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
ERC1_chr12_986223_1500931	1121912	T T	TATCTGTG others(31): Show TATCTGTGCCTATTGATATATCTGTATATATCTATCTAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0115 a0002c0002t0115	a0002c0002t0115g0049 a0002c0002t0115g0049	1	162	0.0062	38	c.156 others(57): Show c.1569+5883_1569+5884insGTGCCTATTGATATATCTGTATATAT CTATCTAAATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121931	G G	GTCTCTGT others(31): Show GTCTCTGTCTGTGTCTCTATATCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0058 a0003c0004t0003g0058	1	162	0.0062	38	c.156 others(57): Show c.1569+5903_1569+5904insGTCTGTGTCTCTATATCTCTATCTCT ATCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121937	A A	ATCTCTAT others(31): Show ATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0144 a0001c0001t0050g0144	1	162	0.0062	38	c.156 others(57): Show c.1569+5907_1569+5908insCTATCTCTATCTCTATCTCTATCTCT ATCTGTGTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122007	A A	ATCTCTAT others(31): Show ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01517.hp1 HG02602.hp1 HG01346.hp2 HG01517.hp1 HG02602.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0001c0001t0103 a0002c0002t0072 a0001c0001t0008 a0001c0001t0103 a0002c0002t0072	a0001c0001t0008g0086 a0001c0001t0103g0132 a0002c0002t0072g0145 a0001c0001t0008g0086 a0001c0001t0103g0132 a0002c0002t0072g0145	3	162	0.0185	38	c.156 others(57): Show c.1569+5977_1569+5978insCTATCTGTGTCTCTATCTCTATCTCT ATCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122071	A A	ATCTCTAT others(31): Show ATCTCTATCTGTGTCTCTATCTCTATCTATCTCTATCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02055.hp2 HG01109.hp1 HG01884.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0080 a0002c0002t0001 a0002c0002t0002 a0002c0002t0080	a0002c0002t0001g0149 a0002c0002t0002g0090 a0002c0002t0080g0127 a0002c0002t0001g0149 a0002c0002t0002g0090 a0002c0002t0080g0127	3	162	0.0185	38	c.156 others(57): Show c.1569+6039_1569+6040insCTCTATCTGTGTCTCTATCTCTATCT ATCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122168	T T	TATCTGTG others(31): Show TATCTGTGCCTATTGATATATCTGTATATATCTATCTAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01106.hp1 HG00738.hp1 HG01106.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0009 a0001c0001t0003 a0003c0004t0009	a0001c0001t0003g0029 a0003c0004t0009g0059 a0001c0001t0003g0029 a0003c0004t0009g0059	2	162	0.0124	38	c.156 others(57): Show c.1569+6135_1569+6136insATCTGTGCCTATTGATATATCTGTAT ATATCTATCTAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1122480	T T	TATCTGTG others(31): Show TATCTGTGCCTATTGATATATCTGTATATATCTATCTAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0085 a0001c0001t0056g0085	1	162	0.0062	38	c.156 others(57): Show c.1569+6451_1569+6452insGTGCCTATTGATATATCTGTATATAT CTATCTAAATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122642	T T	TATCTGTG others(31): Show TATCTGTGCCTATTGATATATCTGTATATATCTATCTAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01517.hp2 HG02922.hp2 others(3): Show HG01192.hp1 HG01517.hp2 HG02922.hp2 HG03654.hp1 HG06807.hp1 NA18612.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0011 a0001c0001 a0002c0002 a0008c0011	a0001c0001t0007 a0001c0001t0050 a0001c0001t0095 others(3): Show a0001c0001t0007 a0001c0001t0050 a0001c0001t0095 a0001c0001t0125 a0002c0002t0036 a0008c0011t0044	a0001c0001t0007g0044 a0001c0001t0050g0144 a0001c0001t0095g0019 others(3): Show a0001c0001t0007g0044 a0001c0001t0050g0144 a0001c0001t0095g0019 a0001c0001t0125g0033 a0002c0002t0036g0158 a0008c0011t0044g0068	6	162	0.0370	38	c.156 others(57): Show c.1569+6613_1569+6614insGTGCCTATTGATATATCTGTATATAT CTATCTAAATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55864124	C C	CACATATA others(31): Show CACATATATATATACATATATATATATACACATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp1 HG02258.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0012 a0001c0001t0002g0021	2	74	0.0270	38	c.256 others(59): Show c.2564+24264_2564+24265insATATATATGTGTATATATATATAT GTATATATATATGT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERGIC1_chr5_172829251_172957683	172893896	T T	TACACACA others(31): Show TACACACACATATATATATGTGTATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01109.hp1 others(1): Show HG00639.hp1 HG00741.hp2 HG01109.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0121 a0001c0001t0001g0143 a0001c0001t0002g0243 others(1): Show a0001c0001t0001g0121 a0001c0001t0001g0143 a0001c0001t0002g0243 a0001c0001t0002g0244	4	334	0.0120	38	c.83- others(53): Show c.83-3105_83-3104insCACACACATATATATATGTGTATATATATA TACACACA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893896	T T	TATACACA others(31): Show TATACACATATATATATGTGTGTATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0160 a0001c0005t0018g0160	1	334	0.0030	38	c.83- others(53): Show c.83-3103_83-3102insCACATATATATATGTGTGTATATATATATA TACACATA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893896	T T	TATATACA others(31): Show TATATACATATATATATGTGTGTATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03516.hp1 HG02451.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0021 a0001c0001t0009g0329 a0001c0001t0003g0021 a0001c0001t0009g0329	2	334	0.0060	38	c.83- others(53): Show c.83-3101_83-3100insCATATATATATGTGTGTATATATATATATA CACATATA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893898	T T	TACACATA others(31): Show TACACATATATATGTGTGTATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG01070.hp2 others(22): Show HG00323.hp2 HG00597.hp2 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01257.hp1 HG01358.hp1 HG01361.hp1 HG01943.hp2 HG01952.hp2 HG02027.hp2 HG02071.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03942.hp2 HG04204.hp2 NA18942.hp2 NA18961.hp1 NA18971.hp1 NA18977.hp1 NA18988.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0019	a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0043 others(22): Show a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0105 a0001c0001t0001g0136 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0242 a0001c0001t0001g0251 a0001c0001t0002g0102 a0001c0001t0002g0141 a0001c0001t0002g0200 a0001c0001t0008g0149 a0001c0001t0008g0186 a0001c0001t0008g0231 a0001c0001t0011g0117 a0001c0001t0019g0068	25	334	0.0749	38	c.83- others(53): Show c.83-3103_83-3102insCACATATATATGTGTGTATATATATATATA TACACACA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(31): Show ATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	334	0.0030	38	c.83- others(53): Show c.83-3096_83-3095insATATATATATATGTGTGTGTGTGTGTGTGT GTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893939	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATGTATATATATG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	334	0.0030	38	c.83- others(53): Show c.83-3048_83-3047insATATATATATATGTATATATATGTATATAT ATATATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERG_chr21_38375036_38503477	38407634	G G	GTATGTAT others(31): Show GTATGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	360	0.0028	38	c.389 others(55): Show c.389-3926_389-3925insTATATATATATATATATATATATATATA TATATACATA	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	3/9			chr21	TogoVar
ERICH1_chr8_659200_736224	669209	A A	AGACGCCT others(31): Show AGACGCCTCCCCTGGCCCGTCTACACGTCTGTCTGGTGG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02738.hp1 HG02083.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0197 a0001c0001t0001g0121 a0001c0001t0001g0197	2	378	0.0053	38	c.106 others(55): Show c.1064-455_1064-418dupCCACCAGACAGACGTGTAGACGGGCCAG GGGAGGCGTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/5			chr8	TogoVar
ERICH1_chr8_659200_736224	669399	G G	GGACGCCT others(31): Show GGACGCCTCCCCTGGCCCGTCTACACGTCTGTCTGGTGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG03130.hp1 others(1): Show HG01891.hp2 HG02257.hp1 HG03130.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0025	4	378	0.0106	38	c.106 others(55): Show c.1064-608_1064-607insTCACCAGACAGACGTGTAGACGGGCCAG GGGAGGCGTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/5			chr8	TogoVar
ERICH1_chr8_659200_736224	669530	C C	CGTCTACA others(31): Show CGTCTACACGTCTGTCTGGTGGGACGCCTCCCCTGGCCT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03195.hp2 HG03471.hp2 HG02897.hp2 HG03195.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317	3	378	0.0079	38	c.106 others(55): Show c.1064-739_1064-738insAGGCCAGGGGAGGCGTCCCACCAGACAG ACGTGTAGAC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/5			chr8	TogoVar
ERICH1_chr8_659200_736224	669539	G G	GTCTGTCT others(31): Show GTCTGTCTGGTGGGACGCCTCCCCTGGCCCGTCTACACC	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA20752.hp1 HG04228.hp1 NA20752.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0002 a0007c0011t0002 a0001c0001t0002 a0007c0011t0002	a0001c0001t0002g0244 a0007c0011t0002g0245 a0001c0001t0002g0244 a0007c0011t0002g0245	2	378	0.0053	38	c.106 others(55): Show c.1064-748_1064-747insGGTGTAGACGGGCCAGGGGAGGCGTCCC ACCAGACAGA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/5			chr8	TogoVar
ERICH1_chr8_659200_736224	669568	C C	CGTCTACA others(31): Show CGTCTACACGTCTGTCTGGTGGGACGCCTCCCCTGGCCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	378	0.0027	38	c.106 others(55): Show c.1064-777_1064-776insAGGCCAGGGGAGGCGTCCCACCAGACAG ACGTGTAGAC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091993	C C	CTCCCTTC others(31): Show CTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0345 a0001c0001t0002g0346	2	442	0.0045	38	c.101 others(57): Show c.1013-1228_1013-1227insTCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERICH6_chr3_150654885_150708920	150672264	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0098 a0002c0001t0001g0098	1	348	0.0029	38	c.134 others(57): Show c.1343+1691_1343+1692insATATATATATATATATATATATATAT ATATATATATAT	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	11/13			chr3	TogoVar
ESR1_chr6_151802682_152108274	151850114	T T	TTATATAT others(31): Show TTATATATATATTATTTTATATGCATATAAAATAATATA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19082.hp2 NA19065.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0026 a0001c0003t0003 a0001c0001t0026 a0001c0003t0003	a0001c0001t0026g0115 a0001c0003t0003g0114 a0001c0001t0026g0115 a0001c0003t0003g0114	2	250	0.0080	38	c.643 others(55): Show c.643+7338_643+7339insTATTTTATATGCATATAAAATAATATAT ATATATATAT	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESR1_chr6_151802682_152108274	151850114	T T	TTATATAT others(31): Show TTATATATATATTATTTTATATGCATATAAAATAATATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp2 HG02717.hp2 others(3): Show HG01891.hp2 HG02622.hp2 HG02717.hp2 HG02818.hp1 HG03195.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0018 a0001c0002t0034 a0001c0002t0035 others(3): Show a0001c0002t0018 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0006t0018 a0001c0006t0033	a0001c0002t0018g0014 a0001c0002t0034g0016 a0001c0002t0035g0012 others(3): Show a0001c0002t0018g0014 a0001c0002t0034g0016 a0001c0002t0035g0012 a0001c0002t0036g0011 a0001c0006t0018g0015 a0001c0006t0033g0013	6	250	0.0240	38	c.643 others(55): Show c.643+7338_643+7339insTATTTTATATGCATATAAAATAATATGT ATATATATAT	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESR1_chr6_151802682_152108274	152064963	A A	AAATTGTG others(31): Show AAATTGTGTAGGAAGTGTCTATTGCAGTTCATGGACCAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	250	0.0040	38	c.136 others(57): Show c.1369+3840_1369+3877dupAATTGTGTAGGAAGTGTCTATTGCAG TTCATGGACCAT	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESRP1_chr8_94636174_94712466	94636525	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0333 a0001c0003t0001g0333	1	374	0.0027	38	c.-47 others(49): Show c.-4794_-4793insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding		4648		chr8	TogoVar
ESRP1_chr8_94636174_94712466	94668788	C C	CGTGTGTG others(31): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	374	0.0027	38	c.123 others(55): Show c.1233+538_1233+539insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	10/15			chr8	TogoVar
ESRP1_chr8_94636174_94712466	94668789	A A	ATGTGTGT others(31): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01256.hp1 HG01258.hp2 others(15): Show HG01175.hp1 HG01256.hp1 HG01258.hp2 HG02055.hp2 HG02257.hp1 HG02717.hp2 HG03017.hp2 NA18939.hp1 NA18953.hp2 NA18962.hp2 NA18971.hp1 NA19064.hp1 NA19064.hp2 NA19078.hp2 NA19081.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0001c0001t0001 a0001c0001t0003 a0001c0005t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(15): Show a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0227 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0003g0217 a0001c0001t0003g0322 a0001c0005t0001g0184	18	374	0.0481	38	c.123 others(55): Show c.1233+558_1233+559insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRRB_chr14_76371137_76506837	76485626	T T	TGAGAGAG others(31): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	318	0.0031	38	c.850 others(55): Show c.850+2901_850+2902insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESS2_chr22_19125279_19149651	19145452	T T	TCCATCCC others(31): Show TCCATCCCCCCCCCCCCCAGCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0008 a0001c0004t0004g0008	1	432	0.0023	38	c.-81 others(47): Show c.-813_-812insGGGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGGAT GG	ESS2	ENSG00000100056.12	transcript	ENST00000252137.11	protein_coding		802		chr22	TogoVar
ETFA_chr15_76210353_76316469	76272813	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0102	1	336	0.0030	38	c.816 others(55): Show c.816+1598_816+1599insATATATATATATATATATATATATATAT ATATATATAT	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	9/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76310068	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0262 a0002c0002t0004g0262	1	336	0.0030	38	c.39+ others(53): Show c.39+1281_39+1282insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76310369	G G	GAAAAAAA others(31): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0282 a0001c0001t0006g0282	1	336	0.0030	38	c.39+ others(51): Show c.39+980_39+981insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76311932	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	336	0.0030	38	c.-54 others(47): Show c.-545_-544insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		464		chr15	TogoVar
ETV1_chr7_13886229_13994666	13896725	A A	AAGAAAGG others(31): Show AAGAAAGGAGAGAGAAAGAAAAAGAAAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01516.hp1 HG01517.hp1 others(14): Show HG00438.hp1 HG01516.hp1 HG01517.hp1 HG02027.hp1 HG02080.hp1 HG02717.hp2 HG03471.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 NA18941.hp2 NA18955.hp1 NA18977.hp1 NA19006.hp2 NA19060.hp1 NA19078.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0041 a0002c0002t0001 a0002c0002t0002 a0002c0002t0037	a0001c0001t0001g0167 a0001c0001t0001g0215 a0001c0001t0001g0254 others(14): Show a0001c0001t0001g0167 a0001c0001t0001g0215 a0001c0001t0001g0254 a0001c0001t0002g0013 a0001c0001t0002g0087 a0001c0001t0014g0080 a0001c0001t0016g0192 a0001c0001t0019g0216 a0001c0001t0041g0309 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0156 a0002c0002t0001g0164 a0002c0002t0001g0199 a0002c0002t0001g0217 a0002c0002t0002g0075 a0002c0002t0037g0062	17	320	0.0531	38	c.121 others(55): Show c.1213-639_1213-638insCCTTTCTTTCTTTTTCTTTTTCTTTCTC TCTCCTTTCT	ETV1	ENSG00000006468.15	transcript	ENST00000430479.6	protein_coding	13/13			chr7	TogoVar
EVA1A_chr2_75487318_75565939	75555336	T T	TCTCTCTC others(31): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01975.hp2 HG03710.hp1 others(2): Show HG01433.hp1 HG01975.hp2 HG03710.hp1 NA19011.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0002t0009	a0001c0001t0002g0300 a0001c0001t0002g0363 a0001c0001t0004g0298 others(2): Show a0001c0001t0002g0300 a0001c0001t0002g0363 a0001c0001t0004g0298 a0001c0001t0008g0299 a0001c0002t0009g0301	5	384	0.0130	38	c.-19 others(57): Show c.-192+5343_-192+5344insGGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAG	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1C_chr21_32407706_32520387	32477737	C C	CCCCTCCC others(31): Show CCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01952.hp2 HG02886.hp2 others(1): Show HG01884.hp1 HG01952.hp2 HG02886.hp2 HG03041.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0130 a0002c0008t0002g0131 a0002c0008t0002g0132 others(1): Show a0002c0008t0002g0130 a0002c0008t0002g0131 a0002c0008t0002g0132 a0002c0008t0002g0257	4	346	0.0116	38	c.634 others(55): Show c.634+9913_634+9914insACCTCCCCCGTACGCCCTCCCCTCCCCC GTACGCCCTC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVA1C_chr21_32407706_32520387	32477867	C C	CCCTCCCC others(31): Show CCCTCCCCCGTACGCCCTCCCCTCCCCCGAACGCCCTCA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0001 a0008c0020t0001	a0008c0020t0001g0226 a0008c0020t0001g0226	1	346	0.0029	38	c.634 others(57): Show c.634+10047_634+10048insAACGCCCTCACCTCCCCCGTACGCCC TCCCCTCCCCCG	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVA1C_chr21_32407706_32520387	32477867	C C	CCCTCCCC others(31): Show CCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02630.hp2 HG02717.hp1 others(5): Show HG00639.hp1 HG02630.hp2 HG02717.hp1 HG03041.hp1 HG03490.hp1 HG03492.hp2 HG03704.hp2 HG03834.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0007t0001 a0001c0003t0001 a0001c0007t0001	a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0272 others(5): Show a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0272 a0001c0003t0001g0278 a0001c0003t0001g0279 a0001c0003t0001g0298 a0001c0007t0001g0266 a0001c0007t0001g0270	8	346	0.0231	38	c.634 others(57): Show c.634+10025_634+10062dupCCCGTACGCCCTCCCCTCCCCCGTAC GCCCTCACCTCC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVC2_chr4_5557439_5713559	5650638	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0002 a0006c0004t0002	a0006c0004t0002g0055 a0006c0004t0002g0055	1	292	0.0034	38	c.114 others(57): Show c.1146-9801_1146-9800insCTCTCTCTCTATATATATATATATAT ATATATATATAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVI5_chr1_92503696_92790108	92505128	T T	TGGGCAGG others(31): Show TGGGCAGGGAGGGGGTAGGGACGCAAAATAAGCCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0147 a0002c0002t0007g0147	1	168	0.0060	38	c.85 others(49): Show c.8527_*8528insGGAGGGGCTTATTTTGCGTCCCTACCCCCTCCCT GCCC	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding		3567		chr1	TogoVar
EXD3_chr9_137301896_137428162	137382020	G G	GGGAGGAG others(31): Show GGGAGGAGGTGAGGGCGCGCGGAGGAGGTGAGGGCGCGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0018 a0005c0005t0001g0018	1	82	0.0122	38	c.120 others(55): Show c.120+1292_120+1293insGCGCGCCCTCACCTCCTCCGCGCGCCCT CACCTCCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	3/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501582	A A	ATTATATA others(31): Show ATTATATATAATATATAGATATATATTATATATCTATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0178 a0001c0003t0002g0178	1	272	0.0037	38	c.238 others(57): Show c.2381-1883_2381-1882insATATAGATATATAATATATATCTATA TATTATATATAA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	601732	A A	ACACACAT others(31): Show ACACACATTCTCACACCAAGAACACCCCGTGTGCGAATC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01361.hp2 HG01952.hp1 others(8): Show HG00099.hp2 HG01361.hp2 HG01952.hp1 HG03017.hp2 HG03669.hp1 NA18747.hp1 NA18947.hp1 NA18973.hp1 NA19003.hp1 NA19012.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0026	a0001c0001t0001g0092 a0001c0001t0001g0105 a0001c0001t0001g0109 others(8): Show a0001c0001t0001g0092 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0142 a0001c0001t0002g0106 a0001c0001t0004g0087 a0001c0001t0004g0104 a0001c0001t0004g0140 a0001c0001t0005g0089 a0001c0001t0006g0093 a0001c0001t0026g0269	11	272	0.0404	38	c.743 others(55): Show c.743-2545_743-2508dupGATTCGCACACGGGGTGTTCTTGGTGTG AGAATGTGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC2_chr6_480154_698139	601772	A A	ACACACAT others(31): Show ACACACATTCTCACACCAAGAACACCCCGTGTGCGAATC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0007 a0001c0019t0007	a0001c0019t0007g0186 a0001c0019t0007g0186	1	272	0.0037	38	c.743 others(55): Show c.743-2585_743-2548dupGATTCGCACACGGGGTGTTCTTGGTGTG AGAATGTGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC2_chr6_480154_698139	601922	G G	GTGCGAAT others(31): Show GTGCGAATCCACACATTCTCACACCAAGAACACCCCGTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG03540.hp1 others(1): Show HG01884.hp1 HG02109.hp2 HG03540.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0001c0001t0011 a0002c0005t0011 a0001c0001t0003 a0001c0001t0011 a0002c0005t0011	a0001c0001t0003g0067 a0001c0001t0003g0084 a0001c0001t0011g0267 others(1): Show a0001c0001t0003g0067 a0001c0001t0003g0084 a0001c0001t0011g0267 a0002c0005t0011g0266	4	272	0.0147	38	c.743 others(55): Show c.743-2698_743-2697insGACGGGGTGTTCTTGGTGTGAGAATGTG TGGATTCGCA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC3L4_chr14_103089725_103115559	103109362	T T	TCCCTCCC others(31): Show TCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0081 a0002c0007t0003g0081	1	404	0.0025	38	c.197 others(55): Show c.1977-667_1977-666insCTCCCTCCCTCTCCACCCTGCCCCCATG TCTCCCTCCC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109362	T T	TCCCTCCC others(31): Show TCCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0219 a0010c0017t0001g0219	1	404	0.0025	38	c.197 others(55): Show c.1977-667_1977-666insCTCCCTCCCTCTCCACCCTGTCCCCGTG TCTCCCTCCC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109579	T T	TCCCTCCC others(31): Show TCCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0219 a0010c0017t0001g0219	1	404	0.0025	38	c.197 others(55): Show c.1977-450_1977-449insCTCCCTCCCTCTCCACCCTGTCCCCGTG TCTCCCTCCC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar

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