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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01891.hp2 HG00738.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0151 a0001c0001t0002g0160 a0001c0001t0001g0151 a0001c0001t0002g0160	2	372	0.0054	14	c.979 others(31): Show c.979+2237_979+2250dupTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4E3_chr3_71670414_71730402	71686543	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02027.hp1 HG03669.hp1 others(2): Show HG00733.hp1 HG02027.hp1 HG03669.hp1 HG04228.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0017 others(1): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0017 a0001c0001t0083	a0001c0001t0005g0268 a0001c0001t0011g0136 a0001c0001t0017g0109 others(2): Show a0001c0001t0005g0268 a0001c0001t0011g0136 a0001c0001t0017g0109 a0001c0001t0017g0343 a0001c0001t0083g0296	5	398	0.0126	14	c.629 others(31): Show c.629-1829_629-1816dupACACACACACACAC	EIF4E3	ENSG00000163412.13	transcript	ENST00000425534.8	protein_coding	6/6			chr3	TogoVar
EIF4E3_chr3_71670414_71730402	71729798	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00597.hp1 others(21): Show HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00642.hp2 HG01167.hp1 HG01192.hp2 HG01496.hp1 HG02004.hp1 HG02074.hp1 HG02132.hp2 HG02809.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03516.hp1 HG03579.hp2 HG03710.hp1 NA18940.hp2 NA18948.hp1 NA18956.hp2 NA18992.hp2 NA19030.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0050 a0001c0001t0056 a0001c0001t0080	a0001c0001t0001g0008 a0001c0001t0001g0067 a0001c0001t0001g0162 others(21): Show a0001c0001t0001g0008 a0001c0001t0001g0067 a0001c0001t0001g0162 a0001c0001t0001g0249 a0001c0001t0001g0327 a0001c0001t0002g0040 a0001c0001t0002g0051 a0001c0001t0002g0106 a0001c0001t0002g0149 a0001c0001t0002g0191 a0001c0001t0002g0293 a0001c0001t0003g0072 a0001c0001t0003g0085 a0001c0001t0003g0234 a0001c0001t0003g0300 a0001c0001t0004g0155 a0001c0001t0004g0165 a0001c0001t0007g0258 a0001c0001t0008g0103 a0001c0001t0009g0104 a0001c0001t0012g0110 a0001c0001t0050g0114 a0001c0001t0056g0167 a0001c0001t0080g0269	24	398	0.0603	14	c.-44 others(25): Show c.-4445_-4432dupCACACACACACACA	EIF4E3	ENSG00000163412.13	transcript	ENST00000425534.8	protein_coding		4397		chr3	TogoVar
EIF4EBP2_chr10_70399145_70433618	70401403	A A	AATAATAA others(7): Show AATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18962.hp1 NA18906.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0055 a0001c0001t0009 a0001c0001t0055	a0001c0001t0009g0094 a0001c0001t0055g0084 a0001c0001t0009g0094 a0001c0001t0055g0084	2	422	0.0047	14	c.-29 others(25): Show c.-2999_-2998insATAATAATAATAAT	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding		2741		chr10	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31450844	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	366	0.0027	14	c.151 others(31): Show c.1513-498_1513-485dupGTGTGTGTGTGTGT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	10/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(7): Show AAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03225.hp2 HG03130.hp2 HG03225.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0011 a0001c0003 a0003c0011	a0001c0003t0001 a0003c0011t0001 a0001c0003t0001 a0003c0011t0001	a0001c0003t0001g0339 a0003c0011t0001g0263 a0001c0003t0001g0339 a0003c0011t0001g0263	2	366	0.0055	14	c.299 others(29): Show c.299-733_299-732insATATTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(7): Show AAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	366	0.0027	14	c.299 others(29): Show c.299-733_299-732insATATATTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(7): Show AAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0349 a0001c0003t0001g0349	1	366	0.0027	14	c.299 others(29): Show c.299-733_299-732insATATATATTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAATA others(7): Show AAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03710.hp2 HG02717.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0250 a0001c0001t0001g0251	2	366	0.0055	14	c.299 others(29): Show c.299-733_299-732insATATATATATTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4E_chr4_98874276_98934133	98914361	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0079 a0001c0002t0003g0079	1	300	0.0033	14	c.19- others(31): Show c.19-12393_19-12380dupTTTTTTTTTTTTTT	EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	1/6			chr4	TogoVar
EIF4G3_chr1_20801479_21181897	20857162	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03710.hp1 NA18943.hp2 others(2): Show HG02027.hp1 HG03710.hp1 NA18943.hp2 NA18966.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0001t0002 a0001c0001t0004 a0001c0001t0017	a0001c0001t0002g0084 a0001c0001t0004g0218 a0001c0001t0004g0223 others(2): Show a0001c0001t0002g0084 a0001c0001t0004g0218 a0001c0001t0004g0223 a0001c0001t0004g0234 a0001c0001t0017g0003	5	312	0.0160	14	c.333 others(31): Show c.3339+227_3339+240dupTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	25/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20882176	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02602.hp1 HG02647.hp2 others(4): Show HG02132.hp2 HG02602.hp1 HG02647.hp2 HG03239.hp1 HG03710.hp1 HG03927.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010	a0001c0001t0002g0047 a0001c0001t0003g0258 a0001c0001t0004g0216 others(4): Show a0001c0001t0002g0047 a0001c0001t0003g0258 a0001c0001t0004g0216 a0001c0001t0004g0223 a0001c0001t0004g0228 a0001c0001t0005g0290 a0001c0001t0010g0232	7	312	0.0224	14	c.242 others(33): Show c.2425-2670_2425-2657dupGTGTGTGTGTGTGT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	19/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20943967	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18906.hp1 NA18966.hp2 HG03834.hp1 NA18906.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0245 a0001c0001t0003g0265 a0001c0001t0005g0294 a0001c0001t0003g0245 a0001c0001t0003g0265 a0001c0001t0005g0294	3	312	0.0096	14	c.824 others(31): Show c.824-1638_824-1637insACACACACACACAC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	13/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21007515	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00673.hp2 HG01070.hp2 others(36): Show HG00140.hp1 HG00673.hp2 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp2 HG01175.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02258.hp1 HG02451.hp2 HG02698.hp1 HG02976.hp1 HG03195.hp1 HG03453.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03927.hp1 HG04115.hp1 HG04228.hp1 NA18939.hp1 NA18962.hp1 NA18965.hp2 NA19056.hp2 NA19084.hp2 NA19087.hp2 NA19240.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0012 a0007c0010 a0001c0001 a0005c0012 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0018 a0005c0012t0002 a0007c0010t0001	a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0144 others(36): Show a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0144 a0001c0001t0001g0199 a0001c0001t0002g0004 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0003g0026 a0001c0001t0003g0239 a0001c0001t0003g0244 a0001c0001t0003g0249 a0001c0001t0003g0256 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0291 a0001c0001t0008g0304 a0001c0001t0013g0034 a0001c0001t0018g0073 a0005c0012t0002g0005 a0007c0010t0001g0122	39	312	0.1250	14	c.-66 others(31): Show c.-66-4721_-66-4708dupTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	4/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21007529	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0270	1	312	0.0032	14	c.-66 others(31): Show c.-66-4722_-66-4721insGTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	4/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21068375	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01358.hp2 HG02155.hp2 others(2): Show HG01261.hp1 HG01358.hp2 HG02155.hp2 HG02300.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0059 others(2): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0059 a0001c0001t0002g0072 a0001c0001t0018g0073	5	312	0.0160	14	c.-19 others(35): Show c.-195-17395_-195-17382dupTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21083037	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03710.hp1 HG03239.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0216 a0001c0001t0004g0223 a0001c0001t0004g0216 a0001c0001t0004g0223	2	312	0.0064	14	c.-19 others(33): Show c.-196+6087_-196+6100dupTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21101562	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00544.hp1 others(94): Show HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00673.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02132.hp1 HG02155.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18980.hp1 NA18982.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0007 a0008	a0001c0001 a0003c0005 a0006c0008 others(2): Show a0001c0001 a0003c0005 a0006c0008 a0007c0010 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0023 a0003c0005t0001 a0006c0008t0001 a0007c0010t0001 a0008c0007t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 others(94): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0227 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0089 a0001c0001t0003g0028 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0260 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0270 a0001c0001t0004g0025 a0001c0001t0004g0221 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0287 a0001c0001t0005g0292 a0001c0001t0006g0012 a0001c0001t0006g0150 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0164 a0001c0001t0006g0178 a0001c0001t0006g0193 a0001c0001t0008g0301 a0001c0001t0008g0303 a0001c0001t0008g0305 a0001c0001t0010g0202 a0001c0001t0010g0220 a0001c0001t0023g0029 a0003c0005t0001g0137 a0003c0005t0001g0156 a0006c0008t0001g0184 a0007c0010t0001g0122 a0008c0007t0001g0191	97	312	0.3109	14	c.-27 others(35): Show c.-271-12350_-271-12349insTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21117756	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	312	0.0032	14	c.-27 others(35): Show c.-271-28544_-271-28543insGTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21141377	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	312	0.0032	14	c.-27 others(35): Show c.-272+34784_-272+34797dupCACACACACACACA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180027	A A	ATTACATA others(7): Show ATTACATATATTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02976.hp2 HG03041.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0204 a0001c0001t0009g0205 a0001c0001t0009g0206 a0001c0001t0009g0204 a0001c0001t0009g0205 a0001c0001t0009g0206	3	312	0.0096	14	c.-37 others(25): Show c.-3762_-3761insCATAATATATGTAA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3131		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180071	T T	TACGTAAT others(7): Show TACGTAATATATTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG02622.hp2 others(4): Show HG00140.hp2 HG01074.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG03486.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 others(4): Show a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0214 a0001c0001t0003g0271 a0001c0001t0005g0295 a0001c0002t0001g0098	7	312	0.0224	14	c.-38 others(25): Show c.-3806_-3805insGTAATATATTACGT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3175		chr1	TogoVar
EIF4H_chr7_74169356_74202096	74186788	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	374	0.0027	14	c.60- others(27): Show c.60-784_60-771dupTTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF4H_chr7_74169356_74202096	74201908	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02056.hp1 HG03704.hp2 others(1): Show HG00558.hp1 HG02056.hp1 HG03704.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0013 a0001c0001t0001g0056 a0001c0001t0006g0129 a0001c0001t0001g0013 a0001c0001t0001g0056 a0001c0001t0006g0129	4	374	0.0107	14	c.66 others(25): Show c.6600_*6601insTTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding		4813		chr7	TogoVar
EIF6_chr20_35273918_35289772	35288158	G G	GCCTGGGC others(7): Show GCCTGGGCACACGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(147): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18943.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18964.hp2 NA18972.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19066.hp2 NA19077.hp1 NA19079.hp2 NA19083.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 others(36): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0071 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0005g0074 a0001c0001t0006g0066 a0001c0001t0008g0060	150	386	0.3886	14	c.-34 others(25): Show c.-3439_-3438insGCCGTGTGCCCAGG	EIF6	ENSG00000242372.9	transcript	ENST00000374450.8	protein_coding		3387		chr20	TogoVar
EIPR1_chr2_3183970_3382818	3199060	G G	GCCCCCCC others(7): Show GCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	250	0.0040	14	c.517 others(31): Show c.517-2044_517-2043insGGGGGGGGGGGGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	5/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3225220	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0078 a0001c0002t0005g0078	1	250	0.0040	14	c.417 others(33): Show c.417-10973_417-10972insCACACACACACACA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3225222	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03831.hp2 HG01993.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0060 a0001c0001t0001g0061	2	250	0.0080	14	c.417 others(33): Show c.417-10988_417-10975dupCACACACACACACA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3237221	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18945.hp2 NA18952.hp1 HG01099.hp2 NA18945.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0126 a0001c0001t0001g0213 a0001c0001t0001g0053 a0001c0001t0001g0126 a0001c0001t0001g0213	3	250	0.0120	14	c.416 others(33): Show c.416+20064_416+20077dupGTGTGTGTGTGTGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
ELAC1_chr18_50963040_50993121	50971908	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0085 a0001c0001t0011g0085	1	384	0.0026	14	c.-8- others(29): Show c.-8-2488_-8-2487insATATATATATATAT	ELAC1	ENSG00000141642.9	transcript	ENST00000269466.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELAC1_chr18_50963040_50993121	50971910	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	384	0.0026	14	c.-8- others(29): Show c.-8-2486_-8-2485insATATATATATATAT	ELAC1	ENSG00000141642.9	transcript	ENST00000269466.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELAC2_chr17_12986612_13023027	12986673	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0101 a0002c0002t0005g0101	1	400	0.0025	14	c.61 others(25): Show c.6131_*6144dupTTTTTTTTTTTTTT	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4938		chr17	TogoVar
ELAC2_chr17_12986612_13023027	12989101	C C	CCCCAAAA others(7): Show CCCCAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0097 a0002c0002t0005g0097	1	400	0.0025	14	c.37 others(25): Show c.3716_*3717insTTTTTTTTTTTGGG	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		2510		chr17	TogoVar
ELAC2_chr17_12986612_13023027	12989101	C C	CCGAAAAA others(7): Show CCGAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG02976.hp1 HG02976.hp2 others(3): Show HG00642.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG06807.hp1 NA20805.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0006 a0003c0006t0006 a0002c0002t0006 a0003c0006t0006	a0002c0002t0006g0009 a0002c0002t0006g0085 a0003c0006t0006g0010 others(2): Show a0002c0002t0006g0009 a0002c0002t0006g0085 a0003c0006t0006g0010 a0003c0006t0006g0088 a0003c0006t0006g0089	6	400	0.0150	14	c.37 others(25): Show c.3716_*3717insTTTTTTTTTTTTCG	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		2510		chr17	TogoVar
ELAC2_chr17_12986612_13023027	13009990	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0012 a0002c0008t0012	a0002c0008t0012g0079 a0002c0008t0012g0079	1	400	0.0025	14	c.738 others(29): Show c.738+609_738+622dupTTTTTTTTTTTTTT	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding	8/23			chr17	TogoVar
ELAC2_chr17_12986612_13023027	13019504	C C	CTTTACAC others(7): Show CTTTACACAGTTAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0221 a0001c0001t0011g0221	1	400	0.0025	14	c.-15 others(25): Show c.-1558_-1557insTCTAACTGTGTAAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		1478		chr17	TogoVar
ELAC2_chr17_12986612_13023027	13022540	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02602.hp2 NA18985.hp2 others(1): Show HG00741.hp1 HG02602.hp2 NA18985.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0002 a0001c0001t0001 a0001c0016t0002	a0001c0001t0001g0001 a0001c0001t0001g0137 a0001c0001t0001g0177 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0137 a0001c0001t0001g0177 a0001c0016t0002g0129	4	400	0.0100	14	c.-45 others(25): Show c.-4594_-4593insAAGAAAGAAAGAAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4514		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109113400	G G	GAGAGAGA others(7): Show GAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0005 a0001c0022t0005	a0001c0022t0005g0132 a0001c0022t0005g0132	1	230	0.0044	14	c.-78 others(23): Show c.-784_-783insAGAGAGAGAGAGAA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		714		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109113416	A A	AAGAGAGA others(7): Show AAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0140 a0002c0003t0011g0140	1	230	0.0044	14	c.-76 others(23): Show c.-768_-767insAGAGAGAGAGAGAG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		698		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109113451	A A	AGAGAGAG others(7): Show AGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0019 a0001c0001t0019g0019	1	230	0.0044	14	c.-73 others(23): Show c.-733_-732insGAGAGAGAGGGAGT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		663		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109138834	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0079 a0002c0003t0003g0086 a0002c0003t0003g0079 a0002c0003t0003g0086	2	230	0.0087	14	c.154 others(33): Show c.154-23056_154-23043dupAAAAAAAAAAAAAA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0009 a0009	a0009c0041 a0009c0041	a0009c0041t0002 a0009c0041t0002	a0009c0041t0002g0156 a0009c0041t0002g0156	1	230	0.0044	14	c.154 others(33): Show c.154-17832_154-17831insATATATATATATTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATTTTT others(7): Show ATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02922.hp1 HG02723.hp1 HG02922.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0015 a0002c0005t0006g0061 a0002c0005t0006g0015 a0002c0005t0006g0061	2	230	0.0087	14	c.154 others(33): Show c.154-17832_154-17831insATTTTTTTTTTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02897.hp2 HG00642.hp1 HG02897.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0016 a0002c0005t0006g0060 a0002c0005t0006g0016 a0002c0005t0006g0060	2	230	0.0087	14	c.154 others(33): Show c.154-17831_154-17818dupTTTTTTTTTTTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109197688	A A	AGAGAGAG others(7): Show AGAGAGAGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0063 a0001c0001t0036g0063	1	230	0.0044	14	c.230 others(29): Show c.2302+35_2302+36insAGAGAGTGTGTGTG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR2_chr7_86871906_87064654	86924374	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG04115.hp2 NA18942.hp1 others(11): Show HG01168.hp2 HG04115.hp2 NA18942.hp1 NA18946.hp2 NA18954.hp2 NA18977.hp2 NA18991.hp2 NA18999.hp1 NA19002.hp2 NA19060.hp2 NA19074.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0049 others(11): Show a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0129 a0001c0001t0001g0175	14	196	0.0714	14	c.139 others(33): Show c.1399+1140_1399+1153dupGTGTGTGTGTGTGT	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	10/21			chr7	TogoVar
ELAPOR2_chr7_86871906_87064654	86946159	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp2 HG01071.hp2 others(7): Show HG00423.hp2 HG00642.hp2 HG01071.hp2 HG01081.hp2 HG01433.hp2 HG03098.hp2 HG04204.hp1 NA18942.hp1 NA18977.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0004 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0004 a0001c0003t0007 a0001c0003t0011	a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0065 others(7): Show a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0004g0119 a0001c0003t0004g0094 a0001c0003t0004g0131 a0001c0003t0004g0137 a0001c0003t0007g0154 a0001c0003t0011g0100	10	196	0.0510	14	c.507 others(31): Show c.507-1127_507-1114dupTGTGTGTGTGTGTG	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	3/21			chr7	TogoVar
ELAPOR2_chr7_86871906_87064654	86974580	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18944.hp1 NA18961.hp2 HG02809.hp1 NA18944.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0002g0009 a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0002g0009	3	196	0.0153	14	c.190 others(31): Show c.190-9570_190-9557dupACACACACACACAC	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	1/21			chr7	TogoVar
ELAVL2_chr9_23685104_23831240	23699812	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02056.hp2 HG03017.hp1 HG00621.hp1 HG02056.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0073 a0001c0001t0001g0252 a0001c0001t0001g0253	3	352	0.0085	14	c.713 others(31): Show c.713+1553_713+1566dupAAAAAAAAAAAAAA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	5/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23702951	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04199.hp2 NA20752.hp1 HG03704.hp2 HG04199.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0054 a0001c0001t0001g0189 a0001c0002t0002g0043 a0001c0001t0001g0054 a0001c0001t0001g0189 a0001c0002t0002g0043	3	352	0.0085	14	c.488 others(31): Show c.488-1361_488-1348dupTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	4/6			chr9	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)