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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
ARPC2_chr2_218212189_218259348	218215618	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01081.hp1 HG01168.hp1 others(8): Show HG00099.hp1 HG01081.hp1 HG01168.hp1 HG01346.hp1 HG01516.hp1 HG03654.hp2 HG03942.hp1 HG04204.hp1 NA18964.hp1 NA19064.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0160 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0190	11	332	0.0331	33	c.-16 others(44): Show c.-1645_-1644insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding					1570		chr2	TogoVar
ARPP21_chr3_35634525_35799486	35667841	A A	AAAGAAGA others(26): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04204.hp1 HG03831.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0234 a0001c0001t0001g0031 a0001c0001t0001g0234	2	266	0.0075	33	c.-21 others(54): Show c.-212-11929_-212-11897dupAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGA		ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ARPP21_chr3_35634525_35799486	35667885	A A	AGAAGAAG others(26): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0215 a0001c0004t0001g0215	1	266	0.0038	33	c.-21 others(54): Show c.-212-11897_-212-11896insAGAAGAAGAAGAAGAAGAAGAGGA AGAGGAAGA		ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ASAP1_chr8_130047104_130448674	130071241	A A	AGATTATA others(26): Show AGATTATAGGTATGAGCCACTGCGCCCAACACTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	308	0.0033	33	c.270 others(52): Show c.2701+5074_2701+5106dupAAGTGTTGGGCGCAGTGGCTCATACC TATAATC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130101732	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02622.hp1 HG01891.hp1 HG02258.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0039	3	308	0.0097	33	c.240 others(52): Show c.2402-9590_2402-9589insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29						chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0200 a0001c0003t0004g0200	1	210	0.0048	33	c.127 others(52): Show c.127-25080_127-25079insAAAAAAAAATATATATATATATATAT ATATATA		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02155.hp2 HG01106.hp1 HG02155.hp2	a0002 a0002	a0002c0001 a0002c0005 a0002c0001 a0002c0005	a0002c0001t0001 a0002c0005t0001 a0002c0001t0001 a0002c0005t0001	a0002c0001t0001g0081 a0002c0005t0001g0132 a0002c0001t0001g0081 a0002c0005t0001g0132	2	210	0.0095	33	c.127 others(52): Show c.127-25080_127-25079insAAAAATATATATATATATATATATAT ATATATA		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	210	0.0048	33	c.127 others(52): Show c.127-25080_127-25079insAAATATATATATATATATATATATAT ATATATA		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397750	A A	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0020 a0001c0003t0004g0020	1	210	0.0048	33	c.268 others(52): Show c.2685-2272_2685-2271insATATATATATATATATATATATTTTT TTTTTTT		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397750	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0175 a0001c0003t0004g0175	1	210	0.0048	33	c.268 others(52): Show c.2685-2272_2685-2271insATATATATATATATATATATTTTTTT TTTTTTT		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB18_chr2_236188459_236269406	236202794	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	250	0.0040	33	c.110 others(52): Show c.1102-6410_1102-6409insATATATATATATATATATATATATTT TTTTTTT		ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	4/5						chr2	TogoVar
ASB18_chr2_236188459_236269406	236237820	G G	GGCGCCGC others(26): Show GGCGCCGCGGCCGCCGGGGCTGGCGTCTGGGTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19085.hp1 NA19085.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0168 a0010c0019t0001g0168	1	250	0.0040	33	c.432 others(40): Show c.432_464dupAGACCCAGACGCCAGCCCCGGCGGCCGCGGCGC	p.Ala others(46): Show p.Ala155_Leu156insAspProAspAlaSerProGlyGlyArgGlyAl a	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	3/6	525/2875	464/1401	155/466			chr2	TogoVar
ASB7_chr15_100597589_100656701	100600551	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02886.hp2 NA18906.hp1 others(1): Show HG02109.hp1 HG02886.hp2 NA18906.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0001t0001 a0001c0001t0002 a0001c0001t0021	a0001c0001t0001g0213 a0001c0001t0002g0216 a0001c0001t0002g0217 others(1): Show a0001c0001t0001g0213 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0021g0190	4	368	0.0109	33	c.-27 others(44): Show c.-2768_-2767insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding					2037		chr15	TogoVar
ASCC1_chr10_72091032_72221276	72218165	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	216	0.0046	33	c.-19 others(44): Show c.-1993_-1992insATATATATTTTTTTTTTTTTTTTTTTTTTTTTT		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					1890		chr10	TogoVar
ASCC3_chr6_100503194_100886329	100608632	T T	TATACTTT others(26): Show TATACTTTATATATATATTTATATATACTTTATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0209 a0003c0004t0001g0209	1	314	0.0032	33	c.478 others(52): Show c.4786-1545_4786-1544insTATAAAGTATATATAAATATATATAT AAAGTAT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608688	T T	TATACTTT others(26): Show TATACTTTATATATATATTTATATATACTTTATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03017.hp2 HG03710.hp2 others(2): Show HG02630.hp2 HG03017.hp2 HG03710.hp2 NA18950.hp1 NA18981.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0005 a0002c0003 a0003c0005	a0002c0003t0002 a0003c0005t0002 a0002c0003t0002 a0003c0005t0002	a0002c0003t0002g0022 a0002c0003t0002g0048 a0002c0003t0002g0059 others(2): Show a0002c0003t0002g0022 a0002c0003t0002g0048 a0002c0003t0002g0059 a0002c0003t0002g0068 a0003c0005t0002g0147	5	314	0.0159	33	c.478 others(52): Show c.4786-1601_4786-1600insTATAAAGTATATATAAATATATATAT AAAGTAT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608716	T T	TATACTTT others(26): Show TATACTTTATATATATATTTATATATACTTTATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01517.hp1 HG02523.hp1 others(2): Show HG00741.hp2 HG01517.hp1 HG02523.hp1 NA18940.hp2 NA19006.hp1	a0002 a0006 a0002 a0006	a0002c0003 a0006c0009 a0002c0003 a0006c0009	a0002c0003t0002 a0006c0009t0004 a0002c0003t0002 a0006c0009t0004	a0002c0003t0002g0009 a0002c0003t0002g0046 a0002c0003t0002g0157 others(2): Show a0002c0003t0002g0009 a0002c0003t0002g0046 a0002c0003t0002g0157 a0002c0003t0002g0159 a0006c0009t0004g0192	5	314	0.0159	33	c.478 others(52): Show c.4786-1629_4786-1628insTATAAAGTATATATAAATATATATAT AAAGTAT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASIP_chr20_34236423_34274344	34253003	C C	CAGCATCT others(26): Show CAGCATCTCAAAGCAGAAACAATTTTTCTTAGTA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	306	0.0033	33	c.-10 others(50): Show c.-10-7361_-10-7329dupAGCATCTCAAAGCAGAAACAATTTTTCT TAGTA		ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258700	A A	ATATATAT others(26): Show ATATATATATATATATATATATACACACACATAC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	306	0.0033	33	c.-10 others(50): Show c.-10-1656_-10-1655insATATATATATATACACACACATACTATA TATAT		ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258700	A A	ATATATAT others(26): Show ATATATATATATATATATATATATACACACATAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18984.hp2 NA18995.hp2 others(1): Show HG00438.hp2 NA18984.hp2 NA18995.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0231 others(1): Show a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0231 a0001c0001t0002g0232	4	306	0.0131	33	c.-10 others(50): Show c.-10-1656_-10-1655insATATATATATATATACACACATACTATA TATAT		ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(26): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	464	0.0022	33	c.42 others(44): Show c.4205_*4206insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC		ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding					3637		chr2	TogoVar
ASS1_chr9_130439961_130506274	130475652	T T	TGGGGTAA others(26): Show TGGGGTAAGAGCGCTTGACCTTCTTACCAAATGG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	374	0.0027	33	c.598 others(50): Show c.598-1216_598-1184dupGGTAAGAGCGCTTGACCTTCTTACCAAA TGGGG		ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
ASTN2_chr9_116418112_117420057	117016645	T T	TGTTACAT others(26): Show TGTTACATATATATAGGTTATATATATATGTTAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0006 a0001c0021t0006	a0001c0021t0006g0056 a0001c0021t0006g0056	1	102	0.0098	33	c.142 others(52): Show c.1424-8387_1424-8386insGTAACATATATATATAACCTATATAT ATGTAAC		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117016647	T T	TGTTACAT others(26): Show TGTTACATATATATAGGTTATATATATATGTTAC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0059	1	102	0.0098	33	c.142 others(52): Show c.1424-8389_1424-8388insGTAACATATATATATAACCTATATAT ATGTAAC		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117048963	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp1 NA20752.hp2 HG00099.hp2 HG01099.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0001 a0001c0002t0004 a0001c0017t0002 a0001c0002t0001 a0001c0002t0004 a0001c0017t0002	a0001c0002t0001g0093 a0001c0002t0004g0062 a0001c0017t0002g0089 a0001c0002t0001g0093 a0001c0002t0004g0062 a0001c0017t0002g0089	3	102	0.0294	33	c.127 others(52): Show c.1277-8999_1277-8998insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22						chr9	TogoVar
ATAD1_chr10_87746512_87823226	87798623	G G	GTGTGTGT others(26): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	360	0.0028	33	c.163 others(50): Show c.163-5869_163-5868insACACACACACACACACACACACACACAC ACACA		ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9						chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(26): Show AAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0239 a0001c0002t0003g0239	1	246	0.0041	33	c.66 others(44): Show c.6623_*6624insCCCTTCCCTTCCCTTCCCTTCCCTTTCCTTCCT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding					3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0002 a0005c0013t0002	a0005c0013t0002g0027 a0005c0013t0002g0027	1	246	0.0041	33	c.902 others(50): Show c.902-2122_902-2121insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27						chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	246	0.0041	33	c.902 others(50): Show c.902-2122_902-2121insCTTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27						chr2	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03486.hp2 HG01993.hp2 HG03486.hp2	a0003 a0009 a0003 a0009	a0003c0002 a0009c0017 a0003c0002 a0009c0017	a0003c0002t0001 a0009c0017t0002 a0003c0002t0001 a0009c0017t0002	a0003c0002t0001g0137 a0009c0017t0002g0092 a0003c0002t0001g0137 a0009c0017t0002g0092	2	278	0.0072	33	c.320 others(50): Show c.320+3437_320+3438insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27						chr8	TogoVar
ATE1_chr10_121735424_121933031	121790971	T T	TGTACATA others(26): Show TGTACATATATGTGTGTATACATACATATATGTG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0145 a0001c0001t0007g0145	1	320	0.0031	33	c.125 others(50): Show c.1258-683_1258-682insCACATATATGTATGTATACACACATATA TGTAC		ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	10/11						chr10	TogoVar
ATE1_chr10_121735424_121933031	121858626	T T	TATATATA others(26): Show TATATATATATAATATATATATTTTATACATATA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0304 a0001c0003t0002g0304	1	320	0.0031	33	c.975 others(52): Show c.975+11347_975+11379dupTATATGTATAAAATATATATATTATA TATATAT		ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	8/11						chr10	TogoVar
ATF4_chr22_39515562_39527683	39523993	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	354	0.0028	33	c.13 others(44): Show c.1391_*1392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		ATF4	ENSG00000128272.18	transcript	ENST00000674920.3	protein_coding					1311		chr22	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCCTT others(26): Show CTTTCCTTCTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp1 HG02055.hp1 HG02922.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0047 a0003c0003t0003g0048 a0003c0003t0003g0047 a0003c0003t0003g0048	2	226	0.0089	33	c.108 others(50): Show c.108+5681_108+5682insTTTCCTTCTTTCTTTTCTTTTCTTTTCT TTTCT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7						chr5	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0034 a0001c0001t0007g0034	1	226	0.0044	33	c.108 others(50): Show c.108+5681_108+5682insTTTCTTTCTTTCTTTCCTTCTTTCTTTC TTTCT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7						chr5	TogoVar
ATG10_chr5_81967023_82261133	81993360	C C	CTTCTTTC others(26): Show CTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0056 a0002c0002t0008g0056	1	226	0.0044	33	c.108 others(50): Show c.108+5688_108+5689insCTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82118400	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG01175.hp2 others(4): Show HG00639.hp1 HG00738.hp2 HG01175.hp2 HG01255.hp1 HG01358.hp2 HG02165.hp2 HG02683.hp1	a0003 a0004 a0007 a0003 a0004 a0007	a0003c0003 a0004c0004 a0007c0007 a0003c0003 a0004c0004 a0007c0007	a0003c0003t0001 a0003c0003t0003 a0004c0004t0002 others(1): Show a0003c0003t0001 a0003c0003t0003 a0004c0004t0002 a0007c0007t0001	a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0191 others(4): Show a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0202 a0003c0003t0003g0207 a0004c0004t0002g0172 a0007c0007t0001g0204	7	226	0.0310	33	c.217 others(52): Show c.217-45994_217-45993insATATATATATATATATATATATATAT ATTATAT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG4B_chr2_241632693_241678857	241638014	C C	CCCTTGCG others(26): Show CCCTTGCGCCTCCGGAGGTTGTGGCTGCACAGGA	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0349	1	410	0.0024	33	c.10+ others(46): Show c.10+299_10+300insTCCGGAGGTTGTGGCTGCACAGGACCTTGCGC C		ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
ATL2_chr2_38288954_38382273	38337486	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02080.hp1 HG01256.hp2 HG02080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0093 a0002c0002t0001g0233 a0001c0001t0002g0093 a0002c0002t0001g0233	2	236	0.0085	33	c.363 others(50): Show c.363+5781_363+5782insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATP10B_chr5_160558120_160857211	160653249	C C	CGTAGTAT others(26): Show CGTAGTATATATACATACGTACATACATACATAG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03688.hp1 HG03704.hp2 others(1): Show HG02155.hp1 HG03688.hp1 HG03704.hp2 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0004 a0001c0002 a0002c0003 a0002c0004	a0001c0002t0044 a0002c0003t0006 a0002c0004t0004 others(1): Show a0001c0002t0044 a0002c0003t0006 a0002c0004t0004 a0002c0004t0032	a0001c0002t0044g0039 a0002c0003t0006g0070 a0002c0004t0004g0233 others(1): Show a0001c0002t0044g0039 a0002c0003t0006g0070 a0002c0004t0004g0233 a0002c0004t0032g0234	4	236	0.0170	33	c.676 others(50): Show c.676-4026_676-3994dupCTATGTATGTATGTACGTATGTATATAT ACTAC		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160654092	G G	GTATATAC others(26): Show GTATATACGTATATACATATATAAATATATGTTA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03130.hp2 HG02895.hp2 HG03130.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0017 a0005c0012t0017	a0005c0012t0017g0186 a0005c0012t0017g0196 a0005c0012t0017g0186 a0005c0012t0017g0196	2	236	0.0085	33	c.676 others(50): Show c.676-4837_676-4836insTAACATATATTTATATATGTATATACGT ATATA		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160704914	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03209.hp1 HG03540.hp1 others(2): Show HG02818.hp1 HG03209.hp1 HG03540.hp1 NA18522.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0023 a0001c0002t0007 others(1): Show a0001c0001t0002 a0001c0001t0023 a0001c0002t0007 a0001c0002t0010	a0001c0001t0002g0004 a0001c0001t0002g0171 a0001c0001t0023g0027 others(2): Show a0001c0001t0002g0004 a0001c0001t0002g0171 a0001c0001t0023g0027 a0001c0002t0007g0153 a0001c0002t0010g0003	5	236	0.0212	33	c.-20 others(54): Show c.-205+11994_-205+11995insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	3/25						chr5	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(26): Show AAGGAAGGAAGGAAGGGAGGGAGGAGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0021 a0000c0008t0021	a0000c0008t0021g0228 a0000c0008t0021g0228	1	267	0.0038	33	c.42 others(44): Show c.4283_*4284insAGGAAGGAAGGAAGGGAGGGAGGAGGGGGAGGG		ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding					1653		chrX	TogoVar
ATP5MC1_chr17_48887787_48900871	48899067	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02970.hp1 HG02970.hp2 others(3): Show HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	6	334	0.0180	33	c.32 others(44): Show c.3298_*3299insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding					3197		chr17	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	418	0.0024	33	c.39+ others(46): Show c.39+492_39+493insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4						chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737113	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(48): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG00741.hp1 HG01109.hp2 HG01192.hp2 HG01256.hp1 HG01358.hp1 HG01516.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02165.hp1 HG02615.hp2 HG02622.hp2 HG03017.hp1 HG03017.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03710.hp2 HG03831.hp2 HG04228.hp1 NA18612.hp1 NA18950.hp2 NA18951.hp1 NA18968.hp1 NA18968.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA19002.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19058.hp1 NA19066.hp2 NA19076.hp1 NA19076.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0002c0012 others(4): Show a0001c0001 a0002c0002 a0002c0012 a0002c0019 a0002c0025 a0002c0046 a0011c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001 a0002c0002t0002 a0002c0012t0001 a0002c0019t0001 a0002c0025t0001 a0002c0046t0001 a0011c0028t0001	a0001c0001t0001g0034 a0001c0001t0001g0062 a0001c0001t0001g0070 others(48): Show a0001c0001t0001g0034 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0101 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0188 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0292 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0326 a0001c0001t0001g0361 a0001c0001t0001g0368 a0001c0001t0002g0154 a0001c0001t0002g0187 a0001c0001t0002g0200 a0001c0001t0002g0297 a0001c0001t0003g0102 a0001c0001t0005g0245 a0001c0001t0005g0246 a0002c0002t0001g0050 a0002c0002t0001g0083 a0002c0002t0001g0112 a0002c0002t0001g0186 a0002c0002t0001g0259 a0002c0002t0001g0262 a0002c0002t0001g0369 a0002c0002t0002g0191 a0002c0012t0001g0081 a0002c0019t0001g0236 a0002c0025t0001g0286 a0002c0046t0001g0367 a0011c0028t0001g0059	51	376	0.1356	33	c.157 others(52): Show c.1572+2426_1572+2427insTATATATATATATATATATATATATA TATATAT		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21						chr7	TogoVar
ATP8B1_chr18_57641426_57808315	57672988	A A	ATATATGT others(26): Show ATATATGTATATATATAAATATACATATATAAAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0307 a0001c0001t0027g0307	1	314	0.0032	33	c.182 others(52): Show c.1820-1409_1820-1408insATTTATATATGTATATTTATATATAT ACATATA		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0118 a0001c0001t0005g0118	1	314	0.0032	33	c.163 others(52): Show c.1630+3758_1630+3759insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27						chr18	TogoVar
ATP9A_chr20_51591514_51773390	51718814	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18906.hp1 HG02257.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0016 a0001c0002t0013 a0001c0002t0016	a0001c0002t0013g0055 a0001c0002t0016g0049 a0001c0002t0013g0055 a0001c0002t0016g0049	2	312	0.0064	33	c.328 others(50): Show c.328-5741_328-5740insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	3/27						chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02738.hp2 HG03710.hp2 HG01361.hp1 HG02738.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070	3	298	0.0101	33	c.119 others(50): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr18	TogoVar

Search by Variant

Search

Search Results (Total: 4928 hits)