14_46835092_47680605	47079727	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0048	1	120	0.0083	25	c.119 others(46): Show c.1195+17126_1195+17127insAAAAAAAAAAAAAAAAAAAAAAAA A	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	6/16			chr14	TogoVar
MDH2_chr7_76043106_76072508	76045280	A A	AAATAGAT others(18): Show AAATAGATTCCTAAACAATCTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01934.hp2 HG01943.hp1 others(35): Show HG00609.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG02040.hp1 HG02129.hp2 HG02273.hp1 HG02300.hp2 HG02572.hp1 HG04184.hp2 NA18939.hp2 NA18952.hp1 NA18963.hp2 NA18965.hp2 NA18972.hp1 NA18977.hp1 NA18980.hp1 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19066.hp1 NA19076.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 others(25): Show a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0179	38	398	0.0955	25	c.-28 others(36): Show c.-2881_-2880insAATAGATTCCTAAACAATCTCCCTG	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		2825		chr7	TogoVar
MDM2_chr12_68803177_68850544	68847196	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	388	0.0026	25	c.73 others(36): Show c.7347_*7348insATATATATATATATATATATATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1653		chr12	TogoVar
ME1_chr6_83205402_83436051	83283227	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp1 HG02280.hp1 others(2): Show HG00639.hp2 HG01891.hp1 HG02280.hp1 HG03041.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0004 a0001c0001t0001 a0001c0001t0002 a0001c0003t0004	a0001c0001t0001g0059 a0001c0001t0002g0013 a0001c0003t0004g0012 others(2): Show a0001c0001t0001g0059 a0001c0001t0002g0013 a0001c0003t0004g0012 a0001c0003t0004g0017 a0001c0003t0004g0021	5	272	0.0184	25	c.705 others(44): Show c.705-29490_705-29489insTTTTTTTTTTTTTTTTTTTTTTTTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83376804	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03225.hp1 HG02717.hp2 HG03225.hp1	a0001 a0006 a0001 a0006	a0001c0003 a0006c0008 a0001c0003 a0006c0008	a0001c0003t0004 a0006c0008t0001 a0001c0003t0004 a0006c0008t0001	a0001c0003t0004g0018 a0006c0008t0001g0002 a0001c0003t0004g0018 a0006c0008t0001g0002	2	272	0.0074	25	c.362 others(44): Show c.362+21562_362+21563insTTTTTTTTTTTTTTTTTTTTTTTTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
MECOM_chr3_169078507_169668712	169439103	G G	GAATATTA others(18): Show GAATATTAATATTATTAATATTATTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG03195.hp2 HG02109.hp2 HG02257.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014	a0001c0001t0007g0135 a0001c0001t0013g0050 a0001c0001t0014g0148 a0001c0001t0007g0135 a0001c0001t0013g0050 a0001c0001t0014g0148	3	160	0.0188	25	c.38- others(42): Show c.38-57604_38-57580dupAAATAATATTAATAATATTAATATT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169441728	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG06807.hp1 HG01175.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0023 a0001c0003t0006 a0001c0001t0023 a0001c0003t0006	a0001c0001t0023g0002 a0001c0003t0006g0122 a0001c0001t0023g0002 a0001c0003t0006g0122	2	160	0.0125	25	c.38- others(42): Show c.38-60205_38-60204insAAAAAAAAAAAAAAAAAAAAAAAAA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169472464	G G	GAAGGAAA others(18): Show GAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03225.hp2 HG02965.hp1 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0053 a0002c0010t0014 a0002c0002t0053 a0002c0010t0014	a0002c0002t0053g0159 a0002c0010t0014g0149 a0002c0002t0053g0159 a0002c0010t0014g0149	2	160	0.0125	25	c.38- others(42): Show c.38-90965_38-90941dupTCCTTTCCTTTCCTTTCCTTTCCTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169472580	G G	GAGGAAAG others(18): Show GAGGAAAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03225.hp2 HG02965.hp1 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0053 a0002c0010t0014 a0002c0002t0053 a0002c0010t0014	a0002c0002t0053g0159 a0002c0010t0014g0149 a0002c0002t0053g0159 a0002c0010t0014g0149	2	160	0.0125	25	c.38- others(42): Show c.38-91081_38-91057dupTTCCTTTCCTTTCCTTTCCTTTCCT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169472580	G G	GAGGAGAG others(18): Show GAGGAGAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	160	0.0063	25	c.38- others(42): Show c.38-91057_38-91056insTTCCTTTCCTTTCCTTTCCTCTCCT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MED12L_chr3_151080664_151441653	151081299	C C	CTCCCTTC others(18): Show CTCCCTTCCCTTCCCTTCCCTTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0107 a0001c0004t0022g0107	1	280	0.0036	25	c.-47 others(36): Show c.-4767_-4766insTCCCTTCCCTTCCCTTCCCTTCCCT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding		4364		chr3	TogoVar
MED12L_chr3_151080664_151441653	151081375	T T	TCCCTCCC others(18): Show TCCCTCCCCTCCCCTCCCCTCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 NA20300.hp1 HG00280.hp1 HG00323.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0006 a0002c0003t0004 a0001c0002t0006 a0002c0003t0004	a0001c0002t0006g0181 a0001c0002t0006g0249 a0002c0003t0004g0248 a0001c0002t0006g0181 a0001c0002t0006g0249 a0002c0003t0004g0248	3	280	0.0107	25	c.-46 others(36): Show c.-4691_-4690insCCCTCCCCTCCCCTCCCCTCCCCTC	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding		4288		chr3	TogoVar
MED12L_chr3_151080664_151441653	151151031	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp1 HG02647.hp2 HG01109.hp1 HG02630.hp1 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0019 a0001c0004 a0001c0019	a0001c0004t0021 a0001c0019t0002 a0001c0004t0021 a0001c0019t0002	a0001c0004t0021g0136 a0001c0004t0021g0137 a0001c0019t0002g0025 a0001c0004t0021g0136 a0001c0004t0021g0137 a0001c0019t0002g0025	3	280	0.0107	25	c.557 others(42): Show c.557-5107_557-5106insTTTTTTTTTTTTTTTTTTTTTTTTT	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(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0016 a0001c0008t0001g0016	1	280	0.0036	25	c.149 others(44): Show c.1495-7170_1495-7146dupAAAAAAAAAAAAAAAAAAAAAAAAA	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	11/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151299356	C C	CTTTCTTT others(18): Show CTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp2 HG00741.hp1 others(19): Show HG00140.hp1 HG00733.hp2 HG00741.hp1 HG01071.hp2 HG01516.hp2 HG02071.hp1 HG02074.hp1 HG02132.hp1 HG02145.hp2 HG02486.hp2 HG03139.hp1 HG03239.hp2 HG03491.hp1 HG04115.hp1 NA18942.hp1 NA18956.hp1 NA19002.hp1 NA19010.hp1 NA19077.hp2 NA19082.hp2 NA19084.hp2 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0018 a0001c0020 a0002c0003 a0003c0006 a0005c0034 a0007c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0006 a0001c0004t0002 a0001c0007t0015 a0001c0008t0002 a0001c0008t0028 a0001c0008t0048 a0001c0018t0009 a0001c0020t0033 a0002c0003t0004 a0003c0006t0006 a0003c0006t0015 a0005c0034t0001 a0007c0028t0054	a0001c0001t0001g0111 a0001c0001t0002g0158 a0001c0001t0003g0057 others(19): Show a0001c0001t0001g0111 a0001c0001t0002g0158 a0001c0001t0003g0057 a0001c0001t0003g0140 a0001c0001t0003g0205 a0001c0001t0003g0218 a0001c0002t0006g0164 a0001c0004t0002g0138 a0001c0007t0015g0041 a0001c0008t0002g0010 a0001c0008t0028g0014 a0001c0008t0048g0009 a0001c0018t0009g0028 a0001c0020t0033g0023 a0002c0003t0004g0165 a0003c0006t0006g0153 a0003c0006t0006g0154 a0003c0006t0006g0155 a0003c0006t0006g0177 a0003c0006t0015g0101 a0005c0034t0001g0198 a0007c0028t0054g0006	22	280	0.0786	25	c.225 others(46): Show c.2251-50683_2251-50659dupTTTTCTTTTCTTTTCTTTTCTTTT C	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151299398	T T	TTCTTTTC others(18): Show TTCTTTTCTTTTCTTTTCTTTTCCCC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0163 a0001c0002t0001g0163	1	280	0.0036	25	c.225 others(46): Show c.2251-50659_2251-50658insTTTTCTTTTCTTTTCTTTTCCCCT C	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12_chrX_71113596_71147450	71132767	C C	CCTCTTCT others(18): Show CCTCTTCTCTTCTCTTCTCTTCTCTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	273	0.0037	25	c.441 others(40): Show c.4416-40_4416-16dupCTTCTCTTCTCTTCTCTTCTCTTCT	MED12	ENSG00000184634.17	transcript	ENST00000374080.8	protein_coding	31/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
MED13L_chr12_115953576_116282693	116096354	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	254	0.0039	25	c.479 others(40): Show c.479+290_479+314dupTTTTTTTTTTTTTTTTTTTTTTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED19_chr11_57698710_57717215	57702423	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	380	0.0026	25	c.16 others(36): Show c.1614_*1615insATATATATATATATATATATATATA	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1286		chr11	TogoVar
MED19_chr11_57698710_57717215	57702773	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	380	0.0026	25	c.12 others(36): Show c.1264_*1265insATATATATATATATATATATATATT	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		936		chr11	TogoVar
MED19_chr11_57698710_57717215	57716404	A A	AGTAGGGG others(18): Show AGTAGGGGCGGCCGGGCAGAGGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(54): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02129.hp1 HG02135.hp1 HG02293.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04204.hp2 NA18946.hp1 NA18975.hp1 NA18979.hp2 NA18992.hp2 NA19002.hp2 NA19010.hp1 NA19064.hp2 NA19078.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 others(18): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0102 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0004g0029	57	380	0.1500	25	c.-42 others(36): Show c.-4226_-4225insGGCGCCTCTGCCCGGCCGCCCCTAC	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		4190		chr11	TogoVar
MED24_chr17_40014104_40059408	40043890	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG04115.hp1 HG03486.hp2 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0002g0044 a0001c0003t0002g0045	2	398	0.0050	25	c.214 others(42): Show c.214-7737_214-7736insTTTTTTTTTTTTTTTTTTTTTTTTT	MED24	ENSG00000008838.21	transcript	ENST00000394128.7	protein_coding	3/25			chr17	TogoVar
MED27_chr9_131855112_132084867	131966383	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG02572.hp2 others(4): Show HG01891.hp2 HG02572.hp1 HG02572.hp2 HG03098.hp1 NA19030.hp2 NA19081.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0001g0142 a0001c0001t0001g0170 others(4): Show a0001c0001t0001g0037 a0001c0001t0001g0142 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0233 a0001c0001t0002g0084 a0001c0001t0002g0245	7	274	0.0256	25	c.480 others(44): Show c.480-26910_480-26909insTTTTTTTTTTTTTTTTTTTTTTTTT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MED28_chr4_17609641_17639105	17613882	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03516.hp1 HG03225.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0086 a0001c0001t0017 a0001c0001t0086	a0001c0001t0017g0003 a0001c0001t0086g0003 a0001c0001t0017g0003 a0001c0001t0086g0003	2	328	0.0061	25	c.-77 others(34): Show c.-773_-772insAAAAAAAAAAAAAAAAAAAAAAAAA	MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding		758		chr4	TogoVar
MED28_chr4_17609641_17639105	17632160	T T	TGCCTCCT others(18): Show TGCCTCCTAGGTTCAAGTGATCCTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0097 a0001c0001t0048g0097	1	328	0.0031	25	c.83 others(36): Show c.8363_*8387dupGCCTCCTAGGTTCAAGTGATCCTCC	MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding	4/4	8388	INFO_REALIGN_3_PRIME	chr4	TogoVar
MED30_chr8_117515713_117545262	117540699	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG01934.hp2 others(11): Show HG00280.hp1 HG00558.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02071.hp2 HG02132.hp1 HG02523.hp2 HG03834.hp1 NA18954.hp1 NA18986.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0072 a0001c0001t0002g0002 a0001c0001t0002g0014 others(2): Show a0001c0001t0001g0072 a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0049 a0001c0001t0004g0004	14	348	0.0402	25	c.72 others(34): Show c.721_*722insTTTTTTTTTTTTTTTTTTTTTTTTT	MED30	ENSG00000164758.7	transcript	ENST00000297347.7	protein_coding		438		chr8	TogoVar
MED7_chr5_157132424_157147865	157147704	G G	GAATTTTT others(18): Show GAATTTTTTTTTTAGGTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0025 a0001c0001t0010g0025	1	386	0.0026	25	c.-49 others(36): Show c.-4903_-4902insAAAAAAAAAACCTAAAAAAAAAATT	MED7	ENSG00000155868.8	transcript	ENST00000286317.6	protein_coding		4840		chr5	TogoVar

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