Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CBFB_chr16_67024149_67106058	67066393	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0007 a0001c0002t0003g0007	1	212	0.0047	16	c.283 others(31): Show c.283-287_283-272dupAAAAAAAAAAAAAAAA	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBLB_chr3_105650461_105874012	105650472	T T	TAGATAGA others(9): Show TAGATAGATAGATAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0242 a0001c0002t0002g0242	1	380	0.0026	16	c.84 others(27): Show c.8497_*8498insCTCTATCTATCTATCT	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding		4988		chr3	TogoVar
CBLB_chr3_105650461_105874012	105669065	A A	AATCCATC others(9): Show AATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp2	a0001 a0002 a0001 a0002	a0001c0019 a0002c0005 a0001c0019 a0002c0005	a0001c0019t0027 a0002c0005t0020 a0001c0019t0027 a0002c0005t0020	a0001c0019t0027g0028 a0002c0005t0020g0216 a0002c0005t0020g0285 a0001c0019t0027g0028 a0002c0005t0020g0216 a0002c0005t0020g0285	3	380	0.0079	16	c.268 others(35): Show c.2689+1152_2689+1167dupGGATGGATGGATGGAT	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18			chr3	TogoVar
CBLB_chr3_105650461_105874012	105791433	T T	TTCATGAT others(9): Show TTCATGATCTAAAATAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02258.hp1 HG02451.hp2 others(5): Show HG00735.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02723.hp2 HG02976.hp1 HG03098.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0019 a0002c0005 a0001c0019 a0002c0005	a0001c0019t0027 a0002c0005t0014 a0002c0005t0020 a0001c0019t0027 a0002c0005t0014 a0002c0005t0020	a0001c0019t0027g0028 a0002c0005t0014g0002 a0002c0005t0014g0009 others(5): Show a0001c0019t0027g0028 a0002c0005t0014g0002 a0002c0005t0014g0009 a0002c0005t0014g0010 a0002c0005t0014g0011 a0002c0005t0020g0216 a0002c0005t0020g0285 a0002c0005t0020g0286	8	380	0.0211	16	c.420 others(35): Show c.420-14892_420-14891insCTATTTTAGATCATGA	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	3/18			chr3	TogoVar
CBLB_chr3_105650461_105874012	105821260	A A	ATATCTAT others(9): Show ATATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02735.hp2 HG03669.hp1 others(2): Show HG00280.hp2 HG02735.hp2 HG03669.hp1 NA18944.hp1 NA19084.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0022 a0001c0001 a0001c0002 a0009c0022	a0001c0001t0001 a0001c0001t0015 a0001c0002t0008 others(2): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0008 a0001c0002t0010 a0009c0022t0010	a0001c0001t0001g0066 a0001c0001t0015g0067 a0001c0002t0008g0295 others(2): Show a0001c0001t0001g0066 a0001c0001t0015g0067 a0001c0002t0008g0295 a0001c0002t0010g0022 a0009c0022t0010g0014	5	380	0.0132	16	c.419 others(35): Show c.419+32138_419+32153dupGATAGATAGATAGATA	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	3/18			chr3	TogoVar
CBLB_chr3_105650461_105874012	105826096	G G	GCTCCAGC others(9): Show GCTCCAGCATGACACAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(261): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0008 a0010	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0023 a0003c0006 a0004c0010 a0005c0020 a0006c0015 a0008c0021 a0010c0024	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(35): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0002t0002 a0001c0002t0012 a0001c0002t0036 a0001c0002t0044 a0001c0003t0005 a0001c0004t0002 a0001c0004t0004 a0001c0004t0037 a0001c0008t0004 a0001c0009t0004 a0001c0011t0046 a0001c0011t0047 a0001c0012t0002 a0001c0013t0001 a0001c0023t0023 a0003c0006t0001 a0004c0010t0001 a0005c0020t0006 a0006c0015t0045 a0008c0021t0002 a0010c0024t0004	a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0042 others(261): Show a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0004g0174 a0001c0001t0004g0176 a0001c0001t0004g0178 a0001c0001t0004g0189 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0215 a0001c0001t0004g0217 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0312 a0001c0001t0004g0342 a0001c0001t0006g0344 a0001c0001t0006g0345 a0001c0001t0006g0346 a0001c0001t0006g0347 a0001c0001t0006g0348 a0001c0001t0006g0349 a0001c0001t0006g0350 a0001c0001t0006g0351 a0001c0001t0006g0352 a0001c0001t0006g0353 a0001c0001t0006g0354 a0001c0001t0006g0355 a0001c0001t0006g0357 a0001c0001t0006g0358 a0001c0001t0006g0359 a0001c0001t0006g0360 a0001c0001t0006g0361 a0001c0001t0006g0362 a0001c0001t0006g0363 a0001c0001t0006g0364 a0001c0001t0006g0365 a0001c0001t0006g0366 a0001c0001t0006g0367 a0001c0001t0006g0368 a0001c0001t0006g0370 a0001c0001t0006g0371 a0001c0001t0006g0372 a0001c0001t0009g0170 a0001c0001t0009g0173 a0001c0001t0009g0182 a0001c0001t0009g0183 a0001c0001t0009g0184 a0001c0001t0009g0185 a0001c0001t0009g0186 a0001c0001t0009g0187 a0001c0001t0009g0188 a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0009g0274 a0001c0001t0009g0275 a0001c0001t0009g0276 a0001c0001t0011g0048 a0001c0001t0011g0050 a0001c0001t0011g0070 a0001c0001t0011g0086 a0001c0001t0011g0093 a0001c0001t0015g0047 a0001c0001t0015g0059 a0001c0001t0015g0067 a0001c0001t0015g0076 a0001c0001t0018g0057 a0001c0001t0018g0085 a0001c0001t0018g0097 a0001c0001t0022g0273 a0001c0001t0022g0277 a0001c0001t0023g0304 a0001c0001t0025g0001 a0001c0001t0028g0108 a0001c0001t0029g0109 a0001c0001t0038g0214 a0001c0001t0040g0256 a0001c0001t0041g0166 a0001c0001t0042g0180 a0001c0001t0043g0204 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0191 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0203 a0001c0002t0002g0211 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0278 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0012g0221 a0001c0002t0012g0222 a0001c0002t0012g0223 a0001c0002t0012g0228 a0001c0002t0012g0245 a0001c0002t0036g0233 a0001c0002t0044g0369 a0001c0003t0005g0305 a0001c0003t0005g0306 a0001c0003t0005g0307 a0001c0003t0005g0308 a0001c0003t0005g0309 a0001c0003t0005g0310 a0001c0003t0005g0311 a0001c0003t0005g0313 a0001c0003t0005g0314 a0001c0003t0005g0315 a0001c0003t0005g0316 a0001c0003t0005g0317 a0001c0003t0005g0318 a0001c0003t0005g0319 a0001c0003t0005g0320 a0001c0003t0005g0321 a0001c0003t0005g0322 a0001c0003t0005g0323 a0001c0003t0005g0324 a0001c0003t0005g0325 a0001c0003t0005g0326 a0001c0003t0005g0327 a0001c0003t0005g0328 a0001c0003t0005g0329 a0001c0003t0005g0330 a0001c0003t0005g0331 a0001c0003t0005g0332 a0001c0003t0005g0333 a0001c0003t0005g0334 a0001c0003t0005g0335 a0001c0003t0005g0336 a0001c0003t0005g0337 a0001c0003t0005g0338 a0001c0003t0005g0339 a0001c0003t0005g0340 a0001c0003t0005g0341 a0001c0004t0002g0195 a0001c0004t0002g0259 a0001c0004t0002g0260 a0001c0004t0002g0261 a0001c0004t0002g0262 a0001c0004t0002g0263 a0001c0004t0002g0264 a0001c0004t0002g0265 a0001c0004t0002g0266 a0001c0004t0004g0284 a0001c0004t0037g0165 a0001c0008t0004g0175 a0001c0008t0004g0177 a0001c0008t0004g0179 a0001c0008t0004g0181 a0001c0009t0004g0190 a0001c0009t0004g0201 a0001c0009t0004g0202 a0001c0011t0046g0379 a0001c0011t0047g0378 a0001c0012t0002g0279 a0001c0013t0001g0040 a0001c0013t0001g0041 a0001c0023t0023g0303 a0003c0006t0001g0037 a0003c0006t0001g0038 a0003c0006t0001g0039 a0003c0006t0001g0046 a0003c0006t0001g0087 a0003c0006t0001g0098 a0004c0010t0001g0074 a0004c0010t0001g0075 a0005c0020t0006g0356 a0006c0015t0045g0380 a0008c0021t0002g0227 a0010c0024t0004g0253	264	380	0.6947	16	c.419 others(35): Show c.419+27317_419+27318insTTGTGTCATGCTGGAG	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	3/18			chr3	TogoVar
CBLB_chr3_105650461_105874012	105826096	G G	GCTCCAGC others(9): Show GCTCCAGCATGACGCAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00735.hp2 others(45): Show HG00280.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01106.hp1 HG01167.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01361.hp2 HG01884.hp1 HG01993.hp2 HG02004.hp1 HG02080.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02723.hp2 HG02735.hp2 HG02896.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 NA18951.hp2 NA18960.hp2 NA18967.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA19004.hp1 NA19012.hp2 NA19062.hp1 NA19066.hp2 NA19083.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0002 a0001c0019 a0002c0005 others(1): Show a0001c0002 a0001c0019 a0002c0005 a0009c0022	a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 others(6): Show a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0017 a0001c0002t0026 a0001c0019t0027 a0002c0005t0014 a0002c0005t0020 a0009c0022t0010	a0001c0002t0007g0004 a0001c0002t0007g0007 a0001c0002t0007g0008 others(45): Show a0001c0002t0007g0004 a0001c0002t0007g0007 a0001c0002t0007g0008 a0001c0002t0007g0012 a0001c0002t0007g0013 a0001c0002t0007g0016 a0001c0002t0007g0017 a0001c0002t0007g0018 a0001c0002t0007g0019 a0001c0002t0007g0020 a0001c0002t0007g0023 a0001c0002t0007g0024 a0001c0002t0007g0025 a0001c0002t0007g0029 a0001c0002t0007g0030 a0001c0002t0007g0031 a0001c0002t0007g0036 a0001c0002t0008g0287 a0001c0002t0008g0288 a0001c0002t0008g0289 a0001c0002t0008g0290 a0001c0002t0008g0291 a0001c0002t0008g0292 a0001c0002t0008g0293 a0001c0002t0008g0294 a0001c0002t0008g0295 a0001c0002t0008g0296 a0001c0002t0008g0297 a0001c0002t0008g0298 a0001c0002t0008g0299 a0001c0002t0008g0300 a0001c0002t0010g0005 a0001c0002t0010g0006 a0001c0002t0010g0015 a0001c0002t0010g0022 a0001c0002t0010g0026 a0001c0002t0010g0027 a0001c0002t0017g0033 a0001c0002t0017g0034 a0001c0002t0017g0035 a0001c0002t0026g0021 a0001c0019t0027g0028 a0002c0005t0014g0002 a0002c0005t0014g0009 a0002c0005t0014g0010 a0002c0005t0014g0011 a0002c0005t0020g0286 a0009c0022t0010g0014	48	380	0.1263	16	c.419 others(35): Show c.419+27317_419+27318insTTGCGTCATGCTGGAG	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	3/18			chr3	TogoVar
CBLB_chr3_105650461_105874012	105826102	G G	GCATGACA others(9): Show GCATGACACAACTCCAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03209.hp2 NA19043.hp2 HG02717.hp1 HG03209.hp2 NA19043.hp2	a0001 a0007 a0001 a0007	a0001c0014 a0007c0018 a0001c0014 a0007c0018	a0001c0014t0021 a0007c0018t0002 a0001c0014t0021 a0007c0018t0002	a0001c0014t0021g0301 a0001c0014t0021g0302 a0007c0018t0002g0343 a0001c0014t0021g0301 a0001c0014t0021g0302 a0007c0018t0002g0343	3	380	0.0079	16	c.419 others(35): Show c.419+27311_419+27312insGTGGAGTTGTGTCATG	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	3/18			chr3	TogoVar
CBLB_chr3_105650461_105874012	105873380	G G	GCACACAC others(9): Show GCACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0021 a0001c0014t0021	a0001c0014t0021g0302 a0001c0014t0021g0302	1	380	0.0026	16	c.-46 others(27): Show c.-4660_-4659insTGTGTGTGTGTGTGTG	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding		4369		chr3	TogoVar
CBLIF_chr11_59824273_59850499	59827460	G G	GACACACA others(9): Show GACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01928.hp1 HG01952.hp1 others(5): Show HG00733.hp1 HG01928.hp1 HG01952.hp1 HG02280.hp2 HG03139.hp2 NA18961.hp1 NA18967.hp1 NA19078.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0086 others(5): Show a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0086 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234	8	342	0.0234	16	c.20 others(27): Show c.2023_*2024insGTGTGTGTGTGTGTGT	CBLIF	ENSG00000134812.8	transcript	ENST00000257248.3	protein_coding		1812		chr11	TogoVar
CBLIF_chr11_59824273_59850499	59827486	C C	CACACACA others(9): Show CACACACACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG03225.hp2 HG03453.hp2 others(1): Show HG02559.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0059 a0002c0002t0001g0223 a0002c0002t0001g0235 others(1): Show a0001c0001t0001g0059 a0002c0002t0001g0223 a0002c0002t0001g0235 a0002c0002t0001g0238	4	342	0.0117	16	c.19 others(27): Show c.1997_*1998insATGTGTGTGTGTGTGT	CBLIF	ENSG00000134812.8	transcript	ENST00000257248.3	protein_coding		1786		chr11	TogoVar
CBLIF_chr11_59824273_59850499	59834307	T T	TCTTCCTT others(9): Show TCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	342	0.0029	16	c.107 others(35): Show c.1073+1500_1073+1501insGAAGGAAGGAAGGAAG	CBLIF	ENSG00000134812.8	transcript	ENST00000257248.3	protein_coding	7/8			chr11	TogoVar
CBLIF_chr11_59824273_59850499	59834311	T T	TCTTCCTT others(9): Show TCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18960.hp2 NA18966.hp1 others(1): Show NA18939.hp1 NA18960.hp2 NA18966.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0141 a0002c0002t0001g0046 a0002c0002t0001g0228 a0001c0001t0001g0141 a0002c0002t0001g0046 a0002c0002t0001g0228	4	342	0.0117	16	c.107 others(35): Show c.1073+1481_1073+1496dupGAAGGAAGGAAGGAAG	CBLIF	ENSG00000134812.8	transcript	ENST00000257248.3	protein_coding	7/8			chr11	TogoVar
CBLIF_chr11_59824273_59850499	59834311	T T	TCTTTCTT others(9): Show TCTTTCTTTCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	342	0.0029	16	c.107 others(35): Show c.1073+1496_1073+1497insGAAGGAAGAAAGAAAG	CBLIF	ENSG00000134812.8	transcript	ENST00000257248.3	protein_coding	7/8			chr11	TogoVar
CBLIF_chr11_59824273_59850499	59834311	T T	TCTTTCTT others(9): Show TCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	342	0.0029	16	c.107 others(35): Show c.1073+1496_1073+1497insGAAGAAAGAAAGAAAG	CBLIF	ENSG00000134812.8	transcript	ENST00000257248.3	protein_coding	7/8			chr11	TogoVar
CBLL2_chrX_22267913_22279461	22271960	G G	GGTTTTTT others(9): Show GGTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG03834.hp2 HG01975.hp2 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0001c0001t0001g0000 a0002c0002t0001g0000	2	346	0.0058	16	c.-10 others(27): Show c.-1032_-1031insGTTTTTTTTTTTTTTT	CBLL2	ENSG00000175809.6	transcript	ENST00000323684.4	protein_coding		952		chrX	TogoVar
CBLN4_chr20_55992357_56010519	56010246	G G	GTCTCTCT others(9): Show GTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	426	0.0024	16	c.-60 others(27): Show c.-6076_-6075insGAGAGAGAGAGAGAGA	CBLN4	ENSG00000054803.4	transcript	ENST00000064571.3	protein_coding		4728		chr20	TogoVar
CBL_chr11_119201339_119313149	119236595	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	364	0.0028	16	c.443 others(33): Show c.443+3913_443+3928dupTATATATATATATATA	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119244581	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02965.hp2 HG03486.hp2 HG01123.hp2 HG02965.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0037 a0001c0001t0001 a0001c0001t0037	a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0037g0018 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0037g0018	3	364	0.0082	16	c.443 others(35): Show c.443+11889_443+11904dupTTTTTTTTTTTTTTTT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119264442	T T	TCTTCTCT others(9): Show TCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	364	0.0028	16	c.444 others(33): Show c.444-7293_444-7292insCTTCTCTTCTCTTCTC	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15			chr11	TogoVar
CBL_chr11_119201339_119313149	119277239	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01071.hp2 others(6): Show HG01069.hp1 HG01071.hp1 HG01071.hp2 HG02055.hp2 HG02630.hp1 HG03098.hp1 HG03453.hp1 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0019 a0001c0001t0058 others(1): Show a0001c0001t0002 a0001c0001t0019 a0001c0001t0058 a0001c0007t0002	a0001c0001t0002g0254 a0001c0001t0002g0261 a0001c0001t0002g0262 others(6): Show a0001c0001t0002g0254 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0267 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0019g0028 a0001c0001t0058g0015 a0001c0007t0002g0327	9	364	0.0247	16	c.100 others(33): Show c.1008-517_1008-516insACACACACACACACAC	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119277241	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02886.hp1 HG01109.hp1 HG02886.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0002 a0008c0008t0005 a0001c0001t0002 a0008c0008t0005	a0001c0001t0002g0318 a0008c0008t0005g0243 a0001c0001t0002g0318 a0008c0008t0005g0243	2	364	0.0055	16	c.100 others(33): Show c.1008-501_1008-486dupCACACACACACACACA	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBR3_chr21_36130079_36151562	36142431	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG01243.hp1 others(26): Show HG00621.hp2 HG00639.hp2 HG01243.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02080.hp2 HG02132.hp1 HG02280.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp2 NA18941.hp1 NA18944.hp2 NA19030.hp1 NA19030.hp2 NA19059.hp2 NA19083.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0004c0007 a0002c0002 a0004c0006 a0004c0007	a0002c0002t0001 a0004c0006t0001 a0004c0007t0001 a0002c0002t0001 a0004c0006t0001 a0004c0007t0001	a0002c0002t0001g0018 a0002c0002t0001g0074 a0002c0002t0001g0091 others(22): Show a0002c0002t0001g0018 a0002c0002t0001g0074 a0002c0002t0001g0091 a0002c0002t0001g0104 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0131 a0002c0002t0001g0136 a0002c0002t0001g0143 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0301 a0004c0006t0001g0019 a0004c0006t0001g0138 a0004c0006t0001g0139 a0004c0006t0001g0144 a0004c0006t0001g0148 a0004c0006t0001g0153 a0004c0007t0001g0124 a0004c0007t0001g0125 a0004c0007t0001g0147 a0004c0007t0001g0150	29	424	0.0684	16	c.398 others(33): Show c.398-3643_398-3628dupAAAAAAAAAAAAAAAA	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr21	TogoVar
CBR3_chr21_36130079_36151562	36142435	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	424	0.0024	16	c.398 others(33): Show c.398-3628_398-3627insAACAAAAAAAAAAAAA	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr21	TogoVar
CBR3_chr21_36130079_36151562	36146917	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0128 a0002c0002t0001g0128	1	424	0.0024	16	c.40 others(25): Show c.405_*406insTTTTTTTTTTTTTTTT	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding		356		chr21	TogoVar
CBX1_chr17_48065059_48106478	48073824	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19080.hp1 HG03471.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0104 a0001c0001t0002g0095 a0001c0001t0002g0104	2	396	0.0051	16	c.413 others(33): Show c.413+1166_413+1181dupTTTTTTTTTTTTTTTT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	4/4			chr17	TogoVar
CBX1_chr17_48065059_48106478	48080951	A A	AAAAAAAA others(9): Show AAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	396	0.0025	16	c.-37 others(33): Show c.-37-3911_-37-3910insATATATATATTTTTTT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX1_chr17_48065059_48106478	48101948	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG04115.hp1 HG03098.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0290 a0001c0001t0004g0343 a0001c0001t0001g0290 a0001c0001t0004g0343	2	396	0.0051	16	c.-71 others(25): Show c.-719_-718insTTTTTTTTTTTTTTTT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding		471		chr17	TogoVar
CBY3_chr5_179673560_179686034	179676225	T T	TACACACA others(9): Show TACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	16	c.23 others(27): Show c.2357_*2358insGTGTGTGTGTGTGTGT	CBY3	ENSG00000204659.5	transcript	ENST00000376974.5	protein_coding		2334		chr5	TogoVar
CC2D2A_chr4_15464882_15606552	15500099	G G	GTATACAT others(9): Show GTATACATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	344	0.0029	16	c.248 others(33): Show c.248-2329_248-2328insATACATATATATATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15500099	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	344	0.0029	16	c.248 others(33): Show c.248-2329_248-2328insATATATATATATATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15500101	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	344	0.0029	16	c.248 others(33): Show c.248-2327_248-2326insATATATATATATATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15500107	G G	GTGTGTGT others(9): Show GTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0294 a0001c0006t0001g0294	1	344	0.0029	16	c.248 others(33): Show c.248-2321_248-2320insGTGTGTATATATATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15500107	G G	GTGTGTGT others(9): Show GTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	344	0.0029	16	c.248 others(33): Show c.248-2321_248-2320insGTGTGTGTATATATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15500107	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA20752.hp1 HG01515.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0102 a0001c0001t0002g0103 a0001c0001t0001g0102 a0001c0001t0002g0103	2	344	0.0058	16	c.248 others(33): Show c.248-2321_248-2320insGTGTGTGTGTATATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15559667	C C	CTGTTTCC others(9): Show CTGTTTCCTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03195.hp1 HG02647.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0002 a0001c0024t0002 a0001c0001t0002 a0001c0024t0002	a0001c0001t0002g0016 a0001c0024t0002g0098 a0001c0001t0002g0016 a0001c0024t0002g0098	2	344	0.0058	16	c.292 others(33): Show c.2922+411_2922+412insGTTTCCTTCTTTTTTT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	22/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15559669	T T	TTTTCCTT others(9): Show TTTTCCTTCTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00741.hp1 others(56): Show HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01169.hp1 HG01433.hp2 HG01891.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18906.hp2 NA18945.hp2 NA18959.hp2 NA18980.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA19003.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0010 others(3): Show a0001 a0002 a0010 a0011 a0015 a0016	a0001c0001 a0001c0006 a0001c0015 others(6): Show a0001c0001 a0001c0006 a0001c0015 a0002c0003 a0002c0005 a0010c0025 a0011c0023 a0015c0031 a0016c0019	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0015t0001 a0002c0003t0001 a0002c0005t0001 a0010c0025t0002 a0011c0023t0002 a0015c0031t0001 a0016c0019t0001	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 others(56): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0250 a0001c0001t0001g0297 a0001c0001t0001g0324 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0022 a0001c0001t0002g0151 a0001c0001t0002g0242 a0001c0001t0002g0266 a0001c0001t0002g0272 a0001c0001t0002g0280 a0001c0001t0002g0291 a0001c0001t0002g0301 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0323 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0006t0001g0294 a0001c0015t0001g0074 a0002c0003t0001g0221 a0002c0003t0001g0304 a0002c0003t0001g0313 a0002c0005t0001g0031 a0002c0005t0001g0036 a0010c0025t0002g0019 a0011c0023t0002g0021 a0015c0031t0001g0316 a0016c0019t0001g0189	59	344	0.1715	16	c.292 others(33): Show c.2922+423_2922+424insTTTTGTTTCCTTCTTT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	22/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2B_chr10_95902975_96038745	95926840	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01884.hp1 HG02922.hp2 others(2): Show HG00099.hp2 HG01884.hp1 HG02922.hp2 HG03486.hp1 NA20300.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0009 a0002c0002 a0007c0009	a0002c0002t0001 a0002c0002t0002 a0007c0009t0001 a0002c0002t0001 a0002c0002t0002 a0007c0009t0001	a0002c0002t0001g0016 a0002c0002t0001g0026 a0002c0002t0001g0027 others(2): Show a0002c0002t0001g0016 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0002g0025 a0007c0009t0001g0024	5	312	0.0160	16	c.241 others(31): Show c.241-390_241-389insGTGTGTGTCTGTGTGT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	5/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95947078	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0134 a0005c0006t0001g0134	1	312	0.0032	16	c.802 others(33): Show c.802-2813_802-2812insAAAAAAAAAAAAAAAA	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	9/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95947082	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0194 a0002c0002t0001g0194	1	312	0.0032	16	c.802 others(33): Show c.802-2797_802-2782dupATATATATATATATAT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	9/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	96003586	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0172 a0004c0004t0001g0172	1	312	0.0032	16	c.285 others(33): Show c.2850-538_2850-523dupGTGTGTGTGTGTGTGT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	24/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	96025166	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0020 a0020	a0020c0031 a0020c0031	a0020c0031t0001 a0020c0031t0001	a0020c0031t0001g0123 a0020c0031t0001g0123	1	312	0.0032	16	c.394 others(33): Show c.3947+256_3947+257insAAAAAAAAAAAAAAAA	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	33/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCAR1_chr10_68716239_68797377	68752883	A A	AATAGATA others(9): Show AATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	360	0.0028	16	c.111 others(33): Show c.1119-926_1119-911dupAGATAGATAGATAGAT	CCAR1	ENSG00000060339.14	transcript	ENST00000265872.11	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCAR2_chr8_22599757_22625471	22611388	A A	ATATGTGT others(9): Show ATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02056.hp2 HG02738.hp1 others(11): Show HG00639.hp1 HG02056.hp2 HG02738.hp1 NA18955.hp2 NA18956.hp2 NA18974.hp2 NA18986.hp2 NA18987.hp1 NA18993.hp2 NA18998.hp2 NA19002.hp1 NA19010.hp2 NA19060.hp2 NA19078.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0002 a0001c0002t0009 a0002c0005t0007 others(1): Show a0001c0002t0002 a0001c0002t0009 a0002c0005t0007 a0002c0005t0017	a0001c0002t0002g0048 a0001c0002t0002g0078 a0001c0002t0009g0050 others(7): Show a0001c0002t0002g0048 a0001c0002t0002g0078 a0001c0002t0009g0050 a0002c0005t0007g0010 a0002c0005t0007g0016 a0002c0005t0007g0026 a0002c0005t0007g0096 a0002c0005t0007g0221 a0002c0005t0017g0010 a0002c0005t0017g0026	14	376	0.0372	16	c.585 others(33): Show c.585-1628_585-1627insATGTGTGTGTGTGTGT	CCAR2	ENSG00000158941.17	transcript	ENST00000308511.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCAR2_chr8_22599757_22625471	22611388	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG03688.hp2 others(4): Show HG02055.hp2 HG02257.hp2 HG03688.hp2 HG06807.hp2 NA18968.hp1 NA18979.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0005 a0001c0002t0002 a0001c0004t0005	a0001c0002t0002g0024 a0001c0002t0002g0059 a0001c0002t0002g0060 others(3): Show a0001c0002t0002g0024 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0004t0005g0083 a0001c0004t0005g0084	7	376	0.0186	16	c.585 others(33): Show c.585-1627_585-1612dupGTGTGTGTGTGTGTGT	CCAR2	ENSG00000158941.17	transcript	ENST00000308511.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCAR2_chr8_22599757_22625471	22611410	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp1 HG02970.hp2 HG02451.hp1 HG02922.hp1 HG02970.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0011 a0001c0008t0011	a0001c0008t0011g0029 a0001c0008t0011g0099 a0001c0008t0011g0029 a0001c0008t0011g0099	3	376	0.0080	16	c.585 others(33): Show c.585-1602_585-1601insGTGTGTGTGTATGTGT	CCAR2	ENSG00000158941.17	transcript	ENST00000308511.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCBE1_chr18_59425939_59702423	59460936	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02129.hp1 HG02273.hp2 others(4): Show HG01928.hp2 HG02129.hp1 HG02273.hp2 HG03471.hp2 HG04115.hp1 NA19010.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0001t0020 a0001c0001t0048	a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0234 others(4): Show a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0234 a0001c0001t0005g0124 a0001c0001t0015g0210 a0001c0001t0020g0052 a0001c0001t0048g0145	7	242	0.0289	16	c.553 others(33): Show c.553+5787_553+5802dupATTTATTTATTTATTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	5/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59477538	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18981.hp1 NA19058.hp2 HG00621.hp1 NA18981.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0067 a0001c0001t0001g0132 a0001c0001t0001g0018 a0001c0001t0001g0067 a0001c0001t0001g0132	3	242	0.0124	16	c.265 others(33): Show c.265+2632_265+2647dupCACACACACACACACA	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59485584	A A	ATATTTAT others(9): Show ATATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG04204.hp1 HG03139.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0039 a0001c0003t0062 a0001c0001t0039 a0001c0003t0062	a0001c0001t0039g0160 a0001c0003t0062g0156 a0001c0001t0039g0160 a0001c0003t0062g0156	2	242	0.0083	16	c.213 others(33): Show c.213-5362_213-5347dupAATAAATAAATAAATA	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59491827	C C	CAAACAAA others(9): Show CAAACAAACAAACAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00733.hp2 others(65): Show HG00099.hp2 HG00280.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01496.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02129.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03710.hp2 HG03942.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18981.hp2 NA18984.hp1 NA19012.hp2 NA19043.hp2 NA19070.hp2 NA19083.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0057 a0001c0001t0059 a0001c0001t0064 a0001c0001t0065 a0001c0003t0001 a0001c0003t0062 a0002c0002t0011 a0004c0005t0025	a0001c0001t0001g0072 a0001c0001t0001g0105 a0001c0001t0001g0107 others(65): Show a0001c0001t0001g0072 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0131 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0002g0061 a0001c0001t0002g0084 a0001c0001t0002g0116 a0001c0001t0002g0204 a0001c0001t0002g0213 a0001c0001t0002g0225 a0001c0001t0002g0230 a0001c0001t0003g0014 a0001c0001t0003g0036 a0001c0001t0003g0040 a0001c0001t0003g0149 a0001c0001t0003g0158 a0001c0001t0003g0218 a0001c0001t0003g0236 a0001c0001t0004g0095 a0001c0001t0004g0108 a0001c0001t0004g0121 a0001c0001t0004g0137 a0001c0001t0005g0179 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0129 a0001c0001t0006g0130 a0001c0001t0006g0136 a0001c0001t0006g0172 a0001c0001t0007g0228 a0001c0001t0008g0203 a0001c0001t0009g0150 a0001c0001t0009g0164 a0001c0001t0010g0010 a0001c0001t0011g0087 a0001c0001t0011g0229 a0001c0001t0012g0190 a0001c0001t0012g0191 a0001c0001t0013g0215 a0001c0001t0013g0227 a0001c0001t0015g0240 a0001c0001t0017g0146 a0001c0001t0017g0163 a0001c0001t0019g0062 a0001c0001t0026g0148 a0001c0001t0028g0011 a0001c0001t0029g0182 a0001c0001t0033g0080 a0001c0001t0034g0128 a0001c0001t0035g0235 a0001c0001t0036g0155 a0001c0001t0039g0160 a0001c0001t0040g0237 a0001c0001t0044g0117 a0001c0001t0045g0133 a0001c0001t0048g0145 a0001c0001t0057g0152 a0001c0001t0059g0035 a0001c0001t0064g0071 a0001c0001t0065g0200 a0001c0003t0001g0157 a0001c0003t0062g0156 a0002c0002t0011g0002 a0004c0005t0025g0034	68	242	0.2810	16	c.213 others(35): Show c.213-11590_213-11589insATTTGTTTGTTTGTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)