Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CD200_chr3_112328156_112367812	112342305	CCTTTCTT others(32): Show CCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	408	0.0025	-39	c.94+ others(54): Show c.94+1330_94+1368delCTTTCTTTCTTTCTTTCTTTCTTTCCTTCT TTCTTTCTT	CD200	ENSG00000091972.18	transcript	ENST00000315711.12	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
CD200_chr3_112328156_112367812	112342313	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp2 HG01109.hp1 others(23): Show HG00609.hp1 HG00741.hp2 HG01109.hp1 HG01255.hp1 HG01496.hp2 HG01952.hp1 HG01978.hp1 HG02056.hp1 HG02273.hp2 HG02523.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp2 NA18939.hp1 NA18941.hp1 NA18951.hp2 NA18985.hp2 NA19001.hp1 NA19003.hp2 NA19072.hp1 NA19076.hp2 NA19078.hp2 NA19082.hp1 NA19083.hp2 NA19091.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0009t0001 a0002c0003t0001	a0001c0001t0001g0012 a0001c0001t0001g0207 a0001c0001t0001g0230 others(17): Show a0001c0001t0001g0012 a0001c0001t0001g0207 a0001c0001t0001g0230 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0002g0012 a0001c0001t0002g0184 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0070 a0001c0002t0001g0080 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0009t0001g0019 a0002c0003t0001g0333	26	408	0.0637	-39	c.94+ others(54): Show c.94+1331_94+1369delTTTCTTTCTTTCTTTCTTTCTTTCCTTCTT TCTTTCTTT	CD200	ENSG00000091972.18	transcript	ENST00000315711.12	protein_coding	2/5			chr3	TogoVar
CD276_chr15_73679383_73719514	73718235	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19088.hp2 NA19007.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0220 a0001c0001t0002g0040 a0001c0001t0002g0220	2	384	0.0052	-39	c.52 others(50): Show c.5280_*5318delATATATATATATATATATATATATATATATATAT ATATA	CD276	ENSG00000103855.18	transcript	ENST00000318443.10	protein_coding		3722		chr15	TogoVar
CD276_chr15_73679383_73719514	73718250	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02818.hp1 HG02970.hp1 others(1): Show HG01496.hp1 HG02818.hp1 HG02970.hp1 HG03516.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0005 a0003c0003t0003 a0002c0002t0005 a0003c0003t0003	a0002c0002t0005g0091 a0002c0002t0005g0093 a0002c0002t0005g0101 others(1): Show a0002c0002t0005g0091 a0002c0002t0005g0093 a0002c0002t0005g0101 a0003c0003t0003g0198	4	384	0.0104	-39	c.52 others(50): Show c.5295_*5333delTATATATATATATATATATATATATATATATTTT TTTTT	CD276	ENSG00000103855.18	transcript	ENST00000318443.10	protein_coding		3737		chr15	TogoVar
CD276_chr15_73679383_73719514	73718252	ATATATAT others(32): Show ATATATATATATATATATATATATATATATTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0092 a0002c0002t0005g0092	1	384	0.0026	-39	c.52 others(50): Show c.5297_*5335delTATATATATATATATATATATATATATATTTTTT TTTTT	CD276	ENSG00000103855.18	transcript	ENST00000318443.10	protein_coding		3739		chr15	TogoVar
CD28_chr2_203701639_203743912	203705880	TTCTTTCT others(32): Show TTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTCTTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03130.hp2 HG03195.hp1 HG02970.hp1 HG03130.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0115 a0001c0001t0009g0026 a0001c0001t0002g0115 a0001c0001t0009g0026	3	390	0.0077	-39	c.-81 others(48): Show c.-816_-778delTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTCTTT CTC	CD28	ENSG00000178562.18	transcript	ENST00000324106.9	protein_coding		758		chr2	TogoVar
CD300LD_chr17_74574365_74597283	74591629	GTAGAAAC others(32): Show GTAGAAACAACCCTAAGGTTCATTGACAAATGACTGGAGA	G G	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0062 a0003c0003t0001g0062	1	440	0.0023	-39	c.40+ others(52): Show c.40+495_40+533delTCTCCAGTCATTTGTCAATGAACCTTAGGGTT GTTTCTA	CD300LD	ENSG00000204345.1	transcript	ENST00000375352.1	protein_coding	1/3			chr17	TogoVar
CD300LG_chr17_43842176_43868639	43861663	CCTCTGCA others(32): Show CCTCTGCAGATGGACGGAGGGCTGGAACTTGTGGAAAAGG	C C	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	300	0.0033	-39	c.886 others(53): Show c.886-132_886-94delCTGCAGATGGACGGAGGGCTGGAACTTGTGG AAAAGGCT	CD300LG	ENSG00000161649.14	transcript	ENST00000317310.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDC123_chr10_12191188_12255589	12226642	TCACATCC others(32): Show TCACATCCCAGACGATGGGCTGCGGGGCAGAGGCGCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01168.hp2 HG01884.hp2 others(6): Show HG00099.hp2 HG01168.hp2 HG01884.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG03471.hp1 HG03579.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0146 a0001c0001t0001g0147 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0344 a0001c0001t0002g0130	9	392	0.0230	-39	c.441 others(56): Show c.441-4299_441-4261delCCAGACGATGGGCTGCGGGGCAGAGGCG CTCCCCACATC	CDC123	ENSG00000151465.14	transcript	ENST00000281141.9	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDC14A_chr1_100347506_100525277	100523616	GATCTATT others(32): Show GATCTATTTTAAAGTCAAATCTGTTGGGGCAAATTATCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	306	0.0033	-39	c.53 others(50): Show c.5337_*5375delATCTATTTTAAAGTCAAATCTGTTGGGGCAAATT ATCCT	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding		3340		chr1	TogoVar
CDC34_chr19_526760_547087	536363	GTCCACCC others(32): Show GTCCACCCAGAACATCAGGTAGGCCGGGCTCCGTCCCGTA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02630.hp1 others(4): Show HG02280.hp2 HG02486.hp2 HG02630.hp1 HG03098.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	7	328	0.0213	-39	c.362 others(52): Show c.362+34_362+72delACATCAGGTAGGCCGGGCTCCGTCCCGTATCC ACCCAGA	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDC34_chr19_526760_547087	540041	GCCCCCCA others(32): Show GCCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGCCAGGC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0052 a0001c0007t0002g0052	1	328	0.0031	-39	c.498 others(56): Show c.498-1292_498-1254delCACGTTTAGAATCCGGAGGCCGGGGTGG CCAGGCCCCCC	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDC34_chr19_526760_547087	540350	CGGGTTTA others(32): Show CGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	328	0.0031	-39	c.498 others(54): Show c.498-986_498-948delGTTTAGAATCCGGAGGCCGGGGTGGCCAGG CCCCCCGGG	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDC42EP5_chr19_54460026_54478296	54471981	ACCCCCCA others(32): Show ACCCCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGC	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	421	0.0024	-39	c.-14 others(56): Show c.-141-335_-141-297delGCCTGGACTCCTGGGTCTGAGGGAGGAA GGGCTGGGGGG	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CDC42EP5_chr19_54460026_54478296	54473790	TGGGAGGG others(32): Show TGGGAGGGAGGTGGAGGCCCAGGTGGGAGGCTGGGTCAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02615.hp1 others(11): Show HG02055.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03209.hp2 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0063 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069	14	421	0.0333	-39	c.-90 others(48): Show c.-907_-869delGCTGACCCAGCCTCCCACCTGGGCCTCCACCTCCCT CCC	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding		495		chr19	TogoVar
CDC5L_chr6_44382706_44455425	44391037	GTTATATA others(32): Show GTTATATATTATATATTAAACATATTTAATATGTTATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00597.hp1 others(4): Show HG00438.hp1 HG00544.hp2 HG00597.hp1 NA18973.hp1 NA19010.hp1 NA19080.hp1 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0002t0015 a0001c0007t0002 a0001c0002t0002 a0001c0002t0015 a0001c0007t0002	a0001c0002t0002g0253 a0001c0002t0002g0302 a0001c0002t0002g0303 others(4): Show a0001c0002t0002g0253 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0335 a0001c0002t0015g0272 a0001c0002t0015g0304 a0001c0007t0002g0031	7	352	0.0199	-39	c.149 others(54): Show c.149+677_149+715delTATATTAAACATATTTAATATGTTATATAT TATATATTA	CDC5L	ENSG00000096401.8	transcript	ENST00000371477.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDC5L_chr6_44382706_44455425	44394713	CAGGTGTG others(32): Show CAGGTGTGGTGGCGCATGCCTGTAGATCCAGCTACTGGGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(144): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18978.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19063.hp1 NA19066.hp2 NA19068.hp1 NA19072.hp2 NA19075.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0001c0014 a0002c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0001c0004t0004 a0001c0007t0002 a0001c0014t0001 a0002c0015t0013	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(141): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0127 a0001c0001t0008g0005 a0001c0001t0008g0026 a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0073 a0001c0001t0008g0109 a0001c0001t0013g0085 a0001c0001t0014g0097 a0001c0001t0014g0135 a0001c0001t0016g0076 a0001c0001t0016g0113 a0001c0001t0018g0005 a0001c0001t0018g0011 a0001c0001t0020g0130 a0001c0001t0023g0341 a0001c0001t0024g0082 a0001c0001t0025g0065 a0001c0001t0030g0124 a0001c0001t0034g0134 a0001c0001t0035g0104 a0001c0004t0004g0021 a0001c0007t0002g0031 a0001c0014t0001g0133 a0002c0015t0013g0144	147	352	0.4176	-39	c.439 others(56): Show c.439+1144_439+1182delTGTGGTGGCGCATGCCTGTAGATCCAGC TACTGGGGAGG	CDC5L	ENSG00000096401.8	transcript	ENST00000371477.4	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDH12_chr5_21745673_22858344	22308868	AGGAGAGA others(32): Show AGGAGAGAGAGAGAGAAAGAGAGAGAGAGAGGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0036 a0001c0002t0027g0036	1	60	0.0167	-39	c.-33 others(60): Show c.-332-96264_-332-96226delCTCTCTCTCCTCTCTCTCTCTCTT TCTCTCTCTCTCTCC	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	3/14			chr5	TogoVar
CDH3_chr16_68640310_68705292	68683667	AAAAAAAA others(32): Show AAAAAAAAAAAAAAGAAAATCCAGCCTGGACAACATGGAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0294 a0001c0004t0006g0294	1	338	0.0030	-39	c.118 others(56): Show c.1183-902_1183-864delGAAAATCCAGCCTGGACAACATGGAGAA AAAAAAAAAAA	CDH3	ENSG00000062038.15	transcript	ENST00000264012.9	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH4_chr20_61247261_61945617	61565176	TGGTGGTG others(32): Show TGGTGGTGGTGGTCCTCTTGGTGGTGGTCGCGGTGCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01884.hp2 HG02622.hp2 others(3): Show HG00423.hp2 HG01884.hp2 HG02622.hp2 HG03704.hp1 HG03704.hp2 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0021 a0002c0002 others(1): Show a0001c0001 a0001c0021 a0002c0002 a0002c0008	a0001c0001t0002 a0001c0001t0019 a0001c0021t0008 others(3): Show a0001c0001t0002 a0001c0001t0019 a0001c0021t0008 a0002c0002t0014 a0002c0002t0016 a0002c0008t0001	a0001c0001t0002g0007 a0001c0001t0019g0091 a0001c0021t0008g0047 others(3): Show a0001c0001t0002g0007 a0001c0001t0019g0091 a0001c0021t0008g0047 a0002c0002t0014g0062 a0002c0002t0016g0073 a0002c0008t0001g0028	6	106	0.0566	-39	c.170 others(60): Show c.170-178380_170-178342delGGTGGTCCTCTTGGTGGTGGTCGC GGTGCTCTCGGTGGT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61659557	CGAGGCTT others(32): Show CGAGGCTTGGAGGCAGGAGGAGGGTGGGCCTCAGCCATCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG02559.hp1 others(9): Show HG01884.hp2 HG02257.hp1 HG02559.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 NA19030.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0001c0010 a0001c0020 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0003t0052 a0001c0007t0010 a0001c0010t0009 a0001c0020t0006 a0002c0002t0004 a0002c0002t0041 a0002c0004t0013	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0002g0007 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0002g0007 a0001c0001t0011g0033 a0001c0003t0052g0064 a0001c0007t0010g0018 a0001c0010t0009g0045 a0001c0020t0006g0094 a0002c0002t0004g0068 a0002c0002t0004g0070 a0002c0002t0041g0087 a0002c0004t0013g0021	12	106	0.1132	-39	c.170 others(58): Show c.170-83942_170-83904delGGGCCTCAGCCATCTGAGGCTTGGAG GCAGGAGGAGGGT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61659621	GGGCCTCA others(32): Show GGGCCTCAGCCATCTGAGGCTTGGAGGCAGGAGGAGGGTA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01099.hp2 HG01106.hp1 others(13): Show HG00408.hp1 HG01099.hp2 HG01106.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02109.hp1 HG02622.hp1 HG02723.hp2 HG03516.hp2 HG03927.hp2 NA18952.hp2 NA18960.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0011 a0002c0002 others(7): Show a0001c0001 a0001c0011 a0002c0002 a0002c0004 a0002c0005 a0002c0009 a0002c0015 a0002c0024 a0002c0026 a0005c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0018 a0001c0001t0040 a0001c0011t0008 a0002c0002t0022 a0002c0004t0002 a0002c0005t0007 a0002c0009t0035 a0002c0015t0007 a0002c0024t0047 a0002c0026t0015 a0005c0025t0011	a0001c0001t0001g0030 a0001c0001t0002g0059 a0001c0001t0002g0060 others(13): Show a0001c0001t0001g0030 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0017g0065 a0001c0001t0018g0031 a0001c0001t0018g0039 a0001c0001t0040g0055 a0001c0011t0008g0003 a0002c0002t0022g0105 a0002c0004t0002g0080 a0002c0005t0007g0100 a0002c0009t0035g0026 a0002c0015t0007g0025 a0002c0024t0047g0051 a0002c0026t0015g0079 a0005c0025t0011g0099	16	106	0.1509	-39	c.170 others(58): Show c.170-83903_170-83865delAGGCCTCAGCCATCTGAGGCTTGGAG GCAGGAGGAGGGT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDK17_chr12_96273261_96405439	96399658	CCTCCCCC others(32): Show CCTCCCCCGCAGACCAAAGCGGCAGCGAGCACCGGAGGCG	C C	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0003 a0001c0001t0014g0003	1	346	0.0029	-39	c.-30 others(54): Show c.-30+289_-30+327delCGCCTCCGGTGCTCGCTGCCGCTTTGGTCT GCGGGGGAG	CDK17	ENSG00000059758.8	transcript	ENST00000261211.8	protein_coding	1/16			chr12	TogoVar
CDKL4_chr2_39170646_39248970	39197336	TAACGATG others(32): Show TAACGATGAAACCTAAGAATAATTGGTGTTCCCAAGGAAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03139.hp2 HG02886.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0022 a0001c0001t0001g0027	2	290	0.0069	-39	c.455 others(56): Show c.455-6873_455-6835delTTTCCTTGGGAACACCAATTATTCTTAG GTTTCATCGTT	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	5/9			chr2	TogoVar
CDYL_chr6_4771404_4960544	4809559	ATTTTGTA others(32): Show ATTTTGTATAGTAGGGGTATTATATTAGTCCTTGGTGATC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0152 a0001c0002t0006g0152	1	250	0.0040	-39	c.24+ others(56): Show c.24+32753_24+32791delTTTTGTATAGTAGGGGTATTATATTAGT CCTTGGTGATC	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	1/6			chr6	TogoVar
CDYL_chr6_4771404_4960544	4809677	TTTTGTAT others(32): Show TTTTGTATGGTAGGGGTATTATATTAGTCCTTGGCGATAC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	250	0.0040	-39	c.24+ others(56): Show c.24+33104_24+33142delCTTTGTATGGTAGGGGTATTATATTAGT CCTTGGCGATA	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM19_chr19_44666482_44689355	44668375	TTATATAT others(32): Show TTATATATATAATATATTTATATAATATGTTTATATATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp2 NA18943.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0014 a0001c0001t0003g0016 a0001c0001t0002g0014 a0001c0001t0003g0016	2	390	0.0051	-39	c.-35 others(50): Show c.-3556_-3518delTATATATATAATATATTTATATAATATGTTTATA TATTA	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		3106		chr19	TogoVar
CEACAM19_chr19_44666482_44689355	44668402	TGTTTATA others(32): Show TGTTTATATATTATATATATAATATATTTATATATTATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG03486.hp2 HG01981.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0001 a0001c0001t0002g0008	2	390	0.0051	-39	c.-35 others(50): Show c.-3529_-3491delGTTTATATATTATATATATAATATATTTATATAT TATTA	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		3079		chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44532526	GAAAGAAA others(32): Show GAAAGAAAGGAAAGAAAGGAAAGAAAGGAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01361.hp2 NA18941.hp2 others(5): Show HG00741.hp1 HG01361.hp2 NA18941.hp2 NA18945.hp1 NA19000.hp1 NA19009.hp1 NA19011.hp1 NA19088.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0004 a0004c0003 a0005c0005 a0003c0004 a0004c0003 a0005c0005	a0003c0004t0001 a0004c0003t0001 a0005c0005t0001 a0003c0004t0001 a0004c0003t0001 a0005c0005t0001	a0003c0004t0001g0296 a0003c0004t0001g0310 a0003c0004t0001g0327 others(5): Show a0003c0004t0001g0296 a0003c0004t0001g0310 a0003c0004t0001g0327 a0003c0004t0001g0350 a0004c0003t0001g0025 a0004c0003t0001g0290 a0004c0003t0001g0293 a0005c0005t0001g0220	8	438	0.0183	-39	c.-30 others(50): Show c.-3056_-3018delTCTTTCTTTCTTCCTTTCTTTCCTTTCTTTCCTT TCTTT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding		2852		chr19	TogoVar
CELF1_chr11_47460937_47558132	47541723	AAAGAACG others(32): Show AAAGAACGAAAGAAAGAACGAAAGAAAGAAAGAACGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	340	0.0029	-39	c.-15 others(60): Show c.-154+11230_-154+11268delCTTTCGTTCTTTCTTTCTTTCGTT CTTTCTTTCGTTCTT	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CENPF_chr1_214598195_214669571	214616900	TCTTTCTT others(32): Show TCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCCACCCTC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0226 a0004c0004t0002g0226	1	282	0.0036	-39	c.360 others(56): Show c.360-1671_360-1633delTTTCTTTCTTTCTTTCTTTCTTCTTTCT TTCCACCCTCC	CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CENPK_chr5_65512766_65568168	65565180	TTTCTCTC others(32): Show TTTCTCTCCACTGCTAAGACTGTAAACAAGTAAGAACCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0242 a0001c0001t0004g0242	1	374	0.0027	-39	c.-22 others(50): Show c.-2263_-2225delCTGGTTCTTACTTGTTTACAGTCTTAGCAGTGGA GAGAA	CENPK	ENSG00000123219.13	transcript	ENST00000396679.6	protein_coding		2013		chr5	TogoVar
CENPM_chr22_41933737_41952152	41935204	CTTCTCTT others(32): Show CTTCTCTTGTTAAATGGTACCAGGTGGCAAGGAAAATGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	258	0.0039	-39	c.38 others(50): Show c.3813_*3851delCACATTTTCCTTGCCACCTGGTACCATTTAACAA GAGAA	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding		3532		chr22	TogoVar
CENPS_chr1_10425433_10447808	10445270	TGCATGCC others(32): Show TGCATGCCTGTAGACCCAGTTAGCTACTCAGGAGGCTGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01884.hp1 others(21): Show HG01109.hp2 HG01243.hp1 HG01884.hp1 HG02055.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03209.hp2 HG03579.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0028 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066	24	410	0.0585	-39	c.28 others(50): Show c.2866_*2904delGCATGCCTGTAGACCCAGTTAGCTACTCAGGAGG CTGAG	CENPS	ENSG00000175279.22	transcript	ENST00000309048.8	protein_coding		2463		chr1	TogoVar
CEP72_chr5_607340_658553	629462	CCCAGTCC others(32): Show CCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	91	0.0110	-39	c.513 others(56): Show c.513-4229_513-4191delACCAGTCCTGGTGGGGTTCTGTCCAGTG CCGGGATTTGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	629697	CCAGTCCT others(32): Show CCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0019 a0003c0005t0002g0019	1	91	0.0110	-39	c.513 others(56): Show c.513-4035_513-3997delACTCAGTCCTGGTGGGGTTCTGTCCAGT GCCGGGATTTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	630086	ACCAGTCC others(32): Show ACCAGTCCTGGTGGGGTTCTGTCCAGTGCTGGGATTTGAC	A A	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	91	0.0110	-39	c.513 others(56): Show c.513-3654_513-3616delTGGGATTTGACCCAGTCCTGGTGGGGTT CTGTCCAGTGC	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	631412	CCCAGTCC others(32): Show CCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01192.hp1 others(15): Show HG01069.hp1 HG01070.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01517.hp1 HG02015.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp1 HG03688.hp2 HG03834.hp1 NA18948.hp1 NA18950.hp1 NA18999.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0006t0001g0012 a0001c0006t0001g0024	18	91	0.1978	-39	c.513 others(56): Show c.513-2253_513-2215delCGCCGGGATTTGGACCAGTCCTGGTGGG GTTCTGTCCAG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	632151	CCCAGTCC others(32): Show CCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGA	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA20129.hp1 HG01258.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0020 a0003c0003t0002g0022 a0003c0003t0002g0020 a0003c0003t0002g0022	2	91	0.0220	-39	c.513 others(56): Show c.513-1592_513-1554delCGCCGGGATTTGGACCAGTCCTGGTGGG GTTCTGTCCAG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	632678	GTCCAGTG others(32): Show GTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA20129.hp1 HG02015.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0053 a0003c0003t0002g0020 a0001c0001t0001g0053 a0003c0003t0002g0020	2	91	0.0220	-39	c.513 others(56): Show c.513-1073_513-1035delACCCAGTCCTGGTGGGGTTCTATCCAGT GCCGGGATTTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CERS4_chr19_8204370_8267421	8249131	AGTGGGTG others(32): Show AGTGGGTGGACAGATGTTTGGATGGGTGGATGGATGATGG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0008 a0008c0024t0008	a0008c0024t0008g0108 a0008c0024t0008g0108	1	418	0.0024	-39	c.-1- others(54): Show c.-1-1911_-1-1873delTGATGGGTGGGTGGACAGATGTTTGGATGG GTGGATGGA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CFAP298_chr21_32594354_32617377	32615025	TGGCTAAC others(32): Show TGGCTAACATGGTGAAACCCCGTCTCTACTAAAAACACAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	-39	c.-28 others(50): Show c.-2821_-2783delTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGT TAGCC	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding		2649		chr21	TogoVar
CFAP46_chr10_132803392_132947570	132823745	GCTGATGT others(32): Show GCTGATGTGTGCTGTGTGTGTGCTGTGTGCTGTGTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(87): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp2 HG01069.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02809.hp2 HG03017.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18950.hp2 NA18953.hp2 NA18960.hp1 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA18983.hp2 NA19007.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19067.hp1 NA19090.hp2 NA20805.hp1	a0002 a0003 a0004 others(16): Show a0002 a0003 a0004 a0005 a0007 a0010 a0012 a0016 a0025 a0030 a0033 a0036 a0041 a0042 a0044 a0047 a0052 a0061 a0070	a0002c0002 a0002c0003 a0002c0023 others(27): Show a0002c0002 a0002c0003 a0002c0023 a0002c0045 a0002c0054 a0003c0007 a0003c0012 a0003c0028 a0003c0080 a0004c0005 a0004c0019 a0004c0038 a0004c0052 a0005c0013 a0007c0008 a0010c0011 a0010c0072 a0012c0025 a0016c0031 a0025c0033 a0030c0066 a0033c0048 a0036c0051 a0041c0049 a0042c0053 a0044c0055 a0047c0035 a0052c0067 a0061c0092 a0070c0074	a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 others(29): Show a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 a0002c0045t0001 a0002c0054t0001 a0003c0007t0002 a0003c0012t0002 a0003c0028t0002 a0003c0080t0002 a0004c0005t0001 a0004c0005t0002 a0004c0019t0001 a0004c0038t0001 a0004c0052t0001 a0005c0013t0001 a0007c0008t0002 a0010c0011t0001 a0010c0072t0002 a0012c0025t0002 a0016c0031t0002 a0025c0033t0001 a0025c0033t0003 a0030c0066t0001 a0033c0048t0001 a0036c0051t0001 a0041c0049t0001 a0042c0053t0001 a0044c0055t0001 a0047c0035t0001 a0052c0067t0002 a0061c0092t0001 a0070c0074t0002	a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 others(85): Show a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0002t0001g0229 a0002c0003t0001g0128 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0145 a0002c0003t0001g0162 a0002c0003t0001g0181 a0002c0003t0001g0192 a0002c0003t0001g0196 a0002c0023t0001g0151 a0002c0023t0001g0204 a0002c0045t0001g0200 a0002c0054t0001g0164 a0003c0007t0002g0056 a0003c0007t0002g0057 a0003c0007t0002g0058 a0003c0007t0002g0059 a0003c0007t0002g0060 a0003c0007t0002g0062 a0003c0012t0002g0001 a0003c0012t0002g0055 a0003c0012t0002g0087 a0003c0028t0002g0002 a0003c0080t0002g0074 a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0223 a0004c0005t0001g0225 a0004c0005t0001g0226 a0004c0005t0001g0227 a0004c0005t0002g0016 a0004c0019t0001g0179 a0004c0019t0001g0233 a0004c0038t0001g0146 a0004c0052t0001g0188 a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0013t0001g0219 a0007c0008t0002g0075 a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242 a0010c0072t0002g0004 a0012c0025t0002g0007 a0012c0025t0002g0014 a0016c0031t0002g0072 a0025c0033t0001g0238 a0025c0033t0003g0237 a0030c0066t0001g0231 a0033c0048t0001g0224 a0036c0051t0001g0180 a0041c0049t0001g0176 a0042c0053t0001g0191 a0044c0055t0001g0183 a0047c0035t0001g0161 a0052c0067t0002g0013 a0061c0092t0001g0125 a0070c0074t0002g0006	90	246	0.3659	-39	c.711 others(58): Show c.7118-8870_7118-8832delTGCACACACAGCACACAGCACACACA CAGCACACATCAG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132887578	CCCTCTTC others(32): Show CCCTCTTCTCTCCTCTCCCTTCTTCTCTCCTCTCCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0179 a0004c0019t0001g0179	1	246	0.0041	-39	c.330 others(58): Show c.3305-1658_3305-1620delAGAGAGGAGAGGAGAGAAGAAGGGAG AGGAGAGAAGAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20106013	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01169.hp2 HG01243.hp1 others(29): Show HG01099.hp1 HG01169.hp2 HG01243.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02109.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp2	a0001 a0005 a0007 others(10): Show a0001 a0005 a0007 a0008 a0011 a0012 a0013 a0017 a0018 a0019 a0024 a0025 a0026	a0001c0001 a0001c0003 a0001c0023 others(15): Show a0001c0001 a0001c0003 a0001c0023 a0005c0013 a0005c0025 a0005c0043 a0007c0010 a0008c0017 a0008c0020 a0011c0018 a0012c0019 a0013c0021 a0017c0037 a0018c0036 a0019c0038 a0024c0029 a0025c0028 a0026c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0023t0003 a0005c0013t0002 a0005c0013t0003 a0005c0025t0005 a0005c0043t0003 a0007c0010t0003 a0008c0017t0002 a0008c0020t0002 a0011c0018t0003 a0012c0019t0003 a0013c0021t0003 a0017c0037t0005 a0018c0036t0003 a0019c0038t0001 a0024c0029t0003 a0025c0028t0001 a0026c0030t0002	a0001c0001t0001g0078 a0001c0001t0002g0061 a0001c0001t0003g0090 others(29): Show a0001c0001t0001g0078 a0001c0001t0002g0061 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0119 a0001c0001t0003g0139 a0001c0001t0005g0171 a0001c0003t0003g0142 a0001c0003t0004g0004 a0001c0003t0004g0005 a0001c0003t0007g0016 a0001c0023t0003g0054 a0005c0013t0002g0047 a0005c0013t0003g0048 a0005c0025t0005g0140 a0005c0043t0003g0156 a0007c0010t0003g0130 a0007c0010t0003g0131 a0007c0010t0003g0133 a0008c0017t0002g0121 a0008c0020t0002g0123 a0011c0018t0003g0122 a0012c0019t0003g0120 a0013c0021t0003g0046 a0017c0037t0005g0138 a0018c0036t0003g0094 a0019c0038t0001g0113 a0024c0029t0003g0132 a0025c0028t0001g0100 a0026c0030t0002g0056	32	236	0.1356	-39	c.859 others(56): Show c.859+7202_859+7240delATATATATATATATATATATATATATAT ATATATAAAAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP77_chr9_132405211_132578319	132486035	TATATATG others(32): Show TATATATGTATGTATATGTATGTGTGTGTGTGTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0313 a0002c0017t0001g0313	1	322	0.0031	-39	c.196 others(58): Show c.196-12659_196-12621delATATATGTATGTATATGTATGTGTGT GTGTGTATATATA	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5			chr9	TogoVar
CFAP77_chr9_132405211_132578319	132486037	TATATGTA others(32): Show TATATGTATGTATATGTATGTGTGTGTGTGTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03453.hp1 NA18944.hp2 others(1): Show HG01081.hp1 HG03453.hp1 NA18944.hp2 NA18994.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001	a0001c0002t0001g0227 a0001c0002t0002g0004 a0002c0003t0001g0015 others(1): Show a0001c0002t0001g0227 a0001c0002t0002g0004 a0002c0003t0001g0015 a0002c0003t0001g0069	4	322	0.0124	-39	c.196 others(58): Show c.196-12657_196-12619delATATGTATGTATATGTATGTGTGTGT GTGTATATATATA	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5			chr9	TogoVar
CFAP77_chr9_132405211_132578319	132486039	TATGTATG others(32): Show TATGTATGTATATGTATGTGTGTGTGTGTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01515.hp2 others(6): Show HG00639.hp1 HG00639.hp2 HG01515.hp2 HG01517.hp1 HG02559.hp2 HG02602.hp2 HG03688.hp2 NA18969.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0007 a0001c0001 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0002c0007t0001	a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0081 others(6): Show a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0256 a0001c0001t0001g0278 a0001c0001t0002g0030 a0002c0003t0001g0231 a0002c0007t0001g0160	9	322	0.0280	-39	c.196 others(58): Show c.196-12655_196-12617delATGTATGTATATGTATGTGTGTGTGT GTATATATATATA	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5			chr9	TogoVar
CFAP77_chr9_132405211_132578319	132486041	TGTATGTA others(32): Show TGTATGTATATGTATGTGTGTGTGTGTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02071.hp2 HG02155.hp2 others(2): Show HG01515.hp1 HG02071.hp2 HG02155.hp2 HG02300.hp2 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0004t0002 a0002c0003t0001 a0001c0001t0002 a0001c0004t0002 a0002c0003t0001	a0001c0001t0002g0007 a0001c0004t0002g0188 a0002c0003t0001g0072 others(2): Show a0001c0001t0002g0007 a0001c0004t0002g0188 a0002c0003t0001g0072 a0002c0003t0001g0100 a0002c0003t0001g0242	5	322	0.0155	-39	c.196 others(58): Show c.196-12653_196-12615delGTATGTATATGTATGTGTGTGTGTGT ATATATATATATA	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5			chr9	TogoVar
CFAP77_chr9_132405211_132578319	132486043	TATGTATA others(32): Show TATGTATATGTATGTGTGTGTGTGTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp1 HG01891.hp2 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0002 a0002c0003t0002 a0001c0005t0002 a0002c0003t0002	a0001c0005t0002g0157 a0002c0003t0002g0232 a0001c0005t0002g0157 a0002c0003t0002g0232	2	322	0.0062	-39	c.196 others(58): Show c.196-12651_196-12613delATGTATATGTATGTGTGTGTGTGTAT ATATATATATATA	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5			chr9	TogoVar

Search by Variant

Search

Search Results (Total: 1684 hits)