Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ARHGEF38_chr4_105547620_105685914	105561434	A A	AGAATGGA others(43): Show AGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0105 a0001c0004t0009g0105	1	186	0.0054	50	c.196 others(67): Show c.196+8477_196+8478insGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAATGGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561439	A A	AGAATGGA others(43): Show AGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp1 HG02886.hp2 others(4): Show HG01884.hp1 HG02723.hp1 HG02886.hp2 HG03041.hp1 HG03195.hp1 HG03486.hp1 NA18962.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0001 a0005c0008 a0001c0002 a0002c0001 a0005c0008	a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 others(3): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0002t0012 a0002c0001t0002 a0005c0008t0001	a0001c0002t0002g0138 a0001c0002t0002g0175 a0001c0002t0003g0142 others(4): Show a0001c0002t0002g0138 a0001c0002t0002g0175 a0001c0002t0003g0142 a0001c0002t0011g0091 a0001c0002t0012g0092 a0002c0001t0002g0155 a0005c0008t0001g0177	7	186	0.0376	50	c.196 others(67): Show c.196+8482_196+8483insGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAATGGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561444	A A	AGAATGGA others(43): Show AGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0094 a0002c0001t0001g0094	1	186	0.0054	50	c.196 others(67): Show c.196+8492_196+8493insGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAATGGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARID1B_chr6_156772378_157215779	157039666	C C	CTTCTTTC others(43): Show CTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0080 a0001c0002t0003g0080	1	150	0.0067	50	c.224 others(71): Show c.2248-44993_2248-44992insTTTCTTTCTTTCTTTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID4B_chr1_235161902_235333179	235296843	A A	AAGGAAGG others(43): Show AAGGAAGGGAGGAAGGGAGGAAGGGAGAGAAAGAGGGAGGGAGGGAGGGA G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03209.hp1 HG03209.hp2 others(2): Show HG00280.hp1 HG03209.hp1 HG03209.hp2 NA18906.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0006 a0001c0001 a0001c0004 a0003c0006	a0001c0001t0001 a0001c0004t0001 a0003c0006t0001 a0001c0001t0001 a0001c0004t0001 a0003c0006t0001	a0001c0001t0001g0190 a0001c0001t0001g0252 a0001c0004t0001g0171 others(2): Show a0001c0001t0001g0190 a0001c0001t0001g0252 a0001c0004t0001g0171 a0003c0006t0001g0152 a0003c0006t0001g0155	5	272	0.0184	50	c.6+3 others(65): Show c.6+30070_6+30071insCTCCCTCCCTCCCTCCCTCTTTCTCTCCCT TCCTCCCTTCCTCCCTTCCT	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	2/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235296843	A A	AAGGGAGG others(43): Show AAGGGAGGGAGGAAGGGAGGAAGGGAGAGAAAGAGGGAGGGAGGGAGGGA G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	272	0.0037	50	c.6+3 others(65): Show c.6+30070_6+30071insCTCCCTCCCTCCCTCCCTCTTTCTCTCCCT TCCTCCCTTCCTCCCTCCCT	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	2/23			chr1	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	434	0.0023	50	c.62 others(61): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA18943.hp1 HG02155.hp2 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0255 a0001c0002t0002g0058 a0001c0002t0002g0255	2	434	0.0046	50	c.62 others(61): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18978.hp2 NA18982.hp2 others(1): Show NA18963.hp2 NA18978.hp2 NA18982.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0059 a0001c0002t0002g0252 others(1): Show a0001c0002t0002g0003 a0001c0002t0002g0059 a0001c0002t0002g0252 a0001c0002t0002g0277	4	434	0.0092	50	c.62 others(61): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARMC10_chr7_103070140_103104759	103099575	C C	CGTGTGTG others(43): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02135.hp1 NA20300.hp1 HG02135.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0041 a0001c0001t0035g0105 a0001c0001t0035g0041 a0001c0001t0035g0105	2	390	0.0051	50	c.10 others(61): Show c.1040_*1041insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	ARMC10	ENSG00000170632.14	transcript	ENST00000323716.8	protein_coding	7/7	1041	INFO_REALIGN_3_PRIME	chr7	TogoVar
ARMC9_chr2_231193631_231381848	231313866	C C	CACCTCAG others(43): Show CACCTCAGCCTCCTTGAGTAGCTGGAACTGCAGGTGTGTGCCACCACTTC T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	200	0.0050	50	c.177 others(71): Show c.1773+17614_1773+17663dupACCTCAGCCTCCTTGAGTAGCTGG AACTGCAGGTGTGTGCCACCACTTCT	ARMC9	ENSG00000135931.19	transcript	ENST00000611582.5	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARSF_chrX_3036471_3117727	3112535	G G	GGGTCCTA others(43): Show GGGTCCTAACGAGAAGAGATAATTACAATCAGGCTACCAGAGGAAGCCTT T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0014 a0001c0009t0001g0015 a0001c0009t0001g0014 a0001c0009t0001g0015	2	193	0.0104	50	c.18 others(57): Show c.18_*67dupGAGGAAGCCTTTGGTCCTAACGAGAAGAGATAATTACA ATCAGGCTACCA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	11/11	68	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSF_chrX_3036471_3117727	3112574	G G	GAGGAAGC others(43): Show GAGGAAGCCTTTGGTCCTAACGAGAAGAGATAATTACAATCAGGCTACCA A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0007 a0001c0015t0007	a0001c0015t0007g0018 a0001c0015t0007g0018	1	193	0.0052	50	c.26 others(57): Show c.26_*75dupCTTTGGTCCTAACGAGAAGAGATAATTACAATCAGGCT ACCAAAGGAAGC	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	11/11	76	INFO_REALIGN_3_PRIME	chrX	TogoVar
ART1_chr11_3640128_3669416	3642981	G G	GCTGAAAG others(43): Show GCTGAAAGCTAGGATTTCTGAGGGTTCTGAAAGCTAGGATTTCTGAGGGT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG03130.hp2 others(1): Show HG02280.hp2 HG02486.hp2 HG03130.hp2 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0001 a0003c0003t0002	a0001c0001t0001g0020 a0003c0003t0001g0059 a0003c0003t0002g0263 others(1): Show a0001c0001t0001g0020 a0003c0003t0001g0059 a0003c0003t0002g0263 a0003c0003t0002g0264	4	394	0.0102	50	c.-22 others(61): Show c.-2251_-2250insCTGAAAGCTAGGATTTCTGAGGGTTCTGAAAGCT AGGATTTCTGAGGGTT	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding		2146		chr11	TogoVar
ART1_chr11_3640128_3669416	3642981	G G	GCTGAAAG others(43): Show GCTGAAAGCTAGGATTTCTGAGGGTTCTGAAAGCTAGGATTTTTGAGGGT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	394	0.0025	50	c.-22 others(61): Show c.-2251_-2250insCTGAAAGCTAGGATTTCTGAGGGTTCTGAAAGCT AGGATTTTTGAGGGTT	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding		2146		chr11	TogoVar
ART5_chr11_3633512_3646992	3642981	G G	GCTGAAAG others(43): Show GCTGAAAGCTAGGATTTCTGAGGGTTCTGAAAGCTAGGATTTCTGAGGGT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG03130.hp2 others(1): Show HG02280.hp2 HG02486.hp1 HG03130.hp2 HG03209.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0006 a0001c0001 a0002c0002 a0007c0006	a0001c0001t0003 a0002c0002t0006 a0007c0006t0001 a0001c0001t0003 a0002c0002t0006 a0007c0006t0001	a0001c0001t0003g0082 a0002c0002t0006g0048 a0002c0002t0006g0049 others(1): Show a0001c0001t0003g0082 a0002c0002t0006g0048 a0002c0002t0006g0049 a0007c0006t0001g0025	4	454	0.0088	50	c.-11 others(61): Show c.-1120_-1119insAACCCTCAGAAATCCTAGCTTTCAGAACCCTCAG AAATCCTAGCTTTCAG	ART5	ENSG00000167311.14	transcript	ENST00000397068.8	protein_coding		990		chr11	TogoVar
ART5_chr11_3633512_3646992	3642981	G G	GCTGAAAG others(43): Show GCTGAAAGCTAGGATTTCTGAGGGTTCTGAAAGCTAGGATTTTTGAGGGT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0025 a0007c0006t0001g0025	1	454	0.0022	50	c.-11 others(61): Show c.-1120_-1119insAACCCTCAAAAATCCTAGCTTTCAGAACCCTCAG AAATCCTAGCTTTCAG	ART5	ENSG00000167311.14	transcript	ENST00000397068.8	protein_coding		990		chr11	TogoVar
ARVCF_chr22_19964896_20021823	19994550	A A	AGATGAAT others(43): Show AGATGAATGGATGGATGGGTGGGTGGGGGGATGGTGGAGGATGAACATAT G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0026 a0004c0026	a0004c0026t0006 a0004c0026t0006	a0004c0026t0006g0107 a0004c0026t0006g0107	1	374	0.0027	50	c.-18 others(67): Show c.-18-3788_-18-3739dupCATATGTTCATCCTCCACCATCCCCCCA CCCACCCATCCATCCATTCATC	ARVCF	ENSG00000099889.14	transcript	ENST00000263207.8	protein_coding	2/19			chr22	TogoVar
ASAP1_chr8_130047104_130448674	130072823	G G	GTGTGTGT others(43): Show GTGTGTGTGTGTGTGTGCGGCCGTGTGCGTGCGCGCTGCGCGCGCGCACG C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	308	0.0033	50	c.270 others(69): Show c.2701+3524_2701+3525insGCGTGCGCGCGCGCAGCGCGCACGCA CACGGCCGCACACACACACACACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(43): Show TGTGTGTGTGTGTGTGTGTGCGCGTGTGCGTGCGCGCGCGCGCGCGCGCA C	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	308	0.0033	50	c.270 others(69): Show c.2701+3523_2701+3524insGTGCGCGCGCGCGCGCGCGCACGCAC ACGCGCACACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(43): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCG C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03098.hp2 HG01496.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0108 a0001c0008t0001g0244 a0001c0001t0001g0108 a0001c0008t0001g0244	2	308	0.0065	50	c.270 others(69): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCGCGCGCGCACAC ACACACACACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(43): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCACG C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	308	0.0033	50	c.270 others(69): Show c.2701+3523_2701+3524insGCGTGCGCGCGCGCGCGCGCACACAC ACACACACACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(43): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCG C	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18940.hp2 HG00735.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0213 a0001c0001t0002g0178 a0001c0001t0002g0213	2	308	0.0065	50	c.270 others(69): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCACACACACACAC ACACACACACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(43): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCG C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	308	0.0033	50	c.270 others(69): Show c.2701+3523_2701+3524insGCGCGCGCGCACACACACACACACAC ACACACACACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130256760	T T	TATATATA others(43): Show TATATATATATATATATATATATATCCTTATATATATATATATATATATC C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0232 a0001c0009t0001g0232	1	308	0.0033	50	c.187 others(69): Show c.187-19767_187-19766insGGATATATATATATATATATATAAGG ATATATATATATATATATATATAT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASB18_chr2_236188459_236269406	236202794	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	250	0.0040	50	c.110 others(69): Show c.1102-6410_1102-6409insATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTTTTT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	4/5			chr2	TogoVar
ASB5_chr4_176208673_176274222	176218836	A A	AATATATA others(43): Show AATATATATTTGTATGATATATAAATATATATATTTGTATGATATATAAA T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0192 a0001c0005t0001g0192	1	410	0.0024	50	c.671 others(67): Show c.671-1877_671-1828dupATTTATATATCATACAAATATATATATT TATATATCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176219419	A A	ATGTATGA others(43): Show ATGTATGATATATAAATATATATATTTGTATGATATATAAATATATATAT T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0329 a0001c0002t0002g0329	1	410	0.0024	50	c.670 others(67): Show c.670+1686_670+1735dupAATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACA	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASCC3_chr6_100503194_100886329	100608401	A A	ATATATAT others(43): Show ATATATATACCTTATATATGTATACCTTATATATATACCTTATATATATT T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02074.hp2 NA18964.hp1 others(1): Show HG00621.hp1 HG02074.hp2 NA18964.hp1 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0002 a0001c0002t0003 a0002c0003t0002	a0001c0002t0003g0079 a0001c0002t0003g0118 a0001c0002t0003g0143 others(1): Show a0001c0002t0003g0079 a0001c0002t0003g0118 a0001c0002t0003g0143 a0002c0003t0002g0066	4	314	0.0127	50	c.478 others(69): Show c.4786-1314_4786-1313insAAATATATATAAGGTATATATATAAG GTATACATATATAAGGTATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASTN1_chr1_176856067_177169712	177149461	T T	TATATATA others(43): Show TATATATATAGTATATATATAGTAAATATATATATAGTATATATATAGTA A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0095 a0002c0004t0003g0095	1	112	0.0089	50	c.283 others(69): Show c.283+14932_283+14933insTTACTATATATATACTATATATATAT TTACTATATATATACTATATATAT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	117060434	G G	GGAAGGAA others(43): Show GGAAGGAAGGAAGGAAGGGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAA A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0079 a0001c0001t0006g0079	1	102	0.0098	50	c.127 others(71): Show c.1277-20470_1277-20469insTTTTCTTTCTTTCTTTCTTTCTCT CTCTCTCTCCCTTCCTTCCTTCCTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ATAD1_chr10_87746512_87823226	87798625	G G	GGTGTGTG others(43): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	360	0.0028	50	c.163 others(67): Show c.163-5871_163-5870insACACACACACACACACACACACACACAC ACACACACACACACACACACAC	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9			chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(43): Show AAGGAAGGAAGGAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGGGAAGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0236 a0001c0002t0003g0236	1	246	0.0041	50	c.66 others(61): Show c.6623_*6624insCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTTCCT TCCTTCCTTCCTTCCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAA G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	246	0.0041	50	c.902 others(67): Show c.902-2122_902-2121insCTTTTTTTTTTTTTTCTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27			chr2	TogoVar
ATE1_chr10_121735424_121933031	121903068	G G	GTTGGCCA others(43): Show GTTGGCCAGACTGGTCTCAAACTCCCTTGGCCAGACTGGTCTCAAACTCC C	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18973.hp2 HG03453.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0218 a0001c0002t0002g0107 a0001c0001t0004g0218 a0001c0002t0002g0107	2	320	0.0063	50	c.584 others(65): Show c.584-449_584-448insGGGAGTTTGAGACCAGTCTGGCCAAGGGAG TTTGAGACCAGTCTGGCCAA	ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	5/11			chr10	TogoVar
ATE1_chr10_121735424_121933031	121903073	C C	CCAGACTG others(43): Show CCAGACTGGTCTCAAACTCCCTTGGACAGACTGGTCTCAAACTCCCTTGG A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0318 a0001c0005t0009g0318	1	320	0.0031	50	c.584 others(65): Show c.584-454_584-453insTCCAAGGGAGTTTGAGACCAGTCTGTCCAA GGGAGTTTGAGACCAGTCTG	ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	5/11			chr10	TogoVar
ATE1_chr10_121735424_121933031	121903073	C C	CCAGACTG others(43): Show CCAGACTGGTCTCAAACTCCCTTGGCCAGACTGGTCTCAAACTCCCTTGG A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02027.hp2 HG02080.hp1 others(11): Show HG00621.hp2 HG02027.hp2 HG02080.hp1 HG03831.hp1 NA18945.hp2 NA18952.hp2 NA18955.hp2 NA18966.hp1 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA19054.hp1 NA19084.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0102 a0001c0001t0001g0117 a0001c0001t0001g0184 others(11): Show a0001c0001t0001g0102 a0001c0001t0001g0117 a0001c0001t0001g0184 a0001c0001t0001g0217 a0001c0002t0001g0115 a0001c0002t0002g0099 a0001c0002t0002g0103 a0001c0002t0002g0116 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0003g0100 a0001c0002t0003g0114	14	320	0.0438	50	c.584 others(65): Show c.584-454_584-453insTCCAAGGGAGTTTGAGACCAGTCTGGCCAA GGGAGTTTGAGACCAGTCTG	ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	5/11			chr10	TogoVar
ATG10_chr5_81967023_82261133	81993360	C C	CTTCTTTT others(43): Show CTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0195 a0004c0004t0002g0195	1	226	0.0044	50	c.108 others(67): Show c.108+5714_108+5715insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG7_chr3_11267397_11562665	11497357	C C	CTATATAT others(43): Show CTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG03209.hp1 homoSapiens_chm13v2.hp1 HG03209.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0013 a0001c0001t0001 a0001c0002t0013	a0001c0001t0001g0092 a0001c0002t0013g0252 a0001c0001t0001g0092 a0001c0002t0013g0252	2	292	0.0069	50	c.208 others(71): Show c.2080-57419_2080-57418insATATATATATATATATATATATAT ATATATATATATATATATATATATAT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718682	G G	GGGTGCAG others(43): Show GGGTGCAGTCACGGATGTCTGCGGAGGGAGACGTCCAGGAAGGAATGGGG C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00438.hp1 others(27): Show HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01167.hp1 HG01358.hp1 HG01496.hp1 HG02257.hp2 HG02280.hp1 HG03041.hp1 HG03471.hp2 HG03831.hp2 HG04184.hp2 NA18906.hp2 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18985.hp2 NA18986.hp2 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19082.hp2 NA19088.hp1 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0007 a0001c0014 others(7): Show a0001c0001 a0001c0007 a0001c0014 a0001c0030 a0002c0002 a0002c0003 a0002c0012 a0004c0015 a0004c0040 a0007c0026	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0001c0014t0001 a0001c0030t0001 a0002c0002t0001 a0002c0003t0001 a0002c0003t0003 a0002c0012t0001 a0004c0015t0001 a0004c0040t0001 a0007c0026t0001	a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0033 others(27): Show a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0098 a0001c0001t0001g0136 a0001c0001t0001g0174 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0002g0187 a0001c0007t0001g0144 a0001c0014t0001g0125 a0001c0030t0001g0204 a0002c0002t0001g0108 a0002c0002t0001g0139 a0002c0003t0001g0150 a0002c0003t0003g0148 a0002c0012t0001g0084 a0004c0015t0001g0002 a0004c0040t0001g0147 a0007c0026t0001g0003	30	376	0.0798	50	c.214 others(69): Show c.2140-2802_2140-2801insGCCCCATTCCTTCCTGGACGTCTCCC TCCGCAGACATCCGTGACTGCACC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138746005	T T	TATATATT others(43): Show TATATATTTATAATATAATATATATTTATAATATATATTATAATATAAAT A	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	376	0.0027	50	c.132 others(67): Show c.1321-726_1321-725insTATTTATATTATAATATATATTATAAAT ATATATTATATTATAAATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	13/21			chr7	TogoVar
ATP6V1B1_chr2_70930900_70970431	70937122	G G	GAGCCAGA others(43): Show GAGCCAGAGGCTCACTGGAGTAAACCAGCATGGCCCGCCACAGCTATGCA A	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18966.hp2 NA19011.hp1 others(2): Show NA18947.hp2 NA18966.hp2 NA19011.hp1 NA19081.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0004 a0001c0002t0001g0113 a0001c0002t0001g0114	5	440	0.0114	50	c.118 others(67): Show c.118+1099_118+1100insAAGCCAGAGGCTCACTGGAGTAAACCAG CATGGCCCGCCACAGCTATGCA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP8A2_chr13_25366974_26030851	25609563	A A	ATTCAAAT others(43): Show ATTCAAATATATATATATATATTTGGATTCAAATATATATATATATTTGG G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0043 a0001c0001t0035g0043	1	122	0.0082	50	c.221 others(71): Show c.2211+19883_2211+19884insATTTGGATTCAAATATATATATAT ATTTGGGTTCAAATATATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57756291	G G	GTATATAT others(43): Show GTATATATATATACATATATATATGTATATATATATATATACATATATAT A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00738.hp1 others(21): Show HG00280.hp1 HG00323.hp1 HG00738.hp1 HG01106.hp2 HG01167.hp1 HG01243.hp1 HG01358.hp2 HG01433.hp1 HG02257.hp1 HG02735.hp1 HG02970.hp1 HG03130.hp1 HG03490.hp2 HG03704.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp1 NA18522.hp2 NA18987.hp1 NA19087.hp2 NA19090.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0014 a0003c0003 others(1): Show a0001c0001 a0001c0014 a0003c0003 a0011c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0027 a0001c0001t0029 a0001c0001t0041 a0001c0014t0008 a0003c0003t0022 a0011c0015t0010	a0001c0001t0001g0035 a0001c0001t0002g0275 a0001c0001t0003g0281 others(21): Show a0001c0001t0001g0035 a0001c0001t0002g0275 a0001c0001t0003g0281 a0001c0001t0004g0034 a0001c0001t0004g0063 a0001c0001t0004g0081 a0001c0001t0004g0094 a0001c0001t0004g0124 a0001c0001t0006g0106 a0001c0001t0008g0142 a0001c0001t0010g0170 a0001c0001t0011g0147 a0001c0001t0011g0154 a0001c0001t0013g0294 a0001c0001t0015g0163 a0001c0001t0015g0166 a0001c0001t0018g0296 a0001c0001t0018g0297 a0001c0001t0027g0310 a0001c0001t0029g0092 a0001c0001t0041g0192 a0001c0014t0008g0123 a0003c0003t0022g0135 a0011c0015t0010g0155	24	314	0.0764	50	c.-25 others(69): Show c.-25-24460_-25-24459insTATATATATGTATATATATATATATA CATATATATATGTATATATATATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP9A_chr20_51591514_51773390	51741034	T T	TTTAATTA others(43): Show TTTAATTAATTAAAAATAAATTTTAATTAATTAATTAAAAATAAATTTTA A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0075 a0001c0010t0003g0075	1	312	0.0032	50	c.69- others(67): Show c.69-11057_69-11056insTTAAAATTTATTTTTAATTAATTAATTA AAATTTATTTTTAATTAATTAA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79245550	A A	AGGAGGGC others(43): Show AGGAGGGCACCACCCTACTGACTGAGGAGGGCACCGCCCTACTGACTGTG C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp2 HG02630.hp2 others(1): Show HG01952.hp2 HG02055.hp2 HG02630.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0003 a0001c0004t0002 a0001c0004t0003	a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 others(1): Show a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 a0001c0004t0003g0098	4	298	0.0134	50	c.110 others(69): Show c.1108-7821_1108-7820insACCCTACTGACTGAGGAGGGCACCGC CCTACTGACTGTGCGGAGGGCACC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79356944	A A	ACCCTGTG others(43): Show ACCCTGTGTGAGGAGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGA C	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	298	0.0034	50	c.290 others(69): Show c.2904-2398_2904-2397insAGGATGCTCTGGGTCTGGAGGTGTCT GTGTGAGGGGACCCCTGTGTGAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115621276	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0112 a0001c0001t0011g0112	1	128	0.0078	50	c.379 others(71): Show c.3795+71741_3795+71742insTATATATATATATATATATATATA TATATAGAGAGAGAGAGAGAGAGAGA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATATATA A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02897.hp1 HG02615.hp1 HG02897.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0016 a0001c0002 a0004c0016	a0001c0002t0004 a0004c0016t0015 a0001c0002t0004 a0004c0016t0015	a0001c0002t0004g0097 a0004c0016t0015g0166 a0001c0002t0004g0097 a0004c0016t0015g0166	2	220	0.0091	50	c.346 others(67): Show c.3469+645_3469+646insTATATATATATATATATATATATATATA TATATATATATATATATAAATA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATR_chr3_142444235_142583733	142496322	A A	ATATATAC others(43): Show ATATATACATATATATATATATGTATATATATATACATGTATATATATAT G	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA19009.hp1 HG01175.hp1 NA19009.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0154 a0001c0004t0001g0155 a0001c0004t0001g0154 a0001c0004t0001g0155	2	322	0.0062	50	c.589 others(65): Show c.5898+38_5898+39insCATATATATATACATGTATATATATATACA TATATATATATATGTATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar

Search by Variant

Search

Search Results