Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
COLEC11_chr2_3590112_3649644	3590651	A A	AGGCGGGG others(42): Show AGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp2 HG02257.hp1 others(15): Show HG02083.hp1 HG02083.hp2 HG02257.hp1 HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03453.hp1 HG03579.hp2 NA19012.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0002c0005 a0002c0006	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0002c0005t0002 a0002c0006t0001	a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 others(14): Show a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0001g0335 a0001c0001t0001g0343 a0001c0001t0001g0355 a0002c0002t0001g0011 a0002c0002t0001g0324 a0002c0002t0001g0327 a0002c0002t0001g0341 a0002c0004t0001g0322 a0002c0004t0001g0326 a0002c0005t0002g0348 a0002c0006t0001g0329 a0002c0006t0001g0333	18	378	0.0476	49	c.-45 others(60): Show c.-4544_-4543insGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGA CAGGGCGGCTGGCCG		COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding					4460		chr2	TogoVar
COLEC11_chr2_3590112_3649644	3590651	A A	AGGCGGGG others(42): Show AGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01123.hp1 others(17): Show HG00738.hp2 HG01099.hp1 HG01123.hp1 HG01358.hp1 HG02056.hp2 HG02145.hp1 HG02615.hp2 HG02735.hp1 HG02809.hp1 HG02970.hp2 HG03130.hp2 HG03471.hp1 HG03486.hp1 HG03654.hp2 NA18747.hp1 NA18940.hp2 NA18959.hp2 NA19002.hp2 NA19030.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0006	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0002c0006t0001	a0001c0001t0001g0201 a0001c0001t0001g0270 a0001c0001t0001g0271 others(17): Show a0001c0001t0001g0201 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0299 a0002c0002t0001g0044 a0002c0002t0001g0065 a0002c0002t0001g0302 a0002c0002t0001g0318 a0002c0002t0001g0363 a0002c0003t0001g0277 a0002c0006t0001g0200	20	378	0.0529	49	c.-45 others(60): Show c.-4544_-4543insGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCG		COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding					4460		chr2	TogoVar
COLEC11_chr2_3590112_3649644	3613041	G G	GGAGCCCG others(42): Show GGAGCCCGCCAAGAGGGATAACTGGTGAGAGAAACACAGGCCCTTTCTAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp1 HG03579.hp2 HG02647.hp1 HG02886.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0319 a0001c0001t0001g0323 a0002c0002t0001g0191 a0001c0001t0001g0319 a0001c0001t0001g0323 a0002c0002t0001g0191	3	378	0.0079	49	c.131 others(64): Show c.131-254_131-253insATAACTGGTGAGAGAAACACAGGCCCTTTC TAAGAGCCCGCCAAGAGGG		COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD10_chr5_116080025_116298287	116158501	T T	TCTCCTCT others(42): Show TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02148.hp2 NA18998.hp2 HG00423.hp2 HG02148.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0309 a0001c0001t0001g0317 a0001c0001t0001g0319	3	350	0.0086	49	c.510 others(68): Show c.510+24324_510+24325insTCCTCTCTCTCCGTCTCCTCTCTCTC CGTCTCCTCTCTCCCCCTCCCCC		COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr5	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAAGAAA others(42): Show GAAAGAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0039 a0002c0003t0001g0039	1	330	0.0030	49	c.735 others(64): Show c.735+442_735+443insTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TCTTTCTTTCTTTTTCTTT		COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9						chr19	TogoVar
COQ2_chr4_83258824_83289798	83276070	T T	TTATATAA others(42): Show TTATATAATATATAAAATATATATTATATATAATATATATTTTATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0052 a0002c0003t0001g0052	1	344	0.0029	49	c.421 others(66): Show c.421-2454_421-2453insTATATATAAAATATATATTATATATAAT ATATATTTTATATATTATATA		COQ2	ENSG00000173085.15	transcript	ENST00000647002.2	protein_coding	2/6						chr4	TogoVar
COX19_chr7_959852_980549	977837	G G	GGTCCCCA others(42): Show GGTCCCCACTGCCTGCGGTTCAGAAAATTCAGTGCCAGACTCGCGGCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0154 a0001c0001t0041g0154	1	432	0.0023	49	c.-23 others(60): Show c.-2329_-2328insTGAGCCGCGAGTCTGGCACTGAATTTTCTGAACC GCAGGCAGTGGGGAC		COX19	ENSG00000240230.6	transcript	ENST00000344111.4	protein_coding					2289		chr7	TogoVar
CPLX1_chr4_779957_831129	825979	G G	GCCGGGGC others(42): Show GCCGGGGCCGGCGGGAGAAGCGGGGAGAAGCCGGGGCCGGGGAGGAGAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(293): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0003t0007 a0002c0002t0007	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(278): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0292 a0001c0001t0001g0341 a0001c0001t0001g0383 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0129 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0175 a0001c0001t0002g0244 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0318 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0347 a0001c0001t0002g0351 a0001c0001t0002g0378 a0001c0001t0003g0020 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0168 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0258 a0001c0001t0003g0316 a0001c0001t0003g0346 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0003g0364 a0001c0001t0003g0365 a0001c0001t0003g0366 a0001c0001t0003g0367 a0001c0001t0003g0369 a0001c0001t0003g0373 a0001c0001t0003g0374 a0001c0001t0003g0375 a0001c0001t0003g0376 a0001c0001t0003g0380 a0001c0001t0003g0381 a0001c0001t0003g0382 a0001c0001t0003g0384 a0001c0001t0004g0128 a0001c0001t0004g0240 a0001c0001t0004g0250 a0001c0001t0004g0264 a0001c0001t0005g0130 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0144 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0152 a0001c0001t0005g0154 a0001c0001t0005g0156 a0001c0001t0005g0170 a0001c0001t0005g0201 a0001c0001t0005g0203 a0001c0001t0005g0223 a0001c0001t0005g0363 a0001c0001t0005g0371 a0001c0001t0005g0372 a0001c0001t0006g0155 a0001c0001t0006g0190 a0001c0001t0006g0202 a0001c0001t0006g0262 a0001c0001t0006g0266 a0001c0001t0006g0275 a0001c0001t0006g0278 a0001c0001t0006g0291 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0317 a0001c0001t0006g0330 a0001c0001t0006g0331 a0001c0001t0006g0332 a0001c0001t0006g0370 a0001c0001t0006g0377 a0001c0001t0007g0012 a0001c0001t0007g0138 a0001c0001t0007g0194 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0007g0215 a0001c0001t0007g0216 a0001c0001t0007g0217 a0001c0001t0007g0226 a0001c0001t0007g0252 a0001c0001t0007g0253 a0001c0001t0007g0254 a0001c0001t0007g0257 a0001c0001t0007g0259 a0001c0001t0007g0261 a0001c0001t0007g0279 a0001c0001t0007g0280 a0001c0001t0007g0282 a0001c0001t0007g0283 a0001c0001t0007g0293 a0001c0001t0007g0305 a0001c0001t0007g0320 a0001c0001t0007g0340 a0001c0001t0008g0008 a0001c0001t0008g0016 a0001c0001t0008g0131 a0001c0001t0008g0132 a0001c0001t0008g0133 a0001c0001t0008g0220 a0001c0001t0008g0247 a0001c0001t0008g0260 a0001c0001t0008g0265 a0001c0001t0008g0284 a0001c0001t0008g0295 a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0335 a0001c0001t0008g0336 a0001c0001t0008g0339 a0001c0001t0008g0342 a0001c0001t0008g0343 a0001c0001t0008g0344 a0001c0001t0008g0345 a0001c0001t0009g0005 a0001c0001t0009g0037 a0001c0001t0009g0267 a0001c0001t0009g0268 a0001c0001t0009g0277 a0001c0001t0009g0294 a0001c0001t0009g0296 a0001c0001t0009g0297 a0001c0001t0009g0298 a0001c0001t0009g0301 a0001c0001t0009g0303 a0001c0001t0009g0304 a0001c0001t0009g0319 a0001c0001t0009g0329 a0001c0001t0009g0359 a0001c0001t0010g0209 a0001c0001t0010g0213 a0001c0001t0011g0009 a0001c0001t0011g0146 a0001c0001t0011g0147 a0001c0001t0011g0153 a0001c0001t0011g0176 a0001c0001t0011g0328 a0001c0001t0011g0379 a0001c0001t0012g0021 a0001c0001t0012g0022 a0001c0001t0012g0023 a0001c0001t0013g0015 a0001c0001t0014g0181 a0001c0001t0014g0182 a0001c0001t0015g0127 a0001c0001t0015g0302 a0001c0001t0017g0126 a0001c0001t0018g0024 a0001c0001t0019g0368 a0001c0001t0021g0323 a0001c0001t0022g0356 a0001c0001t0023g0348 a0001c0001t0024g0281 a0001c0001t0025g0210 a0001c0001t0027g0287 a0001c0001t0029g0362 a0001c0003t0007g0327 a0002c0002t0007g0183	296	416	0.7115	49	c.-80 others(62): Show c.-80+66_-80+67insTTTCTCCTCCCCGGCCCCGGCTTCTCCCCGCT TCTCCCGCCGGCCCCGG		CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding	1/3						chr4	TogoVar
CPLX1_chr4_779957_831129	826262	C C	CCGGGGGC others(42): Show CCGGGGGCGGGGGCGGGGGCGGGGGTGGACCCGGGGGCGGGGGGCGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	416	0.0024	49	c.-29 others(58): Show c.-297_-296insCCCCCGCCCCCCGCCCCCGGGTCCACCCCCGCCCCC GCCCCCGCCCCCG		CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding					134		chr4	TogoVar
CPNE7_chr16_89570758_89602246	89581219	T T	TGGAACAT others(42): Show TGGAACATCCCATCACCCACTCACACGGAACATCCGATCACCCATCACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00621.hp2 others(25): Show HG00438.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG01074.hp1 HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01943.hp2 HG01975.hp2 HG02132.hp1 HG02155.hp1 HG02293.hp2 HG02602.hp1 HG03927.hp2 NA18950.hp2 NA18979.hp2 NA18980.hp1 NA18994.hp1 NA19005.hp2 NA19010.hp1 NA19054.hp1 NA19065.hp1 NA19084.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0005t0002 a0002c0003t0002 a0002c0003t0004 a0002c0004t0002 a0002c0004t0014	a0001c0001t0001g0318 a0001c0002t0002g0316 a0001c0002t0003g0313 others(22): Show a0001c0001t0001g0318 a0001c0002t0002g0316 a0001c0002t0003g0313 a0001c0005t0002g0302 a0001c0005t0002g0303 a0001c0005t0002g0310 a0001c0005t0002g0317 a0001c0005t0002g0323 a0002c0003t0002g0312 a0002c0003t0004g0306 a0002c0004t0002g0001 a0002c0004t0002g0016 a0002c0004t0002g0279 a0002c0004t0002g0301 a0002c0004t0002g0304 a0002c0004t0002g0307 a0002c0004t0002g0308 a0002c0004t0002g0309 a0002c0004t0002g0311 a0002c0004t0002g0314 a0002c0004t0002g0315 a0002c0004t0002g0319 a0002c0004t0002g0324 a0002c0004t0002g0332 a0002c0004t0014g0305	28	348	0.0805	49	c.358 others(66): Show c.358-2436_358-2435insATCACACGGAACATCCCATCACCCACTC ACACGGAACATCCGATCACCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587785	C C	CCCGTGTC others(42): Show CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	348	0.0029	49	c.927 others(64): Show c.927+684_927+685insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCGC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587785	C C	CCCGTGTT others(42): Show CCCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0139 a0002c0003t0003g0139	1	348	0.0029	49	c.927 others(64): Show c.927+684_927+685insCGTGTTACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCGC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587785	C C	CCGTGTCA others(42): Show CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	348	0.0029	49	c.927 others(64): Show c.927+693_927+694insGCGTGTCACCCACAGATACACGGCCCCCCG TGTCACCCGCGTGTCACCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587849	C C	CCCGTGTC others(42): Show CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG04115.hp1 HG02055.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0216 a0001c0001t0001g0184 a0001c0001t0001g0216	2	348	0.0058	49	c.927 others(64): Show c.927+748_927+749insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCGC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587951	C C	CCGTGTCA others(42): Show CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCATGTCACCTG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	348	0.0029	49	c.928 others(64): Show c.928-719_928-718insCACCCGCGTGTCACCCACAGATACACGGCC CCCCATGTCACCTGCGTGT		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587951	C C	CCGTGTCA others(42): Show CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 NA18990.hp1 HG00423.hp2 HG00621.hp1 NA18990.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0006 a0002c0003 a0003c0006	a0002c0003t0002 a0003c0006t0003 a0002c0003t0002 a0003c0006t0003	a0002c0003t0002g0119 a0003c0006t0003g0231 a0003c0006t0003g0342 a0002c0003t0002g0119 a0003c0006t0003g0231 a0003c0006t0003g0342	3	348	0.0086	49	c.928 others(64): Show c.928-719_928-718insCACCCGCGTGTCACCCACAGATACACGGCC CCCCGTGTCACCCGCGTGT		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587977	C C	CCCGTGTT others(42): Show CCCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0128 a0002c0003t0003g0128	1	348	0.0029	49	c.928 others(64): Show c.928-697_928-696insCGTGTTACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCGC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588075	T T	TACCCGCG others(42): Show TACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCCCGTGTC	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0181 a0001c0002t0003g0181	1	348	0.0029	49	c.928 others(64): Show c.928-596_928-595insGCGTGTCACCCACAGATACACGGCCCCCCG TGTCACCCCCGTGTCACCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588095	C C	CCCGTGTC others(42): Show CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	348	0.0029	49	c.928 others(64): Show c.928-579_928-578insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCGC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588095	C C	CCGTGTCA others(42): Show CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	348	0.0029	49	c.928 others(64): Show c.928-570_928-569insGCGTGTCACCCACAGATACACGGCCCCCCG TGTCACCCGCGTGTCACCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPT1C_chr19_49686116_49718731	49702004	T T	TTAAATAT others(42): Show TTAAATATATTTATTTATAAATAAATATATATTTATTTATAAATTATAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	350	0.0029	49	c.693 others(64): Show c.693+391_693+392insAAATATATATTTATTTATAAATTATAAATA AATATATTTATTTATAAAT		CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
CPTP_chr1_1319802_1333896	1324172	G G	GGGGCTCG others(42): Show GGGGCTCGGGGGGCTGGGGGGCTGCTGGGCTGAGAGGCTGGGAGACTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	49	c.-10 others(60): Show c.-1006_-1005insGGGCTCGGGGGGCTGGGGGGCTGCTGGGCTGAGA GGCTGGGAGACTGGA		CPTP	ENSG00000224051.7	transcript	ENST00000343938.9	protein_coding					629		chr1	TogoVar
CR1_chr1_207491157_207646765	207525483	T T	TGCTGGAG others(42): Show TGCTGGAGCCAAAGTCATTGGCATCGTTACAATTGAAGCTGTAGCTACTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0139 a0001c0001t0007g0139	1	360	0.0028	49	c.887 others(66): Show c.887-1269_887-1221dupGCTGGAGCCAAAGTCATTGGCATCGTTA CAATTGAAGCTGTAGCTACTC		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	5/46					INFO_REALIGN_3_PRIME	chr1	TogoVar
CREB1_chr2_207524962_207610988	207610974	G G	GTCAGCCC others(42): Show GTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG00741.hp1 others(20): Show HG00099.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01496.hp2 HG01891.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG03209.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03710.hp1 NA18906.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 others(3): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0034 a0001c0001t0036	a0001c0001t0005g0029 a0001c0001t0005g0263 a0001c0001t0005g0268 others(20): Show a0001c0001t0005g0029 a0001c0001t0005g0263 a0001c0001t0005g0268 a0001c0001t0005g0276 a0001c0001t0005g0278 a0001c0001t0005g0281 a0001c0001t0005g0284 a0001c0001t0005g0288 a0001c0001t0005g0290 a0001c0001t0006g0030 a0001c0001t0006g0264 a0001c0001t0006g0274 a0001c0001t0006g0275 a0001c0001t0006g0277 a0001c0001t0006g0279 a0001c0001t0006g0280 a0001c0001t0006g0285 a0001c0001t0006g0289 a0001c0001t0009g0283 a0001c0001t0009g0286 a0001c0001t0013g0266 a0001c0001t0034g0287 a0001c0001t0036g0282	23	308	0.0747	49	c.13 others(62): Show c.13916_*13917insTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGA		CREB1	ENSG00000118260.15	transcript	ENST00000353267.8	protein_coding					4987		chr2	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCCCAC others(42): Show CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0168 a0001c0003t0002g0168	1	324	0.0031	49	c.101 others(66): Show c.1010-538_1010-537insCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCCCACCCCGGGTCCCC		CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr22	TogoVar
CRLF3_chr17_30777684_30829692	30808013	G G	GATTCAGC others(42): Show GATTCAGCTCACCATCATCCAGAGACAAAGAAAAAAATAAAATAGAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	324	0.0031	49	c.130 others(66): Show c.130-3906_130-3905insTTTTTCTATTTTATTTTTTTCTTTGTCT CTGGATGATGGTGAGCTGAAT		CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	1/7						chr17	TogoVar
CROCC2_chr2_240901336_240998311	240904616	C C	CGGATGCC others(42): Show CGGATGCCCCTTCCTCACTCTACCCCGCCCTGCCGTCCACAGGTCCACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 NA18960.hp1 HG02572.hp2 NA18960.hp1	a0010 a0024 a0010 a0024	a0010c0009 a0024c0091 a0010c0009 a0024c0091	a0010c0009t0001 a0024c0091t0001 a0010c0009t0001 a0024c0091t0001	a0010c0009t0001g0076 a0024c0091t0001g0133 a0010c0009t0001g0076 a0024c0091t0001g0133	2	350	0.0057	49	c.-18 others(60): Show c.-1898_-1897insGGATGCCCCTTCCTCACTCTACCCCGCCCTGCCG TCCACAGGTCCACAT		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding					1719		chr2	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATAGATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0093 a0002c0002t0093	a0002c0002t0093g0230 a0002c0002t0093g0230	1	290	0.0035	49	c.684 others(68): Show c.684+33309_684+33310insATATATCTATATATATATATATATAT ATATATATTTTTTTTTTTTTTTT		CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9						chr7	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATAGATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0235 a0002c0002t0021g0235	1	290	0.0035	49	c.684 others(68): Show c.684+33309_684+33310insATATATCTATATATATATATATATAT ATATATATATTTTTTTTTTTTTT		CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9						chr7	TogoVar
CRTC3_chr15_90524923_90650345	90647321	T T	TCCTCCTC others(42): Show TCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0032 a0003c0003t0009g0032	1	276	0.0036	49	c.51 others(60): Show c.5181_*5182insCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCA ATCCTCCTCCACACC		CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding					1977		chr15	TogoVar
CRYBB2_chr22_25214639_25236869	25218814	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	464	0.0022	49	c.-87 others(58): Show c.-879_-878insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGA		CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding					824		chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106361969	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01928.hp1 NA19077.hp2 HG01070.hp2 HG01928.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0011 a0001c0001 a0002c0003 a0002c0011	a0001c0001t0005 a0002c0003t0006 a0002c0011t0003 a0001c0001t0005 a0002c0003t0006 a0002c0011t0003	a0001c0001t0005g0135 a0002c0003t0006g0134 a0002c0011t0003g0003 a0001c0001t0005g0135 a0002c0003t0006g0134 a0002c0011t0003g0003	3	272	0.0110	49	c.173 others(64): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTT		CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106361972	T T	TCTTTCTT others(42): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18948.hp1 NA18945.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0089 a0001c0001t0001g0090	2	272	0.0074	49	c.173 others(64): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTC		CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21						chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106483401	T T	TATATATA others(42): Show TATATATATGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	272	0.0037	49	c.313 others(68): Show c.313-28028_313-28027insTATATATGTATATATATATATATATA TATATATATATATATATATATAA		CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
CSH1_chr17_63889918_63901574	63898148	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTCTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	49	c.-16 others(60): Show c.-1638_-1637insAAGAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGA GAAGAAAGAAAGAAA		CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding					1575		chr17	TogoVar
CSMD1_chr8_2930361_4999914	3039361	C C	CTCTCCCT others(42): Show CTCTCCCTCCCTTCCTTCTTTTCCTTACTTCCTTCCTCTCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02886.hp1 HG02922.hp2 others(3): Show HG01123.hp1 HG02886.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 NA20129.hp1	a0001 a0008 a0014 others(2): Show a0001 a0008 a0014 a0018 a0031	a0001c0026 a0001c0039 a0008c0008 others(3): Show a0001c0026 a0001c0039 a0008c0008 a0014c0010 a0018c0044 a0031c0069	a0001c0026t0006 a0001c0039t0066 a0008c0008t0082 others(3): Show a0001c0026t0006 a0001c0039t0066 a0008c0008t0082 a0014c0010t0070 a0018c0044t0064 a0031c0069t0043	a0001c0026t0006g0093 a0001c0039t0066g0080 a0008c0008t0082g0126 others(3): Show a0001c0026t0006g0093 a0001c0039t0066g0080 a0008c0008t0082g0126 a0014c0010t0070g0084 a0018c0044t0064g0085 a0031c0069t0043g0100	6	126	0.0476	49	c.766 others(68): Show c.7661-9849_7661-9848insAAGGGAGGGAGAGAGGAAGGAAGTAA GGAAAAGAAGGAAGGGAGGGAGA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	50/69						chr8	TogoVar
CSRNP3_chr2_165464698_165694407	165667003	G G	GAGGAAGG others(42): Show GAGGAAGGAAGGAAGGAAAGAGAGAGAGGAAGAAAGAAAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03041.hp1 others(1): Show HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0035 a0001c0001t0067 others(1): Show a0001c0001t0003 a0001c0001t0035 a0001c0001t0067 a0001c0002t0097	a0001c0001t0003g0217 a0001c0001t0035g0181 a0001c0001t0067g0216 others(1): Show a0001c0001t0003g0217 a0001c0001t0035g0181 a0001c0001t0067g0216 a0001c0002t0097g0196	4	246	0.0163	49	c.408 others(66): Show c.408+9011_408+9059dupGAAGAAAGAAAGAGAGAGAGAAAGGAAG GAAGGAAGGAAAGAGAGAGAG		CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
CST8_chr20_23486117_23501010	23490347	A A	ATATTAAT others(42): Show ATATTAATTATATATATATAAAATATATATAAATTATATATATATTAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG03704.hp2 HG00735.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	440	0.0046	49	c.-11 others(60): Show c.-1139_-1138insTATTAATTATATATATATAAAATATATATAAATT ATATATATATTAATT		CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding					769		chr20	TogoVar
CSTPP1_chr11_46931761_47167247	47097419	T T	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00609.hp1 others(103): Show HG00280.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01243.hp1 HG01257.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18955.hp2 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18995.hp2 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19056.hp1 NA19062.hp2 NA19080.hp2 NA19084.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0004 a0005c0006 others(1): Show a0001c0001 a0001c0004 a0005c0006 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0005c0006t0001 a0006c0009t0001	a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0084 others(103): Show a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0217 a0001c0004t0001g0111 a0005c0006t0001g0200 a0006c0009t0001g0088	106	224	0.4732	49	c.281 others(68): Show c.281-40187_281-40186insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGG		CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47097452	G G	GGGGGGGT others(42): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp2 HG01257.hp1 others(18): Show HG00735.hp2 HG01074.hp2 HG01257.hp1 HG01261.hp2 HG01515.hp2 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03688.hp2 HG03704.hp2 HG04115.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0004g0220	21	224	0.0938	49	c.281 others(68): Show c.281-40187_281-40186insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTCGGGGGG		CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
CS_chr12_56266699_56305330	56282972	A A	AAGCCTCG others(42): Show AAGCCTCGGAAACGGATGCCCTTGAGAGAGGAGAGAGAGAATTACAACTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0204 a0002c0004t0001g0204	1	316	0.0032	49	c.268 others(59): Show c.268-30_286dupGAGTTGTAATTCTCTCTCTCCTCTCTCAAGGGCAT CCGTTTCCGAGGCT	p.Phe others(4): Show p.Phe96fs	CS	ENSG00000062485.19	transcript	ENST00000351328.8	protein_coding	5/11	415/2915	286/1401	96/466			chr12	TogoVar
CT45A1_chrX_135708639_135728228	135723962	C C	CATATATG others(42): Show CATATATGGTATATATACCATATATGGTATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	57	0.0175	49	c.92 others(58): Show c.929_*930insATATATGGTATATATACCATATATGGTATATATATA TATATATATATAT		CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding					735		chrX	TogoVar
CTBP1_chr4_1206445_1254130	1210755	C C	CACCCGCT others(42): Show CACCCGCTGCAGTCCTCGTACTACCTGCGCTGCATCCTCGCACCGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	422	0.0024	49	c.14 others(60): Show c.1484_*1485insCCAGGCGGTGCGAGGATGCAGCGCAGGTAGTACG AGGACTGCAGCGGGT		CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding					689		chr4	TogoVar
CTNNA1_chr5_138748425_138940034	138776856	T T	TCCCCCAC others(42): Show TCCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGGGGGCTGACC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0072	1	180	0.0056	49	c.-2- others(64): Show c.-2-5048_-2-5000dupGCGGGGCGGCTGGCCGGGCAGGGGGCTGAC CCCCCCACCTCCCTCCCGG		CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA1_chr5_138748425_138940034	138916177	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	180	0.0056	49	c.139 others(68): Show c.1390-1551_1390-1550insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA		CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNND2_chr5_10966836_11909446	11817446	A A	AGGAGGAG others(42): Show AGGAGGAGAGAGAGAGAGGGGGGGATAGAGGGGGAGAGCGAGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	26	0.0385	49	c.38- others(66): Show c.38-85175_38-85174insCCTCCCTCCTCGCTCTCCCCCTCTATCC CCCCCTCTCTCTCTCTCCTCC		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21						chr5	TogoVar
CTSS_chr1_150725188_150770778	150728583	C C	CCCCCCCC others(42): Show CCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	1	344	0.0029	49	c.44 others(60): Show c.4462_*4463insTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGG AGGGAGGTGGGGGGG		CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding					1604		chr1	TogoVar
CTXND1_chr15_80190481_80257213	80205961	G G	GAAAGAAA others(42): Show GAAAGAAAATTTGAAAGAAGAAGTCAAAGAGGAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0076 a0001c0003t0076	a0001c0003t0076g0375 a0001c0003t0076g0375	1	396	0.0025	49	c.-21 others(68): Show c.-217-2222_-217-2221insTTTTTTTTTTTTTTTTTTCCTCTTTG ACTTCTTCTTTCAAATTTTCTTT		CTXND1	ENSG00000259417.3	transcript	ENST00000560778.3	protein_coding	1/2						chr15	TogoVar
CYFIP1_chr15_22862052_22985368	22963496	T T	TAACATAA others(42): Show TAACATAACATAACATAACATAACATAACATAACATAACATAACATAACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0014 a0002c0030t0014	a0002c0030t0014g0266 a0002c0030t0014g0266	1	342	0.0029	49	c.-6- others(66): Show c.-6-16254_-6-16206dupTGTTATGTTATGTTATGTTATGTTATGT TATGTTATGTTATGTTATGTT		CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30						chr15	TogoVar
CYP2E1_chr10_133522363_133544123	133542753	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG06807.hp2 HG02723.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0104 a0001c0002t0001g0106	2	414	0.0048	49	c.37 others(60): Show c.3789_*3790insTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCT TTCTTTCTCTTTCTT		CYP2E1	ENSG00000130649.10	transcript	ENST00000252945.8	protein_coding					3631		chr10	TogoVar

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Search Results (Total: 2057 hits)