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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⚠️ 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
EPHA5_chr4_65314567_65675489	65574709	C C	CATATATA others(21): Show CATATATATATACATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0150 a0001c0002t0010g0150	1	234	0.0043	28	c.910 others(47): Show c.910+26904_910+26931dupATATATGTATATATATGTATATATAT AT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA6_chr3_96809594_97766532	96994732	T T	TAGAGAGA others(21): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp2 HG02922.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0003t0018 a0001c0001t0009 a0001c0003t0018	a0001c0001t0009g0019 a0001c0003t0018g0020 a0001c0001t0009g0019 a0001c0003t0018g0020	2	82	0.0244	28	c.111 others(47): Show c.1114+6742_1114+6769dupAGAGAGAGAGAGAGAGAGAGAGAGAG AG	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	96994732	T T	TATATATA others(21): Show TATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03486.hp2 HG02886.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0022 a0001c0002t0001g0025	2	82	0.0244	28	c.111 others(47): Show c.1114+6740_1114+6741insTATATATATATATAGAGAGAGAGAGA GA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97000287	A A	ACACACAC others(21): Show ACACACACACACACACACATATATATAGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0012 a0001c0003t0003g0012	1	82	0.0122	28	c.111 others(49): Show c.1114+12300_1114+12301insCACACACACACATATATATAGCCA CACA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97001017	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01257.hp2 HG01258.hp1 others(4): Show HG00735.hp1 HG01257.hp2 HG01258.hp1 HG01952.hp1 HG02055.hp2 HG03139.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0017 a0001c0002t0026 others(3): Show a0001c0001t0001 a0001c0001t0017 a0001c0002t0026 a0001c0004t0002 a0001c0006t0002 a0001c0007t0002	a0001c0001t0001g0080 a0001c0001t0017g0081 a0001c0002t0026g0032 others(4): Show a0001c0001t0001g0080 a0001c0001t0017g0081 a0001c0002t0026g0032 a0001c0004t0002g0026 a0001c0004t0002g0027 a0001c0006t0002g0047 a0001c0007t0002g0033	7	82	0.0854	28	c.111 others(49): Show c.1114+13038_1114+13039insATATATATATATATATATATATAT ATAT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97085928	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02486.hp2 HG01256.hp1 HG01258.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0002t0001g0074 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0002t0001g0074	3	82	0.0366	28	c.111 others(49): Show c.1114+97956_1114+97957insTATATATATATATATATATATATA TATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97085951	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0048 a0001c0005t0004g0048	1	82	0.0122	28	c.111 others(49): Show c.1114+97958_1114+97959insTATATATATATATATATATATATA TATG	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17			chr3	TogoVar
EPHA6_chr3_96809594_97766532	97124469	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0021 a0001c0002t0001 a0001c0006t0021	a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0006t0021g0049 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0006t0021g0049	3	82	0.0366	28	c.111 others(51): Show c.1115-101789_1115-101762dupAAGAAAGAAAGAAAGAAAGAAA GAAAGA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97179717	G G	GTCTCTCT others(21): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	82	0.0122	28	c.111 others(49): Show c.1115-46530_1115-46503dupTCTCTCTCTCTCTCTCTCTCTCTC TCTC	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA8_chr1_22558489_22608595	22585050	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0090 a0002c0003t0002g0090	1	342	0.0029	28	c.824 others(45): Show c.824-1429_824-1428insTGTGTGTGTGTGTGTGTGTGTGTGCGCG	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA8_chr1_22558489_22608595	22599603	G G	GAGGGAGG others(21): Show GAGGGAGGGAGGGAGGAAGGAGGGAAGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA18995.hp2 HG00639.hp1 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0208 a0001c0002t0006g0215 a0001c0002t0006g0208 a0001c0002t0006g0215	2	342	0.0059	28	c.238 others(45): Show c.2388+574_2388+575insGAGGGAAGGAAGGGAGGGAGGGAGGAAG	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB1_chr3_134790260_135265467	134882765	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0014 a0001c0003t0002g0014	1	134	0.0075	28	c.59- others(45): Show c.59-43018_59-42991dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135076260	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0129 a0001c0005t0013g0130 a0001c0005t0013g0129 a0001c0005t0013g0130	2	134	0.0149	28	c.806 others(47): Show c.806-30187_806-30186insTATATATATATATATATATATATATA AA	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135076261	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0022 a0001c0004t0001g0022	1	134	0.0075	28	c.806 others(47): Show c.806-30187_806-30186insTATATATATATATATATATATATATA TG	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15			chr3	TogoVar
EPHB1_chr3_134790260_135265467	135183026	T T	TTTTCTTT others(21): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0113 a0001c0003t0004g0113	1	134	0.0075	28	c.188 others(47): Show c.1882+3051_1882+3052insTCTTTTCTTTTCTTTTCTTTCTTTCT TT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB4_chr7_100797565_100832523	100799251	T T	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	364	0.0028	28	c.42 others(39): Show c.4209_*4210insGGAAGGAAGGAAGGAAGGAAGGAAGGAA	EPHB4	ENSG00000196411.10	transcript	ENST00000358173.8	protein_coding		3313		chr7	TogoVar
EPHX4_chr1_92024985_92068538	92030483	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18612.hp1 HG03225.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0187 a0001c0001t0001g0188	2	236	0.0085	28	c.231 others(43): Show c.231+176_231+177insTGTGTGTGTGTGTGTGTGTGTGTGAGTG	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHX4_chr1_92024985_92068538	92030490	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03540.hp1 HG00140.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0201 a0001c0001t0002g0202	2	236	0.0085	28	c.231 others(43): Show c.231+180_231+181insTGTGTGTGTGTGTGTGTGTGTGTGTGTA	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6			chr1	TogoVar
EPHX4_chr1_92024985_92068538	92067488	C C	CTGACTGT others(21): Show CTGACTGTTCTATGCAATCCTGCTAACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01891.hp2 HG02055.hp1 others(19): Show HG01069.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02723.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp2 NA19043.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0024 others(18): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0172 a0001c0001t0001g0173	22	236	0.0932	28	c.42 others(39): Show c.4202_*4203insTGACTGTTCTATGCAATCCTGCTAACAT	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding		3951		chr1	TogoVar
EPN2_chr17_19232366_19341715	19276773	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0003 a0001c0001t0011g0003	1	282	0.0036	28	c.-29 others(47): Show c.-293-5164_-293-5163insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTGTT others(21): Show GTTTTGTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	282	0.0036	28	c.766 others(45): Show c.766+3938_766+3939insGTTTTTTTTTTTTTTTTTTTTTTTTTTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19318549	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG04199.hp2 HG01346.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0036 a0001c0001t0010g0043 a0001c0001t0002g0036 a0001c0001t0010g0043	2	282	0.0071	28	c.114 others(47): Show c.1147+5288_1147+5289insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPOR_chr19_11372207_11389314	11384667	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	404	0.0025	28	c.-48 others(37): Show c.-488_-461dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		354		chr19	TogoVar
EPPIN_chr20_45535626_45552401	45548669	T T	TCTTTTCT others(21): Show TCTTTTCTTTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02886.hp2 HG03041.hp2 others(1): Show HG02109.hp1 HG02886.hp2 HG03041.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0013 a0002c0002t0010g0013	4	438	0.0091	28	c.-13 others(39): Show c.-1313_-1312insGAAAAGAAAAGAAAAGAAAAAAGAAAAG	EPPIN	ENSG00000101448.14	transcript	ENST00000354280.9	protein_coding		1269		chr20	TogoVar
EPPK1_chr8_143852324_143883467	143855406	G G	GTATATCT others(21): Show GTATATCTATATATCTATATCTATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 NA18978.hp2 NA18994.hp1 others(2): Show HG02074.hp2 NA18978.hp2 NA18994.hp1 NA19005.hp2 NA19065.hp2	a0001 a0184 a0001 a0184	a0001c0001 a0001c0010 a0184c0238 a0001c0001 a0001c0010 a0184c0238	a0001c0001t0001 a0001c0010t0001 a0184c0238t0001 a0001c0001t0001 a0001c0010t0001 a0184c0238t0001	a0001c0001t0001g0001 a0001c0010t0001g0009 a0001c0010t0001g0117 others(1): Show a0001c0001t0001g0001 a0001c0010t0001g0009 a0001c0010t0001g0117 a0184c0238t0001g0258	5	424	0.0118	28	c.25 others(39): Show c.2580_*2581insGATATATAGATATAGATATATAGATATA	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding		1917		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143878395	C C	CCCGCACC others(21): Show CCCGCACCCGCCGCACCTGCCCGCACCCG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02109.hp2 HG02300.hp1 others(11): Show HG01361.hp1 HG02109.hp2 HG02300.hp1 HG02723.hp2 HG02976.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG04228.hp2 NA18522.hp2 NA19057.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2	a0002 a0017 a0071 others(9): Show a0002 a0017 a0071 a0110 a0111 a0112 a0114 a0133 a0157 a0191 a0198 a0224	a0002c0002 a0017c0012 a0071c0347 others(9): Show a0002c0002 a0017c0012 a0071c0347 a0110c0046 a0111c0047 a0112c0045 a0114c0173 a0133c0310 a0157c0278 a0191c0237 a0198c0248 a0224c0204	a0002c0002t0001 a0017c0012t0001 a0071c0347t0001 others(9): Show a0002c0002t0001 a0017c0012t0001 a0071c0347t0001 a0110c0046t0010 a0111c0047t0010 a0112c0045t0010 a0114c0173t0001 a0133c0310t0003 a0157c0278t0002 a0191c0237t0001 a0198c0248t0001 a0224c0204t0005	a0002c0002t0001g0074 a0002c0002t0001g0076 a0017c0012t0001g0065 others(11): Show a0002c0002t0001g0074 a0002c0002t0001g0076 a0017c0012t0001g0065 a0017c0012t0001g0066 a0071c0347t0001g0063 a0110c0046t0010g0071 a0111c0047t0010g0072 a0112c0045t0010g0070 a0114c0173t0001g0064 a0133c0310t0003g0075 a0157c0278t0002g0067 a0191c0237t0001g0068 a0198c0248t0001g0069 a0224c0204t0005g0073	14	424	0.0330	28	c.-46 others(41): Show c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGG	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(21): Show TATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02572.hp1 HG02965.hp2 others(5): Show HG02523.hp1 HG02572.hp1 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 NA19001.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0002 a0001c0018t0002 a0001c0001t0002 a0001c0018t0002	a0001c0001t0002g0012 a0001c0001t0002g0272 a0001c0001t0002g0313 others(5): Show a0001c0001t0002g0012 a0001c0001t0002g0272 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0018t0002g0020	8	358	0.0224	28	c.432 others(45): Show c.4323+273_4323+274insGTGTGTATATATATATATATATATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	220044681	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0350 a0001c0001t0002g0350	1	358	0.0028	28	c.46+ others(43): Show c.46+1634_46+1661dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	1/31			chr1	TogoVar
EPSTI1_chr13_42881388_42997241	42926026	T T	TGGAAGGA others(21): Show TGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03041.hp1 HG04204.hp2 others(5): Show HG02818.hp1 HG03041.hp1 HG04204.hp2 NA18957.hp2 NA18968.hp2 NA18987.hp1 NA18991.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0015 a0001c0001t0019 others(2): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0019 a0001c0002t0003 a0001c0002t0025	a0001c0001t0002g0184 a0001c0001t0002g0217 a0001c0001t0002g0237 others(5): Show a0001c0001t0002g0184 a0001c0001t0002g0217 a0001c0001t0002g0237 a0001c0001t0002g0316 a0001c0001t0015g0240 a0001c0001t0019g0351 a0001c0002t0003g0229 a0001c0002t0025g0230	8	352	0.0227	28	c.657 others(43): Show c.657+309_657+310insTTCCTTCCTTCCTTCCTTCCTTCCTTCC	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	7/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42926041	A A	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01123.hp2 others(44): Show HG00621.hp2 HG00735.hp1 HG01123.hp2 HG01192.hp2 HG01361.hp1 HG01934.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02129.hp1 HG02129.hp2 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG02922.hp1 HG02970.hp1 HG03209.hp2 HG03239.hp1 HG03491.hp1 HG03516.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG06807.hp1 NA18940.hp2 NA18945.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18954.hp2 NA18966.hp1 NA18983.hp2 NA19003.hp2 NA19030.hp1 NA19043.hp2 NA19064.hp2 NA19066.hp2 NA19074.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0011 a0001c0001 a0001c0002 a0008c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(19): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0030 a0001c0001t0056 a0001c0001t0059 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0027 a0008c0011t0001	a0001c0001t0002g0224 a0001c0001t0002g0278 a0001c0001t0002g0320 others(43): Show a0001c0001t0002g0224 a0001c0001t0002g0278 a0001c0001t0002g0320 a0001c0001t0004g0162 a0001c0001t0008g0007 a0001c0001t0009g0019 a0001c0001t0012g0182 a0001c0001t0012g0249 a0001c0001t0012g0308 a0001c0001t0014g0259 a0001c0001t0014g0273 a0001c0001t0014g0274 a0001c0001t0014g0298 a0001c0001t0015g0270 a0001c0001t0015g0303 a0001c0001t0015g0304 a0001c0001t0015g0332 a0001c0001t0017g0113 a0001c0001t0018g0018 a0001c0001t0019g0309 a0001c0001t0030g0133 a0001c0001t0056g0328 a0001c0001t0059g0305 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0003g0269 a0001c0002t0003g0275 a0001c0002t0003g0277 a0001c0002t0003g0314 a0001c0002t0003g0323 a0001c0002t0003g0338 a0001c0002t0005g0134 a0001c0002t0005g0181 a0001c0002t0006g0188 a0001c0002t0006g0326 a0001c0002t0007g0001 a0001c0002t0007g0225 a0001c0002t0007g0276 a0001c0002t0007g0327 a0001c0002t0010g0193 a0001c0002t0010g0261 a0001c0002t0010g0268 a0001c0002t0010g0331 a0001c0002t0011g0016 a0001c0002t0027g0137 a0008c0011t0001g0006	47	352	0.1335	28	c.657 others(43): Show c.657+294_657+295insACCTTCCTTCCTTCCTTCCTTCCTTCCT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	7/10			chr13	TogoVar
ERBB4_chr2_211370717_212543802	211460104	G G	GAATTGGG others(21): Show GAATTGGGACTTTCCTGAATTCCAGGAAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03834.hp2 NA19043.hp1 HG02258.hp1 HG03834.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0016 a0001c0002t0001g0036 a0001c0002t0001g0048 a0001c0001t0002g0016 a0001c0002t0001g0036 a0001c0002t0001g0048	3	56	0.0536	28	c.248 others(49): Show c.2488-29005_2488-29004insATTCCTGGAATTCAGGAAAGTCCC AATT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211524655	C C	CCCGCCGG others(21): Show CCCGCCGGCTGCTCCGAGTGCTCCGGCTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0046 a0001c0001t0009g0046	1	56	0.0179	28	c.248 others(49): Show c.2487+37247_2487+37248insCAGCCGGAGCACTCGGAGCAGCCG GCGG	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211524674	C C	CTCCGGCT others(21): Show CTCCGGCTGCTCCGGCTGCTCCGAGTGCG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02145.hp1 HG02145.hp2 others(12): Show HG01496.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02615.hp2 HG02809.hp1 HG02895.hp2 HG02922.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(11): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0002t0001 a0001c0002t0013	a0001c0001t0002g0024 a0001c0001t0006g0039 a0001c0001t0007g0043 others(12): Show a0001c0001t0002g0024 a0001c0001t0006g0039 a0001c0001t0007g0043 a0001c0001t0009g0023 a0001c0001t0012g0001 a0001c0001t0014g0007 a0001c0001t0020g0028 a0001c0001t0023g0012 a0001c0001t0025g0051 a0001c0001t0027g0055 a0001c0001t0028g0053 a0001c0001t0029g0054 a0001c0002t0001g0020 a0001c0002t0001g0048 a0001c0002t0013g0027	15	56	0.2679	28	c.248 others(49): Show c.2487+37228_2487+37229insCGCACTCGGAGCAGCCGGAGCAGC CGGA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211599513	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0043 a0001c0001t0007g0043	1	56	0.0179	28	c.230 others(49): Show c.2301+19663_2301+19664insCACACACACACACACACACACACA CACA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211673517	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG01243.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0029 a0001c0002t0001 a0001c0001t0029 a0001c0002t0001	a0001c0001t0029g0054 a0001c0002t0001g0037 a0001c0001t0029g0054 a0001c0002t0001g0037	2	56	0.0357	28	c.162 others(45): Show c.1623-261_1623-260insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	13/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211772830	T T	TACACATA others(21): Show TACACATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp1 NA18906.hp2 HG02717.hp2 HG02809.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0023 a0001c0001t0028 a0001c0001t0003 a0001c0001t0023 a0001c0001t0028	a0001c0001t0003g0017 a0001c0001t0023g0012 a0001c0001t0028g0053 a0001c0001t0003g0017 a0001c0001t0023g0012 a0001c0001t0028g0053	3	56	0.0536	28	c.556 others(47): Show c.556+15194_556+15195insGTGTGTGTATATATATATATATATGT GT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211940006	T T	TAGATAGA others(21): Show TAGATAGATAGATAGATAGATAGATAGAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0013	1	56	0.0179	28	c.421 others(45): Show c.421+7423_421+7424insGTCTATCTATCTATCTATCTATCTATCT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212003148	G G	GGAAGGAA others(21): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0034 a0001c0001t0015g0034	1	56	0.0179	28	c.235 others(47): Show c.235-55533_235-55532insTTTCTTTCTTTCTTTCTTTCTTTCCT TC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212003148	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	56	0.0179	28	c.235 others(47): Show c.235-55533_235-55532insTTTCTTTCTTTCCTTCCTTCCTTCCT TC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212102088	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	56	0.0179	28	c.234 others(47): Show c.234+22663_234+22664insTATATATATATATATATATATATATA TA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212102090	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02258.hp1 HG03239.hp1 others(2): Show HG01496.hp2 HG02258.hp1 HG03239.hp1 HG03239.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0013 a0001c0002t0018 others(1): Show a0001c0002t0001 a0001c0002t0013 a0001c0002t0018 a0002c0003t0001	a0001c0002t0001g0036 a0001c0002t0001g0048 a0001c0002t0013g0027 others(2): Show a0001c0002t0001g0036 a0001c0002t0001g0048 a0001c0002t0013g0027 a0001c0002t0018g0010 a0002c0003t0001g0014	5	56	0.0893	28	c.234 others(47): Show c.234+22661_234+22662insTATATATATATATATATATATATATA TA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212206589	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19240.hp1 HG03453.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0047 a0001c0001t0003g0050 a0001c0001t0002g0047 a0001c0001t0003g0050	2	56	0.0357	28	c.83- others(45): Show c.83-81687_83-81686insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212345265	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01891.hp2 NA19240.hp2 HG01175.hp2 HG01891.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0008 a0001c0001t0005g0015 a0001c0001t0005g0035 a0001c0001t0004g0008 a0001c0001t0005g0015 a0001c0001t0005g0035	3	56	0.0536	28	c.82+ others(47): Show c.82+193183_82+193184insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212346498	A A	AAAATGTT others(21): Show AAAATGTTTTAAAATATATTTAAAACATG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp1 HG03195.hp2 others(3): Show HG02922.hp1 HG02965.hp1 HG03195.hp2 HG03516.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0025 a0001c0004t0021	a0001c0001t0001g0021 a0001c0001t0002g0025 a0001c0001t0004g0008 others(3): Show a0001c0001t0001g0021 a0001c0001t0002g0025 a0001c0001t0004g0008 a0001c0001t0014g0007 a0001c0001t0025g0051 a0001c0004t0021g0009	6	56	0.1071	28	c.82+ others(47): Show c.82+191923_82+191950dupCATGTTTTAAATATATTTTAAAACAT TT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212513811	C C	CAATAAAT others(21): Show CAATAAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	56	0.0179	28	c.82+ others(45): Show c.82+24637_82+24638insTATTTATTTATTTATTTATTTATTTATT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212540894	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0051 a0001c0001t0025g0051	1	56	0.0179	28	c.-23 others(39): Show c.-2365_-2364insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding		2093		chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018487	T T	TTATATAT others(21): Show TTATATATTATATTATATAATATATATTA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0183 a0002c0003t0003g0183	1	306	0.0033	28	c.534 others(45): Show c.534-2830_534-2829insATTATATTATATAATATATATTATATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1093957	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG04199.hp1 HG01081.hp1 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0092 a0002c0002t0099 a0001c0003t0092 a0002c0002t0099	a0001c0003t0092g0004 a0002c0002t0099g0131 a0001c0003t0092g0004 a0002c0002t0099g0131	2	162	0.0124	28	c.108 others(49): Show c.1086+10378_1086+10405dupTATATATATATATATATATATATA TATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121725	C C	CTGTGTCT others(21): Show CTGTGTCTCTATCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0125 a0002c0002t0006g0125	1	162	0.0062	28	c.156 others(47): Show c.1569+5693_1569+5694insGTGTCTCTATCTCTATCTCTATCTCT AT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122009	C C	CTCTATCT others(21): Show CTCTATCTCTGTCTCTGTCTGTGTCTCTA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0089 a0002c0002t0089	a0002c0002t0089g0037 a0002c0002t0089g0037	1	162	0.0062	28	c.156 others(47): Show c.1569+5977_1569+5978insCTATCTCTGTCTCTGTCTGTGTCTCT AT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar

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