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
CHST9_chr18_26901481_27190308	27053218	G G	GGAAGAAG others(11): Show GGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01978.hp1 HG02602.hp1 others(3): Show HG01106.hp2 HG01978.hp1 HG02602.hp1 HG03486.hp2 HG03942.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0049 a0001c0001t0002g0195 a0001c0001t0002g0196 others(3): Show a0001c0001t0001g0049 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0003g0244 a0001c0001t0004g0178 a0001c0001t0005g0181	6	262	0.0229	18	c.122 others(35): Show c.122-4733_122-4716dupTTCTTCTTCTTCTTCTTC	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CHST9_chr18_26901481_27190308	27053256	A A	AAGAAGAA others(11): Show AAGAAGAAGAAGAAGAAGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19085.hp1 HG02630.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0232 a0001c0001t0017g0090 a0001c0001t0002g0232 a0001c0001t0017g0090	2	262	0.0076	18	c.122 others(35): Show c.122-4754_122-4753insCCTTCTTCTTCTTCTTCT	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CHST9_chr18_26901481_27190308	27053256	A A	AAGAAGAA others(11): Show AAGAAGAAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG01074.hp2 others(3): Show HG00280.hp1 HG00673.hp1 HG01074.hp2 HG02602.hp2 NA18998.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0021 a0001c0001t0063	a0001c0001t0001g0038 a0001c0001t0004g0223 a0001c0001t0005g0065 others(3): Show a0001c0001t0001g0038 a0001c0001t0004g0223 a0001c0001t0005g0065 a0001c0001t0012g0155 a0001c0001t0021g0047 a0001c0001t0063g0099	6	262	0.0229	18	c.122 others(35): Show c.122-4754_122-4753insCCTTCTCCTTCTTCTTCT	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CHSY1_chr15_101170727_101257048	101251479	G G	GGCCGCCG others(11): Show GGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(261): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009	a0001c0001 a0001c0003 a0001c0005 others(14): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0015 a0001c0018 a0001c0019 a0001c0023 a0001c0025 a0001c0027 a0002c0002 a0002c0020 a0003c0011 a0004c0007 a0005c0010 a0008c0024 a0009c0021	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(38): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0047 a0001c0001t0058 a0001c0001t0059 a0001c0001t0062 a0001c0001t0063 a0001c0003t0004 a0001c0005t0001 a0001c0005t0011 a0001c0005t0027 a0001c0008t0044 a0001c0015t0004 a0001c0018t0005 a0001c0019t0008 a0001c0023t0017 a0001c0025t0017 a0001c0027t0060 a0002c0002t0002 a0002c0002t0029 a0002c0002t0031 a0002c0002t0035 a0002c0002t0045 a0002c0002t0046 a0002c0002t0048 a0002c0020t0031 a0002c0020t0064 a0003c0011t0001 a0003c0011t0016 a0003c0011t0065 a0004c0007t0001 a0004c0007t0008 a0005c0010t0001 a0005c0010t0011 a0005c0010t0055 a0008c0024t0004 a0009c0021t0004	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(237): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0005g0001 a0001c0001t0005g0004 a0001c0001t0005g0023 a0001c0001t0005g0331 a0001c0001t0005g0332 a0001c0001t0005g0333 a0001c0001t0005g0334 a0001c0001t0005g0335 a0001c0001t0005g0336 a0001c0001t0005g0337 a0001c0001t0005g0339 a0001c0001t0005g0340 a0001c0001t0005g0342 a0001c0001t0005g0344 a0001c0001t0005g0345 a0001c0001t0005g0346 a0001c0001t0005g0347 a0001c0001t0005g0348 a0001c0001t0005g0349 a0001c0001t0005g0351 a0001c0001t0005g0352 a0001c0001t0005g0353 a0001c0001t0005g0354 a0001c0001t0005g0356 a0001c0001t0005g0358 a0001c0001t0005g0359 a0001c0001t0005g0360 a0001c0001t0005g0361 a0001c0001t0005g0362 a0001c0001t0008g0003 a0001c0001t0008g0078 a0001c0001t0008g0092 a0001c0001t0008g0220 a0001c0001t0008g0222 a0001c0001t0008g0223 a0001c0001t0011g0330 a0001c0001t0011g0355 a0001c0001t0012g0315 a0001c0001t0012g0316 a0001c0001t0012g0317 a0001c0001t0012g0318 a0001c0001t0012g0319 a0001c0001t0012g0320 a0001c0001t0017g0369 a0001c0001t0017g0371 a0001c0001t0047g0209 a0001c0001t0058g0324 a0001c0001t0059g0350 a0001c0001t0062g0370 a0001c0001t0063g0374 a0001c0003t0004g0008 a0001c0003t0004g0062 a0001c0003t0004g0086 a0001c0003t0004g0089 a0001c0003t0004g0098 a0001c0003t0004g0100 a0001c0003t0004g0114 a0001c0003t0004g0115 a0001c0003t0004g0116 a0001c0003t0004g0117 a0001c0003t0004g0118 a0001c0003t0004g0120 a0001c0003t0004g0129 a0001c0003t0004g0130 a0001c0003t0004g0131 a0001c0003t0004g0132 a0001c0003t0004g0133 a0001c0003t0004g0134 a0001c0003t0004g0135 a0001c0003t0004g0136 a0001c0003t0004g0145 a0001c0003t0004g0155 a0001c0003t0004g0156 a0001c0003t0004g0165 a0001c0003t0004g0173 a0001c0003t0004g0174 a0001c0003t0004g0175 a0001c0003t0004g0176 a0001c0003t0004g0181 a0001c0003t0004g0190 a0001c0003t0004g0198 a0001c0003t0004g0199 a0001c0003t0004g0201 a0001c0003t0004g0217 a0001c0003t0004g0224 a0001c0003t0004g0225 a0001c0005t0001g0071 a0001c0005t0001g0072 a0001c0005t0001g0073 a0001c0005t0001g0195 a0001c0005t0001g0200 a0001c0005t0011g0326 a0001c0005t0011g0327 a0001c0005t0011g0328 a0001c0005t0011g0329 a0001c0005t0027g0196 a0001c0005t0027g0197 a0001c0008t0044g0102 a0001c0015t0004g0170 a0001c0015t0004g0188 a0001c0015t0004g0189 a0001c0015t0004g0191 a0001c0018t0005g0338 a0001c0018t0005g0341 a0001c0019t0008g0075 a0001c0019t0008g0076 a0001c0023t0017g0373 a0001c0025t0017g0372 a0001c0027t0060g0363 a0002c0002t0002g0006 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0018 a0002c0002t0002g0070 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0093 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0119 a0002c0002t0002g0122 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0160 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0171 a0002c0002t0002g0178 a0002c0002t0002g0182 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0216 a0002c0002t0002g0219 a0002c0002t0029g0343 a0002c0002t0029g0357 a0002c0002t0031g0368 a0002c0002t0035g0026 a0002c0002t0045g0107 a0002c0002t0046g0095 a0002c0002t0048g0113 a0002c0020t0031g0367 a0002c0020t0064g0375 a0003c0011t0001g0185 a0003c0011t0016g0213 a0003c0011t0016g0214 a0003c0011t0016g0215 a0003c0011t0016g0218 a0003c0011t0065g0376 a0004c0007t0001g0121 a0004c0007t0001g0184 a0004c0007t0008g0074 a0005c0010t0001g0094 a0005c0010t0001g0151 a0005c0010t0001g0152 a0005c0010t0001g0183 a0005c0010t0011g0325 a0005c0010t0055g0321 a0008c0024t0004g0110 a0009c0021t0004g0124	264	422	0.6256	18	c.-24 others(25): Show c.-24_-23insGGCGGCGGCGGCGGCGGC	CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	1/3	24		chr15	TogoVar
CHSY3_chr5_129899465_130191634	130128229	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0008 a0006c0011t0008	a0006c0011t0008g0134 a0006c0011t0008g0134	1	276	0.0036	18	c.108 others(39): Show c.1087-55992_1087-55975dupTGTGTGTGTGTGTGTGTG	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHSY3_chr5_129899465_130191634	130143730	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0240 a0001c0001t0013g0240	1	276	0.0036	18	c.108 others(39): Show c.1087-40498_1087-40497insATATATATATATATATAT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHSY3_chr5_129899465_130191634	130143732	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA19240.hp2 HG02818.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0013 a0002c0007t0012 a0001c0001t0013 a0002c0007t0012	a0001c0001t0013g0242 a0002c0007t0012g0129 a0001c0001t0013g0242 a0002c0007t0012g0129	2	276	0.0073	18	c.108 others(39): Show c.1087-40496_1087-40495insATATATATATATATATAT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHSY3_chr5_129899465_130191634	130143734	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0262 a0002c0003t0006g0262	1	276	0.0036	18	c.108 others(39): Show c.1087-40494_1087-40493insGTATATATATATATATAT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHUK_chr10_100183300_100234596	100228993	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02056.hp1 HG02071.hp2 HG01255.hp2 HG02056.hp1 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0048 a0001c0005t0001g0285 a0001c0001t0001g0048 a0001c0005t0001g0285	3	402	0.0075	18	c.105 others(33): Show c.105+417_105+434dupTGTGTGTGTGTGTGTGTG	CHUK	ENSG00000213341.11	transcript	ENST00000370397.8	protein_coding	1/20			chr10	TogoVar
CIB2_chr15_78099606_78136445	78117246	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02683.hp1 HG03486.hp1 others(8): Show HG01123.hp1 HG02683.hp1 HG03486.hp1 HG04204.hp2 NA18612.hp1 NA18942.hp1 NA18948.hp1 NA19003.hp2 NA19009.hp1 NA19081.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0015	a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0182 others(8): Show a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0182 a0001c0001t0001g0224 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0255 a0001c0001t0003g0171 a0001c0001t0004g0295 a0001c0001t0014g0144 a0001c0001t0015g0297	11	390	0.0282	18	c.87- others(33): Show c.87-5988_87-5971dupTTTTTTTTTTTTTTTTTT	CIB2	ENSG00000136425.14	transcript	ENST00000258930.8	protein_coding	2/5			chr15	TogoVar
CIB4_chr2_26576205_26646366	26589066	C C	CTCTTCTT others(11): Show CTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0120 a0002c0002t0002g0120	1	344	0.0029	18	c.329 others(35): Show c.329-5169_329-5168insAGAAGAAGAAGAAGAAGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26589108	C C	CTCTTCTT others(11): Show CTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19074.hp2 NA18983.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0210 a0001c0001t0001g0189 a0001c0001t0001g0210	2	344	0.0058	18	c.329 others(35): Show c.329-5228_329-5211dupAGAAGAAGAAGAAGAAGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26590258	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18949.hp1 HG02155.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0228 a0001c0001t0002g0221 a0001c0001t0001g0228 a0001c0001t0002g0221	2	344	0.0058	18	c.328 others(35): Show c.328+4900_328+4917dupTTTTTTTTTTTTTTTTTT	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26601217	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03486.hp2 HG03139.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0164 a0001c0001t0001g0166	2	344	0.0058	18	c.187 others(35): Show c.187-5901_187-5900insTTTTTTTTTTTTTTTTTT	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	3/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26617120	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01433.hp2 HG02622.hp1 others(2): Show HG00280.hp2 HG01433.hp2 HG02622.hp1 NA18522.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0002c0002t0002 a0001c0001t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0002g0162 a0001c0001t0005g0263 a0002c0002t0002g0277 others(2): Show a0001c0001t0002g0162 a0001c0001t0005g0263 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0307	5	344	0.0145	18	c.186 others(37): Show c.186+12272_186+12289dupCACACACACACACACACA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	3/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26617147	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	344	0.0029	18	c.186 others(37): Show c.186+12262_186+12263insGCGCGCACACACACACAC	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	3/6			chr2	TogoVar
CIBAR1_chr8_93695550_93736527	93697765	C C	CATATATA others(11): Show CATATATATACATGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02647.hp2 HG02965.hp1 others(1): Show HG01891.hp1 HG02647.hp2 HG02965.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0104 a0001c0001t0001g0021 a0001c0001t0001g0104	4	374	0.0107	18	c.-28 others(29): Show c.-2883_-2882insATATATATACATGTATAT	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		2784		chr8	TogoVar
CIDEA_chr18_12249361_12282595	12270688	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0361 a0001c0001t0001g0361	1	448	0.0022	18	c.331 others(35): Show c.331-3394_331-3377dupAAAAAAAAAAAAAAAAAA	CIDEA	ENSG00000176194.18	transcript	ENST00000320477.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
CIDEA_chr18_12249361_12282595	12276262	G G	GGGATTAC others(11): Show GGGATTACAGGCATGAACC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG01981.hp2 HG01109.hp2 HG01243.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0373 a0001c0001t0002g0374 a0001c0001t0002g0375 a0001c0001t0002g0373 a0001c0001t0002g0374 a0001c0001t0002g0375	3	448	0.0067	18	c.513 others(33): Show c.513-860_513-843dupGGATTACAGGCATGAACC	CIDEA	ENSG00000176194.18	transcript	ENST00000320477.10	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
CINP_chr14_102343282_102367890	102359227	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01099.hp1 others(17): Show HG00099.hp2 HG01069.hp2 HG01099.hp1 HG01258.hp2 HG01346.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02717.hp1 HG02818.hp2 HG03209.hp1 HG03688.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA19002.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0008 a0002c0003t0001 a0001c0001t0001 a0001c0001t0008 a0002c0003t0001	a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0069 others(6): Show a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0069 a0001c0001t0008g0063 a0002c0003t0001g0006 a0002c0003t0001g0116 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0179	20	420	0.0476	18	c.176 others(33): Show c.176+174_176+191dupATATATATATATATATAT	CINP	ENSG00000100865.15	transcript	ENST00000216756.11	protein_coding	2/4			chr14	TogoVar
CINP_chr14_102343282_102367890	102359234	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18975.hp1 NA18985.hp2 others(1): Show NA18945.hp1 NA18975.hp1 NA18985.hp2 NA19007.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0028 a0002c0003t0001g0108 a0002c0003t0001g0028 a0002c0003t0001g0108	4	420	0.0095	18	c.176 others(33): Show c.176+184_176+185insAATATATATATATATATA	CINP	ENSG00000100865.15	transcript	ENST00000216756.11	protein_coding	2/4			chr14	TogoVar
CIP2A_chr3_108544864_108594438	108545503	A A	AATAAAAC others(11): Show AATAAAACATTAAATTTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01433.hp2 HG02683.hp2 HG00738.hp1 HG01433.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049	3	372	0.0081	18	c.56 others(29): Show c.5645_*5646insGTAAATTTAATGTTTTAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding		4360		chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569168	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	372	0.0027	18	c.111 others(35): Show c.1113+220_1113+221insTATATATATATATATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569177	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp2 NA18906.hp2 HG02922.hp2 HG02970.hp2 NA18906.hp2	a0001 a0016 a0001 a0016	a0001c0003 a0016c0016 a0001c0003 a0016c0016	a0001c0003t0003 a0016c0016t0003 a0001c0003t0003 a0016c0016t0003	a0001c0003t0003g0303 a0001c0003t0003g0304 a0016c0016t0003g0301 a0001c0003t0003g0303 a0001c0003t0003g0304 a0016c0016t0003g0301	3	372	0.0081	18	c.111 others(35): Show c.1113+211_1113+212insGTATATATATATATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569179	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	372	0.0027	18	c.111 others(35): Show c.1113+209_1113+210insGTATATATATATATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CISH_chr3_50601489_50616774	50614500	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	18	c.-28 others(29): Show c.-2868_-2851dupACACACACACACACACAC	CISH	ENSG00000114737.16	transcript	ENST00000348721.4	protein_coding		2727		chr3	TogoVar
CIT_chr12_119680791_119882320	119717838	C C	CTTTCTTT others(11): Show CTTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0233 a0001c0001t0026g0233	1	236	0.0042	18	c.416 others(35): Show c.4168+406_4168+407insAAAAAAAAAAAAAAGAAA	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	32/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119717838	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG01081.hp1 others(29): Show HG00280.hp2 HG00735.hp1 HG01081.hp1 HG01167.hp1 HG02015.hp2 HG02071.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG03041.hp1 HG03139.hp1 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03710.hp1 HG03942.hp2 HG04199.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18993.hp1 NA18993.hp2 NA19002.hp2 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19065.hp2 NA19079.hp2 NA19081.hp2 NA19089.hp1 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0015 others(1): Show a0001c0001 a0001c0008 a0001c0015 a0001c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0023 a0001c0008t0001 a0001c0015t0006 a0001c0031t0004	a0001c0001t0001g0047 a0001c0001t0001g0108 a0001c0001t0001g0114 others(29): Show a0001c0001t0001g0047 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0223 a0001c0001t0002g0139 a0001c0001t0003g0106 a0001c0001t0003g0111 a0001c0001t0004g0151 a0001c0001t0004g0157 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0173 a0001c0001t0004g0204 a0001c0001t0016g0124 a0001c0001t0023g0214 a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 a0001c0015t0006g0004 a0001c0031t0004g0167	32	236	0.1356	18	c.416 others(35): Show c.4168+389_4168+406dupAAAAAAAAAAAAAAAAAA	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	32/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119726011	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp2 NA19030.hp1 HG06807.hp1 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0028 a0001c0007 a0001c0028	a0001c0007t0005 a0001c0028t0003 a0001c0007t0005 a0001c0028t0003	a0001c0007t0005g0030 a0001c0007t0005g0228 a0001c0028t0003g0229 a0001c0007t0005g0030 a0001c0007t0005g0228 a0001c0028t0003g0229	3	236	0.0127	18	c.359 others(37): Show c.3591+2473_3591+2490dupACACACACACACACACAC	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	28/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119745374	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0205 a0001c0003t0003g0205	1	236	0.0042	18	c.290 others(37): Show c.2905-2928_2905-2911dupTTTTTTTTTTTTTTTTTT	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	23/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119803640	T T	TCACTTGG others(11): Show TCACTTGGGCCAACGAAAG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	236	0.0042	18	c.111 others(35): Show c.1112-269_1112-252dupCTTTCGTTGGCCCAAGTG	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	9/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119816697	G G	GCTGTTCG others(11): Show GCTGTTCGTTAACAGTAAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0003 a0001c0025t0003	a0001c0025t0003g0064 a0001c0025t0003g0064	1	236	0.0042	18	c.111 others(37): Show c.1111+6105_1111+6122dupGTTACTGTTAACGAACAG	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	9/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119836284	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 NA19240.hp2 HG02895.hp1 HG02897.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0022 a0001c0005t0010 a0001c0005t0022	a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0022g0041 a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0022g0041	3	236	0.0127	18	c.517 others(35): Show c.517-2074_517-2057dupTTTTTTTTTTTTTTTTTT	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	5/47			chr12	TogoVar
CKAP2L_chr2_112731349_112769609	112734169	A A	ATATATGT others(11): Show ATATATGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01261.hp2 NA18990.hp1 others(1): Show HG01074.hp1 HG01261.hp2 NA18990.hp1 NA19068.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0008 a0002c0002 a0006c0008	a0002c0002t0002 a0006c0008t0002 a0002c0002t0002 a0006c0008t0002	a0002c0002t0002g0159 a0002c0002t0002g0173 a0002c0002t0002g0175 others(1): Show a0002c0002t0002g0159 a0002c0002t0002g0173 a0002c0002t0002g0175 a0006c0008t0002g0187	4	300	0.0133	18	c.46 others(29): Show c.4653_*4654insCACACACACACACATATA	CKAP2L	ENSG00000169607.13	transcript	ENST00000302450.11	protein_coding		2179		chr2	TogoVar
CKAP2L_chr2_112731349_112769609	112734169	A A	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02615.hp1 HG03669.hp1 HG01175.hp1 HG02615.hp1 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0127 a0001c0001t0001g0143 a0002c0002t0002g0182 a0001c0001t0001g0127 a0001c0001t0001g0143 a0002c0002t0002g0182	3	300	0.0100	18	c.46 others(29): Show c.4653_*4654insCACACACACACACACATA	CKAP2L	ENSG00000169607.13	transcript	ENST00000302450.11	protein_coding		2179		chr2	TogoVar
CKAP2L_chr2_112731349_112769609	112734169	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0011 a0001c0010t0011	a0001c0010t0011g0027 a0001c0010t0011g0027	1	300	0.0033	18	c.46 others(29): Show c.4636_*4653dupCACACACACACACACACA	CKAP2L	ENSG00000169607.13	transcript	ENST00000302450.11	protein_coding		2179		chr2	TogoVar
CKAP2_chr13_52450478_52481627	52451379	A A	AACTCCCC others(11): Show AACTCCCCCACGCCACTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG06807.hp1 NA18522.hp2 others(1): Show HG02970.hp2 HG06807.hp1 NA18522.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0005 a0001c0013t0008 a0001c0001t0005 a0001c0013t0008	a0001c0001t0005g0035 a0001c0001t0005g0154 a0001c0013t0008g0155 a0001c0001t0005g0035 a0001c0001t0005g0154 a0001c0013t0008g0155	4	406	0.0099	18	c.-41 others(29): Show c.-4178_-4177insACTCCCCCACGCCACTCC	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding		4098		chr13	TogoVar
CKAP2_chr13_52450478_52481627	52466010	C C	CATACACA others(11): Show CATACACATATATACACAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	406	0.0025	18	c.147 others(35): Show c.1476+563_1476+580dupTATACACATATATACACA	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CKAP4_chr12_106232881_106253020	106237526	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01346.hp1 HG02080.hp2 others(8): Show HG01243.hp2 HG01346.hp1 HG02080.hp2 HG02717.hp2 HG02886.hp1 HG03041.hp1 HG03540.hp1 NA18906.hp1 NA18961.hp2 NA19004.hp1 NA20300.hp1	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0003c0003 a0003c0020 others(1): Show a0002c0002 a0003c0003 a0003c0020 a0008c0009	a0002c0002t0002 a0002c0002t0003 a0002c0002t0015 others(4): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0015 a0003c0003t0002 a0003c0003t0003 a0003c0020t0001 a0008c0009t0001	a0002c0002t0002g0002 a0002c0002t0003g0003 a0002c0002t0015g0037 others(6): Show a0002c0002t0002g0002 a0002c0002t0003g0003 a0002c0002t0015g0037 a0003c0003t0002g0010 a0003c0003t0002g0059 a0003c0003t0002g0103 a0003c0003t0003g0043 a0003c0020t0001g0112 a0008c0009t0001g0033	11	418	0.0263	18	c.14 others(29): Show c.1497_*1498insTTTTTTTTTTTTTTTTTT	CKAP4	ENSG00000136026.14	transcript	ENST00000378026.5	protein_coding		354		chr12	TogoVar
CKAP5_chr11_46738048_46851280	46752161	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01081.hp2 HG01070.hp1 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0230 a0001c0001t0003g0218 a0001c0001t0001g0230 a0001c0001t0003g0218	2	294	0.0068	18	c.513 others(35): Show c.5133+456_5133+473dupATATATATATATATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46752193	T T	TATATACA others(11): Show TATATACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	294	0.0034	18	c.513 others(35): Show c.5133+441_5133+442insGTGTGTGTGTGTGTATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46752193	T T	TATATATA others(11): Show TATATATACACACACACAC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18982.hp2 NA18984.hp1 others(3): Show NA18961.hp2 NA18982.hp2 NA18984.hp1 NA18987.hp2 NA18998.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0004t0002 a0001c0001t0002 a0001c0001t0004 a0001c0004t0002	a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0066 others(3): Show a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0066 a0001c0001t0002g0079 a0001c0001t0004g0110 a0001c0004t0002g0047	6	294	0.0204	18	c.513 others(35): Show c.5133+441_5133+442insGTGTGTGTGTGTATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46752193	T T	TATATATA others(11): Show TATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01071.hp1 others(12): Show HG00741.hp2 HG01070.hp2 HG01071.hp1 NA18747.hp1 NA18949.hp2 NA18951.hp1 NA18963.hp1 NA18973.hp2 NA18978.hp2 NA18979.hp1 NA18995.hp1 NA19007.hp1 NA19057.hp2 NA19077.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0004t0002 a0001c0001t0002 a0001c0001t0004 a0001c0004t0002	a0001c0001t0002g0040 a0001c0001t0002g0060 a0001c0001t0002g0062 others(12): Show a0001c0001t0002g0040 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0082 a0001c0001t0002g0096 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0114 a0001c0001t0004g0077 a0001c0001t0004g0105 a0001c0001t0004g0107 a0001c0001t0004g0254 a0001c0004t0002g0086	15	294	0.0510	18	c.513 others(35): Show c.5133+441_5133+442insGTGTGTGTGTATATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46752193	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	294	0.0034	18	c.513 others(35): Show c.5133+441_5133+442insGTGTGTGTATATATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46752193	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	294	0.0034	18	c.513 others(35): Show c.5133+441_5133+442insGTGTATATATATATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46752193	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03579.hp2 HG03209.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0008 a0001c0002t0003g0273 a0001c0001t0001g0008 a0001c0002t0003g0273	2	294	0.0068	18	c.513 others(35): Show c.5133+441_5133+442insGTATATATATATATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKMT2_chr5_81228322_81271398	81250940	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02895.hp2 HG02897.hp1 others(7): Show HG01167.hp2 HG02895.hp2 HG02897.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 NA19030.hp2 NA19063.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0174 others(7): Show a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0196 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0202 a0001c0001t0002g0232 a0001c0001t0002g0239	10	356	0.0281	18	c.-20 others(33): Show c.-20-151_-20-134dupCACACACACACACACACA	CKMT2	ENSG00000131730.16	transcript	ENST00000254035.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
CLASP1_chr2_121332776_121654462	121555988	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0009 a0001c0001t0059g0009	1	214	0.0047	18	c.196 others(37): Show c.196-25681_196-25664dupAAAAAAAAAAAAAAAAAA	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	2/40			chr2	TogoVar
CLASP1_chr2_121332776_121654462	121610883	C C	CGGAGGAA others(11): Show CGGAGGAAGAGGAGTTACA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0120 a0001c0001t0007g0120	1	214	0.0047	18	c.-28 others(37): Show c.-285-4721_-285-4704dupTGTAACTCCTCTTCCTCC	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	1/40			chr2	TogoVar
CLASP2_chr3_33491245_33723254	33506377	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	278	0.0036	18	c.431 others(37): Show c.4317+4180_4317+4181insTTTTTTTTTTTTTTTTTT	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	37/38			chr3	TogoVar

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