Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CD81_chr11_2372310_2402397	2384499	G G	GTGGGGGA others(36): Show GTGGGGGAGGGGCTGCGGGGGGGTGGGGCGGAGCGGGCGGCGGC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	388	0.0026	43	c.67- others(58): Show c.67-5908_67-5907insGAGGGGCTGCGGGGGGGTGGGGCGGAGCGG GCGGCGGCTGGGG	CD81	ENSG00000110651.13	transcript	ENST00000263645.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
CD96_chr3_111537197_111657372	111616229	T T	TCCCCCCC others(36): Show TCCCCCCCTCGACTCCCCCCCCCCCCCCCCACTGCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0133 a0001c0001t0018g0133	1	300	0.0033	43	c.118 others(62): Show c.1181-7525_1181-7524insCCCCCCCTCGACTCCCCCCCCCCCCC CCCACTGCCCCCCCCCC	CD96	ENSG00000153283.13	transcript	ENST00000352690.9	protein_coding	8/13			chr3	TogoVar
CDC34_chr19_526760_547087	534499	C C	CCCCCGAG others(36): Show CCCCCGAGTGCCCTCCCTGTCAAGGCCTCGCCCACGATCCAAGA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	328	0.0031	43	c.178 others(60): Show c.178-1334_178-1333insGAGTGCCCTCCCTGTCAAGGCCTCGCCC ACGATCCAAGACCCC	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDC34_chr19_526760_547087	534852	C C	CCCCCGAG others(36): Show CCCCCGAGTGCCCGCCCTGTCCAGACCTCGCCCACAATCCAAGA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02976.hp1 NA18963.hp1 HG01169.hp2 HG02976.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0003g0110 a0001c0001t0001g0002 a0001c0001t0003g0110	3	328	0.0092	43	c.178 others(58): Show c.178-981_178-980insGAGTGCCCGCCCTGTCCAGACCTCGCCCAC AATCCAAGACCCC	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDC34_chr19_526760_547087	534852	C C	CCCCCGAG others(36): Show CCCCCGAGTGCCCGCCCTGTCCAGACCTCGCCCACGATCCAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01975.hp1 others(25): Show HG00140.hp1 HG00738.hp2 HG01975.hp1 HG02129.hp1 HG02300.hp2 HG02486.hp1 HG02717.hp1 HG02897.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 NA18522.hp1 NA18963.hp2 NA18969.hp2 NA18978.hp2 NA18979.hp1 NA18990.hp1 NA19000.hp1 NA19009.hp2 NA19043.hp2 NA19067.hp1 NA19080.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0006 a0001c0001t0001 a0001c0002t0003 a0001c0002t0006	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(16): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0002t0003g0005 a0001c0002t0003g0026 a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0006g0016 a0001c0002t0006g0079 a0001c0002t0006g0080	28	328	0.0854	43	c.178 others(58): Show c.178-981_178-980insGAGTGCCCGCCCTGTCCAGACCTCGCCCAC GATCCAAGACCCC	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDC34_chr19_526760_547087	534897	C C	CCCCCGAG others(36): Show CCCCCGAGTGCCCGCCCTGTCCAGACCTCGCCCACGATCCAAGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp1 HG02723.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	328	0.0061	43	c.178 others(58): Show c.178-936_178-935insGAGTGCCCGCCCTGTCCAGACCTCGCCCAC GATCCAAGACCCC	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDC40_chr6_110175427_110237232	110233130	A A	AAACTGAT others(36): Show AAACTGATTCCATGTATCATCACAGATGCATATTTTTCACATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	330	0.0030	43	c.29 others(54): Show c.2999_*3000insAACTGATTCCATGTATCATCACAGATGCATATTT TTCACATTT	CDC40	ENSG00000168438.15	transcript	ENST00000307731.2	protein_coding		899		chr6	TogoVar
CDC73_chr1_193117031_193259815	193234267	T T	TTATAATA others(36): Show TTATAATATATATAATTTATTATATATATAATATATATAATATA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0218 a0001c0001t0008g0218	1	274	0.0037	43	c.131 others(62): Show c.1316+1128_1316+1129insTTATTATATATATAATATATATAATA TATATAATATATATAAT	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC73_chr1_193117031_193259815	193234267	T T	TTATAATA others(36): Show TTATAATATATATAATTTATTATATATATTATATATATAATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00544.hp2 others(114): Show HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02135.hp2 HG02165.hp1 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp1 HG04199.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18962.hp2 NA18965.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18980.hp1 NA18983.hp1 NA18986.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0002t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 others(114): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0002g0105 a0001c0001t0003g0192 a0001c0001t0004g0233 a0001c0001t0004g0268 a0001c0001t0006g0170 a0001c0001t0009g0210 a0001c0001t0010g0190 a0001c0001t0011g0176 a0001c0001t0016g0244 a0001c0002t0001g0154 a0001c0002t0001g0155	117	274	0.4270	43	c.131 others(62): Show c.1316+1128_1316+1129insTTATTATATATATTATATATATAATA TATATAATATATATAAT	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC73_chr1_193117031_193259815	193234267	T T	TTATAATA others(36): Show TTATAATATATATAATTTATTATATATATTATATATATTATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18949.hp2 HG00597.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0174 a0001c0001t0018g0173 a0001c0001t0001g0174 a0001c0001t0018g0173	2	274	0.0073	43	c.131 others(62): Show c.1316+1128_1316+1129insTTATTATATATATTATATATATTATA TATATAATATATATAAT	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC73_chr1_193117031_193259815	193234277	T T	TATAATTT others(36): Show TATAATTTATTATATATATTATATATATAATATATATAATATAC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19011.hp1 NA18952.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0253 a0001c0001t0001g0254	2	274	0.0073	43	c.131 others(62): Show c.1316+1128_1316+1129insTTATTATATATATTATATATATAATA TATATAATATACATAAT	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDCA7_chr2_173349872_173373997	173372025	G G	GATTTTTA others(36): Show GATTTTTAAAATGTAAACATTATATATATATATATATATAACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG02257.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0036 a0001c0001t0011g0036	2	460	0.0044	43	c.43 others(54): Show c.4361_*4362insATTTTTAAAATGTAAACATTATATATATATATAT ATATAACTT	CDCA7	ENSG00000144354.15	transcript	ENST00000306721.8	protein_coding		3029		chr2	TogoVar
CDH13_chr16_82621969_83805640	83658326	A A	AAGGTCCC others(36): Show AAGGTCCCATATGCTCACCAGCAAGGTCTCATGTCCTCGCCACC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00639.hp2 others(40): Show HG00323.hp2 HG00438.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01099.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01884.hp2 HG02027.hp1 HG02027.hp2 HG02257.hp2 HG02258.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02896.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03942.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp2 NA19240.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0033 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0017 a0001c0002t0020 a0001c0002t0021 a0001c0003t0004 a0001c0003t0043 a0001c0004t0003 a0001c0004t0030 a0001c0006t0031 a0004c0013t0044	a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0104 others(40): Show a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0104 a0001c0001t0002g0028 a0001c0001t0002g0046 a0001c0001t0003g0035 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0005g0054 a0001c0001t0007g0063 a0001c0001t0018g0072 a0001c0001t0023g0021 a0001c0001t0024g0018 a0001c0001t0026g0070 a0001c0001t0028g0038 a0001c0001t0033g0049 a0001c0002t0001g0012 a0001c0002t0001g0025 a0001c0002t0001g0084 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0002g0032 a0001c0002t0006g0034 a0001c0002t0006g0037 a0001c0002t0007g0100 a0001c0002t0010g0036 a0001c0002t0010g0064 a0001c0002t0012g0044 a0001c0002t0012g0105 a0001c0002t0013g0092 a0001c0002t0014g0109 a0001c0002t0017g0014 a0001c0002t0020g0099 a0001c0002t0021g0008 a0001c0003t0004g0003 a0001c0003t0004g0093 a0001c0003t0004g0110 a0001c0003t0043g0094 a0001c0004t0003g0020 a0001c0004t0003g0058 a0001c0004t0030g0102 a0001c0006t0031g0005 a0004c0013t0044g0001	43	110	0.3909	43	c.110 others(64): Show c.1102-12453_1102-12452insGCTCACCAGCAAGGTCTCATGTCC TCGCCACCAGGTCCCATAT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83658442	A A	ATATCCTC others(36): Show ATATCCTCACCAGCAAGGTCCCATGTCCTCACCACCAGGTCCTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp1 HG02027.hp1 others(11): Show HG00438.hp1 HG00738.hp1 HG02027.hp1 HG02027.hp2 HG02698.hp1 HG02896.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03491.hp1 HG03669.hp2 NA18522.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 a0001c0001t0023 a0001c0002t0001 a0001c0002t0002 a0001c0002t0020 a0001c0003t0004 a0001c0004t0030 a0001c0006t0031	a0001c0001t0001g0029 a0001c0001t0001g0104 a0001c0001t0005g0054 others(11): Show a0001c0001t0001g0029 a0001c0001t0001g0104 a0001c0001t0005g0054 a0001c0001t0018g0072 a0001c0001t0023g0021 a0001c0002t0001g0012 a0001c0002t0001g0025 a0001c0002t0001g0098 a0001c0002t0002g0032 a0001c0002t0020g0099 a0001c0003t0004g0003 a0001c0003t0004g0110 a0001c0004t0030g0102 a0001c0006t0031g0005	14	110	0.1273	43	c.110 others(64): Show c.1102-12307_1102-12306insTGTATCCTCACCAGCAAGGTCCCA TGTCCTCACCACCAGGTCC	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83658916	A A	ATATCCTC others(36): Show ATATCCTCACCAGCAAGGTCCCATGTCCTCACCACCAGGTCCCG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03540.hp2 HG02630.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0013 a0001c0011t0035 a0001c0001t0013 a0001c0011t0035	a0001c0001t0013g0006 a0001c0011t0035g0074 a0001c0001t0013g0006 a0001c0011t0035g0074	2	110	0.0182	43	c.110 others(64): Show c.1102-11831_1102-11789dupGTATCCTCACCAGCAAGGTCCCAT GTCCTCACCACCAGGTCCC	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH1_chr16_68732292_68840537	68745557	T T	TATATATA others(36): Show TATATATATGTATATATATATATGTATATATATATGTATGTGTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01928.hp1 HG03239.hp2 others(3): Show HG01074.hp1 HG01928.hp1 HG03239.hp2 NA18967.hp2 NA19057.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0014 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0014 a0001c0003t0003	a0001c0001t0001g0207 a0001c0002t0001g0195 a0001c0002t0001g0231 others(3): Show a0001c0001t0001g0207 a0001c0002t0001g0195 a0001c0002t0001g0231 a0001c0002t0001g0275 a0001c0002t0014g0216 a0001c0003t0003g0175	6	316	0.0190	43	c.163 others(60): Show c.163+7152_163+7153insATGTATATATATATATGTATATATATAT GTATGTGTAATATAT	CDH1	ENSG00000039068.20	transcript	ENST00000261769.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH1_chr16_68732292_68840537	68745566	A A	ATATATAT others(36): Show ATATATATATATATGTATATATATATGTATGTGTAATATATGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02896.hp2 others(1): Show HG01109.hp1 HG01884.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0242 a0001c0002t0001g0101 a0001c0002t0001g0102 others(1): Show a0001c0001t0002g0242 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103	4	316	0.0127	43	c.163 others(60): Show c.163+7164_163+7165insATATGTATATATATATGTATGTGTAATA TATGTGTATATATAT	CDH1	ENSG00000039068.20	transcript	ENST00000261769.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH22_chr20_46168739_46313498	46181752	C C	CTTCCTTC others(36): Show CTTCCTTCCTTCCTTCCTTCTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	318	0.0031	43	c.166 others(62): Show c.1664-3556_1664-3555insAGAAAGAAAGAAAGAAAGAAAGAAGA AGGAAGGAAGGAAGGAA	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	10/11			chr20	TogoVar
CDH4_chr20_61247261_61945617	61565225	T T	TGGTGGTG others(36): Show TGGTGGTGGTGGTGGTGGTGGTGGTGGCGGTGCTCTCGGTGGTA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0024 a0002c0005t0024	a0002c0005t0024g0048 a0002c0005t0024g0048	1	106	0.0094	43	c.170 others(64): Show c.170-178321_170-178320insTGGTGGTGGCGGTGCTCTCGGTGG TAGGTGGTGGTGGTGGTGG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDIP1_chr16_4505669_4543773	4539670	C C	CTGAGACT others(36): Show CTGAGACTCCATCTCAAAAAAAGAAAGAAAGAAAGAAATTACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	323	0.0031	43	c.-10 others(54): Show c.-1074_-1073insCCGTAATTTCTTTCTTTCTTTCTTTTTTTGAGAT GGAGTCTCA	CDIP1	ENSG00000089486.17	transcript	ENST00000567695.6	protein_coding		898		chr16	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(36): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02129.hp2 HG03834.hp1 others(1): Show HG01261.hp2 HG02129.hp2 HG03834.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0059 a0001c0001t0002g0017 a0001c0001t0001g0059 a0001c0001t0002g0017	4	416	0.0096	43	c.151 others(58): Show c.151-368_151-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(36): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02129.hp2 HG03834.hp1 others(1): Show HG01261.hp2 HG02129.hp2 HG03834.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0195 a0001c0001t0002g0290 a0001c0001t0002g0304 others(1): Show a0001c0001t0001g0195 a0001c0001t0002g0290 a0001c0001t0002g0304 a0001c0001t0002g0315	4	404	0.0099	43	c.194 others(58): Show c.194-368_194-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CEACAM20_chr19_44501159_44534675	44528158	T T	TTTCCTTT others(36): Show TTTCCTTTCTTTCTTTCCTTTCTTTCTTTCCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0035 a0035	a0035c0046 a0035c0046	a0035c0046t0001 a0035c0046t0001	a0035c0046t0001g0224 a0035c0046t0001g0224	1	438	0.0023	43	c.52+ others(58): Show c.52+1299_52+1300insGGAAAGAAAGAAAGGAAAGAAAGAAAGGAA AGAAAGAAAGGAA	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	1/11			chr19	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0166 a0001c0008t0003g0166	1	194	0.0052	43	c.272 others(62): Show c.272-20398_272-20397insGAAAGAAAGAAAGAAAGAAAGAAGGA AAGAAGGAAAGAAAGAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAGGAAGG others(36): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG00735.hp1 others(10): Show HG00140.hp1 HG00621.hp1 HG00735.hp1 HG02055.hp1 HG02109.hp2 HG02559.hp2 HG02622.hp1 HG02647.hp1 HG02735.hp2 HG03041.hp1 HG03540.hp1 HG03831.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0021 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0009 a0001c0004t0040	a0001c0001t0001g0123 a0001c0001t0006g0117 a0001c0001t0010g0015 others(10): Show a0001c0001t0001g0123 a0001c0001t0006g0117 a0001c0001t0010g0015 a0001c0001t0021g0089 a0001c0001t0028g0192 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0002g0061 a0001c0002t0002g0103 a0001c0002t0003g0048 a0001c0002t0007g0058 a0001c0002t0009g0057 a0001c0004t0040g0141	13	194	0.0670	43	c.272 others(62): Show c.272-20399_272-20398insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGAAAGA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11197058	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0052 a0001c0002t0002g0052	1	194	0.0052	43	c.272 others(62): Show c.272-20365_272-20364insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CENPH_chr5_69184583_69215357	69204051	T T	TAATTTCT others(36): Show TAATTTCTATATATATTATATATAGAATATATATATATAGAATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp2 HG00733.hp1 others(64): Show HG00609.hp1 HG00642.hp2 HG00733.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01928.hp2 HG01943.hp2 HG02004.hp2 HG02071.hp2 HG02080.hp2 HG02145.hp2 HG02273.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp2 HG03927.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18969.hp1 NA18980.hp1 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA18997.hp2 NA19000.hp2 NA19006.hp2 NA19007.hp1 NA19011.hp1 NA19056.hp2 NA19058.hp2 NA19059.hp2 NA19078.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0002 a0001c0001 a0004c0002	a0001c0001t0001 a0001c0001t0002 a0004c0002t0002 a0001c0001t0001 a0001c0001t0002 a0004c0002t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0006 others(43): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0159 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0319 a0004c0002t0002g0178	67	388	0.1727	43	c.487 others(60): Show c.487+1081_487+1082insAATTTCTATATATATTATATATAGAATA TATATATATAGAATA	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPM_chr22_41933737_41952152	41935550	A A	AAGGTTCA others(36): Show AAGGTTCACCTCCAGCCTCTTCCTTCTGCCCTGGAGCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0139 a0003c0005t0002g0139	1	258	0.0039	43	c.35 others(54): Show c.3505_*3506insAGGGGAGGCTCCAGGGCAGAAGGAAGAGGCTGGA GGTGAACCT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding		3186		chr22	TogoVar
CENPM_chr22_41933737_41952152	41938497	C C	CTGGGACT others(36): Show CTGGGACTACAGGCGCCCACCACCACATCTGGCTAATTTTTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	258	0.0039	43	c.55 others(52): Show c.558_*559insTACAAAAATTAGCCAGATGTGGTGGTGGGCGCCTGT AGTCCCA	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding		239		chr22	TogoVar
CENPP_chr9_92320953_92625529	92551936	T T	TATATATG others(36): Show TATATATGATATATATATATATATATGATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0002 a0001c0001t0015g0002	1	260	0.0039	43	c.565 others(62): Show c.565-59372_565-59371insGATATATATATATATATATGATATAT ATATATATATGATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP128_chr14_80491479_80946738	80678045	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATGTATGTATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0057 a0007c0010t0001g0057	1	164	0.0061	43	c.280 others(64): Show c.2806+65029_2806+65030insATATATATATATACATACATATAT ATATATATATATATATATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP41_chr7_130388771_130446016	130440986	G G	GTTCGGGG others(36): Show GTTCGGGGTTCTAGCCTCACGGGTTGCCTCTAACCCTAGCTTCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0310 a0001c0001t0089g0310	1	346	0.0029	43	c.-63 others(50): Show c.-63_-21dupGGAAGCTAGGGTTAGAGGCAACCCGTGAGGCTAGAACC CCGAA	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding	1/11	21		chr7	TogoVar
CEP72_chr5_607340_658553	649587	C C	CTGTGAGG others(36): Show CTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	91	0.0110	43	c.177 others(62): Show c.1778+1673_1778+1674insTGAGGCGTGGACTGTGAGGTGTGACT GTGAGGCGTGGACTGTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CERS3_chr15_100395395_100533950	100466844	T T	TTTCTCTC others(36): Show TTTCTCTCTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	362	0.0028	43	c.845 others(60): Show c.845+2533_845+2534insGAGAAAGAGAGAAAGAGAGAGAGAGAGA GAGAGAAAGAGAGAA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS5_chr12_50124289_50172369	50156437	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0044 a0002c0003t0003g0044	1	320	0.0031	43	c.197 others(62): Show c.197+10663_197+10664insTATATATATATATATATATATATATA TATATATATATATATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50156438	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0089 a0001c0001t0005g0089	1	320	0.0031	43	c.197 others(62): Show c.197+10662_197+10663insATATATATATATATATATATATATAT ATATATATATATATATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTCTGT others(36): Show CTTTCTGTTTTCTTTCTTTTTTTTTTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA19067.hp1 NA19079.hp2 HG03942.hp2 NA19067.hp1 NA19079.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0009 a0001c0002 a0008c0009	a0001c0002t0003 a0008c0009t0002 a0008c0009t0004 a0001c0002t0003 a0008c0009t0002 a0008c0009t0004	a0001c0002t0003g0039 a0008c0009t0002g0275 a0008c0009t0004g0068 a0001c0002t0003g0039 a0008c0009t0002g0275 a0008c0009t0004g0068	3	449	0.0067	43	c.112 others(62): Show c.1126-1504_1126-1503insAAAAAAAAAAAAAAAGAAAAAAAAAA AAGAAAGAAAACAGAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CFAP46_chr10_132803392_132947570	132821332	A A	ATGTGTGC others(36): Show ATGTGTGCTGTGTGTGCTGTGTGTTGTGTGTGCTGTGTGAGTGC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02109.hp2 HG00733.hp2 HG02109.hp2	a0064 a0065 a0064 a0065	a0064c0101 a0065c0102 a0064c0101 a0065c0102	a0064c0101t0002 a0065c0102t0002 a0064c0101t0002 a0065c0102t0002	a0064c0101t0002g0022 a0065c0102t0002g0018 a0064c0101t0002g0022 a0065c0102t0002g0018	2	246	0.0081	43	c.711 others(62): Show c.7118-6419_7118-6418insGCACTCACACAGCACACACAACACAC AGCACACACAGCACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132821495	A A	ATGTGTGC others(36): Show ATGTGTGCTGTGTGCTGATGTGTGCTGTGTGCTGATGTGTGCTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0038 a0038	a0038c0037 a0038c0037	a0038c0037t0001 a0038c0037t0001	a0038c0037t0001g0230 a0038c0037t0001g0230	1	246	0.0041	43	c.711 others(62): Show c.7118-6582_7118-6581insCAGCACACATCAGCACACAGCACACA TCAGCACACAGCACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132887600	T T	TTCTCTCT others(36): Show TTCTCTCTCCTCTCCTCTCCCCTCTTCTCTCCTCTCCCTTCTTC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0005 a0005	a0005c0047 a0005c0047	a0005c0047t0001 a0005c0047t0001	a0005c0047t0001g0216 a0005c0047t0001g0216	1	246	0.0041	43	c.330 others(62): Show c.3305-1642_3305-1641insGAAGAAGGGAGAGGAGAGAAGAGGGG AGAGGAGAGGAGAGAGA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AAGAAAGA others(36): Show AAGAAAGAGAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	316	0.0032	43	c.117 others(62): Show c.1175-1857_1175-1856insAAGAGAGAGAAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP68_chr11_111874541_111890975	111876750	G G	GTTATAGT others(36): Show GTTATAGTAGATATAATAGTAATATGAAGATTTTATTGTTTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	392	0.0026	43	c.-28 others(54): Show c.-2811_-2810insTTATAGTAGATATAATAGTAATATGAAGATTTTA TTGTTTAAA	CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding		2790		chr11	TogoVar
CFAP70_chr10_73248762_73363864	73270522	T T	TTCCCACT others(36): Show TTCCCACTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03579.hp1 HG03453.hp2 HG03579.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0026 a0004c0004t0001g0018 a0002c0002t0001g0026 a0004c0004t0001g0018	2	220	0.0091	43	c.313 others(60): Show c.3136-808_3136-807insGGGGAGGGGAGGGGAGGGGAGAGGGGAG GGGAGGGGAGTGGGA	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	25/27			chr10	TogoVar
CHD5_chr1_6096787_6185321	6180139	A A	ACAAGAGA others(36): Show ACAAGAGAAAAAAGATAGGGGAAAAAAAAAAAGATCATAGACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0042 a0001c0013t0042	a0001c0013t0042g0015 a0001c0013t0042g0015	1	320	0.0031	43	c.-11 others(52): Show c.-117_-116insGTGTCTATGATCTTTTTTTTTTTCCCCTATCTTTTT TCTCTTG	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	1/42	117		chr1	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	324	0.0031	43	c.853 others(60): Show c.853-4721_853-4720insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36			chr20	TogoVar
CHSY1_chr15_101170727_101257048	101214617	T T	TGGTGGGA others(36): Show TGGTGGGAGGTGGCTGGATCATGGAGGTGGATTTCTCATGCATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0100 a0001c0003t0004g0100	1	422	0.0024	43	c.816 others(62): Show c.816+20422_816+20464dupTATGCATGAGAAATCCACCTCCATGA TCCAGCCACCTCCCACC	CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2			chr15	TogoVar
CHTF18_chr16_783620_803074	795400	G G	GCCCTCCC others(36): Show GCCCTCCCGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0009 a0009	a0009c0027 a0009c0027	a0009c0027t0001 a0009c0027t0001	a0009c0027t0001g0090 a0009c0027t0001g0090	1	428	0.0023	43	c.217 others(58): Show c.2175+47_2175+48insTCCCGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCACCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CIP2A_chr3_108544864_108594438	108553894	T T	TACAAAAA others(36): Show TACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0322 a0001c0001t0004g0322	1	372	0.0027	43	c.232 others(60): Show c.2325-165_2325-164insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	18/20			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33571015	A A	ATTTTTTT others(36): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	278	0.0036	43	c.270 others(60): Show c.2700-226_2700-225insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	25/38			chr3	TogoVar
CLDN8_chr21_30209006_30221097	30210288	T T	TATATATA others(36): Show TATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	466	0.0022	43	c.49 others(54): Show c.4959_*4960insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3717		chr21	TogoVar

Search by Variant

Search

Search Results (Total: 2299 hits)