Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CLIP1_chr12_122266469_122427669	122387547	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18942.hp2 NA19012.hp2 HG02698.hp1 NA18942.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0160 a0002c0002t0002g0039 a0002c0002t0002g0154 a0002c0002t0001g0160 a0002c0002t0002g0039 a0002c0002t0002g0154	3	234	0.0128	-26	c.-10 others(45): Show c.-106-7015_-106-6990delATATATATATATATATATATATATAT		CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	1/25						chr12	TogoVar
CLIP1_chr12_122266469_122427669	122387566	ATATATAT others(19): Show ATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01516.hp1 HG02258.hp1 others(8): Show HG01169.hp1 HG01516.hp1 HG02258.hp1 HG02273.hp2 HG02622.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG03491.hp1 NA18941.hp2 NA19085.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006	a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 others(4): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0002c0002t0001 a0003c0003t0001 a0004c0006t0001	a0001c0001t0005g0037 a0001c0001t0009g0036 a0001c0001t0010g0038 others(8): Show a0001c0001t0005g0037 a0001c0001t0009g0036 a0001c0001t0010g0038 a0001c0001t0014g0089 a0001c0001t0014g0090 a0002c0002t0001g0101 a0002c0002t0001g0115 a0002c0002t0001g0127 a0002c0002t0001g0137 a0003c0003t0001g0125 a0004c0006t0001g0110	11	234	0.0470	-26	c.-10 others(45): Show c.-106-7034_-106-7009delAATATATATATATATATATATATATA		CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	1/25						chr12	TogoVar
CLIP1_chr12_122266469_122427669	122387568	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02738.hp1 HG02027.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0091 a0001c0001t0008g0053 a0001c0001t0003g0091 a0001c0001t0008g0053	2	234	0.0086	-26	c.-10 others(45): Show c.-106-7036_-106-7011delAAAATATATATATATATATATATATA		CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	1/25						chr12	TogoVar
CLIP2_chr7_74284407_74410935	74310036	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(107): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02922.hp1 HG03017.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18945.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18979.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19064.hp2 NA19068.hp1 NA19079.hp2 NA19082.hp1 NA19085.hp2 NA20129.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0009 others(5): Show a0001c0001 a0001c0002 a0001c0009 a0001c0018 a0002c0006 a0002c0015 a0003c0011 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0009t0001 a0001c0018t0001 a0002c0006t0002 a0002c0015t0002 a0003c0011t0002 a0005c0012t0001	a0001c0001t0001g0047 a0001c0001t0001g0104 a0001c0001t0001g0138 others(107): Show a0001c0001t0001g0047 a0001c0001t0001g0104 a0001c0001t0001g0138 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0002g0272 a0001c0002t0001g0028 a0001c0002t0001g0081 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0109 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0170 a0001c0002t0001g0181 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0190 a0001c0002t0001g0197 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0209 a0001c0002t0001g0214 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0001g0234 a0001c0002t0001g0237 a0001c0002t0001g0239 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0266 a0001c0002t0001g0269 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0002g0083 a0001c0002t0002g0098 a0001c0002t0002g0103 a0001c0002t0002g0119 a0001c0002t0002g0140 a0001c0002t0002g0158 a0001c0002t0002g0232 a0001c0002t0002g0238 a0001c0002t0002g0241 a0001c0002t0002g0243 a0001c0002t0002g0249 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0257 a0001c0002t0002g0273 a0001c0002t0004g0071 a0001c0002t0005g0079 a0001c0002t0005g0127 a0001c0002t0005g0166 a0001c0002t0005g0168 a0001c0002t0005g0169 a0001c0002t0005g0240 a0001c0002t0015g0275 a0001c0002t0016g0230 a0001c0002t0018g0256 a0001c0009t0001g0082 a0001c0009t0001g0126 a0001c0018t0001g0095 a0002c0006t0002g0089 a0002c0006t0002g0215 a0002c0015t0002g0135 a0003c0011t0002g0242 a0005c0012t0001g0265	110	278	0.3957	-26	c.-67 others(43): Show c.-67-7427_-67-7402delAAAAAAAAAAAAAAAAAAAAAAAAAA		CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr7	TogoVar
CLIP2_chr7_74284407_74410935	74349468	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG02451.hp1 others(1): Show HG00639.hp1 HG01243.hp2 HG02451.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0019 a0001c0020 a0002c0003 a0001c0019 a0001c0020 a0002c0003	a0001c0019t0007 a0001c0020t0006 a0002c0003t0002 a0001c0019t0007 a0001c0020t0006 a0002c0003t0002	a0001c0019t0007g0142 a0001c0020t0006g0267 a0002c0003t0002g0049 others(1): Show a0001c0019t0007g0142 a0001c0020t0006g0267 a0002c0003t0002g0049 a0002c0003t0002g0050	4	278	0.0144	-26	c.679 others(43): Show c.679-4410_679-4385delGTATATATATATATATATATATATAT		CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr7	TogoVar
CLIP2_chr7_74284407_74410935	74349486	ATATATAT others(19): Show ATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	278	0.0036	-26	c.679 others(43): Show c.679-4391_679-4366delTATATATATATATATATATATATGTA		CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr7	TogoVar
CLIP3_chr19_36009660_36037873	36017389	TCACTTGA others(19): Show TCACTTGATGCACTTTTTTGGCTCCAA	T T	frameshift_variant frameshift_variant	HIGH	NA19076.hp2 NA19076.hp2	a0000 a0000	a0000c0009 a0000c0009	a0000c0009t0002 a0000c0009t0002	a0000c0009t0002g0091 a0000c0009t0002g0091	1	416	0.0024	-26	c.148 others(35): Show c.1487_1512delTTGGAGCCAAAAAAGTGCATCAAGTG	p.Val others(5): Show p.Val496fs	CLIP3	ENSG00000105270.15	transcript	ENST00000360535.9	protein_coding	12/14	1720/3350	1487/1644	496/547			chr19	TogoVar
CLMP_chr11_123064872_123200248	123106410	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGCGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02965.hp2 NA18522.hp1 HG02145.hp1 HG02965.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0013 a0001c0001t0012 a0001c0001t0013	a0001c0001t0012g0184 a0001c0001t0013g0127 a0001c0001t0013g0181 a0001c0001t0012g0184 a0001c0001t0013g0127 a0001c0001t0013g0181	3	254	0.0118	-26	c.29- others(41): Show c.29-8484_29-8459delGCGCGCGCGCGCACACACACACACAC		CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6						chr11	TogoVar
CLMP_chr11_123064872_123200248	123118975	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03041.hp2 HG03516.hp1 others(3): Show HG01168.hp2 HG03041.hp2 HG03516.hp1 NA18959.hp2 NA19077.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0020 a0001c0001t0041	a0001c0001t0003g0138 a0001c0001t0006g0154 a0001c0001t0006g0156 others(3): Show a0001c0001t0003g0138 a0001c0001t0006g0154 a0001c0001t0006g0156 a0001c0001t0008g0246 a0001c0001t0020g0249 a0001c0001t0041g0128	6	254	0.0236	-26	c.29- others(43): Show c.29-21049_29-21024delGAAAGAAAGAAAGAAAGAAAGAAAGA		CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6						chr11	TogoVar
CLMP_chr11_123064872_123200248	123119020	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG04204.hp1 HG01516.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0022 a0001c0001t0003g0135 a0001c0001t0001g0022 a0001c0001t0003g0135	2	254	0.0079	-26	c.29- others(43): Show c.29-21094_29-21069delGGAGAGAGAGAGAGAGAGAGAGAGAG		CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6						chr11	TogoVar
CLMP_chr11_123064872_123200248	123119026	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCTCCCTCTCC	T T	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18990.hp1 NA19083.hp2 NA18954.hp1 NA18990.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0085 a0001c0001t0004g0109 a0001c0001t0007g0171 a0001c0001t0004g0085 a0001c0001t0004g0109 a0001c0001t0007g0171	3	254	0.0118	-26	c.29- others(43): Show c.29-21100_29-21075delGGAGAGGGAGAGAGAGAGAGAGAGAG		CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6						chr11	TogoVar
CLN3_chr16_28472279_28497074	28496129	CCGGGACA others(19): Show CCGGGACAGCCTCAGGAGGGGACGAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	360	0.0028	-26	c.-42 others(37): Show c.-4212_-4187delCCTCGTCCCCTCCTGAGGCTGTCCCG		CLN3	ENSG00000188603.22	transcript	ENST00000636147.2	protein_coding					4056		chr16	TogoVar
CLOCK_chr4_55422903_55551909	55448597	CGCGCGTG others(19): Show CGCGCGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0178 a0001c0001t0010g0178	1	338	0.0030	-26	c.153 others(43): Show c.1539+156_1539+181delACACACACACACACACACACACGCGC		CLOCK	ENSG00000134852.15	transcript	ENST00000513440.6	protein_coding	18/22						chr4	TogoVar
CLSPN_chr1_35727112_35774978	35770438	TATATATA others(19): Show TATATATATATATATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(120): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG01074.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG02004.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03540.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18980.hp1 NA18982.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19062.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0009 a0010 a0015	a0001c0001 a0003c0003 a0004c0004 others(3): Show a0001c0001 a0003c0003 a0004c0004 a0009c0010 a0010c0011 a0015c0020	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0003c0003t0004 a0003c0003t0013 a0003c0003t0014 a0004c0004t0004 a0009c0010t0001 a0010c0011t0001 a0015c0020t0004	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(95): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0120 a0001c0001t0012g0055 a0001c0001t0012g0057 a0001c0001t0012g0067 a0001c0001t0012g0077 a0001c0001t0015g0090 a0001c0001t0015g0091 a0001c0001t0015g0108 a0001c0001t0021g0059 a0001c0001t0026g0098 a0001c0001t0027g0113 a0001c0001t0028g0105 a0001c0001t0029g0047 a0001c0001t0030g0073 a0001c0001t0031g0085 a0001c0001t0032g0112 a0003c0003t0004g0198 a0003c0003t0004g0199 a0003c0003t0013g0189 a0003c0003t0013g0190 a0003c0003t0013g0191 a0003c0003t0014g0195 a0003c0003t0014g0196 a0003c0003t0014g0197 a0004c0004t0004g0024 a0004c0004t0004g0034 a0004c0004t0004g0035 a0004c0004t0004g0200 a0004c0004t0004g0201 a0004c0004t0004g0202 a0004c0004t0004g0203 a0009c0010t0001g0016 a0010c0011t0001g0065 a0010c0011t0001g0066 a0015c0020t0004g0069	123	296	0.4155	-26	c.-59 others(35): Show c.-594_-569delGTATATATATATATATATATATATAT		CLSPN	ENSG00000092853.14	transcript	ENST00000318121.8	protein_coding					461		chr1	TogoVar
CLSPN_chr1_35727112_35774978	35770442	TATATATA others(19): Show TATATATATATATATATATATACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03130.hp1 HG06807.hp2 HG02258.hp1 HG03130.hp1 HG06807.hp2	a0006 a0016 a0006 a0016	a0006c0006 a0016c0017 a0006c0006 a0016c0017	a0006c0006t0009 a0016c0017t0003 a0006c0006t0009 a0016c0017t0003	a0006c0006t0009g0029 a0006c0006t0009g0031 a0016c0017t0003g0043 a0006c0006t0009g0029 a0006c0006t0009g0031 a0016c0017t0003g0043	3	296	0.0101	-26	c.-59 others(35): Show c.-598_-573delGTGTGTATATATATATATATATATAT		CLSPN	ENSG00000092853.14	transcript	ENST00000318121.8	protein_coding					465		chr1	TogoVar
CLSTN2_chr3_139930185_140582397	140135111	CACACACA others(19): Show CACACACATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01243.hp2 others(2): Show HG01167.hp1 HG01169.hp2 HG01243.hp2 HG02615.hp2 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0001c0014 a0002c0002 others(1): Show a0001c0003 a0001c0014 a0002c0002 a0004c0013	a0001c0003t0012 a0001c0014t0032 a0002c0002t0028 others(1): Show a0001c0003t0012 a0001c0014t0032 a0002c0002t0028 a0004c0013t0008	a0001c0003t0012g0052 a0001c0003t0012g0053 a0001c0014t0032g0028 others(2): Show a0001c0003t0012g0052 a0001c0003t0012g0053 a0001c0014t0032g0028 a0002c0002t0028g0005 a0004c0013t0008g0099	5	110	0.0455	-26	c.110 others(45): Show c.110-40838_110-40813delCACACATATATATATATATATATATA		CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140264375	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0017 a0002c0004t0017	a0002c0004t0017g0061 a0002c0004t0017g0061	1	110	0.0091	-26	c.232 others(45): Show c.232+88330_232+88355delTATATATATATATATATATATATATA		CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
CLUH_chr17_2684387_2716764	2691941	CCCCGCCC others(19): Show CCCCGCCCCCGCCCCGCCACGCCCCCG	C C	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0240 a0001c0005t0001g0240	1	420	0.0024	-26	c.365 others(41): Show c.3654+37_3655-47delCGGGGGCGTGGCGGGGCGGGGGCGGG		CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	23/25						chr17	TogoVar
CLUH_chr17_2684387_2716764	2698290	GGGCCGTG others(19): Show GGGCCGTGACCCGGTAGCCGCGGTAAT	G G	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0001 a0018c0026t0001	a0018c0026t0001g0063 a0018c0026t0001g0063	1	420	0.0024	-26	c.154 others(35): Show c.1541_1566delATTACCGCGGCTACCGGGTCACGGCC	p.Asp others(5): Show p.Asp514fs	CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	10/26	1669/5357	1541/4047	514/1348			chr17	TogoVar
CLVS1_chr8_61282970_61506629	61477948	TTCCCTCT others(19): Show TTCCCTCTACACACTGCTTTGAATGTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 NA18522.hp2 others(1): Show HG02055.hp1 HG02109.hp2 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0019 a0001c0001t0028 a0001c0001t0007 a0001c0001t0019 a0001c0001t0028	a0001c0001t0007g0008 a0001c0001t0007g0077 a0001c0001t0019g0075 others(1): Show a0001c0001t0007g0008 a0001c0001t0007g0077 a0001c0001t0019g0075 a0001c0001t0028g0176	4	184	0.0217	-26	c.977 others(45): Show c.977+19431_977+19456delTGTCCCTCTACACACTGCTTTGAATG		CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
CMAS_chr12_22041218_22070668	22053536	TACACCAA others(19): Show TACACCAAAGACTATAAGTCATTAAGA	T T	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0271 a0001c0002t0001g0271	1	450	0.0022	-26	c.261 others(43): Show c.261-1612_261-1587delACACCAAAGACTATAAGTCATTAAGA		CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding	1/7						chr12	TogoVar
CMC2_chr16_80961448_81011885	80965194	AAAAAAAA others(19): Show AAAAAAAACATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG02970.hp1 others(1): Show HG01884.hp2 HG02559.hp2 HG02970.hp1 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0009 a0002c0002t0006g0065 a0002c0002t0006g0009 a0002c0002t0006g0065	4	408	0.0098	-26	c.10 others(39): Show c.10873_*10898delATATATATATATATATATGTTTTTTT		CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding					1253		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965196	AAAAAACA others(19): Show AAAAAACATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0064 a0002c0002t0006g0064	1	408	0.0025	-26	c.10 others(39): Show c.10871_*10896delATATATATATATATATATATGTTTTT		CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding					1251		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965227	ATATATAT others(19): Show ATATATATATATATATATGTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0077 a0002c0002t0036g0077	1	408	0.0025	-26	c.10 others(39): Show c.10840_*10865delAAAAAAAACATATATATATATATATA		CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding					1220		chr16	TogoVar
CMC2_chr16_80961448_81011885	81008232	CTTTACCC others(19): Show CTTTACCCGGAATAAATCATCTGACGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0002 a0002c0002t0003g0002	1	408	0.0025	-26	c.-15 others(37): Show c.-1560_-1535delACGTCAGATGATTTATTCCGGGTAAA		CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding					1348		chr16	TogoVar
CMKLR2_chr2_206170316_206218371	206173011	AGGGAGAC others(19): Show AGGGAGACGGGAGAGGGAGAGGGAGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	322	0.0031	-26	c.31 others(37): Show c.3143_*3168delGTCTCCCTCTCCCTCTCCCGTCTCCC		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2304		chr2	TogoVar
CMSS1_chr3_99812862_100186732	99983025	TATGAGGG others(19): Show TATGAGGGAAGTCATTGTTCTGTACCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02970.hp1 HG02257.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0055 a0001c0001t0010g0056 a0001c0001t0010g0055 a0001c0001t0010g0056	2	232	0.0086	-26	c.65- others(45): Show c.65-163945_65-163920delGAGGGAAGTCATTGTTCTGTACCCAT		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99983460	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02071.hp2 HG02895.hp1 HG02015.hp2 HG02071.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0005g0084 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0005g0084	3	232	0.0129	-26	c.65- others(45): Show c.65-163511_65-163486delGTGTATATATATATATATATATATAT		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99983462	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp1 HG03130.hp2 HG02647.hp1 HG02717.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0144	3	232	0.0129	-26	c.65- others(45): Show c.65-163509_65-163484delGTATATATATATATATATATATATAT		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100115575	GTCTCTCT others(19): Show GTCTCTCTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01981.hp2 NA19043.hp1 HG01433.hp1 HG01981.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0048 a0001c0001t0002g0146 a0001c0001t0002g0148	3	232	0.0129	-26	c.65- others(43): Show c.65-31370_65-31345delCTCTCTCTCTCTCTCTCTCTCTCTCT		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM7_chr3_32386853_32460528	32412480	GACACACA others(19): Show GACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01361.hp1 HG01106.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0062 a0001c0001t0003g0061 a0001c0001t0001g0062 a0001c0001t0003g0061	2	368	0.0054	-26	c.159 others(45): Show c.159+20450_159+20475delACACACACACACACACACACACACAC		CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNBD1_chr8_86861415_87387859	87255995	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG04204.hp1 HG02897.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0058 a0001c0001t0001g0029 a0001c0001t0001g0058	2	152	0.0132	-26	c.771 others(45): Show c.771+18885_771+18910delATATATATATATATATATATTTTTTT		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87281541	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00741.hp1 others(6): Show HG00099.hp1 HG00140.hp1 HG00741.hp1 HG01175.hp2 HG01261.hp1 HG02040.hp2 HG02647.hp1 HG03688.hp2 NA19081.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0004c0003t0001 a0001c0001t0001 a0004c0003t0001	a0001c0001t0001g0018 a0001c0001t0001g0046 a0001c0001t0001g0056 others(6): Show a0001c0001t0001g0018 a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0151 a0001c0001t0001g0152 a0004c0003t0001g0008	9	152	0.0592	-26	c.772 others(43): Show c.772-3101_772-3076delTATATATATATATATATATATATATA		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87342173	TGAGGCAG others(19): Show TGAGGCAGGAGAATGGCCAGAACCCAG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	152	0.0066	-26	c.104 others(45): Show c.1043-9504_1043-9479delGAGAATGGCCAGAACCCAGGAGGCAG		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBP_chr3_129162827_129188896	129172665	CAGACAGA others(19): Show CAGACAGACAGACAGACAGACAGACAG	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03098.hp2 HG04228.hp1 HG02074.hp1 HG03098.hp2 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0038 a0001c0002t0005 a0001c0002t0038	a0001c0002t0005g0343 a0001c0002t0005g0357 a0001c0002t0038g0366 a0001c0002t0005g0343 a0001c0002t0005g0357 a0001c0002t0038g0366	3	430	0.0070	-26	c.-14 others(41): Show c.-14-920_-14-895delCTGTCTGTCTGTCTGTCTGTCTGTCT		CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4						chr3	TogoVar
CNGB3_chr8_86569179_86748634	86613877	CATATATA others(19): Show CATATATAATATAAAAATTATATATGT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0102 a0009c0009t0002g0102	1	288	0.0035	-26	c.157 others(45): Show c.1579-2232_1579-2207delACATATATAATTTTTATATTATATAT		CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	13/17						chr8	TogoVar
CNGB3_chr8_86569179_86748634	86635841	TATATATA others(19): Show TATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0177 a0002c0002t0006g0177	1	288	0.0035	-26	c.117 others(45): Show c.1179-2974_1179-2949delGTGTATATATATATATATATATATAT		CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	10/17						chr8	TogoVar
CNKSR2_chrX_21369418_21659689	21409228	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp1 HG03098.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0041 a0001c0001t0009 a0001c0001t0041	a0001c0001t0009g0013 a0001c0001t0041g0009 a0001c0001t0009g0013 a0001c0001t0041g0009	2	163	0.0123	-26	c.65- others(43): Show c.65-17243_65-17218delATATATATATATATATATATATATAT		CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding	1/21					INFO_REALIGN_3_PRIME	chrX	TogoVar
CNKSR3_chr6_154382515_154515685	154443427	AAATCGCC others(19): Show AAATCGCCCTGTGTCCCCTGGTGGCAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(103): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01167.hp2 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18967.hp2 NA18970.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19011.hp2 NA19043.hp1 NA19054.hp1 NA19062.hp1 NA19084.hp1 NA20129.hp1 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0010	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(72): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0013 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0022 a0001c0002t0025 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0038 a0001c0002t0039 a0001c0002t0041 a0001c0002t0047 a0001c0002t0057 a0001c0002t0058 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0065 a0001c0002t0066 a0001c0002t0068 a0001c0002t0069 a0001c0002t0070 a0001c0002t0072 a0001c0002t0083 a0001c0002t0094 a0001c0002t0097 a0001c0002t0098 a0001c0002t0106 a0001c0002t0107 a0001c0002t0113 a0001c0002t0114 a0001c0002t0118 a0001c0002t0120 a0001c0002t0121 a0001c0002t0126 a0001c0002t0127 a0001c0002t0128 a0001c0002t0129 a0001c0002t0130 a0001c0002t0131 a0001c0002t0136 a0001c0002t0137 a0001c0002t0138 a0001c0002t0139 a0001c0002t0147 a0001c0002t0149 a0001c0002t0152 a0001c0002t0158 a0001c0002t0159 a0001c0002t0162 a0001c0002t0166 a0001c0002t0170 a0001c0002t0171 a0001c0002t0172 a0001c0002t0173 a0001c0002t0177 a0001c0002t0178 a0001c0002t0188 a0001c0002t0193 a0001c0002t0195 a0001c0002t0198 a0001c0003t0006 a0001c0004t0020 a0001c0004t0040 a0001c0004t0151 a0001c0010t0003	a0001c0002t0001g0171 a0001c0002t0001g0229 a0001c0002t0001g0296 others(103): Show a0001c0002t0001g0171 a0001c0002t0001g0229 a0001c0002t0001g0296 a0001c0002t0002g0111 a0001c0002t0002g0197 a0001c0002t0002g0212 a0001c0002t0002g0217 a0001c0002t0003g0257 a0001c0002t0005g0076 a0001c0002t0005g0120 a0001c0002t0005g0135 a0001c0002t0005g0200 a0001c0002t0005g0221 a0001c0002t0005g0240 a0001c0002t0005g0285 a0001c0002t0005g0287 a0001c0002t0005g0299 a0001c0002t0007g0271 a0001c0002t0008g0243 a0001c0002t0009g0017 a0001c0002t0009g0018 a0001c0002t0009g0036 a0001c0002t0013g0230 a0001c0002t0013g0231 a0001c0002t0013g0233 a0001c0002t0018g0098 a0001c0002t0018g0301 a0001c0002t0018g0303 a0001c0002t0019g0132 a0001c0002t0019g0166 a0001c0002t0019g0313 a0001c0002t0020g0175 a0001c0002t0020g0176 a0001c0002t0022g0251 a0001c0002t0022g0288 a0001c0002t0022g0289 a0001c0002t0025g0009 a0001c0002t0033g0066 a0001c0002t0033g0190 a0001c0002t0034g0100 a0001c0002t0034g0101 a0001c0002t0035g0193 a0001c0002t0035g0209 a0001c0002t0036g0079 a0001c0002t0036g0143 a0001c0002t0038g0059 a0001c0002t0038g0177 a0001c0002t0039g0069 a0001c0002t0039g0152 a0001c0002t0041g0054 a0001c0002t0047g0004 a0001c0002t0057g0039 a0001c0002t0058g0025 a0001c0002t0060g0047 a0001c0002t0061g0034 a0001c0002t0062g0011 a0001c0002t0065g0015 a0001c0002t0066g0043 a0001c0002t0068g0012 a0001c0002t0069g0016 a0001c0002t0070g0044 a0001c0002t0072g0008 a0001c0002t0083g0280 a0001c0002t0094g0270 a0001c0002t0097g0116 a0001c0002t0098g0139 a0001c0002t0106g0137 a0001c0002t0107g0248 a0001c0002t0113g0330 a0001c0002t0114g0218 a0001c0002t0118g0168 a0001c0002t0120g0237 a0001c0002t0121g0322 a0001c0002t0126g0302 a0001c0002t0127g0148 a0001c0002t0128g0252 a0001c0002t0129g0141 a0001c0002t0130g0133 a0001c0002t0131g0165 a0001c0002t0136g0306 a0001c0002t0137g0320 a0001c0002t0138g0214 a0001c0002t0139g0070 a0001c0002t0147g0063 a0001c0002t0149g0072 a0001c0002t0152g0277 a0001c0002t0158g0169 a0001c0002t0159g0272 a0001c0002t0162g0297 a0001c0002t0166g0073 a0001c0002t0170g0077 a0001c0002t0171g0119 a0001c0002t0172g0227 a0001c0002t0173g0174 a0001c0002t0177g0331 a0001c0002t0178g0058 a0001c0002t0188g0324 a0001c0002t0193g0075 a0001c0002t0195g0337 a0001c0002t0198g0340 a0001c0003t0006g0082 a0001c0004t0020g0114 a0001c0004t0040g0090 a0001c0004t0040g0091 a0001c0004t0151g0278 a0001c0010t0003g0319	106	342	0.3099	-26	c.217 others(43): Show c.217-1163_217-1138delCTGCCACCAGGGGACACAGGGCGATT		CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	2/12						chr6	TogoVar
CNKSR3_chr6_154382515_154515685	154451477	ACACACAC others(19): Show ACACACACACGCACACACGCATACATG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18522.hp1 HG02818.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0184 a0001c0001t0015 a0001c0001t0184	a0001c0001t0015g0083 a0001c0001t0184g0084 a0001c0001t0015g0083 a0001c0001t0184g0084	2	342	0.0059	-26	c.53- others(41): Show c.53-1245_53-1220delCATGTATGCGTGTGTGCGTGTGTGTG		CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	1/12						chr6	TogoVar
CNN1_chr19_11533851_11555323	11553582	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	392	0.0026	-26	c.37 others(37): Show c.3788_*3813delACACACACACACACACACACACACAC		CNN1	ENSG00000130176.8	transcript	ENST00000252456.7	protein_coding					3260		chr19	TogoVar
CNNM4_chr2_96755902_96816874	96765024	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp2 NA20129.hp1 HG01891.hp2 HG02622.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0092 a0001c0001t0006g0076 a0001c0001t0006g0077 a0001c0001t0005g0092 a0001c0001t0006g0076 a0001c0001t0006g0077	3	270	0.0111	-26	c.140 others(45): Show c.1402+2640_1402+2665delTTTTTTTTTTTTTTTTTTTTTTTTTT		CNNM4	ENSG00000158158.12	transcript	ENST00000377075.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
CNOT11_chr2_101247886_101275316	101269887	TGCACACA others(19): Show TGCACACAGCTCTTAACTCCTCATGAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18979.hp1 NA19054.hp2 NA18979.hp1 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	2	378	0.0053	-26	c.49 others(35): Show c.495_*520delCATGAGGCACACAGCTCTTAACTCCT		CNOT11	ENSG00000158435.8	transcript	ENST00000289382.8	protein_coding	7/7				495	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNOT4_chr7_135356795_135515102	135495684	AAAAAAAA others(19): Show AAAAAAAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	362	0.0028	-26	c.-93 others(45): Show c.-93+14179_-93+14204delCTTTCTTTCTTTCTTTCTTTTTTTTT		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNOT4_chr7_135356795_135515102	135495688	AAAAAAGA others(19): Show AAAAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02080.hp2 HG03516.hp2 others(5): Show HG02071.hp2 HG02080.hp2 HG03516.hp2 HG04115.hp1 NA18947.hp1 NA18978.hp1 NA18998.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0228 a0001c0001t0001g0265 a0001c0001t0001g0266 others(5): Show a0001c0001t0001g0228 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0285 a0001c0001t0002g0295	8	362	0.0221	-26	c.-93 others(45): Show c.-93+14175_-93+14200delCTTTCTTTCTTTCTTTCTTTCTTTTT		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNOT6L_chr4_77708387_77824368	77768470	AATAAATA others(19): Show AATAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18974.hp1 NA19090.hp1 NA18942.hp1 NA18974.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0228 a0001c0001t0001g0323 a0001c0001t0001g0218 a0001c0001t0001g0228 a0001c0001t0001g0323	3	328	0.0092	-26	c.400 others(43): Show c.400+4585_400+4610delATATATATATATATATATATATTTAT		CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	4/11						chr4	TogoVar
CNOT6L_chr4_77708387_77824368	77768474	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0075 a0001c0001t0017g0075	1	328	0.0031	-26	c.400 others(43): Show c.400+4581_400+4606delATATATATATATATATATATATATAT		CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	4/11						chr4	TogoVar
CNOT6_chr5_180489379_180583358	180539551	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp1 others(66): Show HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01243.hp2 HG01261.hp2 HG01361.hp2 HG01884.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02074.hp2 HG02135.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02922.hp1 HG03017.hp1 HG03491.hp1 HG03579.hp2 HG03669.hp2 HG04204.hp1 HG04204.hp2 NA18939.hp2 NA18941.hp1 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18991.hp2 NA18995.hp1 NA19004.hp1 NA19004.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19070.hp2 NA19080.hp1 NA19086.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0042 a0001c0001t0043 a0001c0001t0048 a0001c0002t0004 a0002c0004t0004	a0001c0001t0001g0001 a0001c0001t0001g0070 a0001c0001t0001g0105 others(66): Show a0001c0001t0001g0001 a0001c0001t0001g0070 a0001c0001t0001g0105 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0260 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0328 a0001c0001t0002g0020 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0003g0180 a0001c0001t0003g0211 a0001c0001t0008g0228 a0001c0001t0008g0276 a0001c0001t0008g0285 a0001c0001t0008g0288 a0001c0001t0008g0298 a0001c0001t0008g0303 a0001c0001t0009g0177 a0001c0001t0009g0178 a0001c0001t0009g0183 a0001c0001t0012g0112 a0001c0001t0012g0264 a0001c0001t0012g0321 a0001c0001t0013g0103 a0001c0001t0013g0104 a0001c0001t0013g0271 a0001c0001t0028g0233 a0001c0001t0029g0234 a0001c0001t0029g0289 a0001c0001t0033g0031 a0001c0001t0034g0001 a0001c0001t0042g0075 a0001c0001t0043g0204 a0001c0001t0048g0311 a0001c0002t0004g0038 a0001c0002t0004g0053 a0002c0004t0004g0252	69	334	0.2066	-26	c.112 others(45): Show c.112+10194_112+10219delTTTTTTTTTTTTTTTTTTTTTTTTTT		CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CNOT9_chr2_218563839_218602080	218583227	GTGTGTGT others(19): Show GTGTGTGTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02155.hp2 HG03490.hp2 others(2): Show HG00639.hp2 HG02155.hp2 HG03490.hp2 NA18978.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0002g0063 others(2): Show a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0002g0063 a0001c0001t0002g0075 a0001c0001t0005g0058	5	322	0.0155	-26	c.320 others(41): Show c.320+143_320+168delGTGTGTCTCTCTCTCTCTCTCTCTCT		CNOT9	ENSG00000144580.15	transcript	ENST00000273064.11	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
CNOT9_chr2_218563839_218602080	218583229	GTGTGTCT others(19): Show GTGTGTCTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00621.hp2 others(43): Show HG00280.hp2 HG00438.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01081.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01943.hp1 HG02074.hp1 HG02083.hp2 HG02165.hp1 HG02257.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03710.hp1 HG03710.hp2 HG04204.hp2 HG06807.hp2 NA18944.hp2 NA18951.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18971.hp2 NA18973.hp1 NA18989.hp1 NA19002.hp2 NA19010.hp1 NA19012.hp2 NA19064.hp1 NA19065.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0031 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0045	a0001c0001t0002g0005 a0001c0001t0002g0053 a0001c0001t0002g0061 others(37): Show a0001c0001t0002g0005 a0001c0001t0002g0053 a0001c0001t0002g0061 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0003g0005 a0001c0001t0003g0024 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0078 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0113 a0001c0001t0005g0025 a0001c0001t0005g0047 a0001c0001t0008g0057 a0001c0001t0008g0106 a0001c0001t0009g0037 a0001c0001t0015g0037 a0001c0001t0015g0162 a0001c0001t0015g0163 a0001c0001t0016g0064 a0001c0001t0016g0086 a0001c0001t0031g0081 a0001c0001t0034g0023 a0001c0001t0036g0112 a0001c0001t0037g0023 a0001c0001t0045g0096	46	322	0.1429	-26	c.320 others(41): Show c.320+145_320+170delGTGTCTCTCTCTCTCTCTCTCTCTCT		CNOT9	ENSG00000144580.15	transcript	ENST00000273064.11	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr2	TogoVar

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