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
BMPER_chr7_33900539_34161427	34129602	G G	GAGAGAGA others(28): Show GAGAGAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0171 a0001c0008t0004g0171	1	232	0.0043	35	c.174 others(56): Show c.1746-13621_1746-13620insGAGAGAGAGAGAAGAGAGAGAGAG AGAAAGAGAGA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	AAGAACAG others(28): Show AAGAACAGAACAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02055.hp2 HG02818.hp1 others(6): Show HG01257.hp1 HG02055.hp2 HG02818.hp1 HG02976.hp1 HG03486.hp1 NA18952.hp2 NA18960.hp2 NA18969.hp2 NA18977.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0006 a0001c0012 others(2): Show a0001c0002 a0001c0006 a0001c0012 a0001c0014 a0004c0011	a0001c0002t0002 a0001c0002t0008 a0001c0002t0017 others(5): Show a0001c0002t0002 a0001c0002t0008 a0001c0002t0017 a0001c0006t0020 a0001c0012t0009 a0001c0014t0001 a0004c0011t0004 a0004c0011t0011	a0001c0002t0002g0065 a0001c0002t0002g0119 a0001c0002t0008g0214 others(6): Show a0001c0002t0002g0065 a0001c0002t0002g0119 a0001c0002t0008g0214 a0001c0002t0017g0252 a0001c0006t0020g0177 a0001c0012t0009g0242 a0001c0014t0001g0118 a0004c0011t0004g0318 a0004c0011t0011g0013	9	386	0.0233	35	c.377 others(52): Show c.377-7546_377-7545insAACAGAACAGAACAGAACAGAACAGAAC AGAACAG	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	AAGAACAG others(28): Show AAGAACAGAACAGAACAGAACAGAACAGAACAGAGC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0210 a0001c0002t0008g0210	1	386	0.0026	35	c.377 others(52): Show c.377-7546_377-7545insAGCAGAACAGAACAGAACAGAACAGAAC AGAACAG	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	ACAGAAAG others(28): Show ACAGAAAGAACAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01433.hp1 HG01433.hp2 others(6): Show HG00558.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 NA18944.hp1 NA18944.hp2 NA18967.hp1 NA18989.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0008 a0001c0002 a0001c0005 a0001c0008	a0001c0002t0002 a0001c0002t0008 a0001c0002t0022 others(2): Show a0001c0002t0002 a0001c0002t0008 a0001c0002t0022 a0001c0005t0006 a0001c0008t0004	a0001c0002t0002g0301 a0001c0002t0002g0331 a0001c0002t0008g0366 others(6): Show a0001c0002t0002g0301 a0001c0002t0002g0331 a0001c0002t0008g0366 a0001c0002t0022g0269 a0001c0005t0006g0303 a0001c0008t0004g0041 a0001c0008t0004g0066 a0001c0008t0004g0282 a0001c0008t0004g0283	9	386	0.0233	35	c.377 others(52): Show c.377-7578_377-7577insCAGAAAGAACAGAACAGAACAGAACAGA ACAGAAC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19			chr3	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	ACAGAACA others(28): Show ACAGAACAGAAAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0011 a0001c0018t0011	a0001c0018t0011g0150 a0001c0018t0011g0150	1	386	0.0026	35	c.377 others(52): Show c.377-7578_377-7577insCAGAACAGAAAGAACAGAACAGAACAGA ACAGAAC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19			chr3	TogoVar
BOP1_chr8_144257045_144296438	144262803	G G	GCCCCCCC others(28): Show GCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01256.hp1 HG00609.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0213 a0001c0001t0001g0085 a0001c0001t0001g0213	2	398	0.0050	35	c.189 others(50): Show c.1894+49_1894+50insGGCGGTGTACCCTGCAGGTGAGGGGTGGGG GGGGG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144262803	G G	GCCCCCCC others(28): Show GCCCCCCCCCCACCCCTCACCTGCAGGGTACACCGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00597.hp2 others(15): Show HG00140.hp2 HG00408.hp2 HG00597.hp2 HG00642.hp1 HG00741.hp1 HG01081.hp2 HG01261.hp2 HG01433.hp2 HG01928.hp1 HG02071.hp1 HG02523.hp1 HG02698.hp2 HG02738.hp1 HG03831.hp1 HG04204.hp2 NA18966.hp1 NA18994.hp1 NA18994.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0030 a0001c0001 a0007c0030	a0001c0001t0001 a0007c0030t0001 a0001c0001t0001 a0007c0030t0001	a0001c0001t0001g0063 a0001c0001t0001g0089 a0001c0001t0001g0101 others(15): Show a0001c0001t0001g0063 a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0203 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0278 a0001c0001t0001g0285 a0001c0001t0001g0351 a0007c0030t0001g0376	18	398	0.0452	35	c.189 others(50): Show c.1894+49_1894+50insGCGGTGTACCCTGCAGGTGAGGGGTGGGGG GGGGG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BORCS8_chr19_19171906_19197152	19177696	G G	GAGAAAAG others(28): Show GAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03041.hp2 HG02622.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0048 a0001c0001t0001g0049	2	428	0.0047	35	c.43 others(50): Show c.43-271_*43-237dupTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPIFC_chr22_32408845_32469446	32424654	T T	TCCTCCTC others(28): Show TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0162 a0003c0003t0002g0162	1	422	0.0024	35	c.121 others(54): Show c.1218-5251_1218-5250insGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424660	T T	TCCTCCTC others(28): Show TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0361 a0014c0016t0001g0361	1	422	0.0024	35	c.121 others(54): Show c.1218-5257_1218-5256insGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424663	T T	TCCTCCTC others(28): Show TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	422	0.0024	35	c.121 others(54): Show c.1218-5260_1218-5259insGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424684	T T	TCCTCCTC others(28): Show TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0311 a0003c0003t0001g0311	1	422	0.0024	35	c.121 others(54): Show c.1218-5281_1218-5280insGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPNT2_chr8_56952931_56998867	56956044	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	356	0.0028	35	c.77 others(46): Show c.7748_*7749insATATATATATATATATATATATATATATATATAT A	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding		1886		chr8	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03927.hp1 HG02132.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0205 a0002c0002t0002g0214 a0002c0002t0002g0205 a0002c0002t0002g0214	2	274	0.0073	35	c.530 others(54): Show c.5304-1564_5304-1563insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRCA1_chr17_43039295_43130364	43100558	G G	GTATATAT others(28): Show GTATATATATATAACATATATATAACATATATATGT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03130.hp2 HG02896.hp2 HG03130.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0004 a0003c0003t0002 a0003c0003t0004	a0003c0003t0002g0133 a0003c0003t0004g0119 a0003c0003t0002g0133 a0003c0003t0004g0119	2	276	0.0073	35	c.442 others(50): Show c.442-679_442-678insACATATATATGTTATATATATGTTATATAT ATATA	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRCA1_chr17_43039295_43130364	43100560	A A	ATATATAT others(28): Show ATATATATATATAACATATATATAACATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03471.hp2 HG03492.hp2 others(2): Show HG02559.hp2 HG03471.hp2 HG03492.hp2 NA18940.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0014 a0002c0002t0002g0072 a0002c0002t0003g0029 others(2): Show a0002c0002t0002g0014 a0002c0002t0002g0072 a0002c0002t0003g0029 a0002c0002t0003g0030 a0002c0002t0003g0086	5	276	0.0181	35	c.442 others(50): Show c.442-715_442-681dupATATATATATGTTATATATATGTTATATAT ATATA	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRCA1_chr17_43039295_43130364	43100644	A A	ACATATAT others(28): Show ACATATATATAACATATATATATGTTATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0108 a0003c0003t0003g0108	1	276	0.0036	35	c.442 others(50): Show c.442-765_442-764insATATATATATAACATATATATATGTTATAT ATATG	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRCA1_chr17_43039295_43130364	43100659	T T	TATATATA others(28): Show TATATATATGTTATATATATATAACATATATATAAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18964.hp1 NA18964.hp2 NA18955.hp1 NA18964.hp1 NA18964.hp2	a0002 a0021 a0002 a0021	a0002c0002 a0021c0028 a0002c0002 a0021c0028	a0002c0002t0002 a0021c0028t0002 a0002c0002t0002 a0021c0028t0002	a0002c0002t0002g0050 a0002c0002t0002g0092 a0021c0028t0002g0099 a0002c0002t0002g0050 a0002c0002t0002g0092 a0021c0028t0002g0099	3	276	0.0109	35	c.442 others(50): Show c.442-780_442-779insGTTATATATATGTTATATATATATAACATA TATAT	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRCC3_chrX_155066508_155128077	155075291	C C	CCCCTGAA others(28): Show CCCCTGAAACTCTTGTTTTGCCTTCTTTGTCTTCCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	254	0.0039	35	c.195 others(52): Show c.195+1865_195+1866insAAACTCTTGTTTTGCCTTCTTTGTCTTC CTCCCTG	BRCC3	ENSG00000185515.16	transcript	ENST00000330045.12	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
BRINP3_chr1_190092658_190482864	190482353	A A	ATATATAT others(28): Show ATATATATACACATATATATGTGTATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 NA18964.hp1 HG02976.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0094 a0001c0001t0001g0097	2	240	0.0083	35	c.-49 others(46): Show c.-4957_-4956insGTATATATATATACACATATATATGTGTATATAT A	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding		4490		chr1	TogoVar
BRIP1_chr17_61674139_61868528	61689026	C C	CTGTTATG others(28): Show CTGTTATGTTATGTTATGTTATGTTATGTTATGTTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02071.hp1 HG03130.hp2 others(2): Show HG00735.hp2 HG02071.hp1 HG03130.hp2 HG03540.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0012 a0001c0001t0001g0130 a0001c0001t0002g0057 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0130 a0001c0001t0002g0057 a0001c0001t0006g0153 a0001c0001t0008g0241	5	266	0.0188	35	c.257 others(54): Show c.2576-2862_2576-2861insTAACATAACATAACATAACATAACAT AACATAACA	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	18/19			chr17	TogoVar
BRSK2_chr11_1384934_1467689	1446051	G G	GGCTTGGC others(28): Show GGCTTGGCTGGGCTGGGCTGGGCTTAGCTGGGCTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0049 a0002c0002t0049	a0002c0002t0049g0117 a0002c0002t0049g0117	1	360	0.0028	35	c.122 others(52): Show c.1226+147_1226+148insTGGCTGGGCTGGGCTGGGCTTAGCTGGG CTTTGCT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRWD1_chr21_39180482_39318632	39250583	G G	GTTAGGCA others(28): Show GTTAGGCACTAGGCAATTTTTCTCAAGTTTTCAAAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03471.hp2 HG02895.hp1 HG03471.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0029 a0004c0003t0040 a0004c0003t0029 a0004c0003t0040	a0004c0003t0029g0015 a0004c0003t0040g0074 a0004c0003t0029g0015 a0004c0003t0040g0074	2	338	0.0059	35	c.234 others(52): Show c.2349+178_2349+212dupGTTTGAAAACTTGAGAAAAATTGCCTAG TGCCTAA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	20/40			chr21	TogoVar
BRWD3_chrX_80664503_80814877	80700433	G G	GATATATA others(28): Show GATATATATATATATATATATATATATTATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	265	0.0038	35	c.283 others(52): Show c.2836-370_2836-369insATATATATAATATATATATATATATATA TATATAT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	24/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80725945	C C	CATGTCTA others(28): Show CATGTCTATATAACACATAACATGTTTACATGTTAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	265	0.0038	35	c.138 others(52): Show c.1387-913_1387-879dupATAACATGTAAACATGTTATGTGTTATA TAGACAT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	14/40			chrX	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0226 a0001c0001t0226	a0001c0001t0226g0004 a0001c0001t0226g0004	1	448	0.0022	35	c.-23 others(46): Show c.-2350_-2349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BSN_chr3_49549477_49676549	49587887	T T	TTTTTCTT others(28): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0001 a0002c0019t0001	a0002c0019t0001g0056 a0002c0019t0001g0056	1	186	0.0054	35	c.224 others(54): Show c.224+33071_224+33105dupCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSX_chr11_122972570_122986834	122978269	T T	TCTCATCG others(28): Show TCTCATCGGAGAGAAAATCAGACCCGGGCCTGGCAG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	422	0.0024	35	c.460 others(50): Show c.460-413_460-379dupCTGCCAGGCCCGGGTCTGATTTTCTCTCCG ATGAG	BSX	ENSG00000188909.5	transcript	ENST00000343035.3	protein_coding	2/2			chr11	TogoVar
BSX_chr11_122972570_122986834	122983523	G G	GAAAGAAA others(28): Show GAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02148.hp1 NA18979.hp2 HG00733.hp2 HG02148.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0071 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0071	3	422	0.0071	35	c.-18 others(46): Show c.-1853_-1852insTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT T	BSX	ENSG00000188909.5	transcript	ENST00000343035.3	protein_coding		1690		chr11	TogoVar
BTRC_chr10_101349165_101562313	101472275	C C	CTCTCTTC others(28): Show CTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01071.hp2 others(9): Show HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01255.hp2 HG01256.hp2 HG01952.hp2 HG02257.hp1 HG02293.hp1 HG03710.hp1 HG04199.hp2 NA19007.hp1 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0002c0003t0001	a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0113 others(9): Show a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0130 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0161 a0001c0001t0002g0077 a0001c0001t0017g0119 a0002c0003t0001g0092	12	266	0.0451	35	c.235 others(52): Show c.235-7077_235-7043dupTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BUB3_chr10_123149402_123175467	123156753	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0048 a0001c0001t0029g0048	1	418	0.0024	35	c.266 others(50): Show c.266-965_266-964insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	BUB3	ENSG00000154473.18	transcript	ENST00000368865.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
C10orf90_chr10_126419997_126675693	126490110	T T	TATATAAT others(28): Show TATATAATTATTTAATTATATGTATATTATATATAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18950.hp1 HG00621.hp1 NA18950.hp1	a0001 a0013 a0001 a0013	a0001c0008 a0013c0025 a0001c0008 a0013c0025	a0001c0008t0001 a0013c0025t0001 a0001c0008t0001 a0013c0025t0001	a0001c0008t0001g0062 a0013c0025t0001g0099 a0001c0008t0001g0062 a0013c0025t0001g0099	2	218	0.0092	35	c.153 others(56): Show c.1534+13812_1534+13846dupGTATATATAATATACATATAATTA AATAATTATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	4/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126532842	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	218	0.0046	35	c.314 others(54): Show c.314-18904_314-18903insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C11orf65_chr11_108377755_108472529	108408676	A A	AATAACAT others(28): Show AATAACATAACATAACATAACATAACATAACATAAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	330	0.0030	35	c.175 others(52): Show c.175-1528_175-1527insGTTATGTTATGTTATGTTATGTTATGTT ATGTTAT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTTCTT others(28): Show CTTTTCTTTCCTTTCCTTTCCTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0000 a0001c0001t0010g0000	1	422	0.0024	35	c.57 others(46): Show c.5731_*5732insAGAAAAGAAAAGAAAGGAAAGGAAAGGAAAGAAA A	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTTCTT others(28): Show CTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	422	0.0024	35	c.57 others(46): Show c.5731_*5732insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAA A	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTTCTT others(28): Show CTTTTCTTTTCTTTCCTTTCCTTTCCTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0000 a0001c0001t0010g0000	1	422	0.0024	35	c.57 others(46): Show c.5731_*5732insAGAAAAGAAAGGAAAGGAAAGGAAAGAAAAGAAA A	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTTCTT others(28): Show CTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01943.hp1 HG02135.hp1 others(1): Show HG01256.hp1 HG01943.hp1 HG02135.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0002g0000 a0001c0001t0003g0000	4	422	0.0095	35	c.57 others(46): Show c.5731_*5732insAGAAAAGAAAAGAAAAGAAAAGAAAGAAAAGAAA A	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTTCTT others(28): Show CTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 NA19003.hp2 HG02132.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	422	0.0047	35	c.57 others(46): Show c.5731_*5732insAGAAAAGAAAAGAAAAGAAAGAAAAGAAAAGAAA A	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTTCTT others(28): Show CTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19068.hp2 NA19085.hp1 NA19004.hp1 NA19068.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	3	422	0.0071	35	c.57 others(46): Show c.5731_*5732insAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAA A	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTTCTT others(28): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	422	0.0024	35	c.57 others(46): Show c.5731_*5732insAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAA A	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394284	T T	TTTCTTTT others(28): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0000 a0001c0003t0004g0000	1	422	0.0024	35	c.56 others(46): Show c.5675_*5676insGAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGA A	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4247		chr11	TogoVar
C12orf56_chr12_64259762_64395758	64287255	A A	AAGAAGAA others(28): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0231 a0001c0001t0004g0231	1	312	0.0032	35	c.111 others(54): Show c.1114-1196_1114-1195insCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	6/12			chr12	TogoVar
C14orf28_chr14_44892275_44912257	44905681	G G	GTTTAACC others(28): Show GTTTAACCCCAGGTAAATGTTTTATATAGAGGATCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0005 a0001c0001t0019g0005	1	338	0.0030	35	c.13 others(44): Show c.132_*166dupTTTAACCCCAGGTAAATGTTTTATATAGAGGATCT	C14orf28	ENSG00000179476.8	transcript	ENST00000325192.8	protein_coding	5/5	167	INFO_REALIGN_3_PRIME	chr14	TogoVar
C16orf46_chr16_81055980_81082238	81080667	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	406	0.0025	35	c.-36 others(46): Show c.-3660_-3659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	C16orf46	ENSG00000166455.14	transcript	ENST00000299578.10	protein_coding		3430		chr16	TogoVar
C17orf78_chr17_37370985_37397708	37390215	T T	TTATTATA others(28): Show TTATTATATATAACTATATATAATATATTATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	441	0.0023	35	c.750 others(50): Show c.750+865_750+866insCTATATATAATATATTATATATATATTATA TATAA	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390304	T T	TTTTATAT others(28): Show TTTTATATATATATATATTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01346.hp2 HG03239.hp1 others(1): Show HG01069.hp2 HG01346.hp2 HG03239.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0004g0059 others(1): Show a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0004g0059 a0002c0002t0001g0129	4	441	0.0091	35	c.750 others(50): Show c.750+943_750+944insTTATATATATATATATTATATATATATATA TATAT	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C19orf25_chr19_1468201_1484215	1479763	T T	TTGTTATT others(28): Show TTGTTATTTTCGTTTTGTTTTGTTGTTTGTTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01358.hp2 HG01243.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0020 a0001c0001t0009g0020	2	402	0.0050	35	c.-60 others(44): Show c.-604_-603insCAACAAACAAACAACAAAACAAAACGAAAATAACA	C19orf25	ENSG00000119559.17	transcript	ENST00000585675.6	protein_coding		549		chr19	TogoVar
C1QTNF9_chr13_24304580_24327531	24309306	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0066 a0004c0004t0002g0066	1	466	0.0022	35	c.-33 others(44): Show c.-333_-332insATATATATATATATATATATATATATATATATATA	C1QTNF9	ENSG00000240654.6	transcript	ENST00000332018.5	protein_coding		273		chr13	TogoVar
C1S_chr12_7055718_7076032	7075534	C C	CGGGGGGG others(28): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGCTGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	35	c.48 others(46): Show c.4883_*4884insGGGGGGGGGGGGGGGGGGGGGGGGGGCTGGGGGG G	C1S	ENSG00000182326.17	transcript	ENST00000360817.10	protein_coding		4503		chr12	TogoVar

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Search Results (Total: 4618 hits)