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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Select column to sort.

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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
CDK6_chr7_92599921_92841573	92672242	C C	CACACACA others(7): Show CACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp2 HG02723.hp1 others(3): Show HG02258.hp2 HG02630.hp2 HG02723.hp1 HG02818.hp2 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0043 a0001c0001t0051	a0001c0001t0002g0096 a0001c0001t0006g0085 a0001c0001t0006g0086 others(3): Show a0001c0001t0002g0096 a0001c0001t0006g0085 a0001c0001t0006g0086 a0001c0001t0010g0090 a0001c0001t0043g0101 a0001c0001t0051g0111	6	124	0.0484	14	c.538 others(29): Show c.538-708_538-707insATGTGTGTGTGTGT	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	4/7			chr7	TogoVar
CDK6_chr7_92599921_92841573	92711552	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	124	0.0081	14	c.537 others(33): Show c.537+14060_537+14073dupAAAAAAAAAAAAAA	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	4/7			chr7	TogoVar
CDK6_chr7_92599921_92841573	92778946	T T	TATATATA others(7): Show TATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG01243.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0048 a0001c0001t0020 a0001c0001t0048	a0001c0001t0020g0034 a0001c0001t0048g0113 a0001c0001t0020g0034 a0001c0001t0048g0113	2	124	0.0161	14	c.234 others(31): Show c.234-4116_234-4115insTTATATATATATAT	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	2/7			chr7	TogoVar
CDK7_chr5_69229886_69282430	69261524	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02738.hp2 HG03491.hp1 others(10): Show HG02257.hp1 HG02738.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 NA18612.hp2 NA18943.hp1 NA18968.hp2 NA18989.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0096 a0001c0001t0001g0098 others(9): Show a0001c0001t0001g0008 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0174	13	375	0.0347	14	c.528 others(29): Show c.528-680_528-679insGTGTGTGTGTGTAT	CDK7	ENSG00000134058.12	transcript	ENST00000256443.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDK8_chr13_26249129_26410238	26268256	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	328	0.0031	14	c.128 others(33): Show c.128+13527_128+13540dupCACACACACACACA	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDK8_chr13_26249129_26410238	26339752	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	328	0.0031	14	c.204 others(31): Show c.204+2111_204+2112insTATATATATATATA	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDK8_chr13_26249129_26410238	26359261	T T	TTTCAGTT others(7): Show TTTCAGTTTTACAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(313): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(309): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0002g0037 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0005g0140 a0001c0001t0006g0017 a0001c0001t0007g0232 a0001c0001t0008g0229 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033	316	328	0.9634	14	c.456 others(31): Show c.456+5381_456+5382insTTCAGTTTTACAGA	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding	4/12			chr13	TogoVar
CDK8_chr13_26249129_26410238	26361784	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	328	0.0031	14	c.456 others(31): Show c.456+7920_456+7933dupTTTTTTTTTTTTTT	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(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00558.hp2 others(44): Show HG00280.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01123.hp1 HG01175.hp2 HG01943.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02602.hp1 HG02630.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02922.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03579.hp1 HG03654.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18943.hp1 NA18949.hp2 NA18952.hp2 NA18965.hp2 NA18977.hp2 NA18981.hp2 NA18995.hp2 NA19043.hp2 NA19079.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0014 a0001c0001t0001g0076 a0001c0001t0001g0077 others(44): Show a0001c0001t0001g0014 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0102 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0315 a0001c0001t0002g0037 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0004g0089 a0001c0001t0006g0017 a0001c0001t0008g0229 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033	47	328	0.1433	14	c.456 others(31): Show c.456+9448_456+9461dupAAAAAAAAAAAAAA	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDK8_chr13_26249129_26410238	26408766	A A	AACACACA others(7): Show AACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG02738.hp2 HG02976.hp2 others(1): Show HG01361.hp1 HG02738.hp2 HG02976.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 others(1): Show a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0193	4	328	0.0122	14	c.46 others(25): Show c.4685_*4686insACACACACACACAC	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding		3529		chr13	TogoVar
CDKAL1_chr6_20529457_21237404	20603768	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0084 a0001c0005t0007g0084	1	196	0.0051	14	c.287 others(33): Show c.287-45512_287-45499dupTTTTTTTTTTTTTT	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(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19005.hp1 NA18957.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0172 a0001c0002t0001g0174 a0001c0001t0002g0172 a0001c0002t0001g0174	2	196	0.0102	14	c.287 others(33): Show c.287-36014_287-36001dupTTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20616839	C C	CCACACAC others(7): Show CCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02723.hp1 HG03017.hp2 others(4): Show HG01167.hp1 HG02723.hp1 HG03017.hp2 HG03471.hp2 HG03491.hp1 HG03516.hp2 NA19085.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0016 a0001c0001 a0001c0002 a0004c0016	a0001c0001t0001 a0001c0002t0002 a0001c0002t0006 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0049 a0004c0016t0001	a0001c0001t0001g0065 a0001c0002t0002g0063 a0001c0002t0006g0052 others(4): Show a0001c0001t0001g0065 a0001c0002t0002g0063 a0001c0002t0006g0052 a0001c0002t0007g0187 a0001c0002t0011g0131 a0001c0002t0049g0059 a0004c0016t0001g0185	7	196	0.0357	14	c.287 others(33): Show c.287-32424_287-32411dupACACACACACACAC	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20642567	A A	ACTGTTGT others(7): Show ACTGTTGTTTTTCAC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0118 a0001c0002t0013g0118	1	196	0.0051	14	c.287 others(31): Show c.287-6724_287-6711dupTGTTGTTTTTCACC	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20694046	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0131 a0001c0002t0011g0131	1	196	0.0051	14	c.371 others(33): Show c.371+44680_371+44681insATATGTGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20721725	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG01192.hp1 others(3): Show HG00140.hp2 HG01109.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0009 a0001c0002t0003 a0001c0005t0006 others(2): Show a0001c0001t0009 a0001c0002t0003 a0001c0005t0006 a0001c0005t0014 a0001c0005t0016	a0001c0001t0009g0087 a0001c0001t0009g0089 a0001c0002t0003g0150 others(3): Show a0001c0001t0009g0087 a0001c0001t0009g0089 a0001c0002t0003g0150 a0001c0005t0006g0085 a0001c0005t0014g0093 a0001c0005t0016g0086	6	196	0.0306	14	c.372 others(33): Show c.372-17782_372-17769dupTTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20848279	G G	GTTTTTTT others(7): Show GTTTTTTTGGTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02615.hp1 others(6): Show HG01891.hp1 HG02055.hp1 HG02615.hp1 HG03516.hp2 HG04204.hp1 NA18966.hp1 NA18994.hp1 NA19010.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0013 a0002c0003 a0003c0015	a0001c0001t0007 a0001c0001t0016 a0001c0001t0032 others(6): Show a0001c0001t0007 a0001c0001t0016 a0001c0001t0032 a0001c0002t0003 a0001c0002t0011 a0001c0005t0004 a0001c0013t0004 a0002c0003t0002 a0003c0015t0010	a0001c0001t0007g0164 a0001c0001t0016g0178 a0001c0001t0032g0196 others(6): Show a0001c0001t0007g0164 a0001c0001t0016g0178 a0001c0001t0032g0196 a0001c0002t0003g0074 a0001c0002t0011g0131 a0001c0005t0004g0033 a0001c0013t0004g0006 a0002c0003t0002g0013 a0003c0015t0010g0171	9	196	0.0459	14	c.742 others(31): Show c.742+2108_742+2109insGGTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20848282	T T	TTTTTGGT others(7): Show TTTTTGGTTTTTTTG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19082.hp1 NA19005.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0014 a0002c0007t0002 a0001c0001t0014 a0002c0007t0002	a0001c0001t0014g0072 a0002c0007t0002g0048 a0001c0001t0014g0072 a0002c0007t0002g0048	2	196	0.0102	14	c.742 others(31): Show c.742+2108_742+2109insGGTTTTTTTGTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20913116	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0058 a0001c0001t0026g0058	1	196	0.0051	14	c.743 others(33): Show c.743-42273_743-42260dupCACACACACACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20913158	C C	CACACACA others(7): Show CACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0137	1	196	0.0051	14	c.743 others(33): Show c.743-42260_743-42259insCACACACACACATA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20988182	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp1 HG03130.hp2 others(8): Show HG00621.hp2 HG00642.hp1 HG03130.hp2 HG03225.hp1 HG03704.hp1 NA18950.hp2 NA18970.hp1 NA18983.hp2 NA18994.hp2 NA19007.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0001t0035 a0001c0002t0003 a0002c0003t0005	a0001c0001t0002g0155 a0001c0001t0004g0002 a0001c0001t0019g0145 others(8): Show a0001c0001t0002g0155 a0001c0001t0004g0002 a0001c0001t0019g0145 a0001c0001t0019g0147 a0001c0001t0035g0160 a0001c0002t0003g0008 a0001c0002t0003g0020 a0001c0002t0003g0032 a0001c0002t0003g0073 a0001c0002t0003g0114 a0002c0003t0005g0053	11	196	0.0561	14	c.910 others(33): Show c.910-12021_910-12008dupGTGTGTGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003371	T T	TATATATA others(7): Show TATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18957.hp1 HG03579.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0014 a0001c0001t0015	a0001c0001t0014g0067 a0001c0001t0015g0191 a0001c0001t0014g0067 a0001c0001t0015g0191	2	196	0.0102	14	c.105 others(33): Show c.1055+3000_1055+3001insTATATATATACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003371	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0112 a0001c0001t0017g0112	1	196	0.0051	14	c.105 others(33): Show c.1055+3000_1055+3001insTATATATATATACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21072554	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0011 a0001c0008t0011	a0001c0008t0011g0069 a0001c0008t0011g0069	1	196	0.0051	14	c.123 others(33): Show c.1236+7339_1236+7352dupAAAAAAAAAAAAAA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21079976	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01106.hp1 others(23): Show HG00140.hp1 HG00639.hp1 HG01106.hp1 HG01256.hp2 HG01361.hp1 HG02027.hp2 HG02280.hp1 HG02622.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp2 NA18906.hp1 NA18906.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18992.hp1 NA19002.hp2 NA19007.hp1 NA19082.hp1 NA19091.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0011 a0001c0002t0041 a0001c0004t0004 a0001c0004t0037 a0001c0009t0004 a0002c0003t0002 a0002c0003t0005 a0002c0007t0002 a0002c0007t0038	a0001c0001t0001g0096 a0001c0001t0002g0124 a0001c0001t0004g0031 others(23): Show a0001c0001t0001g0096 a0001c0001t0002g0124 a0001c0001t0004g0031 a0001c0001t0004g0097 a0001c0001t0010g0109 a0001c0001t0012g0163 a0001c0001t0014g0067 a0001c0002t0001g0108 a0001c0002t0002g0047 a0001c0002t0003g0010 a0001c0002t0003g0055 a0001c0002t0009g0183 a0001c0002t0011g0131 a0001c0002t0041g0012 a0001c0004t0004g0102 a0001c0004t0037g0098 a0001c0009t0004g0019 a0001c0009t0004g0027 a0001c0009t0004g0028 a0002c0003t0002g0057 a0002c0003t0002g0079 a0002c0003t0005g0036 a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0007t0002g0048 a0002c0007t0038g0173	26	196	0.1327	14	c.123 others(35): Show c.1236+14768_1236+14781dupGTGTGTGTGTGTGT	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(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0040 a0002c0002t0040	a0002c0002t0040g0273 a0002c0002t0040g0273	1	306	0.0033	14	c.290 others(29): Show c.290+378_290+391dupAAAAAAAAAAAAAA	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	3/9			chr14	TogoVar
CDKL1_chr14_50321265_50401881	50380802	C C	CTTTGTTT others(7): Show CTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02145.hp2 HG02451.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0035 a0002c0002t0045 a0001c0001t0035 a0002c0002t0045	a0001c0001t0035g0227 a0002c0002t0045g0102 a0001c0001t0035g0227 a0002c0002t0045g0102	2	306	0.0065	14	c.168 others(33): Show c.168+14898_168+14899insAAAAAAAAAACAAA	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	2/9			chr14	TogoVar
CDKL3_chr5_134293424_134372171	134296782	T T	TACACACA others(7): Show TACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 NA18522.hp2 NA19043.hp1 HG03098.hp2 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0076 a0001c0001t0002g0002 a0001c0001t0002g0076	3	210	0.0143	14	c.18 others(25): Show c.1855_*1868dupGTGTGTGTGTGTGT	CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding		1641		chr5	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACACAC others(7): Show GCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19085.hp1 HG01243.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0140 a0001c0001t0001g0094 a0001c0001t0001g0140	2	192	0.0104	14	c.65- others(29): Show c.65-1587_65-1574dupACACACACACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACGCGC others(7): Show GCACGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0165 a0001c0001t0004g0165	1	192	0.0052	14	c.65- others(29): Show c.65-1620_65-1619insGCGCGCGCGCACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18626661	C C	CCTCTCTC others(7): Show CCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02132.hp1 NA18943.hp1 others(1): Show HG01433.hp1 HG02132.hp1 NA18943.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0040 a0001c0001t0001 a0001c0001t0002 a0001c0001t0040	a0001c0001t0001g0137 a0001c0001t0002g0146 a0001c0001t0002g0157 others(1): Show a0001c0001t0001g0137 a0001c0001t0002g0146 a0001c0001t0002g0157 a0001c0001t0040g0116	4	192	0.0208	14	c.249 others(33): Show c.2496+1464_2496+1477dupTCTCTCTCTCTCTC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18626723	T T	TCTCTCTC others(7): Show TCTCTCTCTCTCCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03195.hp1 HG01109.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0149 a0001c0001t0006g0151 a0001c0001t0006g0149 a0001c0001t0006g0151	2	192	0.0104	14	c.249 others(33): Show c.2496+1477_2496+1478insTCTCTCTCTCCCCC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKN1A_chr6_36673714_36692332	36680307	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02698.hp2 HG02615.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0209 a0001c0001t0013g0283 a0001c0001t0001g0209 a0001c0001t0013g0283	2	454	0.0044	14	c.-6+ others(29): Show c.-6+1534_-6+1547dupGTGTGTGTGTGTGT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36680340	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02523.hp2 HG02970.hp2 others(1): Show HG01975.hp1 HG02523.hp2 HG02970.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 others(1): Show a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371	4	454	0.0088	14	c.-6+ others(29): Show c.-6+1547_-6+1548insGTGTGTGTCTGTGT	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(7): Show TTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18967.hp1 HG02083.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0192 a0001c0001t0001g0176 a0001c0001t0001g0192	2	454	0.0044	14	c.-6+ others(29): Show c.-6+2537_-6+2538insCTTTCTTTCTTTCT	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(7): Show ATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02129.hp1 NA18952.hp1 HG00673.hp2 HG02129.hp1 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0004 a0001c0001t0003 a0002c0002t0004	a0001c0001t0003g0006 a0001c0001t0003g0034 a0002c0002t0004g0005 a0001c0001t0003g0006 a0001c0001t0003g0034 a0002c0002t0004g0005	3	442	0.0068	14	c.22 others(25): Show c.2260_*2261insTTTTTTTTTTTTTT	CDKN1B	ENSG00000111276.12	transcript	ENST00000228872.9	protein_coding		919		chr12	TogoVar
CDKN1C_chr11_2878218_2890775	2886863	A A	ACACACAC others(7): Show ACACACACACGCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG03041.hp1 HG03195.hp1 others(1): Show HG02572.hp1 HG03041.hp1 HG03195.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	4	417	0.0096	14	c.-12 others(25): Show c.-1241_-1240insCGTGCGTGTGTGTG	CDKN1C	ENSG00000129757.15	transcript	ENST00000440480.8	protein_coding		1089		chr11	TogoVar
CDKN2AIPNL_chr5_134397065_134416881	134407256	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18949.hp2 NA18947.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0117 a0001c0001t0001g0126	2	380	0.0053	14	c.339 others(31): Show c.339+2633_339+2646dupGTGTGTGTGTGTGT	CDKN2AIPNL	ENSG00000237190.4	transcript	ENST00000458198.3	protein_coding	2/2			chr5	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02155.hp1 HG02738.hp2 others(1): Show HG02135.hp2 HG02155.hp1 HG02738.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0074 a0001c0001t0002g0043 a0001c0001t0003g0057 a0001c0001t0001g0074 a0001c0001t0002g0043 a0001c0001t0003g0057	4	416	0.0096	14	c.151 others(29): Show c.151-381_151-368dupAAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02155.hp1 HG02738.hp2 others(1): Show HG02135.hp2 HG02155.hp1 HG02738.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0260 a0001c0001t0002g0308 a0001c0001t0002g0314 others(1): Show a0001c0001t0001g0260 a0001c0001t0002g0308 a0001c0001t0002g0314 a0001c0001t0003g0121	4	404	0.0099	14	c.194 others(29): Show c.194-381_194-368dupAAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981008	A A	ATATATAT others(7): Show ATATATATACACGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01943.hp1 HG04115.hp2 HG01496.hp2 HG01943.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0141 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0141	3	404	0.0074	14	c.194 others(31): Show c.194-9801_194-9800insCACGTGTATATATA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21987396	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18522.hp1 NA19030.hp1 HG01978.hp1 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0114 a0001c0001t0002g0049 a0001c0001t0007g0367 a0001c0001t0001g0114 a0001c0001t0002g0049 a0001c0001t0007g0367	3	404	0.0074	14	c.193 others(31): Show c.193+6729_193+6742dupGTGTGTGTGTGTGT	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990611	T T	TGAGAGAG others(7): Show TGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01169.hp1 others(23): Show HG01069.hp1 HG01069.hp2 HG01169.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG02004.hp1 HG02074.hp2 HG02165.hp2 HG02293.hp1 HG02630.hp2 HG02647.hp2 HG02738.hp1 HG03486.hp2 HG03540.hp2 HG03704.hp1 HG03834.hp2 NA18942.hp2 NA18964.hp1 NA18967.hp1 NA18979.hp2 NA18994.hp2 NA19004.hp1 NA19007.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0008 a0001c0001t0001g0066 a0001c0001t0001g0112 others(22): Show a0001c0001t0001g0008 a0001c0001t0001g0066 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0161 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0231 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0002g0023 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0342 a0001c0001t0003g0061	26	404	0.0644	14	c.193 others(31): Show c.193+3514_193+3527dupTCTCTCTCTCTCTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21993799	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	404	0.0025	14	c.193 others(29): Show c.193+326_193+339dupCACACACACACACA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2D_chr19_10561460_10573979	10570547	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01928.hp1 NA18945.hp1 HG01106.hp2 HG01928.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	410	0.0073	14	c.-18 others(25): Show c.-1895_-1894insTTTTTTTTTTTTTT	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding		1569		chr19	TogoVar
CDON_chr11_125951821_126067866	125958561	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0158 a0001c0001t0054g0158	1	334	0.0030	14	c.23 others(25): Show c.2380_*2381insCACACACACACACA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	20/20	2380		chr11	TogoVar
CDON_chr11_125951821_126067866	125958563	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01928.hp1 HG01928.hp2 HG03492.hp2 others(1): Show HG01928.hp1 HG01928.hp2 HG03492.hp2 NA18988.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0003c0006 a0001c0001 a0001c0009 a0003c0006	a0001c0001t0014 a0001c0009t0014 a0003c0006t0014 a0001c0001t0014 a0001c0009t0014 a0003c0006t0014	a0001c0001t0014g0054 a0001c0009t0014g0163 a0003c0006t0014g0053 others(1): Show a0001c0001t0014g0054 a0001c0009t0014g0163 a0003c0006t0014g0053 a0003c0006t0014g0177	4	334	0.0120	14	c.23 others(25): Show c.2378_*2379insCACACACACACACA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	20/20	2378		chr11	TogoVar
CDON_chr11_125951821_126067866	125958565	A A	ATATATGT others(7): Show ATATATGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18966.hp1 NA18982.hp1 NA18966.hp1 NA18982.hp1	a0001 a0001	a0001c0004 a0001c0021 a0001c0004 a0001c0021	a0001c0004t0086 a0001c0021t0064 a0001c0004t0086 a0001c0021t0064	a0001c0004t0086g0302 a0001c0021t0064g0094 a0001c0004t0086g0302 a0001c0021t0064g0094	2	334	0.0060	14	c.23 others(25): Show c.2376_*2377insCACACACACATATA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	20/20	2376		chr11	TogoVar
CDON_chr11_125951821_126067866	125958565	A A	ATATGTGT others(7): Show ATATGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp1 HG02976.hp2 HG03195.hp2 others(1): Show HG02698.hp1 HG02976.hp2 HG03195.hp2 NA21309.hp1	a0002 a0005 a0012 a0002 a0005 a0012	a0002c0012 a0002c0013 a0005c0045 others(1): Show a0002c0012 a0002c0013 a0005c0045 a0012c0060	a0002c0012t0076 a0002c0013t0017 a0005c0045t0017 others(1): Show a0002c0012t0076 a0002c0013t0017 a0005c0045t0017 a0012c0060t0017	a0002c0012t0076g0253 a0002c0013t0017g0011 a0005c0045t0017g0243 others(1): Show a0002c0012t0076g0253 a0002c0013t0017g0011 a0005c0045t0017g0243 a0012c0060t0017g0038	4	334	0.0120	14	c.23 others(25): Show c.2376_*2377insCACACACACACATA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	20/20	2376		chr11	TogoVar
CDON_chr11_125951821_126067866	125973018	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00438.hp1 others(36): Show HG00140.hp1 HG00280.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00738.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01168.hp1 HG01255.hp1 HG01346.hp2 HG01496.hp2 HG01952.hp1 HG01993.hp1 HG02080.hp1 HG02258.hp1 HG02735.hp1 HG02922.hp1 HG03017.hp1 HG03195.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG04184.hp1 NA18522.hp1 NA18952.hp1 NA18952.hp2 NA18966.hp2 NA18977.hp1 NA18977.hp2 NA18995.hp1 NA18998.hp2 NA19005.hp1 NA19010.hp2 NA19056.hp2 NA19065.hp2 NA19077.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0031	a0001c0004 a0002c0002 a0002c0013 others(3): Show a0001c0004 a0002c0002 a0002c0013 a0002c0028 a0003c0039 a0031c0066	a0001c0004t0003 a0001c0004t0008 a0001c0004t0031 others(20): Show a0001c0004t0003 a0001c0004t0008 a0001c0004t0031 a0002c0002t0003 a0002c0002t0008 a0002c0002t0009 a0002c0002t0022 a0002c0002t0030 a0002c0002t0033 a0002c0002t0060 a0002c0002t0062 a0002c0002t0069 a0002c0002t0085 a0002c0002t0087 a0002c0002t0089 a0002c0002t0090 a0002c0013t0017 a0002c0013t0024 a0002c0013t0074 a0002c0028t0099 a0002c0028t0101 a0003c0039t0001 a0031c0066t0032	a0001c0004t0003g0051 a0001c0004t0003g0073 a0001c0004t0003g0170 others(35): Show a0001c0004t0003g0051 a0001c0004t0003g0073 a0001c0004t0003g0170 a0001c0004t0008g0305 a0001c0004t0008g0306 a0001c0004t0031g0100 a0002c0002t0003g0001 a0002c0002t0003g0019 a0002c0002t0003g0024 a0002c0002t0003g0028 a0002c0002t0003g0101 a0002c0002t0003g0184 a0002c0002t0003g0231 a0002c0002t0003g0232 a0002c0002t0008g0252 a0002c0002t0008g0254 a0002c0002t0009g0280 a0002c0002t0009g0282 a0002c0002t0009g0290 a0002c0002t0009g0293 a0002c0002t0022g0168 a0002c0002t0030g0023 a0002c0002t0033g0268 a0002c0002t0033g0291 a0002c0002t0060g0224 a0002c0002t0062g0111 a0002c0002t0069g0210 a0002c0002t0085g0259 a0002c0002t0087g0298 a0002c0002t0089g0288 a0002c0002t0090g0261 a0002c0013t0017g0011 a0002c0013t0024g0217 a0002c0013t0074g0286 a0002c0028t0099g0313 a0002c0028t0101g0311 a0003c0039t0001g0084 a0031c0066t0032g0026	39	334	0.1168	14	c.335 others(33): Show c.3356+5272_3356+5285dupAAAAAAAAAAAAAA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19			chr11	TogoVar

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