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
CLIP2_chr7_74284407_74410935	74364993	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp2 HG02630.hp2 others(9): Show HG02257.hp1 HG02622.hp2 HG02630.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03453.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0027 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0003g0059 a0001c0002t0001g0028	12	278	0.0432	-18	c.138 others(35): Show c.1380+719_1380+736delTGTGTGTGTGTGTGTGTG	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLIP3_chr19_36009660_36037873	36031008	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	416	0.0024	-18	c.166 others(35): Show c.166+1166_166+1183delAAAGAAAAAAAAAAAAAA	CLIP3	ENSG00000105270.15	transcript	ENST00000360535.9	protein_coding	2/13			chr19	TogoVar
CLIP3_chr19_36009660_36037873	36037243	TACACACA others(11): Show TACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(114): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02735.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03516.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18983.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19043.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0004g0213 a0001c0001t0006g0039 a0001c0001t0006g0160 a0001c0001t0006g0161 a0001c0001t0006g0203 a0001c0001t0006g0222 a0001c0001t0014g0163 a0001c0004t0001g0202 a0001c0005t0001g0040	117	416	0.2813	-18	c.-45 others(29): Show c.-4596_-4579delGTGTGTGTGTGTGTGTGT	CLIP3	ENSG00000105270.15	transcript	ENST00000360535.9	protein_coding		4371		chr19	TogoVar
CLIP4_chr2_29110415_29188808	29169329	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0202 a0001c0001t0006g0202	1	292	0.0034	-18	c.172 others(37): Show c.1723+1819_1723+1836delGTGTGTGTGTGTGTGTGT	CLIP4	ENSG00000115295.21	transcript	ENST00000320081.10	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
CLMN_chr14_95176940_95324908	95215815	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0115 a0001c0003t0002g0115	1	276	0.0036	-18	c.325 others(32): Show c.325-100_325-83delCACACACACACACACACA	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	4/12			chr14	TogoVar
CLMP_chr11_123064872_123200248	123106408	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02895.hp1 HG02897.hp1 HG02630.hp2 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0215 a0001c0003t0010g0216 a0001c0003t0010g0218 a0001c0003t0010g0215 a0001c0003t0010g0216 a0001c0003t0010g0218	3	254	0.0118	-18	c.29- others(33): Show c.29-8474_29-8457delGCACACACACACACACAC	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123106418	TGTGTGTG others(11): Show TGTGTGTGCGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	254	0.0039	-18	c.29- others(33): Show c.29-8484_29-8467delGCGCGCGCGCGCACACAC	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123118981	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18966.hp1 NA20752.hp1 HG03710.hp1 NA18966.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0023 a0001c0001t0001 a0001c0001t0011 a0001c0001t0023	a0001c0001t0001g0040 a0001c0001t0011g0031 a0001c0001t0023g0061 a0001c0001t0001g0040 a0001c0001t0011g0031 a0001c0001t0023g0061	3	254	0.0118	-18	c.29- others(35): Show c.29-21047_29-21030delAAGAAAGAAAGAAAGAAA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLN3_chr16_28472279_28497074	28481436	ACACACAC others(11): Show ACACACACACACACACACG	A A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	360	0.0028	-18	c.105 others(35): Show c.1056+651_1056+668delCGTGTGTGTGTGTGTGTG	CLN3	ENSG00000188603.22	transcript	ENST00000636147.2	protein_coding	14/15			chr16	TogoVar
CLN8_chr8_1758789_1791570	1763751	TGCGAACG others(11): Show TGCGAACGCGCGTGCGCGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0088 a0001c0001t0007g0088	1	413	0.0024	-18	c.-25 others(27): Show c.-257_-240delGCGAACGCGCGTGCGCGG	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		37		chr8	TogoVar
CLNK_chr4_10481395_10689768	10655334	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(120): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG01257.hp2 HG01358.hp2 HG01517.hp2 HG01891.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02523.hp1 HG02615.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02897.hp1 HG02922.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp1 NA19074.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0002c0002 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0070 a0001c0004t0076 a0001c0005t0008 a0001c0005t0027 a0001c0008t0056 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0011 a0002c0002t0012 a0002c0002t0031 a0002c0002t0061 a0006c0011t0031	a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0284 others(120): Show a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0002g0046 a0001c0001t0002g0122 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0003g0005 a0001c0001t0003g0090 a0001c0001t0003g0191 a0001c0001t0003g0212 a0001c0001t0003g0221 a0001c0001t0003g0225 a0001c0001t0003g0228 a0001c0001t0003g0232 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0240 a0001c0001t0003g0247 a0001c0001t0003g0250 a0001c0001t0003g0308 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0005g0004 a0001c0001t0005g0108 a0001c0001t0005g0233 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0005g0249 a0001c0001t0005g0260 a0001c0001t0005g0270 a0001c0001t0005g0296 a0001c0001t0005g0306 a0001c0001t0005g0309 a0001c0001t0006g0010 a0001c0001t0007g0093 a0001c0001t0007g0094 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0098 a0001c0001t0007g0229 a0001c0001t0007g0230 a0001c0001t0007g0301 a0001c0001t0007g0311 a0001c0001t0008g0213 a0001c0001t0008g0223 a0001c0001t0008g0253 a0001c0001t0008g0254 a0001c0001t0008g0271 a0001c0001t0008g0299 a0001c0001t0008g0312 a0001c0001t0008g0319 a0001c0001t0010g0211 a0001c0001t0010g0248 a0001c0001t0010g0269 a0001c0001t0010g0302 a0001c0001t0010g0313 a0001c0001t0010g0314 a0001c0001t0011g0059 a0001c0001t0011g0120 a0001c0001t0011g0285 a0001c0001t0013g0218 a0001c0001t0013g0238 a0001c0001t0013g0255 a0001c0001t0013g0256 a0001c0001t0013g0261 a0001c0001t0014g0287 a0001c0001t0019g0014 a0001c0001t0023g0153 a0001c0001t0023g0195 a0001c0001t0024g0227 a0001c0001t0025g0192 a0001c0001t0025g0235 a0001c0001t0026g0201 a0001c0001t0028g0265 a0001c0001t0029g0257 a0001c0001t0029g0259 a0001c0001t0030g0310 a0001c0001t0030g0316 a0001c0001t0032g0295 a0001c0001t0035g0194 a0001c0001t0036g0193 a0001c0001t0037g0215 a0001c0001t0038g0214 a0001c0001t0040g0234 a0001c0001t0041g0222 a0001c0001t0043g0231 a0001c0001t0044g0190 a0001c0001t0045g0197 a0001c0001t0046g0251 a0001c0001t0047g0226 a0001c0001t0049g0119 a0001c0001t0051g0092 a0001c0001t0052g0244 a0001c0001t0053g0273 a0001c0001t0055g0239 a0001c0001t0057g0021 a0001c0001t0070g0121 a0001c0004t0076g0174 a0001c0005t0008g0220 a0001c0005t0008g0224 a0001c0005t0027g0258 a0001c0005t0027g0275 a0001c0008t0056g0317 a0002c0002t0001g0040 a0002c0002t0004g0051 a0002c0002t0004g0060 a0002c0002t0004g0061 a0002c0002t0004g0087 a0002c0002t0005g0252 a0002c0002t0006g0047 a0002c0002t0011g0045 a0002c0002t0012g0054 a0002c0002t0031g0318 a0002c0002t0061g0044 a0006c0011t0031g0199	123	320	0.3844	-18	c.11+ others(35): Show c.11+12507_11+12524delCTCTCTCTCTCTCTCTCT	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLOCK_chr4_55422903_55551909	55448599	CGCGTGTG others(11): Show CGCGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03942.hp1 HG01261.hp2 HG03942.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0040 a0003c0007t0040	a0003c0007t0040g0179 a0003c0007t0040g0180 a0003c0007t0040g0179 a0003c0007t0040g0180	2	338	0.0059	-18	c.153 others(35): Show c.1539+162_1539+179delACACACACACACACACGC	CLOCK	ENSG00000134852.15	transcript	ENST00000513440.6	protein_coding	18/22			chr4	TogoVar
CLPB_chr11_72280495_72439531	72297636	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03098.hp2 HG03130.hp1 others(4): Show HG02630.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0001c0001t0019 a0001c0001t0054 others(4): Show a0001c0001t0007 a0001c0001t0019 a0001c0001t0054 a0001c0001t0056 a0001c0001t0065 a0002c0003t0121 a0002c0003t0125	a0001c0001t0007g0024 a0001c0001t0019g0011 a0001c0001t0054g0080 others(4): Show a0001c0001t0007g0024 a0001c0001t0019g0011 a0001c0001t0054g0080 a0001c0001t0056g0123 a0001c0001t0065g0194 a0002c0003t0121g0142 a0002c0003t0125g0139	7	206	0.0340	-18	c.142 others(37): Show c.1420-2006_1420-1989delACACACACACACACACAC	CLPB	ENSG00000162129.15	transcript	ENST00000294053.9	protein_coding	12/16			chr11	TogoVar
CLPTM1_chr19_44950380_44998341	44974960	AAGTGCAG others(11): Show AAGTGCAGGGTACTAAGCT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0050	1	374	0.0027	-18	c.468 others(33): Show c.468+366_468+383delTGCAGGGTACTAAGCTAG	CLPTM1	ENSG00000104853.16	transcript	ENST00000337392.10	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLPTM1_chr19_44950380_44998341	44989551	AGAGCTCT others(11): Show AGAGCTCTGGGATGTGGGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0060	1	374	0.0027	-18	c.113 others(35): Show c.1133-812_1133-795delTGGGGGAGCTCTGGGATG	CLPTM1	ENSG00000104853.16	transcript	ENST00000337392.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLSPN_chr1_35727112_35774978	35728921	AACACACA others(11): Show AACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02970.hp1 HG03453.hp2 others(4): Show HG02922.hp2 HG02970.hp1 HG03453.hp2 HG03540.hp2 NA18906.hp2 NA18995.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0017 a0003c0003t0004 others(1): Show a0001c0001t0003 a0001c0001t0017 a0003c0003t0004 a0003c0003t0014	a0001c0001t0003g0012 a0001c0001t0017g0207 a0001c0001t0017g0208 others(4): Show a0001c0001t0003g0012 a0001c0001t0017g0207 a0001c0001t0017g0208 a0003c0003t0004g0198 a0003c0003t0004g0199 a0003c0003t0014g0195 a0003c0003t0014g0196	7	296	0.0237	-18	c.75 others(29): Show c.7557_*7574delGTGTGTGTGTGTGTGTGT	CLSPN	ENSG00000092853.14	transcript	ENST00000318121.8	protein_coding		3190		chr1	TogoVar
CLSTN2_chr3_139930185_140582397	140135113	CACACATA others(11): Show CACACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	110	0.0091	-18	c.110 others(37): Show c.110-40836_110-40819delCACATATATATATATATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140171669	AATATGTA others(11): Show AATATGTATTATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00738.hp2 HG01243.hp1 others(5): Show HG00621.hp2 HG00738.hp2 HG01243.hp1 HG02559.hp2 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0001c0018 others(3): Show a0001c0001 a0001c0008 a0001c0018 a0002c0002 a0002c0005 a0002c0021	a0001c0001t0001 a0001c0001t0006 a0001c0001t0035 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0035 a0001c0008t0016 a0001c0018t0002 a0002c0002t0001 a0002c0005t0004 a0002c0021t0009	a0001c0001t0001g0045 a0001c0001t0006g0025 a0001c0001t0035g0082 others(5): Show a0001c0001t0001g0045 a0001c0001t0006g0025 a0001c0001t0035g0082 a0001c0008t0016g0051 a0001c0018t0002g0006 a0002c0002t0001g0022 a0002c0005t0004g0046 a0002c0021t0009g0030	8	110	0.0727	-18	c.110 others(35): Show c.110-4277_110-4260delGTATTATATATAATATAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140240193	TATATATA others(11): Show TATATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0004 a0001c0001t0025g0004	1	110	0.0091	-18	c.232 others(37): Show c.232+64122_232+64139delTATATACACACACACACA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140240207	CACACACA others(11): Show CACACACACACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02970.hp2 HG02886.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0037 a0001c0001t0006g0057 a0001c0001t0001g0037 a0001c0001t0006g0057	2	110	0.0182	-18	c.232 others(37): Show c.232+64136_232+64153delCACACACACACACATATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140264375	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0008 a0004c0013t0008	a0004c0013t0008g0106 a0004c0013t0008g0106	1	110	0.0091	-18	c.232 others(37): Show c.232+88338_232+88355delTATATATATATATATATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140419513	ACACACAC others(11): Show ACACACACATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01081.hp2 HG01109.hp1 others(28): Show HG00621.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp2 HG03704.hp1 HG06807.hp1 NA18977.hp1 NA19043.hp2 NA19066.hp1 NA19079.hp2 NA19087.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0006 a0001c0008 others(10): Show a0001c0001 a0001c0006 a0001c0008 a0002c0002 a0002c0004 a0002c0007 a0002c0010 a0002c0022 a0002c0023 a0003c0012 a0004c0013 a0005c0011 a0006c0020	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(20): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0029 a0001c0001t0036 a0001c0006t0002 a0001c0006t0004 a0001c0008t0009 a0002c0002t0033 a0002c0004t0001 a0002c0004t0007 a0002c0004t0017 a0002c0004t0037 a0002c0004t0038 a0002c0007t0003 a0002c0010t0003 a0002c0010t0024 a0002c0022t0010 a0002c0023t0010 a0003c0012t0008 a0004c0013t0008 a0005c0011t0002 a0006c0020t0034	a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0005g0035 others(28): Show a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0005g0035 a0001c0001t0013g0090 a0001c0001t0029g0016 a0001c0001t0036g0044 a0001c0006t0002g0012 a0001c0006t0004g0013 a0001c0008t0009g0042 a0001c0008t0009g0100 a0002c0002t0033g0008 a0002c0004t0001g0072 a0002c0004t0007g0067 a0002c0004t0007g0085 a0002c0004t0017g0061 a0002c0004t0037g0073 a0002c0004t0038g0108 a0002c0007t0003g0015 a0002c0007t0003g0043 a0002c0007t0003g0083 a0002c0010t0003g0109 a0002c0010t0024g0023 a0002c0022t0010g0020 a0002c0023t0010g0104 a0003c0012t0008g0014 a0003c0012t0008g0041 a0004c0013t0008g0099 a0004c0013t0008g0106 a0005c0011t0002g0087 a0005c0011t0002g0101 a0006c0020t0034g0102	31	110	0.2818	-18	c.638 others(35): Show c.638-1611_638-1594delCACACACATATGTGTGTG	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	4/16			chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140448209	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01433.hp1 HG01496.hp2 others(10): Show HG01109.hp1 HG01433.hp1 HG01496.hp2 HG02257.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02723.hp2 HG02809.hp2 HG03516.hp2 NA18906.hp2 NA19043.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0002c0010 others(3): Show a0001c0001 a0002c0002 a0002c0010 a0002c0022 a0004c0013 a0006c0020	a0001c0001t0006 a0001c0001t0011 a0002c0002t0001 others(8): Show a0001c0001t0006 a0001c0001t0011 a0002c0002t0001 a0002c0002t0011 a0002c0002t0033 a0002c0002t0044 a0002c0010t0003 a0002c0010t0024 a0002c0022t0010 a0004c0013t0008 a0006c0020t0034	a0001c0001t0006g0025 a0001c0001t0006g0095 a0001c0001t0011g0031 others(10): Show a0001c0001t0006g0025 a0001c0001t0006g0095 a0001c0001t0011g0031 a0002c0002t0001g0022 a0002c0002t0011g0103 a0002c0002t0033g0008 a0002c0002t0044g0096 a0002c0010t0003g0109 a0002c0010t0024g0023 a0002c0022t0010g0020 a0004c0013t0008g0099 a0004c0013t0008g0106 a0006c0020t0034g0102	13	110	0.1182	-18	c.788 others(33): Show c.788-293_788-276delTGTGTGTGTGTGTGTGTG	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140490117	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03041.hp1 HG03209.hp2 others(2): Show HG00621.hp1 HG03041.hp1 HG03209.hp2 HG03516.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0017 others(1): Show a0001c0001 a0002c0002 a0002c0017 a0002c0022	a0001c0001t0001 a0002c0002t0001 a0002c0017t0005 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0017t0005 a0002c0022t0010	a0001c0001t0001g0019 a0001c0001t0001g0093 a0002c0002t0001g0074 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0093 a0002c0002t0001g0074 a0002c0017t0005g0027 a0002c0022t0010g0020	5	110	0.0455	-18	c.134 others(39): Show c.1344+23414_1344+23431delCACACACACACACACACA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLUH_chr17_2684387_2716764	2691961	GCCCCCGC others(11): Show GCCCCCGCCCCGCCCCCGC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0266 a0001c0028t0001g0266	1	420	0.0024	-18	c.365 others(33): Show c.3654+25_3654+42delGCGGGGGCGGGGCGGGGG	CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	23/25			chr17	TogoVar
CLUL1_chr18_591988_655182	626960	AAGGAAGG others(11): Show AAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	414	0.0024	-18	c.424 others(33): Show c.424-136_424-119delAGGAAGGAAGGAAGGAAG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9			chr18	TogoVar
CLUL1_chr18_591988_655182	626964	AAGGAAGG others(11): Show AAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	414	0.0024	-18	c.424 others(33): Show c.424-132_424-115delAGGAAGGAAGGAAGGAAG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9			chr18	TogoVar
CLUL1_chr18_591988_655182	645810	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19240.hp1 HG02895.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0004 a0002c0005t0001 a0001c0001t0004 a0002c0005t0001	a0001c0001t0004g0141 a0002c0005t0001g0048 a0001c0001t0004g0141 a0002c0005t0001g0048	2	414	0.0048	-18	c.139 others(35): Show c.1397+738_1397+755delATATATATATATATATAT	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLVS1_chr8_61282970_61506629	61347626	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01081.hp2 others(9): Show HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01515.hp2 HG01928.hp1 HG02895.hp2 HG02896.hp2 HG03195.hp2 HG03486.hp1 NA18906.hp1 NA18993.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0026	a0001c0001t0001g0044 a0001c0001t0001g0109 a0001c0001t0001g0121 others(9): Show a0001c0001t0001g0044 a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0002g0027 a0001c0001t0002g0122 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0012g0130 a0001c0001t0013g0129 a0001c0001t0026g0083	12	184	0.0652	-18	c.456 others(37): Show c.456-28939_456-28922delATATATATATATATATAT	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLYBL_chr13_99601690_99897570	99608847	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01074.hp1 HG01168.hp1 others(2): Show HG01069.hp1 HG01074.hp1 HG01168.hp1 HG01169.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(2): Show a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170	5	218	0.0229	-18	c.62+ others(33): Show c.62+2102_62+2119delTTTTTTTTTTTTTTTTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99768511	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	218	0.0046	-18	c.63- others(33): Show c.63-4312_63-4295delTTTTTTTTTTTTTTTTTA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8			chr13	TogoVar
CLYBL_chr13_99601690_99897570	99819416	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02273.hp1 HG02647.hp1 others(3): Show HG01981.hp1 HG02273.hp1 HG02647.hp1 HG02970.hp2 HG03130.hp1 HG03516.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 others(3): Show a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0005t0001g0010 a0002c0002t0001g0152 a0003c0003t0001g0149	6	218	0.0275	-18	c.250 others(37): Show c.250-39410_250-39393delTATATATATATATATATA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99830999	ACAGACAC others(11): Show ACAGACACAGAAGAGAAGT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp2 NA18906.hp1 HG03453.hp1 HG03471.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0002c0002t0001g0052 a0001c0001t0001g0001 a0001c0001t0001g0006 a0002c0002t0001g0052	3	218	0.0138	-18	c.250 others(37): Show c.250-27833_250-27816delAGAGAAGTCAGACACAGA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CMAS_chr12_22041218_22070668	22041945	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	450	0.0022	-18	c.-43 others(29): Show c.-4358_-4341delAAAAAAAAAAAAAAAAAA	CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding		4272		chr12	TogoVar
CMAS_chr12_22041218_22070668	22041965	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01243.hp1 others(17): Show HG00741.hp1 HG00741.hp2 HG01243.hp1 HG02055.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp2 HG02723.hp1 HG02818.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03516.hp2 HG06807.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0024 others(11): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0158 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0213 a0001c0001t0001g0214	20	450	0.0444	-18	c.-43 others(29): Show c.-4338_-4321delAAAAAAAAAAAAAAAAAG	CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding		4252		chr12	TogoVar
CMC1_chr3_28236619_28330142	28300619	CTCCCTCC others(11): Show CTCCCTCCCTCCATCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03139.hp2 HG02647.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0021 a0001c0001t0007g0022	2	338	0.0059	-18	c.110 others(37): Show c.110-15686_110-15669delCCATCCCTTTCCCTCCCT	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28309941	CCACACAC others(11): Show CCACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0065 a0001c0001t0002g0004 a0001c0001t0002g0065	3	338	0.0089	-18	c.110 others(35): Show c.110-6360_110-6343delACACACACACACACACAC	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC4_chrX_155056622_155076136	155057031	TGGCCTCA others(11): Show TGGCCTCATCCTGCTAGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02622.hp2 others(1): Show HG01884.hp2 HG02451.hp1 HG02622.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	4	292	0.0137	-18	c.47 others(29): Show c.4794_*4811delTACTAGCAGGATGAGGCC	CMC4	ENSG00000182712.16	transcript	ENST00000369484.8	protein_coding		4590		chrX	TogoVar
CMIP_chr16_81439808_81716762	81459014	GTCACCAT others(11): Show GTCACCATCACTGTCACCA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01255.hp2 others(2): Show HG01070.hp2 HG01071.hp1 HG01255.hp2 HG02698.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0019 a0001c0001t0001g0254 a0001c0001t0001g0255 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0010g0257	5	268	0.0187	-18	c.300 others(37): Show c.300+13484_300+13501delTGTCACCATCACCATCAC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81459044	ATCACCAT others(11): Show ATCACCATCACCATCACTG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0101 a0001c0001t0027g0101	1	268	0.0037	-18	c.300 others(37): Show c.300+13509_300+13526delATCACCATCACTGTCACC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81493632	CGTTCCCA others(11): Show CGTTCCCACTCTCCGCATG	C C	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0108 a0001c0001t0008g0108	1	268	0.0037	-18	c.300 others(37): Show c.300+48093_300+48110delTTCCCACTCTCCGCATGG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81511656	GCTCAGAT others(11): Show GCTCAGATGATCCTCCCAC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	268	0.0037	-18	c.300 others(37): Show c.300+66121_300+66138delATGATCCTCCCACCTCAG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81577349	CACCATCA others(11): Show CACCATCACCACCATCATA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG01168.hp1 others(19): Show HG01081.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0024 a0001c0001t0025 a0001c0002t0001	a0001c0001t0001g0048 a0001c0001t0001g0118 a0001c0001t0001g0123 others(19): Show a0001c0001t0001g0048 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0003g0002 a0001c0001t0004g0095 a0001c0001t0004g0111 a0001c0001t0004g0120 a0001c0001t0006g0126 a0001c0001t0006g0198 a0001c0001t0006g0210 a0001c0001t0010g0006 a0001c0001t0014g0267 a0001c0001t0016g0217 a0001c0001t0024g0047 a0001c0001t0025g0191 a0001c0002t0001g0192	22	268	0.0821	-18	c.301 others(37): Show c.301-30208_301-30191delACCATCATAACCATCACC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81590237	CCCTCCCA others(11): Show CCCTCCCATTCCTTCCCTA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00558.hp2 others(49): Show HG00140.hp1 HG00423.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG01109.hp1 HG01243.hp2 HG01257.hp2 HG01928.hp2 HG01943.hp2 HG02004.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02698.hp1 HG02717.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03491.hp1 HG04115.hp2 NA18612.hp2 NA18943.hp1 NA18945.hp2 NA18960.hp2 NA18973.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18991.hp2 NA19009.hp2 NA19011.hp1 NA19057.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0031 a0001c0001t0039 a0001c0003t0001 a0001c0005t0043 a0001c0008t0013	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0018 others(49): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0088 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0146 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0003g0090 a0001c0001t0003g0143 a0001c0001t0003g0172 a0001c0001t0004g0005 a0001c0001t0004g0204 a0001c0001t0005g0043 a0001c0001t0005g0050 a0001c0001t0005g0052 a0001c0001t0005g0161 a0001c0001t0006g0127 a0001c0001t0007g0250 a0001c0001t0007g0251 a0001c0001t0008g0071 a0001c0001t0008g0078 a0001c0001t0009g0069 a0001c0001t0009g0117 a0001c0001t0010g0057 a0001c0001t0012g0055 a0001c0001t0012g0114 a0001c0001t0017g0030 a0001c0001t0017g0070 a0001c0001t0018g0017 a0001c0001t0031g0158 a0001c0001t0039g0216 a0001c0003t0001g0189 a0001c0003t0001g0197 a0001c0005t0043g0252 a0001c0008t0013g0177	52	268	0.1940	-18	c.301 others(37): Show c.301-17315_301-17298delCCTACCTCCCATTCCTTC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81648784	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18947.hp1 NA18991.hp1 others(2): Show HG01358.hp1 NA18947.hp1 NA18991.hp1 NA18995.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0021 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0021 a0001c0001t0034 a0001c0001t0050	a0001c0001t0003g0089 a0001c0001t0005g0023 a0001c0001t0021g0157 others(2): Show a0001c0001t0003g0089 a0001c0001t0005g0023 a0001c0001t0021g0157 a0001c0001t0034g0116 a0001c0001t0050g0082	5	268	0.0187	-18	c.478 others(35): Show c.478-3400_478-3383delAAAAAAAAAAAAAAAAAA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81667787	AGAGAGAG others(11): Show AGAGAGAGAGAGAGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19081.hp2 HG00621.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0215 a0001c0001t0008g0092 a0001c0001t0002g0215 a0001c0001t0008g0092	2	268	0.0075	-18	c.826 others(35): Show c.826-2353_826-2336delAGAGAGAGAGAGTGTGTG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81667789	AGAGAGAG others(11): Show AGAGAGAGAGAGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	268	0.0037	-18	c.826 others(35): Show c.826-2351_826-2334delAGAGAGAGAGTGTGTGTG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMKLR2_chr2_206170316_206218371	206172724	CGGGAGAG others(11): Show CGGGAGAGGGAGAGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG02132.hp1 HG02293.hp1 others(5): Show HG00741.hp2 HG02132.hp1 HG02293.hp1 HG02523.hp2 HG03130.hp2 NA18951.hp2 NA18961.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0261 a0001c0001t0002g0273 a0001c0001t0002g0281 others(5): Show a0001c0001t0002g0261 a0001c0001t0002g0273 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0002c0002t0001g0030 a0002c0002t0001g0111 a0002c0002t0001g0138	8	322	0.0248	-18	c.34 others(29): Show c.3438_*3455delTCTCCCTCTCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2591		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172761	CGGGAGAG others(11): Show CGGGAGAGGGAGAGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02572.hp1 HG03486.hp2 others(3): Show HG01109.hp1 HG02572.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0274 a0002c0003t0001g0016 a0002c0003t0001g0192 others(3): Show a0001c0001t0002g0274 a0002c0003t0001g0016 a0002c0003t0001g0192 a0002c0003t0001g0256 a0002c0003t0001g0257 a0002c0003t0001g0258	6	322	0.0186	-18	c.34 others(29): Show c.3401_*3418delTCTCCCTCTCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2554		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172854	AGGGAGAG others(11): Show AGGGAGAGGGAGACGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG02056.hp1 others(10): Show HG00558.hp2 HG00673.hp2 HG02056.hp1 HG02056.hp2 HG02698.hp1 HG02738.hp1 HG03704.hp2 HG04199.hp2 NA18970.hp1 NA18980.hp1 NA19000.hp2 NA19066.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013	a0001c0001t0002g0102 a0001c0001t0002g0107 a0001c0001t0002g0163 others(10): Show a0001c0001t0002g0102 a0001c0001t0002g0107 a0001c0001t0002g0163 a0001c0001t0002g0170 a0001c0001t0002g0265 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0286 a0001c0001t0002g0306 a0001c0001t0008g0280 a0001c0001t0011g0263 a0001c0001t0012g0268 a0001c0001t0013g0271	13	322	0.0404	-18	c.33 others(29): Show c.3308_*3325delCTCCCGTCTCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2461		chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)