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
CLSTN2_chr3_139930185_140582397	140438431	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp1 HG02615.hp1 others(6): Show HG02145.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG03209.hp2 HG03516.hp2 NA18906.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 others(2): Show a0001c0001 a0002c0002 a0002c0007 a0002c0017 a0002c0022	a0001c0001t0001 a0001c0001t0043 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0043 a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0007t0003 a0002c0017t0005 a0002c0022t0010	a0001c0001t0001g0056 a0001c0001t0043g0064 a0002c0002t0001g0022 others(6): Show a0001c0001t0001g0056 a0001c0001t0043g0064 a0002c0002t0001g0022 a0002c0002t0002g0002 a0002c0002t0002g0029 a0002c0002t0011g0039 a0002c0007t0003g0083 a0002c0017t0005g0027 a0002c0022t0010g0020	9	110	0.0818	7	c.788 others(26): Show c.788-10072_788-10066dupAAAAAAA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN3_chr12_7125371_7163945	7126510	G G	GGTGGTGT GGTGGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02723.hp2 HG02738.hp2 others(2): Show HG01123.hp1 HG02723.hp2 HG02738.hp2 HG02897.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0027 a0001c0001t0001g0115 a0001c0001t0001g0150 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0115 a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0004g0001	5	394	0.0127	7	c.-41 others(18): Show c.-4139_-4138insGTGGTGT	CLSTN3	ENSG00000139182.15	transcript	ENST00000266546.11	protein_coding		3860		chr12	TogoVar
CLTCL1_chr22_19174473_19296719	19190596	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02083.hp1 NA18947.hp2 others(8): Show HG02080.hp1 HG02083.hp1 NA18947.hp2 NA18957.hp2 NA18977.hp2 NA18984.hp2 NA19012.hp2 NA19054.hp2 NA19065.hp2 NA19072.hp2 NA19077.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0006 a0005c0007t0006	a0005c0007t0006g0298 a0005c0007t0006g0299 a0005c0007t0006g0300 others(8): Show a0005c0007t0006g0298 a0005c0007t0006g0299 a0005c0007t0006g0300 a0005c0007t0006g0301 a0005c0007t0006g0302 a0005c0007t0006g0303 a0005c0007t0006g0304 a0005c0007t0006g0305 a0005c0007t0006g0307 a0005c0007t0006g0309 a0005c0007t0006g0310	11	346	0.0318	7	c.432 others(24): Show c.4323+701_4323+707dupTTTTTTT	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	27/32			chr22	TogoVar
CLUAP1_chr16_3496004_3544048	3529684	T T	TTATATAA TTATATAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01496.hp2 others(31): Show HG00738.hp2 HG01167.hp2 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG02145.hp1 HG02258.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02896.hp2 HG02976.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03669.hp1 HG03704.hp1 HG04199.hp1 HG04204.hp2 NA18945.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18966.hp1 NA18990.hp2 NA19000.hp1 NA19043.hp1 NA19068.hp2 NA19079.hp2 NA19082.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0003c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0058 a0001c0001t0001g0059 others(27): Show a0001c0001t0001g0003 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0112 a0001c0001t0001g0172 a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0003g0061 a0001c0001t0003g0214 a0001c0001t0010g0215 a0001c0001t0010g0220 a0003c0003t0001g0182	34	382	0.0890	7	c.929 others(22): Show c.929-881_929-880insATAATAT	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUAP1_chr16_3496004_3544048	3529684	T T	TTATTATA TTATTATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp1 NA18906.hp1 HG01891.hp2 HG02723.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0166 a0001c0001t0001g0236 a0001c0001t0001g0238	3	382	0.0079	7	c.929 others(22): Show c.929-860_929-854dupTTATATA	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUH_chr17_2684387_2716764	2693141	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00735.hp1 others(47): Show HG00140.hp1 HG00423.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp2 HG01099.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02559.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG03017.hp2 HG03490.hp2 HG03491.hp1 HG03831.hp1 NA18747.hp2 NA18941.hp2 NA18945.hp2 NA18948.hp1 NA18962.hp1 NA18964.hp1 NA18969.hp1 NA18986.hp1 NA19001.hp1 NA19003.hp2 NA19007.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19070.hp1 NA19082.hp2 NA19083.hp1 NA19088.hp2 NA19090.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0009 a0012	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0013 a0001c0015 a0001c0036 a0004c0009 a0006c0030 a0009c0018 a0012c0016	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 a0001c0005t0001 a0001c0011t0001 a0001c0013t0001 a0001c0015t0001 a0001c0036t0001 a0004c0009t0001 a0006c0030t0001 a0009c0018t0003 a0012c0016t0001	a0001c0001t0001g0012 a0001c0001t0001g0147 a0001c0001t0001g0159 others(38): Show a0001c0001t0001g0012 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0181 a0001c0001t0001g0194 a0001c0001t0001g0216 a0001c0001t0004g0062 a0001c0003t0001g0003 a0001c0003t0001g0058 a0001c0003t0001g0082 a0001c0003t0001g0275 a0001c0003t0001g0277 a0001c0003t0001g0279 a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0298 a0001c0003t0001g0299 a0001c0003t0001g0301 a0001c0003t0001g0304 a0001c0003t0005g0272 a0001c0004t0001g0273 a0001c0004t0001g0288 a0001c0004t0001g0289 a0001c0005t0001g0160 a0001c0005t0001g0217 a0001c0011t0001g0281 a0001c0011t0001g0282 a0001c0013t0001g0280 a0001c0015t0001g0287 a0001c0036t0001g0183 a0004c0009t0001g0152 a0006c0030t0001g0300 a0009c0018t0003g0267 a0012c0016t0001g0274	50	420	0.1191	7	c.323 others(24): Show c.3232-288_3232-282dupTTTTTTT	CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	19/25			chr17	TogoVar
CLUL1_chr18_591988_655182	626996	A A	AGAGAAAG AGAGAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03130.hp2 HG03540.hp1 HG02723.hp1 HG03130.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0074 a0001c0001t0003g0340 a0001c0001t0006g0261 a0001c0001t0001g0074 a0001c0001t0003g0340 a0001c0001t0006g0261	3	414	0.0073	7	c.424 others(22): Show c.424-101_424-100insGAGAAAG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9			chr18	TogoVar
CLVS1_chr8_61282970_61506629	61468735	A A	AAAAAAAG AAAAAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01255.hp1 others(30): Show HG01109.hp1 HG01243.hp1 HG01255.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02486.hp1 HG02615.hp2 HG02717.hp1 HG02895.hp1 HG02896.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03486.hp2 HG03669.hp1 HG03688.hp1 NA18522.hp2 NA18906.hp1 NA18968.hp1 NA18995.hp1 NA19002.hp2 NA19007.hp1 NA19043.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0002t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 others(30): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0030 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0002g0068 a0001c0001t0002g0074 a0001c0001t0002g0091 a0001c0001t0002g0102 a0001c0001t0002g0122 a0001c0001t0002g0167 a0001c0001t0003g0038 a0001c0001t0004g0045 a0001c0001t0006g0006 a0001c0001t0006g0016 a0001c0001t0007g0008 a0001c0001t0007g0077 a0001c0001t0011g0177 a0001c0001t0015g0049 a0001c0001t0016g0014 a0001c0001t0017g0004 a0001c0001t0019g0075 a0001c0001t0020g0052 a0001c0001t0024g0010 a0001c0001t0028g0176 a0001c0001t0029g0174 a0001c0002t0001g0151	33	184	0.1794	7	c.977 others(26): Show c.977+10197_977+10198insAAGAAAA	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLYBL_chr13_99601690_99897570	99637962	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(70): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01257.hp1 HG01361.hp1 HG01433.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02165.hp1 HG02257.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG03098.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03669.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp1 NA18946.hp2 NA18947.hp1 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18971.hp1 NA18972.hp2 NA18979.hp2 NA18982.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0005 a0002c0002 others(3): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(70): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0002g0024 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0054 a0001c0005t0001g0189 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0026 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0163 a0002c0002t0001g0191 a0002c0002t0001g0193 a0003c0003t0001g0034 a0003c0003t0001g0048 a0003c0003t0001g0177 a0003c0003t0001g0184 a0003c0003t0001g0195 a0004c0004t0001g0023 a0004c0004t0001g0033 a0004c0004t0001g0211 a0005c0006t0001g0020	73	218	0.3349	7	c.62+ others(24): Show c.62+31218_62+31224dupTTTTTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99684035	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(68): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01361.hp2 HG01433.hp1 HG01928.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02132.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03710.hp2 NA18906.hp1 NA18946.hp2 NA18947.hp1 NA18960.hp1 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA18982.hp2 NA18998.hp1 NA19004.hp1 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19077.hp1 NA19085.hp1 NA20129.hp1 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0010	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0008c0011 a0010c0013	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0008c0011t0001 a0010c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(68): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0127 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0001g0052 a0002c0002t0001g0080 a0002c0002t0001g0113 a0002c0002t0001g0116 a0002c0002t0001g0163 a0002c0002t0001g0191 a0002c0002t0001g0193 a0003c0003t0001g0021 a0003c0003t0001g0048 a0003c0003t0001g0176 a0003c0003t0001g0177 a0003c0003t0001g0184 a0003c0003t0001g0203 a0008c0011t0001g0002 a0010c0013t0001g0118	71	218	0.3257	7	c.62+ others(24): Show c.62+77290_62+77296dupTTTTTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99833031	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01517.hp2 HG02602.hp2 others(3): Show HG01169.hp1 HG01517.hp2 HG02602.hp2 HG03098.hp1 HG03239.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0132 a0001c0001t0001g0158 others(3): Show a0001c0001t0001g0069 a0001c0001t0001g0132 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0201	6	218	0.0275	7	c.250 others(26): Show c.250-25830_250-25829insATATATA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8			chr13	TogoVar
CLYBL_chr13_99601690_99897570	99880068	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00738.hp2 others(32): Show HG00280.hp2 HG00639.hp1 HG00738.hp2 HG01069.hp1 HG01081.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01361.hp2 HG01517.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02055.hp2 HG02080.hp2 HG02735.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03239.hp2 HG03471.hp2 HG03669.hp2 HG04115.hp2 NA18946.hp1 NA18998.hp1 NA19002.hp1 NA19030.hp2 NA19077.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0005c0006t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0025 others(32): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0180 a0001c0001t0001g0205 a0001c0001t0001g0214 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0001g0038 a0002c0002t0001g0052 a0002c0002t0001g0108 a0002c0002t0001g0113 a0003c0003t0001g0048 a0005c0006t0001g0109	35	218	0.1606	7	c.927 others(24): Show c.927+9007_927+9008insATATATT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99880068	A A	ATATATTT ATATATTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02071.hp1 HG02109.hp2 others(6): Show HG00735.hp1 HG02071.hp1 HG02109.hp2 HG02559.hp2 HG02896.hp2 HG03130.hp2 HG03540.hp2 HG06807.hp1 NA19004.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0006c0008	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0006c0008t0001	a0001c0001t0001g0016 a0001c0001t0001g0065 a0001c0001t0001g0078 others(6): Show a0001c0001t0001g0016 a0001c0001t0001g0065 a0001c0001t0001g0078 a0001c0001t0001g0216 a0002c0002t0001g0019 a0002c0002t0001g0044 a0004c0004t0001g0033 a0004c0004t0001g0094 a0006c0008t0001g0056	9	218	0.0413	7	c.927 others(24): Show c.927+9007_927+9008insATATTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99880069	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00639.hp2 others(21): Show HG00140.hp1 HG00323.hp1 HG00639.hp2 HG00733.hp2 HG01074.hp1 HG01433.hp2 HG01978.hp2 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 NA18522.hp1 NA18947.hp2 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18971.hp2 NA18979.hp1 NA19006.hp1 NA19054.hp1 NA19060.hp2 NA19085.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0011	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0011c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0011c0007t0001	a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0001g0047 others(21): Show a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0002g0024 a0002c0002t0001g0039 a0002c0002t0001g0163 a0003c0003t0001g0203 a0004c0004t0001g0049 a0011c0007t0001g0110	24	218	0.1101	7	c.927 others(24): Show c.927+9007_927+9008insATATATA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	7/8			chr13	TogoVar
CLYBL_chr13_99601690_99897570	99888276	G G	GTTTTATA GTTTTATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(111): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01361.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp1 NA18947.hp2 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18971.hp2 NA18979.hp1 NA18998.hp1 NA19004.hp2 NA19006.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19060.hp2 NA19077.hp2 NA19085.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0011	a0001c0001 a0001c0005 a0002c0002 others(6): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0008 a0008c0011 a0011c0007	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0001 a0006c0008t0001 a0008c0011t0001 a0011c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(111): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0002g0024 a0001c0005t0001g0010 a0001c0005t0001g0189 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0052 a0002c0002t0001g0080 a0002c0002t0001g0108 a0002c0002t0001g0113 a0002c0002t0001g0163 a0003c0003t0001g0048 a0003c0003t0001g0203 a0004c0004t0001g0033 a0004c0004t0001g0049 a0004c0004t0001g0094 a0005c0006t0001g0109 a0006c0008t0001g0056 a0008c0011t0001g0002 a0011c0007t0001g0110	114	218	0.5229	7	c.928 others(24): Show c.928-3038_928-3037insATATTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CMC1_chr3_28236619_28330142	28274214	T T	TTTTTTTG TTTTTTTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01934.hp1 HG02145.hp1 others(4): Show HG01496.hp2 HG01934.hp1 HG02145.hp1 HG02895.hp2 HG02965.hp2 HG03130.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0019 a0001c0001t0021 a0001c0001t0033	a0001c0001t0001g0003 a0001c0001t0010g0259 a0001c0001t0010g0260 others(3): Show a0001c0001t0001g0003 a0001c0001t0010g0259 a0001c0001t0010g0260 a0001c0001t0019g0255 a0001c0001t0021g0256 a0001c0001t0033g0015	7	338	0.0207	7	c.109 others(26): Show c.109+10839_109+10840insTGTTTTT	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC2_chr16_80961448_81011885	80965248	T T	TATATATA TATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02074.hp2 HG03942.hp1 others(5): Show HG02056.hp2 HG02074.hp2 HG03942.hp1 NA18988.hp1 NA19003.hp2 NA19005.hp1 NA19057.hp2 NA19076.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0012 others(3): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0012 a0002c0002t0035 a0002c0002t0074 a0002c0002t0085	a0002c0002t0002g0022 a0002c0002t0002g0024 a0002c0002t0004g0149 others(4): Show a0002c0002t0002g0022 a0002c0002t0002g0024 a0002c0002t0004g0149 a0002c0002t0012g0006 a0002c0002t0035g0144 a0002c0002t0074g0140 a0002c0002t0085g0072	8	408	0.0196	7	c.10 others(20): Show c.10844_*10845insTATATAT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1199		chr16	TogoVar
CMC2_chr16_80961448_81011885	80971562	T T	TATATATA TATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01433.hp2 others(11): Show HG01167.hp2 HG01169.hp2 HG01433.hp2 HG02486.hp2 HG02523.hp2 HG02647.hp1 HG02886.hp2 HG02965.hp2 NA18948.hp2 NA18953.hp1 NA18965.hp1 NA19078.hp1 NA19089.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0044 a0001c0001t0124 others(5): Show a0001c0001t0009 a0001c0001t0044 a0001c0001t0124 a0001c0001t0141 a0001c0001t0171 a0001c0001t0172 a0002c0002t0063 a0002c0002t0160	a0001c0001t0009g0037 a0001c0001t0009g0038 a0001c0001t0009g0179 others(9): Show a0001c0001t0009g0037 a0001c0001t0009g0038 a0001c0001t0009g0179 a0001c0001t0009g0192 a0001c0001t0044g0252 a0001c0001t0044g0254 a0001c0001t0124g0256 a0001c0001t0141g0284 a0001c0001t0171g0312 a0001c0001t0172g0313 a0002c0002t0063g0163 a0002c0002t0160g0103	14	408	0.0343	7	c.45 others(18): Show c.4530_*4531insTATATAT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	4/4	4530		chr16	TogoVar
CMC2_chr16_80961448_81011885	80974506	A A	AGTGGAGG AGTGGAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG02145.hp2 HG02486.hp1 others(3): Show HG00639.hp2 HG02145.hp2 HG02486.hp1 HG02922.hp1 HG02922.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0097 a0002c0002t0098 a0002c0002t0099 others(3): Show a0002c0002t0097 a0002c0002t0098 a0002c0002t0099 a0002c0002t0100 a0002c0002t0101 a0002c0002t0102	a0002c0002t0097g0300 a0002c0002t0098g0302 a0002c0002t0099g0305 others(3): Show a0002c0002t0097g0300 a0002c0002t0098g0302 a0002c0002t0099g0305 a0002c0002t0100g0303 a0002c0002t0101g0304 a0002c0002t0102g0307	6	408	0.0147	7	c.15 others(18): Show c.1586_*1587insCCTCCAC	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	4/4	1586		chr16	TogoVar
CMC2_chr16_80961448_81011885	80978072	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02055.hp1 others(14): Show HG01109.hp1 HG01884.hp2 HG02055.hp1 HG02257.hp2 HG02559.hp2 HG02630.hp2 HG02723.hp1 HG02886.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03486.hp2 NA18522.hp1 NA18906.hp1 NA19240.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0030 a0002c0002t0031 others(5): Show a0002c0002t0006 a0002c0002t0030 a0002c0002t0031 a0002c0002t0032 a0002c0002t0054 a0002c0002t0064 a0002c0002t0104 a0002c0002t0105	a0002c0002t0006g0009 a0002c0002t0006g0063 a0002c0002t0006g0064 others(12): Show a0002c0002t0006g0009 a0002c0002t0006g0063 a0002c0002t0006g0064 a0002c0002t0006g0065 a0002c0002t0006g0066 a0002c0002t0030g0053 a0002c0002t0030g0054 a0002c0002t0031g0059 a0002c0002t0031g0306 a0002c0002t0032g0060 a0002c0002t0032g0061 a0002c0002t0054g0052 a0002c0002t0064g0062 a0002c0002t0104g0167 a0002c0002t0105g0166	17	408	0.0417	7	c.154 others(24): Show c.154-1900_154-1894dupTTTTTTT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	3/3			chr16	TogoVar
CMIP_chr16_81439808_81716762	81568039	G G	GTGTGTGT GTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01256.hp2 others(6): Show HG00639.hp1 HG00738.hp1 HG01256.hp2 HG02004.hp2 HG02132.hp2 HG02647.hp2 HG02895.hp1 HG03669.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0006t0001	a0001c0001t0001g0029 a0001c0001t0001g0053 a0001c0001t0001g0129 others(6): Show a0001c0001t0001g0029 a0001c0001t0001g0053 a0001c0001t0001g0129 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0003g0266 a0001c0001t0014g0061 a0001c0006t0001g0065	9	268	0.0336	7	c.301 others(26): Show c.301-39527_301-39526insGTGTGTT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81598968	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01243.hp2 HG02970.hp1 others(4): Show HG00621.hp2 HG01243.hp2 HG02970.hp1 NA18943.hp1 NA18984.hp2 NA19009.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0056 a0001c0001t0001g0121 a0001c0001t0001g0193 others(4): Show a0001c0001t0001g0056 a0001c0001t0001g0121 a0001c0001t0001g0193 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0223 a0001c0001t0007g0250	7	268	0.0261	7	c.301 others(24): Show c.301-8583_301-8577dupAAAAAAA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMPK1_chr1_47328790_47383839	47365633	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01891.hp1 HG02486.hp2 others(7): Show HG01167.hp1 HG01891.hp1 HG02486.hp2 HG02895.hp2 HG02970.hp1 HG02976.hp2 HG03225.hp2 HG06807.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012	a0001c0001t0006g0011 a0001c0001t0006g0098 a0001c0001t0006g0129 others(6): Show a0001c0001t0006g0011 a0001c0001t0006g0098 a0001c0001t0006g0129 a0001c0001t0006g0131 a0001c0001t0007g0095 a0001c0001t0007g0101 a0001c0001t0007g0128 a0001c0001t0012g0235 a0001c0001t0012g0274	10	364	0.0275	7	c.172 others(24): Show c.172-2825_172-2819dupAAAAAAA	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CMSS1_chr3_99812862_100186732	99957693	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01346.hp2 HG01981.hp2 others(2): Show HG00738.hp2 HG01346.hp2 HG01981.hp2 HG03669.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 others(2): Show a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0154	5	232	0.0216	7	c.64+ others(26): Show c.64+139672_64+139678dupTTTTTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100074675	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03195.hp2 HG03540.hp1 others(4): Show HG02602.hp2 HG03195.hp2 HG03540.hp1 HG03669.hp1 NA18943.hp1 NA18959.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0021	a0001c0001t0001g0037 a0001c0001t0001g0162 a0001c0001t0001g0170 others(4): Show a0001c0001t0001g0037 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0002g0013 a0001c0001t0002g0085 a0001c0001t0012g0036 a0001c0001t0021g0018	7	232	0.0302	7	c.65- others(24): Show c.65-72268_65-72262dupTTTTTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM4_chr16_66609750_66701743	66700907	T T	TAAAAAAA TAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02630.hp2 others(4): Show HG01109.hp2 HG02145.hp2 HG02630.hp2 NA18942.hp1 NA18968.hp1 NA18970.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0025 a0001c0002t0002g0033 a0001c0002t0002g0041 others(4): Show a0001c0002t0002g0025 a0001c0002t0002g0033 a0001c0002t0002g0041 a0001c0002t0002g0047 a0001c0003t0002g0005 a0001c0003t0002g0008 a0001c0003t0002g0009	7	320	0.0219	7	c.-43 others(18): Show c.-4383_-4382insTTTTTTT	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding		4165		chr16	TogoVar
CMTM8_chr3_32233680_32375321	32295455	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp1 HG01433.hp1 others(4): Show HG00323.hp2 HG01074.hp1 HG01433.hp1 HG02523.hp1 HG02965.hp2 NA18939.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0052 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0230 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0265	7	344	0.0204	7	c.147 others(26): Show c.147+56353_147+56359dupAAAAAAA	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01943.hp2 HG01978.hp2 others(5): Show HG01261.hp2 HG01943.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02148.hp2 HG02300.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0125 a0001c0001t0001g0155 a0001c0001t0001g0236 others(5): Show a0001c0001t0001g0125 a0001c0001t0001g0155 a0001c0001t0001g0236 a0001c0001t0001g0283 a0001c0001t0001g0291 a0001c0001t0001g0300 a0001c0001t0002g0211 a0001c0001t0002g0262	8	344	0.0233	7	c.148 others(26): Show c.148-38284_148-38278dupTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319075	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp2 HG01074.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0323 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0323	3	344	0.0087	7	c.148 others(26): Show c.148-38298_148-38297insATATATA	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3			chr3	TogoVar
CMYA5_chr5_79684836_79805222	79688942	C C	CAAAAAAA CAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02572.hp1 others(9): Show HG02109.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp1 HG03195.hp1 HG03239.hp1 HG03540.hp1 NA19043.hp2	a0002 a0003 a0005 others(6): Show a0002 a0003 a0005 a0007 a0012 a0015 a0041 a0046 a0081	a0002c0106 a0003c0003 a0005c0005 others(7): Show a0002c0106 a0003c0003 a0005c0005 a0007c0008 a0012c0015 a0015c0032 a0015c0038 a0041c0041 a0046c0098 a0081c0091	a0002c0106t0007 a0003c0003t0005 a0005c0005t0004 others(7): Show a0002c0106t0007 a0003c0003t0005 a0005c0005t0004 a0007c0008t0004 a0012c0015t0004 a0015c0032t0007 a0015c0038t0004 a0041c0041t0005 a0046c0098t0005 a0081c0091t0005	a0002c0106t0007g0029 a0003c0003t0005g0035 a0005c0005t0004g0017 others(8): Show a0002c0106t0007g0029 a0003c0003t0005g0035 a0005c0005t0004g0017 a0007c0008t0004g0030 a0007c0008t0004g0032 a0012c0015t0004g0033 a0015c0032t0007g0034 a0015c0038t0004g0260 a0041c0041t0005g0001 a0046c0098t0005g0259 a0081c0091t0005g0038	12	358	0.0335	7	c.-96 others(16): Show c.-966_-965insAAAAAAA	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding		893		chr5	TogoVar
CMYA5_chr5_79684836_79805222	79701090	C C	CCAAAAAA CCAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp2 HG02895.hp2 others(9): Show HG02559.hp1 HG02630.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03225.hp2 HG03516.hp1 HG03579.hp2 NA18906.hp2 NA19240.hp2 NA21309.hp1	a0003 a0012 a0013 others(3): Show a0003 a0012 a0013 a0015 a0023 a0029	a0003c0003 a0003c0034 a0012c0015 others(4): Show a0003c0003 a0003c0034 a0012c0015 a0013c0016 a0015c0032 a0023c0022 a0029c0044	a0003c0003t0005 a0003c0003t0008 a0003c0034t0012 others(6): Show a0003c0003t0005 a0003c0003t0008 a0003c0034t0012 a0012c0015t0004 a0013c0016t0007 a0015c0032t0007 a0023c0022t0008 a0029c0044t0004 a0029c0044t0012	a0003c0003t0005g0020 a0003c0003t0008g0018 a0003c0034t0012g0021 others(9): Show a0003c0003t0005g0020 a0003c0003t0008g0018 a0003c0034t0012g0021 a0012c0015t0004g0022 a0012c0015t0004g0023 a0012c0015t0004g0028 a0013c0016t0007g0024 a0015c0032t0007g0027 a0023c0022t0008g0016 a0023c0022t0008g0025 a0029c0044t0004g0026 a0029c0044t0012g0036	12	358	0.0335	7	c.149 others(26): Show c.149+11034_149+11035insCAAAAAA	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	1/12			chr5	TogoVar
CMYA5_chr5_79684836_79805222	79726909	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02559.hp2 others(16): Show HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02965.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 NA18906.hp1 NA18906.hp2 NA19240.hp1 NA21309.hp1	a0007 a0013 a0020 others(6): Show a0007 a0013 a0020 a0027 a0028 a0029 a0043 a0045 a0046	a0007c0008 a0013c0016 a0020c0025 others(6): Show a0007c0008 a0013c0016 a0020c0025 a0027c0042 a0028c0043 a0029c0044 a0043c0094 a0045c0099 a0046c0098	a0007c0008t0001 a0007c0008t0002 a0007c0008t0004 others(9): Show a0007c0008t0001 a0007c0008t0002 a0007c0008t0004 a0013c0016t0007 a0020c0025t0001 a0027c0042t0001 a0028c0043t0001 a0029c0044t0004 a0029c0044t0012 a0043c0094t0002 a0045c0099t0002 a0046c0098t0005	a0007c0008t0001g0138 a0007c0008t0001g0311 a0007c0008t0001g0340 others(16): Show a0007c0008t0001g0138 a0007c0008t0001g0311 a0007c0008t0001g0340 a0007c0008t0002g0179 a0007c0008t0002g0301 a0007c0008t0002g0308 a0007c0008t0004g0030 a0007c0008t0004g0032 a0013c0016t0007g0024 a0013c0016t0007g0315 a0020c0025t0001g0309 a0020c0025t0001g0344 a0027c0042t0001g0134 a0028c0043t0001g0267 a0029c0044t0004g0026 a0029c0044t0012g0036 a0043c0094t0002g0011 a0045c0099t0002g0316 a0046c0098t0005g0259	19	358	0.0531	7	c.150 others(24): Show c.150-1989_150-1983dupTTTTTTT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNBD1_chr8_86861415_87387859	86940132	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00558.hp1 others(31): Show HG00099.hp2 HG00140.hp2 HG00558.hp1 HG00558.hp2 HG01081.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02451.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG04204.hp2 NA18522.hp1 NA18941.hp2 NA18946.hp1 NA18952.hp1 NA18980.hp2 NA19002.hp2 NA19081.hp1 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0008t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(31): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0055 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0003g0111 a0001c0001t0004g0116 a0001c0008t0001g0147	34	152	0.2237	7	c.431 others(22): Show c.431+391_431+397dupTTTTTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	86951581	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01257.hp2 HG02486.hp1 others(6): Show HG00140.hp2 HG01257.hp2 HG02486.hp1 HG06807.hp1 NA18941.hp2 NA18946.hp2 NA18952.hp1 NA18988.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0081 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0081 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136	9	152	0.0592	7	c.431 others(26): Show c.431+11859_431+11865dupAAAAAAA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87036594	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02723.hp1 HG03225.hp1 others(2): Show HG01261.hp2 HG02723.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0088 a0001c0001t0001g0118 others(2): Show a0001c0001t0001g0038 a0001c0001t0001g0088 a0001c0001t0001g0118 a0001c0001t0003g0134 a0002c0002t0001g0090	5	152	0.0329	7	c.431 others(26): Show c.431+96859_431+96865dupAAAAAAA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87087245	A A	ACGTATAT ACGTATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03579.hp1 HG01070.hp1 HG03579.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0003 a0002c0002 a0004c0003	a0002c0002t0001 a0004c0003t0001 a0002c0002t0001 a0004c0003t0001	a0002c0002t0001g0083 a0004c0003t0001g0006 a0002c0002t0001g0083 a0004c0003t0001g0006	2	152	0.0132	7	c.432 others(28): Show c.432-118747_432-118741dupCGTATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87136711	T T	TAAATATA TAAATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01099.hp2 others(2): Show HG00099.hp2 HG00741.hp2 HG01099.hp2 HG01192.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 others(2): Show a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0110	5	152	0.0329	7	c.432 others(26): Show c.432-69282_432-69281insAAATATA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10			chr8	TogoVar
CNBD1_chr8_86861415_87387859	87136733	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02895.hp1 NA18939.hp1 others(2): Show HG00741.hp1 HG02895.hp1 NA18939.hp1 NA18952.hp1 NA19081.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0001 a0008c0011t0001 a0001c0001t0001 a0008c0011t0001	a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0129 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0129 a0001c0001t0001g0132 a0008c0011t0001g0036	5	152	0.0329	7	c.432 others(26): Show c.432-69260_432-69259insATATATA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10			chr8	TogoVar
CNBD1_chr8_86861415_87387859	87136780	T T	TAAATATA TAAATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03516.hp1 HG01070.hp1 HG03516.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0010 a0002c0002 a0007c0010	a0002c0002t0001 a0007c0010t0002 a0002c0002t0001 a0007c0010t0002	a0002c0002t0001g0083 a0007c0010t0002g0072 a0002c0002t0001g0083 a0007c0010t0002g0072	2	152	0.0132	7	c.432 others(26): Show c.432-69213_432-69212insAAATATA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10			chr8	TogoVar
CNBD1_chr8_86861415_87387859	87136969	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02486.hp1 HG02723.hp1 others(6): Show HG01167.hp2 HG02486.hp1 HG02723.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA19043.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0005 a0004c0003 a0001c0001 a0002c0005 a0004c0003	a0001c0001t0001 a0001c0001t0003 a0002c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0005t0001 a0004c0003t0002	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0081 others(6): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0081 a0001c0001t0001g0118 a0001c0001t0003g0134 a0002c0005t0001g0082 a0002c0005t0001g0084 a0002c0005t0001g0086 a0004c0003t0002g0007	9	152	0.0592	7	c.432 others(26): Show c.432-69019_432-69018insATTATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87136995	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG02622.hp2 HG01243.hp1 HG02257.hp1 HG02622.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0002 a0001c0001t0001 a0005c0007t0002	a0001c0001t0001g0019 a0001c0001t0001g0079 a0005c0007t0002g0144 a0001c0001t0001g0019 a0001c0001t0001g0079 a0005c0007t0002g0144	3	152	0.0197	7	c.432 others(26): Show c.432-68993_432-68992insATTATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87137083	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18980.hp2 NA18951.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0122 a0001c0001t0001g0127	2	152	0.0132	7	c.432 others(26): Show c.432-68905_432-68904insATTATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87256016	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01515.hp1 HG01256.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0135 a0001c0001t0001g0110 a0001c0001t0001g0135	2	152	0.0132	7	c.771 others(26): Show c.771+18904_771+18905insATATATA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10			chr8	TogoVar
CNBD1_chr8_86861415_87387859	87386549	A A	AGAGAAAT AGAGAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02809.hp1 HG03486.hp2 others(2): Show HG02622.hp2 HG02809.hp1 HG03486.hp2 HG03516.hp1 NA18522.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0007	a0001c0001 a0004c0003 a0005c0007 others(1): Show a0001c0001 a0004c0003 a0005c0007 a0007c0010	a0001c0001t0002 a0004c0003t0002 a0005c0007t0002 others(1): Show a0001c0001t0002 a0004c0003t0002 a0005c0007t0002 a0007c0010t0002	a0001c0001t0002g0003 a0001c0001t0002g0069 a0004c0003t0002g0007 others(2): Show a0001c0001t0002g0003 a0001c0001t0002g0069 a0004c0003t0002g0007 a0005c0007t0002g0144 a0007c0010t0002g0072	5	152	0.0329	7	c.39 others(18): Show c.3922_*3923insGAGAAAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding		3691		chr8	TogoVar
CNDP1_chr18_74529500_74592212	74587627	C C	CACCACTT CACCACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19065.hp1 NA19087.hp1 NA19058.hp2 NA19065.hp1 NA19087.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0019 a0001c0001 a0007c0019	a0001c0001t0002 a0001c0001t0018 a0007c0019t0029 a0001c0001t0002 a0001c0001t0018 a0007c0019t0029	a0001c0001t0002g0230 a0001c0001t0018g0140 a0007c0019t0029g0052 a0001c0001t0002g0230 a0001c0001t0018g0140 a0007c0019t0029g0052	3	390	0.0077	7	c.30 others(18): Show c.3065_*3066insACCACTT	CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding		416		chr18	TogoVar
CNGA3_chr2_98341456_98403601	98367169	T T	TTATTTTC TTATTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG01243.hp2 others(21): Show HG00597.hp1 HG00621.hp2 HG01243.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02723.hp1 HG02896.hp1 NA18939.hp1 NA18962.hp1 NA18964.hp1 NA18970.hp1 NA18973.hp1 NA18977.hp1 NA18986.hp2 NA18989.hp2 NA19011.hp1 NA19077.hp1 NA19085.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0003t0001 a0002c0004t0002	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(19): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0066 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0123 a0001c0001t0001g0144 a0001c0001t0002g0079 a0001c0001t0008g0101 a0001c0001t0009g0009 a0001c0003t0001g0095 a0001c0003t0001g0100 a0002c0004t0002g0098	24	338	0.0710	7	c.-37 others(24): Show c.-37-2769_-37-2768insATTTTCT	CNGA3	ENSG00000144191.12	transcript	ENST00000272602.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNGA3_chr2_98341456_98403601	98367170	T T	TATTTTCC TATTTTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG01071.hp1 others(14): Show HG00140.hp1 HG00323.hp1 HG01071.hp1 HG01255.hp1 HG01516.hp2 HG01517.hp1 HG02071.hp1 HG02135.hp1 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG03669.hp1 HG03710.hp1 HG03927.hp2 NA18965.hp1 NA19070.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0044 a0001c0001t0001g0049 others(13): Show a0001c0001t0001g0007 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0003t0001g0140	17	338	0.0503	7	c.-37 others(24): Show c.-37-2769_-37-2768insATTTTCC	CNGA3	ENSG00000144191.12	transcript	ENST00000272602.7	protein_coding	1/7			chr2	TogoVar
CNGB3_chr8_86569179_86748634	86735144	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(225): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18988.hp1 NA18988.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0012 a0013 a0014 a0015 a0016 a0018	a0001c0001 a0001c0015 a0001c0016 others(15): Show a0001c0001 a0001c0015 a0001c0016 a0002c0002 a0003c0004 a0003c0011 a0004c0003 a0005c0005 a0006c0006 a0007c0007 a0008c0008 a0009c0009 a0012c0020 a0013c0019 a0014c0018 a0015c0017 a0016c0014 a0018c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0015t0010 a0001c0016t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0010 a0003c0004t0002 a0003c0004t0007 a0003c0011t0002 a0004c0003t0001 a0004c0003t0003 a0005c0005t0002 a0005c0005t0007 a0006c0006t0001 a0007c0007t0001 a0007c0007t0004 a0008c0008t0001 a0009c0009t0002 a0012c0020t0001 a0013c0019t0002 a0014c0018t0001 a0015c0017t0001 a0016c0014t0001 a0018c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(224): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0214 a0001c0001t0004g0017 a0001c0001t0004g0113 a0001c0001t0004g0259 a0001c0001t0005g0074 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0008g0018 a0001c0001t0008g0031 a0001c0001t0009g0094 a0001c0001t0009g0286 a0001c0001t0011g0110 a0001c0015t0010g0145 a0001c0016t0001g0189 a0002c0002t0001g0016 a0002c0002t0001g0053 a0002c0002t0001g0057 a0002c0002t0001g0068 a0002c0002t0001g0078 a0002c0002t0001g0130 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0178 a0002c0002t0001g0188 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0216 a0002c0002t0001g0273 a0002c0002t0003g0199 a0002c0002t0004g0069 a0002c0002t0006g0177 a0002c0002t0006g0179 a0002c0002t0006g0180 a0002c0002t0006g0181 a0002c0002t0006g0182 a0002c0002t0010g0099 a0003c0004t0002g0024 a0003c0004t0002g0054 a0003c0004t0002g0066 a0003c0004t0002g0073 a0003c0004t0002g0076 a0003c0004t0002g0202 a0003c0004t0002g0242 a0003c0004t0002g0248 a0003c0004t0002g0249 a0003c0004t0002g0272 a0003c0004t0002g0278 a0003c0004t0002g0283 a0003c0004t0007g0230 a0003c0011t0002g0060 a0003c0011t0002g0187 a0004c0003t0001g0037 a0004c0003t0001g0039 a0004c0003t0001g0055 a0004c0003t0001g0059 a0004c0003t0001g0062 a0004c0003t0001g0072 a0004c0003t0001g0105 a0004c0003t0001g0119 a0004c0003t0001g0120 a0004c0003t0001g0122 a0004c0003t0001g0126 a0004c0003t0001g0131 a0004c0003t0001g0132 a0004c0003t0001g0136 a0004c0003t0001g0137 a0004c0003t0003g0124 a0005c0005t0002g0123 a0005c0005t0002g0129 a0005c0005t0002g0139 a0005c0005t0002g0140 a0005c0005t0002g0141 a0005c0005t0002g0144 a0005c0005t0007g0121 a0005c0005t0007g0127 a0006c0006t0001g0075 a0006c0006t0001g0098 a0006c0006t0001g0101 a0006c0006t0001g0210 a0007c0007t0001g0008 a0007c0007t0001g0010 a0007c0007t0001g0014 a0007c0007t0001g0015 a0007c0007t0004g0012 a0007c0007t0004g0013 a0008c0008t0001g0003 a0008c0008t0001g0004 a0008c0008t0001g0005 a0008c0008t0001g0006 a0008c0008t0001g0007 a0009c0009t0002g0102 a0012c0020t0001g0011 a0013c0019t0002g0009 a0014c0018t0001g0206 a0015c0017t0001g0096 a0016c0014t0001g0070 a0018c0022t0001g0287	228	288	0.7917	7	c.211 others(24): Show c.211+4504_211+4510dupAAAAAAA	CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	2/17			chr8	TogoVar
CNKSR2_chrX_21369418_21659689	21473745	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02965.hp1 others(1): Show HG02615.hp1 HG02647.hp1 HG02965.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0042 a0001c0003t0014 a0001c0003t0026 a0001c0001t0042 a0001c0003t0014 a0001c0003t0026	a0001c0001t0042g0008 a0001c0003t0014g0147 a0001c0003t0014g0149 others(1): Show a0001c0001t0042g0008 a0001c0003t0014g0147 a0001c0003t0014g0149 a0001c0003t0026g0148	4	163	0.0245	7	c.561 others(24): Show c.561+2951_561+2957dupTTTTTTT	CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding	5/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNKSR2_chrX_21369418_21659689	21495783	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02615.hp2 HG02886.hp1 others(5): Show HG02015.hp1 HG02615.hp2 HG02886.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03516.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0158 a0001c0001t0003g0061 a0001c0001t0004g0117 others(5): Show a0001c0001t0001g0158 a0001c0001t0003g0061 a0001c0001t0004g0117 a0001c0001t0006g0157 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0010g0152 a0001c0001t0010g0162	8	163	0.0491	7	c.682 others(24): Show c.682-1971_682-1965dupAAAAAAA	CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding	6/21		INFO_REALIGN_3_PRIME	chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)