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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
DYNLT4_chr1_44800893_44812351	44810038	TGGAGCTG others(27): Show TGGAGCTGGGACTAGAACTCAGGGCTTTGGGTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	392	0.0026	-34	c.-28 others(45): Show c.-2814_-2781delGGGACCCAAAGCCCTGAGTTCTAGTCCCAGCTCC		DYNLT4	ENSG00000188396.4	transcript	ENST00000339355.3	protein_coding				2688		chr1	TogoVar
DZIP1L_chr3_138056990_138120608	138091663	GGGAGGGA others(27): Show GGGAGGGAGAGAGGGAGGGAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0213 a0002c0002t0002g0213	1	312	0.0032	-34	c.870 others(49): Show c.870+686_870+719delTCCTTCCTTCCTTCCTCCCTCCCTCTCTCC CTCC		DZIP1L	ENSG00000158163.15	transcript	ENST00000327532.7	protein_coding	5/15					chr3	TogoVar
EBF3_chr10_129830233_129969274	129905409	TTCTTTCT others(27): Show TTCTTTCTTATATTTTATATTATAAAAATATTATC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG06807.hp2 NA20129.hp2 HG02965.hp2 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0001t0001 a0001c0001t0003 a0001c0001t0020	a0001c0001t0001g0278 a0001c0001t0003g0284 a0001c0001t0020g0074 a0001c0001t0001g0278 a0001c0001t0003g0284 a0001c0001t0020g0074	3	338	0.0089	-34	c.555 others(53): Show c.555-27594_555-27561delGATAATATTTTTATAATATAAAATAT AAGAAAGA		EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16					chr10	TogoVar
EDDM3A_chr14_20740887_20753380	20748397	GTTATGTG others(27): Show GTTATGTGTGCAGAGTATGTATCGTGTGATTGGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	446	0.0022	-34	c.37 others(43): Show c.374_*407delTTATGTGTGCAGAGTATGTATCGTGTGATTGGTA		EDDM3A	ENSG00000181562.5	transcript	ENST00000326842.3	protein_coding				18		chr14	TogoVar
EDEM3_chr1_184685237_184759858	184751091	ACATTTCA others(27): Show ACATTTCATTATTTAAAAAAAGACCTTACCACCAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(99): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00609.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp2 HG02602.hp2 HG03239.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18975.hp2 NA18981.hp1 NA18982.hp2 NA18986.hp1 NA18991.hp1 NA18993.hp1 NA18995.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19054.hp2 NA19062.hp1 NA19063.hp1 NA19067.hp2 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 others(7): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 a0002c0002t0012 a0002c0002t0015 a0002c0002t0016 a0002c0002t0021 a0002c0002t0022 a0002c0002t0037 a0002c0011t0002	a0002c0002t0002g0001 a0002c0002t0002g0004 a0002c0002t0002g0005 others(79): Show a0002c0002t0002g0001 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0234 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0248 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0282 a0002c0002t0004g0235 a0002c0002t0004g0247 a0002c0002t0004g0257 a0002c0002t0008g0194 a0002c0002t0008g0211 a0002c0002t0008g0229 a0002c0002t0008g0236 a0002c0002t0008g0237 a0002c0002t0008g0250 a0002c0002t0012g0198 a0002c0002t0012g0206 a0002c0002t0012g0207 a0002c0002t0015g0017 a0002c0002t0016g0223 a0002c0002t0016g0230 a0002c0002t0021g0217 a0002c0002t0022g0233 a0002c0002t0037g0249 a0002c0011t0002g0208	102	324	0.3148	-34	c.159 others(51): Show c.159-1533_159-1500delGTGGTGGTAAGGTCTTTTTTTAAATAAT GAAATG		EDEM3	ENSG00000116406.20	transcript	ENST00000318130.13	protein_coding	1/19					chr1	TogoVar
EFCAB11_chr14_89789669_89959730	89917064	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02280.hp2 HG02717.hp2 others(3): Show HG01192.hp1 HG02280.hp2 HG02717.hp2 HG02886.hp1 HG03139.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0008 a0001c0001t0010	a0001c0001t0008g0175 a0001c0001t0008g0176 a0001c0001t0008g0177 others(3): Show a0001c0001t0008g0175 a0001c0001t0008g0176 a0001c0001t0008g0177 a0001c0001t0008g0178 a0001c0001t0008g0179 a0001c0001t0010g0180	6	284	0.0211	-34	c.410 others(53): Show c.410+14443_410+14476delTACACACACACACACACACACACACA CACACACA		EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5					chr14	TogoVar
EFCAB6_chr22_43523778_43817305	43784548	TGTATATA others(27): Show TGTATATATACACATATATATGTGTACATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18957.hp2 NA18961.hp2 others(1): Show HG02040.hp2 NA18957.hp2 NA18961.hp2 NA18965.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0020 a0005c0004t0001g0130 a0005c0004t0001g0131 others(1): Show a0005c0004t0001g0020 a0005c0004t0001g0130 a0005c0004t0001g0131 a0005c0004t0001g0132	4	290	0.0138	-34	c.-7- others(49): Show c.-7-2257_-7-2224delGTGTATATGTACACATATATATGTGTATAT ATAC		EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31					chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43784549	GTATATAT others(27): Show GTATATATACACATATATATGTGTACATATACACA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0005 a0007c0014t0005	a0007c0014t0005g0014 a0007c0014t0005g0014	1	290	0.0035	-34	c.-7- others(49): Show c.-7-2258_-7-2225delTGTGTATATGTACACATATATATGTGTATA TATA		EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31					chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32913678	AAATGCCC others(27): Show AAATGCCCCTCTAGCTGTGAACCTGTGATGCTAAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01123.hp2 HG01361.hp2 others(31): Show HG00323.hp1 HG01123.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02257.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02809.hp1 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp2 NA20300.hp1 NA21309.hp1	a0002 a0005 a0007 others(5): Show a0002 a0005 a0007 a0017 a0018 a0025 a0043 a0044	a0002c0002 a0005c0013 a0005c0033 others(8): Show a0002c0002 a0005c0013 a0005c0033 a0005c0035 a0007c0006 a0017c0017 a0018c0026 a0018c0051 a0025c0025 a0043c0045 a0044c0044	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(12): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0005c0013t0001 a0005c0033t0008 a0005c0035t0001 a0007c0006t0001 a0007c0006t0004 a0017c0017t0007 a0018c0026t0003 a0018c0051t0003 a0025c0025t0001 a0025c0025t0002 a0043c0045t0007 a0044c0044t0002	a0002c0002t0001g0093 a0002c0002t0001g0128 a0002c0002t0001g0129 others(31): Show a0002c0002t0001g0093 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0221 a0002c0002t0001g0225 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0261 a0002c0002t0001g0264 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0003g0223 a0002c0002t0004g0101 a0002c0002t0004g0102 a0005c0013t0001g0200 a0005c0033t0008g0113 a0005c0035t0001g0095 a0007c0006t0001g0236 a0007c0006t0001g0247 a0007c0006t0004g0199 a0017c0017t0007g0217 a0017c0017t0007g0227 a0017c0017t0007g0228 a0018c0026t0003g0226 a0018c0051t0003g0224 a0025c0025t0001g0193 a0025c0025t0002g0019 a0043c0045t0007g0133 a0044c0044t0002g0202	34	284	0.1197	-34	c.185 others(51): Show c.1856+816_1856+849delATGCCCCTCTAGCTGTGAACCTGTGATG CTAACA		EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	17/26				INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32939104	CCTTTCTT others(27): Show CCTTTCTTTCTCTCTTTCTTTCTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0002 a0014c0014t0002	a0014c0014t0002g0040 a0014c0014t0002g0040	1	284	0.0035	-34	c.279 others(53): Show c.2791-4521_2791-4488delCTCTTTCTTTCTCTTTCTTTCTTTCT TTCTTTCT		EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26				INFO_REALIGN_3_PRIME	chr20	TogoVar
EHMT1_chr9_137614005_137841127	137818862	GCGCCGTG others(27): Show GCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	170	0.0059	-34	c.354 others(51): Show c.3540+725_3540+758delCGCCGTGTACCGAGACCGTAGAGAGGCC GACTGA		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26					chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819470	GCGCCGTG others(27): Show GCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	170	0.0059	-34	c.354 others(53): Show c.3540+1333_3540+1366delCGCCGTGTACCGAGACCGTAGAGAGG CCGACTTA		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26					chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819508	GCGCCGTG others(27): Show GCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	170	0.0059	-34	c.354 others(53): Show c.3540+1371_3540+1404delCGCCGTGTACCGAGACCGTAGAGAGG CCGACTGA		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26					chr9	TogoVar
EIF2B1_chr12_123615406_123638686	123620580	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0187 a0001c0001t0046g0187	1	322	0.0031	-34	c.11 others(45): Show c.1142_*1175delTATATATATATATATATATATATATATATATATA		EIF2B1	ENSG00000111361.13	transcript	ENST00000424014.7	protein_coding	9/9			1142		chr12	TogoVar
EIF3A_chr10_119028670_119085817	119084974	TAACTAAG others(27): Show TAACTAAGGTTCACAGTAATACATTCCTTCAACAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	350	0.0029	-34	c.-43 others(45): Show c.-4332_-4299delTTGTTGAAGGAATGTATTACTGTGAACCTTAGTT		EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding				4158		chr10	TogoVar
EIF3E_chr8_108196216_108253717	108204746	TAGAGAGA others(27): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0197 a0001c0001t0010g0197	1	348	0.0029	-34	c.106 others(53): Show c.1062-1277_1062-1244delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT		EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	10/12					chr8	TogoVar
EIF3E_chr8_108196216_108253717	108204748	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp2 HG02976.hp2 HG01109.hp1 HG02451.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0176 a0001c0001t0010g0185 a0001c0001t0010g0186 a0001c0001t0010g0176 a0001c0001t0010g0185 a0001c0001t0010g0186	3	348	0.0086	-34	c.106 others(53): Show c.1062-1279_1062-1246delGTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT		EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	10/12					chr8	TogoVar
EIF3G_chr19_10110014_10124899	10121363	AGACCAGC others(27): Show AGACCAGCCTGGGCAATATGGCGAAACCCCGTCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	458	0.0022	-34	c.-15 others(45): Show c.-1538_-1505delAAGACGGGGTTTCGCCATATTGCCCAGGCTGGTC		EIF3G	ENSG00000130811.12	transcript	ENST00000253108.9	protein_coding				1465		chr19	TogoVar
EIF4A1_chr17_7567825_7584006	7571834	CTTTTATA others(27): Show CTTTTATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	436	0.0023	-34	c.-10 others(44): Show c.-1007_-974delTTTTATATATATATATATATATATATATATATAT		EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding				990		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571837	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00597.hp2 others(9): Show HG00544.hp1 HG00558.hp2 HG00597.hp2 HG01993.hp1 HG02135.hp2 HG03017.hp2 HG03654.hp1 NA18963.hp1 NA18983.hp2 NA18994.hp1 NA19057.hp2 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0002 a0001c0004t0001g0005 a0001c0004t0001g0018 others(1): Show a0001c0002t0001g0002 a0001c0004t0001g0005 a0001c0004t0001g0018 a0001c0004t0001g0027	12	436	0.0275	-34	c.-10 others(44): Show c.-1004_-971delTATATATATATATATATATATATATATATATATA		EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding				987		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571876	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03471.hp1 NA19086.hp2 others(1): Show HG02922.hp2 HG03471.hp1 NA19086.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 a0001c0001t0001 a0001c0003t0002 a0001c0004t0001	a0001c0001t0001g0008 a0001c0003t0002g0003 a0001c0004t0001g0029 a0001c0001t0001g0008 a0001c0003t0002g0003 a0001c0004t0001g0029	4	436	0.0092	-34	c.-96 others(43): Show c.-965_-932delATATATATATATATATATATATATATATATATAA		EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding				948		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571878	TATATATA others(27): Show TATATATATATATATATATATATATATATATAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00673.hp1 others(7): Show HG00544.hp2 HG00558.hp1 HG00673.hp1 HG01256.hp2 HG02004.hp1 HG03017.hp1 NA18967.hp2 NA18997.hp1 NA19058.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0025 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0003g0001 a0001c0001t0007g0025	10	436	0.0229	-34	c.-96 others(43): Show c.-963_-930delATATATATATATATATATATATATATATATAAAA		EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding				946		chr17	TogoVar
EIF4B_chr12_53001456_53047215	53039625	TGCAGGAA others(27): Show TGCAGGAAAGATGGCAAAAAGGATCAAGACTCCAG	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA19000.hp2 NA19000.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0152 a0004c0008t0001g0152	1	372	0.0027	-34	c.168 others(45): Show c.1683-4_1712delGCAGGAAAGATGGCAAAAAGGATCAAGACTCCAG	p.Lys others(13): Show p.Lys562_Arg571del	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	14/15	1683/1836	561/611			chr12	TogoVar
EIF4EBP1_chr8_38025534_38065365	38053817	TATGATTT others(27): Show TATGATTTCACTATATAAGATACCTAGAGTAGTCA	T T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0141 a0001c0001t0005g0141	1	344	0.0029	-34	c.146 others(51): Show c.146-3262_146-3229delTGATTTCACTATATAAGATACCTAGAGT AGTCAA		EIF4EBP1	ENSG00000187840.5	transcript	ENST00000338825.5	protein_coding	1/2				INFO_REALIGN_3_PRIME	chr8	TogoVar
EIPR1_chr2_3183970_3382818	3331100	GGCAGGCA others(27): Show GGCAGGCACACACTCCTGAGGTGGTGTGAGCAGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	250	0.0040	-34	c.259 others(51): Show c.259+6883_259+6916delTTCTGCTCACACCACCTCAGGAGTGTGT GCCTGC		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8					chr2	TogoVar
EIPR1_chr2_3183970_3382818	3336833	GAAGGGAA others(27): Show GAAGGGAAAGGAAGGGAAAAGGGAAGGGAAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	250	0.0040	-34	c.259 others(51): Show c.259+1150_259+1183delTTCCCTTCCCTTCCCTTTTCCCTTCCTT TCCCTT		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8					chr2	TogoVar
EIPR1_chr2_3183970_3382818	3336841	AGGAAGGG others(27): Show AGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02630.hp1 HG03098.hp1 HG01106.hp1 HG02630.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0001g0011 a0001c0001t0002g0012 a0001c0001t0002g0013	3	250	0.0120	-34	c.259 others(51): Show c.259+1142_259+1175delCTTCCCTTTTCCCTTCCCTTCCCTTTTC CCTTCC		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8					chr2	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18999.hp2 HG02486.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0326 a0001c0001t0001g0128 a0001c0001t0001g0326	2	352	0.0057	-34	c.-15 others(53): Show c.-15-17764_-15-17731delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6					chr9	TogoVar
ELL2_chr5_95880098_95966851	95950898	GTATGTGT others(27): Show GTATGTGTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02896.hp2 HG02965.hp1 others(3): Show HG02622.hp1 HG02896.hp2 HG02965.hp1 HG03579.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0012 a0001c0004t0001 a0001c0003t0012 a0001c0004t0001	a0001c0003t0012g0015 a0001c0003t0012g0016 a0001c0004t0001g0021 others(3): Show a0001c0003t0012g0015 a0001c0003t0012g0016 a0001c0004t0001g0021 a0001c0004t0001g0022 a0001c0004t0001g0023 a0001c0004t0001g0024	6	314	0.0191	-34	c.148 others(51): Show c.148-7883_148-7850delTATATATATATATATATATATATATATA CACATA		ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	1/11					chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60802091	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0204 a0001c0001t0006g0204	1	258	0.0039	-34	c.-85 others(51): Show c.-85-2895_-85-2862delGTGTGTGTATATATATATATATATATAT ATATAT		ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8					chr5	TogoVar
ELP1_chr9_108862517_108939124	108900756	ACACACAC others(27): Show ACACACACACATACACGCCACACACACATACACGC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01175.hp2 others(8): Show HG00738.hp2 HG01167.hp1 HG01175.hp2 HG01361.hp2 HG02004.hp2 HG03225.hp2 HG03654.hp2 HG04115.hp2 NA18944.hp2 NA18995.hp1 NA19007.hp2	a0001 a0013 a0018 others(1): Show a0001 a0013 a0018 a0021	a0001c0001 a0001c0002 a0001c0019 others(3): Show a0001c0001 a0001c0002 a0001c0019 a0013c0018 a0018c0048 a0021c0044	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0002t0004 a0001c0019t0003 a0013c0018t0011 a0018c0048t0021 a0021c0044t0001	a0001c0001t0002g0318 a0001c0001t0003g0073 a0001c0001t0003g0098 others(8): Show a0001c0001t0002g0318 a0001c0001t0003g0073 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0015g0332 a0001c0002t0004g0187 a0001c0019t0003g0090 a0013c0018t0011g0053 a0013c0018t0011g0054 a0018c0048t0021g0299 a0021c0044t0001g0126	11	416	0.0264	-34	c.201 others(51): Show c.2015-415_2015-382delGCGTGTATGTGTGTGTGGCGTGTATGTG TGTGTG		ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36					chr9	TogoVar
ELP3_chr8_28088139_28196153	28119572	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02922.hp1 HG03098.hp1 HG02572.hp1 HG02922.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0040 a0001c0001t0001g0234 a0001c0001t0001g0235	3	398	0.0075	-34	c.617 others(51): Show c.617+6423_617+6456delATATATATATATATATATATATATATAT ATATAT		ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	7/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
EMB_chr5_50391192_50446288	50417517	CAATGTGA others(27): Show CAATGTGATACAGCCTAAAACACACGTGCTTCCTG	C C	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	346	0.0029	-34	c.197 others(51): Show c.197-6168_197-6135delCAGGAAGCACGTGTGTTTTAGGCTGTAT CACATT		EMB	ENSG00000170571.12	transcript	ENST00000303221.10	protein_coding	2/8					chr5	TogoVar
EMCN_chr4_100390341_100523022	100459168	GCTCTCTC others(27): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp1 HG01255.hp2 others(13): Show HG00639.hp1 HG00673.hp1 HG01255.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02735.hp2 HG03017.hp2 HG03139.hp1 HG03486.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0033 a0001c0001t0034 others(2): Show a0001c0001t0006 a0001c0001t0033 a0001c0001t0034 a0002c0002t0006 a0002c0002t0037	a0001c0001t0006g0006 a0001c0001t0006g0128 a0001c0001t0006g0132 others(13): Show a0001c0001t0006g0006 a0001c0001t0006g0128 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0142 a0001c0001t0006g0143 a0001c0001t0006g0147 a0001c0001t0006g0149 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0157 a0001c0001t0033g0141 a0001c0001t0034g0140 a0002c0002t0006g0053 a0002c0002t0037g0123	16	262	0.0611	-34	c.376 others(51): Show c.376+6221_376+6254delAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAG		EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11					chr4	TogoVar
EML1_chr14_99788413_99947060	99943089	TGACAGCC others(27): Show TGACAGCCTGCTGCCGCCTGCCTCCAGGGCCTGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0114 a0001c0003t0001g0114	1	288	0.0035	-34	c.29 others(45): Show c.2978_*3011delGACAGCCTGCTGCCGCCTGCCTCCAGGGCCTGGG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding				1030		chr14	TogoVar
EML5_chr14_88607431_88797953	88796787	TTATATAT others(27): Show TTATATATATTATATATTATATACATTATATGTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG03453.hp2 HG02451.hp1 HG02723.hp1 HG03453.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0015 a0003c0005t0015	a0003c0005t0015g0013 a0003c0005t0015g0014 a0003c0005t0015g0015 a0003c0005t0015g0013 a0003c0005t0015g0014 a0003c0005t0015g0015	3	332	0.0090	-34	c.-43 others(45): Show c.-4318_-4285delTAACATATAATGTATATAATATATAATATATATA		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding				3835		chr14	TogoVar
ENAH_chr1_225481829_225658123	225560883	GAAAATAT others(27): Show GAAAATATTACTAGGATCAAAATTACATAAACTAC	G G	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0289 a0001c0001t0003g0289	1	308	0.0033	-34	c.172 others(51): Show c.172-5834_172-5801delGTAGTTTATGTAATTTTGATCCTAGTAA TATTTT		ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	2/13					chr1	TogoVar
ENPP1_chr6_131803020_131900155	131896227	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0069 a0002c0002t0069	a0002c0002t0069g0155 a0002c0002t0069g0155	1	292	0.0034	-34	c.57 others(45): Show c.5717_*5750delACACACACACACACACACACACACACACACACAC		ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding				1073		chr6	TogoVar
ENTREP1_chr9_69320215_69397456	69329805	AGTTAACG others(27): Show AGTTAACGAGATTCCACTGGGGTATGGGCGTTAAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp2 HG02886.hp1 others(7): Show HG02055.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03209.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0001g0227 a0001c0001t0001g0228 others(6): Show a0001c0001t0001g0016 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0002g0234	10	342	0.0292	-34	c.414 others(51): Show c.414+4089_414+4122delGAGATTCCACTGGGGTATGGGCGTTAAT GTTAAC		ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	1/10				INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69329941	TTAGATTC others(27): Show TTAGATTCCACTGGGGTATGGGAGTTAATGTTAAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19065.hp2 NA19067.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0009 a0001c0001 a0001c0003 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0003t0001 a0005c0009t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(209): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0284 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0298 a0001c0001t0002g0308 a0001c0001t0002g0312 a0001c0001t0006g0126 a0001c0001t0007g0181 a0001c0001t0008g0101 a0001c0003t0001g0317 a0001c0003t0001g0318 a0005c0009t0001g0110	223	342	0.6521	-34	c.414 others(51): Show c.414+4246_414+4279delTGTTAACTAGATTCCACTGGGGTATGGG AGTTAA		ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	1/10				INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29219610	CATAAATA others(27): Show CATAAATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03486.hp2 HG02258.hp2 HG03486.hp2	a0002 a0003 a0002 a0003	a0002c0004 a0003c0023 a0002c0004 a0003c0023	a0002c0004t0015 a0003c0023t0022 a0002c0004t0015 a0003c0023t0022	a0002c0004t0015g0007 a0003c0023t0022g0030 a0002c0004t0015g0007 a0003c0023t0022g0030	2	125	0.0160	-34	c.388 others(53): Show c.388-23080_388-23047delATATATATATATATATATATATATAT ATATTTAT		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	3/10					chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29466472	AGGGGAGG others(27): Show AGGGGAGGGTCCAGGGGAGGATGCTGCAGCCCCCT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp1 HG03130.hp1 HG02258.hp2 HG02809.hp1 HG03130.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0002c0009 a0003c0023 a0002c0005 a0002c0009 a0003c0023	a0002c0005t0020 a0002c0009t0015 a0003c0023t0022 a0002c0005t0020 a0002c0009t0015 a0003c0023t0022	a0002c0005t0020g0028 a0002c0009t0015g0029 a0003c0023t0022g0030 a0002c0005t0020g0028 a0002c0009t0015g0029 a0003c0023t0022g0030	3	125	0.0240	-34	c.220 others(53): Show c.220-84675_220-84642delAGGGGGCTGCAGCATCCTCCCCTGGA CCCTCCCC		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10					chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29466611	TAGGGCCC others(27): Show TAGGGCCCAGGGGAGGATGCTGCAGCCCCCAGGGG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	125	0.0080	-34	c.220 others(53): Show c.220-84814_220-84781delCCCCTGGGGGCTGCAGCATCCTCCCC TGGGCCCT		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10					chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29466745	GGAGGGCC others(27): Show GGAGGGCCCAGGAGAGGACGCTGCAGCCCCCAGGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0048 a0002c0004t0003g0048	1	125	0.0080	-34	c.220 others(53): Show c.220-84948_220-84915delTCCTGGGGGCTGCAGCGTCCTCTCCT GGGCCCTC		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10					chr15	TogoVar
EP300_chr22_41087592_41185077	41167572	GTGTGTGT others(27): Show GTGTGTGTGTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02056.hp1 HG02129.hp2 others(5): Show HG00609.hp2 HG02056.hp1 HG02129.hp2 HG02523.hp1 HG04184.hp1 NA18612.hp1 NA18959.hp2 NA19080.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0018 a0005c0019 a0001c0002 a0001c0018 a0005c0019	a0001c0002t0006 a0001c0002t0021 a0001c0002t0028 others(4): Show a0001c0002t0006 a0001c0002t0021 a0001c0002t0028 a0001c0002t0029 a0001c0002t0055 a0001c0018t0052 a0005c0019t0006	a0001c0002t0006g0062 a0001c0002t0006g0084 a0001c0002t0021g0300 others(5): Show a0001c0002t0006g0062 a0001c0002t0006g0084 a0001c0002t0021g0300 a0001c0002t0028g0128 a0001c0002t0029g0124 a0001c0002t0055g0299 a0001c0018t0052g0123 a0005c0019t0006g0297	8	300	0.0267	-34	c.387 others(51): Show c.3875-875_3875-842delGTGTGTGTGTGTATATATATATATATAT ATATAT		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30				INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167576	GTGTGTGT others(27): Show GTGTGTGTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0142 a0002c0003t0001g0142	1	300	0.0033	-34	c.387 others(51): Show c.3875-871_3875-838delGTGTGTGTATATATATATATATATATAT ATATAT		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30				INFO_REALIGN_3_PRIME	chr22	TogoVar
EPCAM_chr2_47364311_47392020	47365506	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 NA18994.hp1 NA18995.hp2 others(1): Show HG03225.hp2 NA18994.hp1 NA18995.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0187 a0001c0001t0001g0198 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0001t0001g0327	4	450	0.0089	-34	c.-39 others(45): Show c.-3999_-3966delTATATATATATATATATATATATATATATTTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding				3804		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365508	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	450	0.0022	-34	c.-39 others(45): Show c.-3997_-3964delTATATATATATATATATATATATATATTTTTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding				3802		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365510	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01081.hp2 HG01255.hp1 others(14): Show HG01071.hp2 HG01081.hp2 HG01255.hp1 HG01261.hp1 HG01433.hp1 HG01981.hp2 HG02109.hp2 HG02698.hp1 HG02738.hp1 HG02922.hp1 HG03130.hp1 HG03490.hp1 HG03492.hp2 NA18992.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0116 a0001c0001t0001g0202 a0001c0001t0001g0203 others(14): Show a0001c0001t0001g0116 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0360 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0217 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0005g0181 a0001c0001t0005g0201 a0001c0001t0005g0207	17	450	0.0378	-34	c.-39 others(45): Show c.-3995_-3962delTATATATATATATATATATATATATTTTTTTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding				3800		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365512	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02622.hp2 HG02647.hp2 HG02055.hp2 HG02622.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0317 a0001c0001t0001g0045 a0001c0001t0001g0317	3	450	0.0067	-34	c.-39 others(45): Show c.-3993_-3960delTATATATATATATATATATATATTTTTTTTTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding				3798		chr2	TogoVar

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