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
ECT2_chr3_172745726_172826474	172776191	GTTTTTTC others(2): Show GTTTTTTCTT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG02132.hp2 others(34): Show HG00621.hp2 HG00673.hp1 HG02132.hp2 HG02523.hp1 HG02622.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18942.hp2 NA18946.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp1 NA18959.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18981.hp1 NA18984.hp2 NA18987.hp1 NA18988.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19005.hp1 NA19054.hp1 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19072.hp2 NA19083.hp2 NA19086.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0029 others(28): Show a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0029 a0001c0001t0003g0214 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0265	37	318	0.1164	-9	c.154 others(28): Show c.1548+2176_1548+2184delCTTTTTTTT	ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
ECT2_chr3_172745726_172826474	172776198	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01255.hp1 HG02486.hp2 others(19): Show HG01192.hp1 HG01255.hp1 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 NA18906.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0005 a0001c0001 a0001c0006 a0004c0005	a0001c0001t0001 a0001c0001t0004 a0001c0006t0004 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0004 a0004c0005t0004	a0001c0001t0001g0109 a0001c0001t0004g0030 a0001c0001t0004g0244 others(18): Show a0001c0001t0001g0109 a0001c0001t0004g0030 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0255 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0006t0004g0251 a0004c0005t0004g0256 a0004c0005t0004g0257	22	318	0.0692	-9	c.154 others(28): Show c.1548+2191_1548+2199delTTTTTTTTT	ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
EDARADD_chr1_236389286_236489930	236405781	CTTTCTTT others(2): Show CTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01891.hp2 HG01975.hp2 others(12): Show HG00597.hp2 HG01891.hp2 HG01975.hp2 HG02055.hp1 HG02683.hp1 HG02717.hp1 HG03209.hp2 HG03710.hp1 HG04184.hp1 NA18939.hp1 NA18967.hp1 NA18970.hp1 NA18975.hp2 NA19082.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0003t0001 a0001c0003t0002 a0001c0004t0005 a0002c0002t0004 a0002c0002t0017	a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 others(12): Show a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0004g0091 a0001c0001t0010g0088 a0001c0003t0001g0037 a0001c0003t0002g0038 a0001c0004t0005g0092 a0002c0002t0004g0270 a0002c0002t0017g0233	15	294	0.0510	-9	c.62- others(24): Show c.62-3427_62-3419delCTTTTCTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDAR_chr2_108889471_108994220	108890232	CTTTTTTT others(2): Show CTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00738.hp1 others(33): Show HG00099.hp1 HG00408.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01168.hp1 HG01169.hp2 HG01358.hp1 HG01516.hp1 HG01891.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG03098.hp1 HG03492.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 NA18945.hp1 NA18970.hp1 NA18974.hp2 NA18984.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA19011.hp2 NA19240.hp1 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0005c0012	a0001c0001t0002 a0001c0002t0004 a0001c0002t0007 others(5): Show a0001c0001t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0017 a0001c0004t0003 a0005c0012t0004	a0001c0001t0002g0031 a0001c0001t0002g0092 a0001c0001t0002g0211 others(33): Show a0001c0001t0002g0031 a0001c0001t0002g0092 a0001c0001t0002g0211 a0001c0002t0004g0035 a0001c0002t0004g0079 a0001c0002t0004g0086 a0001c0002t0004g0087 a0001c0002t0004g0095 a0001c0002t0004g0102 a0001c0002t0004g0110 a0001c0002t0004g0111 a0001c0002t0004g0115 a0001c0002t0004g0117 a0001c0002t0004g0120 a0001c0002t0004g0154 a0001c0002t0004g0155 a0001c0002t0004g0156 a0001c0002t0004g0157 a0001c0002t0004g0172 a0001c0002t0004g0180 a0001c0002t0004g0185 a0001c0002t0004g0197 a0001c0002t0007g0059 a0001c0002t0007g0060 a0001c0002t0007g0080 a0001c0002t0007g0082 a0001c0002t0007g0145 a0001c0002t0007g0146 a0001c0002t0009g0114 a0001c0002t0012g0010 a0001c0002t0012g0103 a0001c0002t0012g0124 a0001c0002t0012g0128 a0001c0002t0017g0012 a0001c0004t0003g0101 a0005c0012t0004g0113	36	226	0.1593	-9	c.66 others(20): Show c.6666_*6674delAAAAAAAAA	EDAR	ENSG00000135960.10	transcript	ENST00000258443.7	protein_coding		4238		chr2	TogoVar
EDA_chrX_69611113_70044472	69782366	TAAAAAAA others(2): Show TAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00639.hp1 others(26): Show HG00099.hp2 HG00280.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG02080.hp2 HG02572.hp1 HG02698.hp1 HG02735.hp1 HG02976.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 NA18906.hp1 NA19240.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0001g0097 a0001c0001t0001g0201 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0097 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0002g0038 a0001c0001t0002g0076 a0001c0001t0002g0202 a0001c0001t0002g0217 a0001c0001t0003g0200 a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0005g0206 a0001c0001t0009g0216	29	226	0.1283	-9	c.396 others(30): Show c.396+165680_396+165688delAAAAAAAAA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69895411	CACACACA others(2): Show CACACACACA	C C	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	226	0.0044	-9	c.397 others(28): Show c.397-61615_397-61607delACACACACA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7			chrX	TogoVar
EDA_chrX_69611113_70044472	69910417	GTGTGTGT others(2): Show GTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	226	0.0044	-9	c.397 others(28): Show c.397-46608_397-46600delGTGTGTGTT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDEM1_chr3_5182707_5224958	5223716	CTTTTTTT others(2): Show CTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp1 others(96): Show HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02155.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG03017.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03704.hp1 HG03942.hp2 HG04184.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19064.hp1 NA19070.hp2 NA19086.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0014 others(1): Show a0001c0001 a0001c0006 a0001c0014 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0043 a0001c0001t0056 a0001c0001t0057 a0001c0001t0062 a0001c0006t0002 a0001c0014t0037 a0002c0003t0001 a0002c0003t0003	a0001c0001t0001g0037 a0001c0001t0001g0115 a0001c0001t0001g0127 others(73): Show a0001c0001t0001g0037 a0001c0001t0001g0115 a0001c0001t0001g0127 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0018 a0001c0001t0002g0026 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0002g0066 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0161 a0001c0001t0002g0168 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0253 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0021 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0120 a0001c0001t0003g0129 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0138 a0001c0001t0003g0170 a0001c0001t0003g0175 a0001c0001t0003g0179 a0001c0001t0006g0008 a0001c0001t0008g0011 a0001c0001t0008g0022 a0001c0001t0008g0043 a0001c0001t0008g0049 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0008g0054 a0001c0001t0010g0006 a0001c0001t0010g0011 a0001c0001t0010g0045 a0001c0001t0013g0006 a0001c0001t0013g0011 a0001c0001t0013g0050 a0001c0001t0043g0008 a0001c0001t0056g0044 a0001c0001t0057g0048 a0001c0001t0062g0003 a0001c0006t0002g0163 a0001c0014t0037g0065 a0002c0003t0001g0002 a0002c0003t0001g0034 a0002c0003t0003g0002 a0002c0003t0003g0033	99	374	0.2647	-9	c.77 others(20): Show c.7799_*7807delTTTTTTTTT	EDEM1	ENSG00000134109.11	transcript	ENST00000256497.9	protein_coding		3759		chr3	TogoVar
EDEM2_chr20_35110364_35152336	35148711	TCAAAAAA others(2): Show TCAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02040.hp2 others(27): Show HG01109.hp1 HG01891.hp2 HG02040.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG04199.hp2 NA18747.hp2 NA19030.hp1 NA19059.hp2 NA19063.hp2 NA19081.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0037 a0001c0001t0001g0038 others(17): Show a0001c0001t0001g0004 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0002t0001g0003 a0001c0002t0001g0018 a0001c0002t0001g0141 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0005t0001g0182	30	332	0.0904	-9	c.-14 others(20): Show c.-1462_-1454delTTTTTTTTG	EDEM2	ENSG00000088298.13	transcript	ENST00000374492.8	protein_coding		1376		chr20	TogoVar
EDIL3_chr5_83935554_84389880	84002298	AGCCATAC others(2): Show AGCCATACGT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG01891.hp2 others(13): Show HG00741.hp1 HG01175.hp2 HG01891.hp2 HG02145.hp1 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03130.hp2 HG03471.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0003t0001	a0001c0001t0001g0070 a0001c0001t0001g0097 a0001c0001t0002g0034 others(13): Show a0001c0001t0001g0070 a0001c0001t0001g0097 a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0002g0121 a0001c0001t0003g0104 a0001c0001t0004g0055 a0001c0001t0004g0124 a0001c0001t0005g0148 a0001c0002t0001g0066 a0001c0002t0004g0113 a0001c0002t0005g0032 a0001c0002t0005g0033 a0001c0003t0001g0058 a0001c0003t0001g0083 a0001c0003t0001g0150	16	158	0.1013	-9	c.113 others(30): Show c.1138-38947_1138-38939delACGTATGGC	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84020761	GAGCATAG others(2): Show GAGCATAGTT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03486.hp1 HG03098.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0078 a0001c0003t0003g0073 a0001c0001t0003g0078 a0001c0003t0003g0073	2	158	0.0127	-9	c.113 others(30): Show c.1137+39530_1137+39538delAACTATGCT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84034800	AGTAATTT others(2): Show AGTAATTTGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02970.hp1 HG03130.hp1 others(1): Show HG01109.hp1 HG02970.hp1 HG03130.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0020	a0001c0001t0001g0035 a0001c0001t0003g0103 a0001c0001t0006g0151 others(1): Show a0001c0001t0001g0035 a0001c0001t0003g0103 a0001c0001t0006g0151 a0001c0001t0020g0158	4	158	0.0253	-9	c.113 others(30): Show c.1137+25491_1137+25499delCCAAATTAC	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84080115	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01167.hp1 HG01243.hp1 others(27): Show HG00558.hp2 HG01167.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02148.hp2 HG02280.hp1 HG02486.hp1 HG02602.hp1 HG02683.hp1 HG02965.hp1 HG03195.hp2 HG03654.hp1 HG03704.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp2 NA18946.hp2 NA18949.hp2 NA18957.hp2 NA18984.hp1 NA19058.hp1 NA19062.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0003c0005t0015	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0021 others(27): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0001g0147 a0001c0001t0002g0014 a0001c0001t0002g0030 a0001c0001t0002g0076 a0001c0001t0002g0092 a0001c0001t0002g0121 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0003g0063 a0001c0001t0003g0110 a0001c0001t0004g0020 a0001c0001t0005g0107 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0072 a0001c0001t0008g0085 a0001c0002t0001g0143 a0003c0005t0015g0026	30	158	0.1899	-9	c.652 others(28): Show c.652-13518_652-13510delTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	6/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84356885	CTTTCTTT others(2): Show CTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02896.hp1 HG03098.hp1 others(2): Show HG02486.hp2 HG02896.hp1 HG03098.hp1 HG03471.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0018 a0001c0001t0019 a0001c0002t0003 others(2): Show a0001c0001t0018 a0001c0001t0019 a0001c0002t0003 a0001c0003t0005 a0001c0004t0010	a0001c0001t0018g0050 a0001c0001t0019g0155 a0001c0002t0003g0052 others(2): Show a0001c0001t0018g0050 a0001c0001t0019g0155 a0001c0002t0003g0052 a0001c0003t0005g0051 a0001c0004t0010g0156	5	158	0.0317	-9	c.67+ others(26): Show c.67+27414_67+27422delAAAAAGAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EEA1_chr12_92765637_92934295	92786334	GACTTTCA others(2): Show GACTTTCAAT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG03098.hp2 others(3): Show HG02109.hp1 HG02647.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0010 a0001c0011 a0001c0010 a0001c0011	a0001c0010t0006 a0001c0011t0006 a0001c0010t0006 a0001c0011t0006	a0001c0010t0006g0218 a0001c0010t0006g0219 a0001c0010t0006g0220 others(3): Show a0001c0010t0006g0218 a0001c0010t0006g0219 a0001c0010t0006g0220 a0001c0010t0006g0221 a0001c0011t0006g0216 a0001c0011t0006g0222	6	244	0.0246	-9	c.315 others(28): Show c.3150+1524_3150+1532delATTGAAAGT	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	22/28			chr12	TogoVar
EEA1_chr12_92765637_92934295	92898722	TTTTTTTC others(2): Show TTTTTTTCCC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03041.hp1 HG03688.hp2 others(7): Show HG02723.hp1 HG03041.hp1 HG03688.hp2 NA18939.hp2 NA18964.hp1 NA19054.hp2 NA19062.hp2 NA19068.hp2 NA19240.hp2 NA20805.hp1	a0004 a0005 a0004 a0005	a0004c0006 a0005c0007 a0004c0006 a0005c0007	a0004c0006t0008 a0004c0006t0021 a0004c0006t0022 others(1): Show a0004c0006t0008 a0004c0006t0021 a0004c0006t0022 a0005c0007t0008	a0004c0006t0008g0002 a0004c0006t0008g0007 a0004c0006t0008g0011 others(7): Show a0004c0006t0008g0002 a0004c0006t0008g0007 a0004c0006t0008g0011 a0004c0006t0021g0012 a0004c0006t0022g0004 a0005c0007t0008g0003 a0005c0007t0008g0005 a0005c0007t0008g0008 a0005c0007t0008g0009 a0005c0007t0008g0010	10	244	0.0410	-9	c.25- others(24): Show c.25-7010_25-7002delGGGAAAAAA	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	1/28			chr12	TogoVar
EEA1_chr12_92765637_92934295	92912323	TCCTCCCC others(2): Show TCCTCCCCTA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02897.hp1 others(1): Show HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03209.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0014 a0002c0004t0014	a0002c0004t0014g0240 a0002c0004t0014g0241 a0002c0004t0014g0242 others(1): Show a0002c0004t0014g0240 a0002c0004t0014g0241 a0002c0004t0014g0242 a0002c0004t0014g0243	4	244	0.0164	-9	c.24+ others(26): Show c.24+16711_24+16719delTAGGGGAGG	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	1/28			chr12	TogoVar
EEF1E1_chr6_8074395_8107548	8101244	ATATATAT others(2): Show ATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG00738.hp1 others(18): Show HG00408.hp1 HG00609.hp2 HG00738.hp1 HG00741.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01993.hp1 HG02129.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02896.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp2 NA18962.hp1 NA18969.hp2 NA18972.hp2 NA19059.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0255 others(16): Show a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0255 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0293 a0001c0001t0001g0314 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0371 a0002c0002t0001g0224	21	442	0.0475	-9	c.87+ others(24): Show c.87+1182_87+1190delATATATATA	EEF1E1	ENSG00000124802.12	transcript	ENST00000379715.10	protein_coding	1/3			chr6	TogoVar
EEF2K_chr16_22201278_22293738	22224655	AAAGAAAA others(2): Show AAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01891.hp2 HG02109.hp1 others(12): Show HG01167.hp1 HG01891.hp2 HG02109.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02809.hp2 HG02895.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03540.hp2 NA19240.hp2 NA20300.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0002 a0003c0004t0005g0005 a0003c0004t0005g0006 others(11): Show a0003c0004t0005g0002 a0003c0004t0005g0005 a0003c0004t0005g0006 a0003c0004t0005g0007 a0003c0004t0005g0008 a0003c0004t0005g0009 a0003c0004t0005g0010 a0003c0004t0005g0011 a0003c0004t0005g0012 a0003c0004t0005g0013 a0003c0004t0005g0014 a0003c0004t0005g0015 a0003c0004t0005g0016 a0003c0004t0005g0017	15	290	0.0517	-9	c.-76 others(24): Show c.-76-996_-76-988delGAAAAAGAA	EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
EEFSEC_chr3_128148481_128413646	128150619	ATATTCTA others(2): Show ATATTCTATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01496.hp1 HG01516.hp1 others(18): Show HG01255.hp1 HG01496.hp1 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG02109.hp1 HG02148.hp1 HG02273.hp1 HG02602.hp1 HG02615.hp2 HG02886.hp2 HG02896.hp1 HG03017.hp2 HG03195.hp2 HG03486.hp1 HG03669.hp2 HG03831.hp2 HG04204.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0001 a0002c0007t0001 a0001c0002t0001 a0002c0007t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(18): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0063 a0001c0002t0001g0064 a0002c0007t0001g0017 a0002c0007t0001g0021	21	272	0.0772	-9	c.-28 others(20): Show c.-2888_-2880delTATTCTATG	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		2861		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128247786	AGAGGAGA others(2): Show AGAGGAGAAG	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18995.hp1 NA19055.hp2 others(1): Show NA18960.hp1 NA18995.hp1 NA19055.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 others(1): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0004g0078	4	272	0.0147	-9	c.524 others(24): Show c.524+756_524+764delGAGAAGGAG	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
EEIG1_chr9_127935582_127985989	127961291	ATGGGGCA others(2): Show ATGGGGCATG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(252): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18957.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18991.hp1 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(29): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0016 a0001c0002t0027 a0001c0002t0028 a0001c0002t0031 a0001c0003t0004 a0001c0005t0008 a0001c0006t0004 a0001c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(180): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0007g0026 a0001c0001t0007g0103 a0001c0001t0007g0104 a0001c0001t0009g0105 a0001c0001t0009g0106 a0001c0001t0010g0201 a0001c0001t0010g0220 a0001c0001t0011g0031 a0001c0001t0012g0046 a0001c0001t0014g0093 a0001c0001t0015g0047 a0001c0001t0017g0048 a0001c0001t0019g0107 a0001c0001t0020g0166 a0001c0001t0021g0230 a0001c0001t0022g0155 a0001c0001t0023g0156 a0001c0001t0024g0227 a0001c0001t0025g0199 a0001c0001t0026g0154 a0001c0001t0029g0182 a0001c0001t0030g0171 a0001c0001t0032g0239 a0001c0002t0002g0049 a0001c0002t0003g0014 a0001c0002t0003g0028 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0161 a0001c0002t0003g0213 a0001c0002t0003g0237 a0001c0002t0005g0006 a0001c0002t0005g0102 a0001c0002t0006g0025 a0001c0002t0006g0098 a0001c0002t0006g0100 a0001c0002t0006g0101 a0001c0002t0016g0099 a0001c0002t0027g0131 a0001c0002t0028g0112 a0001c0002t0031g0238 a0001c0003t0004g0010 a0001c0003t0004g0027 a0001c0003t0004g0114 a0001c0003t0004g0115 a0001c0003t0004g0116 a0001c0003t0004g0118 a0001c0003t0004g0119 a0001c0003t0004g0211 a0001c0005t0008g0110 a0001c0005t0008g0111 a0001c0005t0008g0113 a0001c0006t0004g0117 a0001c0007t0001g0204	255	342	0.7456	-9	c.147 others(26): Show c.147-7375_147-7367delCATGCCCCA	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding	1/10			chr9	TogoVar
EEIG2_chr1_108555100_108644322	108560122	AGGCGGCG others(2): Show AGGCGGCGGC	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01361.hp2 HG01496.hp2 HG01928.hp1 others(22): Show HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02148.hp2 HG02630.hp1 HG03516.hp2 NA18940.hp1 NA18953.hp2 NA18964.hp1 NA18967.hp1 NA18975.hp2 NA18977.hp2 NA18994.hp1 NA19001.hp1 NA19003.hp1 NA19010.hp1 NA19056.hp2 NA19081.hp2 NA19084.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0022 a0001c0001t0023 a0001c0001t0004 a0001c0001t0022 a0001c0001t0023	a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0202 others(22): Show a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0202 a0001c0001t0004g0207 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0022g0173 a0001c0001t0023g0174	25	272	0.0919	-9	c.-29 others(18): Show c.-293_-285delGCGGCGGCG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/11	285	INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108580681	AAATTCCC others(2): Show AAATTCCCTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01069.hp2 HG01070.hp1 others(85): Show HG00408.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03195.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG04199.hp2 NA18747.hp1 NA18940.hp1 NA18943.hp2 NA18944.hp2 NA18953.hp2 NA18964.hp1 NA18967.hp1 NA18971.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18987.hp1 NA18989.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19001.hp1 NA19003.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp2 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(81): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0176 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0202 a0001c0001t0004g0207 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0007g0004 a0001c0001t0007g0183 a0001c0001t0007g0189 a0001c0001t0007g0234 a0001c0001t0007g0237 a0001c0001t0010g0177 a0001c0001t0010g0178 a0001c0001t0010g0179 a0001c0001t0010g0180 a0001c0001t0010g0181 a0001c0001t0012g0153 a0001c0001t0012g0154 a0001c0001t0017g0194 a0001c0001t0019g0235 a0001c0001t0019g0236 a0001c0001t0020g0190 a0001c0001t0020g0195 a0001c0001t0021g0158 a0001c0001t0021g0159 a0001c0001t0037g0184 a0001c0001t0039g0182 a0001c0001t0040g0210	88	272	0.3235	-9	c.138 others(28): Show c.138-19882_138-19874delTTCCCTTAA	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB12_chr3_129396321_129433636	129400120	CTTTTTTT others(2): Show CTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01515.hp1 others(11): Show HG01069.hp1 HG01071.hp2 HG01515.hp1 HG02257.hp1 HG02698.hp1 HG02735.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03942.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp2 NA18973.hp2	a0001 a0005 a0012 others(1): Show a0001 a0005 a0012 a0017	a0001c0001 a0005c0006 a0012c0012 others(1): Show a0001c0001 a0005c0006 a0012c0012 a0017c0019	a0001c0001t0001 a0005c0006t0001 a0012c0012t0001 others(1): Show a0001c0001t0001 a0005c0006t0001 a0012c0012t0001 a0017c0019t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0160 others(9): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0005c0006t0001g0206 a0012c0012t0001g0181 a0012c0012t0001g0182 a0017c0019t0001g0151	14	386	0.0363	-9	c.14 others(20): Show c.1464_*1472delAAAAAAAAA	EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding		1200		chr3	TogoVar
EFCAB5_chr17_29936634_30113452	30026961	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01099.hp2 HG01123.hp1 others(27): Show HG00280.hp2 HG01099.hp2 HG01123.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp1 HG01952.hp2 HG01978.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02738.hp1 HG02809.hp1 HG02896.hp2 HG03139.hp1 HG03471.hp2 HG03669.hp2 HG03942.hp1 HG04199.hp1 NA18940.hp2 NA18964.hp1 NA18993.hp1 NA18998.hp1 NA19000.hp2 NA19011.hp1 NA19054.hp1 NA19064.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0122 a0001c0001t0001g0146 a0001c0001t0001g0147 others(27): Show a0001c0001t0001g0122 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0012t0001g0187 a0001c0012t0001g0196	30	248	0.1210	-9	c.104 others(28): Show c.1045-7234_1045-7226delTTTTTTTTT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43599509	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00597.hp1 others(25): Show HG00140.hp2 HG00438.hp2 HG00597.hp1 HG01074.hp1 HG01255.hp1 HG01516.hp1 HG01517.hp1 HG01943.hp2 HG02155.hp2 HG02451.hp1 HG02683.hp1 HG02698.hp1 HG03654.hp2 HG03942.hp2 NA18950.hp2 NA18951.hp2 NA18972.hp1 NA18974.hp2 NA18979.hp1 NA19004.hp1 NA19009.hp2 NA19057.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0012 a0018 a0019	a0001c0013 a0001c0035 a0002c0002 others(5): Show a0001c0013 a0001c0035 a0002c0002 a0002c0021 a0003c0003 a0012c0016 a0018c0044 a0019c0043	a0001c0013t0001 a0001c0035t0001 a0002c0002t0001 others(6): Show a0001c0013t0001 a0001c0035t0001 a0002c0002t0001 a0002c0021t0001 a0003c0003t0001 a0012c0016t0001 a0012c0016t0006 a0018c0044t0001 a0019c0043t0001	a0001c0013t0001g0187 a0001c0035t0001g0235 a0002c0002t0001g0141 others(25): Show a0001c0013t0001g0187 a0001c0035t0001g0235 a0002c0002t0001g0141 a0002c0021t0001g0250 a0003c0003t0001g0072 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0186 a0003c0003t0001g0206 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0284 a0012c0016t0001g0274 a0012c0016t0006g0266 a0018c0044t0001g0221 a0019c0043t0001g0224	28	290	0.0966	-9	c.287 others(26): Show c.2876+551_2876+559delTTTTTTTTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	23/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43623914	AAAAAAAA others(2): Show AAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02293.hp2 HG02818.hp2 others(13): Show HG01175.hp2 HG02293.hp2 HG02818.hp2 HG03017.hp1 HG03209.hp1 HG03834.hp2 HG03942.hp1 HG04228.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18967.hp1 NA19011.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp2	a0001 a0004 a0031 a0001 a0004 a0031	a0001c0001 a0001c0027 a0004c0012 others(1): Show a0001c0001 a0001c0027 a0004c0012 a0031c0022	a0001c0001t0001 a0001c0001t0003 a0001c0027t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0027t0001 a0004c0012t0001 a0031c0022t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(13): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0285 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0027t0001g0075 a0004c0012t0001g0094 a0004c0012t0001g0095 a0031c0022t0001g0237	16	290	0.0552	-9	c.246 others(28): Show c.2465+2524_2465+2532delCTTTTTTTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43662159	AAATAATA others(2): Show AAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02004.hp1 HG02293.hp1 others(5): Show HG01433.hp1 HG02004.hp1 HG02293.hp1 HG02895.hp1 HG02897.hp2 HG03516.hp1 NA18906.hp1 NA18950.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0001 a0003c0003 a0006c0006 others(1): Show a0001c0001 a0003c0003 a0006c0006 a0007c0007	a0001c0001t0001 a0003c0003t0001 a0006c0006t0001 others(2): Show a0001c0001t0001 a0003c0003t0001 a0006c0006t0001 a0007c0007t0001 a0007c0007t0002	a0001c0001t0001g0087 a0003c0003t0001g0184 a0006c0006t0001g0279 others(5): Show a0001c0001t0001g0087 a0003c0003t0001g0184 a0006c0006t0001g0279 a0006c0006t0001g0280 a0007c0007t0001g0154 a0007c0007t0001g0155 a0007c0007t0002g0004 a0007c0007t0002g0005	8	290	0.0276	-9	c.198 others(28): Show c.1983+4936_1983+4944delATTATTATT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	17/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43690343	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00639.hp2 others(16): Show HG00140.hp2 HG00323.hp2 HG00639.hp2 HG01243.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp2 HG02004.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02683.hp1 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03453.hp1 HG03486.hp2 NA18954.hp1 NA20805.hp2	a0006 a0012 a0032 a0006 a0012 a0032	a0006c0006 a0012c0016 a0032c0042 a0006c0006 a0012c0016 a0032c0042	a0006c0006t0001 a0012c0016t0001 a0012c0016t0006 others(1): Show a0006c0006t0001 a0012c0016t0001 a0012c0016t0006 a0032c0042t0001	a0006c0006t0001g0163 a0006c0006t0001g0257 a0006c0006t0001g0265 others(16): Show a0006c0006t0001g0163 a0006c0006t0001g0257 a0006c0006t0001g0265 a0006c0006t0001g0267 a0006c0006t0001g0268 a0006c0006t0001g0269 a0006c0006t0001g0270 a0006c0006t0001g0271 a0006c0006t0001g0272 a0006c0006t0001g0273 a0006c0006t0001g0276 a0006c0006t0001g0277 a0006c0006t0001g0278 a0006c0006t0001g0279 a0006c0006t0001g0280 a0012c0016t0001g0274 a0012c0016t0001g0281 a0012c0016t0006g0266 a0032c0042t0001g0275	19	290	0.0655	-9	c.103 others(28): Show c.1032-2771_1032-2763delTTTTTTTTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	10/31			chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32935188	CTTTCTTT others(2): Show CTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG02922.hp1 others(4): Show HG02486.hp2 HG02615.hp1 HG02922.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp2 NA18906.hp1	a0002 a0007 a0021 a0002 a0007 a0021	a0002c0011 a0007c0006 a0007c0030 others(1): Show a0002c0011 a0007c0006 a0007c0030 a0021c0061	a0002c0011t0001 a0007c0006t0004 a0007c0030t0004 others(1): Show a0002c0011t0001 a0007c0006t0004 a0007c0030t0004 a0021c0061t0001	a0002c0011t0001g0100 a0002c0011t0001g0244 a0002c0011t0001g0246 others(4): Show a0002c0011t0001g0100 a0002c0011t0001g0244 a0002c0011t0001g0246 a0007c0006t0004g0142 a0007c0030t0004g0127 a0007c0030t0004g0266 a0021c0061t0001g0238	7	284	0.0247	-9	c.279 others(28): Show c.2790+3856_2790+3864delCTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB9_chr5_172189172_172208454	172202332	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02572.hp2 others(3): Show HG01884.hp1 HG02572.hp1 HG02572.hp2 HG03195.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0157 a0001c0001t0001g0015 a0001c0001t0001g0157	6	408	0.0147	-9	c.463 others(24): Show c.463-866_463-858delAAAAAAAAA	EFCAB9	ENSG00000214360.5	transcript	ENST00000398186.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
EFCC1_chr3_128996304_129045742	129025748	CCCCAGGG others(2): Show CCCCAGGGCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00642.hp1 others(43): Show HG00280.hp1 HG00323.hp2 HG00642.hp1 HG00741.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01255.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG01978.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA18906.hp1 NA19007.hp1 NA19043.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0012 others(1): Show a0001 a0003 a0012 a0014	a0001c0001 a0003c0003 a0012c0013 others(1): Show a0001c0001 a0003c0003 a0012c0013 a0014c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0003c0003t0001 a0003c0003t0013 a0012c0013t0001 a0014c0016t0001	a0001c0001t0001g0021 a0001c0001t0001g0037 a0001c0001t0001g0119 others(30): Show a0001c0001t0001g0021 a0001c0001t0001g0037 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0004g0039 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0007g0192 a0001c0001t0007g0193 a0001c0001t0012g0181 a0003c0003t0001g0007 a0003c0003t0001g0008 a0003c0003t0001g0030 a0003c0003t0001g0157 a0003c0003t0001g0168 a0003c0003t0001g0175 a0003c0003t0001g0195 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0212 a0003c0003t0013g0007 a0012c0013t0001g0177 a0014c0016t0001g0008	46	354	0.1299	-9	c.981 others(26): Show c.981-4951_981-4943delAGGGCTCCC	EFCC1	ENSG00000114654.8	transcript	ENST00000683648.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
EFHC2_chrX_44142872_44348672	44152338	CCTGGATT others(2): Show CCTGGATTAT	C C	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0023 a0013c0014t0023	a0013c0014t0023g0191 a0013c0014t0023g0191	1	221	0.0045	-9	c.214 others(28): Show c.2149-3451_2149-3443delATAATCCAG	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	14/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44207792	TCAACAAC others(2): Show TCAACAACAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01192.hp1 HG00140.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0151 a0001c0001t0001g0152	2	221	0.0091	-9	c.175 others(30): Show c.1751+21848_1751+21856delTTGTTGTTG	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44251597	TAAAAAAA others(2): Show TAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	221	0.0045	-9	c.607 others(26): Show c.607-1161_607-1153delTTTTTTTTT	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	4/14			chrX	TogoVar
EFHD1_chr2_232628604_232687776	232631698	AAAAAAAA others(2): Show AAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02622.hp1 HG02630.hp1 others(15): Show HG02109.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03209.hp1 HG03486.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0020 a0001c0001t0021 a0001c0006t0001 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0265 a0001c0001t0003g0266 a0001c0001t0003g0268 others(15): Show a0001c0001t0001g0265 a0001c0001t0003g0266 a0001c0001t0003g0268 a0001c0001t0003g0270 a0001c0001t0003g0275 a0001c0001t0006g0269 a0001c0001t0006g0277 a0001c0001t0006g0278 a0001c0001t0006g0361 a0001c0001t0009g0271 a0001c0001t0009g0273 a0001c0001t0009g0274 a0001c0001t0020g0276 a0001c0001t0021g0272 a0001c0006t0001g0267 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0005g0284	18	382	0.0471	-9	c.-20 others(20): Show c.-2006_-1998delAAAAAAAAC	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding		1905		chr2	TogoVar
EFHD2_chr1_15404888_15435339	15433203	GACGGATC others(2): Show GACGGATCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(164): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18964.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp2 NA19011.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0042 others(129): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0140 a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0075 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0120 a0001c0001t0002g0129 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0151 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0168 a0001c0001t0002g0195 a0001c0001t0002g0201 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0282 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0301 a0001c0001t0003g0001 a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0039 a0001c0001t0003g0047 a0001c0001t0003g0059 a0001c0001t0003g0091 a0001c0001t0003g0107 a0001c0001t0003g0123 a0001c0001t0003g0127 a0001c0001t0003g0145 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0199 a0001c0001t0003g0224 a0001c0001t0003g0273 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0004g0021 a0001c0001t0004g0040 a0001c0001t0004g0110 a0001c0001t0004g0171 a0001c0001t0005g0221 a0001c0001t0011g0253 a0001c0001t0011g0255 a0001c0001t0011g0258 a0001c0001t0012g0233 a0001c0001t0013g0084 a0001c0001t0014g0290 a0001c0001t0018g0119 a0001c0001t0019g0241 a0001c0001t0021g0014 a0001c0001t0022g0125 a0001c0001t0023g0012 a0001c0001t0024g0225 a0001c0001t0025g0232 a0001c0002t0005g0060 a0001c0002t0007g0058 a0001c0002t0007g0063 a0001c0002t0007g0100 a0001c0002t0010g0226 a0001c0002t0010g0227 a0001c0002t0010g0228 a0001c0002t0010g0236 a0003c0004t0001g0296	167	424	0.3939	-9	c.44 others(20): Show c.4480_*4488delACGGATCAC	EFHD2	ENSG00000142634.13	transcript	ENST00000375980.9	protein_coding		2865		chr1	TogoVar
EFNA2_chr19_1280873_1306431	1300241	ATTTTTTT others(2): Show ATTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG01256.hp1 HG01952.hp2 others(7): Show HG00544.hp1 HG01256.hp1 HG01952.hp2 HG02148.hp2 HG02630.hp1 HG02723.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0027 a0001c0001t0053 others(4): Show a0001c0001t0019 a0001c0001t0027 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0073	a0001c0001t0019g0026 a0001c0001t0019g0069 a0001c0001t0019g0128 others(7): Show a0001c0001t0019g0026 a0001c0001t0019g0069 a0001c0001t0019g0128 a0001c0001t0027g0044 a0001c0001t0027g0071 a0001c0001t0053g0126 a0001c0001t0054g0020 a0001c0001t0055g0068 a0001c0001t0056g0056 a0001c0001t0073g0026	10	294	0.0340	-9	c.32 others(18): Show c.323_*331delTTTTTTTTT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding	4/4	323	INFO_REALIGN_3_PRIME	chr19	TogoVar
EFNA5_chr5_107371894_107675937	107384768	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03471.hp2 HG03486.hp2 others(2): Show HG00741.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 others(2): Show a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0062 a0001c0001t0067	a0001c0001t0041g0172 a0001c0001t0042g0007 a0001c0001t0043g0171 others(2): Show a0001c0001t0041g0172 a0001c0001t0042g0007 a0001c0001t0043g0171 a0001c0001t0062g0170 a0001c0001t0067g0175	5	190	0.0263	-9	c.565 others(26): Show c.565+2458_565+2466delAAAAAAAAA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	4/4			chr5	TogoVar
EFNB2_chr13_106484745_106540662	106523788	GAGTCTTC others(2): Show GAGTCTTCTC	G G	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18962.hp2 NA18968.hp2 NA18960.hp1 NA18962.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0002g0196 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0002g0196	3	356	0.0084	-9	c.123 others(28): Show c.123-10985_123-10977delGAGAAGACT	EFNB2	ENSG00000125266.8	transcript	ENST00000646441.1	protein_coding	1/4			chr13	TogoVar
EFR3A_chr8_131899093_132018642	131986388	GTCATTTA others(2): Show GTCATTTAAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(148): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02717.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19055.hp2 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20805.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0012	a0001c0001 a0001c0003 a0001c0018 others(3): Show a0001c0001 a0001c0003 a0001c0018 a0005c0005 a0006c0008 a0012c0015	a0001c0001t0001 a0001c0001t0012 a0001c0001t0020 others(7): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0003t0003 a0001c0003t0016 a0001c0018t0001 a0005c0005t0001 a0006c0008t0002 a0012c0015t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(139): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0074 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0142 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0012g0025 a0001c0001t0012g0028 a0001c0001t0012g0029 a0001c0001t0012g0030 a0001c0001t0020g0205 a0001c0001t0021g0198 a0001c0003t0003g0006 a0001c0003t0003g0007 a0001c0003t0003g0024 a0001c0003t0003g0033 a0001c0003t0003g0035 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0038 a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0044 a0001c0003t0003g0045 a0001c0003t0003g0046 a0001c0003t0003g0047 a0001c0003t0003g0048 a0001c0003t0003g0049 a0001c0003t0003g0050 a0001c0003t0003g0051 a0001c0003t0003g0052 a0001c0003t0003g0053 a0001c0003t0003g0054 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0059 a0001c0003t0003g0060 a0001c0003t0003g0061 a0001c0003t0003g0062 a0001c0003t0003g0063 a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0003g0066 a0001c0003t0003g0067 a0001c0003t0003g0068 a0001c0003t0003g0069 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0003t0003g0072 a0001c0003t0003g0073 a0001c0003t0003g0075 a0001c0003t0003g0076 a0001c0003t0003g0077 a0001c0003t0003g0078 a0001c0003t0003g0079 a0001c0003t0003g0080 a0001c0003t0003g0085 a0001c0003t0003g0086 a0001c0003t0003g0087 a0001c0003t0016g0291 a0001c0003t0016g0343 a0001c0018t0001g0204 a0005c0005t0001g0091 a0005c0005t0001g0092 a0005c0005t0001g0098 a0006c0008t0002g0263 a0006c0008t0002g0264 a0012c0015t0002g0229	151	412	0.3665	-9	c.193 others(26): Show c.1937+138_1937+146delCATTTAATT	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
EFR3B_chr2_25037076_25164135	25039757	ATTTTTTT others(2): Show ATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(87): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01934.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02698.hp2 HG02738.hp2 HG02886.hp1 HG03490.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18948.hp1 NA18952.hp1 NA18954.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18977.hp1 NA18982.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19004.hp1 NA19005.hp2 NA19058.hp1 NA19060.hp2 NA19066.hp2 NA19070.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0002c0012 a0003c0011 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0046 a0001c0002t0001 a0001c0002t0004 a0001c0002t0011 a0001c0002t0020 a0001c0002t0034 a0001c0002t0037 a0001c0003t0006 a0001c0003t0009 a0001c0014t0002 a0002c0012t0050 a0003c0011t0045 a0005c0013t0044	a0001c0001t0001g0155 a0001c0001t0001g0261 a0001c0001t0002g0001 others(87): Show a0001c0001t0001g0155 a0001c0001t0001g0261 a0001c0001t0002g0001 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0235 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0278 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0003g0231 a0001c0001t0003g0265 a0001c0001t0003g0296 a0001c0001t0004g0269 a0001c0001t0005g0276 a0001c0001t0007g0221 a0001c0001t0007g0232 a0001c0001t0007g0234 a0001c0001t0007g0240 a0001c0001t0007g0252 a0001c0001t0007g0305 a0001c0001t0008g0228 a0001c0001t0012g0242 a0001c0001t0013g0022 a0001c0001t0046g0303 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0128 a0001c0002t0001g0220 a0001c0002t0001g0222 a0001c0002t0001g0233 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0241 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0258 a0001c0002t0001g0260 a0001c0002t0001g0280 a0001c0002t0001g0284 a0001c0002t0001g0286 a0001c0002t0001g0289 a0001c0002t0004g0243 a0001c0002t0004g0257 a0001c0002t0004g0273 a0001c0002t0004g0291 a0001c0002t0011g0253 a0001c0002t0011g0277 a0001c0002t0011g0279 a0001c0002t0020g0003 a0001c0002t0020g0004 a0001c0002t0034g0251 a0001c0002t0037g0239 a0001c0003t0006g0230 a0001c0003t0006g0256 a0001c0003t0006g0262 a0001c0003t0006g0270 a0001c0003t0006g0274 a0001c0003t0006g0285 a0001c0003t0009g0225 a0001c0003t0009g0226 a0001c0003t0009g0227 a0001c0003t0009g0263 a0001c0003t0009g0275 a0001c0003t0009g0290 a0001c0003t0009g0292 a0001c0014t0002g0248 a0002c0012t0050g0281 a0003c0011t0045g0272 a0005c0013t0044g0297	90	306	0.2941	-9	c.-25 others(20): Show c.-2555_-2547delTTTTTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding		2318		chr2	TogoVar
EFR3B_chr2_25037076_25164135	25041238	CAAAAAAA others(2): Show CAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG03491.hp2 others(6): Show HG00423.hp1 HG00621.hp2 HG03491.hp2 HG03834.hp2 NA18747.hp1 NA18961.hp1 NA18986.hp1 NA19056.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015	a0001c0001t0003 a0001c0001t0042 a0001c0002t0004 others(3): Show a0001c0001t0003 a0001c0001t0042 a0001c0002t0004 a0001c0003t0006 a0001c0003t0010 a0001c0015t0008	a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0079 others(6): Show a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0042g0075 a0001c0002t0004g0009 a0001c0003t0006g0082 a0001c0003t0010g0081 a0001c0015t0008g0078	9	306	0.0294	-9	c.-10 others(20): Show c.-1074_-1066delAAAAAAAAA	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding		837		chr2	TogoVar
EFR3B_chr2_25037076_25164135	25128960	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp1 others(18): Show HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00639.hp1 HG02015.hp2 HG02135.hp1 HG02257.hp2 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 NA18943.hp1 NA18954.hp2 NA18961.hp1 NA18974.hp1 NA18978.hp1 NA18983.hp1 NA18990.hp2 NA18993.hp2 NA19054.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0028 a0001c0001t0039 a0001c0002t0001 a0001c0002t0011 a0004c0007t0003	a0001c0001t0003g0072 a0001c0001t0003g0079 a0001c0001t0003g0080 others(18): Show a0001c0001t0003g0072 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0086 a0001c0001t0003g0092 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0005g0195 a0001c0001t0005g0207 a0001c0001t0005g0215 a0001c0001t0008g0098 a0001c0001t0008g0113 a0001c0001t0012g0089 a0001c0001t0012g0093 a0001c0001t0028g0197 a0001c0001t0039g0216 a0001c0002t0001g0031 a0001c0002t0011g0042 a0004c0007t0003g0070	21	306	0.0686	-9	c.635 others(24): Show c.635+661_635+669delAAAAAAAAA	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EGFL6_chrX_13564601_13638575	13598558	AGTTGTTG others(2): Show AGTTGTTGTT	A A	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	302	0.0033	-9	c.281 others(26): Show c.281-1392_281-1384delGTTGTTGTT	EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
EGFR_chr7_55014017_55216628	55135840	AATGTATT others(2): Show AATGTATTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG01993.hp1 others(11): Show HG01109.hp2 HG01884.hp2 HG01993.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02818.hp1 HG02922.hp2 HG03209.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(6): Show a0001c0001 a0001c0004 a0001c0005 a0001c0013 a0001c0021 a0001c0022 a0001c0042 a0001c0043 a0001c0044	a0001c0001t0001 a0001c0001t0022 a0001c0001t0028 others(10): Show a0001c0001t0001 a0001c0001t0022 a0001c0001t0028 a0001c0004t0003 a0001c0005t0025 a0001c0013t0024 a0001c0013t0053 a0001c0021t0020 a0001c0022t0001 a0001c0022t0054 a0001c0042t0004 a0001c0043t0001 a0001c0044t0004	a0001c0001t0001g0247 a0001c0001t0022g0015 a0001c0001t0022g0248 others(11): Show a0001c0001t0001g0247 a0001c0001t0022g0015 a0001c0001t0022g0248 a0001c0001t0028g0138 a0001c0004t0003g0195 a0001c0005t0025g0246 a0001c0013t0024g0151 a0001c0013t0053g0135 a0001c0021t0020g0139 a0001c0022t0001g0019 a0001c0022t0054g0212 a0001c0042t0004g0150 a0001c0043t0001g0206 a0001c0044t0004g0143	14	250	0.0560	-9	c.89- others(24): Show c.89-6445_89-6437delATGTATTTT	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	1/27			chr7	TogoVar
EGFR_chr7_55014017_55216628	55203721	GACACACC others(2): Show GACACACCAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00642.hp2 others(46): Show HG00140.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01975.hp1 HG02027.hp1 HG02129.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02559.hp2 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03492.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA19043.hp2 NA19056.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0001c0005 others(9): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0014 a0001c0019 a0001c0021 a0001c0032 a0001c0039 a0002c0008 a0002c0009 a0005c0045	a0001c0001t0003 a0001c0004t0003 a0001c0004t0006 others(26): Show a0001c0001t0003 a0001c0004t0003 a0001c0004t0006 a0001c0004t0008 a0001c0004t0045 a0001c0004t0065 a0001c0005t0003 a0001c0005t0006 a0001c0005t0008 a0001c0005t0013 a0001c0005t0020 a0001c0005t0032 a0001c0007t0003 a0001c0007t0006 a0001c0007t0013 a0001c0007t0046 a0001c0014t0003 a0001c0014t0008 a0001c0014t0020 a0001c0019t0006 a0001c0019t0008 a0001c0021t0003 a0001c0021t0020 a0001c0032t0003 a0001c0039t0006 a0002c0008t0006 a0002c0008t0038 a0002c0009t0008 a0005c0045t0013	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0077 others(45): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0077 a0001c0004t0003g0118 a0001c0004t0006g0018 a0001c0004t0006g0105 a0001c0004t0008g0066 a0001c0004t0008g0067 a0001c0004t0008g0068 a0001c0004t0008g0070 a0001c0004t0008g0073 a0001c0004t0008g0074 a0001c0004t0045g0160 a0001c0004t0065g0069 a0001c0005t0003g0011 a0001c0005t0003g0017 a0001c0005t0003g0038 a0001c0005t0003g0119 a0001c0005t0003g0186 a0001c0005t0006g0051 a0001c0005t0006g0080 a0001c0005t0006g0099 a0001c0005t0006g0102 a0001c0005t0008g0163 a0001c0005t0013g0233 a0001c0005t0020g0168 a0001c0005t0032g0237 a0001c0007t0003g0216 a0001c0007t0006g0059 a0001c0007t0006g0082 a0001c0007t0013g0227 a0001c0007t0013g0228 a0001c0007t0046g0020 a0001c0014t0003g0010 a0001c0014t0003g0095 a0001c0014t0008g0175 a0001c0014t0020g0087 a0001c0019t0006g0096 a0001c0019t0006g0115 a0001c0019t0008g0065 a0001c0021t0003g0090 a0001c0021t0020g0139 a0001c0032t0003g0215 a0001c0039t0006g0005 a0002c0008t0006g0249 a0002c0008t0038g0054 a0002c0009t0008g0125 a0005c0045t0013g0239	49	250	0.1960	-9	c.327 others(28): Show c.3271+1107_3271+1115delCACACCACA	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGLN1_chr1_231358756_231427287	231383057	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01943.hp2 HG02717.hp1 others(3): Show HG00323.hp1 HG01943.hp2 HG02717.hp1 HG02723.hp1 NA19057.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0005	a0001c0001t0001g0186 a0001c0001t0001g0217 a0001c0001t0001g0226 others(3): Show a0001c0001t0001g0186 a0001c0001t0001g0217 a0001c0001t0001g0226 a0001c0001t0001g0248 a0001c0001t0001g0314 a0002c0002t0005g0118	6	338	0.0178	-9	c.892 others(26): Show c.892-8967_892-8959delTTTTTTTTT	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding	1/4			chr1	TogoVar
EGR4_chr2_73285929_73298548	73290909	AGCTTACA others(2): Show AGCTTACATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02622.hp1 HG02647.hp1 others(2): Show HG02280.hp2 HG02622.hp1 HG02647.hp1 HG03225.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0003 a0001c0001t0003 a0001c0004t0003	a0001c0001t0003g0004 a0001c0004t0003g0008 a0001c0001t0003g0004 a0001c0004t0003g0008	5	358	0.0140	-9	c.53 others(18): Show c.539_*547delCATGTAAGC	EGR4	ENSG00000135625.8	transcript	ENST00000436467.4	protein_coding		19		chr2	TogoVar

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