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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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
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(33): Show AAAAAAAAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0058 a0001c0001t0008g0058	1	366	0.0027	40	c.-29 others(51): Show c.-2977_-2976insATATATATATATATATATATATATATATATTTTT TTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
EBF1_chr5_158690920_159104916	158851729	G G	GAAGGGAA others(33): Show GAAGGGAAGAGAAAGGAAGGGAAGGGAAGAAAATGGAAGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(20): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00738.hp2 HG01069.hp1 HG01106.hp1 HG01168.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01981.hp2 HG02280.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03225.hp1 HG03710.hp1 HG04184.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0069 a0001c0001t0070 a0001c0001t0086 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0014 a0001c0002t0036 a0001c0002t0064	a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0002g0100 others(20): Show a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0002g0100 a0001c0001t0009g0080 a0001c0001t0011g0096 a0001c0001t0021g0160 a0001c0001t0022g0099 a0001c0001t0022g0124 a0001c0001t0023g0097 a0001c0001t0027g0104 a0001c0001t0069g0071 a0001c0001t0070g0075 a0001c0001t0086g0154 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0145 a0001c0002t0003g0108 a0001c0002t0003g0126 a0001c0002t0006g0022 a0001c0002t0014g0009 a0001c0002t0014g0010 a0001c0002t0036g0012 a0001c0002t0064g0056	23	196	0.1174	40	c.555 others(59): Show c.555-11659_555-11620dupACCTTCCATTTTCTTCCCTTCCCTTC CTTTCTCTTCCCTT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF2_chr8_25836725_26050413	26005486	A A	ATATATAT others(33): Show ATATATATTATAAAATATAATATATATTTTATAATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00597.hp1 others(90): Show HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03704.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18964.hp2 NA18970.hp2 NA18983.hp2 NA18998.hp1 NA19003.hp1 NA19007.hp1 NA19011.hp2 NA19030.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0019 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0037 a0001c0001t0042 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0011 a0001c0002t0016 a0001c0002t0017 a0001c0002t0025 a0001c0002t0040 a0001c0002t0041 a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 a0001c0004t0010 a0001c0005t0008 a0001c0005t0010 a0002c0003t0005 a0002c0003t0007	a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0093 others(90): Show a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0131 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0003g0168 a0001c0001t0003g0201 a0001c0001t0004g0090 a0001c0001t0004g0092 a0001c0001t0004g0133 a0001c0001t0006g0182 a0001c0001t0006g0183 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0203 a0001c0001t0009g0002 a0001c0001t0012g0162 a0001c0001t0012g0172 a0001c0001t0019g0009 a0001c0001t0021g0020 a0001c0001t0028g0113 a0001c0001t0029g0144 a0001c0001t0030g0115 a0001c0001t0031g0150 a0001c0001t0037g0160 a0001c0001t0042g0220 a0001c0002t0001g0024 a0001c0002t0001g0030 a0001c0002t0001g0038 a0001c0002t0001g0083 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0112 a0001c0002t0001g0127 a0001c0002t0001g0132 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0169 a0001c0002t0003g0171 a0001c0002t0003g0174 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0184 a0001c0002t0003g0187 a0001c0002t0003g0189 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0008g0152 a0001c0002t0011g0219 a0001c0002t0016g0202 a0001c0002t0017g0001 a0001c0002t0025g0018 a0001c0002t0040g0175 a0001c0002t0041g0192 a0001c0004t0001g0017 a0001c0004t0001g0128 a0001c0004t0003g0204 a0001c0004t0008g0154 a0001c0004t0008g0156 a0001c0004t0010g0007 a0001c0005t0008g0155 a0001c0005t0010g0008 a0002c0003t0005g0145 a0002c0003t0007g0205 a0002c0003t0007g0206	93	220	0.4227	40	c.551 others(59): Show c.551+27598_551+27599insATATATATTATAAAATATATATTATA TTTTATAATATATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF3_chr10_129830233_129969274	129917651	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0337 a0001c0001t0026g0337	1	338	0.0030	40	c.554 others(59): Show c.554+39606_554+39607insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
ECHDC3_chr10_11737382_11769070	11742311	G G	GGGGGCGG others(33): Show GGGGGCGGGGCGGGGCGTGCCGGGGCGGGGCGGGGCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(60): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01928.hp2 HG01934.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG03017.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG06807.hp1 NA18943.hp1 NA18944.hp2 NA18952.hp1 NA18954.hp1 NA18962.hp2 NA18963.hp1 NA18974.hp1 NA18980.hp2 NA18986.hp2 NA18994.hp2 NA18998.hp1 NA19010.hp2 NA19012.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19067.hp1 NA19072.hp2 NA19077.hp2 NA19078.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0001 a0001c0023t0001 a0001c0001t0001 a0001c0023t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0016 others(27): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0023t0001g0097	63	420	0.1500	40	c.-26 others(49): Show c.-266_-265insGGGGCGGGGCGGGGCGTGCCGGGGCGGGGCGGGGCG TGCC	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding		70		chr10	TogoVar
ECPAS_chr9_111355685_111489383	111468689	C C	CGTGTGTG others(33): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0301 a0002c0003t0001g0301	1	354	0.0028	40	c.22+ others(55): Show c.22+4207_22+4208insACACACACACACACACACACACACACACAC ACACACACAC	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
EDA_chrX_69611113_70044472	69645584	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02071.hp1 NA19009.hp1 HG00673.hp1 HG02071.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0159 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0001g0159 a0001c0001t0002g0169 a0001c0001t0002g0170	3	226	0.0133	40	c.396 others(59): Show c.396+28889_396+28890insATATATATATATATATATATATATAT GTGTGTATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDC3_chr15_74625558_74701024	74668729	T T	TGAAAGAA others(33): Show TGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	286	0.0035	40	c.484 others(57): Show c.484+2725_484+2726insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EDNRA_chr4_147476097_147549954	147542250	G G	GGGGGGGG others(33): Show GGGGGGGGGGGGGGGGTGGGGGGGGGGAGGGAGGAGAAAGA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0049 a0001c0002t0005g0049	1	280	0.0036	40	c.114 others(57): Show c.1144-227_1144-226insGGGGGGGGGGGGGGTGGGGGGGGGGAGG GAGGAGAAAGAG	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18967.hp2 HG00408.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0146 a0001c0001t0003g0137 a0001c0001t0003g0146	2	358	0.0056	40	c.400 others(57): Show c.400-3626_400-3625insATATATATATATATATATATATATTTTT TTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	358	0.0028	40	c.291 others(55): Show c.291+332_291+333insTATATATATATATATATATATATATATATA TATATATATA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEFSEC_chr3_128148481_128413646	128152902	C C	CCCCCGCC others(33): Show CCCCCGCCCCCCCATCCTACCCCCCCCGTCCCCCCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	272	0.0037	40	c.-60 others(49): Show c.-606_-605insCCCCGCCCCCCCATCCTACCCCCCCCGTCCCCCCCG CCCT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		578		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152991	C C	CCCCGCCC others(33): Show CCCCGCCCCCCCCGCCCCCCCCCGCCCCCCCCGCCCCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	272	0.0037	40	c.-51 others(49): Show c.-517_-516insCCCGCCCCCCCCGCCCCCCCCCGCCCCCCCCGCCCC CCTT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		489		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152991	C C	CCGCCCCC others(33): Show CCGCCCCCCCCCGCCCCCCCCCGCCCCCCCCCGCCCCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	272	0.0037	40	c.-51 others(49): Show c.-517_-516insCGCCCCCCCCCGCCCCCCCCCGCCCCCCCCCGCCCC CCTT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		489		chr3	TogoVar
EEIG1_chr9_127935582_127985989	127985676	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	342	0.0029	40	c.-55 others(51): Show c.-5540_-5539insGTGTATATATATATATATATATATATATATATAT ATATAT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4688		chr9	TogoVar
EFCAB11_chr14_89789669_89959730	89881452	C C	CATATATA others(33): Show CATATATATATATATATATATATATATACATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0264 a0001c0006t0014g0264	1	284	0.0035	40	c.410 others(59): Show c.410+50088_410+50089insATATATATATATGTATATATATATAT ATATATATATATAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89881452	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG01255.hp2 others(7): Show HG00735.hp2 HG01243.hp1 HG01255.hp2 HG01496.hp2 HG02071.hp1 HG02071.hp2 HG02647.hp2 HG02698.hp1 NA18986.hp1 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0015 a0001c0001t0033 a0002c0005t0007	a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0139 others(7): Show a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0139 a0001c0001t0002g0148 a0001c0001t0005g0119 a0001c0001t0006g0063 a0001c0001t0011g0153 a0001c0001t0015g0099 a0001c0001t0033g0050 a0002c0005t0007g0252	10	284	0.0352	40	c.410 others(59): Show c.410+50088_410+50089insATATATATATATATATATATATATAT ATATATATATATAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89955819	C C	CGGGCTTT others(33): Show CGGGCTTTAGGACCCAGCGGTGGGCTTTAGGACCCAGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0258 a0002c0005t0002g0258	1	284	0.0035	40	c.-11 others(51): Show c.-1160_-1159insACCGCTGGGTCCTAAAGCCCACCGCTGGGTCCTA AAGCCC	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding		1090		chr14	TogoVar
EFCAB5_chr17_29936634_30113452	30097051	T T	TATACGTA others(33): Show TATACGTATACGTATACATATACATATACATATACATATAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0002 a0014c0021t0002	a0014c0021t0002g0012 a0014c0021t0002g0012	1	248	0.0040	40	c.432 others(59): Show c.4321+4118_4321+4119insCGTATACGTATACATATACATATACA TATACATATACATA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43578800	C C	CTACATGC others(33): Show CTACATGCAGGCATCATTCCCTACACGCAGGCATCATTCCG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03491.hp2 HG03492.hp1 HG02622.hp1 HG03491.hp2 HG03492.hp1	a0001 a0014 a0001 a0014	a0001c0023 a0014c0017 a0001c0023 a0014c0017	a0001c0023t0001 a0014c0017t0001 a0001c0023t0001 a0014c0017t0001	a0001c0023t0001g0254 a0014c0017t0001g0282 a0014c0017t0001g0283 a0001c0023t0001g0254 a0014c0017t0001g0282 a0014c0017t0001g0283	3	290	0.0103	40	c.322 others(59): Show c.3228+1624_3228+1663dupCGGAATGATGCCTGCGTGTAGGGAAT GATGCCTGCATGTA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	25/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618143	G G	GAGGAAGG others(33): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18954.hp1 NA19004.hp1 others(2): Show HG00280.hp1 NA18954.hp1 NA19004.hp1 NA19009.hp2 NA19057.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0013 a0003c0003 a0006c0006 a0001c0013 a0003c0003 a0006c0006	a0001c0013t0001 a0003c0003t0001 a0006c0006t0001 a0001c0013t0001 a0003c0003t0001 a0006c0006t0001	a0001c0013t0001g0188 a0003c0003t0001g0222 a0003c0003t0001g0227 others(2): Show a0001c0013t0001g0188 a0003c0003t0001g0222 a0003c0003t0001g0227 a0003c0003t0001g0230 a0006c0006t0001g0269	5	290	0.0172	40	c.246 others(59): Show c.2466-2222_2466-2221insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFHC1_chr6_52415342_52502198	52493365	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG01168.hp1 HG03130.hp1 others(1): Show HG00735.hp1 HG01168.hp1 HG03130.hp1 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0025 a0002c0002t0024 a0004c0004t0025 a0001c0001t0025 a0002c0002t0024 a0004c0004t0025	a0001c0001t0025g0110 a0002c0002t0024g0009 a0002c0002t0024g0142 others(1): Show a0001c0001t0025g0110 a0002c0002t0024g0009 a0002c0002t0024g0142 a0004c0004t0025g0025	4	396	0.0101	40	c.10 others(51): Show c.1044_*1045insATATATATATATATATATATATATATATATATAT ATATAT	EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	11/11	1045	INFO_REALIGN_3_PRIME	chr6	TogoVar
EFHC1_chr6_52415342_52502198	52493369	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0051 a0007c0007t0051	a0007c0007t0051g0162 a0007c0007t0051g0162	1	396	0.0025	40	c.10 others(51): Show c.1044_*1045insATATATATATATATATATATATACATATATATAT ATATAT	EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	11/11	1045	INFO_REALIGN_3_PRIME	chr6	TogoVar
EFHC2_chrX_44142872_44348672	44187135	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02280.hp2 HG02886.hp2 others(4): Show HG00741.hp1 HG02280.hp2 HG02886.hp2 NA18966.hp1 NA18981.hp2 NA19006.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0006t0001	a0001c0001t0003g0119 a0001c0001t0003g0138 a0001c0001t0003g0165 others(4): Show a0001c0001t0003g0119 a0001c0001t0003g0138 a0001c0001t0003g0165 a0001c0001t0005g0091 a0001c0001t0006g0023 a0001c0001t0015g0003 a0001c0006t0001g0029	7	221	0.0317	40	c.175 others(59): Show c.1752-8572_1752-8571insTATATATATATATATATATATATATA TATATATATATATA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFL1_chr15_82125233_82267734	82211595	G G	GACACACA others(33): Show GACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01071.hp2 others(9): Show HG00642.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01261.hp1 HG01516.hp1 HG01884.hp2 HG02080.hp2 HG03471.hp1 HG03471.hp2 HG03834.hp2 NA19084.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0005 a0001c0008 a0002c0002 others(1): Show a0001c0005 a0001c0008 a0002c0002 a0008c0011	a0001c0005t0001 a0001c0008t0001 a0002c0002t0001 others(1): Show a0001c0005t0001 a0001c0008t0001 a0002c0002t0001 a0008c0011t0001	a0001c0005t0001g0023 a0001c0005t0001g0026 a0001c0005t0001g0028 others(9): Show a0001c0005t0001g0023 a0001c0005t0001g0026 a0001c0005t0001g0028 a0001c0005t0001g0029 a0001c0005t0001g0349 a0001c0008t0001g0354 a0001c0008t0001g0360 a0002c0002t0001g0072 a0002c0002t0001g0077 a0008c0011t0001g0256 a0008c0011t0001g0257 a0008c0011t0001g0258	12	368	0.0326	40	c.175 others(59): Show c.1750+3121_1750+3122insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFNA5_chr5_107371894_107675937	107476046	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATACATATATATGTA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0001 a0001c0001t0031g0001	1	190	0.0053	40	c.126 others(59): Show c.126-48538_126-48537insTACATATATATGTATATATATATATA TATATATATATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107476046	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01433.hp1 HG01981.hp2 others(3): Show HG00609.hp2 HG01433.hp1 HG01981.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0021 a0001c0001t0070 a0001c0001t0076	a0001c0001t0002g0152 a0001c0001t0003g0019 a0001c0001t0016g0053 others(3): Show a0001c0001t0002g0152 a0001c0001t0003g0019 a0001c0001t0016g0053 a0001c0001t0021g0118 a0001c0001t0070g0021 a0001c0001t0076g0020	6	190	0.0316	40	c.126 others(59): Show c.126-48538_126-48537insTATACATATATATATATATATATATA TATATATATATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFR3B_chr2_25037076_25164135	25046506	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0119 a0001c0003t0006g0119	1	306	0.0033	40	c.7+4 others(53): Show c.7+4203_7+4204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EGFL6_chrX_13564601_13638575	13598958	A A	ATATATAA others(33): Show ATATATAATTCACATATATATAATTCATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0004 a0010c0016t0004	a0010c0016t0004g0025 a0010c0016t0004g0025	1	302	0.0033	40	c.281 others(57): Show c.281-1016_281-1015insATATAATTCACATATATATAATTCATAT ATATATATTTTT	EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
EGF_chr4_109907883_110018766	109932360	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	388	0.0026	40	c.128 others(57): Show c.128-8569_128-8568insTATATATATATATATATATATATATATA TATATATATATA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(33): Show AAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02886.hp2 HG02015.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0049 a0001c0001t0003g0050	2	418	0.0048	40	c.119 others(57): Show c.119-1910_119-1909insATATATATATATATATATATATATATAT ATTTTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(33): Show AAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA19043.hp1 HG01934.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0019 a0001c0001t0007 a0001c0001t0019	a0001c0001t0007g0318 a0001c0001t0019g0021 a0001c0001t0007g0318 a0001c0001t0019g0021	2	418	0.0048	40	c.119 others(57): Show c.119-1910_119-1909insATATATATATATATATATATATATATAT ATATTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAATATA others(33): Show AAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0314 a0001c0001t0005g0314	1	418	0.0024	40	c.119 others(57): Show c.119-1910_119-1909insATATATATATATATATATATATATATAT ATATATATATTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0219 a0001c0002t0001g0219	1	322	0.0031	40	c.295 others(55): Show c.295-753_295-752insAAAAAATATATATATATATATATATATATA TATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	322	0.0031	40	c.-10 others(57): Show c.-10+1695_-10+1696insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(33): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp1 HG01255.hp2 others(6): Show HG00099.hp2 HG01106.hp1 HG01255.hp2 HG02896.hp1 NA18940.hp1 NA18943.hp1 NA18961.hp1 NA18974.hp1 NA19080.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0002 a0006c0011t0002 a0001c0001t0002 a0006c0011t0002	a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 others(6): Show a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0078 a0001c0001t0002g0096 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0131 a0006c0011t0002g0123	9	350	0.0257	40	c.219 others(59): Show c.2197-1048_2197-1047insCACACACACACACACACACACACACA CACACACACACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3H_chr8_116637130_116760823	116666753	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0318 a0001c0001t0007g0318	1	336	0.0030	40	c.290 others(57): Show c.290-7774_290-7773insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	400	0.0025	40	c.40 others(49): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF4A3_chr17_80129369_80152128	80145235	T T	TCGCTTCA others(33): Show TCGCTTCACTTTGTCCAAACTGTTGTGGCATCAAGAACTAC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0137 a0001c0004t0002g0137	1	420	0.0024	40	c.170 others(56): Show c.170-1031_170-992dupGTAGTTCTTGATGCCACAACAGTTTGGAC AAAGTGAAGCG	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/11			chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80146992	C C	CGCCGCTG others(33): Show CGCCGCTGCCGACCTCGCTGTGCCGCTGCCGACCTCGCTGT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0097 a0001c0001t0046g0097	1	420	0.0024	40	c.-32 others(47): Show c.-32_-31insACAGCGAGGTCGGCAGCGGCACAGCGAGGTCGGCAGCG GC	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	32		chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80147047	C C	CTGCCGCT others(33): Show CTGCCGCTGCCGACCTCGCTGTGCCCCTGCCGACCTCGCTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02040.hp2 NA19089.hp1 HG02040.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0057 a0001c0001t0034g0057	2	420	0.0048	40	c.-87 others(47): Show c.-87_-86insCAGCGAGGTCGGCAGGGGCACAGCGAGGTCGGCAGCGG CA	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	87		chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80147047	C C	CTGCCGCT others(33): Show CTGCCGCTGCCGACCTCGCTGTGCCGCTGCCGACCTCGCTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00735.hp2 others(54): Show HG00099.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01106.hp1 HG01192.hp2 HG01255.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02080.hp2 HG02257.hp2 HG02273.hp2 HG02486.hp2 HG02647.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp2 NA18747.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18969.hp1 NA18979.hp1 NA18989.hp2 NA19000.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19063.hp1 NA19066.hp2 NA19082.hp1 NA19087.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0008	a0001c0001t0004 a0001c0001t0013 a0001c0001t0015 others(6): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0048 a0001c0002t0027 a0001c0003t0028 a0001c0006t0027 a0002c0008t0004	a0001c0001t0004g0002 a0001c0001t0004g0041 a0001c0001t0004g0042 others(27): Show a0001c0001t0004g0002 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0013g0043 a0001c0001t0013g0044 a0001c0001t0013g0045 a0001c0001t0013g0116 a0001c0001t0015g0017 a0001c0001t0015g0117 a0001c0001t0017g0023 a0001c0001t0048g0105 a0001c0002t0027g0115 a0001c0003t0028g0118 a0001c0003t0028g0119 a0001c0006t0027g0099 a0002c0008t0004g0120	57	420	0.1357	40	c.-12 others(48): Show c.-126_-87dupCAGCGAGGTCGGCAGCGGCACAGCGAGGTCGGCAGCG GCA	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	87		chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80147047	C C	CTGTGCCG others(33): Show CTGTGCCGCTGCCGACCTCGCTGCCGCTGCCGACCTCGCTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0124 a0001c0001t0051g0124	1	420	0.0024	40	c.-87 others(47): Show c.-87_-86insCAGCGAGGTCGGCAGCGGCAGCGAGGTCGGCAGCGGCA CA	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	87		chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80147066	T T	TGTGCCGC others(33): Show TGTGCCGCTGCCGACCTCGCCGTGCCGCTGCCGACCTCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0208 a0001c0001t0071g0208	1	420	0.0024	40	c.-10 others(49): Show c.-106_-105insGGCGAGGTCGGCAGCGGCACGGCGAGGTCGGCAGCG GCAC	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	106		chr17	TogoVar
EIF4E_chr4_98874276_98934133	98896224	A A	AAAATAAA others(33): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp2 HG03130.hp2 others(1): Show HG02622.hp2 HG03098.hp2 HG03130.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0004g0173 others(1): Show a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0004g0173 a0001c0001t0004g0187	4	300	0.0133	40	c.126 others(57): Show c.126-4893_126-4892insAATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTT	EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	2/6			chr4	TogoVar
EIF4G3_chr1_20801479_21181897	20989056	A A	AGGAGGGG others(33): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01496.hp1 HG03831.hp2 others(7): Show HG00323.hp2 HG01496.hp1 HG03831.hp2 NA18939.hp2 NA18947.hp1 NA18950.hp2 NA18960.hp1 NA18982.hp2 NA19000.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0025	a0001c0001t0001g0011 a0001c0001t0001g0134 a0001c0001t0001g0196 others(7): Show a0001c0001t0001g0011 a0001c0001t0001g0134 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0002g0066 a0001c0001t0003g0248 a0001c0001t0006g0154 a0001c0001t0010g0202 a0001c0001t0025g0302	10	312	0.0321	40	c.178 others(57): Show c.178-6649_178-6648insCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989081	G G	GGGAGGGG others(33): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01099.hp1 others(8): Show HG00140.hp1 HG00280.hp1 HG01099.hp1 HG01243.hp1 HG01952.hp2 HG02109.hp1 HG02129.hp2 HG02647.hp1 HG03486.hp2 HG03579.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0004 a0001c0001t0002g0031 a0001c0001t0002g0054 others(8): Show a0001c0001t0002g0004 a0001c0001t0002g0031 a0001c0001t0002g0054 a0001c0001t0002g0078 a0001c0001t0002g0083 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0213	11	312	0.0353	40	c.178 others(57): Show c.178-6674_178-6673insTCTCCTCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989081	G G	GGGAGGGG others(33): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03486.hp1 HG03017.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0214 a0001c0001t0001g0128 a0001c0001t0001g0214	2	312	0.0064	40	c.178 others(57): Show c.178-6674_178-6673insTCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIPR1_chr2_3183970_3382818	3315770	T T	TACCACCA others(33): Show TACCACCACCATCACCACCATCCCCATACACACCCCCTACC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp2 HG01256.hp2 others(7): Show HG00735.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01496.hp2 HG01978.hp1 HG02273.hp2 HG04228.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 others(7): Show a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0056 a0001c0001t0001g0197 a0001c0001t0003g0028 a0001c0001t0003g0063	10	250	0.0400	40	c.259 others(59): Show c.259+22246_259+22247insGGTAGGGGGTGTGTATGGGGATGGTG GTGATGGTGGTGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315770	T T	TACCACCA others(33): Show TACCACCACCATCACCACCATCCCCATCCACAGCCCCTACC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp1 HG02647.hp1 others(1): Show HG01106.hp1 HG01123.hp1 HG02647.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0002g0010 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0002g0010 a0001c0001t0003g0198	4	250	0.0160	40	c.259 others(59): Show c.259+22246_259+22247insGGTAGGGGCTGTGGATGGGGATGGTG GTGATGGTGGTGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar

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