JoGo: Joint Open Genome and Omics Platform

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
EFCAB13_chr17_47318955_47446312	47351296	TGTGTGTG others(11): Show TGTGTGTGTGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(26): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG01123.hp2 HG02004.hp2 HG02027.hp2 HG02155.hp2 HG02602.hp2 HG02698.hp2 HG02738.hp2 HG03654.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 NA18955.hp2 NA18957.hp1 NA18965.hp1 NA18977.hp2 NA18981.hp2 NA18985.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19063.hp2 NA19075.hp1 NA19081.hp1	a0002 a0005 a0011 a0002 a0005 a0011	a0002c0002 a0005c0005 a0011c0027 a0002c0002 a0005c0005 a0011c0027	a0002c0002t0003 a0005c0005t0001 a0005c0005t0002 others(3): Show a0002c0002t0003 a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0005c0005t0007 a0011c0027t0001	a0002c0002t0003g0328 a0005c0005t0001g0007 a0005c0005t0001g0008 others(26): Show a0002c0002t0003g0328 a0005c0005t0001g0007 a0005c0005t0001g0008 a0005c0005t0001g0068 a0005c0005t0001g0069 a0005c0005t0001g0071 a0005c0005t0001g0074 a0005c0005t0001g0075 a0005c0005t0001g0110 a0005c0005t0001g0115 a0005c0005t0001g0116 a0005c0005t0001g0200 a0005c0005t0001g0202 a0005c0005t0001g0203 a0005c0005t0001g0204 a0005c0005t0001g0206 a0005c0005t0001g0207 a0005c0005t0001g0208 a0005c0005t0001g0209 a0005c0005t0001g0210 a0005c0005t0001g0211 a0005c0005t0001g0212 a0005c0005t0001g0274 a0005c0005t0001g0342 a0005c0005t0002g0238 a0005c0005t0003g0118 a0005c0005t0003g0327 a0005c0005t0007g0213 a0011c0027t0001g0121	29	356	0.0815	-18	c.661 others(35): Show c.661+3347_661+3364delTGTGTGTGCGCGCGCGCG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47351298	TGTGTGTG others(11): Show TGTGTGTGCGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0272 a0002c0002t0001g0272	1	356	0.0028	-18	c.661 others(35): Show c.661+3349_661+3366delTGTGTGCGCGCGCGCGCG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	29970651	CACACACA others(11): Show CACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0131 a0005c0007t0002g0131	1	248	0.0040	-18	c.767 others(35): Show c.767+1302_767+1319delTACACACACACACACACA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	29994133	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02615.hp2 HG03486.hp1 others(1): Show HG00621.hp1 HG02615.hp2 HG03486.hp1 NA20129.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0020 a0003c0006 others(1): Show a0002c0002 a0002c0020 a0003c0006 a0003c0014	a0002c0002t0002 a0002c0020t0002 a0003c0006t0002 others(1): Show a0002c0002t0002 a0002c0020t0002 a0003c0006t0002 a0003c0014t0002	a0002c0002t0002g0089 a0002c0020t0002g0019 a0003c0006t0002g0005 others(1): Show a0002c0002t0002g0089 a0002c0020t0002g0019 a0003c0006t0002g0005 a0003c0014t0002g0006	4	248	0.0161	-18	c.924 others(33): Show c.924+839_924+856delATATATATATATATATAT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30026961	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01516.hp1 HG01517.hp2 others(12): Show HG00741.hp1 HG01516.hp1 HG01517.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 NA18522.hp1 NA19240.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0007 a0016	a0002c0002 a0003c0003 a0003c0014 others(3): Show a0002c0002 a0003c0003 a0003c0014 a0004c0004 a0007c0009 a0016c0026	a0002c0002t0002 a0003c0003t0002 a0003c0014t0002 others(3): Show a0002c0002t0002 a0003c0003t0002 a0003c0014t0002 a0004c0004t0002 a0007c0009t0002 a0016c0026t0002	a0002c0002t0002g0036 a0003c0003t0002g0140 a0003c0003t0002g0141 others(12): Show a0002c0002t0002g0036 a0003c0003t0002g0140 a0003c0003t0002g0141 a0003c0003t0002g0142 a0003c0003t0002g0144 a0003c0003t0002g0145 a0003c0014t0002g0006 a0004c0004t0002g0097 a0004c0004t0002g0098 a0004c0004t0002g0104 a0004c0004t0002g0105 a0007c0009t0002g0100 a0007c0009t0002g0101 a0007c0009t0002g0102 a0016c0026t0002g0083	15	248	0.0605	-18	c.104 others(37): Show c.1045-7243_1045-7226delTTTTTTTTTTTTTTTTTT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30096983	TATATACA others(11): Show TATATACATATACATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01123.hp1 HG01496.hp1 HG00099.hp1 HG01123.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231	3	248	0.0121	-18	c.432 others(37): Show c.4321+4101_4321+4118delCATATACATATACATATA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43524509	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02615.hp2 others(9): Show HG02055.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03579.hp1 HG06807.hp1	a0001 a0002 a0017 others(3): Show a0001 a0002 a0017 a0026 a0027 a0029	a0001c0001 a0002c0002 a0017c0025 others(3): Show a0001c0001 a0002c0002 a0017c0025 a0026c0028 a0027c0030 a0029c0031	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0017c0025t0002 a0026c0028t0003 a0027c0030t0009 a0029c0031t0002	a0001c0001t0001g0083 a0001c0001t0002g0006 a0001c0001t0002g0007 others(9): Show a0001c0001t0001g0083 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0013 a0002c0002t0001g0123 a0017c0025t0002g0011 a0026c0028t0003g0003 a0027c0030t0009g0290 a0029c0031t0002g0012	12	290	0.0414	-18	c.43 others(29): Show c.4326_*4343delACACACACACACACACAC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding		4268		chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43589280	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01243.hp2 HG01346.hp1 others(14): Show HG00323.hp2 HG01243.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp2 HG02004.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp2 NA18954.hp1 NA20805.hp2	a0006 a0023 a0032 a0006 a0023 a0032	a0006c0006 a0023c0034 a0032c0042 a0006c0006 a0023c0034 a0032c0042	a0006c0006t0001 a0023c0034t0001 a0032c0042t0001 a0006c0006t0001 a0023c0034t0001 a0032c0042t0001	a0006c0006t0001g0163 a0006c0006t0001g0257 a0006c0006t0001g0265 others(14): Show a0006c0006t0001g0163 a0006c0006t0001g0257 a0006c0006t0001g0265 a0006c0006t0001g0267 a0006c0006t0001g0268 a0006c0006t0001g0269 a0006c0006t0001g0270 a0006c0006t0001g0271 a0006c0006t0001g0272 a0006c0006t0001g0273 a0006c0006t0001g0276 a0006c0006t0001g0277 a0006c0006t0001g0278 a0006c0006t0001g0279 a0006c0006t0001g0280 a0023c0034t0001g0082 a0032c0042t0001g0275	17	290	0.0586	-18	c.303 others(35): Show c.3032+776_3032+793delTTTTTTTTTTTTTTTTTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	24/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43626043	GTATGTAT others(11): Show GTATGTATGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18951.hp2 HG02040.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0035 a0001c0001 a0001c0035	a0001c0001t0001 a0001c0035t0001 a0001c0001t0001 a0001c0035t0001	a0001c0001t0001g0190 a0001c0035t0001g0235 a0001c0001t0001g0190 a0001c0035t0001g0235	2	290	0.0069	-18	c.246 others(35): Show c.2465+386_2465+403delTATATACACACATACATA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB7_chr1_63518525_63577693	63562445	TTATTTAT others(11): Show TTATTTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(17): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG01496.hp1 HG02027.hp2 NA18747.hp1 NA18946.hp1 NA18962.hp2 NA18969.hp2 NA18971.hp2 NA18980.hp1 NA18985.hp1 NA18986.hp2 NA19001.hp2 NA19004.hp2 NA19054.hp2 NA19068.hp2 NA19087.hp2 NA19088.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0016 a0001c0001 a0016c0016	a0001c0001t0001 a0016c0016t0001 a0001c0001t0001 a0016c0016t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0026 others(12): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0257 a0016c0016t0001g0010	20	374	0.0535	-18	c.149 others(35): Show c.1497+592_1497+609delTTATATATATATATATAT	EFCAB7	ENSG00000203965.13	transcript	ENST00000371088.5	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB8_chr20_32853923_32966845	32860493	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0261 a0002c0002t0001g0261	1	284	0.0035	-18	c.-11 others(35): Show c.-11+1501_-11+1518delTTTTTTTTTTTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32963056	CACTTGAT others(11): Show CACTTGATGTCTTAAAACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 NA18961.hp2 NA18962.hp2 others(1): Show HG01070.hp2 NA18961.hp2 NA18962.hp2 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0002c0002t0002 a0001c0001t0001 a0001c0001t0009 a0002c0002t0002	a0001c0001t0001g0163 a0001c0001t0009g0114 a0002c0002t0002g0038 others(1): Show a0001c0001t0001g0163 a0001c0001t0009g0114 a0002c0002t0002g0038 a0002c0002t0002g0053	4	284	0.0141	-18	c.14 others(29): Show c.1448_*1465delACTTGATGTCTTAAAACA	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding		1212		chr20	TogoVar
EFHB_chr3_19874472_19939217	19908592	GAGAGAGA others(11): Show GAGAGAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	344	0.0029	-18	c.128 others(37): Show c.1289-2861_1289-2844delTTCTTTCTTTCTCTCTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19934299	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	344	0.0029	-18	c.-29 others(27): Show c.-299_-282delTTGAGAGAGAGAGAGAGA	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding		83		chr3	TogoVar
EFHC2_chrX_44142872_44348672	44209019	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02280.hp1 HG02572.hp1 others(6): Show HG02040.hp1 HG02280.hp1 HG02572.hp1 HG02818.hp2 HG03130.hp1 HG06807.hp2 NA18955.hp1 NA18984.hp1 NA19010.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0024 a0006c0007t0002	a0001c0001t0001g0215 a0001c0001t0003g0136 a0001c0001t0003g0171 others(6): Show a0001c0001t0001g0215 a0001c0001t0003g0136 a0001c0001t0003g0171 a0001c0001t0006g0170 a0001c0001t0010g0073 a0001c0001t0024g0221 a0006c0007t0002g0025 a0006c0007t0002g0026 a0006c0007t0002g0203	9	221	0.0407	-18	c.175 others(39): Show c.1751+20612_1751+20629delCACACACACACACACACA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44251597	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 NA18957.hp1 HG02896.hp2 HG02897.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0148 a0001c0001t0012g0032 a0001c0001t0012g0033 a0001c0001t0001g0148 a0001c0001t0012g0032 a0001c0001t0012g0033	3	221	0.0136	-18	c.607 others(35): Show c.607-1170_607-1153delTTTTTTTTTTTTTTTTTT	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	4/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44282629	GGGGGGGG others(11): Show GGGGGGGGTGGGGGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18939.hp2 HG02165.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0118 a0002c0002t0007g0216 a0002c0002t0007g0118 a0002c0002t0007g0216	2	221	0.0091	-18	c.232 others(35): Show c.232-9811_232-9794delACCCCCCCCCACCCCCCC	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	2/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44294249	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0061 a0003c0003t0002g0061	1	221	0.0045	-18	c.231 others(37): Show c.231+18301_231+18318delACACACACACACACACAC	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	2/14			chrX	TogoVar
EFL1_chr15_82125233_82267734	82185169	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02273.hp2 HG02895.hp1 others(1): Show HG02145.hp1 HG02273.hp2 HG02895.hp1 HG02897.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0188 a0004c0006t0001g0189 a0004c0006t0001g0191 others(1): Show a0004c0006t0001g0188 a0004c0006t0001g0189 a0004c0006t0001g0191 a0004c0006t0001g0192	4	368	0.0109	-18	c.175 others(39): Show c.1751-21203_1751-21186delCACACACACACACACACA	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFNA1_chr1_155122876_155139899	155129539	ACACACAC others(11): Show ACACACACACGCACACCCT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	350	0.0029	-18	c.92+ others(33): Show c.92+1471_92+1488delCACACACACGCACACCCT	EFNA1	ENSG00000169242.12	transcript	ENST00000368407.8	protein_coding	1/4			chr1	TogoVar
EFNA5_chr5_107371894_107675937	107482808	CTCTCTGT others(11): Show CTCTCTGTCTCTCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0140 a0001c0001t0054g0140	1	190	0.0053	-18	c.126 others(37): Show c.126-55317_126-55300delCAGAGAGAGAGACAGAGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107482856	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01074.hp1 others(4): Show HG00099.hp2 HG00738.hp2 HG01074.hp1 HG01175.hp1 HG03471.hp2 HG03486.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0029 a0001c0001t0043 a0001c0001t0097	a0001c0001t0002g0069 a0001c0001t0002g0120 a0001c0001t0003g0183 others(4): Show a0001c0001t0002g0069 a0001c0001t0002g0120 a0001c0001t0003g0183 a0001c0001t0017g0180 a0001c0001t0029g0071 a0001c0001t0043g0171 a0001c0001t0097g0027	7	190	0.0368	-18	c.126 others(37): Show c.126-55365_126-55348delTATAGAGAGAGAGAGAGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107482858	CTCTCTCT others(11): Show CTCTCTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp1 HG02723.hp1 others(9): Show HG01243.hp1 HG01496.hp1 HG02723.hp1 HG02818.hp1 HG02895.hp2 HG02965.hp2 HG03491.hp2 NA18982.hp1 NA19000.hp1 NA19005.hp2 NA19043.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0035 a0001c0001t0036 a0001c0001t0061 a0001c0001t0093	a0001c0001t0003g0032 a0001c0001t0004g0040 a0001c0001t0004g0073 others(9): Show a0001c0001t0003g0032 a0001c0001t0004g0040 a0001c0001t0004g0073 a0001c0001t0006g0033 a0001c0001t0010g0141 a0001c0001t0011g0107 a0001c0001t0014g0016 a0001c0001t0018g0110 a0001c0001t0035g0167 a0001c0001t0036g0102 a0001c0001t0061g0013 a0001c0001t0093g0058	12	190	0.0632	-18	c.126 others(37): Show c.126-55367_126-55350delTATATAGAGAGAGAGAGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107482860	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00438.hp2 others(25): Show HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01243.hp2 HG01255.hp1 HG01934.hp1 HG01978.hp1 HG02109.hp1 HG02293.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02896.hp2 HG03491.hp1 NA18950.hp2 NA18965.hp2 NA18983.hp1 NA18994.hp2 NA19010.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0025 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0046 a0001c0001t0065 a0001c0001t0071 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0084 a0001c0001t0087 a0001c0001t0088 a0001c0001t0092 a0001c0001t0100	a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0136 others(25): Show a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0002g0029 a0001c0001t0002g0056 a0001c0001t0004g0052 a0001c0001t0007g0047 a0001c0001t0010g0050 a0001c0001t0015g0122 a0001c0001t0016g0053 a0001c0001t0016g0123 a0001c0001t0024g0046 a0001c0001t0025g0164 a0001c0001t0040g0186 a0001c0001t0041g0172 a0001c0001t0044g0082 a0001c0001t0046g0037 a0001c0001t0065g0048 a0001c0001t0071g0083 a0001c0001t0077g0063 a0001c0001t0078g0096 a0001c0001t0080g0106 a0001c0001t0081g0093 a0001c0001t0084g0163 a0001c0001t0087g0077 a0001c0001t0088g0010 a0001c0001t0092g0023 a0001c0001t0100g0190	28	190	0.1474	-18	c.126 others(37): Show c.126-55369_126-55352delTATATATAGAGAGAGAGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107482862	CTCTCTCT others(11): Show CTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp1 HG01361.hp1 others(6): Show HG01106.hp1 HG01109.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG02155.hp2 HG02273.hp2 HG02572.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0021 a0001c0001t0024 a0001c0001t0033 a0001c0001t0069 a0001c0001t0094	a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0002g0152 others(6): Show a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0002g0152 a0001c0001t0012g0079 a0001c0001t0021g0118 a0001c0001t0024g0138 a0001c0001t0033g0003 a0001c0001t0069g0015 a0001c0001t0094g0116	9	190	0.0474	-18	c.126 others(37): Show c.126-55371_126-55354delTATATATATAGAGAGAGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107606538	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0015 a0001c0001t0069g0015	1	190	0.0053	-18	c.125 others(37): Show c.125+63933_125+63950delGTGTGTGTGTGTGTGTGT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107631256	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02818.hp1 NA18522.hp2 HG01243.hp2 HG02818.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0046 a0001c0001t0004 a0001c0001t0011 a0001c0001t0046	a0001c0001t0004g0040 a0001c0001t0011g0038 a0001c0001t0046g0037 a0001c0001t0004g0040 a0001c0001t0011g0038 a0001c0001t0046g0037	3	190	0.0158	-18	c.125 others(37): Show c.125+39215_125+39232delGTGTGTGTGTGTGTGTGT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107660261	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02818.hp1 NA18522.hp2 HG02055.hp1 HG02818.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0090 a0001c0001t0004 a0001c0001t0011 a0001c0001t0090	a0001c0001t0004g0040 a0001c0001t0011g0038 a0001c0001t0090g0039 a0001c0001t0004g0040 a0001c0001t0011g0038 a0001c0001t0090g0039	3	190	0.0158	-18	c.125 others(37): Show c.125+10210_125+10227delATATATATATATATATAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNB1_chrX_68824021_68847160	68831504	CGTTGTGA others(11): Show CGTTGTGAAGTGCTCAGTG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00642.hp1 others(30): Show HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01361.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02109.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0042 a0001c0001t0045 a0001c0001t0049	a0001c0001t0002g0043 a0001c0001t0002g0127 a0001c0001t0003g0007 others(17): Show a0001c0001t0002g0043 a0001c0001t0002g0127 a0001c0001t0003g0007 a0001c0001t0003g0023 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0128 a0001c0001t0004g0024 a0001c0001t0004g0126 a0001c0001t0005g0007 a0001c0001t0007g0022 a0001c0001t0007g0041 a0001c0001t0007g0042 a0001c0001t0007g0122 a0001c0001t0009g0024 a0001c0001t0013g0025 a0001c0001t0013g0129 a0001c0001t0042g0025 a0001c0001t0045g0023 a0001c0001t0049g0123	33	335	0.0985	-18	c.128 others(35): Show c.128+1636_128+1653delGGTTGTGAAGTGCTCAGT	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
EFNB1_chrX_68824021_68847160	68838160	TGTGTGTG others(11): Show TGTGTGTGTGTGTGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02559.hp2 others(4): Show HG01884.hp2 HG02258.hp1 HG02559.hp2 HG03098.hp1 HG03195.hp2 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0001 a0001c0001t0006 a0001c0001t0011	a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0115 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0115 a0001c0001t0006g0015 a0001c0001t0011g0038	7	335	0.0209	-18	c.129 others(33): Show c.129-455_129-438delTGTGTGTGTGTGCGCGCG	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
EFR3A_chr8_131899093_132018642	132008846	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02071.hp2 HG00609.hp1 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	2	412	0.0049	-18	c.236 others(37): Show c.2361-1933_2361-1916delAAAAAAAAAAAAAAAAAA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
EFR3A_chr8_131899093_132018642	132010405	GAGATATA others(11): Show GAGATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01891.hp1 HG03098.hp2 HG01099.hp2 HG01891.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	412	0.0073	-18	c.236 others(35): Show c.2361-383_2361-366delGATATATATATATATATA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
EFR3A_chr8_131899093_132018642	132010407	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0002 a0007c0016t0002	a0007c0016t0002g0317 a0007c0016t0002g0317	1	412	0.0024	-18	c.236 others(35): Show c.2361-357_2361-340delTATATATATATATATATA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
EFR3B_chr2_25037076_25164135	25124277	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG02976.hp2 others(1): Show HG01243.hp1 HG02451.hp2 HG02976.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0049 a0001c0001t0051 a0001c0001t0019 a0001c0001t0049 a0001c0001t0051	a0001c0001t0019g0123 a0001c0001t0019g0124 a0001c0001t0049g0059 others(1): Show a0001c0001t0019g0123 a0001c0001t0019g0124 a0001c0001t0049g0059 a0001c0001t0051g0125	4	306	0.0131	-18	c.485 others(35): Show c.485+2521_485+2538delTGTGTGTGTGTGTGTGTG	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFR3B_chr2_25037076_25164135	25128960	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0045 a0003c0011t0045	a0003c0011t0045g0272 a0003c0011t0045g0272	1	306	0.0033	-18	c.635 others(33): Show c.635+652_635+669delAAAAAAAAAAAAAAAAAA	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFR3B_chr2_25037076_25164135	25129343	CGGGGGCG others(11): Show CGGGGGCGGGGCGTGGGGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02970.hp2 NA20300.hp1 HG01243.hp1 HG02970.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0048 a0001c0001t0051 a0001c0003t0027 a0001c0001t0048 a0001c0001t0051 a0001c0003t0027	a0001c0001t0048g0218 a0001c0001t0051g0125 a0001c0003t0027g0184 a0001c0001t0048g0218 a0001c0001t0051g0125 a0001c0003t0027g0184	3	306	0.0098	-18	c.636 others(33): Show c.636-627_636-610delGCGGGGCGTGGGGTGGGG	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EGFL6_chrX_13564601_13638575	13577296	TTTTATAT others(11): Show TTTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp2 HG03195.hp2 others(2): Show HG01891.hp1 HG02630.hp2 HG03195.hp2 HG03453.hp2 NA19030.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0008 a0002c0003 others(1): Show a0001c0001 a0001c0008 a0002c0003 a0012c0011	a0001c0001t0002 a0001c0008t0001 a0002c0003t0004 others(1): Show a0001c0001t0002 a0001c0008t0001 a0002c0003t0004 a0012c0011t0004	a0001c0001t0002g0038 a0001c0008t0001g0295 a0002c0003t0004g0051 others(2): Show a0001c0001t0002g0038 a0001c0008t0001g0295 a0002c0003t0004g0051 a0002c0003t0004g0160 a0012c0011t0004g0054	5	302	0.0166	-18	c.74+ others(33): Show c.74+7363_74+7380delTTATATATATATATATAT	EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
EGFL7_chr9_136657916_136677678	136662481	CCAAGCTC others(11): Show CCAAGCTCCCGTGCTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0016 a0002c0002t0011g0016	1	432	0.0023	-18	c.-97 others(27): Show c.-979_-962delCAAGCTCCCGTGCTGTGT	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		434		chr9	TogoVar
EGFLAM_chr5_38253559_38470480	38349952	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0005 a0005c0005t0001g0005	1	190	0.0053	-18	c.292 others(33): Show c.292-531_292-514delCACACACACACACACACA	EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
EGFLAM_chr5_38253559_38470480	38357299	CCAGGCAA others(11): Show CCAGGCAATGGACCCTCAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0012	a0003c0003t0012g0048 a0003c0003t0012g0048	1	190	0.0053	-18	c.545 others(35): Show c.545+4971_545+4988delGGCAATGGACCCTCATCA	EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
EGFR_chr7_55014017_55216628	55027989	AAAATATA others(11): Show AAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02257.hp1 others(1): Show HG01884.hp1 HG02145.hp1 HG02257.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0018 a0001c0005t0003 a0001c0001t0018 a0001c0005t0003	a0001c0001t0018g0012 a0001c0001t0018g0013 a0001c0001t0018g0014 others(1): Show a0001c0001t0018g0012 a0001c0001t0018g0013 a0001c0001t0018g0014 a0001c0005t0003g0009	4	250	0.0160	-18	c.88+ others(33): Show c.88+8626_88+8643delAATATATATATATATATA	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGF_chr4_109907883_110018766	109919287	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG02015.hp1 others(38): Show HG00609.hp2 HG00621.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp2 HG02155.hp2 HG02735.hp1 HG02738.hp1 HG03017.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03831.hp1 HG04204.hp1 NA18612.hp1 NA18939.hp1 NA18945.hp1 NA18947.hp1 NA18951.hp1 NA18953.hp1 NA18962.hp2 NA18965.hp2 NA18968.hp1 NA18971.hp2 NA18978.hp1 NA18994.hp2 NA18998.hp1 NA19002.hp2 NA19004.hp2 NA19009.hp2 NA19058.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19076.hp2 NA19091.hp2	a0001 a0003 a0021 a0001 a0003 a0021	a0001c0001 a0001c0016 a0003c0003 others(1): Show a0001c0001 a0001c0016 a0003c0003 a0021c0031	a0001c0001t0002 a0001c0001t0004 a0001c0016t0002 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0016t0002 a0001c0016t0006 a0003c0003t0005 a0003c0003t0008 a0003c0003t0026 a0021c0031t0005	a0001c0001t0002g0072 a0001c0001t0004g0019 a0001c0016t0002g0039 others(37): Show a0001c0001t0002g0072 a0001c0001t0004g0019 a0001c0016t0002g0039 a0001c0016t0006g0023 a0003c0003t0005g0002 a0003c0003t0005g0003 a0003c0003t0005g0014 a0003c0003t0005g0017 a0003c0003t0005g0018 a0003c0003t0005g0020 a0003c0003t0005g0021 a0003c0003t0005g0022 a0003c0003t0005g0024 a0003c0003t0005g0026 a0003c0003t0005g0028 a0003c0003t0005g0030 a0003c0003t0005g0031 a0003c0003t0005g0032 a0003c0003t0005g0033 a0003c0003t0005g0035 a0003c0003t0005g0036 a0003c0003t0005g0037 a0003c0003t0005g0038 a0003c0003t0005g0041 a0003c0003t0005g0042 a0003c0003t0005g0043 a0003c0003t0005g0045 a0003c0003t0005g0048 a0003c0003t0008g0002 a0003c0003t0008g0025 a0003c0003t0008g0027 a0003c0003t0008g0034 a0003c0003t0008g0040 a0003c0003t0008g0044 a0003c0003t0008g0046 a0003c0003t0008g0047 a0003c0003t0008g0373 a0003c0003t0026g0015 a0003c0003t0026g0016 a0021c0031t0005g0029	41	388	0.1057	-18	c.127 others(35): Show c.127+5862_127+5879delTCTCTCTCTCTCTCTCTC	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGLN1_chr1_231358756_231427287	231359053	ATTATATA others(11): Show ATTATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG03195.hp1 NA18906.hp1 HG02970.hp2 HG03195.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0114 a0002c0002t0005g0115 a0002c0002t0005g0119 a0002c0002t0005g0114 a0002c0002t0005g0115 a0002c0002t0005g0119	3	338	0.0089	-18	c.73 others(29): Show c.7340_*7357delATATATATATATATATAA	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding		4702		chr1	TogoVar
EGLN1_chr1_231358756_231427287	231359054	TTATATAT others(11): Show TTATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01952.hp2 HG03688.hp1 others(8): Show HG01257.hp2 HG01952.hp2 HG03688.hp1 NA18522.hp1 NA18939.hp1 NA18948.hp1 NA18968.hp1 NA19011.hp2 NA19074.hp1 NA19081.hp2 NA19089.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0005c0005t0002	a0001c0001t0001g0005 a0001c0001t0001g0230 a0001c0001t0001g0250 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0230 a0001c0001t0001g0250 a0001c0001t0001g0309 a0001c0001t0002g0269 a0001c0001t0002g0278 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0003g0002 a0005c0005t0002g0010	11	338	0.0325	-18	c.73 others(29): Show c.7339_*7356delTATATATATATATATATA	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding		4701		chr1	TogoVar
EGLN1_chr1_231358756_231427287	231359093	TATATATA others(11): Show TATATATATATATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0305 a0001c0001t0011g0305	1	338	0.0030	-18	c.73 others(29): Show c.7300_*7317delTTATATATATATATATAT	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding		4662		chr1	TogoVar
EGLN1_chr1_231358756_231427287	231412011	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	338	0.0030	-18	c.891 others(35): Show c.891+8969_891+8986delTTTTTTTTTTTTTTTTTT	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding	1/4			chr1	TogoVar
EHBP1_chr2_62700713_63051487	62820737	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	198	0.0051	-18	c.313 others(35): Show c.313-5323_313-5306delATATATATATATATATAT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62830153	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp1 HG02040.hp2 others(8): Show HG01175.hp2 HG01257.hp1 HG02040.hp2 HG02109.hp2 HG02280.hp1 HG02559.hp2 HG02886.hp2 HG03017.hp2 HG03098.hp2 HG03540.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 others(8): Show a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0185 a0001c0001t0005g0066	11	198	0.0556	-18	c.495 others(33): Show c.495-840_495-823delCACACACACACACACACA	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62975887	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	198	0.0051	-18	c.246 others(37): Show c.2461-3269_2461-3252delCACACACACACACACACA	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	63026294	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	198	0.0051	-18	c.310 others(39): Show c.3104-11207_3104-11190delGTGTGTGTGTGTGTGTGT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

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