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
DROSHA_chr5_31395494_31537093	31421897	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18612.hp1 NA18944.hp1 others(2): Show HG02074.hp1 NA18612.hp1 NA18944.hp1 NA18947.hp2 NA18967.hp2	a0001 a0001	a0001c0003 a0001c0024 a0001c0003 a0001c0024	a0001c0003t0003 a0001c0024t0003 a0001c0003t0003 a0001c0024t0003	a0001c0003t0003g0032 a0001c0003t0003g0063 a0001c0003t0003g0071 others(2): Show a0001c0003t0003g0032 a0001c0003t0003g0063 a0001c0003t0003g0071 a0001c0003t0003g0191 a0001c0024t0003g0072	5	322	0.0155	33	c.342 others(50): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATAT ATATT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421898	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATGCGCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01106.hp1 HG01361.hp2 others(11): Show HG00738.hp1 HG01106.hp1 HG01361.hp2 HG01975.hp1 HG03017.hp1 HG03041.hp1 NA18957.hp1 NA18970.hp2 NA18982.hp2 NA18992.hp2 NA19001.hp1 NA19009.hp2 NA19078.hp2 NA19083.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0029 a0002c0004 a0005c0020 a0008c0036	a0001c0001t0005 a0001c0002t0001 a0001c0003t0003 others(4): Show a0001c0001t0005 a0001c0002t0001 a0001c0003t0003 a0001c0029t0006 a0002c0004t0002 a0005c0020t0001 a0008c0036t0003	a0001c0001t0005g0316 a0001c0001t0005g0318 a0001c0002t0001g0178 others(11): Show a0001c0001t0005g0316 a0001c0001t0005g0318 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0190 a0001c0002t0001g0199 a0001c0002t0001g0207 a0001c0002t0001g0210 a0001c0002t0001g0236 a0001c0003t0003g0061 a0001c0029t0006g0312 a0002c0004t0002g0281 a0005c0020t0001g0264 a0008c0036t0003g0083	14	322	0.0435	33	c.342 others(50): Show c.3420-522_3420-521insGGCGCATATATATATATATATATATATA TATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DSCAML1_chr11_117422772_117802216	117507116	G G	GATAACTC others(26): Show GATAACTCAATTAGGCTGCAGCGACTTCCCCAGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0069 a0002c0069	a0002c0069t0002 a0002c0069t0002	a0002c0069t0002g0189 a0002c0069t0002g0189	1	194	0.0052	33	c.178 others(52): Show c.1784-1417_1784-1385dupGCTGGGGAAGTCGCTGCAGCCTAATT GAGTTAT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	8/32			chr11	TogoVar
DSTN_chr20_17565075_17614919	17583735	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0277 a0001c0001t0005g0277	1	348	0.0029	33	c.3+1 others(48): Show c.3+13547_3+13548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DSTN	ENSG00000125868.16	transcript	ENST00000246069.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTNA_chr18_34705298_34896844	34769725	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	112	0.0089	33	c.148 others(50): Show c.148+3699_148+3700insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTWD2_chr5_118831074_118993547	118850477	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0227 a0001c0001t0014g0227	1	242	0.0041	33	c.598 others(50): Show c.598-2292_598-2260dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	4/5			chr5	TogoVar
DTX2_chr7_76456709_76510991	76486884	C C	CTGCTGCT others(26): Show CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02486.hp1 HG03139.hp1 others(1): Show HG00639.hp2 HG02486.hp1 HG03139.hp1 HG03927.hp1	a0003 a0003	a0003c0004 a0003c0005 a0003c0004 a0003c0005	a0003c0004t0001 a0003c0005t0001 a0003c0004t0001 a0003c0005t0001	a0003c0004t0001g0238 a0003c0004t0001g0246 a0003c0004t0001g0249 others(1): Show a0003c0004t0001g0238 a0003c0004t0001g0246 a0003c0004t0001g0249 a0003c0005t0001g0016	4	280	0.0143	33	c.908 others(50): Show c.908+3740_908+3741insTGCTGCTGCTGCTGCTGCTGCTGCTGCT TTTGC	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
DUSP14_chr17_37484891_37518498	37509104	C C	CCATATAT others(26): Show CCATATATATATATATGTGTGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	421	0.0024	33	c.-18 others(52): Show c.-180-1573_-180-1572insCATATATATATATATGTGTGTATATA TATATAT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2			chr17	TogoVar
DUSP16_chr12_12468282_12567863	12560968	A A	ACACACAC others(26): Show ACACACACACACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0081 a0001c0001t0006g0081	1	352	0.0028	33	c.-36 others(52): Show c.-366+1148_-366+1149insCTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6			chr12	TogoVar
DUXA_chr19_57149021_57172485	57165324	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0072 a0001c0001t0007g0072	1	446	0.0022	33	c.25+ others(48): Show c.25+2094_25+2095insATATATATATATATATATATATATATATAT ATA	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DVL2_chr17_7220342_7239517	7233087	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0159 a0001c0003t0002g0159	1	406	0.0025	33	c.194 others(48): Show c.194+981_194+982insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DVL2	ENSG00000004975.12	transcript	ENST00000005340.10	protein_coding	1/14			chr17	TogoVar
DYM_chr18_49031387_49465645	49252216	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	290	0.0035	33	c.146 others(52): Show c.1460+4793_1460+4794insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17			chr18	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532480	A A	ATGTGTAT others(26): Show ATGTGTATGTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	336	0.0030	33	c.108 others(50): Show c.1080+505_1080+506insATATATATATATATATATATATATACAT ACACA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537971	T T	TATAATAT others(26): Show TATAATATATATATAATTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0258 a0002c0002t0006g0258	1	336	0.0030	33	c.739 others(48): Show c.739-868_739-867insTATATATATATATATAAATTATATATATAT TAT	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
DYNC1LI1_chr3_32520974_32575858	32538011	A A	ATATATAA others(26): Show ATATATAATTTATATATATAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	336	0.0030	33	c.739 others(48): Show c.739-908_739-907insATATATATATATATTATATATATAAATTAT ATA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
DYNC2I1_chr7_158851558_158951189	158915842	C C	CGGTGGTT others(26): Show CGGTGGTTGACATTAAGGATGATTGTGAAACGTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0015 a0002c0019t0015	a0002c0019t0015g0043 a0002c0019t0015g0043	1	274	0.0037	33	c.179 others(52): Show c.1791+1522_1791+1523insGTGGTTGACATTAAGGATGATTGTGA AACGTTG	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158916592	G G	GTCGCTGG others(26): Show GTCGCTGGTTGACATTAAGGATGACTGTGAAACA	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18982.hp1 HG03654.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0079 a0002c0002t0001g0025 a0002c0002t0001g0079	2	274	0.0073	33	c.179 others(52): Show c.1792-2145_1792-2144insCTGGTTGACATTAAGGATGACTGTGA AACATCG	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	33	c.75 others(42): Show c.757_*758insATATATATATATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 homoSapiens_chm13v2.hp1 HG02129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0001 a0001c0001t0001g0034	2	396	0.0051	33	c.75 others(42): Show c.757_*758insAAATATATATATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01123.hp2 HG00423.hp1 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	2	396	0.0051	33	c.75 others(42): Show c.757_*758insAAAAAAATATATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	396	0.0025	33	c.75 others(42): Show c.757_*758insAAAAAAAAAAAAATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYRK1A_chr21_37361773_37531358	37440130	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01975.hp1 HG02145.hp1 others(1): Show HG00673.hp2 HG01975.hp1 HG02145.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0078 a0001c0001t0109 others(1): Show a0001c0001t0013 a0001c0001t0078 a0001c0001t0109 a0001c0001t0113	a0001c0001t0013g0253 a0001c0001t0078g0034 a0001c0001t0109g0166 others(1): Show a0001c0001t0013g0253 a0001c0001t0078g0034 a0001c0001t0109g0166 a0001c0001t0113g0165	4	350	0.0114	33	c.10+ others(50): Show c.10+19769_10+19770insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479612	G G	GTTTTTGT others(26): Show GTTTTTGTTTTTGTTTTTGTTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0036 a0001c0001t0006g0036	1	350	0.0029	33	c.301 others(50): Show c.301-1021_301-1020insGTTTTTGTTTTTGTTTTTGTTTTTTTTT TTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DZIP3_chr3_108584722_108699840	108633680	A A	AGATCTCT others(26): Show AGATCTCTCTCTCTGGATCTATCAGAGTACTTCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0216 a0002c0003t0001g0216	1	318	0.0031	33	c.816 others(48): Show c.816+612_816+644dupCTCTCTCTCTGGATCTATCAGAGTACTTCT GAT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108633717	A A	AGATCTCT others(26): Show AGATCTCTCTCTCTGGATCTATCAGAGTACTTCT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0206 a0001c0001t0009g0206	1	318	0.0031	33	c.816 others(48): Show c.816+658_816+659insGGATCTATCAGAGTACTTCTGATCTCTCTC TCT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108633862	G G	GTACTTCT others(26): Show GTACTTCTGATAGATCTCTCTGGATCTATCAGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00544.hp2 others(80): Show HG00099.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01255.hp2 HG01358.hp2 HG01516.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02300.hp1 HG02451.hp2 HG02602.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 NA18612.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18965.hp1 NA18967.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18981.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19064.hp2 NA19070.hp1 NA19079.hp2 NA19083.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0002t0001 a0004c0005t0005	a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0030 others(80): Show a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0205 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0002g0019 a0001c0001t0002g0073 a0001c0001t0014g0086 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0266 a0004c0005t0005g0018	83	318	0.2610	33	c.816 others(48): Show c.816+811_816+843dupGGATCTATCAGAATACTTCTGATAGATCTC TCT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108633915	T T	TGGATCTA others(26): Show TGGATCTATCAGAATACTTCTGATAGATCTCTCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02630.hp2 HG03139.hp1 HG01192.hp2 HG02630.hp2 HG03139.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0110 a0004c0005t0005g0111 a0004c0005t0005g0112 a0004c0005t0005g0110 a0004c0005t0005g0111 a0004c0005t0005g0112	3	318	0.0094	33	c.816 others(48): Show c.816+843_816+844insGGATCTATCAGAATACTTCTGATAGATCTC TCC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	9/32			chr3	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	366	0.0027	33	c.-29 others(44): Show c.-2977_-2976insATATATATATATATATATATATATATTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
EBF2_chr8_25836725_26050413	25851234	G G	GGTCTGTA others(26): Show GGTCTGTAGGGTTAACATCTTCTCTGAGAGTGCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01257.hp1 HG01346.hp2 others(10): Show HG00735.hp2 HG01257.hp1 HG01346.hp2 HG01496.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02148.hp1 NA18948.hp1 NA18998.hp2 NA19003.hp2 NA19011.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0041 others(10): Show a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0041 a0001c0001t0004g0044 a0001c0001t0004g0059 a0001c0001t0004g0070 a0001c0001t0004g0075 a0001c0001t0004g0090 a0001c0001t0004g0092 a0001c0001t0004g0133 a0001c0001t0012g0162 a0001c0001t0012g0170 a0001c0001t0012g0172	13	220	0.0591	33	c.152 others(50): Show c.1529-506_1529-474dupGGCACTCTCAGAGAAGATGTTAACCCTA CAGAC	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	14/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26005484	A A	AAATATAT others(26): Show AAATATATATTATAAAATATAATATATATTTTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(20): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG01071.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01515.hp2 HG01934.hp2 HG01952.hp2 HG02004.hp2 HG02165.hp2 HG02738.hp2 HG03492.hp2 HG03704.hp2 HG03710.hp1 HG04204.hp1 NA18983.hp1 NA19082.hp1 NA19082.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0009 a0001c0002t0014 a0001c0002t0022 a0001c0002t0023 a0001c0002t0026	a0001c0001t0001g0080 a0001c0001t0002g0022 a0001c0001t0002g0076 others(20): Show a0001c0001t0001g0080 a0001c0001t0002g0022 a0001c0001t0002g0076 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0003g0188 a0001c0001t0004g0075 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0071 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0130 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0009g0003 a0001c0002t0009g0004 a0001c0002t0014g0134 a0001c0002t0022g0069 a0001c0002t0023g0057 a0001c0002t0026g0074	23	220	0.1046	33	c.551 others(52): Show c.551+27600_551+27601insATAAAATATATATTATATTTTATAAT ATATATT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
ECPAS_chr9_111355685_111489383	111468705	T T	TGTGTGTG others(26): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18948.hp1 HG02083.hp1 NA18948.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0279 a0002c0003t0001g0284 a0002c0003t0001g0279 a0002c0003t0001g0284	2	354	0.0057	33	c.22+ others(48): Show c.22+4191_22+4192insCACACACACACACACACACACACACACACA CAC	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
ECSCR_chr5_139443560_139467743	139446475	T T	TTCTTTCT others(26): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	369	0.0027	33	c.24 others(44): Show c.2424_*2425insGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2084		chr5	TogoVar
EDNRA_chr4_147476097_147549954	147504957	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0011 a0001c0001t0027g0011	1	280	0.0036	33	c.421 others(52): Show c.421-14874_421-14873insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02698.hp1 HG02129.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0077 a0001c0001t0002g0061 a0001c0001t0002g0077	2	358	0.0056	33	c.400 others(50): Show c.400-3626_400-3625insATATATATATATTTTTTTTTTTTTTTTT TTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19079.hp1 NA18945.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0254 a0001c0001t0003g0149 a0001c0001t0001g0254 a0001c0001t0003g0149	2	358	0.0056	33	c.291 others(48): Show c.291+332_291+333insTATATATATATATATATATATATATATATA TAT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF2KMT_chr16_5079284_5102795	5080381	A A	AATACCTT others(26): Show AATACCTTATAGCTCTCTTTTTGTTTATGTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	442	0.0023	33	c.52 others(44): Show c.5250_*5251insAGGCACATAAACAAAAAGAGAGCTATAAGGTAT	EEF2KMT	ENSG00000118894.15	transcript	ENST00000427587.9	protein_coding		3902		chr16	TogoVar
EEFSEC_chr3_128148481_128413646	128152895	C C	CGCCCCCC others(26): Show CGCCCCCCCCCCCCGCCCCCCATCCTACCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 NA20752.hp2 HG03490.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0001 a0004c0011t0001 a0001c0001t0001 a0004c0011t0001	a0001c0001t0001g0261 a0004c0011t0001g0251 a0001c0001t0001g0261 a0004c0011t0001g0251	2	272	0.0074	33	c.-61 others(42): Show c.-613_-612insGCCCCCCCCCCCCGCCCCCCATCCTACCCCCCA	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		585		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152895	C C	CGCCCCCC others(26): Show CGCCCCCCCCCCCGCCCCCCATCCTACCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01175.hp2 HG01099.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0256 a0001c0001t0001g0257	2	272	0.0074	33	c.-61 others(42): Show c.-613_-612insGCCCCCCCCCCCGCCCCCCATCCTACCCCCCCA	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		585		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152895	C C	CGCCCCCC others(26): Show CGCCCCCCCCCCCGCCCCCCCATCCTACCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	272	0.0037	33	c.-61 others(42): Show c.-613_-612insGCCCCCCCCCCCGCCCCCCCATCCTACCCCCCA	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		585		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152896	G G	GCCCCCCC others(26): Show GCCCCCCCCCCCGCCCCCCATCCTACCCCCCAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	272	0.0037	33	c.-61 others(42): Show c.-612_-611insCCCCCCCCCCCGCCCCCCATCCTACCCCCCAGT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		584		chr3	TogoVar
EEPD1_chr7_36148254_36306538	36151852	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01257.hp2 HG00673.hp1 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0021 a0001c0001t0005g0015 a0001c0001t0005g0021	2	346	0.0058	33	c.-20 others(44): Show c.-2015_-2014insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		1401		chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	428	0.0023	33	c.107 others(48): Show c.107-670_107-669insATATATATATATATATATATATATATATAT TTT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89881466	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	284	0.0035	33	c.410 others(52): Show c.410+50074_410+50075insTATATATATATATATATATATATATA TATATAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB6_chr22_43523778_43817305	43586340	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0159 a0007c0007t0001g0159	1	290	0.0035	33	c.303 others(52): Show c.3032+3733_3032+3734insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	24/31			chr22	TogoVar
EFHC2_chrX_44142872_44348672	44187135	G G	GTTATATA others(26): Show GTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	221	0.0045	33	c.175 others(52): Show c.1752-8572_1752-8571insTATATATATATATATATATATATATA TATATAA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHD1_chr2_232628604_232687776	232650561	T T	TGAGATTG others(26): Show TGAGATTGCAGGCGTGAGCCACCATGCCCAGCTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03139.hp1 NA18942.hp2 HG03041.hp1 HG03139.hp1 NA18942.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0004t0004 a0003c0005t0002 a0001c0001t0001 a0001c0004t0004 a0003c0005t0002	a0001c0001t0001g0172 a0001c0004t0004g0169 a0003c0005t0002g0015 a0001c0001t0001g0172 a0001c0004t0004g0169 a0003c0005t0002g0015	3	382	0.0079	33	c.303 others(52): Show c.303-12241_303-12240insGAGATTGCAGGCGTGAGCCACCATGC CCAGCTG	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	1/3			chr2	TogoVar
EFNA2_chr19_1280873_1306431	1295990	G G	GTGGGGCC others(26): Show GTGGGGCCAGGGGGGAGTGGGCGGGGCCGCGGAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	294	0.0034	33	c.454 others(48): Show c.454+165_454+197dupATGGGGCCAGGGGGGAGTGGGCGGGGCCGC GGA	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
EFR3B_chr2_25037076_25164135	25046506	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18995.hp2 HG02135.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0112 a0001c0001t0008g0113 a0001c0001t0008g0112 a0001c0001t0008g0113	2	306	0.0065	33	c.7+4 others(46): Show c.7+4203_7+4204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EGF_chr4_109907883_110018766	109932377	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0364 a0001c0001t0004g0364	1	388	0.0026	33	c.128 others(50): Show c.128-8569_128-8568insTATATATATATATATATATATATATATA TATAT	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23			chr4	TogoVar
EHBP1_chr2_62700713_63051487	62957641	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	198	0.0051	33	c.246 others(52): Show c.2460+2003_2460+2004insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

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