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
ERBIN_chr5_65921575_66087546	66065591	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02071.hp1 HG02165.hp1 others(26): Show HG01167.hp2 HG02071.hp1 HG02165.hp1 HG02258.hp1 HG02451.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18951.hp1 NA18969.hp2 NA18992.hp2 NA19001.hp2 NA19076.hp2 NA19077.hp2 NA19080.hp1 NA19084.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0010	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0004c0005 a0004c0014 a0005c0006 a0010c0009	a0001c0001t0001 a0001c0002t0002 a0001c0002t0019 others(9): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0019 a0002c0003t0002 a0002c0003t0008 a0004c0005t0004 a0004c0005t0025 a0004c0014t0004 a0005c0006t0002 a0005c0006t0007 a0005c0006t0016 a0010c0009t0002	a0001c0001t0001g0054 a0001c0001t0001g0086 a0001c0001t0001g0159 others(26): Show a0001c0001t0001g0054 a0001c0001t0001g0086 a0001c0001t0001g0159 a0001c0002t0002g0293 a0001c0002t0002g0295 a0001c0002t0019g0298 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0008g0257 a0004c0005t0004g0007 a0004c0005t0004g0013 a0004c0005t0004g0014 a0004c0005t0004g0015 a0004c0005t0004g0016 a0004c0005t0004g0017 a0004c0005t0004g0019 a0004c0005t0004g0020 a0004c0005t0004g0021 a0004c0005t0025g0012 a0004c0014t0004g0018 a0005c0006t0002g0229 a0005c0006t0007g0026 a0005c0006t0007g0226 a0005c0006t0007g0230 a0005c0006t0016g0299 a0010c0009t0002g0169 a0010c0009t0002g0205	29	306	0.0948	-24	c.363 others(43): Show c.3634-6532_3634-6509delGTGTGTGTGTGTGTGTGTGTGTGT		ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	21/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66077771	CACACACA others(17): Show CACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01934.hp2 HG02280.hp1 others(2): Show HG01071.hp2 HG01934.hp2 HG02280.hp1 HG02818.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0133 a0001c0001t0001g0273	5	306	0.0163	-24	c.413 others(41): Show c.4132-636_4132-613delCACACACATACACACACACACACA		ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	25/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1004806	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01993.hp1 HG02602.hp1 HG01081.hp1 HG01993.hp1 HG02602.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0083 a0001c0001t0103 a0002c0002t0099 a0001c0001t0083 a0001c0001t0103 a0002c0002t0099	a0001c0001t0083g0130 a0001c0001t0103g0132 a0002c0002t0099g0131 a0001c0001t0083g0130 a0001c0001t0103g0132 a0002c0002t0099g0131	3	162	0.0185	-24	c.-15 others(45): Show c.-157+13504_-157+13527delGTGTGTGTGTGTGTGTGTGTGTGT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1119546	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0008 a0001c0001t0093g0008	1	162	0.0062	-24	c.156 others(43): Show c.1569+3515_1569+3538delTGTGTGTGTGTGTGTGTGTGTGAG		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122217	ATCTCTAT others(17): Show ATCTCTATCTCTATCTCTATCTGTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02895.hp1 others(2): Show HG01891.hp1 HG02280.hp2 HG02895.hp1 HG03195.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0074 a0002c0002t0060 others(2): Show a0001c0001t0005 a0001c0001t0074 a0002c0002t0060 a0002c0002t0066 a0002c0002t0127	a0001c0001t0005g0041 a0001c0001t0074g0039 a0002c0002t0060g0040 others(2): Show a0001c0001t0005g0041 a0001c0001t0074g0039 a0002c0002t0060g0040 a0002c0002t0066g0139 a0002c0002t0127g0155	5	162	0.0309	-24	c.156 others(43): Show c.1569+6206_1569+6229delGTGTCTCTATCTCTATCTCTATCT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122493	ATCTCTAT others(17): Show ATCTCTATCTCTATCTCTATCTGTG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0066 a0001c0001t0045g0066	1	162	0.0062	-24	c.156 others(43): Show c.1569+6482_1569+6505delGTGTCTCTATCTCTATCTCTATCT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1154213	GTATGTAT others(17): Show GTATGTATATGTATATGTATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00639.hp2 others(52): Show HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01106.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01891.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02109.hp2 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 NA18966.hp2 NA18982.hp2 NA19090.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0009	a0001c0001 a0001c0013 a0002c0002 others(6): Show a0001c0001 a0001c0013 a0002c0002 a0002c0006 a0002c0007 a0003c0004 a0005c0010 a0006c0009 a0009c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(50): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0061 a0001c0001t0067 a0001c0001t0071 a0001c0001t0074 a0001c0001t0083 a0001c0001t0090 a0001c0001t0091 a0001c0001t0103 a0001c0001t0130 a0001c0001t0132 a0001c0001t0133 a0001c0013t0063 a0002c0002t0016 a0002c0002t0017 a0002c0002t0018 a0002c0002t0026 a0002c0002t0047 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0060 a0002c0002t0065 a0002c0002t0066 a0002c0002t0100 a0002c0002t0127 a0002c0002t0131 a0002c0002t0134 a0002c0002t0136 a0002c0006t0051 a0002c0007t0059 a0003c0004t0003 a0003c0004t0009 a0003c0004t0010 a0003c0004t0096 a0005c0010t0082 a0006c0009t0025 a0009c0008t0041	a0001c0001t0001g0076 a0001c0001t0003g0029 a0001c0001t0004g0075 others(52): Show a0001c0001t0001g0076 a0001c0001t0003g0029 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0005g0041 a0001c0001t0019g0120 a0001c0001t0020g0113 a0001c0001t0021g0116 a0001c0001t0023g0162 a0001c0001t0024g0112 a0001c0001t0028g0129 a0001c0001t0029g0160 a0001c0001t0030g0109 a0001c0001t0031g0118 a0001c0001t0033g0111 a0001c0001t0034g0161 a0001c0001t0061g0153 a0001c0001t0067g0121 a0001c0001t0071g0074 a0001c0001t0074g0039 a0001c0001t0083g0130 a0001c0001t0090g0032 a0001c0001t0091g0028 a0001c0001t0103g0132 a0001c0001t0130g0102 a0001c0001t0132g0103 a0001c0001t0133g0094 a0001c0013t0063g0077 a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0017g0097 a0002c0002t0018g0117 a0002c0002t0026g0115 a0002c0002t0047g0104 a0002c0002t0052g0154 a0002c0002t0053g0136 a0002c0002t0054g0135 a0002c0002t0055g0137 a0002c0002t0060g0040 a0002c0002t0065g0072 a0002c0002t0066g0139 a0002c0002t0100g0134 a0002c0002t0127g0155 a0002c0002t0131g0065 a0002c0002t0134g0105 a0002c0002t0136g0100 a0002c0006t0051g0081 a0002c0007t0059g0071 a0003c0004t0003g0058 a0003c0004t0009g0059 a0003c0004t0010g0053 a0003c0004t0096g0063 a0005c0010t0082g0126 a0006c0009t0025g0110 a0009c0008t0041g0140	55	162	0.3395	-24	c.173 others(45): Show c.1737+12450_1737+12473delATATGTATATGTATATGTATATGT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1333017	TTCGTCCT others(17): Show TTCGTCCTGATCCTCGTCCTGATCC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01496.hp1 HG01496.hp2 others(10): Show HG01081.hp1 HG01496.hp1 HG01496.hp2 HG02615.hp2 HG02622.hp1 HG02735.hp1 HG02922.hp2 HG02976.hp2 HG03579.hp1 HG03654.hp2 HG06807.hp1 NA19030.hp1 NA19240.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0002c0002 a0007c0012 others(1): Show a0001c0001 a0002c0002 a0007c0012 a0008c0011	a0001c0001t0013 a0001c0001t0049 a0001c0001t0068 others(10): Show a0001c0001t0013 a0001c0001t0049 a0001c0001t0068 a0001c0001t0071 a0002c0002t0035 a0002c0002t0036 a0002c0002t0038 a0002c0002t0065 a0002c0002t0084 a0002c0002t0089 a0002c0002t0099 a0007c0012t0073 a0008c0011t0044	a0001c0001t0013g0015 a0001c0001t0049g0157 a0001c0001t0068g0083 others(10): Show a0001c0001t0013g0015 a0001c0001t0049g0157 a0001c0001t0068g0083 a0001c0001t0071g0074 a0002c0002t0035g0143 a0002c0002t0036g0158 a0002c0002t0038g0082 a0002c0002t0065g0072 a0002c0002t0084g0025 a0002c0002t0089g0037 a0002c0002t0099g0131 a0007c0012t0073g0067 a0008c0011t0044g0068	13	162	0.0803	-24	c.278 others(45): Show c.2781-38760_2781-38737delGATCCTCGTCCTGATCCTCGTCCT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1400908	ATTTTTGT others(17): Show ATTTTTGTATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp1 HG03579.hp1 others(1): Show HG02615.hp2 HG02622.hp1 HG03579.hp1 HG06807.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0002c0002 a0007c0012 others(1): Show a0001c0001 a0002c0002 a0007c0012 a0008c0011	a0001c0001t0049 a0002c0002t0038 a0007c0012t0073 others(1): Show a0001c0001t0049 a0002c0002t0038 a0007c0012t0073 a0008c0011t0044	a0001c0001t0049g0157 a0002c0002t0038g0082 a0007c0012t0073g0067 others(1): Show a0001c0001t0049g0157 a0002c0002t0038g0082 a0007c0012t0073g0067 a0008c0011t0044g0068	4	162	0.0247	-24	c.292 others(43): Show c.2926-7235_2926-7212delGTATTTTTTTTTTTTTTTTTTTTT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1418666	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG03654.hp2 HG02258.hp2 HG02615.hp2 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0001c0001t0049 a0002c0002t0085 a0001c0001t0013 a0001c0001t0049 a0002c0002t0085	a0001c0001t0013g0015 a0001c0001t0049g0157 a0002c0002t0085g0142 a0001c0001t0013g0015 a0001c0001t0049g0157 a0002c0002t0085g0142	3	162	0.0185	-24	c.302 others(45): Show c.3024+10455_3024+10478delCTTTCTTTCTTTCTTTCTTTCTTT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1424832	TAGATAGA others(17): Show TAGATAGATAGATGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0080 a0002c0002t0080	a0002c0002t0080g0127 a0002c0002t0080g0127	1	162	0.0062	-24	c.302 others(45): Show c.3024+16586_3024+16609delAGATAGATAGATGATAGATAGATA		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18						chr12	TogoVar
ERC1_chr12_986223_1500931	1424836	TAGATAGA others(17): Show TAGATAGATGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG04199.hp1 NA18612.hp1 others(1): Show HG02572.hp1 HG04199.hp1 NA18612.hp1 NA18949.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0119 a0001c0001t0125 a0001c0003t0092 others(1): Show a0001c0001t0119 a0001c0001t0125 a0001c0003t0092 a0002c0002t0134	a0001c0001t0119g0061 a0001c0001t0125g0033 a0001c0003t0092g0004 others(1): Show a0001c0001t0119g0061 a0001c0001t0125g0033 a0001c0003t0092g0004 a0002c0002t0134g0105	4	162	0.0247	-24	c.302 others(45): Show c.3024+16590_3024+16613delAGATAGATGATAGATAGATAGATA		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18						chr12	TogoVar
ERC1_chr12_986223_1500931	1424840	TAGATGAT others(17): Show TAGATGATAGATAGATAGATAGATC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02055.hp2 HG02896.hp1 others(3): Show HG00408.hp1 HG02055.hp2 HG02896.hp1 HG03225.hp2 NA19043.hp1 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0005	a0001c0001t0004 a0001c0003t0088 a0002c0002t0002 others(1): Show a0001c0001t0004 a0001c0003t0088 a0002c0002t0002 a0004c0005t0122	a0001c0001t0004g0078 a0001c0003t0088g0021 a0002c0002t0002g0087 others(3): Show a0001c0001t0004g0078 a0001c0003t0088g0021 a0002c0002t0002g0087 a0002c0002t0002g0090 a0002c0002t0002g0091 a0004c0005t0122g0057	6	162	0.0370	-24	c.302 others(45): Show c.3024+16594_3024+16617delAGATGATAGATAGATAGATAGATC		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18						chr12	TogoVar
ERC1_chr12_986223_1500931	1440600	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18612.hp1 HG04199.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0125 a0001c0003t0092 a0001c0001t0125 a0001c0003t0092	a0001c0001t0125g0033 a0001c0003t0092g0004 a0001c0001t0125g0033 a0001c0003t0092g0004	2	162	0.0124	-24	c.302 others(43): Show c.3025-3917_3025-3894delTGTGTGTGTGTGTGTGTGTGTGTG		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55583520	CCTCCCTT others(17): Show CCTCCCTTCCTTCCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	74	0.0135	-24	c.40 others(43): Show c.40-72268_*40-72245delAAAGGAAGGAAGGAAGGAAGGGAG		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55691557	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	74	0.0135	-24	c.284 others(43): Show c.2848-7722_2848-7699delATATATATTTTTTTTTTTTTTTTT		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	16/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55714659	GTGTGTGT others(17): Show GTGTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	74	0.0135	-24	c.271 others(45): Show c.2713-15171_2713-15148delTATATATATATATATACACACACA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55714661	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0073 a0001c0001t0009g0073	1	74	0.0135	-24	c.271 others(45): Show c.2713-15173_2713-15150delTATATATATATATATATACACACA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55714665	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG06807.hp2 HG03225.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0057 a0001c0002t0003g0018 a0001c0001t0002g0057 a0001c0002t0003g0018	2	74	0.0270	-24	c.271 others(45): Show c.2713-15177_2713-15154delTATATATATATATATATATATACA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55720131	CTCTTCTT others(17): Show CTCTTCTTCTTCCTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	74	0.0135	-24	c.271 others(45): Show c.2712+14616_2712+14639delAGAAGAAGAAGAGGAAGAAGAAGA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55720143	CTCTTCTT others(17): Show CTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	74	0.0135	-24	c.271 others(45): Show c.2712+14604_2712+14627delAGAAGAAGAAGAAGAAGAAGAAGA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55796240	GGCTTTGT others(17): Show GGCTTTGTTTGAGAAGAAAAGTGAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02486.hp2 HG01167.hp2 HG01169.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0004 a0001c0001t0006 a0001c0002t0004	a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0002t0004g0001 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0002t0004g0001	3	74	0.0405	-24	c.256 others(45): Show c.2565-61346_2565-61323delTTCACTTTTCTTCTCAAACAAAGC		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	56033030	CAGAAAGA others(17): Show CAGAAAGAAAGAAAGAAAGAAAGAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1 HG01099.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0061 a0001c0001t0002g0055 a0001c0002t0001g0067 a0001c0001t0001g0061 a0001c0001t0002g0055 a0001c0002t0001g0067	3	74	0.0405	-24	c.164 others(45): Show c.1642-14023_1642-14000delTTCTTTCTTTCTTTCTTTCTTTCT		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	56051826	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG06807.hp1 HG03098.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0002 a0001c0001t0009 a0001c0002t0002	a0001c0001t0009g0073 a0001c0002t0002g0016 a0001c0001t0009g0073 a0001c0002t0002g0016	2	74	0.0270	-24	c.164 others(45): Show c.1641+28967_1641+28990delGTGTGTGTGTGTGTGTGTGTGTGT		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	56311233	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	74	0.0135	-24	c.658 others(43): Show c.658-14822_658-14799delTAGAGAGAGAGAGAGAGAGAGAGA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	56348883	GGAAGGAA others(17): Show GGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	74	0.0135	-24	c.658 others(43): Show c.658-52472_658-52449delTTTCCTTCCTTCCTTCCTTCCTTC		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	56348943	GGAAGGAA others(17): Show GGAAGGAAGGAAGGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0074 a0001c0002t0013g0074	1	74	0.0135	-24	c.658 others(43): Show c.658-52532_658-52509delTTTCTTTCTTTCCTTCCTTCCTTC		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17						chr3	TogoVar
ERCC2_chr19_45344837_45375573	45374289	GCACACAC others(17): Show GCACACACACACACGCACGCACGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(160): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG01071.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp1	a0001 a0003 a0007 others(4): Show a0001 a0003 a0007 a0009 a0010 a0011 a0014	a0001c0001 a0001c0002 a0001c0009 others(9): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0020 a0003c0006 a0003c0008 a0007c0021 a0009c0023 a0010c0022 a0011c0024 a0014c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0016 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0031 a0001c0002t0002 a0001c0009t0001 a0001c0010t0001 a0001c0020t0001 a0003c0006t0001 a0003c0006t0003 a0003c0006t0010 a0003c0008t0003 a0007c0021t0001 a0009c0023t0001 a0010c0022t0007 a0011c0024t0001 a0014c0028t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(115): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0002g0024 a0001c0001t0002g0096 a0001c0001t0002g0120 a0001c0001t0002g0127 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0149 a0001c0001t0002g0159 a0001c0001t0002g0179 a0001c0001t0002g0283 a0001c0001t0002g0293 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0121 a0001c0001t0006g0119 a0001c0001t0007g0033 a0001c0001t0007g0135 a0001c0001t0007g0286 a0001c0001t0011g0126 a0001c0001t0011g0295 a0001c0001t0016g0124 a0001c0001t0024g0122 a0001c0001t0025g0133 a0001c0001t0026g0143 a0001c0001t0029g0147 a0001c0001t0031g0058 a0001c0002t0002g0048 a0001c0009t0001g0026 a0001c0010t0001g0158 a0001c0010t0001g0162 a0001c0020t0001g0195 a0003c0006t0001g0137 a0003c0006t0003g0188 a0003c0006t0010g0025 a0003c0008t0003g0123 a0003c0008t0003g0128 a0003c0008t0003g0171 a0007c0021t0001g0160 a0009c0023t0001g0155 a0010c0022t0007g0056 a0011c0024t0001g0131 a0014c0028t0001g0199	163	412	0.3956	-24	c.-37 others(35): Show c.-3773_-3750delTGCGTGCGTGCGTGTGTGTGTGTG		ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding					3717		chr19	TogoVar
ERCC6_chr10_49449470_49544121	49526093	ATATATTT others(17): Show ATATATTTATATATTTATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02165.hp1 HG02523.hp2 others(1): Show HG00609.hp2 HG02165.hp1 HG02523.hp2 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0015 a0002c0002t0004 a0002c0002t0015	a0002c0002t0004g0053 a0002c0002t0004g0054 a0002c0002t0015g0055 others(1): Show a0002c0002t0004g0053 a0002c0002t0004g0054 a0002c0002t0015g0055 a0002c0002t0015g0056	4	388	0.0103	-24	c.653 others(41): Show c.653-1340_653-1317delAAAATATATAAATATATAAATATA		ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20						chr10	TogoVar
ERCC6_chr10_49449470_49544121	49526107	TTATATAT others(17): Show TTATATATTTTTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0129 a0005c0008t0001g0129	1	388	0.0026	-24	c.653 others(41): Show c.653-1354_653-1331delTATATATATATATAAAAATATATA		ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20						chr10	TogoVar
ERCC6_chr10_49449470_49544121	49526115	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	388	0.0026	-24	c.653 others(41): Show c.653-1362_653-1339delTATATATATATATATATATATAAA		ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20						chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526093	ATATATTT others(17): Show ATATATTTATATATTTATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02165.hp1 HG02523.hp2 others(1): Show HG00609.hp2 HG02165.hp1 HG02523.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0014 a0002c0002t0002g0014	4	402	0.0100	-24	c.653 others(41): Show c.653-1340_653-1317delAAAATATATAAATATATAAATATA		ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5						chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526107	TTATATAT others(17): Show TTATATATTTTTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	402	0.0025	-24	c.653 others(41): Show c.653-1354_653-1331delTATATATATATATAAAAATATATA		ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5						chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526115	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	402	0.0025	-24	c.653 others(41): Show c.653-1362_653-1339delTATATATATATATATATATATAAA		ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5						chr10	TogoVar
ERCC8_chr5_60861454_60950070	60870043	TTCAAGTG others(17): Show TTCAAGTGGAAGCCTCCCATATTTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0054 a0001c0001t0076g0054	1	302	0.0033	-24	c.45 others(35): Show c.4548_*4571delGAAATATGGGAGGCTTCCACTTGA		ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	12/12				4548		chr5	TogoVar
ERCC8_chr5_60861454_60950070	60904628	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02257.hp2 others(10): Show HG01884.hp2 HG01891.hp1 HG02257.hp2 HG02258.hp2 HG02572.hp1 HG02622.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG03225.hp2 NA18522.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0082 others(1): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0082 a0001c0001t0083	a0001c0001t0007g0015 a0001c0001t0007g0024 a0001c0001t0007g0025 others(9): Show a0001c0001t0007g0015 a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0031 a0001c0001t0010g0002 a0001c0001t0010g0026 a0001c0001t0010g0028 a0001c0001t0010g0029 a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0082g0014 a0001c0001t0083g0027	13	302	0.0431	-24	c.481 others(39): Show c.481+140_481+163delTATATATATATATATATACACACA		ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	5/11						chr5	TogoVar
ERCC8_chr5_60861454_60950070	60904630	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0013 a0001c0007t0013	a0001c0007t0013g0129 a0001c0007t0013g0129	1	302	0.0033	-24	c.481 others(39): Show c.481+138_481+161delTATATATATATATATATATACACA		ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	5/11						chr5	TogoVar
ERCC8_chr5_60861454_60950070	60904634	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02132.hp2 HG02273.hp1 others(12): Show HG00673.hp2 HG02132.hp2 HG02273.hp1 NA18612.hp1 NA18959.hp1 NA18968.hp1 NA18970.hp1 NA18973.hp2 NA18981.hp1 NA19003.hp2 NA19011.hp1 NA19058.hp2 NA19060.hp1 NA19081.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0031 a0001c0001t0004 a0001c0001t0031	a0001c0001t0004g0006 a0001c0001t0004g0237 a0001c0001t0004g0238 others(11): Show a0001c0001t0004g0006 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0249 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0031g0239 a0001c0001t0031g0242	15	302	0.0497	-24	c.481 others(39): Show c.481+134_481+157delTATATATATATATATATATATATA		ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	5/11						chr5	TogoVar
ERCC8_chr5_60861454_60950070	60938040	CATACATA others(17): Show CATACATACATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01358.hp1 HG02451.hp1 others(12): Show HG01255.hp1 HG01358.hp1 HG02451.hp1 HG02486.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG03453.hp1 NA18962.hp2 NA18981.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 others(4): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0085 a0001c0005t0020	a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 others(11): Show a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0011g0167 a0001c0001t0012g0181 a0001c0001t0012g0182 a0001c0001t0012g0183 a0001c0001t0012g0185 a0001c0001t0012g0186 a0001c0001t0014g0089 a0001c0001t0014g0090 a0001c0001t0020g0108 a0001c0001t0085g0180 a0001c0005t0020g0004	15	302	0.0497	-24	c.77+ others(39): Show c.77+6868_77+6891delATATATATATATATATGTATGTAT		ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	1/11						chr5	TogoVar
ERCC8_chr5_60861454_60950070	60938048	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0283 a0001c0001t0005g0283	1	302	0.0033	-24	c.77+ others(39): Show c.77+6860_77+6883delATATATATATATATATATATATAT		ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	1/11						chr5	TogoVar
EREG_chr4_74360145_74393749	74393189	TGTTGAGA others(17): Show TGTTGAGAACCCCCATCACAGAAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0053 a0001c0002t0002g0053	1	358	0.0028	-24	c.83 others(35): Show c.8382_*8405delGTTGAGAACCCCCATCACAGAAAC		EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding					4441		chr4	TogoVar
ERGIC3_chr20_35537078_35562634	35539563	TAACAGTT others(17): Show TAACAGTTTATATATATAAAATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG01069.hp1 others(46): Show HG00423.hp1 HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01175.hp1 HG01515.hp1 HG01517.hp2 HG01993.hp1 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp2 HG02602.hp1 HG02698.hp2 HG02738.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03130.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18945.hp2 NA18947.hp2 NA18961.hp1 NA18962.hp2 NA18971.hp2 NA18974.hp2 NA18986.hp2 NA18990.hp2 NA18992.hp2 NA19004.hp2 NA19060.hp2 NA19064.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0157 a0001c0002t0001g0006 others(27): Show a0001c0001t0001g0009 a0001c0001t0001g0157 a0001c0002t0001g0006 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0180 a0001c0002t0001g0194	49	364	0.1346	-24	c.-25 others(35): Show c.-2534_-2511delAACAGTTTATATATATAAAATATA		ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding					2514		chr20	TogoVar
ERI3_chr1_44216070_44360257	44342845	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	340	0.0029	-24	c.212 others(41): Show c.212-3547_212-3524delAAAAAAAAAAAATATATATATATA		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8						chr1	TogoVar
ERICH1_chr8_659200_736224	673457	CACCGTCC others(17): Show CACCGTCCTCCTCCCTGGTGTCTTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02615.hp1 HG03471.hp1 HG03516.hp1 HG02615.hp1 HG03471.hp1 HG03516.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0238 a0005c0007t0001g0239 a0005c0007t0001g0240 a0005c0007t0001g0238 a0005c0007t0001g0239 a0005c0007t0001g0240	3	378	0.0079	-24	c.871 others(31): Show c.871_894delAAAGACACCAGGGAGGAGGACGGT	p.Lys others(13): Show p.Lys291_Gly298del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/6	957/1798	871/1332	291/443			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98085136	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG02486.hp2 others(3): Show HG01891.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02970.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0055 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0055 a0001c0001t0002g0354 a0001c0001t0002g0371 a0001c0001t0002g0372	6	442	0.0136	-24	c.59- others(39): Show c.59-3921_59-3898delTTTTTTTTTTTTTTTTTTTTTTTT		ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH6B_chr13_45536294_45620739	45606497	GTGTATGT others(17): Show GTGTATGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0002	a0007c0010t0002g0206 a0007c0010t0002g0206	1	326	0.0031	-24	c.-59 others(41): Show c.-59+1043_-59+1066delTATATATATATATATACACATACA		ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14						chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45606499	GTATGTGT others(17): Show GTATGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	326	0.0031	-24	c.-59 others(41): Show c.-59+1041_-59+1064delTATATATATATATATATACACATA		ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14						chr13	TogoVar
ERLEC1_chr2_53782044_53823796	53783371	CTGTATTT others(17): Show CTGTATTTGGAAGAATCTATCTAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02717.hp2 HG01243.hp1 HG02717.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0004c0006t0002 a0001c0001t0002 a0004c0006t0002	a0001c0001t0002g0131 a0004c0006t0002g0150 a0001c0001t0002g0131 a0004c0006t0002g0150	2	374	0.0054	-24	c.-38 others(35): Show c.-3839_-3816delTGTATTTGGAAGAATCTATCTAAA		ERLEC1	ENSG00000068912.15	transcript	ENST00000185150.9	protein_coding					3672		chr2	TogoVar
ERLIN2_chr8_37731634_37763422	37734461	CAGGAAGG others(17): Show CAGGAAGGAAGGAAGGAAGGAAGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0070 a0001c0004t0026g0070	1	224	0.0045	-24	c.-22 others(35): Show c.-2232_-2209delAGGAAGGAAGGAAGGAAGGAAGGA		ERLIN2	ENSG00000147475.17	transcript	ENST00000519638.3	protein_coding					2172		chr8	TogoVar
ERO1B_chr1_236210101_236286958	236250572	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02109.hp2 HG02280.hp1 others(4): Show HG00741.hp2 HG02109.hp2 HG02280.hp1 HG02886.hp2 HG03139.hp2 NA18522.hp1 NA20129.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0009	a0001c0009 a0003c0007 a0005c0008 others(1): Show a0001c0009 a0003c0007 a0005c0008 a0009c0013	a0001c0009t0005 a0001c0009t0052 a0003c0007t0041 others(2): Show a0001c0009t0005 a0001c0009t0052 a0003c0007t0041 a0005c0008t0028 a0009c0013t0028	a0001c0009t0005g0269 a0001c0009t0052g0270 a0003c0007t0041g0209 others(4): Show a0001c0009t0005g0269 a0001c0009t0052g0270 a0003c0007t0041g0209 a0003c0007t0041g0271 a0005c0008t0028g0388 a0005c0008t0028g0390 a0009c0013t0028g0389	7	396	0.0177	-24	c.349 others(39): Show c.349-629_349-606delATATATATATATATATATATATAT		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	4/15						chr1	TogoVar

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