Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ESRRG_chr1_216498251_216728429	216511547	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG01071.hp1 others(22): Show HG00597.hp2 HG00609.hp2 HG01071.hp1 HG01074.hp1 HG01516.hp1 HG01928.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02080.hp2 HG02257.hp2 HG02293.hp2 HG02698.hp2 HG02809.hp2 HG03139.hp1 HG03471.hp1 HG03579.hp1 HG03704.hp2 HG03927.hp2 NA18941.hp2 NA18955.hp2 NA19043.hp1 NA19066.hp1 NA19076.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0008 a0001c0002 a0001c0007 a0001c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0007t0002 a0001c0008t0002	a0001c0002t0001g0048 a0001c0002t0001g0052 a0001c0002t0001g0112 others(22): Show a0001c0002t0001g0048 a0001c0002t0001g0052 a0001c0002t0001g0112 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0203 a0001c0002t0002g0021 a0001c0002t0002g0029 a0001c0002t0002g0040 a0001c0002t0002g0061 a0001c0002t0002g0078 a0001c0002t0002g0120 a0001c0002t0002g0159 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0230 a0001c0002t0002g0247 a0001c0002t0002g0262 a0001c0002t0002g0266 a0001c0002t0004g0270 a0001c0002t0008g0272 a0001c0007t0002g0179 a0001c0008t0002g0173	25	286	0.0874	26	c.113 others(45): Show c.1133-4365_1133-4364insTGTGTGTGTGTGTGTGTGTGTGTGTG	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	6/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216516636	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01891.hp2 HG00544.hp1 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0190 a0001c0001t0005g0090 a0001c0001t0001g0190 a0001c0001t0005g0090	2	286	0.0070	26	c.113 others(45): Show c.1132+2490_1132+2515dupGTGTGTGTGTGTGTGTGTGTGTGTGT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	6/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216682709	A A	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01928.hp2 NA18978.hp1 HG00738.hp1 HG01928.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0107 a0001c0002t0002g0198 a0001c0002t0002g0275 a0001c0001t0003g0107 a0001c0002t0002g0198 a0001c0002t0002g0275	3	286	0.0105	26	c.57- others(41): Show c.57-5244_57-5219dupACACACACACACACACACACACACAC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	1/6			chr1	TogoVar
ESYT2_chr7_158725997_158834509	158729568	A A	AGAGGGGC others(19): Show AGAGGGGCAAGTGTGGAGGTGCTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02965.hp1 HG02970.hp2 others(3): Show HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0014 a0003c0003 a0001c0014 a0003c0003	a0001c0014t0015 a0003c0003t0004 a0003c0003t0023 a0001c0014t0015 a0003c0003t0004 a0003c0003t0023	a0001c0014t0015g0173 a0001c0014t0015g0174 a0003c0003t0004g0332 others(3): Show a0001c0014t0015g0173 a0001c0014t0015g0174 a0003c0003t0004g0332 a0003c0003t0004g0334 a0003c0003t0004g0335 a0003c0003t0023g0330	6	370	0.0162	26	c.46 others(37): Show c.4638_*4639insCCCCAGCACCTCCACACTTGCCCCTC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1428		chr7	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	334	0.0030	26	c.732 others(41): Show c.732+538_732+539insATATATATATATATATATATATTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETFA_chr15_76210353_76316469	76272813	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp1 HG02922.hp1 others(2): Show HG02258.hp1 HG02717.hp1 HG02922.hp1 HG03209.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0236 others(2): Show a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0236 a0001c0001t0004g0238 a0001c0001t0004g0243	5	336	0.0149	26	c.816 others(43): Show c.816+1598_816+1599insATATATATATATATATATATATATAT	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	9/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76295936	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01993.hp1 HG02622.hp1 others(5): Show HG01978.hp1 HG01993.hp1 HG02622.hp1 HG03453.hp1 HG03831.hp2 NA19007.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0155 a0001c0001t0002g0167 a0001c0001t0002g0181 others(5): Show a0001c0001t0002g0155 a0001c0001t0002g0167 a0001c0001t0002g0181 a0001c0001t0002g0201 a0001c0001t0002g0206 a0001c0001t0002g0223 a0001c0001t0002g0226 a0002c0002t0004g0258	8	336	0.0238	26	c.40- others(39): Show c.40-200_40-199insAAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76310068	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19007.hp1 HG02027.hp2 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0258 a0002c0002t0004g0259 a0002c0002t0004g0258 a0002c0002t0004g0259	2	336	0.0060	26	c.39+ others(41): Show c.39+1256_39+1281dupTTTTTTTTTTTTTTTTTTTTTTTTTT	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76311932	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01081.hp1 HG01257.hp1 HG01070.hp2 HG01081.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0002g0222	3	336	0.0089	26	c.-54 others(35): Show c.-545_-544insAAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		464		chr15	TogoVar
ETFRF1_chr12_25190237_25210143	25202063	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0132	1	390	0.0026	26	c.-37 others(43): Show c.-37-1837_-37-1836insAAAAAAAAAAAAAAAAAAAAAAAAAA	ETFRF1	ENSG00000205707.11	transcript	ENST00000381356.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
ETNPPL_chr4_108737053_108768053	108741303	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	378	0.0027	26	c.11 others(37): Show c.1180_*1181insGCGCACACACACACACACACACACAC	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding		749		chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108741303	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	378	0.0027	26	c.11 others(37): Show c.1180_*1181insGCACACACACACACACACACACACAC	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding		749		chr4	TogoVar
ETS1_chr11_128453765_128592558	128464954	A A	AAAAAGTG others(19): Show AAAAAGTGCTCAGCAAAGTACTGTGAC	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0118 a0001c0002t0036g0118	1	286	0.0035	26	c.112 others(45): Show c.1124-1353_1124-1328dupGTCACAGTACTTTGCTGAGCACTTTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	8/9			chr11	TogoVar
ETV2_chr19_35636745_35649871	35638908	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG03139.hp2 NA19059.hp1 HG02738.hp2 HG03139.hp2 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	3	438	0.0069	26	c.-32 others(37): Show c.-3276_-3275insAAAAAAAAAAAAAAAAAAAAAAAAAA	ETV2	ENSG00000105672.15	transcript	ENST00000402764.6	protein_coding		2836		chr19	TogoVar
EVA1A_chr2_75487318_75565939	75555301	A A	ATCTCTCT others(19): Show ATCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0081 a0001c0001t0006g0081	1	384	0.0026	26	c.-19 others(45): Show c.-192+5353_-192+5378dupGAGAGAGAGAGAGAGAGAGAGAGAGA	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1A_chr2_75487318_75565939	75555336	T T	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG00741.hp2 others(7): Show HG00408.hp2 HG00738.hp2 HG00741.hp2 HG01167.hp2 HG01433.hp2 HG02015.hp1 HG03704.hp1 NA18945.hp2 NA19063.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008	a0001c0001t0002g0282 a0001c0001t0002g0291 a0001c0001t0002g0318 others(7): Show a0001c0001t0002g0282 a0001c0001t0002g0291 a0001c0001t0002g0318 a0001c0001t0004g0278 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0353 a0001c0001t0008g0352 a0001c0001t0008g0354	10	384	0.0260	26	c.-19 others(45): Show c.-192+5343_-192+5344insGGAGAGAGAGAGAGAGAGAGAGAGAG	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1C_chr21_32407706_32520387	32448916	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAGAGAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0247 a0001c0002t0001g0247	1	346	0.0029	26	c.161 others(43): Show c.161-4395_161-4394insAAGAAAGAAAGAAAGAAAGAGAGAAA	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVC2_chr4_5557439_5713559	5650638	T T	TATATATA others(19): Show TATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0003 a0014c0021t0003	a0014c0021t0003g0021 a0014c0021t0003g0021	1	292	0.0034	26	c.114 others(45): Show c.1146-9801_1146-9800insCTCTCTCTCTCTCTCTATATATATAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5794271	A A	ATATATAT others(19): Show ATATATATTTTTATATATTTATATTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02258.hp2 others(2): Show HG01884.hp1 HG01891.hp1 HG02258.hp2 HG02615.hp2 NA20300.hp1	a0006 a0017 a0063 a0006 a0017 a0063	a0006c0012 a0006c0033 a0017c0038 others(1): Show a0006c0012 a0006c0033 a0017c0038 a0063c0095	a0006c0012t0026 a0006c0033t0004 a0017c0038t0004 others(1): Show a0006c0012t0026 a0006c0033t0004 a0017c0038t0004 a0063c0095t0005	a0006c0012t0026g0327 a0006c0033t0004g0199 a0017c0038t0004g0080 others(2): Show a0006c0012t0026g0327 a0006c0033t0004g0199 a0017c0038t0004g0080 a0017c0038t0004g0207 a0063c0095t0005g0089	5	369	0.0136	26	c.188 others(43): Show c.1886+563_1886+564insTTATATATTTATATTTTTATATATTT	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
EVC_chr4_5706201_5819305	5816623	C C	CTCCCTCC others(19): Show CTCCCTCCCTCCTTCCCCTCTCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01071.hp2 HG01192.hp1 others(13): Show HG00544.hp2 HG01071.hp2 HG01192.hp1 HG01516.hp1 HG01884.hp2 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02615.hp2 HG03209.hp1 HG03225.hp2 HG03579.hp1 NA19000.hp1 NA19030.hp2	a0001 a0002 a0005 others(7): Show a0001 a0002 a0005 a0006 a0007 a0016 a0020 a0028 a0065 a0067	a0001c0002 a0001c0008 a0002c0016 others(11): Show a0001c0002 a0001c0008 a0002c0016 a0005c0019 a0005c0117 a0006c0010 a0006c0012 a0007c0110 a0016c0034 a0016c0097 a0020c0029 a0028c0116 a0065c0098 a0067c0104	a0001c0002t0003 a0001c0002t0012 a0001c0008t0011 others(12): Show a0001c0002t0003 a0001c0002t0012 a0001c0008t0011 a0002c0016t0002 a0005c0019t0001 a0005c0117t0041 a0006c0010t0009 a0006c0012t0026 a0007c0110t0002 a0016c0034t0015 a0016c0097t0045 a0020c0029t0001 a0028c0116t0002 a0065c0098t0040 a0067c0104t0005	a0001c0002t0003g0287 a0001c0002t0012g0170 a0001c0008t0011g0312 others(13): Show a0001c0002t0003g0287 a0001c0002t0012g0170 a0001c0008t0011g0312 a0002c0016t0002g0030 a0005c0019t0001g0248 a0005c0117t0041g0227 a0006c0010t0009g0077 a0006c0012t0026g0327 a0007c0110t0002g0223 a0016c0034t0015g0307 a0016c0097t0045g0204 a0020c0029t0001g0054 a0020c0029t0001g0056 a0028c0116t0002g0234 a0065c0098t0040g0344 a0067c0104t0005g0264	16	369	0.0434	26	c.55 others(37): Show c.5586_*5587insTCCCTCCCTCCTTCCCCTCTCTCCCT	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		2319		chr4	TogoVar
EVI2A_chr17_31311410_31326622	31322501	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0052 a0001c0001t0034g0052	1	378	0.0027	26	c.-10 others(37): Show c.-1043_-1018dupTTTTTTTTTTTTTTTTTTTTTTTTTT	EVI2A	ENSG00000126860.12	transcript	ENST00000462804.3	protein_coding		880		chr17	TogoVar
EVI5_chr1_92503696_92790108	92669547	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20129.hp1 HG01891.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0071 a0001c0001t0003g0072	2	168	0.0119	26	c.115 others(45): Show c.1159-3556_1159-3555insTTTTTTTTTTTTTTTTTTTTTTTTTT	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	10/19			chr1	TogoVar
EVPLL_chr17_18372778_18394647	18373800	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0003	1	408	0.0025	26	c.-42 others(37): Show c.-4220_-4219insAAAAAAAAAAAAAAAAAAAAAAAAAA	EVPLL	ENSG00000214860.5	transcript	ENST00000399134.5	protein_coding		3977		chr17	TogoVar
EVX2_chr2_176072472_176088962	176084733	A A	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG03225.hp2 HG02976.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0008 a0001c0001t0016 a0001c0002t0008	a0001c0001t0016g0026 a0001c0002t0008g0014 a0001c0001t0016g0026 a0001c0002t0008g0014	2	430	0.0047	26	c.-95 others(35): Show c.-958_-957insCTCTCTCTCTCTCTCTCTCTCTCTCT	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		772		chr2	TogoVar
EXD1_chr15_41177728_41235757	41179555	G G	GGAAGGAA others(19): Show GGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0224 a0001c0002t0001g0224	1	318	0.0031	26	c.43 others(37): Show c.4375_*4376insTCCTTCCTTCCTTCCTTCCTTCCTTC	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding		3172		chr15	TogoVar
EXD3_chr9_137301896_137428162	137408546	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03688.hp2 HG03139.hp1 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0031 a0002c0002t0001g0032	2	82	0.0244	26	c.-47 others(45): Show c.-47-13143_-47-13142insTTTTTTTTTTTTTTTTTTTTTTTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	1/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501407	A A	ATATATAT others(19): Show ATATATATTATATATATCTATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0097 a0002c0005t0002g0097	1	272	0.0037	26	c.238 others(45): Show c.2381-1708_2381-1707insATATATATAGATATATATAATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501443	A A	ATATATAT others(19): Show ATATATATTATATATATCTATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG02738.hp1 others(1): Show HG00099.hp2 HG00639.hp2 HG02738.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0002g0106 a0001c0001t0003g0005 a0001c0001t0003g0122 others(1): Show a0001c0001t0002g0106 a0001c0001t0003g0005 a0001c0001t0003g0122 a0001c0002t0002g0072	4	272	0.0147	26	c.238 others(45): Show c.2381-1744_2381-1743insATATATATAGATATATATAATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501447	C C	CTATTATA others(19): Show CTATTATATATATCTATATATATTATA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	272	0.0037	26	c.238 others(45): Show c.2381-1748_2381-1747insTATAATATATATAGATATATATAATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC4_chr7_133248078_134070761	133558196	C C	CTTTTCTT others(19): Show CTTTTCTTTTCTTTTCTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	102	0.0098	26	c.141 others(47): Show c.1418-71825_1418-71824insTTTTTTCTTTTCTTTTCTTTTCTT TT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133941821	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0039 a0001c0003t0002g0039	1	102	0.0098	26	c.220 others(45): Show c.2206+3757_2206+3782dupTCTCTCTCTCTCTCTCTCTCTCTCTC	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133971361	T T	TATATATA others(19): Show TATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	102	0.0098	26	c.220 others(47): Show c.2207-26130_2207-26129insTATATATATATATAGAGAGAGAGA GA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC5_chr14_57195507_57273905	57262745	G G	GTGTGTAT others(19): Show GTGTGTATATATATACGTATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG00609.hp1 others(72): Show HG00280.hp1 HG00597.hp2 HG00609.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01891.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18944.hp2 NA18956.hp2 NA18979.hp1 NA18991.hp2 NA18995.hp2 NA19001.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19076.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0055 a0001c0002t0002 others(25): Show a0001c0001t0001 a0001c0001t0055 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0016 a0001c0002t0018 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0028 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0041 a0001c0002t0043 a0001c0002t0044 a0001c0005t0008 a0002c0003t0030 a0002c0003t0031 a0002c0003t0032 a0002c0003t0033 a0002c0003t0034	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0045 others(66): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0055g0194 a0001c0002t0002g0001 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0070 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0081 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0096 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0115 a0001c0002t0005g0004 a0001c0002t0005g0071 a0001c0002t0005g0091 a0001c0002t0005g0093 a0001c0002t0005g0095 a0001c0002t0005g0098 a0001c0002t0005g0102 a0001c0002t0008g0005 a0001c0002t0008g0087 a0001c0002t0008g0097 a0001c0002t0008g0108 a0001c0002t0009g0003 a0001c0002t0009g0069 a0001c0002t0009g0082 a0001c0002t0009g0099 a0001c0002t0009g0116 a0001c0002t0011g0067 a0001c0002t0011g0094 a0001c0002t0011g0109 a0001c0002t0011g0110 a0001c0002t0011g0112 a0001c0002t0016g0050 a0001c0002t0016g0051 a0001c0002t0016g0052 a0001c0002t0018g0079 a0001c0002t0018g0088 a0001c0002t0018g0089 a0001c0002t0020g0074 a0001c0002t0021g0103 a0001c0002t0021g0104 a0001c0002t0022g0076 a0001c0002t0022g0101 a0001c0002t0023g0117 a0001c0002t0023g0118 a0001c0002t0024g0068 a0001c0002t0024g0073 a0001c0002t0028g0168 a0001c0002t0036g0111 a0001c0002t0037g0090 a0001c0002t0038g0092 a0001c0002t0039g0080 a0001c0002t0041g0083 a0001c0002t0043g0203 a0001c0002t0044g0072 a0001c0005t0008g0075 a0002c0003t0030g0190 a0002c0003t0031g0187 a0002c0003t0032g0191 a0002c0003t0033g0189 a0002c0003t0034g0188	75	214	0.3505	26	c.27+ others(41): Show c.27+5876_27+5877insTATATATATACGTATATATATACACA	EXOC5	ENSG00000070367.17	transcript	ENST00000621441.5	protein_coding	1/17			chr14	TogoVar
EXOC5_chr14_57195507_57273905	57262756	T T	TATACGTA others(19): Show TATACGTATATATATATGTGTATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0113 a0001c0002t0040g0113	1	214	0.0047	26	c.27+ others(41): Show c.27+5865_27+5866insGTATATACACATATATATATACGTAT	EXOC5	ENSG00000070367.17	transcript	ENST00000621441.5	protein_coding	1/17			chr14	TogoVar
EXOC6B_chr2_72170984_72831033	72224994	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0011 a0001c0002t0003g0011	1	104	0.0096	26	c.219 others(47): Show c.2197-40808_2197-40807insTATATATATATATATATATATATA CA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72224994	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0019 a0001c0002t0024g0019	1	104	0.0096	26	c.219 others(47): Show c.2197-40808_2197-40807insTATATATATATATATATATATACA CA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72224994	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0096 a0001c0003t0003g0096	1	104	0.0096	26	c.219 others(47): Show c.2197-40808_2197-40807insTATATATATATATATATATACACA CA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72307161	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0020 a0001c0006t0020	a0001c0006t0020g0069 a0001c0006t0020g0069	1	104	0.0096	26	c.219 others(47): Show c.2196+27785_2196+27786insAAAAAAAAAAAAAAAAAAAAAAAA AA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72671783	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	104	0.0096	26	c.669 others(45): Show c.669+46294_669+46319dupTTCTTTCTTTCTTTCTTTCTTTCTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72767808	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0081 a0001c0002t0010g0081	1	104	0.0096	26	c.114 others(45): Show c.114-26340_114-26339insTTTTTTTTTTTTTTTTTTTTTTTTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72773120	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0073 a0001c0002t0011g0073	1	104	0.0096	26	c.114 others(45): Show c.114-31652_114-31651insAAAAAAAAAAAAAAAAAAAAAAAAAA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21			chr2	TogoVar
EXOC6_chr10_92843520_93064490	92858022	T T	TCCCCCCC others(19): Show TCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03139.hp2 HG02630.hp1 HG03139.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0161 a0004c0005t0002g0166 a0004c0005t0002g0161 a0004c0005t0002g0166	2	288	0.0069	26	c.101 others(43): Show c.101+9395_101+9396insCCCCCCCCCCCCCCCCCCCCCCCCCC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOSC10_chr1_11061618_11104869	11069244	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02135.hp2 others(4): Show HG01516.hp2 HG01517.hp1 HG02135.hp2 NA18940.hp1 NA18981.hp1 NA18987.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0098 a0001c0001t0001g0101 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0136	7	284	0.0247	26	c.248 others(43): Show c.2488+314_2488+315insTCTCTCTCTCTCTCACACACACACAC	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	22/24			chr1	TogoVar
EXOSC10_chr1_11061618_11104869	11069244	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0190 a0001c0017t0001g0190	1	284	0.0035	26	c.248 others(43): Show c.2488+314_2488+315insTCTCTCTCTCACACACACACACACAC	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	22/24			chr1	TogoVar
EXT1_chr8_117789490_118116826	117809209	G G	GTATAAAT others(19): Show GTATAAATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0098 a0001c0003t0002g0098	1	190	0.0053	26	c.172 others(45): Show c.1723-1833_1723-1832insTATATATATATATATATATATTTATA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	8/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117867260	G G	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp2 HG03225.hp1 HG02886.hp2 HG03098.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0015 a0001c0001t0027 a0001c0013t0018 a0001c0001t0015 a0001c0001t0027 a0001c0013t0018	a0001c0001t0015g0092 a0001c0001t0027g0003 a0001c0013t0018g0164 a0001c0001t0015g0092 a0001c0001t0027g0003 a0001c0013t0018g0164	3	190	0.0158	26	c.963 others(45): Show c.963-30060_963-30059insTTTTTTTTTTTTTTTTTTTTTTTTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117870823	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0139	1	190	0.0053	26	c.963 others(45): Show c.963-33648_963-33623dupTGTGTGTGTGTGTGTGTGTGTGTGTG	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117874575	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0128 a0001c0001t0004g0128	1	190	0.0053	26	c.963 others(45): Show c.963-37375_963-37374insTTTTTTTTTTTTTTTTTTTTTTTTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117965993	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0177 a0001c0001t0064g0177	1	190	0.0053	26	c.963 others(47): Show c.963-128793_963-128792insGTGTGTGTGTGTGTGTGTGTGTGT GT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117973897	A A	AAGAAAAG others(19): Show AAGAAAAGGAAAGGAGGGAAGAAAGGC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	190	0.0053	26	c.962 others(47): Show c.962+136162_962+136187dupGCCTTTCTTCCCTCCTTTCCTTTT CT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar

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