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
DYM_chr18_49031387_49465645	49393034	A A	AGGAGGAG others(29): Show AGGAGGAGGAGGGGAGGAGGGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01433.hp1 HG02056.hp1 others(16): Show HG00741.hp1 HG01433.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02300.hp2 NA18747.hp1 NA18943.hp1 NA18947.hp1 NA18951.hp2 NA18964.hp2 NA18979.hp1 NA18989.hp1 NA19003.hp2 NA19004.hp1 NA19012.hp2 NA19063.hp2 NA19065.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0004t0001	a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0024 others(16): Show a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0002g0056 a0001c0001t0003g0026 a0001c0001t0003g0053 a0001c0001t0014g0063 a0001c0004t0001g0035	19	290	0.0655	36	c.141 others(53): Show c.141-1390_141-1389insCCTCCTCCTCCTCCTCCCCTCCTCCCCT CCTCCTCC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	2/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49441276	T T	TTATATAA others(29): Show TTATATAATTATATATAATATAATTATATATAATTAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02735.hp2 HG02886.hp2 others(7): Show HG00408.hp1 HG02735.hp2 HG02886.hp2 HG03225.hp2 NA18612.hp2 NA18953.hp1 NA18994.hp2 NA18995.hp2 NA19079.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0019	a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 others(7): Show a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0221 a0001c0001t0003g0155 a0001c0001t0004g0124 a0001c0001t0005g0156 a0001c0001t0019g0196	10	290	0.0345	36	c.-53 others(55): Show c.-53-10865_-53-10830dupTTAATTATATATAATTATATTATATA TAATTATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(29): Show GTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	280	0.0036	36	c.130 others(55): Show c.13007-175_13007-174insGTGTGTATATATATATATATATATAT ATATATATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(29): Show GTGTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0205 a0001c0001t0051g0205	1	280	0.0036	36	c.130 others(55): Show c.13007-175_13007-174insGTGTGTGTATATATATATATATATAT ATATATATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0061 a0001c0007t0061	a0001c0007t0061g0021 a0001c0007t0061g0021	1	280	0.0036	36	c.130 others(55): Show c.13007-175_13007-174insGTGTGTGTGTGTGTGTGTGTATATAT ATATATATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1I1_chr7_95767554_96103424	95823952	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18522.hp2 HG02258.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0045 a0001c0002t0001g0005 a0001c0001t0001g0045 a0001c0002t0001g0005	2	230	0.0087	36	c.315 others(53): Show c.315-4078_315-4077insATATATATATATATATATATATATATAT ATATATAT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537971	T T	TAATATAT others(29): Show TAATATATATATAATTTATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02145.hp1 HG00099.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0177 a0001c0001t0001g0178	2	336	0.0060	36	c.739 others(51): Show c.739-868_739-867insTATATATATATTATATATATAAATTATATA TATATT	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537971	T T	TAATTTAT others(29): Show TAATTTATATATAATTTATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02132.hp2 HG02083.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0103 a0001c0001t0001g0084 a0001c0001t0001g0103	2	336	0.0060	36	c.739 others(51): Show c.739-868_739-867insTATATATATATTATATATATAAATTATATA TAAATT	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
DYNC2I2_chr9_128628653_128661847	128650526	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0228 a0001c0002t0005g0228	1	368	0.0027	36	c.186 others(53): Show c.186+6014_186+6015insATATATATATATATATATATATATATAT ATATATAT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNC2I2_chr9_128628653_128661847	128655335	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	368	0.0027	36	c.186 others(53): Show c.186+1205_186+1206insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	36	c.75 others(45): Show c.757_*758insAAAATATATATATATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYRK1A_chr21_37361773_37531358	37519743	T T	TGTTTTGT others(29): Show TGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0215 a0001c0001t0120g0215	1	350	0.0029	36	c.72 others(47): Show c.7212_*7213insGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTT TG	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	12/12	7213		chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37519747	T T	TGTTTTGT others(29): Show TGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG02809.hp1 HG01884.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0308 a0001c0001t0038g0310 a0001c0001t0038g0308 a0001c0001t0038g0310	2	350	0.0057	36	c.72 others(47): Show c.7216_*7217insGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTT TG	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	12/12	7217		chr21	TogoVar
DYRK4_chr12_4557208_4618875	4575298	A A	ATTGTGTG others(29): Show ATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	414	0.0024	36	c.132 others(53): Show c.132+7250_132+7251insTTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	2/14			chr12	TogoVar
DZIP1_chr13_95573202_95649706	95575590	C C	CGCGTGTG others(29): Show CGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0136 a0003c0003t0011g0136	1	382	0.0026	36	c.66 others(47): Show c.6643_*6644insACACACACACACACACACACACACACACACACAC GC	DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding		2611		chr13	TogoVar
DZIP1_chr13_95573202_95649706	95575590	C C	CGTGTGTG others(29): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0003 a0003c0003t0011g0003	1	382	0.0026	36	c.66 others(47): Show c.6643_*6644insACACACACACACACACACACACACACACACACAC AC	DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding		2611		chr13	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(29): Show ACACACACACACACACACACACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	318	0.0031	36	c.696 others(53): Show c.696+1880_696+1881insACACACACACACACACACACACACTCTC TCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(29): Show ACACACACACACACACACACACACATACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0230 a0001c0002t0001g0230	1	318	0.0031	36	c.696 others(53): Show c.696+1880_696+1881insACACACACACACACACACACACATACAC TCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(29): Show ACACACACACACACACACACACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	318	0.0031	36	c.696 others(53): Show c.696+1880_696+1881insACACACACACACACACACACTCTCTCTC TCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(29): Show ACACACACACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA19009.hp1 HG02273.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0085 a0001c0001t0001g0089	2	318	0.0063	36	c.696 others(53): Show c.696+1880_696+1881insACACACACACACACACACTCTCTCTCTC TCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(29): Show ACACACACACACACACACATACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03579.hp1 HG03471.hp2 HG03579.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0003 a0003c0006t0002g0003	2	318	0.0063	36	c.696 others(53): Show c.696+1880_696+1881insACACACACACACACACATACACACTCTC TCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(29): Show ACACACACACACACACACTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18955.hp1 HG00544.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0063 a0001c0001t0001g0034 a0001c0001t0001g0063	2	318	0.0063	36	c.696 others(53): Show c.696+1880_696+1881insACACACACACACACACTCTCTCTCTCTC TCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(29): Show ACACACACACACACACATACACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0305 a0001c0001t0003g0305	1	318	0.0031	36	c.696 others(53): Show c.696+1880_696+1881insACACACACACACACATACACTCTCTCTC TCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(29): Show ACACACACACACACACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02056.hp1 HG00673.hp2 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0060 a0001c0001t0001g0025 a0001c0001t0001g0060	2	318	0.0063	36	c.696 others(53): Show c.696+1880_696+1881insACACACACACACACTCTCTCTCTCTCTC TCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(29): Show ACACACACACACACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18994.hp1 NA19070.hp1 others(1): Show HG00597.hp1 NA18994.hp1 NA19070.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0099 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0099 a0001c0001t0001g0205	4	318	0.0126	36	c.696 others(53): Show c.696+1880_696+1881insACACACACACACTCTCTCTCTCTCTCTC TCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(29): Show ACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03654.hp1 HG02970.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0198 a0001c0001t0001g0067 a0001c0001t0001g0198	2	318	0.0063	36	c.696 others(53): Show c.696+1880_696+1881insACACACACACTCTCTCTCTCTCTCTCTC TCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(29): Show ACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	318	0.0031	36	c.696 others(53): Show c.696+1880_696+1881insACACACACTCTCTCTCTCTCTCTCTCTC TCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
E2F6_chr2_11439375_11471161	11466855	G G	GCCTGCCT others(29): Show GCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	366	0.0027	36	c.-97 others(45): Show c.-977_-976insAAGGAAGGAAGGAAGGCAGGCAGGCAGGCAGGCAGG	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11466855	G G	GCCTGCCT others(29): Show GCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG02970.hp1 HG03041.hp2 others(2): Show HG01175.hp1 HG02970.hp1 HG03041.hp2 HG03471.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0092 a0001c0001t0003g0194 a0001c0001t0003g0008 a0001c0001t0003g0092 a0001c0001t0003g0194	5	366	0.0137	36	c.-97 others(45): Show c.-977_-976insAAGGAAGGAAGGAAGGAAGGCAGGCAGGCAGGCAGG	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		695		chr2	TogoVar
EBF1_chr5_158690920_159104916	158696706	C C	CACAACTC others(29): Show CACAACTCCCCTCCCCCACCCACCCCAACCCATAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0068 a0001c0001t0073g0068	1	196	0.0051	36	c.23 others(47): Show c.2369_*2404dupTTTTATGGGTTGGGGTGGGTGGGGGAGGGGAGTT GT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	16/16	2404		chr5	TogoVar
ECPAS_chr9_111355685_111489383	111468689	C C	CGTGTGTG others(29): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03688.hp1 HG03704.hp2 others(2): Show HG02135.hp2 HG03688.hp1 HG03704.hp2 NA18971.hp1 NA19083.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0005 a0002c0003 a0003c0005	a0002c0003t0001 a0003c0005t0002 a0002c0003t0001 a0003c0005t0002	a0002c0003t0001g0006 a0002c0003t0001g0264 a0002c0003t0001g0273 others(2): Show a0002c0003t0001g0006 a0002c0003t0001g0264 a0002c0003t0001g0273 a0002c0003t0001g0296 a0003c0005t0002g0256	5	354	0.0141	36	c.22+ others(51): Show c.22+4207_22+4208insACACACACACACACACACACACACACACAC ACACAC	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
ECSCR_chr5_139443560_139467743	139446465	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	369	0.0027	36	c.24 others(47): Show c.2434_*2435insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2094		chr5	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0020	1	294	0.0034	36	c.62- others(51): Show c.62-3339_62-3338insCTTCCTTCCTTCCTTCCTTCTTTCTTTCTT TCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18970.hp2 HG02486.hp1 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0002 a0001c0003t0001 a0002c0002t0002	a0001c0003t0001g0024 a0002c0002t0002g0286 a0001c0003t0001g0024 a0002c0002t0002g0286	2	294	0.0068	36	c.62- others(51): Show c.62-3339_62-3338insCTTCCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCTTTC others(29): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0226 a0002c0002t0020g0226	1	294	0.0034	36	c.62- others(51): Show c.62-3325_62-3290dupTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236407558	C C	CTTATTTG others(29): Show CTTATTTGGATCCCCAAAGGCATTCCCAGGACCTAAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01109.hp1 HG02015.hp2 others(12): Show HG00673.hp1 HG01109.hp1 HG02015.hp2 HG02145.hp2 HG02165.hp2 HG02451.hp2 HG02523.hp1 HG02809.hp1 HG02886.hp2 HG02965.hp2 HG03516.hp1 HG06807.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0011 a0002c0002t0028	a0001c0001t0001g0125 a0001c0001t0001g0213 a0001c0001t0002g0212 others(12): Show a0001c0001t0001g0125 a0001c0001t0001g0213 a0001c0001t0002g0212 a0001c0001t0003g0124 a0002c0002t0001g0261 a0002c0002t0001g0273 a0002c0002t0001g0276 a0002c0002t0001g0279 a0002c0002t0002g0274 a0002c0002t0004g0260 a0002c0002t0006g0280 a0002c0002t0007g0278 a0002c0002t0007g0281 a0002c0002t0011g0277 a0002c0002t0028g0275	15	294	0.0510	36	c.62- others(51): Show c.62-1656_62-1621dupTATTTGGATCCCCAAAGGCATTCCCAGGAC CTAATT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDA_chrX_69611113_70044472	69655762	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18945.hp1 NA18982.hp1 HG03453.hp1 NA18945.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0073 a0001c0001t0001g0106 a0001c0001t0002g0071 a0001c0001t0001g0073 a0001c0001t0001g0106 a0001c0001t0002g0071	3	226	0.0133	36	c.396 others(55): Show c.396+39083_396+39084insATATATATATATATATATATATATAT ATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDC3_chr15_74625558_74701024	74668729	T T	TGAAAGAA others(29): Show TGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG02074.hp1 others(3): Show HG00735.hp1 HG00735.hp2 HG02074.hp1 HG03654.hp1 NA18952.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0002g0175 others(3): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0002g0175 a0001c0001t0002g0183 a0001c0001t0002g0189 a0001c0001t0002g0202	6	286	0.0210	36	c.484 others(53): Show c.484+2690_484+2725dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769218	C C	CACAAAAA others(29): Show CACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	358	0.0028	36	c.400 others(53): Show c.400-3611_400-3610insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp1 HG03098.hp1 others(5): Show HG02622.hp2 HG02647.hp1 HG03098.hp1 HG03704.hp1 NA18995.hp1 NA19011.hp1 NA19043.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0045 a0001c0001t0002g0053 others(5): Show a0001c0001t0002g0031 a0001c0001t0002g0045 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0074 a0001c0001t0002g0075	8	358	0.0224	36	c.400 others(53): Show c.400-3626_400-3625insATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	358	0.0028	36	c.400 others(53): Show c.400-3626_400-3625insATATATATATATTTTTTTTTTTTTTTTT TTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19001.hp1 NA19007.hp1 NA18522.hp1 NA19001.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0050 a0001c0001t0002g0083 a0001c0001t0002g0025 a0001c0001t0002g0050 a0001c0001t0002g0083	3	358	0.0084	36	c.400 others(53): Show c.400-3626_400-3625insATATATATATATATTTTTTTTTTTTTTT TTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	358	0.0028	36	c.400 others(53): Show c.400-3626_400-3625insATATATATATATATATATTTTTTTTTTT TTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp1 HG02055.hp2 others(1): Show HG00140.hp2 HG01168.hp1 HG02055.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0023 others(1): Show a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024	4	358	0.0112	36	c.400 others(53): Show c.400-3626_400-3625insATATATATATATATATATATTTTTTTTT TTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG01975.hp1 others(4): Show HG00408.hp1 HG00621.hp1 HG01975.hp1 HG02257.hp1 HG02965.hp1 NA19077.hp2 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0003c0008t0001	a0001c0001t0001g0122 a0001c0001t0001g0255 a0001c0001t0003g0130 others(4): Show a0001c0001t0001g0122 a0001c0001t0001g0255 a0001c0001t0003g0130 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0004g0324 a0003c0008t0001g0256	7	358	0.0196	36	c.291 others(51): Show c.291+332_291+333insTATATATATATATATATATATATATATATA TATATA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF1E1_chr6_8074395_8107548	8104701	T T	TTATTTTG others(29): Show TTATTTTGAAAAAGGATAAAGAAAAACACATGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	442	0.0023	36	c.-21 others(47): Show c.-2181_-2180insTTCTTCATGTGTTTTTCTTTATCCTTTTTCAAAA TA	EEF1E1	ENSG00000124802.12	transcript	ENST00000379715.10	protein_coding		2154		chr6	TogoVar
EEFSEC_chr3_128148481_128413646	128152902	C C	CCCCGCCC others(29): Show CCCCGCCCCCCATCCTACCCCCCCGTACCCCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 NA19240.hp2 HG02818.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0217 a0001c0001t0001g0200 a0001c0001t0001g0217	2	272	0.0074	36	c.-60 others(45): Show c.-606_-605insCCCGCCCCCCATCCTACCCCCCCGTACCCCCGCCCT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		578		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152902	C C	CCCCGCCC others(29): Show CCCCGCCCCCCATCCTACCCCCCCGTCCCCCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01496.hp1 HG01515.hp1 others(14): Show HG01255.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01934.hp2 HG01943.hp2 HG02109.hp1 HG02258.hp2 HG02602.hp1 HG02717.hp2 HG02896.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp2 HG03486.hp1 HG06807.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0001 a0002c0007t0001 a0001c0002t0001 a0002c0007t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(14): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0025 a0001c0002t0001g0039 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0065 a0002c0007t0001g0021	17	272	0.0625	36	c.-60 others(45): Show c.-606_-605insCCCGCCCCCCATCCTACCCCCCCGTCCCCCCGCCCT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		578		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152902	C C	CCCCGCCC others(29): Show CCCCGCCCCCCATCCTACCCCCCGGTCCCCCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02559.hp2 HG01255.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0202 a0001c0003t0001g0203	2	272	0.0074	36	c.-60 others(45): Show c.-606_-605insCCCGCCCCCCATCCTACCCCCCGGTCCCCCCGCCCT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		578		chr3	TogoVar
EEIG1_chr9_127935582_127985989	127985663	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG01258.hp2 others(1): Show HG01256.hp1 HG01256.hp2 HG01258.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0023 a0001c0001t0001 a0001c0001t0022 a0001c0001t0023	a0001c0001t0001g0164 a0001c0001t0001g0229 a0001c0001t0022g0155 others(1): Show a0001c0001t0001g0164 a0001c0001t0001g0229 a0001c0001t0022g0155 a0001c0001t0023g0156	4	342	0.0117	36	c.-55 others(47): Show c.-5527_-5526insTATATATATATATATATATATATATATATATATA TA	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4675		chr9	TogoVar

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