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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CMSS1_chr3_99812862_100186732	99957693	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0084 a0001c0001t0005g0084	1	232	0.0043	-15	c.64+ others(34): Show c.64+139664_64+139678delTTTTTTTTTTTTTTT		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99958203	CATTATTA others(8): Show CATTATTATTATTATT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG03139.hp2 others(2): Show HG02109.hp1 HG02630.hp1 HG03139.hp2 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0005 others(2): Show a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0007	5	232	0.0216	-15	c.64+ others(34): Show c.64+140194_64+140208delATTATTATTATTATT		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM7_chr3_32386853_32460528	32416361	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01261.hp2 HG02109.hp1 HG01169.hp1 HG01261.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0267 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0267	3	368	0.0082	-15	c.159 others(34): Show c.159+24318_159+24332delTTTTTTTTTTTTTTT		CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32316017	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	344	0.0029	-15	c.148 others(34): Show c.148-41343_148-41329delTTTTTTTTTTTTTTT		CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMYA5_chr5_79684836_79805222	79742048	CTCTTCTT others(8): Show CTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp2 HG03516.hp2 others(1): Show HG02055.hp1 HG03471.hp2 HG03516.hp2 NA18984.hp1	a0031 a0054 a0068 a0031 a0054 a0068	a0031c0046 a0054c0108 a0068c0061 a0031c0046 a0054c0108 a0068c0061	a0031c0046t0001 a0031c0046t0002 a0054c0108t0001 others(1): Show a0031c0046t0001 a0031c0046t0002 a0054c0108t0001 a0068c0061t0001	a0031c0046t0001g0186 a0031c0046t0002g0182 a0054c0108t0001g0187 others(1): Show a0031c0046t0001g0186 a0031c0046t0002g0182 a0054c0108t0001g0187 a0068c0061t0001g0005	4	358	0.0112	-15	c.106 others(36): Show c.10639-1741_10639-1727delCTTCTTCTTCTTCTT		CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
CNBD1_chr8_86861415_87387859	86894035	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03486.hp1 HG02818.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0013 a0001c0001t0001g0015	2	152	0.0132	-15	c.158 others(32): Show c.158+6447_158+6461delTTTTTTTTTTTTTTT		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	86950924	ATGTGTTC others(8): Show ATGTGTTCATTTATTC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	152	0.0066	-15	c.431 others(34): Show c.431+11187_431+11201delGTGTTCATTTATTCT		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	86951581	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02723.hp1 HG02886.hp2 others(1): Show HG00642.hp1 HG02723.hp1 HG02886.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0118 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0118 a0001c0001t0001g0119	4	152	0.0263	-15	c.431 others(34): Show c.431+11851_431+11865delAAAAAAAAAAAAAAA		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87256001	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	152	0.0066	-15	c.771 others(34): Show c.771+18891_771+18905delATATATATATATATT		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87256003	ATATATAT others(8): Show ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0006 a0004c0003t0001g0006	1	152	0.0066	-15	c.771 others(34): Show c.771+18893_771+18907delATATATATATATTTT		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBP_chr3_129162827_129188896	129164210	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01255.hp2 HG02055.hp2 others(2): Show HG01123.hp1 HG01255.hp2 HG02055.hp2 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0015 a0001c0002t0009 a0001c0002t0015	a0001c0002t0009g0355 a0001c0002t0009g0359 a0001c0002t0009g0360 others(2): Show a0001c0002t0009g0355 a0001c0002t0009g0359 a0001c0002t0009g0360 a0001c0002t0015g0361 a0001c0002t0015g0363	5	430	0.0116	-15	c.62 others(26): Show c.6228_*6242delTTTTTTTTTTTTTTT		CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding					3616		chr3	TogoVar
CNDP1_chr18_74529500_74592212	74579181	CTCCCTTT others(8): Show CTCCCTTTCCTTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01071.hp2 HG01433.hp1 others(10): Show HG00140.hp1 HG01071.hp2 HG01433.hp1 HG02698.hp2 NA18979.hp2 NA19005.hp2 NA19063.hp2 NA19066.hp1 NA19074.hp1 NA19085.hp2 NA20129.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0022 a0001 a0002 a0022	a0001c0001 a0001c0043 a0002c0003 others(1): Show a0001c0001 a0001c0043 a0002c0003 a0022c0041	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0043t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0022c0041t0001	a0001c0001t0001g0353 a0001c0001t0005g0226 a0001c0001t0005g0357 others(10): Show a0001c0001t0001g0353 a0001c0001t0005g0226 a0001c0001t0005g0357 a0001c0001t0006g0181 a0001c0001t0006g0182 a0001c0001t0006g0222 a0001c0043t0002g0208 a0002c0003t0001g0210 a0002c0003t0001g0265 a0002c0003t0001g0267 a0002c0003t0002g0248 a0002c0003t0006g0268 a0022c0041t0001g0201	13	390	0.0333	-15	c.116 others(32): Show c.1167+861_1167+875delTCCTTCCCTTCCCTT		CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CNDP1_chr18_74529500_74592212	74579188	TCCTTCCC others(8): Show TCCTTCCCTTCCCTTG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp1 HG02615.hp2 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0004 a0002c0004t0002 a0001c0002t0004 a0002c0004t0002	a0001c0002t0004g0018 a0002c0004t0002g0169 a0001c0002t0004g0018 a0002c0004t0002g0169	2	390	0.0051	-15	c.116 others(32): Show c.1167+876_1167+890delGCCTTCCCTTCCCTT		CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CNGA1_chr4_47930977_48021681	47953895	GCCTTATG others(8): Show GCCTTATGCCCTCGGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(189): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01167.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0010	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 others(180): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0196 a0001c0001t0003g0019 a0001c0001t0003g0030 a0001c0001t0003g0055 a0001c0001t0003g0067 a0001c0001t0003g0076 a0001c0003t0001g0338 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0003g0020 a0001c0003t0003g0075 a0001c0003t0003g0078 a0001c0003t0003g0087 a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0003g0090 a0001c0003t0003g0091 a0001c0003t0003g0092 a0002c0002t0001g0249 a0002c0002t0001g0276 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0097 a0002c0002t0002g0113 a0002c0002t0002g0117 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0003g0073 a0002c0002t0007g0094 a0002c0002t0007g0095 a0002c0002t0007g0096 a0002c0002t0010g0178	192	366	0.5246	-15	c.-14 others(32): Show c.-14-1207_-14-1193delTCCGAGGGCATAAGG		CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10						chr4	TogoVar
CNGA1_chr4_47930977_48021681	47971902	AAACAAAC others(8): Show AAACAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(69): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01070.hp2 HG01074.hp1 HG01255.hp2 HG01257.hp1 HG01515.hp1 HG01884.hp2 HG01952.hp2 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02148.hp1 HG02273.hp1 HG02698.hp1 HG02735.hp2 HG02895.hp2 HG02922.hp2 HG03098.hp1 HG03239.hp2 HG03453.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 NA18612.hp1 NA18939.hp1 NA18942.hp1 NA18948.hp2 NA18949.hp1 NA18957.hp2 NA18962.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18992.hp2 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19078.hp2 NA19079.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 others(61): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0003g0019 a0001c0001t0003g0067 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0203 a0001c0001t0005g0342 a0002c0002t0001g0276	72	366	0.1967	-15	c.-15 others(32): Show c.-15+9476_-15+9490delGTTTGTTTGTTTGTT		CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10						chr4	TogoVar
CNGA3_chr2_98341456_98403601	98356340	GTCTGAGA others(8): Show GTCTGAGAAGATTACT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00609.hp1 others(69): Show HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01981.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18939.hp1 NA18948.hp1 NA18962.hp1 NA18964.hp1 NA18967.hp2 NA18970.hp1 NA18973.hp1 NA18977.hp1 NA18986.hp2 NA18989.hp2 NA18998.hp2 NA18999.hp1 NA19007.hp1 NA19011.hp1 NA19065.hp2 NA19067.hp1 NA19077.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA20752.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0002c0006 a0009c0010	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0002c0004t0002 a0002c0006t0003 a0009c0010t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(62): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0008g0101 a0001c0001t0009g0009 a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0029 a0001c0002t0001g0047 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0114 a0001c0002t0002g0028 a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0005g0068 a0001c0003t0001g0086 a0001c0003t0001g0095 a0001c0003t0001g0100 a0002c0004t0002g0088 a0002c0004t0002g0098 a0002c0006t0003g0030 a0002c0006t0003g0031 a0009c0010t0001g0145	72	338	0.2130	-15	c.-38 others(32): Show c.-38+9816_-38+9830delATTACTTCTGAGAAG		CNGA3	ENSG00000144191.12	transcript	ENST00000272602.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
CNGB3_chr8_86569179_86748634	86736811	TTATGGAA others(8): Show TTATGGAAGTTTTATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02074.hp2 others(11): Show HG01109.hp1 HG01884.hp1 HG02074.hp2 HG02083.hp1 HG02647.hp2 HG02683.hp1 HG02818.hp1 HG03453.hp1 HG03516.hp2 HG03579.hp1 NA18945.hp1 NA19005.hp1 NA19030.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0016 a0002c0002 a0003c0011 a0001c0016 a0002c0002 a0003c0011	a0001c0016t0001 a0002c0002t0001 a0002c0002t0006 others(1): Show a0001c0016t0001 a0002c0002t0001 a0002c0002t0006 a0003c0011t0002	a0001c0016t0001g0189 a0002c0002t0001g0178 a0002c0002t0001g0188 others(11): Show a0001c0016t0001g0189 a0002c0002t0001g0178 a0002c0002t0001g0188 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0006g0177 a0002c0002t0006g0179 a0002c0002t0006g0180 a0002c0002t0006g0181 a0002c0002t0006g0182 a0003c0011t0002g0187	14	288	0.0486	-15	c.211 others(32): Show c.211+2829_211+2843delTATAAAACTTCCATA		CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	2/17						chr8	TogoVar
CNIH3_chr1_224611317_224745554	224674272	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02976.hp2 HG03098.hp2 HG02630.hp2 HG02976.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242	3	358	0.0084	-15	c.82- others(30): Show c.82-6665_82-6651delTTTTTTTTTTTTTTT		CNIH3	ENSG00000143786.8	transcript	ENST00000272133.4	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CNKSR2_chrX_21369418_21659689	21374594	GGCAGCAG others(8): Show GGCAGCAGCAGCAGCA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0008 a0001c0001t0042g0008	1	163	0.0061	-15	c.-28 others(24): Show c.-280_-266delAGCAGCAGCAGCAGC		CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding	1/22				266	INFO_REALIGN_3_PRIME	chrX	TogoVar
CNKSR2_chrX_21369418_21659689	21452753	CTTATTTT others(8): Show CTTATTTTATTTTATT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02572.hp1 others(3): Show HG01884.hp2 HG02280.hp2 HG02572.hp1 HG02809.hp1 HG03098.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0019 a0001c0001t0041 a0001c0001t0009 a0001c0001t0019 a0001c0001t0041	a0001c0001t0009g0010 a0001c0001t0009g0011 a0001c0001t0009g0012 others(3): Show a0001c0001t0009g0010 a0001c0001t0009g0011 a0001c0001t0009g0012 a0001c0001t0009g0013 a0001c0001t0019g0014 a0001c0001t0041g0009	6	163	0.0368	-15	c.519 others(34): Show c.519+12025_519+12039delATTTTATTTTATTTT		CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding	4/21					INFO_REALIGN_3_PRIME	chrX	TogoVar
CNKSR3_chr6_154382515_154515685	154451865	TAGACATT others(8): Show TAGACATTACGCAGCA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03209.hp2 HG03195.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0076 a0001c0002t0133 a0001c0002t0076 a0001c0002t0133	a0001c0002t0076g0050 a0001c0002t0133g0167 a0001c0002t0076g0050 a0001c0002t0133g0167	2	342	0.0059	-15	c.53- others(30): Show c.53-1622_53-1608delTGCTGCGTAATGTCT		CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	1/12						chr6	TogoVar
CNKSR3_chr6_154382515_154515685	154470188	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp1 HG02109.hp2 others(2): Show HG01109.hp1 HG01496.hp1 HG02109.hp2 HG02922.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0167 a0001c0001t0168 a0001c0002t0022 a0001c0001t0167 a0001c0001t0168 a0001c0002t0022	a0001c0001t0167g0249 a0001c0001t0168g0250 a0001c0002t0022g0251 others(2): Show a0001c0001t0167g0249 a0001c0001t0168g0250 a0001c0002t0022g0251 a0001c0002t0022g0288 a0001c0002t0022g0289	5	342	0.0146	-15	c.53- others(32): Show c.53-19945_53-19931delAAAAAAAAAAAAAAA		CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	1/12						chr6	TogoVar
CNKSR3_chr6_154382515_154515685	154486464	TTTTTATT others(8): Show TTTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02258.hp2 others(13): Show HG01891.hp2 HG02055.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG02965.hp2 HG03098.hp1 HG03209.hp1 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0059 a0001c0001t0071 others(11): Show a0001c0001t0002 a0001c0001t0059 a0001c0001t0071 a0001c0001t0075 a0001c0002t0018 a0001c0002t0038 a0001c0002t0041 a0001c0002t0051 a0001c0002t0070 a0001c0002t0126 a0001c0002t0174 a0001c0002t0195 a0001c0004t0067 a0001c0005t0197	a0001c0001t0002g0136 a0001c0001t0059g0042 a0001c0001t0071g0010 others(13): Show a0001c0001t0002g0136 a0001c0001t0059g0042 a0001c0001t0071g0010 a0001c0001t0075g0051 a0001c0002t0018g0301 a0001c0002t0018g0303 a0001c0002t0038g0059 a0001c0002t0038g0177 a0001c0002t0041g0054 a0001c0002t0051g0045 a0001c0002t0070g0044 a0001c0002t0126g0302 a0001c0002t0174g0300 a0001c0002t0195g0337 a0001c0004t0067g0005 a0001c0005t0197g0336	16	342	0.0468	-15	c.52+ others(32): Show c.52+23584_52+23598delTAAAATAAAATAAAA		CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	1/12						chr6	TogoVar
CNN2_chr19_1021608_1044065	1025180	AAAAATAA others(8): Show AAAAATAAAATAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01074.hp2 others(48): Show HG00639.hp2 HG00642.hp1 HG01074.hp2 HG01099.hp2 HG01257.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01934.hp2 HG01975.hp2 HG02056.hp1 HG02135.hp1 HG02145.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02572.hp1 HG02683.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03139.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18944.hp1 NA18947.hp2 NA18955.hp2 NA18964.hp2 NA18990.hp2 NA19030.hp1 NA19056.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19240.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0002t0004 a0001c0002t0012 a0001c0003t0010 a0001c0003t0033 a0001c0004t0003 a0001c0005t0008 a0001c0009t0010	a0001c0001t0001g0014 a0001c0001t0001g0053 a0001c0001t0001g0170 others(40): Show a0001c0001t0001g0014 a0001c0001t0001g0053 a0001c0001t0001g0170 a0001c0001t0001g0194 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0002g0007 a0001c0001t0002g0096 a0001c0001t0002g0207 a0001c0001t0002g0222 a0001c0001t0005g0034 a0001c0001t0005g0165 a0001c0001t0005g0251 a0001c0001t0009g0007 a0001c0001t0009g0171 a0001c0001t0009g0216 a0001c0001t0009g0220 a0001c0002t0004g0007 a0001c0002t0004g0018 a0001c0002t0004g0040 a0001c0002t0004g0206 a0001c0002t0004g0215 a0001c0002t0004g0223 a0001c0002t0004g0224 a0001c0002t0004g0228 a0001c0002t0004g0230 a0001c0002t0004g0234 a0001c0002t0004g0236 a0001c0002t0004g0237 a0001c0002t0012g0221 a0001c0002t0012g0238 a0001c0002t0012g0240 a0001c0003t0010g0166 a0001c0003t0010g0169 a0001c0003t0033g0164 a0001c0004t0003g0195 a0001c0004t0003g0198 a0001c0005t0008g0249 a0001c0009t0010g0167 a0001c0009t0010g0168	51	390	0.1308	-15	c.-14 others(26): Show c.-1481_-1467delAAAATAAAATAAAAT		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding					1427		chr19	TogoVar
CNNM1_chr10_99324356_99399330	99356585	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	320	0.0031	-15	c.157 others(32): Show c.1574-924_1574-910delGAAAGAAAGAAAGAA		CNNM1	ENSG00000119946.12	transcript	ENST00000356713.5	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	103028814	CTTTTTTT others(8): Show CTTTTTTTTTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03491.hp1 HG03492.hp1 HG02683.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0036 a0001c0001t0002 a0001c0001t0036	a0001c0001t0002g0069 a0001c0001t0002g0100 a0001c0001t0036g0099 a0001c0001t0002g0069 a0001c0001t0002g0100 a0001c0001t0036g0099	3	270	0.0111	-15	c.162 others(36): Show c.1622-20879_1622-20865delCTTTTTTTTTTTTTT		CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM4_chr2_96755902_96816874	96765024	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19043.hp2 HG03209.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0117 a0001c0001t0004g0118	2	270	0.0074	-15	c.140 others(34): Show c.1402+2651_1402+2665delTTTTTTTTTTTTTTT		CNNM4	ENSG00000158158.12	transcript	ENST00000377075.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
CNNM4_chr2_96755902_96816874	96773796	TCATGCCA others(8): Show TCATGCCACTGCACTC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	270	0.0037	-15	c.140 others(36): Show c.1402+11398_1402+11412delTGCCACTGCACTCCA		CNNM4	ENSG00000158158.12	transcript	ENST00000377075.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
CNNM4_chr2_96755902_96816874	96774960	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	270	0.0037	-15	c.140 others(36): Show c.1402+12583_1402+12597delAAAAAAAAAAAAAAA		CNNM4	ENSG00000158158.12	transcript	ENST00000377075.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
CNOT10_chr3_32680188_32778875	32725927	AGTTTTGT others(8): Show AGTTTTGTTTTGTTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	354	0.0028	-15	c.101 others(32): Show c.1012+350_1012+364delTTTTGTTTTGTTTTG		CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT1_chr16_58514951_58634826	58522237	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18965.hp2 NA20129.hp1 others(1): Show HG02809.hp1 NA18965.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0001 a0001c0002t0010	a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0001g0106 others(1): Show a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0010g0107	4	308	0.0130	-15	c.691 others(32): Show c.6918-935_6918-921delTTTTTTTTTTTTTTT		CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	47/48						chr16	TogoVar
CNOT1_chr16_58514951_58634826	58631938	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02818.hp1 HG03098.hp2 HG02647.hp1 HG02818.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0187 a0001c0001t0001g0001 a0001c0001t0001g0187	3	308	0.0097	-15	c.-24 others(26): Show c.-2400_-2386delAAAAAAAAAAAAAAA		CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding					2113		chr16	TogoVar
CNOT2_chr12_70238433_70359993	70265273	TTCTTCTC others(8): Show TTCTTCTCTTCTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	280	0.0036	-15	c.-95 others(34): Show c.-95-12819_-95-12805delCTCTTCTCTTCTCTT		CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
CNOT2_chr12_70238433_70359993	70288136	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01123.hp1 HG01952.hp1 others(3): Show HG01099.hp2 HG01123.hp1 HG01952.hp1 HG01978.hp2 HG02135.hp1 HG02300.hp1	a0000 a0000	a0000c0003 a0000c0003	a0000c0003t0001 a0000c0003t0001	a0000c0003t0001g0074 a0000c0003t0001g0121 a0000c0003t0001g0122 others(3): Show a0000c0003t0001g0074 a0000c0003t0001g0121 a0000c0003t0001g0122 a0000c0003t0001g0123 a0000c0003t0001g0124 a0000c0003t0001g0130	6	280	0.0214	-15	c.48+ others(30): Show c.48+9872_48+9886delTTTTTTTTTTTTTTT		CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
CNOT3_chr19_54132762_54160681	54133893	CCCCTCAC others(8): Show CCCCTCACTCCACCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19067.hp1 NA19011.hp2 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0117 a0001c0002t0001g0002 a0001c0002t0001g0117	2	223	0.0090	-15	c.-41 others(26): Show c.-4150_-4136delCCCTCACTCCACCTT		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					3868		chr19	TogoVar
CNOT4_chr7_135356795_135515102	135399972	GTTTAAAC others(8): Show GTTTAAACAAACAAAC	G G	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0052	1	362	0.0028	-15	c.822 others(32): Show c.822-1761_822-1747delGTTTGTTTGTTTAAA		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	7/11						chr7	TogoVar
CNOT4_chr7_135356795_135515102	135424039	AAACACAC others(8): Show AAACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA19063.hp2 HG03669.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0047 a0002c0002t0001g0030 a0002c0002t0001g0047	2	362	0.0055	-15	c.175 others(32): Show c.175-1701_175-1687delGTGTGTGTGTGTGTT		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	2/11						chr7	TogoVar
CNOT4_chr7_135356795_135515102	135444144	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	362	0.0028	-15	c.-92 others(32): Show c.-92-5736_-92-5722delATTATTATTATTATT		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNOT4_chr7_135356795_135515102	135472509	AAAAAAAT others(8): Show AAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	362	0.0028	-15	c.-92 others(34): Show c.-92-34101_-92-34087delATATATATATTTTTT		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNOT4_chr7_135356795_135515102	135472511	AAAAATAT others(8): Show AAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	362	0.0028	-15	c.-92 others(34): Show c.-92-34103_-92-34089delATATATATATATTTT		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNOT4_chr7_135356795_135515102	135495679	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	362	0.0028	-15	c.-93 others(34): Show c.-93+14195_-93+14209delCTTTTTTTTTTTTTT		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNOT4_chr7_135356795_135515102	135495683	AAAAAAAA others(8): Show AAAAAAAAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	362	0.0028	-15	c.-93 others(34): Show c.-93+14191_-93+14205delCTTTCTTTTTTTTTT		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNOT4_chr7_135356795_135515102	135495691	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	362	0.0028	-15	c.-93 others(34): Show c.-93+14183_-93+14197delCTTTCTTTCTTTCTT		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNOT6L_chr4_77708387_77824368	77737406	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03540.hp1 HG02451.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0038 a0001c0001t0037 a0001c0001t0038	a0001c0001t0037g0269 a0001c0001t0038g0223 a0001c0001t0037g0269 a0001c0001t0038g0223	2	328	0.0061	-15	c.872 others(32): Show c.872+4720_872+4734delAAAAAAAAAAAAAAA		CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	8/11						chr4	TogoVar
CNOT6L_chr4_77708387_77824368	77789945	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG02735.hp1 others(11): Show HG01891.hp2 HG02280.hp1 HG02735.hp1 HG02809.hp2 HG02965.hp2 HG02970.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0001t0023 a0001c0001t0024 others(5): Show a0001c0001t0008 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0003t0030	a0001c0001t0008g0206 a0001c0001t0008g0212 a0001c0001t0008g0213 others(11): Show a0001c0001t0008g0206 a0001c0001t0008g0212 a0001c0001t0008g0213 a0001c0001t0008g0241 a0001c0001t0008g0268 a0001c0001t0008g0307 a0001c0001t0008g0313 a0001c0001t0023g0310 a0001c0001t0024g0319 a0001c0001t0025g0320 a0001c0001t0039g0318 a0001c0001t0040g0327 a0001c0001t0041g0171 a0001c0003t0030g0172	14	328	0.0427	-15	c.6-1 others(30): Show c.6-13568_6-13554delTTTTTTTTTTTTTTT		CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11						chr4	TogoVar
CNOT6_chr5_180489379_180583358	180510134	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02818.hp2 HG06807.hp1 others(2): Show HG01884.hp2 HG02818.hp2 HG06807.hp1 NA19060.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0105 a0001c0001t0001g0250 a0001c0001t0013g0104 others(2): Show a0001c0001t0001g0105 a0001c0001t0001g0250 a0001c0001t0013g0104 a0001c0001t0013g0106 a0001c0001t0013g0107	5	334	0.0150	-15	c.-3+ others(32): Show c.-3+15392_-3+15406delTTTTTTTTTTTTTTT		CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CNOT6_chr5_180489379_180583358	180539548	GTTCTTTT others(8): Show GTTCTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03486.hp2 HG02818.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0212 a0001c0001t0011g0216 a0001c0001t0011g0212 a0001c0001t0011g0216	2	334	0.0060	-15	c.112 others(34): Show c.112+10163_112+10177delCTTTTTTTTTTTTTT		CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CNOT6_chr5_180489379_180583358	180564366	AGTCTGAC others(8): Show AGTCTGACATCTTACT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp2 HG01167.hp2 others(16): Show HG00738.hp2 HG01071.hp2 HG01167.hp2 HG01169.hp2 HG01257.hp2 HG01258.hp2 HG01515.hp1 HG02027.hp1 HG02074.hp1 HG02083.hp1 HG02683.hp2 NA18612.hp2 NA18747.hp1 NA18957.hp2 NA18980.hp1 NA18990.hp2 NA19085.hp1 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 others(4): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0023 a0001c0001t0027 a0001c0001t0035 a0001c0001t0036	a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0195 others(16): Show a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0195 a0001c0001t0003g0200 a0001c0001t0003g0207 a0001c0001t0003g0290 a0001c0001t0009g0010 a0001c0001t0009g0014 a0001c0001t0009g0015 a0001c0001t0010g0016 a0001c0001t0010g0187 a0001c0001t0010g0193 a0001c0001t0010g0194 a0001c0001t0010g0198 a0001c0001t0023g0009 a0001c0001t0027g0186 a0001c0001t0027g0190 a0001c0001t0035g0017 a0001c0001t0036g0192	19	334	0.0569	-15	c.386 others(30): Show c.386-122_386-108delGTCTGACATCTTACT		CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	4/11						chr5	TogoVar
CNPY2_chr12_56304844_56320988	56315173	CAGCAGGG others(8): Show CAGCAGGGCCCCCAGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0021	1	372	0.0027	-15	c.30_ others(20): Show c.30_44delTCTGGGGGCCCTGCT	p.Leu others(11): Show p.Leu11_Leu15del	CNPY2	ENSG00000257727.6	transcript	ENST00000273308.9	protein_coding	2/6	237/1450	30/549	10/182			chr12	TogoVar
CNPY4_chr7_100114634_100130508	100121108	ATATATAT others(8): Show ATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18968.hp1 HG01081.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	2	416	0.0048	-15	c.119 others(32): Show c.119-1149_119-1135delATATATATTTTTTTT		CNPY4	ENSG00000166997.8	transcript	ENST00000262932.5	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)