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
CNBP_chr3_129162827_129188896	129172608	ACAGGCAG others(9): Show ACAGGCAGACAGGCAGC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00597.hp2 others(67): Show HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03834.hp2 HG04184.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18972.hp2 NA18978.hp2 NA18984.hp2 NA18986.hp2 NA18992.hp2 NA19007.hp2 NA19076.hp2 NA19082.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0036 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0037 others(59): Show a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0375 a0001c0001t0002g0139 a0001c0001t0003g0014 a0001c0001t0003g0293 a0001c0001t0004g0065 a0001c0001t0004g0129 a0001c0001t0004g0144 a0001c0001t0004g0246 a0001c0001t0006g0168 a0001c0001t0010g0081 a0001c0001t0010g0083 a0001c0001t0036g0252 a0001c0002t0001g0002 a0001c0002t0001g0021 a0001c0002t0001g0191 a0001c0002t0001g0200 a0001c0002t0001g0206 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0003g0201 a0001c0002t0003g0203 a0001c0002t0003g0205 a0001c0002t0003g0208 a0001c0002t0003g0209 a0001c0002t0004g0199 a0001c0002t0004g0204 a0001c0002t0004g0207	70	430	0.1628	-16	c.-14 others(31): Show c.-14-853_-14-838delGCTGCCTGTCTGCCTG	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNBP_chr3_129162827_129188896	129172683	GACAGACA others(9): Show GACAGACAGACAGACAC	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18949.hp2 NA18973.hp2 HG03654.hp1 NA18949.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0312 a0001c0001t0001g0024 a0001c0001t0001g0312	3	430	0.0070	-16	c.-14 others(31): Show c.-14-928_-14-913delGTGTCTGTCTGTCTGT	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNDP1_chr18_74529500_74592212	74573116	TCATCCAT others(9): Show TCATCCATCCAACTATC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp2 HG02145.hp1 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0012 a0001c0002t0005 a0001c0002t0012	a0001c0002t0005g0019 a0001c0002t0012g0097 a0001c0002t0005g0019 a0001c0002t0012g0097	2	390	0.0051	-16	c.841 others(33): Show c.841+1857_841+1872delACTATCCATCCATCCA	CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CNDP1_chr18_74529500_74592212	74581218	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01109.hp1 others(15): Show HG00099.hp1 HG00738.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01361.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02622.hp2 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03225.hp1 HG03486.hp1 HG03831.hp1 HG04204.hp1 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0011	a0001c0001 a0001c0002 a0001c0008 others(6): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0002c0004 a0003c0005 a0007c0012 a0008c0011 a0011c0021	a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 others(9): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 a0001c0008t0002 a0002c0003t0004 a0002c0004t0002 a0002c0004t0005 a0003c0005t0002 a0003c0005t0005 a0007c0012t0002 a0008c0011t0007 a0011c0021t0004	a0001c0001t0002g0227 a0001c0001t0002g0312 a0001c0002t0002g0367 others(15): Show a0001c0001t0002g0227 a0001c0001t0002g0312 a0001c0002t0002g0367 a0001c0002t0004g0366 a0001c0008t0002g0187 a0002c0003t0004g0364 a0002c0004t0002g0373 a0002c0004t0005g0138 a0002c0004t0005g0139 a0003c0005t0002g0072 a0003c0005t0002g0073 a0003c0005t0002g0090 a0003c0005t0005g0011 a0003c0005t0005g0375 a0007c0012t0002g0045 a0008c0011t0007g0101 a0011c0021t0004g0065 a0011c0021t0004g0066	18	390	0.0462	-16	c.130 others(33): Show c.1309+977_1309+992delGTGTGTGTGTGTGTGT	CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CNGA1_chr4_47930977_48021681	47974068	CTAGATAG others(9): Show CTAGATAGATAGATAGA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00609.hp1 others(44): Show HG00408.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01074.hp1 HG01255.hp2 HG01515.hp1 HG02071.hp2 HG02080.hp1 HG02148.hp1 HG02559.hp2 HG02698.hp1 HG02735.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp2 HG03669.hp2 HG03831.hp2 NA18612.hp1 NA18939.hp1 NA18948.hp2 NA18949.hp1 NA18957.hp2 NA18962.hp1 NA18970.hp1 NA18971.hp1 NA18981.hp2 NA18986.hp1 NA18989.hp2 NA18992.hp2 NA18999.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19057.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19078.hp2 NA19079.hp1 NA19090.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 others(37): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0003g0019 a0001c0001t0003g0086 a0002c0002t0001g0276	47	366	0.1284	-16	c.-15 others(33): Show c.-15+7309_-15+7324delTCTATCTATCTATCTA	CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10			chr4	TogoVar
CNGA1_chr4_47930977_48021681	48012558	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	366	0.0027	-16	c.-22 others(35): Show c.-222-1681_-222-1666delAAAAAAAAAAAAAAAA	CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	1/10			chr4	TogoVar
CNGA3_chr2_98341456_98403601	98381100	AGTCTCCC others(9): Show AGTCTCCCCAGCAGGTG	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	338	0.0030	-16	c.395 others(31): Show c.395+751_395+766delCCCCAGCAGGTGGTCT	CNGA3	ENSG00000144191.12	transcript	ENST00000272602.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNGB1_chr16_57877340_57976128	57885576	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03453.hp2 NA18906.hp2 HG01175.hp1 HG03453.hp2 NA18906.hp2	a0024 a0040 a0045 a0024 a0040 a0045	a0024c0047 a0040c0063 a0045c0079 a0024c0047 a0040c0063 a0045c0079	a0024c0047t0034 a0040c0063t0020 a0045c0079t0006 a0024c0047t0034 a0040c0063t0020 a0045c0079t0006	a0024c0047t0034g0350 a0040c0063t0020g0009 a0045c0079t0006g0194 a0024c0047t0034g0350 a0040c0063t0020g0009 a0045c0079t0006g0194	3	360	0.0083	-16	c.346 others(35): Show c.3463-1135_3463-1120delAAGAAAGAAAGAAAGA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	32/32			chr16	TogoVar
CNGB1_chr16_57877340_57976128	57918038	CATGGATG others(9): Show CATGGATGGATGGATGG	C C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0198 a0001c0003t0003g0198	1	360	0.0028	-16	c.195 others(33): Show c.1958-578_1958-563delCCATCCATCCATCCAT	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	20/32			chr16	TogoVar
CNGB3_chr8_86569179_86748634	86720833	TATGTATA others(9): Show TATGTATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	288	0.0035	-16	c.338 others(33): Show c.338+5682_338+5697delGTGTGTGTGTATACAT	CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	3/17			chr8	TogoVar
CNGB3_chr8_86569179_86748634	86720835	TGTATACA others(9): Show TGTATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG02004.hp2 others(7): Show HG00423.hp2 HG00438.hp2 HG02004.hp2 HG02027.hp2 HG03017.hp1 NA18954.hp2 NA19058.hp2 NA19062.hp2 NA19068.hp2 NA19080.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0004c0003t0001	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0032 others(7): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0071 a0001c0001t0001g0090 a0001c0001t0001g0279 a0001c0001t0004g0017 a0001c0001t0008g0018 a0001c0001t0008g0031 a0004c0003t0001g0072	10	288	0.0347	-16	c.338 others(33): Show c.338+5680_338+5695delGTGTGTGTGTGTATAC	CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	3/17			chr8	TogoVar
CNKSR2_chrX_21369418_21659689	21409228	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp2 HG02717.hp1 others(9): Show HG01243.hp1 HG02280.hp2 HG02717.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03654.hp1 HG03710.hp1 HG03942.hp1 HG04228.hp1 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020 a0001c0001t0023	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0003g0015 others(9): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0003g0015 a0001c0001t0003g0044 a0001c0001t0009g0010 a0001c0001t0010g0152 a0001c0001t0010g0153 a0001c0001t0010g0162 a0001c0001t0011g0016 a0001c0001t0011g0138 a0001c0001t0020g0141 a0001c0001t0023g0006	12	163	0.0736	-16	c.65- others(33): Show c.65-17233_65-17218delATATATATATATATAT	CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding	1/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNKSR2_chrX_21369418_21659689	21495783	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0155 a0001c0001t0006g0155	1	163	0.0061	-16	c.682 others(33): Show c.682-1980_682-1965delAAAAAAAAAAAAAAAA	CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding	6/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNKSR3_chr6_154382515_154515685	154515277	GAGAGAGA others(9): Show GAGAGAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0295 a0001c0001t0102g0295	1	342	0.0029	-16	c.-51 others(27): Show c.-5179_-5164delTTCTTTCTTTCTCTCT	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding		4593		chr6	TogoVar
CNN1_chr19_11533851_11555323	11553582	TACACACA others(9): Show TACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG02258.hp2 HG02451.hp1 others(5): Show HG01257.hp1 HG02258.hp2 HG02451.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG03209.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0055 a0001c0001t0002g0063 a0001c0002t0001g0062 others(3): Show a0001c0001t0002g0055 a0001c0001t0002g0063 a0001c0002t0001g0062 a0001c0002t0002g0014 a0001c0002t0002g0023 a0001c0002t0002g0086	8	392	0.0204	-16	c.37 others(27): Show c.3788_*3803delACACACACACACACAC	CNN1	ENSG00000130176.8	transcript	ENST00000252456.7	protein_coding		3260		chr19	TogoVar
CNNM1_chr10_99324356_99399330	99356562	CAGAAAGA others(9): Show CAGAAAGAAAGAAAGAA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0273 a0001c0009t0010g0273	1	320	0.0031	-16	c.157 others(33): Show c.1574-920_1574-905delGAAAGAAAGAAAGAAA	CNNM1	ENSG00000119946.12	transcript	ENST00000356713.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102958459	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA20129.hp1 HG01884.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0010 a0001c0001t0005g0007 a0001c0001t0005g0010	2	270	0.0074	-16	c.162 others(37): Show c.1621+38373_1621+38388delTTTTTTTTTTTTTTTT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102962690	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	270	0.0037	-16	c.162 others(37): Show c.1621+42615_1621+42630delGTGTGTGTGTGTGTGT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	103000242	CAAATAAA others(9): Show CAAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp1 HG02257.hp1 HG02922.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0055 a0002c0004t0066 a0002c0004t0055 a0002c0004t0066	a0002c0004t0055g0216 a0002c0004t0066g0192 a0002c0004t0055g0216 a0002c0004t0066g0192	2	270	0.0074	-16	c.162 others(37): Show c.1622-49437_1622-49422delTAAATAAATAAATAAA	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM4_chr2_96755902_96816874	96765024	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02055.hp1 HG00642.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0009 a0001c0001t0012g0116 a0001c0001t0001g0009 a0001c0001t0012g0116	2	270	0.0074	-16	c.140 others(35): Show c.1402+2650_1402+2665delTTTTTTTTTTTTTTTT	CNNM4	ENSG00000158158.12	transcript	ENST00000377075.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNOT10_chr3_32680188_32778875	32695966	AGAGTGTG others(9): Show AGAGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01106.hp1 others(6): Show HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG02257.hp1 HG02615.hp1 HG03041.hp2 HG03225.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0340 a0001c0001t0001g0345 a0001c0001t0001g0347 others(6): Show a0001c0001t0001g0340 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0354 a0004c0004t0001g0346	9	354	0.0254	-16	c.23- others(31): Show c.23-7900_23-7885delAGTGTGTGTGTGTGTG	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT10_chr3_32680188_32778875	32695968	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01433.hp2 HG02809.hp2 others(4): Show HG00408.hp1 HG01433.hp2 HG02809.hp2 HG02965.hp1 NA18995.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0066 others(4): Show a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0005g0031	7	354	0.0198	-16	c.23- others(31): Show c.23-7867_23-7852delGTGTGTGTGTGTGTGT	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT10_chr3_32680188_32778875	32720891	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19030.hp2 NA19043.hp1 HG06807.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0339 a0001c0001t0002g0209 a0001c0001t0002g0322 a0001c0001t0001g0339 a0001c0001t0002g0209 a0001c0001t0002g0322	3	354	0.0085	-16	c.862 others(31): Show c.862+689_862+704delTTCCTTCCTTCCTTCC	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT11_chr2_101247886_101275316	101258395	CAATAAAT others(9): Show CAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp1 HG01516.hp1 HG00741.hp1 HG01255.hp1 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0107 a0001c0002t0001g0040 a0001c0002t0001g0107	3	378	0.0079	-16	c.679 others(31): Show c.679+468_679+483delAAATAAATAAATAAAT	CNOT11	ENSG00000158435.8	transcript	ENST00000289382.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNOT1_chr16_58514951_58634826	58522237	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp2 others(80): Show HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG01074.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01496.hp1 HG01516.hp1 HG01978.hp1 HG02027.hp2 HG02071.hp1 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02280.hp2 HG02683.hp2 HG02735.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03017.hp2 HG03225.hp1 HG03471.hp2 HG03490.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04204.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18969.hp1 NA18971.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19011.hp2 NA19012.hp1 NA19060.hp1 NA19065.hp1 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20752.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0002 a0001c0007 a0001c0014 others(4): Show a0001c0002 a0001c0007 a0001c0014 a0001c0017 a0002c0009 a0004c0016 a0008c0015	a0001c0002t0001 a0001c0002t0003 a0001c0007t0001 others(5): Show a0001c0002t0001 a0001c0002t0003 a0001c0007t0001 a0001c0014t0001 a0001c0017t0001 a0002c0009t0001 a0004c0016t0001 a0008c0015t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(80): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0003g0070 a0001c0002t0003g0083 a0001c0002t0003g0089 a0001c0002t0003g0090 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0096 a0001c0002t0003g0132 a0001c0002t0003g0180 a0001c0007t0001g0088 a0001c0007t0001g0103 a0001c0007t0001g0125 a0001c0007t0001g0131 a0001c0014t0001g0060 a0001c0017t0001g0073 a0002c0009t0001g0123 a0004c0016t0001g0139 a0008c0015t0001g0063	83	308	0.2695	-16	c.691 others(33): Show c.6918-936_6918-921delTTTTTTTTTTTTTTTT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	47/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58603408	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp2 HG02622.hp1 others(5): Show HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02818.hp2 HG02965.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0212	8	308	0.0260	-16	c.-17 others(35): Show c.-174-3913_-174-3898delACACACACACACACAC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	1/48			chr16	TogoVar
CNOT4_chr7_135356795_135515102	135424040	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00621.hp1 others(28): Show HG00597.hp1 HG00609.hp2 HG00621.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02486.hp1 HG02572.hp2 HG02683.hp1 HG02717.hp2 HG03225.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03927.hp2 NA18942.hp2 NA18953.hp2 NA18957.hp2 NA18962.hp1 NA18971.hp1 NA18978.hp2 NA18979.hp1 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19007.hp2 NA19011.hp1 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0011 a0001c0001 a0002c0002 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0011t0001	a0001c0001t0001g0231 a0001c0001t0001g0327 a0001c0001t0001g0328 others(28): Show a0001c0001t0001g0231 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0001g0034 a0002c0002t0001g0042 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0081 a0002c0011t0001g0044	31	362	0.0856	-16	c.175 others(33): Show c.175-1703_175-1688delGTGTGTGTGTGTGTGT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	2/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135464121	GCAGTATG others(9): Show GCAGTATGGCAATTCCT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	362	0.0028	-16	c.-92 others(35): Show c.-92-25714_-92-25699delAGGAATTGCCATACTG	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135472504	AAAAAAAA others(9): Show AAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02970.hp1 HG03579.hp2 HG02896.hp1 HG02970.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133	3	362	0.0083	-16	c.-92 others(35): Show c.-92-34097_-92-34082delATATATTTTTTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135472508	AAAAAAAA others(9): Show AAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01071.hp2 others(2): Show HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01243.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0148 a0001c0001t0001g0338 a0001c0001t0001g0339 others(2): Show a0001c0001t0001g0148 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0002g0180	5	362	0.0138	-16	c.-92 others(35): Show c.-92-34101_-92-34086delATATATATATTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135472512	AAAATATA others(9): Show AAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0351 a0001c0001t0003g0351	1	362	0.0028	-16	c.-92 others(35): Show c.-92-34105_-92-34090delATATATATATATATTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135495678	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	362	0.0028	-16	c.-93 others(35): Show c.-93+14195_-93+14210delCTTTTTTTTTTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135495686	AAAAAAAA others(9): Show AAAAAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01891.hp2 HG01346.hp1 HG01891.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0288 a0002c0002t0001g0051 a0001c0001t0002g0288 a0002c0002t0001g0051	2	362	0.0055	-16	c.-93 others(35): Show c.-93+14187_-93+14202delCTTTCTTTCTTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135495690	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02293.hp2 HG02602.hp1 others(1): Show HG00099.hp2 HG02293.hp2 HG02602.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0200 a0001c0001t0001g0201 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0226	4	362	0.0111	-16	c.-93 others(35): Show c.-93+14183_-93+14198delCTTTCTTTCTTTCTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT6L_chr4_77708387_77824368	77714438	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02970.hp2 HG03195.hp2 HG02280.hp1 HG02970.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025	a0001c0001t0023g0310 a0001c0001t0024g0319 a0001c0001t0025g0320 a0001c0001t0023g0310 a0001c0001t0024g0319 a0001c0001t0025g0320	3	328	0.0092	-16	c.59 others(27): Show c.5977_*5992delTTTTTTTTTTTTTTTT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	12/12	5977		chr4	TogoVar
CNOT6L_chr4_77708387_77824368	77727562	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0030 a0001c0001t0032g0030	1	328	0.0031	-16	c.125 others(35): Show c.1253-1209_1253-1194delTTTTTTTTTTTTTTTT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	10/11			chr4	TogoVar
CNOT6L_chr4_77708387_77824368	77737406	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0318 a0001c0001t0039g0318	1	328	0.0031	-16	c.872 others(33): Show c.872+4719_872+4734delAAAAAAAAAAAAAAAA	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	8/11			chr4	TogoVar
CNOT6L_chr4_77708387_77824368	77766605	ATTTGCAG others(9): Show ATTTGCAGACAAGTTTT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0012 a0001c0001t0029g0012	1	328	0.0031	-16	c.400 others(33): Show c.400+6460_400+6475delAAAACTTGTCTGCAAA	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	4/11			chr4	TogoVar
CNOT6L_chr4_77708387_77824368	77789945	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0222 a0001c0001t0008g0222	1	328	0.0031	-16	c.6-1 others(31): Show c.6-13569_6-13554delTTTTTTTTTTTTTTTT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNOT6_chr5_180489379_180583358	180510134	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03579.hp2 HG02717.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0251 a0001c0001t0013g0103 a0001c0001t0001g0251 a0001c0001t0013g0103	2	334	0.0060	-16	c.-3+ others(33): Show c.-3+15391_-3+15406delTTTTTTTTTTTTTTTT	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNOT6_chr5_180489379_180583358	180533312	CTATATAT others(9): Show CTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00738.hp2 others(49): Show HG00280.hp2 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01167.hp2 HG01169.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG01993.hp1 HG02027.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02148.hp2 HG02257.hp1 HG02486.hp2 HG02559.hp2 HG02683.hp2 HG03017.hp1 HG03195.hp2 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18977.hp1 NA18980.hp1 NA18984.hp1 NA18990.hp2 NA18995.hp1 NA19085.hp1 NA19090.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0023 a0001c0001t0027 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0043 a0001c0001t0044	a0001c0001t0001g0168 a0001c0001t0002g0176 a0001c0001t0003g0170 others(49): Show a0001c0001t0001g0168 a0001c0001t0002g0176 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0184 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0195 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0003g0211 a0001c0001t0003g0290 a0001c0001t0009g0010 a0001c0001t0009g0014 a0001c0001t0009g0015 a0001c0001t0009g0173 a0001c0001t0009g0177 a0001c0001t0009g0178 a0001c0001t0009g0183 a0001c0001t0009g0199 a0001c0001t0009g0206 a0001c0001t0009g0210 a0001c0001t0010g0016 a0001c0001t0010g0182 a0001c0001t0010g0187 a0001c0001t0010g0193 a0001c0001t0010g0194 a0001c0001t0010g0198 a0001c0001t0010g0208 a0001c0001t0010g0209 a0001c0001t0014g0167 a0001c0001t0014g0174 a0001c0001t0014g0175 a0001c0001t0014g0185 a0001c0001t0014g0202 a0001c0001t0023g0009 a0001c0001t0023g0196 a0001c0001t0023g0203 a0001c0001t0027g0186 a0001c0001t0027g0190 a0001c0001t0035g0017 a0001c0001t0036g0192 a0001c0001t0037g0171 a0001c0001t0043g0204 a0001c0001t0044g0169	52	334	0.1557	-16	c.112 others(33): Show c.112+3940_112+3955delATATATATATATATAT	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNOT6_chr5_180489379_180583358	180539551	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03195.hp1 HG02735.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0025 a0001c0001t0021 a0001c0001t0025	a0001c0001t0021g0159 a0001c0001t0025g0219 a0001c0001t0021g0159 a0001c0001t0025g0219	2	334	0.0060	-16	c.112 others(35): Show c.112+10204_112+10219delTTTTTTTTTTTTTTTT	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNOT9_chr2_218563839_218602080	218583225	GTGTGTGT others(9): Show GTGTGTGTGTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03225.hp2 HG02647.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0187 a0001c0001t0009g0183 a0001c0001t0003g0187 a0001c0001t0009g0183	2	322	0.0062	-16	c.320 others(31): Show c.320+141_320+156delGTGTGTGTCTCTCTCT	CNOT9	ENSG00000144580.15	transcript	ENST00000273064.11	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNOT9_chr2_218563839_218602080	218583227	GTGTGTGT others(9): Show GTGTGTGTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG00733.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0032 a0001c0001t0011g0032 a0001c0001t0001g0032 a0001c0001t0011g0032	2	322	0.0062	-16	c.320 others(31): Show c.320+143_320+158delGTGTGTCTCTCTCTCT	CNOT9	ENSG00000144580.15	transcript	ENST00000273064.11	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNOT9_chr2_218563839_218602080	218583229	GTGTGTCT others(9): Show GTGTGTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00642.hp1 others(9): Show HG00140.hp1 HG00323.hp1 HG00642.hp1 HG00741.hp1 HG01070.hp2 HG01099.hp1 HG01192.hp1 HG01993.hp1 HG03239.hp1 HG03491.hp1 HG03834.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0001 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0004 a0001c0001t0001g0034 a0001c0001t0001g0145 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0034 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0007g0004 a0001c0001t0011g0034	12	322	0.0373	-16	c.320 others(31): Show c.320+145_320+160delGTGTCTCTCTCTCTCT	CNOT9	ENSG00000144580.15	transcript	ENST00000273064.11	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNPY1_chr7_155496129_155551559	155504689	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG01123.hp1 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0202 a0001c0001t0001g0135 a0001c0001t0001g0202	2	426	0.0047	-16	c.401 others(33): Show c.401-1600_401-1585delGTGTGTGTGTGTGTGT	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	4/4			chr7	TogoVar
CNPY1_chr7_155496129_155551559	155550101	ACAGGAGG others(9): Show ACAGGAGGCTGCATCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02895.hp2 others(4): Show HG01167.hp2 HG01169.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG03540.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0001t0022 a0001c0001t0032 others(2): Show a0001c0001t0010 a0001c0001t0022 a0001c0001t0032 a0001c0003t0022 a0001c0003t0041	a0001c0001t0010g0072 a0001c0001t0010g0073 a0001c0001t0010g0279 others(4): Show a0001c0001t0010g0072 a0001c0001t0010g0073 a0001c0001t0010g0279 a0001c0001t0022g0076 a0001c0001t0032g0075 a0001c0003t0022g0074 a0001c0003t0041g0092	7	426	0.0164	-16	c.-37 others(27): Show c.-3703_-3688delGAGATGCAGCCTCCTG	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding		3543		chr7	TogoVar
CNPY4_chr7_100114634_100130508	100121114	ATATTTTT others(9): Show ATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00673.hp2 others(5): Show HG00423.hp2 HG00558.hp2 HG00673.hp2 HG02083.hp1 NA18957.hp2 NA18973.hp1 NA19007.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0171 a0001c0001t0001g0008 a0001c0001t0001g0171	8	416	0.0192	-16	c.119 others(33): Show c.119-1143_119-1128delATTTTTTTTTTTTTTT	CNPY4	ENSG00000166997.8	transcript	ENST00000262932.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNPY4_chr7_100114634_100130508	100121116	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	416	0.0024	-16	c.119 others(33): Show c.119-1124_119-1109delTTTTTTTTTTTTTTTT	CNPY4	ENSG00000166997.8	transcript	ENST00000262932.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNRIP1_chr2_68288010_68324949	68305272	ATATGTGT others(9): Show ATATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0319 a0001c0002t0001g0319	1	424	0.0024	-16	c.331 others(35): Show c.331-11262_331-11247delCACACACACACACATA	CNRIP1	ENSG00000119865.9	transcript	ENST00000263655.4	protein_coding	2/2			chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)