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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
BNC2_chr9_16404503_16875670	16732162	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp2 HG01123.hp2 others(11): Show HG01074.hp1 HG01106.hp2 HG01123.hp2 HG01243.hp1 HG01496.hp2 HG01516.hp1 HG02559.hp2 HG02698.hp2 HG03471.hp1 HG03490.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG06807.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0015 others(1): Show a0001c0001 a0001c0002 a0001c0015 a0010c0009	a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 others(10): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0018 a0001c0001t0025 a0001c0001t0048 a0001c0001t0050 a0001c0001t0054 a0001c0001t0080 a0001c0002t0006 a0001c0002t0067 a0001c0015t0012 a0010c0009t0084	a0001c0001t0003g0016 a0001c0001t0005g0102 a0001c0001t0016g0143 others(11): Show a0001c0001t0003g0016 a0001c0001t0005g0102 a0001c0001t0016g0143 a0001c0001t0018g0095 a0001c0001t0025g0027 a0001c0001t0048g0101 a0001c0001t0050g0097 a0001c0001t0054g0142 a0001c0001t0080g0069 a0001c0002t0006g0070 a0001c0002t0006g0171 a0001c0002t0067g0138 a0001c0015t0012g0123 a0010c0009t0084g0098	14	176	0.0796	15	c.130 others(32): Show c.130-4166_130-4165insCTTTTTTTTTTTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	2/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16780238	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0064 a0001c0001t0021g0064	1	176	0.0057	15	c.4-4 others(30): Show c.4-41754_4-41753insGTTTTTTTTTTTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16780249	A A	AAAACAAA others(8): Show AAAACAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG01433.hp2 others(6): Show HG00558.hp1 HG00621.hp2 HG01433.hp2 HG02615.hp2 HG02698.hp1 HG03098.hp1 NA18963.hp2 NA19030.hp2 NA19060.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0003 others(3): Show a0001c0001 a0001c0005 a0002c0003 a0002c0021 a0003c0008 a0003c0022	a0001c0001t0001 a0001c0001t0081 a0001c0005t0030 others(6): Show a0001c0001t0001 a0001c0001t0081 a0001c0005t0030 a0001c0005t0073 a0002c0003t0001 a0002c0021t0001 a0003c0008t0025 a0003c0008t0100 a0003c0022t0027	a0001c0001t0001g0125 a0001c0001t0081g0083 a0001c0005t0030g0051 others(6): Show a0001c0001t0001g0125 a0001c0001t0081g0083 a0001c0005t0030g0051 a0001c0005t0073g0037 a0002c0003t0001g0006 a0002c0021t0001g0108 a0003c0008t0025g0066 a0003c0008t0100g0072 a0003c0022t0027g0073	9	176	0.0511	15	c.4-4 others(30): Show c.4-41765_4-41764insGTTTTTTTTTTGTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16811230	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02965.hp1 HG03209.hp2 others(3): Show HG02717.hp2 HG02965.hp1 HG03209.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0011 others(1): Show a0001c0001 a0001c0007 a0001c0011 a0001c0020	a0001c0001t0001 a0001c0001t0078 a0001c0001t0096 others(3): Show a0001c0001t0001 a0001c0001t0078 a0001c0001t0096 a0001c0007t0052 a0001c0011t0082 a0001c0020t0107	a0001c0001t0001g0056 a0001c0001t0078g0011 a0001c0001t0096g0055 others(3): Show a0001c0001t0001g0056 a0001c0001t0078g0011 a0001c0001t0096g0055 a0001c0007t0052g0176 a0001c0011t0082g0035 a0001c0020t0107g0118	6	176	0.0341	15	c.3+5 others(30): Show c.3+59415_3+59416insTTTTTTTTTTTTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BOD1L1_chr4_13563738_13632725	13566406	C C	CTTGATCT others(8): Show CTTGATCTGCCAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	258	0.0039	15	c.36 others(26): Show c.3604_*3605insCTCCTGGCAGATCAA	BOD1L1	ENSG00000038219.13	transcript	ENST00000040738.10	protein_coding		2331		chr4	TogoVar
BOD1L1_chr4_13563738_13632725	13569188	C C	CTTCTACC others(8): Show CTTCTACCAATTCATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0132 a0002c0002t0010g0132	1	258	0.0039	15	c.82 others(24): Show c.822_*823insAATGAATTGGTAGAA	BOD1L1	ENSG00000038219.13	transcript	ENST00000040738.10	protein_coding	26/26	822		chr4	TogoVar
BOLA2_chr16_29448593_29459351	29450761	A A	AAATATAT others(8): Show AAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	174	0.0058	15	c.28 others(26): Show c.2871_*2872insATATATATATATATT	BOLA2	ENSG00000183336.9	transcript	ENST00000330978.4	protein_coding		2831		chr16	TogoVar
BOP1_chr8_144257045_144296438	144277805	G G	GGGCAGGG others(8): Show GGGCAGGGGCGGTGCA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01106.hp1 HG01243.hp2 others(13): Show HG00609.hp2 HG01106.hp1 HG01243.hp2 HG01261.hp1 HG01928.hp1 HG02055.hp1 HG02083.hp1 HG02602.hp2 HG02683.hp2 HG04184.hp2 NA18954.hp2 NA18969.hp2 NA19012.hp2 NA19057.hp1 NA19065.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0025 a0001c0001 a0001c0003 a0001c0025	a0001c0001t0001 a0001c0003t0001 a0001c0025t0001 a0001c0001t0001 a0001c0003t0001 a0001c0025t0001	a0001c0001t0001g0096 a0001c0001t0001g0109 a0001c0001t0001g0159 others(13): Show a0001c0001t0001g0096 a0001c0001t0001g0109 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0189 a0001c0001t0001g0230 a0001c0001t0001g0238 a0001c0001t0001g0256 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0342 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0025t0001g0360	16	398	0.0402	15	c.310 others(32): Show c.310-1502_310-1501insTGCACCGCCCCTGCC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144277820	G G	GGGCAGGG others(8): Show GGGCAGGGGCGGTGCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA20905.hp1 HG02109.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0199 a0001c0002t0001g0173 a0001c0001t0001g0199 a0001c0002t0001g0173	2	398	0.0050	15	c.310 others(32): Show c.310-1517_310-1516insTGCACCGCCCCTGCC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144283201	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01256.hp2 others(19): Show HG01069.hp1 HG01071.hp2 HG01256.hp2 HG02015.hp1 HG02074.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG03098.hp1 HG03130.hp1 HG03669.hp2 HG03710.hp1 NA18906.hp1 NA18940.hp1 NA19066.hp1 NA19084.hp2 NA19240.hp2 NA20129.hp2 NA20905.hp1	a0001 a0008 a0017 a0001 a0008 a0017	a0001c0001 a0008c0029 a0017c0024 a0001c0001 a0008c0029 a0017c0024	a0001c0001t0001 a0008c0029t0001 a0017c0024t0001 a0001c0001t0001 a0008c0029t0001 a0017c0024t0001	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0019 others(16): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0065 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0199 a0001c0001t0001g0221 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0341 a0001c0001t0001g0344 a0001c0001t0001g0366 a0008c0029t0001g0204 a0017c0024t0001g0079	22	398	0.0553	15	c.309 others(32): Show c.309+5879_309+5893dupTTTTTTTTTTTTTTT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BORA_chr13_72722923_72761196	72724701	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	388	0.0026	15	c.-33 others(26): Show c.-3322_-3321insTATATATATATATAT	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding		3221		chr13	TogoVar
BORCS8_chr19_19171906_19197152	19177696	G G	GAGAAAAG others(8): Show GAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG01257.hp2 others(3): Show HG00733.hp1 HG00733.hp2 HG01257.hp2 NA18950.hp1 NA18974.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0132 others(3): Show a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0132 a0001c0001t0005g0095 a0001c0001t0005g0106 a0001c0001t0005g0292	6	428	0.0140	15	c.43 others(30): Show c.43-251_*43-237dupTTTCTTTTCTTTTCT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPGM_chr7_134641853_134684816	134658892	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	362	0.0028	15	c.-61 others(32): Show c.-61-2545_-61-2544insTTTTTTTTTTTTTTT	BPGM	ENSG00000172331.12	transcript	ENST00000344924.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
BPGM_chr7_134641853_134684816	134658895	T T	TTTTTTAT others(8): Show TTTTTTATTTTTTTTA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0145 a0001c0001t0010g0145	1	362	0.0028	15	c.-61 others(32): Show c.-61-2547_-61-2546insATTTTTTTTATTTTT	BPGM	ENSG00000172331.12	transcript	ENST00000344924.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
BPIFA2_chr20_33163159_33186412	33171978	G G	GGTAAGAA others(8): Show GGTAAGAACCAGCAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	378	0.0027	15	c.158 others(30): Show c.158-953_158-952insTAAGAACCAGCAAAG	BPIFA2	ENSG00000131050.11	transcript	ENST00000354932.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33231205	G G	GGAAGGAA others(8): Show GGAAGGAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0038	1	416	0.0024	15	c.35 others(26): Show c.3588_*3589insGAAGGAAGAAAGAAA	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		3400		chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33087753	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	344	0.0029	15	c.927 others(32): Show c.927-1212_927-1211insCACACACACACACAA	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFC_chr22_32408845_32469446	32423577	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	422	0.0024	15	c.121 others(34): Show c.1218-4174_1218-4173insACACACACACACACA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424574	T T	TTTCTTCT others(8): Show TTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02615.hp1 HG03492.hp2 HG00738.hp2 HG02615.hp1 HG03492.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0006 a0003c0003 a0006c0006	a0003c0003t0002 a0006c0006t0001 a0003c0003t0002 a0006c0006t0001	a0003c0003t0002g0012 a0006c0006t0001g0072 a0006c0006t0001g0158 a0003c0003t0002g0012 a0006c0006t0001g0072 a0006c0006t0001g0158	3	422	0.0071	15	c.121 others(34): Show c.1218-5185_1218-5171dupGAAGAAGAAGAAGAA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424600	T T	TCTTCTTC others(8): Show TCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	422	0.0024	15	c.121 others(34): Show c.1218-5197_1218-5196insGAGAAGAAGAAGAAG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424638	T T	TCTCCTCC others(8): Show TCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0027 a0006c0006t0001g0027	1	422	0.0024	15	c.121 others(34): Show c.1218-5235_1218-5234insGAGGAGGAGGAGGAG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424642	C C	CTCTTCTT others(8): Show CTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG01346.hp1 others(14): Show HG00140.hp1 HG00438.hp2 HG01346.hp1 HG01515.hp2 HG01934.hp2 HG01981.hp1 HG02015.hp1 HG02071.hp1 HG02083.hp2 HG02148.hp2 HG02735.hp1 HG04204.hp2 NA18947.hp1 NA18955.hp2 NA18963.hp2 NA18970.hp1 NA18978.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0004c0004t0001 a0005c0005t0001	a0001c0001t0001g0335 a0002c0002t0001g0060 a0002c0002t0001g0148 others(14): Show a0001c0001t0001g0335 a0002c0002t0001g0060 a0002c0002t0001g0148 a0002c0002t0001g0151 a0002c0002t0001g0174 a0002c0002t0001g0320 a0002c0002t0001g0359 a0002c0002t0001g0362 a0002c0002t0001g0391 a0002c0002t0002g0119 a0002c0002t0002g0144 a0002c0002t0002g0400 a0004c0004t0001g0286 a0005c0005t0001g0215 a0005c0005t0001g0247 a0005c0005t0001g0252 a0005c0005t0001g0314	17	422	0.0403	15	c.121 others(34): Show c.1218-5253_1218-5239dupAGAAGAAGAAGAAGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424741	C C	CTCTTCTT others(8): Show CTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	422	0.0024	15	c.121 others(34): Show c.1218-5338_1218-5337insAGAAGAAGAAGAAGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424786	T T	TTCCTCTT others(8): Show TTCCTCTTCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	422	0.0024	15	c.121 others(34): Show c.1218-5383_1218-5382insGGAGGAAGAAGAGGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPI_chr20_38299156_38342505	38302460	C C	CAATAATA others(8): Show CAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02145.hp2 HG02486.hp2 others(9): Show HG02080.hp1 HG02145.hp2 HG02486.hp2 HG03540.hp1 HG04228.hp2 NA18943.hp1 NA18974.hp1 NA18985.hp2 NA19009.hp1 NA19074.hp1 NA19075.hp2 NA19079.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0014 a0015	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0014c0016 a0015c0015	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 others(5): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0002 a0014c0016t0002 a0015c0015t0001	a0001c0001t0002g0336 a0001c0001t0002g0342 a0001c0001t0003g0335 others(9): Show a0001c0001t0002g0336 a0001c0001t0002g0342 a0001c0001t0003g0335 a0002c0002t0001g0113 a0002c0002t0001g0120 a0003c0003t0001g0038 a0003c0003t0001g0041 a0004c0004t0001g0096 a0005c0006t0002g0009 a0014c0016t0002g0040 a0015c0015t0001g0307 a0015c0015t0001g0309	12	426	0.0282	15	c.-17 others(26): Show c.-1764_-1763insAATAATAATAATAAT	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding		1695		chr20	TogoVar
BPI_chr20_38299156_38342505	38302496	T T	TAATAATA others(8): Show TAATAATAATAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0261 a0013c0014t0001g0261	1	426	0.0024	15	c.-17 others(26): Show c.-1728_-1727insAATAATAATAATAAA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding		1659		chr20	TogoVar
BPI_chr20_38299156_38342505	38339638	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02451.hp1 HG02451.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0107 a0004c0004t0001g0007 a0002c0002t0001g0107 a0004c0004t0001g0007	2	426	0.0047	15	c.24 others(26): Show c.2454_*2455insAAAAAAAAAAAAAAA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding		2134		chr20	TogoVar
BPNT1_chr1_220052482_220094788	220078547	A A	ATTTATAT others(8): Show ATTTATATATAATTAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00597.hp1 others(40): Show HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG01081.hp1 HG01361.hp1 HG01433.hp2 HG01891.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02135.hp2 HG02165.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02886.hp2 HG03654.hp2 HG03927.hp1 NA18522.hp2 NA18612.hp1 NA18940.hp1 NA18951.hp1 NA18960.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18980.hp2 NA18985.hp1 NA19002.hp2 NA19005.hp1 NA19009.hp1 NA19043.hp1 NA19060.hp2 NA19075.hp2 NA19080.hp1 NA19089.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013	a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(38): Show a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0003g0251 a0001c0001t0004g0004 a0001c0001t0004g0079 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0205 a0001c0001t0004g0243 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0204 a0001c0001t0007g0220 a0001c0001t0013g0337	43	424	0.1014	15	c.120 others(32): Show c.120+1179_120+1180insATAATTATATATAAA	BPNT1	ENSG00000162813.18	transcript	ENST00000322067.12	protein_coding	2/8			chr1	TogoVar
BPNT2_chr8_56952931_56998867	56980852	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	356	0.0028	15	c.388 others(30): Show c.388-656_388-655insGTGTGTGTGTGTGTG	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding	1/4			chr8	TogoVar
BPTF_chr17_67820503_67989378	67843754	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0090 a0001c0003t0003g0090	1	274	0.0037	15	c.614 others(34): Show c.614-10172_614-10158dupTTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTCCT others(8): Show CTTTTCCTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02895.hp2 others(1): Show HG01891.hp2 HG02145.hp1 HG02895.hp2 HG02896.hp2	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0005 a0003c0029 a0014c0028 a0001c0005 a0003c0029 a0014c0028	a0001c0005t0005 a0003c0029t0010 a0014c0028t0009 a0001c0005t0005 a0003c0029t0010 a0014c0028t0009	a0001c0005t0005g0268 a0001c0005t0005g0269 a0003c0029t0010g0098 others(1): Show a0001c0005t0005g0268 a0001c0005t0005g0269 a0003c0029t0010g0098 a0014c0028t0009g0001	4	274	0.0146	15	c.530 others(34): Show c.5304-1579_5304-1578insCCTTTCTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0253 a0002c0002t0002g0253	1	274	0.0037	15	c.530 others(34): Show c.5304-1578_5304-1564dupTTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67979169	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0095 a0001c0003t0003g0095	1	274	0.0037	15	c.872 others(34): Show c.8727-3076_8727-3062dupAAAAAAAAAAAAAAA	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67984630	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01070.hp1 NA19078.hp1 HG00673.hp1 HG01070.hp1 NA19078.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0119 a0002c0002t0002g0182 a0002c0002t0002g0184 a0001c0001t0001g0119 a0002c0002t0002g0182 a0002c0002t0002g0184	3	274	0.0110	15	c.23 others(26): Show c.2342_*2343insTTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding		253		chr17	TogoVar
BRAF_chr7_140714337_140929929	140732170	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	190	0.0053	15	c.240 others(34): Show c.2401+2432_2401+2446dupTTTTTTTTTTTTTTT	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	19/19			chr7	TogoVar
BRAF_chr7_140714337_140929929	140906087	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0089 a0001c0003t0002g0089	1	190	0.0053	15	c.138 others(34): Show c.138+18464_138+18478dupTTTTTTTTTTTTTTT	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19			chr7	TogoVar
BRAF_chr7_140714337_140929929	140914964	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0175 a0001c0001t0004g0175	1	190	0.0053	15	c.138 others(32): Show c.138+9587_138+9601dupCCCCCCCCCCCCCCC	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/19			chr7	TogoVar
BRAF_chr7_140725665_140929929	140732170	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0038 a0001c0002t0051g0038	1	196	0.0051	15	c.24 others(26): Show c.2412_*2426dupTTTTTTTTTTTTTTT	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	18/18	2426		chr7	TogoVar
BRAF_chr7_140725665_140929929	140906087	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0092 a0001c0003t0002g0092	1	196	0.0051	15	c.138 others(34): Show c.138+18464_138+18478dupTTTTTTTTTTTTTTT	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	1/17			chr7	TogoVar
BRAF_chr7_140725665_140929929	140914964	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0180 a0001c0001t0004g0180	1	196	0.0051	15	c.138 others(32): Show c.138+9587_138+9601dupCCCCCCCCCCCCCCC	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	1/17			chr7	TogoVar
BRAP_chr12_111637146_111690956	111667698	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01884.hp1 HG01975.hp1 others(39): Show HG01256.hp1 HG01884.hp1 HG01975.hp1 HG02129.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02451.hp2 HG02622.hp2 HG02717.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03669.hp1 HG03710.hp2 HG04115.hp2 NA18941.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18955.hp1 NA18965.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18992.hp1 NA18994.hp2 NA19004.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19057.hp2 NA19062.hp2 NA19076.hp1 NA19081.hp2 NA19091.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 others(32): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0063 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0180 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0221 a0001c0002t0001g0005 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0048 a0001c0002t0001g0172 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0004g0028	42	364	0.1154	15	c.748 others(32): Show c.748-1926_748-1912dupTTTTTTTTTTTTTTT	BRAP	ENSG00000089234.16	transcript	ENST00000419234.9	protein_coding	5/11			chr12	TogoVar
BRAT1_chr7_2532810_2560524	2534710	T T	TCGCTTCC others(8): Show TCGCTTCCTAGATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0289 a0001c0003t0001g0289	1	424	0.0024	15	c.33 others(26): Show c.3358_*3359insCCCATCTAGGAAGCG	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding		3099		chr7	TogoVar
BRAT1_chr7_2532810_2560524	2545363	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0386 a0001c0010t0004g0386	1	424	0.0024	15	c.283 others(30): Show c.283-322_283-308dupTTTTTTTTTTTTTTT	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	3/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2550669	A A	ACTACACT others(8): Show ACTACACTCTTTCCAT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	424	0.0024	15	c.128 others(32): Show c.128-3206_128-3192dupATGGAAAGAGTGTAG	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	424	0.0024	15	c.127 others(32): Show c.127+2198_127+2199insATATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp2 NA18952.hp1 others(1): Show HG01891.hp2 HG02572.hp2 NA18952.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0029 a0001c0002 a0001c0029	a0001c0002t0001 a0001c0029t0001 a0001c0002t0001 a0001c0029t0001	a0001c0002t0001g0070 a0001c0002t0001g0083 a0001c0002t0001g0117 others(1): Show a0001c0002t0001g0070 a0001c0002t0001g0083 a0001c0002t0001g0117 a0001c0029t0001g0084	4	424	0.0094	15	c.127 others(32): Show c.127+2198_127+2199insAAATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19056.hp1 NA19083.hp1 NA18986.hp2 NA19056.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0002t0001g0078 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0002t0001g0078	3	424	0.0071	15	c.127 others(32): Show c.127+2198_127+2199insAAAAATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552107	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18956.hp1 NA18963.hp2 others(4): Show HG03130.hp1 NA18956.hp1 NA18963.hp2 NA18977.hp1 NA18999.hp2 NA19003.hp2 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0002 a0001c0002t0001g0074 a0001c0002t0001g0100 others(1): Show a0001c0002t0001g0002 a0001c0002t0001g0074 a0001c0002t0001g0100 a0001c0003t0001g0289	7	424	0.0165	15	c.127 others(32): Show c.127+2197_127+2198insTATATATATATATAT	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRCA1_chr17_43039295_43130364	43059469	C C	CACAACAA others(8): Show CACAACAACAACAACA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03195.hp1 HG04199.hp2 HG02572.hp2 HG03195.hp1 HG04199.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0003 a0003c0003t0002 a0003c0003t0003	a0003c0003t0002g0114 a0003c0003t0003g0122 a0003c0003t0003g0128 a0003c0003t0002g0114 a0003c0003t0003g0122 a0003c0003t0003g0128	3	276	0.0109	15	c.519 others(34): Show c.5194-2349_5194-2335dupTGTTGTTGTTGTTGT	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	18/22			chr17	TogoVar
BRCC3_chrX_155066508_155128077	155075292	C C	CCCTGAAA others(8): Show CCCTGAAACTCTTGTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03453.hp2 HG02109.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0060 a0001c0001t0003g0061	2	254	0.0079	15	c.195 others(32): Show c.195+1865_195+1866insAAACTCTTGTACCTG	BRCC3	ENSG00000185515.16	transcript	ENST00000330045.12	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)