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
EDIL3_chr5_83935554_84389880	84371319	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG04184.hp2 HG02145.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0149 a0001c0001t0006g0072 a0001c0001t0001g0149 a0001c0001t0006g0072	2	158	0.0127	22	c.67+ others(39): Show c.67+12967_67+12988dupTATATATATATATATATATATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDN1_chr6_12285361_12302194	12285503	T T	TGTGGTGA others(15): Show TGTGGTGAGCATGTTCCCCAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	452	0.0022	22	c.-51 others(33): Show c.-5127_-5126insGTGGTGAGCATGTTCCCCAAGG	EDN1	ENSG00000078401.7	transcript	ENST00000379375.6	protein_coding		4857		chr6	TogoVar
EEA1_chr12_92765637_92934295	92869752	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0149 a0002c0003t0002g0149	1	244	0.0041	22	c.118 others(39): Show c.118-4787_118-4766dupTTTTTTTTTTTTTTTTTTTTTT	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	2/28			chr12	TogoVar
EED_chr11_86239753_86283810	86268594	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0170	1	392	0.0026	22	c.966 others(35): Show c.966+44_966+65dupGTGTGTGTGTGTGTGTGTGTGT	EED	ENSG00000074266.23	transcript	ENST00000263360.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
EEF1A2_chr20_63483014_63504083	63490068	T T	TTTTTTTT others(15): Show TTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01192.hp1 others(5): Show HG00735.hp2 HG01070.hp2 HG01192.hp1 HG01928.hp2 HG03831.hp1 NA18970.hp2 NA19011.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0002t0001g0203 others(3): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0002t0001g0203 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0076	8	374	0.0214	22	c.102 others(39): Show c.1029+410_1029+411insGAAAAAAAAAAAAAAAAAAAAA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	6/7			chr20	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp2 HG01192.hp2 others(5): Show HG00408.hp2 HG00673.hp2 HG01192.hp2 HG03130.hp1 HG03710.hp2 NA18951.hp1 NA19000.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0018 a0001c0001t0001 a0001c0001t0015 a0001c0001t0018	a0001c0001t0001g0098 a0001c0001t0001g0169 a0001c0001t0001g0170 others(5): Show a0001c0001t0001g0098 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0015g0171 a0001c0001t0018g0017	8	358	0.0224	22	c.291 others(37): Show c.291+332_291+333insTATATATATATATATATATATA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF2K_chr16_22201278_22293738	22226517	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03540.hp2 HG02809.hp2 HG03540.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0012 a0003c0004t0005g0013 a0003c0004t0005g0012 a0003c0004t0005g0013	2	290	0.0069	22	c.246 others(37): Show c.246+557_246+558insTTTTTTTTTTTTTTTTTTTTTT	EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
EEF2_chr19_3971056_3990463	3978803	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0073 a0001c0002t0002g0073	1	403	0.0025	22	c.171 others(39): Show c.1713+504_1713+525dupTTTTTTTTTTTTTTTTTTTTTT	EEF2	ENSG00000167658.16	transcript	ENST00000309311.7	protein_coding	11/14			chr19	TogoVar
EEFSEC_chr3_128148481_128413646	128152936	T T	TCCCCCCC others(15): Show TCCCCCCCGCCCCCGTCTTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0204 a0001c0003t0001g0204	1	272	0.0037	22	c.-57 others(31): Show c.-572_-571insCCCCCCCGCCCCCGTCTTCCCG	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		544		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152937	C C	CCCCCCCC others(15): Show CCCCCCCCGCCCCCGTCTTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0013 a0001c0008t0001g0013	1	272	0.0037	22	c.-57 others(31): Show c.-571_-570insCCCCCCCGCCCCCGTCTTCCCG	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		543		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152958	G G	GCCCCCCG others(15): Show GCCCCCCGCCCCCGTCTTCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	272	0.0037	22	c.-55 others(31): Show c.-550_-549insCCCCCCGCCCCCGTCTTCCCGC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		522		chr3	TogoVar
EEIG1_chr9_127935582_127985989	127985663	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG03710.hp1 others(4): Show HG01516.hp1 HG01517.hp2 HG03710.hp1 NA18962.hp1 NA19004.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0153 a0001c0002t0006g0100	7	342	0.0205	22	c.-55 others(33): Show c.-5527_-5526insTATATATATATATATATATATA	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4675		chr9	TogoVar
EEIG1_chr9_127935582_127985989	127985676	T T	TATATATA others(15): Show TATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02965.hp1 others(2): Show HG02258.hp1 HG02280.hp1 HG02965.hp1 HG03130.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0003 a0001c0002t0006g0101 a0001c0001t0001g0003 a0001c0002t0006g0101	5	342	0.0146	22	c.-55 others(33): Show c.-5540_-5539insGTATATATATATATATATATAT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4688		chr9	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01256.hp2 HG01358.hp1 others(1): Show HG01069.hp1 HG01256.hp2 HG01358.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0073 a0001c0001t0001g0112 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0073 a0001c0001t0001g0112 a0001c0001t0001g0155	4	272	0.0147	22	c.137 others(41): Show c.137+19210_137+19231dupGAGAGAGAGAGAGAGAGAGAGA	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEPD1_chr7_36148254_36306538	36151852	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01981.hp1 HG02080.hp1 others(34): Show HG01433.hp2 HG01981.hp1 HG02080.hp1 HG02109.hp1 HG02155.hp1 HG02523.hp2 HG02647.hp1 HG02647.hp2 HG02738.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp1 HG03516.hp2 HG03688.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18966.hp1 NA18980.hp1 NA18986.hp1 NA18989.hp2 NA18991.hp1 NA19009.hp1 NA19011.hp2 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19079.hp1 NA19085.hp2 NA19090.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0003 others(3): Show a0001c0001 a0001c0004 a0002c0003 a0002c0005 a0002c0014 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0032 a0001c0001t0037 a0001c0001t0051 a0001c0004t0006 a0001c0004t0012 a0001c0004t0016 a0001c0004t0065 a0002c0003t0001 a0002c0003t0003 a0002c0003t0037 a0002c0005t0006 a0002c0005t0022 a0002c0014t0031 a0004c0007t0003	a0001c0001t0001g0123 a0001c0001t0001g0269 a0001c0001t0001g0275 others(34): Show a0001c0001t0001g0123 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0289 a0001c0001t0001g0310 a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0276 a0001c0001t0003g0091 a0001c0001t0003g0122 a0001c0001t0003g0181 a0001c0001t0003g0292 a0001c0001t0003g0319 a0001c0001t0006g0070 a0001c0001t0010g0207 a0001c0001t0010g0285 a0001c0001t0015g0182 a0001c0001t0032g0192 a0001c0001t0037g0106 a0001c0001t0051g0260 a0001c0004t0006g0121 a0001c0004t0012g0196 a0001c0004t0016g0173 a0001c0004t0065g0233 a0002c0003t0001g0079 a0002c0003t0003g0318 a0002c0003t0037g0304 a0002c0005t0006g0277 a0002c0005t0022g0190 a0002c0014t0031g0064 a0004c0007t0003g0164	37	346	0.1069	22	c.-20 others(33): Show c.-2015_-2014insTTTTTTTTTTTTTTTTTTTTTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		1401		chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89834133	T T	TCACGAGG others(15): Show TCACGAGGTCAGGAGATAGAGAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	284	0.0035	22	c.411 others(41): Show c.411-36831_411-36810dupGTCTCTATCTCCTGACCTCGTG	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89835585	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0191 a0001c0002t0004g0191	1	284	0.0035	22	c.411 others(41): Show c.411-38283_411-38262dupACACACACACACACACACACAC	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB12_chr3_129396321_129433636	129424132	A A	ACTGTGTC others(15): Show ACTGTGTCTTAGTTCCCCTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03209.hp1 HG03225.hp1 others(2): Show HG01109.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 NA19030.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0107 a0009c0010t0001g0152 a0009c0010t0001g0154 others(2): Show a0009c0010t0001g0107 a0009c0010t0001g0152 a0009c0010t0001g0154 a0009c0010t0001g0155 a0009c0010t0001g0157	5	386	0.0130	22	c.50- others(37): Show c.50-2351_50-2330dupACACAGGGGAACTAAGACACAG	EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding	1/8			chr3	TogoVar
EFCAB13_chr17_47318955_47446312	47351304	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01891.hp1 HG00741.hp2 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0284 a0002c0002t0003g0331 a0002c0002t0003g0284 a0002c0002t0003g0331	2	356	0.0056	22	c.661 others(39): Show c.661+3354_661+3355insTGTGTGTGTGTGTGTGTGCGCG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47424874	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp1 HG01261.hp2 others(6): Show HG00438.hp1 HG00735.hp1 HG01261.hp2 HG02055.hp1 HG02109.hp1 HG02451.hp2 HG02602.hp1 NA19007.hp2 NA19063.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0006t0001 a0001c0006t0002 others(2): Show a0001c0001t0001 a0001c0006t0001 a0001c0006t0002 a0002c0002t0001 a0005c0005t0001	a0001c0001t0001g0051 a0001c0006t0001g0097 a0001c0006t0001g0100 others(6): Show a0001c0001t0001g0051 a0001c0006t0001g0097 a0001c0006t0001g0100 a0001c0006t0002g0072 a0001c0006t0002g0073 a0002c0002t0001g0009 a0005c0005t0001g0008 a0005c0005t0001g0110 a0005c0005t0001g0200	9	356	0.0253	22	c.249 others(41): Show c.2495-4939_2495-4918dupTTTTTTTTTTTTTTTTTTTTTT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB14_chr1_46670159_46724114	46700986	A A	AGTGAGTG others(15): Show AGTGAGTGAGTGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG06807.hp1 NA19043.hp2 HG01891.hp2 HG06807.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0023 a0001c0001t0024 a0001c0001t0005 a0001c0001t0023 a0001c0001t0024	a0001c0001t0005g0123 a0001c0001t0023g0120 a0001c0001t0024g0122 a0001c0001t0005g0123 a0001c0001t0023g0120 a0001c0001t0024g0122	3	374	0.0080	22	c.481 others(39): Show c.481-4338_481-4337insACACACACACTCACTCACTCAC	EFCAB14	ENSG00000159658.15	transcript	ENST00000371933.8	protein_coding	3/10			chr1	TogoVar
EFCAB5_chr17_29936634_30113452	29970637	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	248	0.0040	22	c.767 others(39): Show c.767+1280_767+1301dupCACACACACACACACACACACA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	29970661	C C	CACACACA others(15): Show CACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0002 a0003c0013t0002	a0003c0013t0002g0217 a0003c0013t0002g0217	1	248	0.0040	22	c.767 others(39): Show c.767+1301_767+1302insCACACACACACACATACACACA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30020942	G G	GTAATAAA others(15): Show GTAATAAAGGTTACACTAGAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(159): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02132.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18951.hp1 NA18955.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18971.hp1 NA18986.hp2 NA18993.hp1 NA18998.hp1 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19080.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0014	a0001c0001 a0001c0012 a0001c0024 others(13): Show a0001c0001 a0001c0012 a0001c0024 a0002c0020 a0003c0003 a0003c0006 a0003c0013 a0003c0014 a0004c0004 a0005c0007 a0006c0008 a0007c0009 a0008c0011 a0011c0022 a0012c0023 a0014c0021	a0001c0001t0001 a0001c0012t0001 a0001c0024t0004 others(13): Show a0001c0001t0001 a0001c0012t0001 a0001c0024t0004 a0002c0020t0002 a0003c0003t0002 a0003c0006t0002 a0003c0013t0002 a0003c0014t0002 a0004c0004t0002 a0005c0007t0002 a0006c0008t0002 a0007c0009t0002 a0008c0011t0002 a0011c0022t0001 a0012c0023t0001 a0014c0021t0002	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(159): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0012t0001g0187 a0001c0012t0001g0196 a0001c0024t0004g0159 a0002c0020t0002g0019 a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0136 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0139 a0003c0003t0002g0140 a0003c0003t0002g0141 a0003c0003t0002g0142 a0003c0003t0002g0143 a0003c0003t0002g0144 a0003c0003t0002g0145 a0003c0003t0002g0213 a0003c0003t0002g0214 a0003c0003t0002g0215 a0003c0003t0002g0216 a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 a0003c0013t0002g0217 a0003c0014t0002g0006 a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 a0004c0004t0002g0099 a0004c0004t0002g0104 a0004c0004t0002g0105 a0005c0007t0002g0129 a0005c0007t0002g0130 a0005c0007t0002g0131 a0006c0008t0002g0016 a0006c0008t0002g0017 a0006c0008t0002g0018 a0007c0009t0002g0100 a0007c0009t0002g0101 a0007c0009t0002g0102 a0008c0011t0002g0020 a0008c0011t0002g0021 a0011c0022t0001g0172 a0012c0023t0001g0181 a0014c0021t0002g0012	162	248	0.6532	22	c.104 others(43): Show c.1045-13286_1045-13285insATAAAGGTTACACTAGAAGATA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43538845	G G	GAACACCA others(15): Show GAACACCACTATTATCTTATTAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0235 a0001c0035t0001g0235	1	290	0.0035	22	c.387 others(41): Show c.3879+1281_3879+1282insATAATAAGATAATAGTGGTGTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	28/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43784589	A A	ATGTATAT others(15): Show ATGTATATATACACATATATATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00558.hp1 others(16): Show HG00099.hp2 HG00438.hp1 HG00558.hp1 HG00621.hp2 HG04199.hp2 NA18941.hp1 NA18945.hp1 NA18951.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18967.hp2 NA18983.hp2 NA18999.hp2 NA19000.hp1 NA19010.hp1 NA19060.hp1 NA19080.hp1 NA19087.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0020	a0001c0047 a0002c0021 a0004c0005 others(3): Show a0001c0047 a0002c0021 a0004c0005 a0004c0009 a0005c0020 a0020c0048	a0001c0047t0001 a0002c0021t0001 a0004c0005t0001 others(3): Show a0001c0047t0001 a0002c0021t0001 a0004c0005t0001 a0004c0009t0001 a0005c0020t0001 a0020c0048t0001	a0001c0047t0001g0178 a0002c0021t0001g0179 a0004c0005t0001g0022 others(16): Show a0001c0047t0001g0178 a0002c0021t0001g0179 a0004c0005t0001g0022 a0004c0005t0001g0162 a0004c0005t0001g0180 a0004c0005t0001g0247 a0004c0005t0001g0248 a0004c0005t0001g0249 a0004c0005t0001g0251 a0004c0005t0001g0252 a0004c0005t0001g0253 a0004c0009t0001g0167 a0004c0009t0001g0168 a0004c0009t0001g0170 a0004c0009t0001g0171 a0004c0009t0001g0176 a0005c0020t0001g0161 a0005c0020t0001g0169 a0020c0048t0001g0177	19	290	0.0655	22	c.-7- others(37): Show c.-7-2286_-7-2265dupCATATATATGTGTATATATACA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43789847	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0001 a0014c0017t0001	a0014c0017t0001g0282 a0014c0017t0001g0283 a0014c0017t0001g0282 a0014c0017t0001g0283	2	290	0.0069	22	c.-7- others(37): Show c.-7-7544_-7-7523dupTGTGTGTGTGTGTGTGTGTGTG	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32875502	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01496.hp1 HG01891.hp2 others(8): Show HG00741.hp2 HG01496.hp1 HG01891.hp2 HG02602.hp2 HG02886.hp2 HG02970.hp1 HG03491.hp2 HG03831.hp2 NA18966.hp1 NA19058.hp1 NA19064.hp1	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0009 a0010 a0020 a0026	a0002c0002 a0003c0003 a0004c0004 others(4): Show a0002c0002 a0003c0003 a0004c0004 a0009c0023 a0010c0009 a0020c0032 a0026c0027	a0002c0002t0001 a0003c0003t0001 a0004c0004t0003 others(4): Show a0002c0002t0001 a0003c0003t0001 a0004c0004t0003 a0009c0023t0001 a0010c0009t0004 a0020c0032t0004 a0026c0027t0003	a0002c0002t0001g0119 a0003c0003t0001g0201 a0004c0004t0003g0058 others(8): Show a0002c0002t0001g0119 a0003c0003t0001g0201 a0004c0004t0003g0058 a0004c0004t0003g0059 a0004c0004t0003g0084 a0004c0004t0003g0086 a0009c0023t0001g0125 a0010c0009t0004g0120 a0020c0032t0004g0062 a0020c0032t0004g0277 a0026c0027t0003g0126	11	284	0.0387	22	c.209 others(37): Show c.209-406_209-405insTTTTTTTTTTTTTTTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32935192	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0005 a0015c0019t0005	a0015c0019t0005g0231 a0015c0019t0005g0231	1	284	0.0035	22	c.279 others(41): Show c.2790+3860_2790+3881dupTTTTTTTTTTTTTTTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFEMP1_chr2_55860967_55928782	55875365	C C	CACACACA others(15): Show CACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	350	0.0029	22	c.881 others(37): Show c.881-301_881-300insATGTGTGTGTGTGTGTGTGTGT	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	8/11			chr2	TogoVar
EFHB_chr3_19874472_19939217	19908562	A A	AAGAGAGA others(15): Show AAGAGAGAAAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	344	0.0029	22	c.128 others(41): Show c.1289-2814_1289-2813insCTCTCTCTCTCTCTTTCTCTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908562	A A	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02965.hp2 HG04184.hp2 others(2): Show HG02895.hp1 HG02965.hp2 HG04184.hp2 HG04199.hp1 NA20129.hp1	a0002 a0005 a0007 a0002 a0005 a0007	a0002c0002 a0005c0006 a0007c0029 a0002c0002 a0005c0006 a0007c0029	a0002c0002t0001 a0005c0006t0001 a0007c0029t0001 a0002c0002t0001 a0005c0006t0001 a0007c0029t0001	a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0088 others(2): Show a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0088 a0005c0006t0001g0067 a0007c0029t0001g0120	5	344	0.0145	22	c.128 others(41): Show c.1289-2835_1289-2814dupCTCTCTCTCTCTCTCTCTCTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908598	G G	GAGAGAGA others(15): Show GAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19056.hp1 NA19009.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0257 a0001c0001t0002g0248 a0001c0001t0002g0257	2	344	0.0058	22	c.128 others(41): Show c.1289-2850_1289-2849insTTCTCTCTCTCTCTCTCTCTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHC1_chr6_52415342_52502198	52493365	C C	CATATATA others(15): Show CATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG02109.hp2 HG02486.hp2 others(8): Show HG00140.hp2 HG02109.hp2 HG02486.hp2 HG02615.hp2 HG02886.hp2 HG03688.hp1 HG03942.hp1 NA18972.hp1 NA19011.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0012 a0001c0001t0035 a0002c0002t0071 others(1): Show a0001c0001t0012 a0001c0001t0035 a0002c0002t0071 a0006c0006t0017	a0001c0001t0012g0019 a0001c0001t0012g0021 a0001c0001t0012g0046 others(6): Show a0001c0001t0012g0019 a0001c0001t0012g0021 a0001c0001t0012g0046 a0001c0001t0012g0059 a0001c0001t0012g0060 a0001c0001t0035g0037 a0002c0002t0071g0148 a0006c0006t0017g0014 a0006c0006t0017g0195	11	396	0.0278	22	c.10 others(33): Show c.1044_*1045insATATATATATATATATATATAT	EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	11/11	1045	INFO_REALIGN_3_PRIME	chr6	TogoVar
EFHC2_chrX_44142872_44348672	44187135	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01515.hp1 HG02809.hp1 others(3): Show HG01361.hp1 HG01515.hp1 HG02809.hp1 HG03041.hp1 HG04204.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0003 a0001c0001t0010 a0003c0003t0002 others(2): Show a0001c0001t0003 a0001c0001t0010 a0003c0003t0002 a0004c0004t0002 a0004c0004t0004	a0001c0001t0003g0184 a0001c0001t0010g0193 a0003c0003t0002g0100 others(3): Show a0001c0001t0003g0184 a0001c0001t0010g0193 a0003c0003t0002g0100 a0004c0004t0002g0022 a0004c0004t0002g0027 a0004c0004t0004g0133	6	221	0.0272	22	c.175 others(41): Show c.1752-8572_1752-8571insTATATATATATATATATATATA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHD1_chr2_232628604_232687776	232677207	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA19083.hp2 NA18989.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0004 a0001c0001t0004 a0001c0004t0004	a0001c0001t0004g0320 a0001c0004t0004g0144 a0001c0001t0004g0320 a0001c0004t0004g0144	2	382	0.0052	22	c.586 others(39): Show c.586-4365_586-4344dupACACACACACACACACACACAC	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFL1_chr15_82125233_82267734	82211595	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	368	0.0027	22	c.175 others(41): Show c.1750+3100_1750+3121dupGTGTGTGTGTGTGTGTGTGTGT	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFNB3_chr17_7700202_7716372	7714124	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00621.hp1 others(6): Show HG00558.hp1 HG00597.hp1 HG00621.hp1 HG01346.hp1 HG01361.hp2 HG01993.hp2 HG02523.hp2 NA18973.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0001 a0001c0001t0002g0004	9	434	0.0207	22	c.45 others(33): Show c.4548_*4549insGTGTGTGTGTGTGTGTGTGTGT	EFNB3	ENSG00000108947.5	transcript	ENST00000226091.3	protein_coding		2753		chr17	TogoVar
EFR3A_chr8_131899093_132018642	132006550	T T	TTTAACTT others(15): Show TTTAACTTTTAAAAAAAGCATTA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0351 a0002c0002t0002g0351	1	412	0.0024	22	c.236 others(41): Show c.2360+3265_2360+3266insTTAACTTTTAAAAAAAGCATTA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	22/22			chr8	TogoVar
EFR3A_chr8_131899093_132018642	132014011	T T	TATATATA others(15): Show TATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01070.hp1 HG01081.hp1 others(7): Show HG00323.hp1 HG01070.hp1 HG01081.hp1 NA18747.hp2 NA18961.hp2 NA18985.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0018t0001 a0001c0001t0001 a0001c0018t0001	a0001c0001t0001g0014 a0001c0001t0001g0088 a0001c0001t0001g0093 others(7): Show a0001c0001t0001g0014 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0175 a0001c0001t0001g0200 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0018t0001g0204	10	412	0.0243	22	c.31 others(33): Show c.3116_*3117insATATATATATATATACACACAC	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		370		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132014011	T T	TATATATA others(15): Show TATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 NA19056.hp2 HG03942.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0190 a0001c0001t0001g0158 a0001c0001t0001g0190	2	412	0.0049	22	c.31 others(33): Show c.3116_*3117insATATATATATATATATACACAC	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		370		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132018174	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01168.hp1 HG01169.hp2 others(28): Show HG01069.hp1 HG01168.hp1 HG01169.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG02056.hp2 HG02148.hp1 HG02572.hp2 HG02698.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03486.hp2 HG03491.hp1 HG03540.hp2 HG03704.hp2 NA18747.hp1 NA18906.hp2 NA18944.hp1 NA18955.hp1 NA18969.hp2 NA18994.hp2 NA19012.hp2 NA19054.hp1 NA19074.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA20752.hp2	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0002 a0003c0004 a0007c0016 a0002c0002 a0003c0004 a0007c0016	a0002c0002t0001 a0002c0002t0002 a0002c0002t0015 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0015 a0003c0004t0008 a0007c0016t0002	a0002c0002t0001g0151 a0002c0002t0002g0003 a0002c0002t0002g0004 others(27): Show a0002c0002t0001g0151 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0018 a0002c0002t0002g0226 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0293 a0002c0002t0002g0299 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0306 a0002c0002t0002g0323 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0330 a0002c0002t0002g0340 a0002c0002t0002g0342 a0002c0002t0002g0344 a0002c0002t0002g0347 a0002c0002t0002g0351 a0002c0002t0002g0353 a0002c0002t0002g0368 a0002c0002t0002g0369 a0002c0002t0002g0376 a0002c0002t0015g0356 a0003c0004t0008g0096 a0007c0016t0002g0317	31	412	0.0752	22	c.72 others(33): Show c.7279_*7280insAAAAAAAAAAAAAAAAAAAAAA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		4533		chr8	TogoVar
EFR3B_chr2_25037076_25164135	25046506	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0094 a0001c0001t0008g0094	1	306	0.0033	22	c.7+4 others(35): Show c.7+4203_7+4204insTTTTTTTTTTTTTTTTTTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFR3B_chr2_25037076_25164135	25080283	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	306	0.0033	22	c.8-1 others(37): Show c.8-11035_8-11014dupTTTTTTTTTTTTTTTTTTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EGFL6_chrX_13564601_13638575	13613157	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG02647.hp1 others(3): Show HG01109.hp1 HG02486.hp1 HG02647.hp1 HG03130.hp1 HG03453.hp1 NA19043.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0002c0003 a0004c0021 others(2): Show a0001c0001 a0002c0003 a0004c0021 a0004c0022 a0010c0016	a0001c0001t0001 a0002c0003t0004 a0004c0021t0001 others(2): Show a0001c0001t0001 a0002c0003t0004 a0004c0021t0001 a0004c0022t0001 a0010c0016t0004	a0001c0001t0001g0056 a0002c0003t0004g0036 a0002c0003t0004g0240 others(3): Show a0001c0001t0001g0056 a0002c0003t0004g0036 a0002c0003t0004g0240 a0004c0021t0001g0041 a0004c0022t0001g0175 a0010c0016t0004g0025	6	302	0.0199	22	c.779 others(39): Show c.779-4572_779-4551dupATATATATATATATATATATAT	EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
EGFL6_chrX_13564601_13638575	13623377	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01891.hp2 HG02615.hp1 others(2): Show HG01358.hp1 HG01891.hp2 HG02615.hp1 NA18945.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0238 a0001c0001t0001g0254 a0001c0001t0002g0094 others(2): Show a0001c0001t0001g0238 a0001c0001t0001g0254 a0001c0001t0002g0094 a0001c0001t0002g0130 a0001c0001t0010g0151	5	302	0.0166	22	c.118 others(39): Show c.1184-427_1184-426insTTTTTTTTTTTTTTTTTTTTTT	EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
EGFLAM_chr5_38253559_38470480	38336570	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0124 a0004c0004t0005g0124	1	190	0.0053	22	c.98- others(35): Show c.98-942_98-921dupCACACACACACACACACACACA	EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
EGFR_chr7_55014017_55216628	55196178	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	250	0.0040	22	c.270 others(41): Show c.2702-2524_2702-2523insTTTTTTTTTTTTTTTTTTTTTT	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGF_chr4_109907883_110018766	109932360	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0377 a0001c0001t0015g0377	1	388	0.0026	22	c.128 others(39): Show c.128-8569_128-8568insTATATATATATATATATATATA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGF_chr4_109907883_110018766	109932382	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03239.hp2 NA18994.hp2 others(2): Show HG02027.hp1 HG03239.hp2 NA18994.hp2 NA19002.hp2 NA19058.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0008 a0003c0003t0026 a0003c0003t0005 a0003c0003t0008 a0003c0003t0026	a0003c0003t0005g0017 a0003c0003t0005g0022 a0003c0003t0008g0044 others(2): Show a0003c0003t0005g0017 a0003c0003t0005g0022 a0003c0003t0008g0044 a0003c0003t0026g0015 a0003c0003t0026g0016	5	388	0.0129	22	c.128 others(39): Show c.128-8564_128-8563insATATATATATATATATATATAA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23			chr4	TogoVar

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