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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SYT3_chr19_50616977_50644881	50619912	ATTATTAT others(30): Show ATTATTATTATTATTATTATTATTATACCTGGATAATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18952.hp2 NA19054.hp2 others(1): Show NA18948.hp2 NA18952.hp2 NA19054.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0174	4	388	0.0103	-37	c.25 others(48): Show c.2536_*2572delAATTATCCAGGTATAATAATAATAATAATAATAA TAA		SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding					2064		chr19	TogoVar
SYT3_chr19_50616977_50644881	50629611	AGGAGTCC others(30): Show AGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCG	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18952.hp1 HG02004.hp2 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0087 a0001c0002t0002g0057 a0001c0002t0002g0087	2	388	0.0052	-37	c.106 others(54): Show c.1062+136_1063-100delCGGGTCTGAGGGAGGAGGGGCTGGGGGC CTGGACTCC		SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding	5/10						chr19	TogoVar
TAB3_chrX_30822442_30894254	30868511	TATAGCTT others(30): Show TATAGCTTATATATATATATATATAGCTTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG06807.hp2 NA18906.hp1 HG02970.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0028 a0001c0001t0009g0029 a0001c0001t0009g0032 a0001c0001t0009g0028 a0001c0001t0009g0029 a0001c0001t0009g0032	3	302	0.0099	-37	c.-27 others(54): Show c.-279-999_-279-963delTATATATATAAGCTATATATATATATAT ATAAGCTAT		TAB3	ENSG00000157625.16	transcript	ENST00000288422.4	protein_coding	2/10						chrX	TogoVar
TAF4B_chr18_26221445_26396685	26393430	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0025 a0001c0002t0005g0025	1	274	0.0037	-37	c.34 others(48): Show c.3419_*3455delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		TAF4B	ENSG00000141384.13	transcript	ENST00000269142.10	protein_coding					1746		chr18	TogoVar
TAF9_chr5_69359743_69374520	69368562	TTGTGGGG others(30): Show TTGTGGGGTGGTTAATCTGCACCTCTCAGAAACAGACA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG01884.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	441	0.0045	-37	c.-11 others(54): Show c.-111+864_-111+900delTGTCTGTTTCTGAGAGGTGCAGATTAAC CACCCCACA		TAF9	ENSG00000273841.6	transcript	ENST00000217893.10	protein_coding	1/2						chr5	TogoVar
TAFA3_chr1_112713905_112732235	112720217	CAGGTTCT others(30): Show CAGGTTCTGCTCCTTCCTTGACCCTCAGCTCCCTCCCA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	424	0.0024	-37	c.-59 others(52): Show c.-59-356_-59-320delTTCTGCTCCTTCCTTGACCCTCAGCTCCCT CCCAAGG		TAFA3	ENSG00000184599.14	transcript	ENST00000361886.4	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
TAFA5_chr22_48484553_48756932	48656728	ATTTTTTT others(30): Show ATTTTTTTTTCTTTTGAGATGGAGTCTCTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01258.hp2 NA18952.hp1 HG01258.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0185 a0001c0001t0003g0122 a0001c0001t0001g0185 a0001c0001t0003g0122	2	258	0.0078	-37	c.262 others(55): Show c.262+9992_262+10028delCTTTTGAGATGGAGTCTCTTTTTTTTT TTTTTTTTTT		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TAOK3_chr12_118144801_118377907	118295204	CTAATTTT others(30): Show CTAATTTTTGTATTTTTAATAGAGATGGGGTCTTACCA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	314	0.0032	-37	c.-19 others(58): Show c.-193-28482_-193-28446delTGGTAAGACCCCATCTCTATTAAA AATACAAAAATTA		TAOK3	ENSG00000135090.14	transcript	ENST00000392533.8	protein_coding	1/20						chr12	TogoVar
TAS2R14_chr12_10932410_10944263	10943277	GGTGTGAG others(30): Show GGTGTGAGATGGTACCTCATTGTGGTTTTGATTTGGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	411	0.0024	-37	c.-41 others(48): Show c.-4107_-4071delATCCAAATCAAAACCACAATGAGGTACCATCTCA CAC		TAS2R14	ENSG00000212127.6	transcript	ENST00000537503.2	protein_coding					4015		chr12	TogoVar
TBC1D14_chr4_6904826_7038114	6977925	CGGCCGCC others(30): Show CGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	304	0.0033	-37	c.843 others(56): Show c.843+10505_843+10541delCGCCCCGTCTGAGAAGTGAGGAGACC CTCTGCCTGGC		TBC1D14	ENSG00000132405.19	transcript	ENST00000409757.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D22A_chr22_46757650_47180693	47162624	TGGACCCG others(30): Show TGGACCCGGTGCAGGGAGAGTCGTGGGAATGGGACTGC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0021 a0005c0006t0021	a0005c0006t0021g0019 a0005c0006t0021g0019	1	112	0.0089	-37	c.142 others(58): Show c.1426-10777_1426-10741delTGGGAATGGGACTGCGGACCCGGT GCAGGGAGAGTCG		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCD_chr17_82747065_82950914	82774609	TTCCCAGA others(30): Show TTCCCAGACTTGGCGGCCGGGCAGAGGCACCCCCCACC	T T	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0287 a0001c0001t0026g0287	1	318	0.0031	-37	c.638 others(54): Show c.638+2111_638+2147delTTGGCGGCCGGGCAGAGGCACCCCCCAC CTCCCAGAC		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	6/38					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBX6_chr16_30080793_30096924	30084219	AGCCTCTG others(30): Show AGCCTCTGCTCCATCACAGCCACACACACGCACACGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01928.hp1 HG01993.hp1 others(6): Show HG00423.hp2 HG01928.hp1 HG01993.hp1 NA18939.hp2 NA18947.hp1 NA18950.hp2 NA18953.hp2 NA18960.hp1 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0035 others(1): Show a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0035 a0001c0002t0001g0089	9	384	0.0234	-37	c.19 others(48): Show c.1969_*2005delCTCGTGTGCGTGTGTGTGGCTGTGATGGAGCAGA GGC		TBX6	ENSG00000149922.12	transcript	ENST00000395224.7	protein_coding					1573		chr16	TogoVar
TCF3_chr19_1604292_1657615	1628665	CAGGGGGT others(30): Show CAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAG	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02735.hp1 HG02165.hp2 HG02735.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0008 a0001c0002 a0003c0008	a0001c0002t0002 a0003c0008t0001 a0001c0002t0002 a0003c0008t0001	a0001c0002t0002g0210 a0003c0008t0001g0118 a0001c0002t0002g0210 a0003c0008t0001g0118	2	352	0.0057	-37	c.299 others(54): Show c.299-1276_299-1240delCTGTGAGCTCTGCTGTCCCCTTTCCGCC TCACCCCCT		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCP11L2_chr12_106297733_106352003	106302370	GCTCAGCC others(30): Show GCTCAGCCCCCGCTCAGCCCCCGCTCAGCCCCCGCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04204.hp1 HG04199.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0268 a0001c0001t0010g0269 a0001c0001t0010g0268 a0001c0001t0010g0269	2	344	0.0058	-37	c.-60 others(46): Show c.-606_-570delCTCAGCCCCCGCTCAGCCCCCGCTCAGCCCCCGCTC A		TCP11L2	ENSG00000166046.11	transcript	ENST00000299045.8	protein_coding					362		chr12	TogoVar
TDRD10_chr1_154497219_154553147	154547598	CGAACTGG others(30): Show CGAACTGGTTATCTGAGGGGTTGGGTGAACTGGCTCGG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	332	0.0030	-37	c.102 others(52): Show c.1024-78_1024-42delAACTGGTTATCTGAGGGGTTGGGTGAACTG GCTCGGG		TDRD10	ENSG00000163239.12	transcript	ENST00000368482.8	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
TDRD9_chr14_103923456_104057667	103952208	ATATATAT others(30): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0114 a0001c0024t0002g0114	1	372	0.0027	-37	c.216 others(54): Show c.216-3454_216-3418delATATATATATATTTTTTTTTTTTTTTTT TTTTTTTTT		TDRD9	ENSG00000156414.20	transcript	ENST00000409874.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
TECR_chr19_14524594_14570980	14535532	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	332	0.0030	-37	c.15+ others(52): Show c.15+5823_15+5859delAAAAAAAAAAATATATATATATATATATAT ATATATA		TECR	ENSG00000099797.15	transcript	ENST00000215567.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
TECR_chr19_14524594_14570980	14535534	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG03139.hp1 HG01243.hp1 HG01884.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0281 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0281	3	332	0.0090	-37	c.15+ others(52): Show c.15+5825_15+5861delAAAAAAAAATATATATATATATATATATAT ATATATA		TECR	ENSG00000099797.15	transcript	ENST00000215567.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
TECR_chr19_14524594_14570980	14535536	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01928.hp2 HG01978.hp1 others(2): Show HG01346.hp2 HG01928.hp2 HG01978.hp1 HG02293.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0158 a0001c0001t0001g0252 a0001c0001t0001g0268 others(2): Show a0001c0001t0001g0158 a0001c0001t0001g0252 a0001c0001t0001g0268 a0001c0001t0001g0279 a0001c0002t0001g0082	5	332	0.0151	-37	c.15+ others(52): Show c.15+5827_15+5863delAAAAAAATATATATATATATATATATATAT ATATATA		TECR	ENSG00000099797.15	transcript	ENST00000215567.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
TECR_chr19_14524594_14570980	14535538	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02148.hp2 HG01074.hp1 HG02148.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0277 a0002c0004t0001g0276 a0001c0001t0001g0277 a0002c0004t0001g0276	2	332	0.0060	-37	c.15+ others(52): Show c.15+5829_15+5865delAAAAATATATATATATATATATATATATAT ATATATA		TECR	ENSG00000099797.15	transcript	ENST00000215567.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
TECR_chr19_14524594_14570980	14535540	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	332	0.0030	-37	c.15+ others(52): Show c.15+5831_15+5867delAAATATATATATATATATATATATATATAT ATATATA		TECR	ENSG00000099797.15	transcript	ENST00000215567.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
TECTA_chr11_121096243_121196490	121196185	TGAGTTAA others(30): Show TGAGTTAATTATATGTTAACCAAAGGCAGAAAAAACAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	348	0.0029	-37	c.53 others(48): Show c.5380_*5416delGAGTTAATTATATGTTAACCAAAGGCAGAAAAAA CAA		TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding					4696		chr11	TogoVar
TECTB_chr10_112278400_112310038	112300242	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp2 HG02622.hp1 others(7): Show HG01243.hp1 HG02572.hp2 HG02622.hp1 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0002t0004 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007	a0001c0001t0004g0103 a0001c0001t0004g0137 a0001c0001t0004g0259 others(6): Show a0001c0001t0004g0103 a0001c0001t0004g0137 a0001c0001t0004g0259 a0001c0001t0005g0271 a0001c0002t0004g0284 a0001c0002t0004g0285 a0001c0002t0005g0348 a0001c0002t0007g0037 a0001c0002t0007g0098	10	438	0.0228	-37	c.907 others(52): Show c.907+718_907+754delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAA		TECTB	ENSG00000119913.6	transcript	ENST00000646139.2	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
TECTB_chr10_112278400_112310038	112300291	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	438	0.0023	-37	c.907 others(52): Show c.907+735_907+771delGAAAGAAAGAAAGAAAGAAAGAGAAAGAAA AAAGAAA		TECTB	ENSG00000119913.6	transcript	ENST00000646139.2	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
TERF1_chr8_73003864_73053123	73037776	ATATTATA others(30): Show ATATTATATATAATATATAGTATAATAATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp2 HG02055.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0223 a0001c0001t0002g0228	2	342	0.0059	-37	c.104 others(56): Show c.1040-1339_1040-1303delTATTATATATAATATATAGTATAATA ATATATATATT		TERF1	ENSG00000147601.15	transcript	ENST00000276603.10	protein_coding	8/9						chr8	TogoVar
TERF2_chr16_69350567_69391007	69374627	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01346.hp1 HG01358.hp2 others(8): Show HG01243.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG02896.hp1 HG02897.hp1 NA18964.hp1 NA18985.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0229 a0001c0001t0001g0230 others(7): Show a0001c0001t0001g0034 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259	11	340	0.0324	-37	c.607 others(54): Show c.607-2309_607-2273delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		TERF2	ENSG00000132604.11	transcript	ENST00000254942.8	protein_coding	3/9						chr16	TogoVar
TESK2_chr1_45338883_45496163	45354800	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01952.hp1 HG01074.hp2 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0004 a0001c0002t0002g0006	2	286	0.0070	-37	c.540 others(52): Show c.540+466_540+502delATATATATATATATATATATATTTTTTTTT TTTTTTT		TESK2	ENSG00000070759.17	transcript	ENST00000372086.4	protein_coding	5/10						chr1	TogoVar
TEX11_chrX_70523940_70913711	70906077	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0097 a0003c0003t0001g0097	1	229	0.0044	-37	c.37+ others(52): Show c.37+1639_37+1675delATATATATATATATATATATATATTTTTTT TTTTTTT		TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	2/29						chrX	TogoVar
TEX261_chr2_70980942_70999873	70990216	CGCAGCAA others(30): Show CGCAGCAAGGAGAAGGCCTGCTCAAATAAACAAACTGG	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03579.hp1 NA19030.hp1 HG02886.hp2 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0019 a0001c0002t0018 a0001c0002t0019	a0001c0002t0018g0027 a0001c0002t0019g0034 a0001c0002t0018g0027 a0001c0002t0019g0034	3	432	0.0069	-37	c.305 others(52): Show c.305-437_305-401delCCAGTTTGTTTATTTGAGCAGGCCTTCTCC TTGCTGC		TEX261	ENSG00000144043.13	transcript	ENST00000272438.9	protein_coding	3/5						chr2	TogoVar
TFDP2_chr3_141939428_142154544	141969130	CATATATA others(30): Show CATATATATCCCATATATATGAGATATATATATAACAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0141 a0001c0001t0141	a0001c0001t0141g0076 a0001c0001t0141g0076	1	252	0.0040	-37	c.732 others(52): Show c.732+906_732+942delATGTTATATATATATCTCATATATATGGGA TATATAT		TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12						chr3	TogoVar
THNSL1_chr10_25011612_25031664	25029914	ATTGCCTT others(30): Show ATTGCCTTGTAGAAGGATGCTGTAGTCACATTAGCTGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	412	0.0024	-37	c.44 others(48): Show c.4460_*4496delTTGCCTTGTAGAAGGATGCTGTAGTCACATTAGC TGC		THNSL1	ENSG00000185875.13	transcript	ENST00000376356.5	protein_coding					3251		chr10	TogoVar
THOC2_chrX_123595569_123738052	123734381	GCCGGCCG others(30): Show GCCGGCCGCCCCGTCCGGGAGGTGACGGGCGCCTCTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	251	0.0040	-37	c.-13 others(48): Show c.-1396_-1360delGCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGC CGG		THOC2	ENSG00000125676.20	transcript	ENST00000245838.13	protein_coding					1330		chrX	TogoVar
THSD7A_chr7_11365365_11837198	11549282	ACACTGTT others(30): Show ACACTGTTTGTGTAATGTAAATTACACAAATTACATTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp1 NA20805.hp1 HG00642.hp2 HG01109.hp1 NA20805.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0001c0003 a0009c0069 a0001c0002 a0001c0003 a0009c0069	a0001c0002t0034 a0001c0003t0062 a0009c0069t0063 a0001c0002t0034 a0001c0003t0062 a0009c0069t0063	a0001c0002t0034g0109 a0001c0003t0062g0167 a0009c0069t0063g0179 a0001c0002t0034g0109 a0001c0003t0062g0167 a0009c0069t0063g0179	3	180	0.0167	-37	c.145 others(56): Show c.1454-6202_1454-6166delAAATGTAATTTGTGTAATTTACATTA CACAAACAGTG		THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	4/27						chr7	TogoVar
TIAM1_chr21_31113418_31349261	31210715	GAGAAAGA others(30): Show GAGAAAGAAAGAAAGAGAAAGAAGGAAGGAAGGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0168 a0001c0007t0002g0168	1	212	0.0047	-37	c.221 others(54): Show c.2218-537_2218-501delTTCTCCCTTCCTTCCTTCTTTCTCTTTC TTTCTTTCT		TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	10/27						chr21	TogoVar
TIAM2_chr6_154990315_155262723	155172654	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0001 a0001c0038t0001	a0001c0038t0001g0132 a0001c0038t0001g0132	1	230	0.0044	-37	c.236 others(56): Show c.2362-4160_2362-4124delATATATATATATATATATATATATAT ATATATTTTTT		TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	9/26					INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155172656	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0012 a0012	a0012c0060 a0012c0060	a0012c0060t0005 a0012c0060t0005	a0012c0060t0005g0206 a0012c0060t0005g0206	1	230	0.0044	-37	c.236 others(56): Show c.2362-4158_2362-4122delATATATATATATATATATATATATAT ATATTTTTTTT		TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	9/26					INFO_REALIGN_3_PRIME	chr6	TogoVar
TIMD4_chr5_156914292_156968226	156940592	CCTCTGCC others(30): Show CCTCTGCCCGGCCGCCCCGTCTGGGAGGTGAGGAGCAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02257.hp1 others(9): Show HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03209.hp1 HG03471.hp1 NA18522.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0051 others(9): Show a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0001g0110 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0293 a0005c0006t0001g0239 a0005c0006t0001g0276	12	312	0.0385	-37	c.844 others(54): Show c.844+7787_844+7823delATGCTCCTCACCTCCCAGACGGGGCGGC CGGGCAGAG		TIMD4	ENSG00000145850.9	transcript	ENST00000274532.7	protein_coding	5/8						chr5	TogoVar
TK2_chr16_66503003_66555122	66549110	TCCCTGGC others(30): Show TCCCTGGCCTAAAAACATTTTCCATTTTGGGCGCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	300	0.0033	-37	c.125 others(52): Show c.125-138_125-102delGAGGGCGCCCAAAATGGAAAATGTTTTTAG GCCAGGG		TK2	ENSG00000166548.17	transcript	ENST00000544898.6	protein_coding	1/9						chr16	TogoVar
TLE5_chr19_3047910_3067495	3051698	AAAATTAT others(30): Show AAAATTATATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01168.hp1 HG01169.hp2 others(4): Show HG00735.hp2 HG01168.hp1 HG01169.hp2 HG02622.hp2 HG03130.hp1 HG03540.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0036 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0105 a0001c0001t0001g0256	7	410	0.0171	-37	c.20 others(48): Show c.2084_*2120delATATATATATATATATATATATATATATATATAA TTT		TLE5	ENSG00000104964.15	transcript	ENST00000327141.9	protein_coding					1211		chr19	TogoVar
TLE5_chr19_3047910_3067495	3051705	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA19002.hp2 NA18954.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0002 a0001c0001t0001g0008	2	410	0.0049	-37	c.20 others(48): Show c.2077_*2113delTATATATATATATATATATATATATATATATATA TAT		TLE5	ENSG00000104964.15	transcript	ENST00000327141.9	protein_coding					1204		chr19	TogoVar
TLN2_chr15_62385550_62849631	62689936	CCCCCCCC others(30): Show CCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGA	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0017 a0003c0028t0017	a0003c0028t0017g0041 a0003c0028t0017g0041	1	144	0.0069	-37	c.111 others(56): Show c.1114-2882_1114-2846delTGGGGCGGCTGGCCGACCCCCCCACC TCCCTCCCGGA		TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	12/58					INFO_REALIGN_3_PRIME	chr15	TogoVar
TLN2_chr15_62385550_62849631	62689958	TGGGGCGG others(30): Show TGGGGCGGCTGGCCGACCCCCCCACCTCCCTCCCGGAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02896.hp1 HG02897.hp1 others(1): Show HG02717.hp2 HG02896.hp1 HG02897.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0001c0015 a0002c0042 a0001c0008 a0001c0015 a0002c0042	a0001c0008t0004 a0001c0015t0011 a0002c0042t0001 a0001c0008t0004 a0001c0015t0011 a0002c0042t0001	a0001c0008t0004g0070 a0001c0015t0011g0096 a0001c0015t0011g0097 others(1): Show a0001c0008t0004g0070 a0001c0015t0011g0096 a0001c0015t0011g0097 a0002c0042t0001g0119	4	144	0.0278	-37	c.111 others(56): Show c.1114-2867_1114-2831delACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCG		TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	12/58					INFO_REALIGN_3_PRIME	chr15	TogoVar
TLR6_chr4_38817897_38861817	38858757	GGGAGAGA others(30): Show GGGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0026 a0001c0002t0010g0026	1	408	0.0025	-37	c.-20 others(48): Show c.-2098_-2062delTCCCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTC TCC		TLR6	ENSG00000174130.13	transcript	ENST00000508254.6	protein_coding					1941		chr4	TogoVar
TM4SF19_chr3_196318547_196343388	196335189	GGTGGCCA others(30): Show GGTGGCCAGAGGACAGGGGAGGAGTGCACAGGGAGAGT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0125 a0002c0002t0001g0125	1	370	0.0027	-37	c.-2+ others(52): Show c.-2+3038_-2+3074delACTCTCCCTGTGCACTCCTCCCCTGTCCTC TGGCCAC		TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4						chr3	TogoVar
TMA7_chr3_48435257_48449208	48440566	AAAAAGAG others(30): Show AAAAAGAGGAGCAGAAGAAACTCGAGGAGCTAAAAGCG	A A	frameshift_variant frameshift_variant	HIGH	NA18971.hp1 NA18971.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0001	a0000c0002t0001g0022 a0000c0002t0001g0022	1	390	0.0026	-37	c.101 others(44): Show c.101_137delAAGAGGAGCAGAAGAAACTCGAGGAGCTAAAAGCGAA	p.Lys others(4): Show p.Lys34fs	TMA7	ENSG00000232112.3	transcript	ENST00000438607.2	protein_coding	3/4	141/561	101/195	34/64		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMC1_chr9_72516608_72843297	72841638	TCTCCTCA others(30): Show TCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	182	0.0055	-37	c.56 others(48): Show c.5666_*5702delCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAG ACG		TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding					3342		chr9	TogoVar
TMC4_chr19_54155108_54178160	54172168	CCCTCCTC others(30): Show CCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCGGCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00733.hp2 HG00735.hp2 others(46): Show HG00423.hp2 HG00733.hp2 HG00735.hp2 HG01106.hp1 HG01168.hp2 HG01346.hp1 HG01358.hp1 HG01891.hp1 HG01981.hp1 HG01993.hp2 HG02056.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18906.hp2 NA18940.hp1 NA18948.hp2 NA18953.hp1 NA18960.hp2 NA18977.hp2 NA18990.hp2 NA19002.hp2 NA19009.hp2 NA19043.hp1 NA19057.hp2 NA19062.hp1 NA19065.hp1 NA19083.hp2 NA19088.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0009	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0003c0005 a0004c0004 a0007c0008 a0009c0014	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 others(4): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0003c0005t0001 a0004c0004t0002 a0007c0008t0002 a0009c0014t0002	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(45): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0235 a0002c0002t0002g0341 a0002c0002t0002g0342 a0002c0002t0002g0343 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0005t0001g0234 a0004c0004t0002g0006 a0004c0004t0002g0344 a0004c0004t0002g0348 a0004c0004t0002g0349 a0004c0004t0002g0350 a0004c0004t0002g0351 a0004c0004t0002g0352 a0004c0004t0002g0355 a0004c0004t0002g0357 a0004c0004t0002g0358 a0004c0004t0002g0359 a0004c0004t0002g0361 a0004c0004t0002g0362 a0004c0004t0002g0363 a0004c0004t0002g0364 a0004c0004t0002g0365 a0004c0004t0002g0366 a0004c0004t0002g0367 a0004c0004t0002g0368 a0004c0004t0002g0369 a0004c0004t0002g0370 a0004c0004t0002g0371 a0004c0004t0002g0372 a0004c0004t0002g0373 a0004c0004t0002g0374 a0004c0004t0002g0376 a0004c0004t0002g0377 a0004c0004t0002g0378 a0007c0008t0002g0345 a0007c0008t0002g0346 a0007c0008t0002g0347 a0007c0008t0002g0353 a0007c0008t0002g0354 a0007c0008t0002g0356 a0007c0008t0002g0360 a0007c0008t0002g0375 a0009c0014t0002g0395 a0009c0014t0002g0396	49	407	0.1204	-37	c.80- others(49): Show c.80-122_80-86delAGCCGGGGGCCTGGACTCCTGGGTCTGAGGGAG GAGG		TMC4	ENSG00000167608.12	transcript	ENST00000619895.5	protein_coding	1/14						chr19	TogoVar
TMC4_chr19_54155108_54178160	54174659	CTCCCTCC others(30): Show CTCCCTCCTCCCTCAGATCCAGGAGTCCAGACCCCACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0361 a0004c0004t0002g0361	1	407	0.0025	-37	c.-15 others(48): Show c.-1579_-1543delAGTGGGGTCTGGACTCCTGGATCTGAGGGAGGAG GGA		TMC4	ENSG00000167608.12	transcript	ENST00000619895.5	protein_coding					1500		chr19	TogoVar
TMC4_chr19_54155108_54178160	54174684	TCCAGACC others(30): Show TCCAGACCCCACTTCCCTCCTCCCTCAGATCCAGGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0328 a0002c0002t0002g0328	1	407	0.0025	-37	c.-16 others(48): Show c.-1604_-1568delTCTCCTGGATCTGAGGGAGGAGGGAAGTGGGGTC TGG		TMC4	ENSG00000167608.12	transcript	ENST00000619895.5	protein_coding					1525		chr19	TogoVar

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Search Results (Total: 1847 hits)