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
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(25): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	294	0.0034	32	c.62- others(47): Show c.62-3339_62-3338insCTTCCTTCCTTCTTTCTTTCTTTCTTTCTT TC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(25): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp1 NA18983.hp2 others(1): Show HG01109.hp1 HG01255.hp1 NA18983.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0002 a0001c0003t0009 a0002c0002t0001 others(1): Show a0001c0003t0002 a0001c0003t0009 a0002c0002t0001 a0002c0002t0011	a0001c0003t0002g0011 a0001c0003t0009g0021 a0002c0002t0001g0282 others(1): Show a0001c0003t0002g0011 a0001c0003t0009g0021 a0002c0002t0001g0282 a0002c0002t0011g0277	4	294	0.0136	32	c.62- others(47): Show c.62-3339_62-3338insCTTCCTTCTTTCTTTCTTTCTTTCTTTCTT TC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(25): Show CTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	294	0.0034	32	c.62- others(47): Show c.62-3339_62-3338insCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDA_chrX_69611113_70044472	69645618	G G	GTGTATAT others(25): Show GTGTATATATATATATGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	226	0.0044	32	c.396 others(51): Show c.396+28917_396+28918insATATATATATATGTGTGTATATATAT ATATGT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69655762	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG01167.hp1 others(12): Show HG00140.hp1 HG00423.hp2 HG01167.hp1 HG01169.hp1 HG01496.hp2 HG01943.hp1 HG02056.hp1 HG02145.hp1 HG02723.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG04199.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0021	a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 others(12): Show a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0187 a0001c0001t0002g0019 a0001c0001t0002g0049 a0001c0001t0002g0070 a0001c0001t0002g0145 a0001c0001t0004g0135 a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0008g0184 a0001c0001t0021g0099	15	226	0.0664	32	c.396 others(51): Show c.396+39083_396+39084insATATATATATATATATATATATATAT ATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDC3_chr15_74625558_74701024	74668729	T T	TGAAAGAA others(25): Show TGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG00673.hp2 others(24): Show HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG01074.hp1 HG01243.hp1 HG01255.hp2 HG02040.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02486.hp2 HG02647.hp1 HG02809.hp2 HG03130.hp1 HG04228.hp2 NA18906.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18987.hp2 NA18991.hp1 NA19010.hp2 NA19011.hp1 NA19055.hp2 NA19062.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0005t0002	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0140 others(24): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0002g0052 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0237 a0001c0001t0002g0255 a0001c0001t0002g0259 a0001c0001t0002g0269 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0004g0260 a0001c0001t0005g0274 a0001c0005t0002g0191	27	286	0.0944	32	c.484 others(49): Show c.484+2694_484+2725dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02922.hp2 NA19030.hp1 HG02602.hp2 HG02922.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0061 a0001c0001t0003g0060 a0001c0001t0003g0065 a0001c0001t0001g0061 a0001c0001t0003g0060 a0001c0001t0003g0065	3	158	0.0190	32	c.196 others(49): Show c.196+1590_196+1591insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84262659	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0101 a0001c0002t0003g0101	1	158	0.0063	32	c.68- others(47): Show c.68-8448_68-8447insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769218	C C	CACAAAAA others(25): Show CACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	358	0.0028	32	c.400 others(49): Show c.400-3611_400-3610insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02015.hp1 HG02165.hp1 others(7): Show HG00735.hp2 HG02015.hp1 HG02165.hp1 HG02698.hp2 HG03492.hp2 NA18612.hp2 NA18943.hp1 NA18998.hp1 NA19064.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0007	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0245 others(7): Show a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0003g0143 a0001c0001t0003g0144 a0002c0002t0001g0012 a0002c0002t0007g0013	10	358	0.0279	32	c.291 others(47): Show c.291+332_291+333insTATATATATATATATATATATATATATATA TA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp1 HG03579.hp2 HG02717.hp1 HG02818.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0320 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0004g0320 a0001c0001t0004g0321 a0001c0001t0004g0322	3	358	0.0084	32	c.291 others(47): Show c.291+332_291+333insTATATATATATATATATATATATATATATA AA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF1B2_chr2_206154895_206167928	206161960	T T	TTTTTTGT others(25): Show TTTTTTGTGATGACCTTTTTCTGATTAGCAGTC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	360	0.0028	32	c.331 others(45): Show c.331-64_331-63insTTTTTCTGATTAGCAGTCTTTTTGTGATGACC	EEF1B2	ENSG00000114942.15	transcript	ENST00000392222.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
EEFSEC_chr3_128148481_128413646	128152894	A A	ACGCCCCC others(25): Show ACGCCCCCCCCCGCCCCCCCATCCTACCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 NA19067.hp1 HG00597.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0178 a0001c0001t0001g0155 a0001c0001t0001g0178	2	272	0.0074	32	c.-61 others(41): Show c.-614_-613insCGCCCCCCCCCGCCCCCCCATCCTACCCCCCC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		586		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152895	C C	CGCCCCCC others(25): Show CGCCCCCCCCCCCGCCCCCCATCCTACCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01952.hp2 HG01981.hp2 others(13): Show HG01361.hp2 HG01952.hp2 HG01981.hp2 HG02109.hp2 HG02273.hp2 HG02523.hp1 HG02572.hp1 HG02630.hp2 HG03041.hp2 HG04199.hp2 HG04204.hp2 NA18948.hp2 NA18971.hp2 NA19054.hp2 NA19060.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 others(13): Show a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0006t0001g0223 a0001c0006t0001g0236	16	272	0.0588	32	c.-61 others(41): Show c.-613_-612insGCCCCCCCCCCCGCCCCCCATCCTACCCCCCA	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		585		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152896	G G	GCCCCCCC others(25): Show GCCCCCCCCCGCCCCCCATCCTACCCCCCCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02258.hp1 NA19030.hp2 HG00621.hp1 HG02258.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0003 a0001c0001t0001 a0002c0005t0003	a0001c0001t0001g0033 a0001c0001t0001g0068 a0002c0005t0003g0047 a0001c0001t0001g0033 a0001c0001t0001g0068 a0002c0005t0003g0047	3	272	0.0110	32	c.-61 others(41): Show c.-612_-611insCCCCCCCCCGCCCCCCATCCTACCCCCCCCGT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		584		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152896	G G	GCCCCCCC others(25): Show GCCCCCCCCCGCCCCCCCATCCTACCCCCCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	272	0.0037	32	c.-61 others(41): Show c.-612_-611insCCCCCCCCCGCCCCCCCATCCTACCCCCCCGT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		584		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152896	G G	GCCCCCCC others(25): Show GCCCCCCCCGCCCCCCCATCCTACCCCCCCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	272	0.0037	32	c.-61 others(41): Show c.-612_-611insCCCCCCCCGCCCCCCCATCCTACCCCCCCCGT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		584		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128348271	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGCGTGTGTGTGTGTGCGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG01496.hp1 others(25): Show HG01243.hp2 HG01255.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03669.hp2 HG03831.hp2 HG04204.hp1 HG06807.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0001c0008 others(1): Show a0001c0002 a0001c0006 a0001c0008 a0002c0007	a0001c0002t0001 a0001c0006t0001 a0001c0008t0001 others(1): Show a0001c0002t0001 a0001c0006t0001 a0001c0008t0001 a0002c0007t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(25): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0006t0001g0223 a0001c0006t0001g0236 a0001c0008t0001g0013 a0001c0008t0001g0014 a0002c0007t0001g0017 a0002c0007t0001g0021	28	272	0.1029	32	c.144 others(51): Show c.1443+6387_1443+6388insTGTGTGCGTGTGTGTGTGTGCGTGTG TGTGTG	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
EEIG1_chr9_127935582_127985989	127985663	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01069.hp2 HG01884.hp1 others(25): Show HG00621.hp2 HG01069.hp2 HG01884.hp1 HG01934.hp1 HG01952.hp1 HG02004.hp2 HG02109.hp2 HG02155.hp2 HG02451.hp2 HG02523.hp2 HG02615.hp1 HG02809.hp1 HG03017.hp1 HG03139.hp2 HG03669.hp1 NA18942.hp1 NA18942.hp2 NA18973.hp2 NA18988.hp1 NA18991.hp1 NA19003.hp1 NA19056.hp2 NA19074.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0021 a0001c0002t0003	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0011g0031 a0001c0001t0021g0230 a0001c0002t0003g0161	28	342	0.0819	32	c.-55 others(43): Show c.-5527_-5526insTATATATATATATATATATATATATATATATA	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4675		chr9	TogoVar
EEIG1_chr9_127935582_127985989	127985676	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	342	0.0029	32	c.-55 others(43): Show c.-5540_-5539insGTGTGTATATATATATATATATATATATATAT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4688		chr9	TogoVar
EEIG1_chr9_127935582_127985989	127985676	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	342	0.0029	32	c.-55 others(43): Show c.-5540_-5539insGTATATATATATATATATATATATATATATAT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4688		chr9	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGAGAGAG others(25): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02559.hp2 NA19058.hp1 HG01169.hp1 HG02559.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0083 a0001c0001t0001g0139 a0001c0001t0001g0144	3	272	0.0110	32	c.137 others(51): Show c.137+19231_137+19232insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGAGAG others(25): Show TGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	272	0.0037	32	c.137 others(51): Show c.137+19208_137+19209insTGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB11_chr14_89789669_89959730	89881452	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG01070.hp1 others(48): Show HG00140.hp2 HG00408.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01175.hp2 HG01261.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp2 HG01928.hp2 HG02027.hp1 HG02109.hp2 HG02148.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02723.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp2 HG03927.hp1 HG03927.hp2 NA18522.hp1 NA18906.hp1 NA18943.hp2 NA18947.hp1 NA18954.hp2 NA18968.hp1 NA18968.hp2 NA18984.hp2 NA19009.hp1 NA19054.hp1 NA19086.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0002c0005 a0003c0008 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0022 a0001c0001t0032 a0001c0003t0008 a0001c0004t0001 a0001c0004t0006 a0001c0004t0009 a0001c0004t0036 a0002c0005t0003 a0002c0005t0009 a0002c0005t0029 a0003c0008t0001 a0003c0008t0026 a0004c0010t0004	a0001c0001t0001g0058 a0001c0001t0001g0127 a0001c0001t0001g0140 others(48): Show a0001c0001t0001g0058 a0001c0001t0001g0127 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0233 a0001c0001t0001g0242 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0071 a0001c0001t0002g0081 a0001c0001t0003g0042 a0001c0001t0003g0052 a0001c0001t0003g0244 a0001c0001t0004g0073 a0001c0001t0004g0105 a0001c0001t0004g0107 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0174 a0001c0001t0005g0092 a0001c0001t0005g0113 a0001c0001t0005g0115 a0001c0001t0005g0241 a0001c0001t0006g0149 a0001c0001t0007g0036 a0001c0001t0007g0126 a0001c0001t0007g0161 a0001c0001t0007g0234 a0001c0001t0011g0094 a0001c0001t0011g0130 a0001c0001t0013g0108 a0001c0001t0014g0240 a0001c0001t0018g0100 a0001c0001t0022g0064 a0001c0001t0032g0235 a0001c0003t0008g0006 a0001c0004t0001g0278 a0001c0004t0006g0280 a0001c0004t0006g0284 a0001c0004t0009g0272 a0001c0004t0036g0282 a0002c0005t0003g0257 a0002c0005t0009g0254 a0002c0005t0029g0260 a0003c0008t0001g0266 a0003c0008t0026g0267 a0004c0010t0004g0040	51	284	0.1796	32	c.410 others(51): Show c.410+50088_410+50089insATATATATATATATATATATATATAT ATATAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB13_chr17_47318955_47446312	47351304	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0335 a0002c0002t0003g0335	1	356	0.0028	32	c.661 others(49): Show c.661+3354_661+3355insTGTGTGTGTGTGTGTGTGCGCGCGCGCG CGCG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43618143	G G	GAGGAAGG others(25): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01943.hp2 HG02896.hp1 others(7): Show HG00438.hp2 HG01943.hp2 HG02896.hp1 HG02897.hp1 HG03654.hp2 NA18950.hp2 NA18972.hp1 NA19081.hp2 NA19084.hp2 NA19091.hp2	a0002 a0003 a0018 others(1): Show a0002 a0003 a0018 a0019	a0002c0002 a0003c0003 a0018c0044 others(1): Show a0002c0002 a0003c0003 a0018c0044 a0019c0043	a0002c0002t0001 a0003c0003t0001 a0018c0044t0001 others(1): Show a0002c0002t0001 a0003c0003t0001 a0018c0044t0001 a0019c0043t0001	a0002c0002t0001g0242 a0002c0002t0001g0243 a0003c0003t0001g0072 others(7): Show a0002c0002t0001g0242 a0002c0002t0001g0243 a0003c0003t0001g0072 a0003c0003t0001g0184 a0003c0003t0001g0206 a0003c0003t0001g0223 a0003c0003t0001g0225 a0003c0003t0001g0228 a0018c0044t0001g0221 a0019c0043t0001g0224	10	290	0.0345	32	c.246 others(51): Show c.2466-2222_2466-2221insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618165	G G	GGAAGGAA others(25): Show GGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18999.hp1 HG03834.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0205 a0001c0001t0001g0039 a0001c0001t0001g0205	2	290	0.0069	32	c.246 others(51): Show c.2466-2244_2466-2243insTTTCTTTCTTTCTTTCTTTCCTTCCT TCCTTC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618165	G G	GGAAGGAA others(25): Show GGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0075 a0001c0027t0001g0075	1	290	0.0035	32	c.246 others(51): Show c.2466-2244_2466-2243insTTTCTTTCTTTCTTTCCTTCCTTCCT TCCTTC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43675312	G G	GTATATTA others(25): Show GTATATTATACTATAATATATAATATAATATAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01934.hp1 HG02280.hp2 HG01261.hp2 HG01934.hp1 HG02280.hp2	a0002 a0011 a0002 a0011	a0002c0019 a0011c0015 a0002c0019 a0011c0015	a0002c0019t0001 a0011c0015t0001 a0002c0019t0001 a0011c0015t0001	a0002c0019t0001g0124 a0002c0019t0001g0125 a0011c0015t0001g0102 a0002c0019t0001g0124 a0002c0019t0001g0125 a0011c0015t0001g0102	3	290	0.0103	32	c.141 others(51): Show c.1419+2652_1419+2683dupGTATATTATATTATATATTATAGTAT AATATA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	13/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43784547	A A	ATACACAT others(25): Show ATACACATATATATGTATATATACACATATATG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp1 HG02055.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0046 a0001c0001 a0001c0046	a0001c0001t0001 a0001c0046t0001 a0001c0001t0001 a0001c0046t0001	a0001c0001t0001g0258 a0001c0046t0001g0067 a0001c0001t0001g0258 a0001c0046t0001g0067	2	290	0.0069	32	c.-7- others(47): Show c.-7-2223_-7-2222insCATATATGTGTATATATACATATATATGTG TA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32939125	C C	CCCTTTCT others(25): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0073 a0004c0004t0003g0073	1	284	0.0035	32	c.279 others(51): Show c.2791-4511_2791-4510insCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26			chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32940003	G G	GCCTCCCT others(25): Show GCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01891.hp1 HG02109.hp1 others(3): Show HG00741.hp2 HG01891.hp1 HG02109.hp1 HG02145.hp1 HG03017.hp2 NA18951.hp2	a0004 a0005 a0008 others(1): Show a0004 a0005 a0008 a0017	a0004c0004 a0005c0013 a0008c0007 others(1): Show a0004c0004 a0005c0013 a0008c0007 a0017c0017	a0004c0004t0003 a0005c0013t0004 a0008c0007t0003 others(1): Show a0004c0004t0003 a0005c0013t0004 a0008c0007t0003 a0017c0017t0007	a0004c0004t0003g0068 a0004c0004t0003g0084 a0005c0013t0004g0097 others(3): Show a0004c0004t0003g0068 a0004c0004t0003g0084 a0005c0013t0004g0097 a0008c0007t0003g0281 a0017c0017t0007g0227 a0017c0017t0007g0228	6	284	0.0211	32	c.279 others(51): Show c.2791-3610_2791-3609insCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32940023	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0130 a0003c0003t0001g0130	1	284	0.0035	32	c.279 others(51): Show c.2791-3610_2791-3609insCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFEMP1_chr2_55860967_55928782	55865188	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0243 a0001c0001t0005g0243	1	350	0.0029	32	c.18 others(43): Show c.1884_*1885insATATATATATATATATATATATATATATATAT	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding		778		chr2	TogoVar
EFHB_chr3_19874472_19939217	19894989	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03516.hp2 HG03195.hp2 HG03516.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0026 a0008c0011t0001g0027 a0008c0011t0001g0026 a0008c0011t0001g0027	2	344	0.0058	32	c.172 others(51): Show c.1725+1697_1725+1698insATATATATATATATATATATATATAT ATATAT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	9/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908562	A A	AAGAGAGA others(25): Show AAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0073 a0005c0006t0001g0073	1	344	0.0029	32	c.128 others(51): Show c.1289-2814_1289-2813insCTCTCTCTCTCTCTCTCTCTCTCTTT CTCTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHC1_chr6_52415342_52502198	52493365	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG01069.hp1 others(9): Show HG00099.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01123.hp2 HG01496.hp2 HG02109.hp1 HG02622.hp2 HG02922.hp2 HG04184.hp2 HG04204.hp2 NA19085.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0010 a0001c0001t0027 a0001c0001t0029 others(5): Show a0001c0001t0010 a0001c0001t0027 a0001c0001t0029 a0001c0001t0060 a0002c0002t0027 a0002c0002t0090 a0004c0004t0010 a0004c0004t0061	a0001c0001t0010g0026 a0001c0001t0010g0112 a0001c0001t0010g0129 others(9): Show a0001c0001t0010g0026 a0001c0001t0010g0112 a0001c0001t0010g0129 a0001c0001t0027g0092 a0001c0001t0029g0108 a0001c0001t0029g0120 a0001c0001t0060g0055 a0002c0002t0027g0009 a0002c0002t0090g0114 a0004c0004t0010g0113 a0004c0004t0010g0126 a0004c0004t0061g0025	12	396	0.0303	32	c.10 others(43): Show c.1044_*1045insATATATATATATATATATATATATATATATAT	EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	11/11	1045	INFO_REALIGN_3_PRIME	chr6	TogoVar
EFHC1_chr6_52415342_52502198	52493373	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0050 a0001c0010t0050	a0001c0010t0050g0204 a0001c0010t0050g0204	1	396	0.0025	32	c.10 others(43): Show c.1044_*1045insATATATATATATATATATACATATATATATAT	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(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01975.hp1 HG02148.hp1 others(4): Show HG01943.hp1 HG01975.hp1 HG02148.hp1 HG02647.hp1 HG02735.hp1 NA18747.hp1 NA18984.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0003c0003t0002	a0001c0001t0001g0024 a0001c0001t0003g0136 a0001c0001t0011g0048 others(4): Show a0001c0001t0001g0024 a0001c0001t0003g0136 a0001c0001t0011g0048 a0003c0003t0002g0020 a0003c0003t0002g0054 a0003c0003t0002g0057 a0003c0003t0002g0059	7	221	0.0317	32	c.175 others(51): Show c.1752-8572_1752-8571insTATATATATATATATATATATATATA TATATA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHD1_chr2_232628604_232687776	232677207	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0158 a0001c0001t0004g0158	1	382	0.0026	32	c.586 others(49): Show c.586-4375_586-4344dupACACACACACACACACACACACACACAC ACAC	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(25): Show GACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01891.hp1 HG02015.hp2 others(10): Show HG01361.hp1 HG01891.hp1 HG02015.hp2 HG02615.hp2 HG03453.hp1 HG03579.hp1 NA18979.hp1 NA18988.hp2 NA18998.hp2 NA19058.hp2 NA19060.hp2 NA19078.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0008 a0002c0002 a0001c0005 a0001c0008 a0002c0002	a0001c0005t0001 a0001c0008t0001 a0002c0002t0001 a0001c0005t0001 a0001c0008t0001 a0002c0002t0001	a0001c0005t0001g0015 a0001c0005t0001g0021 a0001c0008t0001g0352 others(10): Show a0001c0005t0001g0015 a0001c0005t0001g0021 a0001c0008t0001g0352 a0001c0008t0001g0359 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0089 a0002c0002t0001g0095 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0107 a0002c0002t0001g0181 a0002c0002t0001g0313	13	368	0.0353	32	c.175 others(51): Show c.1750+3121_1750+3122insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFNA5_chr5_107371894_107675937	107399310	G G	GAAACGGA others(25): Show GAAACGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0047 a0001c0001t0007g0047	1	190	0.0053	32	c.419 others(51): Show c.419-11540_419-11539insTCCTTTCCTTTCCTTTCCTTTCCTTT CCGTTT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4			chr5	TogoVar
EFR3A_chr8_131899093_132018642	132018174	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 NA18522.hp1 HG04184.hp1 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0006 a0003c0004t0008 a0001c0001t0006 a0003c0004t0008	a0001c0001t0006g0145 a0003c0004t0008g0147 a0001c0001t0006g0145 a0003c0004t0008g0147	2	412	0.0049	32	c.72 others(43): Show c.7279_*7280insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		4533		chr8	TogoVar
EFR3B_chr2_25037076_25164135	25046506	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02015.hp2 NA18943.hp1 others(2): Show HG00609.hp1 HG02015.hp2 NA18943.hp1 NA18978.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 others(2): Show a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0008g0107	5	306	0.0163	32	c.7+4 others(45): Show c.7+4203_7+4204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	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(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0004 a0002c0025t0004	a0002c0025t0004g0265 a0002c0025t0004g0265	1	302	0.0033	32	c.779 others(49): Show c.779-4551_779-4550insATATATATATATATATATATATATATAT ATAT	EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
EGF_chr4_109907883_110018766	109932360	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	388	0.0026	32	c.128 others(49): Show c.128-8569_128-8568insTATATATATATATATATATATATATATA TATA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGF_chr4_109907883_110018766	109932376	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18998.hp2 NA19082.hp2 NA18985.hp2 NA18998.hp2 NA19082.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0004 a0001c0001t0013 a0008c0008t0003 a0001c0001t0004 a0001c0001t0013 a0008c0008t0003	a0001c0001t0004g0340 a0001c0001t0013g0327 a0008c0008t0003g0374 a0001c0001t0004g0340 a0001c0001t0013g0327 a0008c0008t0003g0374	3	388	0.0077	32	c.128 others(49): Show c.128-8569_128-8568insTATATATATATATATATATATATATATA TAAA	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(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0045 a0003c0003t0005g0045	1	388	0.0026	32	c.128 others(49): Show c.128-8564_128-8563insATATATATATATATATATATATATATAT ATAA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23			chr4	TogoVar
EHBP1_chr2_62700713_63051487	62900682	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	198	0.0051	32	c.118 others(53): Show c.1185+26151_1185+26152insATATATATATATATATATATATAT ATATATAT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	63019830	G G	GGGAGGGA others(25): Show GGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03710.hp2 NA18962.hp2 HG03491.hp1 HG03710.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0156 a0001c0001t0001g0170 a0001c0001t0001g0173	3	198	0.0152	32	c.310 others(53): Show c.3104-17702_3104-17701insGGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGA	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

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