Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ARID4A_chr14_58293555_58378876	58337242	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03516.hp2 NA19240.hp2 HG02280.hp2 HG03516.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0139 a0001c0003t0002g0140 a0001c0003t0002g0160 a0001c0003t0002g0139 a0001c0003t0002g0140 a0001c0003t0002g0160	3	294	0.0102	34	c.906 others(51): Show c.906+7076_906+7077insATATATATATATATATATATATATATAT ATATAT	ARID4A	ENSG00000032219.19	transcript	ENST00000355431.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
ARID4A_chr14_58293555_58378876	58337246	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01433.hp2 HG02027.hp1 others(8): Show HG01175.hp2 HG01433.hp2 HG02027.hp1 HG02071.hp1 HG03195.hp1 HG03704.hp1 NA18747.hp2 NA18967.hp1 NA19006.hp2 NA19076.hp1 NA19076.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 a0001c0001t0001 a0001c0003t0002 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0053 a0001c0001t0001g0063 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0167 a0001c0001t0001g0268 a0001c0003t0002g0123 a0002c0002t0001g0129	11	294	0.0374	34	c.906 others(51): Show c.906+7099_906+7100insTATATATATATATATATATATATATATA TATATA	ARID4A	ENSG00000032219.19	transcript	ENST00000355431.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
ARID4B_chr1_235161902_235333179	235223373	A A	ATATATAT others(27): Show ATATATATATACACACGTATATATATATACACACG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18954.hp1 NA18995.hp2 NA18943.hp1 NA18954.hp1 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0113 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0113	3	272	0.0110	34	c.971 others(49): Show c.971-114_971-113insCGTGTGTATATATATATACGTGTGTATATA TATA	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	12/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235255219	C C	CTATATAT others(27): Show CTATATATATATAGAGAGAGAGAGAGAGAGATAGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02647.hp1 HG00642.hp1 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0104 a0002c0003t0001g0122 a0001c0002t0001g0104 a0002c0003t0001g0122	2	272	0.0074	34	c.274 others(49): Show c.274+440_274+441insTCTATCTCTCTCTCTCTCTCTCTATATATA TATA	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	5/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235255219	C C	CTATATAT others(27): Show CTATATATATATATAGAGAGAGAGAGAGAGATAGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02257.hp1 others(2): Show HG01109.hp1 HG02109.hp2 HG02257.hp1 HG02572.hp2 HG02897.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0115 a0002c0003t0001g0118 a0002c0003t0001g0121 others(2): Show a0002c0003t0001g0115 a0002c0003t0001g0118 a0002c0003t0001g0121 a0002c0003t0001g0123 a0002c0003t0001g0124	5	272	0.0184	34	c.274 others(49): Show c.274+440_274+441insTCTATCTCTCTCTCTCTCTCTATATATATA TATA	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	5/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235255219	C C	CTATATAT others(27): Show CTATATATATATATATAGAGAGAGAGAGAGATAGA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	272	0.0037	34	c.274 others(49): Show c.274+440_274+441insTCTATCTCTCTCTCTCTCTATATATATATA TATA	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	5/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235255263	A A	ATAGATAG others(27): Show ATAGATAGATAGATAGATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01978.hp2 HG02735.hp2 others(2): Show HG01433.hp2 HG01978.hp2 HG02735.hp2 HG04204.hp2 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0026 a0001c0002t0001g0031 others(2): Show a0001c0002t0001g0019 a0001c0002t0001g0026 a0001c0002t0001g0031 a0001c0002t0001g0043 a0001c0002t0001g0055	5	272	0.0184	34	c.274 others(49): Show c.274+396_274+397insGATAGATAGATAGATAGATCTATCTATCTA TCTA	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	5/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235255263	A A	ATAGATAG others(27): Show ATAGATAGATAGATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	272	0.0037	34	c.274 others(49): Show c.274+396_274+397insGATAGATAGATAGATAGATAGATCTATCTA TCTA	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	5/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235255269	A A	AGATAGAT others(27): Show AGATAGATCTATCTATCTATCTATCTATCTATCTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	272	0.0037	34	c.274 others(49): Show c.274+390_274+391insGAGATAGATAGATAGATAGATAGATAGATC TATC	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	5/23			chr1	TogoVar
ARK2C_chr18_46329018_46468140	46345085	G G	GGCAGGGG others(27): Show GGCAGGGGTGCCTGGGATGCAGGGGTGCCTGGGAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02809.hp2 HG03209.hp1 others(2): Show HG02451.hp1 HG02809.hp2 HG03209.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0065 a0001c0001t0008 a0001c0001t0065	a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0073 others(2): Show a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0073 a0001c0001t0008g0074 a0001c0001t0065g0198	5	260	0.0192	34	c.61+ others(51): Show c.61+10780_61+10781insGGATGCAGGGGTGCCTGGGATGCAGGGG TGCCTG	ARK2C	ENSG00000141622.14	transcript	ENST00000269439.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARK2N_chr18_46169034_46271992	46250491	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0277 a0001c0001t0007g0277	1	320	0.0031	34	c.899 others(51): Show c.899-3181_899-3180insCACACACACACACACACACACACACACA CACACA	ARK2N	ENSG00000152242.11	transcript	ENST00000615052.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARK2N_chr18_46169034_46271992	46259885	C C	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA19080.hp2 NA18747.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0042 a0001c0001t0004g0036 a0001c0001t0004g0042	2	320	0.0063	34	c.102 others(53): Show c.1026-3030_1026-3029insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	ARK2N	ENSG00000152242.11	transcript	ENST00000615052.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARL14EPL_chr5_116027472_116064489	116040979	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	462	0.0022	34	c.-10 others(51): Show c.-10+8488_-10+8489insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	ARL14EPL	ENSG00000268223.7	transcript	ENST00000686077.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARL14EP_chr11_30318104_30343223	30334208	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	400	0.0025	34	c.554 others(51): Show c.554+1240_554+1241insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ARL14EP	ENSG00000152219.5	transcript	ENST00000282032.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARL5C_chr17_39151894_39171161	39163345	C C	CCTTTCTT others(27): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0331 a0002c0002t0002g0331	1	410	0.0024	34	c.108 others(49): Show c.108-488_108-487insAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	ARL5C	ENSG00000141748.13	transcript	ENST00000269586.12	protein_coding	2/5			chr17	TogoVar
ARL5C_chr17_39151894_39171161	39163346	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01099.hp2 HG01496.hp1 others(5): Show HG00323.hp1 HG01099.hp2 HG01496.hp1 HG02647.hp1 HG03927.hp2 NA18941.hp1 NA18952.hp1 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0013 a0002c0002 a0002c0013	a0002c0002t0002 a0002c0013t0002 a0002c0002t0002 a0002c0013t0002	a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0325 others(3): Show a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0013t0002g0324	8	410	0.0195	34	c.108 others(49): Show c.108-522_108-489dupAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	ARL5C	ENSG00000141748.13	transcript	ENST00000269586.12	protein_coding	2/5			chr17	TogoVar
ARL5C_chr17_39151894_39171161	39163350	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0321 a0002c0002t0002g0321	1	410	0.0024	34	c.108 others(49): Show c.108-526_108-493dupAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	ARL5C	ENSG00000141748.13	transcript	ENST00000269586.12	protein_coding	2/5			chr17	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	434	0.0023	34	c.62 others(45): Show c.6217_*6218insAAAAAAATATATATATATATATATATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARMC10_chr7_103070140_103104759	103099575	C C	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG01074.hp2 HG01261.hp2 others(46): Show HG00733.hp2 HG01074.hp2 HG01261.hp2 HG01358.hp2 HG01934.hp1 HG01975.hp1 HG02056.hp2 HG02071.hp2 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02572.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG03041.hp1 HG03139.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03834.hp1 HG04115.hp2 NA18747.hp1 NA18950.hp1 NA18957.hp1 NA18961.hp2 NA18966.hp1 NA18973.hp2 NA18975.hp1 NA18983.hp1 NA18985.hp2 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA19006.hp2 NA19011.hp1 NA19056.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19072.hp1 NA19077.hp2 NA19081.hp2 NA19090.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0007c0010	a0001c0001t0001 a0001c0001t0015 a0001c0001t0034 others(8): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0034 a0001c0001t0049 a0001c0001t0055 a0001c0001t0068 a0001c0001t0082 a0001c0003t0028 a0002c0002t0001 a0002c0002t0059 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0133 a0001c0001t0001g0163 a0001c0001t0015g0002 a0001c0001t0015g0005 a0001c0001t0015g0014 a0001c0001t0015g0022 a0001c0001t0015g0078 a0001c0001t0015g0108 a0001c0001t0015g0121 a0001c0001t0034g0036 a0001c0001t0049g0026 a0001c0001t0049g0049 a0001c0001t0055g0011 a0001c0001t0068g0005 a0001c0001t0082g0011 a0001c0003t0028g0025 a0002c0002t0001g0063 a0002c0002t0059g0033 a0007c0010t0001g0001	49	390	0.1256	34	c.10 others(45): Show c.1040_*1041insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ARMC10	ENSG00000170632.14	transcript	ENST00000323716.8	protein_coding	7/7	1041	INFO_REALIGN_3_PRIME	chr7	TogoVar
ARMH3_chr10_101840599_102061173	101935174	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA19004.hp1 NA19030.hp1 NA18956.hp1 NA19004.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0090 a0001c0001t0001g0122 a0001c0001t0006g0262 a0001c0001t0001g0090 a0001c0001t0001g0122 a0001c0001t0006g0262	3	262	0.0115	34	c.178 others(53): Show c.1781+4688_1781+4689insATATATATATATATATATATATATAT ATATATAT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	23/25			chr10	TogoVar
ARPC2_chr2_218212189_218259348	218215618	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01255.hp1 HG01515.hp1 others(5): Show HG00408.hp1 HG01255.hp1 HG01515.hp1 NA18939.hp1 NA18953.hp2 NA18988.hp1 NA19005.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0015 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0189	8	332	0.0241	34	c.-16 others(45): Show c.-1645_-1644insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding		1570		chr2	TogoVar
ARSA_chr22_50617754_50633152	50628193	G G	GGGGGCGG others(27): Show GGGGGCGGGGCCGGGGCCGGGGCCGGGGCGGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0029 a0001c0001t0022g0029	1	460	0.0022	34	c.-41 others(43): Show c.-415_-414insGGCCCCGCCCCGGCCCCGGCCCCGGCCCCGCCCC	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding		42		chr22	TogoVar
ARSF_chrX_3036471_3117727	3036683	A A	ATATAAAA others(27): Show ATATAAAATATTATATAAAATATTATATAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG02896.hp2 others(1): Show HG01109.hp1 HG02622.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 others(1): Show a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187	4	193	0.0207	34	c.-50 others(45): Show c.-5009_-5008insTATAAAATATTATATAAAATATTATATAAAATAT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4787		chrX	TogoVar
ARSF_chrX_3036471_3117727	3036685	A A	ATAAAATA others(27): Show ATAAAATATTATATAAAATATTATATATAATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0181 a0002c0004t0001g0182 a0002c0004t0001g0181 a0002c0004t0001g0182	2	193	0.0104	34	c.-50 others(45): Show c.-5007_-5006insTAAAATATTATATAAAATATTATATATAATATTT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4785		chrX	TogoVar
ARSF_chrX_3036471_3117727	3036742	A A	AATATATA others(27): Show AATATATATAATATTATATATAAAATATTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0024 a0004c0011t0001g0024	1	193	0.0052	34	c.-49 others(45): Show c.-4950_-4949insATATATATAATATTATATATAAAATATTATATAT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4728		chrX	TogoVar
ARSF_chrX_3036471_3117727	3073680	A A	AATAAATA others(27): Show AATAAATATATATTATAAATATAGATTTATAATAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	193	0.0052	34	c.161 others(51): Show c.161+1520_161+1553dupTAAATATAGATTTATAATATATAAATAT ATATTA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSH_chrX_3001546_3039111	3036683	A A	ATATAAAA others(27): Show ATATAAAATATTATATAAAATATTATATAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG02897.hp2 HG01109.hp1 HG02622.hp2 HG02897.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0012 a0004c0005t0005g0214 a0004c0005t0005g0012 a0004c0005t0005g0214	3	248	0.0121	34	c.32 others(45): Show c.3298_*3299insTATAAAATATTATATAAAATATTATATAAAATAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2573		chrX	TogoVar
ARSH_chrX_3001546_3039111	3036685	A A	ATAAAATA others(27): Show ATAAAATATTATATAAAATATTATATATAATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0197 a0001c0001t0001g0198	2	248	0.0081	34	c.33 others(45): Show c.3300_*3301insTAAAATATTATATAAAATATTATATATAATATTT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2575		chrX	TogoVar
ARSH_chrX_3001546_3039111	3036742	A A	AATATATA others(27): Show AATATATATAATATTATATATAAAATATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG03579.hp1 HG02572.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0093 a0001c0002t0006g0094 a0001c0002t0006g0093 a0001c0002t0006g0094	2	248	0.0081	34	c.33 others(45): Show c.3357_*3358insATATATATAATATTATATATAAAATATTATATAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2632		chrX	TogoVar
ASAP1_chr8_130047104_130448674	130072790	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	308	0.0033	34	c.270 others(53): Show c.2701+3557_2701+3558insACACACACACACACACACACACACAC ACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0040 a0001c0001t0008g0040	1	308	0.0033	34	c.270 others(53): Show c.2701+3523_2701+3524insGCGCGCGCGCACACACACACACACAC ACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	308	0.0033	34	c.270 others(53): Show c.2701+3523_2701+3524insGCGCGCGCACACACACACACACACAC ACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0151 a0001c0004t0002g0151	1	308	0.0033	34	c.270 others(53): Show c.2701+3523_2701+3524insGCACACACACACACACACACACACAC ACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072825	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGCGCGTGTGCGTGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	308	0.0033	34	c.270 others(53): Show c.2701+3522_2701+3523insTGCGCGCGCGCACGCACACGCGCACA CACACACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130101732	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	308	0.0033	34	c.240 others(53): Show c.2402-9590_2402-9589insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130153333	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0145 a0002c0002t0001g0145	1	308	0.0033	34	c.101 others(51): Show c.1011-529_1011-528insCATATATATATATATATATATATATATA TATATA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	12/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0168 a0002c0001t0001g0168	1	210	0.0048	34	c.127 others(53): Show c.127-25080_127-25079insAAAAAAAAAATATATATATATATATA TATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp2 HG02965.hp1 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0013 a0001c0002t0003 a0001c0002t0013	a0001c0002t0003g0148 a0001c0002t0013g0001 a0001c0002t0003g0148 a0001c0002t0013g0001	2	210	0.0095	34	c.127 others(53): Show c.127-25080_127-25079insAAAATATATATATATATATATATATA TATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254254	T T	TATATATA others(27): Show TATATATATATATATATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0039 a0001c0003t0001g0039	1	210	0.0048	34	c.127 others(53): Show c.127-25062_127-25061insTATATATATATATATATATACATATA TATATACA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254254	T T	TATATATA others(27): Show TATATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0202 a0001c0002t0002g0202	1	210	0.0048	34	c.127 others(53): Show c.127-25062_127-25061insTATATATATATATATATATATATACA CACACACA	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(27): Show ATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0194 a0001c0004t0005g0194	1	210	0.0048	34	c.268 others(53): Show c.2685-2272_2685-2271insATATATATATATATATATATATATAT ATTTTTTT	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(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0021 a0006c0021t0021	a0006c0021t0021g0214 a0006c0021t0021g0214	1	250	0.0040	34	c.110 others(53): Show c.1102-6410_1102-6409insATATATATATATATATATATATTTTT TTTTTTTT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	4/5			chr2	TogoVar
ASB5_chr4_176208673_176274222	176218175	A A	ATATTTGT others(27): Show ATATTTGTATGATATATAAATATATATATTTGTAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0046 a0001c0002t0003g0046	1	410	0.0024	34	c.671 others(51): Show c.671-1167_671-1166insATACAAATATATATATTTATATATCATA CAAATA	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB7_chr15_100597589_100656701	100600551	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG03139.hp2 HG02486.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0214 a0001c0001t0002g0215	2	368	0.0054	34	c.-27 others(45): Show c.-2768_-2767insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding		2037		chr15	TogoVar
ASCC3_chr6_100503194_100886329	100608082	A A	ATATATCG others(27): Show ATATATCGATATACACATATATATACATATATATG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02273.hp1 NA18963.hp2 others(3): Show HG02165.hp2 HG02273.hp1 NA18963.hp2 NA19012.hp1 NA19060.hp2 NA19070.hp2	a0001 a0017 a0001 a0017	a0001c0002 a0017c0031 a0001c0002 a0017c0031	a0001c0002t0003 a0017c0031t0003 a0001c0002t0003 a0017c0031t0003	a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 others(3): Show a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0132 a0017c0031t0003g0110	6	314	0.0191	34	c.478 others(51): Show c.4786-995_4786-994insCATATATATGTATATATATGTGTATATC GATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(27): Show TTATATATATATTTTATATATATATACTTTATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG04184.hp1 HG01361.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0306 a0001c0001t0001g0262 a0001c0001t0001g0306	2	314	0.0064	34	c.478 others(53): Show c.4786-1644_4786-1643insTATATAAAGTATATATATATAAAATA TATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCL1_chr12_102952674_102965513	102962372	T T	TTTTCTTT others(27): Show TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0001 a0006c0010t0001g0001	1	354	0.0028	34	c.30 others(45): Show c.3058_*3059insTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTC	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1860		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962441	T T	TTTCTTTC others(27): Show TTTCTTTCTTTCATTCTTTCTTTCTTTCTTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02056.hp2 NA18954.hp1 HG00735.hp2 HG02056.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	354	0.0085	34	c.31 others(45): Show c.3127_*3128insTTCTTTCTTTCATTCTTTCTTTCTTTCTTTCTTC	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1929		chr12	TogoVar
ASDURF_chr2_189656459_189671401	189665604	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	340	0.0029	34	c.220 others(49): Show c.220+184_220+185insGTGTATATATATATATATATATATATATAT ATAT	ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASH1L_chr1_155330268_155567803	155411578	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0007 a0004c0004t0004g0007	1	182	0.0055	34	c.600 others(53): Show c.6008+4165_6008+4166insATATATATATATATATATATATATAT ATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar

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Search Results (Total: 7994 hits)