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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⚠️ 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
CDK5RAP2_chr9_120383875_120585167	120584958	G G	GCACGATC others(6): Show GCACGATCTCAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02647.hp1 others(6): Show HG01891.hp1 HG02109.hp1 HG02647.hp1 HG02895.hp2 HG02896.hp1 HG03130.hp2 HG03225.hp1 HG03486.hp2 HG03579.hp2	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0009 a0010	a0001c0001 a0004c0004 a0006c0006 others(2): Show a0001c0001 a0004c0004 a0006c0006 a0009c0011 a0010c0013	a0001c0001t0001 a0004c0004t0001 a0006c0006t0001 others(2): Show a0001c0001t0001 a0004c0004t0001 a0006c0006t0001 a0009c0011t0001 a0010c0013t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0004c0004t0001g0005 a0006c0006t0001g0009 a0006c0006t0001g0013 a0006c0006t0001g0014 a0009c0011t0001g0169 a0010c0013t0001g0003	9	232	0.0388	13	c.-49 others(24): Show c.-4981_-4980insAGCTGAGATCGTG	CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding		4792		chr9	TogoVar
CDK5RAP3_chr17_47966113_47986781	47966942	C C	CTTTTTTC others(6): Show CTTTTTTCTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 NA19088.hp2 HG00423.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0081 a0001c0001t0002g0001 a0001c0001t0001g0081 a0001c0001t0002g0001	2	394	0.0051	13	c.-42 others(24): Show c.-4205_-4204insTTTTTTCTTTTTT	CDK5RAP3	ENSG00000108465.15	transcript	ENST00000338399.9	protein_coding		4170		chr17	TogoVar
CDK5RAP3_chr17_47966113_47986781	47969580	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02258.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	2	394	0.0051	13	c.-15 others(24): Show c.-1567_-1566insAAAAAAAAAAAAG	CDK5RAP3	ENSG00000108465.15	transcript	ENST00000338399.9	protein_coding		1532		chr17	TogoVar
CDK8_chr13_26249129_26410238	26361784	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	328	0.0031	13	c.456 others(30): Show c.456+7921_456+7933dupTTTTTTTTTTTTT	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDK8_chr13_26249129_26410238	26363327	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp2 others(140): Show HG00140.hp1 HG00323.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18961.hp2 NA18962.hp1 NA18969.hp1 NA18971.hp1 NA18975.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18991.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19086.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(136): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0103 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0314 a0001c0001t0001g0320 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0004g0088 a0001c0001t0004g0090 a0001c0001t0007g0232	143	328	0.4360	13	c.456 others(30): Show c.456+9449_456+9461dupAAAAAAAAAAAAA	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDKAL1_chr6_20529457_21237404	20603768	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0023 a0001c0006t0006g0023	1	196	0.0051	13	c.287 others(32): Show c.287-45511_287-45499dupTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20613249	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0161 a0001c0002t0005g0161	1	196	0.0051	13	c.287 others(32): Show c.287-36013_287-36001dupTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20721725	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0050 a0001c0005t0050	a0001c0005t0050g0088 a0001c0005t0050g0088	1	196	0.0051	13	c.372 others(32): Show c.372-17781_372-17769dupTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20756906	T T	TCCTTCCC others(6): Show TCCTTCCCTCCTTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02129.hp1 HG02258.hp1 others(8): Show HG01106.hp2 HG02129.hp1 HG02258.hp1 HG02723.hp2 HG02897.hp2 HG03017.hp2 HG03491.hp2 NA18983.hp1 NA19002.hp2 NA19005.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0002t0002 a0001c0002t0043 a0001c0005t0021 a0002c0007t0036	a0001c0001t0001g0065 a0001c0001t0001g0176 a0001c0001t0002g0124 others(8): Show a0001c0001t0001g0065 a0001c0001t0001g0176 a0001c0001t0002g0124 a0001c0001t0003g0149 a0001c0001t0006g0011 a0001c0001t0008g0123 a0001c0001t0014g0072 a0001c0002t0002g0049 a0001c0002t0043g0190 a0001c0005t0021g0026 a0002c0007t0036g0024	11	196	0.0561	13	c.469 others(30): Show c.469-1683_469-1682insCTCCTTCCCTTCC	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20784412	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0152 a0001c0001t0024g0152	1	196	0.0051	13	c.638 others(30): Show c.638+3164_638+3176dupTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20799040	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0015 a0001c0004t0007g0015	1	196	0.0051	13	c.638 others(32): Show c.638+17792_638+17804dupTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20848279	G G	GTTTTTTT others(6): Show GTTTTTTTGGTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp1 HG01109.hp2 others(36): Show HG00099.hp1 HG00673.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp2 HG01361.hp1 HG01496.hp1 HG01934.hp1 HG02129.hp2 HG02132.hp1 HG02273.hp1 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02818.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA18953.hp2 NA18957.hp2 NA18978.hp1 NA18990.hp1 NA19005.hp1 NA19043.hp2 NA19082.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0012 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0041 a0001c0002t0047 a0001c0004t0001 a0001c0004t0007 a0001c0004t0018 a0001c0005t0006 a0001c0006t0006 a0001c0008t0011 a0001c0012t0008 a0002c0003t0004 a0002c0003t0010 a0002c0007t0029	a0001c0001t0001g0071 a0001c0001t0001g0096 a0001c0001t0001g0104 others(36): Show a0001c0001t0001g0071 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0002g0139 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0003g0082 a0001c0001t0003g0156 a0001c0001t0004g0002 a0001c0001t0004g0031 a0001c0001t0004g0097 a0001c0001t0006g0179 a0001c0001t0008g0016 a0001c0001t0008g0159 a0001c0001t0023g0169 a0001c0001t0024g0158 a0001c0001t0025g0021 a0001c0001t0026g0001 a0001c0001t0027g0180 a0001c0002t0001g0174 a0001c0002t0002g0090 a0001c0002t0005g0161 a0001c0002t0007g0154 a0001c0002t0007g0187 a0001c0002t0041g0012 a0001c0002t0047g0146 a0001c0004t0001g0101 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0007g0015 a0001c0004t0018g0017 a0001c0005t0006g0085 a0001c0006t0006g0023 a0001c0008t0011g0068 a0001c0008t0011g0069 a0001c0012t0008g0129 a0002c0003t0004g0132 a0002c0003t0010g0134 a0002c0007t0029g0014	39	196	0.1990	13	c.742 others(30): Show c.742+2108_742+2109insGGTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20848283	T T	TTTTGGTT others(6): Show TTTTGGTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00544.hp1 others(75): Show HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01943.hp1 HG01978.hp1 HG02027.hp2 HG02056.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02300.hp1 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp2 NA18906.hp1 NA18948.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18970.hp1 NA18970.hp2 NA18978.hp2 NA18983.hp1 NA18990.hp2 NA18992.hp2 NA19002.hp2 NA19007.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0035 a0001c0001t0042 a0001c0001t0046 a0001c0001t0048 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0002t0020 a0001c0002t0033 a0001c0002t0040 a0001c0002t0043 a0001c0002t0045 a0001c0005t0001 a0001c0005t0007 a0001c0005t0021 a0001c0006t0002 a0001c0006t0003 a0001c0006t0006 a0001c0008t0004 a0001c0008t0011 a0001c0009t0004 a0001c0010t0002 a0001c0010t0017 a0001c0011t0004 a0002c0003t0003 a0002c0003t0005 a0002c0007t0030 a0002c0007t0036	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0018 others(75): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0002g0042 a0001c0001t0002g0124 a0001c0001t0002g0141 a0001c0001t0002g0155 a0001c0001t0003g0149 a0001c0001t0003g0162 a0001c0001t0005g0189 a0001c0001t0006g0011 a0001c0001t0008g0054 a0001c0001t0008g0123 a0001c0001t0010g0051 a0001c0001t0014g0067 a0001c0001t0015g0095 a0001c0001t0015g0186 a0001c0001t0015g0191 a0001c0001t0017g0112 a0001c0001t0019g0145 a0001c0001t0019g0147 a0001c0001t0021g0177 a0001c0001t0023g0115 a0001c0001t0024g0152 a0001c0001t0026g0058 a0001c0001t0027g0120 a0001c0001t0035g0160 a0001c0001t0042g0142 a0001c0001t0046g0077 a0001c0001t0048g0143 a0001c0002t0001g0108 a0001c0002t0002g0049 a0001c0002t0002g0063 a0001c0002t0002g0195 a0001c0002t0003g0010 a0001c0002t0003g0055 a0001c0002t0003g0066 a0001c0002t0003g0140 a0001c0002t0003g0165 a0001c0002t0003g0170 a0001c0002t0003g0184 a0001c0002t0005g0175 a0001c0002t0008g0040 a0001c0002t0012g0076 a0001c0002t0012g0151 a0001c0002t0013g0118 a0001c0002t0013g0122 a0001c0002t0020g0116 a0001c0002t0033g0193 a0001c0002t0040g0125 a0001c0002t0043g0190 a0001c0002t0045g0153 a0001c0005t0001g0009 a0001c0005t0007g0084 a0001c0005t0021g0026 a0001c0006t0002g0166 a0001c0006t0003g0029 a0001c0006t0003g0030 a0001c0006t0006g0111 a0001c0008t0004g0105 a0001c0008t0011g0181 a0001c0009t0004g0019 a0001c0009t0004g0027 a0001c0009t0004g0028 a0001c0010t0002g0106 a0001c0010t0017g0194 a0001c0011t0004g0130 a0002c0003t0003g0107 a0002c0003t0005g0121 a0002c0007t0030g0025 a0002c0007t0036g0024	78	196	0.3980	13	c.742 others(30): Show c.742+2108_742+2109insGGTTTTTTTGTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21072554	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG02818.hp2 others(1): Show HG02647.hp1 HG02723.hp1 HG02818.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0004 a0001c0001t0026 a0001c0002t0007 others(1): Show a0001c0001t0004 a0001c0001t0026 a0001c0002t0007 a0001c0008t0011	a0001c0001t0004g0002 a0001c0001t0026g0001 a0001c0002t0007g0187 others(1): Show a0001c0001t0004g0002 a0001c0001t0026g0001 a0001c0002t0007g0187 a0001c0008t0011g0068	4	196	0.0204	13	c.123 others(32): Show c.1236+7340_1236+7352dupAAAAAAAAAAAAA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL1_chr14_50321265_50401881	50358636	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01943.hp2 HG02109.hp2 HG01109.hp2 HG01943.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0043 a0001c0001t0129 a0001c0001t0022 a0001c0001t0043 a0001c0001t0129	a0001c0001t0022g0275 a0001c0001t0043g0274 a0001c0001t0129g0264 a0001c0001t0022g0275 a0001c0001t0043g0274 a0001c0001t0129g0264	3	306	0.0098	13	c.290 others(28): Show c.290+379_290+391dupAAAAAAAAAAAAA	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	3/9			chr14	TogoVar
CDKL1_chr14_50321265_50401881	50380802	C C	CTTTGTTT others(6): Show CTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02145.hp1 HG02622.hp2 others(6): Show HG00733.hp2 HG02145.hp1 HG02622.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0035 a0001c0001t0043 others(6): Show a0001c0001t0002 a0001c0001t0035 a0001c0001t0043 a0001c0001t0050 a0001c0001t0094 a0001c0001t0097 a0001c0001t0104 a0001c0001t0116 a0002c0002t0042	a0001c0001t0002g0220 a0001c0001t0035g0228 a0001c0001t0043g0293 others(6): Show a0001c0001t0002g0220 a0001c0001t0035g0228 a0001c0001t0043g0293 a0001c0001t0050g0107 a0001c0001t0094g0062 a0001c0001t0097g0059 a0001c0001t0104g0175 a0001c0001t0116g0219 a0002c0002t0042g0283	9	306	0.0294	13	c.168 others(32): Show c.168+14898_168+14899insAAAAAAAAACAAA	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	2/9			chr14	TogoVar
CDKL5_chrX_18420608_18645196	18435071	G G	GAACAACT others(6): Show GAACAACTTACTGA	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0009	1	192	0.0052	13	c.-16 others(32): Show c.-163+9377_-163+9389dupAACAACTTACTGA	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18626661	C C	CTCTCTCT others(6): Show CTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0117 a0001c0001t0016g0117	1	192	0.0052	13	c.249 others(32): Show c.2496+1414_2496+1415insTCTCTCTCTCTCT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	17/17			chrX	TogoVar
CDKN1A_chr6_36673714_36692332	36681271	T T	TCTCTCTT others(6): Show TCTCTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02132.hp2 HG04115.hp2 others(2): Show HG02071.hp1 HG02132.hp2 HG04115.hp2 NA18970.hp1 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0002c0002t0002 a0001c0001t0001 a0001c0001t0011 a0002c0002t0002	a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0365 others(2): Show a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0365 a0001c0001t0011g0320 a0002c0002t0002g0139	5	454	0.0110	13	c.-6+ others(28): Show c.-6+2475_-6+2476insCTCTTTCTTTCCT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681332	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	454	0.0022	13	c.-6+ others(28): Show c.-6+2537_-6+2538insCTTTCTTTCTTTT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681334	T T	TTCTTTCT others(6): Show TTCTTTCTTCTTTC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	454	0.0022	13	c.-6+ others(28): Show c.-6+2537_-6+2538insCTTTCTTCTTTCT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681335	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	454	0.0022	13	c.-6+ others(28): Show c.-6+2537_-6+2538insCTTTCTTTCTTTC	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2			chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681351	T T	TTTCTTTT others(6): Show TTTCTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03927.hp2 HG02071.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0348 a0001c0001t0011g0320 a0001c0001t0001g0348 a0001c0001t0011g0320	2	454	0.0044	13	c.-6+ others(28): Show c.-6+2555_-6+2556insCTTTTTCTTTCTT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681360	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02976.hp2 others(2): Show HG02451.hp1 HG02559.hp1 HG02976.hp2 HG06807.hp1 NA18965.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0001c0001t0006 a0004c0010t0001 a0001c0001t0001 a0001c0001t0006 a0004c0010t0001	a0001c0001t0001g0255 a0001c0001t0001g0296 a0001c0001t0006g0312 others(2): Show a0001c0001t0001g0255 a0001c0001t0001g0296 a0001c0001t0006g0312 a0001c0001t0006g0313 a0004c0010t0001g0297	5	454	0.0110	13	c.-6+ others(28): Show c.-6+2565_-6+2566insCTTTCTTTCTTTT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681361	T T	TTTCTTTC others(6): Show TTTCTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	454	0.0022	13	c.-6+ others(28): Show c.-6+2565_-6+2566insCTTTCTTTTTCTT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1B_chr12_12712368_12727369	12723287	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02293.hp2 HG03098.hp1 others(10): Show HG01109.hp1 HG02293.hp2 HG03098.hp1 HG03834.hp2 NA18963.hp1 NA18991.hp1 NA19007.hp1 NA19011.hp1 NA19058.hp1 NA19060.hp2 NA19074.hp1 NA19085.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0003t0003 a0001c0003t0004 a0002c0002t0004	a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0004g0005 others(5): Show a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0004g0005 a0001c0001t0004g0022 a0001c0001t0009g0005 a0001c0003t0003g0005 a0001c0003t0004g0005 a0002c0002t0004g0033	13	442	0.0294	13	c.22 others(24): Show c.2260_*2261insTTTTTTTTTTTTT	CDKN1B	ENSG00000111276.12	transcript	ENST00000228872.9	protein_coding		919		chr12	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01361.hp2 HG02896.hp1 others(7): Show HG00733.hp2 HG01361.hp2 HG02896.hp1 HG03098.hp1 HG03490.hp2 HG03654.hp1 HG03654.hp2 NA18971.hp1 NA19004.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0005c0005t0003	a0001c0001t0001g0077 a0001c0001t0001g0137 a0001c0001t0001g0140 others(3): Show a0001c0001t0001g0077 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0002g0111 a0001c0001t0003g0007 a0005c0005t0003g0076	10	416	0.0240	13	c.151 others(28): Show c.151-380_151-368dupAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01361.hp2 HG02896.hp1 others(7): Show HG00733.hp2 HG01361.hp2 HG02896.hp1 HG03098.hp1 HG03490.hp2 HG03654.hp1 HG03654.hp2 NA18971.hp1 NA19004.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0365 others(6): Show a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0365 a0001c0001t0002g0302 a0001c0001t0003g0005 a0001c0001t0003g0060 a0001c0001t0003g0234 a0001c0001t0003g0238 a0001c0001t0010g0237	10	404	0.0248	13	c.194 others(28): Show c.194-380_194-368dupAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990651	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	404	0.0025	13	c.193 others(30): Show c.193+3487_193+3488insCTCTCTCTCTCTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2D_chr19_10561460_10573979	10570547	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01975.hp2 others(4): Show HG01167.hp2 HG01169.hp1 HG01975.hp2 HG02145.hp2 NA18948.hp1 NA18986.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0011	7	410	0.0171	13	c.-18 others(24): Show c.-1895_-1894insTTTTTTTTTTTTT	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding		1569		chr19	TogoVar
CDO1_chr5_115799733_115821659	115804617	C C	CAACAAAA others(6): Show CAACAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	372	0.0027	13	c.81 others(22): Show c.815_*816insTTTTTTTTTTGTT	CDO1	ENSG00000129596.5	transcript	ENST00000250535.5	protein_coding		115		chr5	TogoVar
CDON_chr11_125951821_126067866	125958592	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0070 a0001c0001t0058g0070	1	334	0.0030	13	c.23 others(24): Show c.2349_*2350insCACACACACACAC	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	20/20	2349		chr11	TogoVar
CDON_chr11_125951821_126067866	125971411	T T	TAAATAAA others(6): Show TAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01884.hp2 HG02630.hp1 others(4): Show HG01123.hp2 HG01884.hp2 HG02630.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03516.hp2	a0002 a0009 a0020 a0002 a0009 a0020	a0002c0014 a0009c0016 a0020c0050 a0002c0014 a0009c0016 a0020c0050	a0002c0014t0012 a0002c0014t0027 a0009c0016t0034 others(3): Show a0002c0014t0012 a0002c0014t0027 a0009c0016t0034 a0009c0016t0071 a0009c0016t0104 a0020c0050t0057	a0002c0014t0012g0013 a0002c0014t0027g0132 a0009c0016t0034g0267 others(4): Show a0002c0014t0012g0013 a0002c0014t0027g0132 a0009c0016t0034g0267 a0009c0016t0034g0275 a0009c0016t0071g0133 a0009c0016t0104g0319 a0020c0050t0057g0031	7	334	0.0210	13	c.335 others(32): Show c.3356+6892_3356+6893insTATTTATTTATTT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19			chr11	TogoVar
CDON_chr11_125951821_126067866	125973018	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02895.hp1 HG02896.hp1 others(6): Show HG01496.hp1 HG02895.hp1 HG02896.hp1 HG02976.hp1 HG02976.hp2 NA18942.hp2 NA18951.hp1 NA18957.hp1 NA19003.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0012 a0018 a0025	a0001c0004 a0002c0002 a0002c0013 others(4): Show a0001c0004 a0002c0002 a0002c0013 a0003c0026 a0012c0060 a0018c0036 a0025c0057	a0001c0004t0003 a0001c0004t0032 a0002c0002t0009 others(6): Show a0001c0004t0003 a0001c0004t0032 a0002c0002t0009 a0002c0002t0066 a0002c0013t0010 a0003c0026t0003 a0012c0060t0017 a0018c0036t0026 a0025c0057t0103	a0001c0004t0003g0169 a0001c0004t0032g0050 a0002c0002t0009g0284 others(6): Show a0001c0004t0003g0169 a0001c0004t0032g0050 a0002c0002t0009g0284 a0002c0002t0066g0010 a0002c0013t0010g0222 a0003c0026t0003g0229 a0012c0060t0017g0038 a0018c0036t0026g0145 a0025c0057t0103g0321	9	334	0.0270	13	c.335 others(32): Show c.3356+5273_3356+5285dupAAAAAAAAAAAAA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19			chr11	TogoVar
CDON_chr11_125951821_126067866	125981970	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0110 a0009c0016t0110	a0009c0016t0110g0328 a0009c0016t0110g0328	1	334	0.0030	13	c.299 others(30): Show c.2996-654_2996-642dupAAAAAAAAAAAAA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	16/19			chr11	TogoVar
CDON_chr11_125951821_126067866	126003822	A A	AAAAAATA others(6): Show AAAAAATAAATTAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02698.hp1 HG03491.hp2 HG02622.hp1 HG02698.hp1 HG03491.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0012 a0001c0009 a0002c0012	a0001c0009t0039 a0002c0012t0040 a0002c0012t0076 a0001c0009t0039 a0002c0012t0040 a0002c0012t0076	a0001c0009t0039g0137 a0002c0012t0040g0214 a0002c0012t0076g0253 a0001c0009t0039g0137 a0002c0012t0040g0214 a0002c0012t0076g0253	3	334	0.0090	13	c.202 others(28): Show c.2026+79_2026+80insATAATTTATTTTT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	10/19			chr11	TogoVar
CDR2L_chr17_74982632_75010800	74989410	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	352	0.0028	13	c.79+ others(28): Show c.79+1288_79+1289insCACACACACACAC	CDR2L	ENSG00000109089.7	transcript	ENST00000337231.5	protein_coding	1/4			chr17	TogoVar
CDRT4_chr17_15431015_15472621	15435748	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01891.hp1 HG01256.hp2 HG01258.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0002 a0001c0001t0006g0049 a0001c0001t0001g0002 a0001c0001t0006g0049	3	430	0.0070	13	c.20 others(24): Show c.2024_*2025insTTTTTTTTTTTTT	CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding		266		chr17	TogoVar
CDS1_chr4_84578127_84656334	84601172	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	384	0.0026	13	c.118 others(30): Show c.118-3068_118-3056dupAAAAAAAAAAAAA	CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDS2_chr20_5122008_5202887	5135446	C C	CTGTTTGT others(6): Show CTGTTTGTGTGTCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp1 HG03516.hp1 HG02280.hp2 HG02965.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0027 a0001c0001t0023g0307 a0001c0001t0023g0308 a0001c0001t0001g0027 a0001c0001t0023g0307 a0001c0001t0023g0308	3	348	0.0086	13	c.57+ others(28): Show c.57+8299_57+8311dupGTTTGTGTGTCAT	CDS2	ENSG00000101290.14	transcript	ENST00000460006.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDS2_chr20_5122008_5202887	5145822	G G	GGTTTTTT others(6): Show GGTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG01071.hp2 others(19): Show HG00099.hp1 HG00408.hp1 HG01071.hp2 HG01099.hp2 HG01256.hp1 HG01258.hp2 HG02135.hp2 HG02258.hp1 HG02615.hp2 HG03017.hp1 HG03239.hp2 NA18942.hp2 NA18944.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18980.hp1 NA18987.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0010 a0001c0002t0017 others(4): Show a0001c0002t0004 a0001c0002t0010 a0001c0002t0017 a0001c0002t0049 a0001c0002t0050 a0001c0002t0052 a0001c0002t0054	a0001c0002t0004g0064 a0001c0002t0004g0088 a0001c0002t0004g0110 others(19): Show a0001c0002t0004g0064 a0001c0002t0004g0088 a0001c0002t0004g0110 a0001c0002t0004g0111 a0001c0002t0004g0112 a0001c0002t0004g0114 a0001c0002t0004g0116 a0001c0002t0004g0216 a0001c0002t0004g0217 a0001c0002t0004g0218 a0001c0002t0004g0239 a0001c0002t0004g0286 a0001c0002t0004g0287 a0001c0002t0010g0109 a0001c0002t0010g0214 a0001c0002t0010g0289 a0001c0002t0017g0037 a0001c0002t0017g0042 a0001c0002t0049g0236 a0001c0002t0050g0235 a0001c0002t0052g0336 a0001c0002t0054g0234	22	348	0.0632	13	c.57+ others(30): Show c.57+18673_57+18674insGTTTTTTTTTTTT	CDS2	ENSG00000101290.14	transcript	ENST00000460006.6	protein_coding	1/12			chr20	TogoVar
CDSN_chr6_31110087_31125446	31118837	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0041 a0002c0002t0002g0041	2	446	0.0045	13	c.86- others(28): Show c.86-1309_86-1308insAAAAAAAAAAAAA	CDSN	ENSG00000204539.4	transcript	ENST00000376288.3	protein_coding	1/1			chr6	TogoVar
CDV3_chr3_133568686_133595261	133576841	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00733.hp2 others(38): Show HG00438.hp1 HG00597.hp1 HG00733.hp2 HG00738.hp2 HG01109.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01433.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG02004.hp2 HG02040.hp1 HG02148.hp2 HG02258.hp1 HG02273.hp1 HG02738.hp2 HG02818.hp2 HG02965.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03710.hp2 HG03831.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19079.hp2 NA19085.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0001g0046 a0001c0001t0001g0047 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0126 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0002g0074 a0001c0001t0003g0020 a0001c0001t0003g0037 a0001c0001t0003g0078 a0001c0001t0003g0091 a0001c0001t0004g0025 a0001c0001t0004g0095	41	386	0.1062	13	c.317 others(30): Show c.317+1737_317+1749dupTTTTTTTTTTTTT	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CDV3_chr3_133568686_133595261	133594387	T T	TCCATGGT others(6): Show TCCATGGTTCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	386	0.0026	13	c.63 others(24): Show c.6341_*6342insCCATGGTTCTCAA	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding		4127		chr3	TogoVar
CDV3_chr3_133568686_133595261	133594433	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG00738.hp1 others(8): Show HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01167.hp1 HG02004.hp1 HG03579.hp2 HG03710.hp2 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020	a0001c0001t0002g0061 a0001c0001t0003g0005 a0001c0001t0003g0008 others(6): Show a0001c0001t0002g0061 a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0011 a0001c0001t0003g0020 a0001c0001t0003g0093 a0001c0001t0013g0055 a0001c0001t0019g0003 a0001c0001t0020g0006	11	386	0.0285	13	c.63 others(24): Show c.6387_*6388insAAAAAAAAAAAAA	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding		4173		chr3	TogoVar
CDYL_chr6_4771404_4960544	4959971	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02572.hp1 HG02723.hp2 others(4): Show HG01109.hp1 HG02572.hp1 HG02723.hp2 HG03490.hp2 HG03492.hp2 HG04199.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0057 others(4): Show a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0057 a0001c0001t0002g0126 a0001c0001t0002g0137 a0001c0005t0002g0164 a0001c0005t0002g0167	7	250	0.0280	13	c.59 others(24): Show c.5915_*5916insAAAAAAAAAAAAA	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding		4428		chr6	TogoVar
CEACAM19_chr19_44666482_44689355	44668129	T T	TTTATATA others(6): Show TTTATATAATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0061 a0001c0004t0001g0061	1	390	0.0026	13	c.-38 others(24): Show c.-3803_-3802insTTATATAATATAA	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		3352		chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44528158	T T	TTTTCTTT others(6): Show TTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03471.hp1 HG03490.hp1 others(2): Show HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03688.hp1 HG03710.hp2	a0002 a0005 a0009 a0002 a0005 a0009	a0002c0002 a0005c0005 a0009c0007 a0002c0002 a0005c0005 a0009c0007	a0002c0002t0001 a0005c0005t0001 a0009c0007t0001 a0002c0002t0001 a0005c0005t0001 a0009c0007t0001	a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 others(2): Show a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0005c0005t0001g0284 a0009c0007t0001g0042	5	438	0.0114	13	c.52+ others(28): Show c.52+1287_52+1299dupGGAAAGAAAGAAA	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	1/11			chr19	TogoVar
CEACAM5_chr19_41703626_41735433	41728786	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0006 a0005c0005t0006	a0005c0005t0006g0055 a0005c0005t0006g0055	1	374	0.0027	13	c.37 others(28): Show c.37-391_*37-379dupAAAAAAAAAAAAA	CEACAM5	ENSG00000105388.17	transcript	ENST00000221992.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEACAM8_chr19_42575243_42599924	42581918	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03540.hp1 HG03225.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	2	314	0.0064	13	c.41 others(28): Show c.41-566_*41-565insATATATATATATA	CEACAM8	ENSG00000124469.12	transcript	ENST00000244336.10	protein_coding	5/5			chr19	TogoVar

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