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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EPB41_chr1_28909569_29125041	28934666	T T	TTTGTGTG others(6): Show TTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG03486.hp1 others(5): Show HG02451.hp1 HG02486.hp1 HG03486.hp1 NA18941.hp1 NA19010.hp1 NA19011.hp1 NA19070.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0015 a0001c0004t0009 a0001c0001t0001 a0001c0001t0015 a0001c0004t0009	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0094 a0001c0001t0001g0136 a0001c0001t0015g0175 a0001c0004t0009g0127	8	312	0.0256	13	c.-8+ others(30): Show c.-8+19899_-8+19900insTGTGTGTGTGTGT		EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935468	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG02572.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0092 a0001c0001t0001g0074 a0001c0001t0001g0092	2	312	0.0064	13	c.-8+ others(30): Show c.-8+20700_-8+20701insACACACACACACA		EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20						chr1	TogoVar
EPB41_chr1_28909569_29125041	29047253	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00621.hp2 others(41): Show HG00280.hp2 HG00597.hp2 HG00621.hp2 HG01069.hp1 HG01071.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01256.hp1 HG01358.hp2 HG01884.hp2 HG02056.hp2 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02683.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG06807.hp1 NA18906.hp2 NA18943.hp2 NA18959.hp1 NA18973.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0001t0018 a0001c0001t0030 others(5): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0030 a0001c0002t0003 a0001c0002t0007 a0001c0002t0019 a0001c0002t0036 a0001c0012t0007	a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0022 others(41): Show a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0018g0086 a0001c0001t0030g0057 a0001c0002t0003g0046 a0001c0002t0003g0191 a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0196 a0001c0002t0003g0207 a0001c0002t0003g0208 a0001c0002t0003g0209 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0227 a0001c0002t0007g0199 a0001c0002t0007g0200 a0001c0002t0007g0201 a0001c0002t0007g0202 a0001c0002t0007g0203 a0001c0002t0007g0205 a0001c0002t0007g0213 a0001c0002t0019g0190 a0001c0002t0019g0197 a0001c0002t0036g0305 a0001c0012t0007g0198	44	312	0.1410	13	c.163 others(32): Show c.1637-5847_1637-5835dupTTTTTTTTTTTTT		EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	11/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	29061572	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG01952.hp1 others(8): Show HG00609.hp2 HG00621.hp2 HG01952.hp1 HG01975.hp1 HG03831.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp1 NA18982.hp2 NA18998.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0051 others(8): Show a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0312 a0001c0001t0018g0085 a0001c0001t0018g0086	11	312	0.0353	13	c.200 others(32): Show c.2007+1102_2007+1114dupTTTTTTTTTTTTT		EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPC1_chr10_32262751_32352158	32290505	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19060.hp2 NA18986.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0134 a0001c0001t0001g0093 a0001c0001t0001g0134	2	318	0.0063	13	c.975 others(28): Show c.975+657_975+658insCTTTCTTTCTTTC		EPC1	ENSG00000120616.16	transcript	ENST00000319778.11	protein_coding	6/13						chr10	TogoVar
EPC2_chr2_148639751_148792569	148733479	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	308	0.0033	13	c.314 others(32): Show c.314-10119_314-10107dupTTTTTTTTTTTTT		EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
EPHA2_chr1_16119337_16161069	16136713	A A	AGAAGAAG others(6): Show AGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA19005.hp1 HG00280.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0169 a0001c0001t0001g0046 a0001c0001t0001g0169	2	312	0.0064	13	c.131 others(30): Show c.1313-944_1313-943insCTTCTTCTTCTTC		EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	5/16						chr1	TogoVar
EPHA3_chr3_89102621_89487134	89113485	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01975.hp1 HG00642.hp1 HG01975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0002 a0001c0001t0001 a0002c0006t0002	a0001c0001t0001g0094 a0002c0006t0002g0064 a0001c0001t0001g0094 a0002c0006t0002g0064	2	200	0.0100	13	c.88+ others(28): Show c.88+5665_88+5677dupAAAAAAAAAAAAA		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89136330	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01106.hp1 HG01109.hp1 others(15): Show HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01346.hp2 HG01361.hp1 HG01975.hp1 HG01975.hp2 HG02165.hp2 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG06807.hp1 NA18612.hp1 NA19074.hp1 NA19080.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0005 a0002c0006	a0001c0001t0001 a0001c0001t0006 a0002c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0002 a0002c0002t0004 a0002c0003t0003 a0002c0005t0005 a0002c0006t0002	a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0107 others(15): Show a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0006g0108 a0002c0002t0002g0068 a0002c0002t0002g0072 a0002c0002t0004g0155 a0002c0003t0003g0100 a0002c0003t0003g0102 a0002c0003t0003g0110 a0002c0005t0005g0083 a0002c0006t0002g0156	18	200	0.0900	13	c.153 others(30): Show c.153+9069_153+9081dupTTTTTTTTTTTTT		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208425	A A	AGGAAGGA others(6): Show AGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	200	0.0050	13	c.154 others(30): Show c.154-1434_154-1433insGAAGGAAGGAAGG		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89219688	G G	GTGTTTTT others(6): Show GTGTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00609.hp2 others(24): Show HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00735.hp2 HG01123.hp1 HG01192.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG02074.hp2 HG02109.hp2 HG02165.hp2 HG02486.hp2 HG02572.hp2 HG02698.hp2 HG02818.hp1 HG03130.hp1 HG06807.hp1 NA18612.hp1 NA18952.hp2 NA18969.hp1 NA18969.hp2 NA18989.hp1 NA18989.hp2 NA19007.hp2 NA19065.hp1 NA19074.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0006 others(1): Show a0001c0001 a0002c0002 a0002c0006 a0003c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0002c0002t0004 a0002c0002t0008 a0002c0006t0013 a0003c0004t0002	a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 others(24): Show a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0006g0053 a0001c0001t0009g0149 a0001c0001t0010g0099 a0002c0002t0004g0136 a0002c0002t0008g0040 a0002c0006t0013g0127 a0003c0004t0002g0140	27	200	0.1350	13	c.814 others(30): Show c.814+9169_814+9170insGTTTTTTTTTGTT		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89219688	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	200	0.0050	13	c.814 others(30): Show c.814+9170_814+9182dupTTTTTTTTTTTTT		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89321314	A A	ATCAGAAG others(6): Show ATCAGAAGTAATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0089 a0002c0002t0002g0089	1	200	0.0050	13	c.815 others(32): Show c.815-19601_815-19589dupTCAGAAGTAATAT		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA5_chr4_65314567_65675489	65465441	A A	AAAGAAAG others(6): Show AAAGAAAGGAAGAG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0212 a0001c0001t0005g0212	1	234	0.0043	13	c.140 others(34): Show c.1402+24935_1402+24936insCTCTTCCTTTCTT		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	5/16						chr4	TogoVar
EPHA5_chr4_65314567_65675489	65557259	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0068 a0001c0001t0004g0068	1	234	0.0043	13	c.910 others(32): Show c.910+44381_910+44382insTATATATATATAT		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16						chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576054	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	234	0.0043	13	c.910 others(32): Show c.910+25586_910+25587insTCTTTCTTTCTTT		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16						chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576088	G G	GAAAAGAA others(6): Show GAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01978.hp2 others(2): Show HG00639.hp2 HG01081.hp1 HG01978.hp2 HG02698.hp1 NA18951.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0007 a0001c0001t0015 a0001c0001t0057 others(2): Show a0001c0001t0007 a0001c0001t0015 a0001c0001t0057 a0001c0002t0002 a0002c0007t0002	a0001c0001t0007g0222 a0001c0001t0015g0213 a0001c0001t0057g0190 others(2): Show a0001c0001t0007g0222 a0001c0001t0015g0213 a0001c0001t0057g0190 a0001c0002t0002g0173 a0002c0007t0002g0161	5	234	0.0214	13	c.910 others(32): Show c.910+25540_910+25552dupTTTCTTTTCTTTT		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16						chr4	TogoVar
EPHA5_chr4_65314567_65675489	65650559	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0148 a0001c0001t0046g0148	1	234	0.0043	13	c.182 others(30): Show c.182-7145_182-7133dupTTTTTTTTTTTTT		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	1/16						chr4	TogoVar
EPHA6_chr3_96809594_97766532	97266776	A A	ATGAGCTA others(6): Show ATGAGCTAAAAGGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01175.hp1 others(50): Show HG00642.hp1 HG00735.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01934.hp2 HG01952.hp1 HG02055.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA19004.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19081.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0028 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0019 a0001c0002t0020 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0011 a0001c0003t0013 a0001c0003t0016 a0001c0003t0018 a0001c0003t0027 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0023 a0001c0005t0004 a0001c0006t0002 a0001c0006t0021 a0001c0007t0002 a0001c0009t0007 a0001c0010t0022	a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0002g0021 others(50): Show a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0002g0021 a0001c0001t0004g0016 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0006g0023 a0001c0001t0009g0019 a0001c0001t0014g0045 a0001c0001t0028g0015 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0001g0044 a0001c0002t0001g0074 a0001c0002t0001g0078 a0001c0002t0003g0043 a0001c0002t0004g0079 a0001c0002t0005g0055 a0001c0002t0007g0034 a0001c0002t0019g0006 a0001c0002t0020g0042 a0001c0002t0024g0031 a0001c0002t0025g0008 a0001c0002t0026g0032 a0001c0003t0002g0036 a0001c0003t0003g0012 a0001c0003t0003g0039 a0001c0003t0004g0004 a0001c0003t0004g0010 a0001c0003t0011g0002 a0001c0003t0011g0011 a0001c0003t0013g0001 a0001c0003t0016g0041 a0001c0003t0018g0020 a0001c0003t0027g0003 a0001c0004t0001g0075 a0001c0004t0002g0026 a0001c0004t0002g0027 a0001c0004t0003g0035 a0001c0004t0003g0037 a0001c0004t0003g0038 a0001c0004t0023g0073 a0001c0005t0004g0046 a0001c0005t0004g0048 a0001c0006t0002g0047 a0001c0006t0021g0049 a0001c0007t0002g0033 a0001c0009t0007g0014 a0001c0010t0022g0050	53	82	0.6463	13	c.160 others(34): Show c.1606+22492_1606+22493insGCTAAAAGGGTGA		EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97324395	G G	GCTTTCCT others(6): Show GCTTTCCTTCTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03225.hp2 HG03486.hp1 others(2): Show HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0006 a0001c0002t0001 a0001c0002t0024 others(2): Show a0001c0001t0006 a0001c0002t0001 a0001c0002t0024 a0001c0003t0027 a0001c0006t0021	a0001c0001t0006g0023 a0001c0002t0001g0022 a0001c0002t0024g0031 others(2): Show a0001c0001t0006g0023 a0001c0002t0001g0022 a0001c0002t0024g0031 a0001c0003t0027g0003 a0001c0006t0021g0049	5	82	0.0610	13	c.160 others(34): Show c.1606+80114_1606+80126dupCTTCTTTTCTTTC		EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA7_chr6_93235020_93424559	93311114	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	280	0.0036	13	c.132 others(34): Show c.1325-38705_1325-38693dupAAAAAAAAAAAAA		EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	5/16						chr6	TogoVar
EPHB1_chr3_134790260_135265467	135025221	A A	ATTTATTT others(6): Show ATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03017.hp2 HG03834.hp2 others(2): Show HG00735.hp2 HG03017.hp2 HG03834.hp2 HG03927.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0010 a0001c0002t0016 others(1): Show a0001c0001t0001 a0001c0002t0010 a0001c0002t0016 a0001c0004t0001	a0001c0001t0001g0040 a0001c0002t0010g0096 a0001c0002t0016g0114 others(2): Show a0001c0001t0001g0040 a0001c0002t0010g0096 a0001c0002t0016g0114 a0001c0004t0001g0020 a0001c0004t0001g0030	5	134	0.0373	13	c.805 others(32): Show c.805+73171_805+73172insTATTTATTTATTT		EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135052890	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0047 a0001c0001t0006g0047	1	134	0.0075	13	c.806 others(32): Show c.806-53557_806-53556insAAAAATATATATA		EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135052890	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0060 a0001c0003t0002g0060	1	134	0.0075	13	c.806 others(32): Show c.806-53557_806-53556insAAATATATATATA		EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB2_chr1_22705839_22926500	22741679	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01257.hp1 HG01496.hp1 others(12): Show HG01167.hp1 HG01257.hp1 HG01496.hp1 HG02300.hp1 HG03195.hp1 HG03239.hp1 HG03654.hp1 HG03688.hp2 HG04115.hp2 HG04184.hp1 NA18951.hp1 NA18999.hp1 NA19043.hp1 NA19065.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0027 a0001c0001t0030 a0001c0001t0045 a0001c0002t0001	a0001c0001t0001g0163 a0001c0001t0001g0185 a0001c0001t0002g0068 others(12): Show a0001c0001t0001g0163 a0001c0001t0001g0185 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0003g0094 a0001c0001t0003g0161 a0001c0001t0003g0194 a0001c0001t0004g0064 a0001c0001t0004g0168 a0001c0001t0015g0220 a0001c0001t0027g0229 a0001c0001t0030g0111 a0001c0001t0045g0187 a0001c0002t0001g0159 a0001c0002t0001g0219	15	248	0.0605	13	c.61+ others(30): Show c.61+30645_61+30646insAAAAAAAAAAAAA		EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB2_chr1_22705839_22926500	22741684	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0069 a0001c0001t0016g0069	1	248	0.0040	13	c.61+ others(30): Show c.61+30645_61+30646insAAAAAAAACAAAA		EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB2_chr1_22705839_22926500	22741696	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03130.hp2 HG02895.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0050 a0001c0002t0009 a0001c0001t0050 a0001c0002t0009	a0001c0001t0050g0227 a0001c0002t0009g0248 a0001c0001t0050g0227 a0001c0002t0009g0248	2	248	0.0081	13	c.61+ others(30): Show c.61+30653_61+30654insAAAAAAAAAAAAC		EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15						chr1	TogoVar
EPHB4_chr7_100797565_100832523	100811015	C C	CCGAGATG others(6): Show CCGAGATGGGTGGA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	364	0.0028	13	c.211 others(32): Show c.2118+1731_2118+1732insTCCACCCATCTCG		EPHB4	ENSG00000196411.10	transcript	ENST00000358173.8	protein_coding	12/16						chr7	TogoVar
EPHX2_chr8_27486143_27550564	27487397	T T	TCTCTTCT others(6): Show TCTCTTCTCTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0079 a0001c0005t0002g0079	1	374	0.0027	13	c.-38 others(24): Show c.-3812_-3811insCTCTTCTCTTCTC		EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding					3745		chr8	TogoVar
EPHX2_chr8_27486143_27550564	27501387	C C	CTTCTTCT others(6): Show CTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19064.hp2 HG02165.hp2 NA19064.hp2	a0001 a0001	a0001c0005 a0001c0017 a0001c0005 a0001c0017	a0001c0005t0003 a0001c0017t0001 a0001c0005t0003 a0001c0017t0001	a0001c0005t0003g0349 a0001c0017t0001g0203 a0001c0005t0003g0349 a0001c0017t0001g0203	2	374	0.0054	13	c.186 others(28): Show c.186+385_186+386insCTTCTTTCTTCTT		EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
EPHX2_chr8_27486143_27550564	27501395	T T	TCTTCTTC others(6): Show TCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0240 a0001c0002t0002g0240	1	374	0.0027	13	c.186 others(28): Show c.186+385_186+386insCTTCTTCTTCTTC		EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	2/18						chr8	TogoVar
EPHX2_chr8_27486143_27550564	27547746	T T	TTTTTACT others(6): Show TTTTTACTTCTAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	374	0.0027	13	c.32 others(24): Show c.3224_*3225insTTTTACTTCTAGG		EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding					2183		chr8	TogoVar
EPHX3_chr19_15221919_15237448	15229885	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00733.hp1 HG00733.hp2 others(18): Show HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01884.hp1 HG02055.hp2 HG02258.hp2 HG02572.hp2 HG02602.hp1 HG02738.hp2 HG03471.hp2 HG03942.hp1 HG04115.hp1 NA18747.hp1 NA19002.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0030 others(9): Show a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0132 a0001c0001t0001g0133	21	374	0.0562	13	c.616 others(30): Show c.616+1064_616+1076dupTTTTTTTTTTTTT		EPHX3	ENSG00000105131.8	transcript	ENST00000221730.8	protein_coding	4/6						chr19	TogoVar
EPM2A_chr6_145620305_145740520	145683268	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	320	0.0031	13	c.476 others(30): Show c.476+2853_476+2854insACACACACACACA		EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	2/3						chr6	TogoVar
EPN2_chr17_19232366_19341715	19276773	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp2 HG03041.hp2 others(1): Show HG02630.hp1 HG02886.hp2 HG03041.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0268 a0001c0001t0004g0101 a0001c0001t0004g0102 others(1): Show a0001c0001t0003g0268 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103	4	282	0.0142	13	c.-29 others(32): Show c.-293-5176_-293-5164dupTTTTTTTTTTTTT		EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03041.hp2 HG02717.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0106 a0001c0001t0004g0102 a0001c0001t0004g0106	2	282	0.0071	13	c.766 others(30): Show c.766+3942_766+3954dupTTTTTTTTTTTTT		EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19318549	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02622.hp1 others(10): Show HG02258.hp2 HG02559.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp2 HG03041.hp2 HG03195.hp1 HG03453.hp1 HG03486.hp2 HG03704.hp2 NA18522.hp1 NA18972.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0067 a0001c0001t0001g0113 a0001c0001t0001g0115 others(10): Show a0001c0001t0001g0067 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0002g0037 a0001c0001t0004g0102 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0110 a0001c0001t0004g0117 a0001c0001t0004g0118	13	282	0.0461	13	c.114 others(32): Show c.1147+5276_1147+5288dupAAAAAAAAAAAAA		EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EPOR_chr19_11372207_11389314	11384703	C C	CTCTCTCT others(6): Show CTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02145.hp2 NA18973.hp2 others(4): Show HG00408.hp2 HG02145.hp2 NA18973.hp2 NA18989.hp2 NA18995.hp2 NA18999.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011	7	404	0.0173	13	c.-49 others(22): Show c.-497_-496insAGAGAGAGAGAGA		EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding					390		chr19	TogoVar
EPPK1_chr8_143852324_143883467	143863761	G G	GGGGCGGC others(6): Show GGGGCGGCGGCGGC	frameshift_variant frameshift_variant	HIGH	NA19076.hp2 NA19076.hp2	a0266 a0266	a0266c0098 a0266c0098	a0266c0098t0002 a0266c0098t0002	a0266c0098t0002g0090 a0266c0098t0002g0090	1	424	0.0024	13	c.949 others(22): Show c.9492_9493insGCCGCCGCCGCCC	p.Arg others(6): Show p.Arg3165fs	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	9567/16005	9492/15267	3164/5088			chr8	TogoVar
EPRS1_chr1_219963600_220051505	220044681	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	358	0.0028	13	c.46+ others(28): Show c.46+1649_46+1661dupTTTTTTTTTTTTT		EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	1/31						chr1	TogoVar
EPS15L1_chr19_16350247_16476970	16400336	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01978.hp1 HG01952.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0007 a0001c0001t0001g0013	2	276	0.0073	13	c.179 others(32): Show c.1791+1972_1791+1984dupTTTTTTTTTTTTT		EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	16/23						chr19	TogoVar
EPS15_chr1_51349263_51524266	51357376	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA20300.hp1 HG02486.hp1 NA20300.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0142 a0002c0001t0005g0148 a0002c0001t0005g0142 a0002c0001t0005g0148	2	152	0.0132	13	c.254 others(30): Show c.2545-543_2545-531dupTTTTTTTTTTTTT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	24/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51400712	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0123 a0002c0001t0008g0123	1	152	0.0066	13	c.191 others(30): Show c.1918+193_1918+205dupTTTTTTTTTTTTT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	19/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51462870	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03195.hp1 HG03471.hp2 HG02559.hp2 HG03195.hp1 HG03471.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132	3	152	0.0197	13	c.501 others(28): Show c.501+790_501+802dupAAAAAAAAAAAAA		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	7/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51488472	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0135 a0002c0001t0007g0135	1	152	0.0066	13	c.34- others(28): Show c.34-7171_34-7159dupTTTTTTTTTTTTT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51488472	T T	TAAAAAAA others(6): Show TAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show HG01109.hp2 HG02559.hp2 HG03195.hp1 HG03471.hp2 NA19043.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0001 a0004c0015 a0006c0010 a0002c0001 a0004c0015 a0006c0010	a0002c0001t0011 a0004c0015t0011 a0006c0010t0026 a0002c0001t0011 a0004c0015t0011 a0006c0010t0026	a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 a0004c0015t0011g0152 a0006c0010t0026g0129	5	152	0.0329	13	c.34- others(28): Show c.34-7159_34-7158insTGTTTTTTTTTTT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51503006	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG01257.hp2 others(4): Show HG00642.hp1 HG01109.hp2 HG01257.hp2 HG02559.hp2 HG03195.hp1 NA19043.hp1 NA20129.hp2	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0001 a0004c0015 a0006c0010 a0002c0001 a0004c0015 a0006c0010	a0002c0001t0007 a0002c0001t0011 a0004c0015t0011 others(1): Show a0002c0001t0007 a0002c0001t0011 a0004c0015t0011 a0006c0010t0026	a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(4): Show a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 a0002c0001t0011g0131 a0002c0001t0011g0132 a0004c0015t0011g0152 a0006c0010t0026g0129	7	152	0.0461	13	c.33+ others(30): Show c.33+16180_33+16192dupTTTTTTTTTTTTT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51508240	A A	AAAGAAAA others(6): Show AAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19240.hp2 HG02572.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0004 a0001c0002t0001 a0002c0001t0004	a0001c0002t0001g0045 a0002c0001t0004g0038 a0001c0002t0001g0045 a0002c0001t0004g0038	2	152	0.0132	13	c.33+ others(30): Show c.33+10958_33+10959insCTTTTCTTTTCTT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51517735	C C	CTTCCCCA others(6): Show CTTCCCCACTGTTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG00738.hp1 others(13): Show HG00438.hp1 HG00642.hp1 HG00738.hp1 HG01109.hp2 HG01257.hp2 HG01516.hp1 HG01517.hp1 HG02559.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp2 NA18747.hp1 NA19011.hp2 NA19043.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0009	a0001c0002 a0002c0001 a0004c0015 others(2): Show a0001c0002 a0002c0001 a0004c0015 a0006c0010 a0009c0012	a0001c0002t0001 a0002c0001t0007 a0002c0001t0008 others(4): Show a0001c0002t0001 a0002c0001t0007 a0002c0001t0008 a0002c0001t0011 a0004c0015t0011 a0006c0010t0026 a0009c0012t0007	a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 others(13): Show a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 a0002c0001t0008g0123 a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 a0004c0015t0011g0152 a0006c0010t0026g0129 a0009c0012t0007g0136	16	152	0.1053	13	c.33+ others(28): Show c.33+1463_33+1464insTAACAGTGGGGAA		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24						chr1	TogoVar
EPSTI1_chr13_42881388_42997241	42968919	A A	AAATACAC others(6): Show AAATACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0351 a0001c0001t0019g0351	1	352	0.0028	13	c.331 others(28): Show c.331+174_331+175insGTGTGTGTGTATT		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10						chr13	TogoVar

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