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	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ELP1_chr9_108862517_108939124	108900875	CCACACAC others(29): Show CCACACACACATACACGCCACACACACATACACGCCA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18940.hp1 NA18977.hp1 others(4): Show HG02132.hp1 NA18940.hp1 NA18977.hp1 NA18997.hp2 NA18999.hp1 NA19003.hp1 NA19055.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0103 a0002c0003t0007g0108 a0002c0003t0007g0114 others(4): Show a0002c0003t0007g0103 a0002c0003t0007g0108 a0002c0003t0007g0114 a0002c0003t0007g0115 a0002c0003t0007g0119 a0002c0003t0007g0132 a0002c0003t0007g0133	7	416	0.0168	-36	c.201 others(53): Show c.2014+514_2015-501delTGGCGTGTATGTGTGTGTGGCGTGTATG TGTGTGTG		ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36						chr9	TogoVar
ELP3_chr8_28088139_28196153	28119572	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	398	0.0025	-36	c.617 others(53): Show c.617+6421_617+6456delATATATATATATATATATATATATATAT ATATATAT		ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
ELSPBP1_chr19_47989632_48030154	48016456	TTTTCTTT others(29): Show TTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02818.hp1 HG02080.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0317 a0001c0001t0002g0203 a0001c0001t0001g0317 a0001c0001t0002g0203	2	388	0.0052	-36	c.355 others(51): Show c.355+426_355+461delCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016511	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG01256.hp2 others(1): Show HG00544.hp1 HG00642.hp1 HG01256.hp2 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0103 a0003c0003t0001g0294 a0003c0003t0001g0383 others(1): Show a0003c0003t0001g0103 a0003c0003t0001g0294 a0003c0003t0001g0383 a0003c0003t0001g0384	4	388	0.0103	-36	c.355 others(51): Show c.355+476_355+511delTCTTTCTTTCTTTCTTCCTTCCTTCCTTCC TTCCTT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016515	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0002 a0006c0006t0001g0002	1	388	0.0026	-36	c.355 others(51): Show c.355+480_355+515delTCTTTCTTTCTTCCTTCCTTCCTTCCTTCC TTCCTT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48025650	TCTCCACC others(29): Show TCTCCACCTCCTTCTCCTCCTCCCTCTCCTTCTCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01255.hp1 HG01884.hp2 others(18): Show HG00738.hp1 HG01255.hp1 HG01884.hp2 HG01891.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG03098.hp2 HG03130.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0014	a0001c0001 a0002c0002 a0003c0007 others(3): Show a0001c0001 a0002c0002 a0003c0007 a0005c0005 a0007c0008 a0014c0017	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0003c0007t0001 a0005c0005t0003 a0005c0005t0004 a0007c0008t0003 a0014c0017t0003 a0014c0017t0004	a0001c0001t0001g0359 a0002c0002t0001g0003 a0002c0002t0001g0004 others(18): Show a0001c0001t0001g0359 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0101 a0002c0002t0003g0098 a0003c0007t0001g0378 a0005c0005t0003g0009 a0005c0005t0003g0010 a0005c0005t0003g0017 a0005c0005t0003g0283 a0005c0005t0003g0333 a0005c0005t0003g0344 a0005c0005t0004g0122 a0005c0005t0004g0123 a0005c0005t0004g0127 a0005c0005t0004g0129 a0005c0005t0004g0135 a0007c0008t0003g0322 a0007c0008t0003g0374 a0014c0017t0003g0026 a0014c0017t0004g0124	21	388	0.0541	-36	c.70 others(45): Show c.707_*742delCTCCACCTCCTTCTCCTCCTCCCTCTCCTTCTCCTC		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding					497		chr19	TogoVar
EML6_chr2_54718662_54977025	54907930	AGATAGAT others(29): Show AGATAGATAGATAGATAAGATAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01952.hp2 NA18952.hp1 others(1): Show HG01257.hp2 HG01952.hp2 NA18952.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0190 a0001c0001t0002g0189 a0001c0003t0002g0155 others(1): Show a0001c0001t0001g0190 a0001c0001t0002g0189 a0001c0003t0002g0155 a0001c0003t0002g0255	4	264	0.0152	-36	c.341 others(55): Show c.3410-3023_3410-2988delGATAGATAGATAGATAAGATAGATAG ATAGATAGAT		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41						chr2	TogoVar
EMP3_chr19_48320552_48335553	48334416	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	376	0.0027	-36	c.39 others(47): Show c.3947_*3982delTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT		EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding					3864		chr19	TogoVar
EMSY_chr11_76440018_76558031	76494649	CCCTTCCT others(29): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01433.hp1 HG01993.hp2 others(6): Show HG00544.hp1 HG01433.hp1 HG01993.hp2 HG02559.hp2 HG02630.hp1 HG02818.hp1 HG03540.hp2 HG03688.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0003t0001	a0001c0001t0002g0089 a0001c0001t0002g0214 a0001c0001t0002g0264 others(6): Show a0001c0001t0002g0089 a0001c0001t0002g0214 a0001c0001t0002g0264 a0001c0001t0003g0191 a0001c0001t0003g0223 a0001c0001t0003g0285 a0001c0001t0012g0216 a0001c0003t0001g0248 a0001c0003t0001g0252	9	360	0.0250	-36	c.115 others(55): Show c.1154-1513_1154-1478delCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT		EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr11	TogoVar
ENAH_chr1_225481829_225658123	225519331	ATCCAGGC others(29): Show ATCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18946.hp1 NA18946.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0013 a0005c0012t0013	a0005c0012t0013g0034 a0005c0012t0013g0034	1	308	0.0033	-36	c.633 others(43): Show c.633_668delGCGGCAGGAACGCCTGGAGCGGCAGGAACGCCTGGA	p.Glu others(13): Show p.Glu211_Leu222del	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	5/14	1101/13092	633/1713	211/570			chr1	TogoVar
ENKUR_chr10_24976985_25021158	24988664	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01433.hp1 HG01496.hp2 HG01255.hp1 HG01433.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0226 a0001c0001t0001g0053 a0001c0001t0001g0226	3	384	0.0078	-36	c.594 others(53): Show c.594+1763_594+1798delTATATATATATATATATATATATATATA TATATATA		ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	4/5						chr10	TogoVar
ENOSF1_chr18_665318_717630	666927	TGATGGTG others(29): Show TGATGGTGATGGAGATGGTGATGGTGATGGAGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 NA18965.hp2 HG02055.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0016 a0001c0003t0001 a0001c0001t0016 a0001c0003t0001	a0001c0001t0016g0265 a0001c0003t0001g0214 a0001c0001t0016g0265 a0001c0003t0001g0214	2	418	0.0048	-36	c.73 others(47): Show c.7342_*7377delTCCATCTCCATCACCATCACCATCTCCATCACCA TC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3390		chr18	TogoVar
ENOSF1_chr18_665318_717630	666957	AGATGGAG others(29): Show AGATGGAGATGGTGATGGAGATGGAGATGGTGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02300.hp2 HG02293.hp1 HG02300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0187 a0002c0002t0002g0231 a0001c0001t0002g0187 a0002c0002t0002g0231	2	418	0.0048	-36	c.73 others(47): Show c.7312_*7347delACCATCACCATCTCCATCTCCATCACCATCTCCA TC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3360		chr18	TogoVar
ENOSF1_chr18_665318_717630	712349	GCCGCGCG others(29): Show GCCGCGCGTACCATGGCGTCCGCGCTTACCATGGCGT	G G	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0319 a0002c0002t0002g0319	1	418	0.0024	-36	c.84+ others(49): Show c.84+119_84+154delACGCCATGGTAAGCGCGGACGCCATGGTACGC GCGG		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	1/15						chr18	TogoVar
ENOSF1_chr18_665318_717630	712356	GTACCATG others(29): Show GTACCATGGCGTCCGCGCTTACCATGGCGTCCGCGCT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG01261.hp1 others(18): Show HG00280.hp2 HG00597.hp2 HG01261.hp1 HG01346.hp1 HG01975.hp2 HG02109.hp2 HG02257.hp2 HG02572.hp1 HG02615.hp2 HG02886.hp2 HG02896.hp1 HG02970.hp2 HG03017.hp2 HG03491.hp2 HG03834.hp1 HG04228.hp1 HG04228.hp2 NA18995.hp1 NA19005.hp1 NA19012.hp2 NA19087.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0017 a0003c0011	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0038 a0001c0003t0001 a0001c0006t0004 a0001c0017t0001 a0003c0011t0001	a0001c0001t0001g0010 a0001c0001t0001g0322 a0001c0001t0001g0323 others(17): Show a0001c0001t0001g0010 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0006g0336 a0001c0001t0007g0321 a0001c0001t0038g0335 a0001c0003t0001g0330 a0001c0003t0001g0332 a0001c0006t0004g0320 a0001c0017t0001g0344 a0003c0011t0001g0402	21	418	0.0502	-36	c.84+ others(49): Show c.84+112_84+147delAGCGCGGACGCCATGGTAAGCGCGGACGCCAT GGTA		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	1/15						chr18	TogoVar
ENOX1_chr13_43208130_43791972	43790583	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02280.hp1 others(3): Show HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02622.hp2 NA18522.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0011 a0001c0001 a0001c0005 a0003c0011	a0001c0001t0003 a0001c0001t0004 a0001c0001t0025 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0025 a0001c0005t0003 a0003c0011t0004	a0001c0001t0003g0123 a0001c0001t0004g0124 a0001c0001t0004g0126 others(3): Show a0001c0001t0003g0123 a0001c0001t0004g0124 a0001c0001t0004g0126 a0001c0001t0025g0125 a0001c0005t0003g0120 a0003c0011t0004g0119	6	188	0.0319	-36	c.-42 others(47): Show c.-4252_-4217delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding					3612		chr13	TogoVar
ENPP3_chr6_131632302_131752410	131678930	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0175	1	278	0.0036	-36	c.101 others(54): Show c.1011+994_1011+1029delTTTCTTTCTTTCTTTCTTTCTTTCTTT CCTTCCTTC		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131678934	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0094 a0011c0015t0001g0094	1	278	0.0036	-36	c.101 others(54): Show c.1011+998_1011+1033delTTTCTTTCTTTCTTTCTTTCTTTCCTT CCTTCCTTC		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131717349	GGGGTGTG others(29): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp1 HG01891.hp1 HG02622.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0007 a0001c0002 a0005c0007	a0001c0002t0002 a0005c0007t0002 a0001c0002t0002 a0005c0007t0002	a0001c0002t0002g0007 a0005c0007t0002g0275 a0001c0002t0002g0007 a0005c0007t0002g0275	2	278	0.0072	-36	c.141 others(55): Show c.1413-1321_1413-1286delGGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTG		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	15/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENTPD8_chr9_137429364_137446357	137440928	CCCCCCCA others(29): Show CCCCCCCAGACCAGGACACCCCCTCAGACAGAACAGT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	392	0.0026	-36	c.-21 others(51): Show c.-21+322_-21+357delACTGTTCTGTCTGAGGGGGTGTCCTGGTCT GGGGGG		ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9						chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29219610	CATAAATA others(29): Show CATAAATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00558.hp2 others(20): Show HG00099.hp2 HG00423.hp1 HG00558.hp2 HG00642.hp2 HG00741.hp1 HG01081.hp1 HG01167.hp2 HG01257.hp2 HG01496.hp2 HG02145.hp2 HG02155.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03834.hp1 NA18955.hp2 NA18962.hp2 NA18983.hp2 NA18990.hp1 NA19009.hp1 NA19065.hp1 NA19065.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0002 a0001c0010 others(7): Show a0001c0001 a0001c0002 a0001c0010 a0001c0039 a0002c0015 a0003c0014 a0004c0013 a0004c0020 a0004c0032 a0008c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0045 a0001c0002t0016 a0001c0010t0004 a0001c0039t0038 a0002c0015t0012 a0003c0014t0051 a0004c0013t0001 a0004c0013t0024 a0004c0020t0008 a0004c0020t0033 a0004c0032t0014 a0008c0040t0012	a0001c0001t0001g0042 a0001c0001t0001g0069 a0001c0001t0001g0078 others(20): Show a0001c0001t0001g0042 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0002g0099 a0001c0001t0004g0022 a0001c0001t0004g0024 a0001c0001t0004g0026 a0001c0001t0045g0034 a0001c0002t0016g0012 a0001c0010t0004g0018 a0001c0039t0038g0049 a0002c0015t0012g0008 a0003c0014t0051g0124 a0004c0013t0001g0114 a0004c0013t0001g0118 a0004c0013t0024g0010 a0004c0020t0008g0009 a0004c0020t0033g0071 a0004c0032t0014g0021 a0008c0040t0012g0025	23	125	0.1840	-36	c.388 others(55): Show c.388-23082_388-23047delATATATATATATATATATATATATAT ATATATTTAT		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	3/10						chr15	TogoVar
EP300_chr22_41087592_41185077	41167572	GTGTGTGT others(29): Show GTGTGTGTGTGTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG03017.hp1 others(5): Show HG00140.hp1 HG00323.hp2 HG03017.hp1 NA18747.hp1 NA18947.hp1 NA18955.hp2 NA18985.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0009 a0001c0002t0021 others(5): Show a0001c0002t0006 a0001c0002t0009 a0001c0002t0021 a0001c0002t0030 a0001c0002t0048 a0001c0002t0054 a0001c0002t0062 a0001c0002t0064	a0001c0002t0006g0082 a0001c0002t0009g0127 a0001c0002t0021g0052 others(5): Show a0001c0002t0006g0082 a0001c0002t0009g0127 a0001c0002t0021g0052 a0001c0002t0030g0060 a0001c0002t0048g0120 a0001c0002t0054g0088 a0001c0002t0062g0071 a0001c0002t0064g0053	8	300	0.0267	-36	c.387 others(53): Show c.3875-875_3875-840delGTGTGTGTGTGTATATATATATATATAT ATATATAT		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30					INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167578	GTGTGTGT others(29): Show GTGTGTGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0007 a0004c0020t0007	a0004c0020t0007g0186 a0004c0020t0007g0186	1	300	0.0033	-36	c.387 others(53): Show c.3875-869_3875-834delGTGTGTATATATATATATATATATATAT ATATATAT		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30					INFO_REALIGN_3_PRIME	chr22	TogoVar
EPAS1_chr2_46292407_46391697	46362953	AGTGGTGG others(29): Show AGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03688.hp2 HG02735.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0066 a0001c0001t0001g0067	2	326	0.0061	-36	c.779 others(53): Show c.779+1887_779+1922delAGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGT		EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365504	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	450	0.0022	-36	c.-40 others(47): Show c.-4001_-3966delTATATATATATATATATATATATATATATATTTT TT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding					3806		chr2	TogoVar
EPHA3_chr3_89102621_89487134	89211725	TTTCTTCT others(29): Show TTTCTTCTTCTTCTTCTCCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01515.hp1 HG01516.hp1 others(11): Show HG01106.hp1 HG01515.hp1 HG01516.hp1 HG01981.hp2 HG02083.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02970.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp2 NA18960.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0003 a0002c0005 others(2): Show a0001c0001 a0002c0003 a0002c0005 a0003c0004 a0004c0007	a0001c0001t0001 a0002c0003t0002 a0002c0003t0011 others(3): Show a0001c0001t0001 a0002c0003t0002 a0002c0003t0011 a0002c0005t0005 a0003c0004t0002 a0004c0007t0005	a0001c0001t0001g0055 a0001c0001t0001g0189 a0001c0001t0001g0198 others(11): Show a0001c0001t0001g0055 a0001c0001t0001g0189 a0001c0001t0001g0198 a0002c0003t0002g0008 a0002c0003t0011g0020 a0002c0005t0005g0081 a0002c0005t0005g0082 a0002c0005t0005g0083 a0002c0005t0005g0084 a0002c0005t0005g0090 a0002c0005t0005g0091 a0003c0004t0002g0196 a0003c0004t0002g0197 a0004c0007t0005g0003	14	200	0.0700	-36	c.814 others(53): Show c.814+1222_814+1257delCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCT		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA4_chr2_221413027_221577304	221566921	AGAAGGAG others(29): Show AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02976.hp1 HG00280.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0245 a0001c0001t0001g0220 a0001c0001t0001g0245	2	294	0.0068	-36	c.159 others(53): Show c.159+1761_159+1796delCCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTC		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHA5_chr4_65314567_65675489	65576038	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19083.hp1 HG00621.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0036 a0001c0002t0001g0034 a0001c0001t0006g0036 a0001c0002t0001g0034	2	234	0.0086	-36	c.910 others(55): Show c.910+25567_910+25602delTCTTTTCTTTTCTTTTCTTTCTTTCT TTCTTTCTTT		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16						chr4	TogoVar
EPHA8_chr1_22558489_22608595	22606486	TCAGAGTG others(29): Show TCAGAGTGGGACACCACCAGTGTTTTCCACCATGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0168 a0001c0001t0010g0168	1	342	0.0029	-36	c.47 others(47): Show c.4746_*4781delCAGAGTGGGACACCACCAGTGTTTTCCACCATGT CC		EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding					2892		chr1	TogoVar
EPHB1_chr3_134790260_135265467	134882739	CTTCTTTC others(29): Show CTTCTTTCTTCCTTTCTTCCTTCCTTCCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0022	a0001c0006t0022g0019 a0001c0006t0022g0019	1	134	0.0075	-36	c.59- others(53): Show c.59-43067_59-43032delCCTTTCTTCCTTCCTTCCTTTCTTTCTT TCTTTCTT		EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPS15L1_chr19_16350247_16476970	16408454	TAAAATAC others(29): Show TAAAATACAAATTTGTAAAAATACAAATTTTTACAAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02148.hp2 HG02273.hp1 HG02300.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp2 HG03516.hp1 HG03579.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0230	19	276	0.0688	-36	c.126 others(55): Show c.1267-3741_1267-3706delTTTGTAAAAATTTGTATTTTTACAAA TTTGTATTTT		EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	13/23						chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55078792	TCAGAGGG others(29): Show TCAGAGGGAAGAGGGGCTGGGGGCCTGGACTCCTGGG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	340	0.0029	-36	c.59- others(49): Show c.59-206_59-171delCAGAGGGAAGAGGGGCTGGGGGCCTGGACTCC TGGG		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19						chr19	TogoVar
EPS8L2_chr11_701231_732727	712320	ACGAGCTG others(29): Show ACGAGCTGGGCTCCCGGTTGTGGTCCAAGCCTGGGTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG01243.hp2 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0033 a0001c0003t0003g0034	2	406	0.0049	-36	c.165 others(53): Show c.165+1891_165+1926delGGTCCAAGCCTGGGTGCGAGCTGGGCTC CCGGTTGT		EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
EPS8L2_chr11_701231_732727	712377	GGTCCAAG others(29): Show GGTCCAAGCCTGGGTGCGAGCTGGGCTCCCGGTTGTC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(47): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01109.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02698.hp1 HG02738.hp1 HG03491.hp1 HG03654.hp1 HG03710.hp2 HG03834.hp2 HG04204.hp2 NA18947.hp1 NA18960.hp2 NA18961.hp2 NA18973.hp2 NA18981.hp1 NA18985.hp1 NA18985.hp2 NA18994.hp1 NA18997.hp2 NA19005.hp2 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19086.hp1 NA19087.hp1 NA19091.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0004t0005 a0001c0005t0001 a0001c0005t0003	a0001c0001t0001g0023 a0001c0001t0001g0108 a0001c0001t0001g0150 others(45): Show a0001c0001t0001g0023 a0001c0001t0001g0108 a0001c0001t0001g0150 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0274 a0001c0001t0001g0353 a0001c0001t0003g0086 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0004g0014 a0001c0001t0006g0216 a0001c0001t0006g0233 a0001c0001t0006g0266 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0240 a0001c0003t0001g0241 a0001c0003t0003g0102 a0001c0003t0003g0104 a0001c0004t0005g0097 a0001c0005t0001g0168 a0001c0005t0001g0236 a0001c0005t0003g0085	50	406	0.1232	-36	c.165 others(53): Show c.165+1990_165+2025delCCCGGTTGTCGTCCAAGCCTGGGTGCGA GCTGGGCT		EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
ERBB4_chr2_211370717_212543802	212015041	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp2 HG02895.hp1 others(2): Show HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0019 a0001c0001t0003 a0001c0001t0007 a0001c0001t0019	a0001c0001t0003g0017 a0001c0001t0003g0040 a0001c0001t0003g0050 others(2): Show a0001c0001t0003g0017 a0001c0001t0003g0040 a0001c0001t0003g0050 a0001c0001t0007g0043 a0001c0001t0019g0002	5	56	0.0893	-36	c.235 others(55): Show c.235-67461_235-67426delATATATATATATATATATATATATAT ATATATATAT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212192006	TAATATAT others(29): Show TAATATATGTTATATGTTATATATGTTATATGTTATA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp1 HG01891.hp2 others(9): Show HG01069.hp1 HG01243.hp1 HG01891.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG03225.hp1 HG03516.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0030 a0001c0004t0021	a0001c0001t0001g0045 a0001c0001t0003g0040 a0001c0001t0003g0049 others(9): Show a0001c0001t0001g0045 a0001c0001t0003g0040 a0001c0001t0003g0049 a0001c0001t0005g0035 a0001c0001t0007g0043 a0001c0001t0010g0022 a0001c0001t0011g0042 a0001c0001t0022g0006 a0001c0001t0023g0012 a0001c0001t0025g0051 a0001c0001t0030g0056 a0001c0004t0021g0009	12	56	0.2143	-36	c.83- others(53): Show c.83-67139_83-67104delTATAACATATAACATATATAACATATAA CATATATT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212446578	CATATATA others(29): Show CATATATATATATGTATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02615.hp2 HG02717.hp1 others(1): Show HG01496.hp1 HG02615.hp2 HG02717.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008	a0001c0001t0002g0024 a0001c0001t0004g0003 a0001c0001t0007g0018 others(1): Show a0001c0001t0002g0024 a0001c0001t0004g0003 a0001c0001t0007g0018 a0001c0001t0008g0004	4	56	0.0714	-36	c.82+ others(53): Show c.82+91835_82+91870delATATATATATATATATATATATACATAT ATATATAT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERC1_chr12_986223_1500931	1196927	CACACACA others(29): Show CACACACACACACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0150 a0001c0001t0040g0150	1	162	0.0062	-36	c.235 others(55): Show c.2351+6877_2351+6912delCACACACACACACACACACACACACA CACACACATA		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1440600	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02723.hp1 HG01346.hp1 HG02723.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0040 a0002c0002t0102 a0001c0001t0040 a0002c0002t0102	a0001c0001t0040g0150 a0002c0002t0102g0055 a0001c0001t0040g0150 a0002c0002t0102g0055	2	162	0.0124	-36	c.302 others(55): Show c.3025-3929_3025-3894delTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTG		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55583511	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	74	0.0135	-36	c.40 others(55): Show c.40-72271_*40-72236delAAGAAAGGAAGGAAGGAAGGAAGGGA GGGAGGGAGG		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55720114	CCTCCTCC others(29): Show CCTCCTCCTTCTTCTTCCTCTTCTTCTTCCTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	74	0.0135	-36	c.271 others(57): Show c.2712+14621_2712+14656delAAGAAGAGGAAGAAGAAGAGGAAG AAGAAGGAGGAG		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55720131	CTCTTCTT others(29): Show CTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03195.hp1 HG02040.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0032 a0001c0002t0001g0014 a0001c0001t0002g0032 a0001c0002t0001g0014	2	74	0.0270	-36	c.271 others(57): Show c.2712+14604_2712+14639delAGAAGAAGAAGAAGAAGAAGAAGA GGAAGAAGAAGA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	56348931	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	74	0.0135	-36	c.658 others(55): Show c.658-52532_658-52497delTTTCTTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTC		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17						chr3	TogoVar
ERCC2_chr19_45344837_45375573	45345145	GGGAGCTC others(29): Show GGGAGCTCTGGGCCAGGGGATCCAAGGGCCTTGGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0133 a0001c0001t0025g0133	1	412	0.0024	-36	c.64 others(47): Show c.6448_*6483delACCCCAAGGCCCTTGGATCCCCTGGCCCAGAGCT CC		ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding					4691		chr19	TogoVar
ERCC6_chr10_49449470_49544121	49526085	TTATATTT others(29): Show TTATATTTATATATTTATATATTTATATATTTTTATA	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0071 a0002c0007t0004g0071	1	388	0.0026	-36	c.653 others(53): Show c.653-1344_653-1309delTATAAAAATATATAAATATATAAATATA TAAATATA		ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20						chr10	TogoVar
ERCC6_chr10_49449470_49544121	49526099	TTATATAT others(29): Show TTATATATTTATATATTTTTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0128 a0005c0008t0001g0128	1	388	0.0026	-36	c.653 others(53): Show c.653-1358_653-1323delTATATATATATATATATAAAAATATATA AATATATA		ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20						chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526085	TTATATTT others(29): Show TTATATTTATATATTTATATATTTATATATTTTTATA	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0072 a0002c0006t0002g0072	1	402	0.0025	-36	c.653 others(53): Show c.653-1344_653-1309delTATAAAAATATATAAATATATAAATATA TAAATATA		ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5						chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526099	TTATATAT others(29): Show TTATATATTTATATATTTTTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	402	0.0025	-36	c.653 others(53): Show c.653-1358_653-1323delTATATATATATATATATAAAAATATATA AATATATA		ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5						chr10	TogoVar
ERCC8_chr5_60861454_60950070	60904632	GTGTATAT others(29): Show GTGTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02818.hp1 others(4): Show HG02622.hp2 HG02647.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0085 a0001c0001t0012 a0001c0001t0085	a0001c0001t0012g0181 a0001c0001t0012g0182 a0001c0001t0012g0183 others(4): Show a0001c0001t0012g0181 a0001c0001t0012g0182 a0001c0001t0012g0183 a0001c0001t0012g0184 a0001c0001t0012g0185 a0001c0001t0012g0186 a0001c0001t0085g0180	7	302	0.0232	-36	c.481 others(51): Show c.481+124_481+159delTATATATATATATATATATATATATATATA TATACA		ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	5/11						chr5	TogoVar
ERCC8_chr5_60861454_60950070	60904634	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0265 a0001c0001t0029g0265	1	302	0.0033	-36	c.481 others(51): Show c.481+122_481+157delTATATATATATATATATATATATATATATA TATATA		ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	5/11						chr5	TogoVar

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