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
CCDC25_chr8_27728316_27777640	27734589	C C	CAGAGGAG others(5): Show CAGAGGAGGTTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(274): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19078.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 others(199): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0004g0049 a0001c0001t0004g0169 a0001c0001t0004g0176 a0001c0001t0004g0179 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0242 a0001c0001t0005g0003 a0001c0001t0005g0030 a0001c0001t0009g0014 a0001c0001t0009g0099 a0001c0001t0009g0101 a0001c0001t0009g0109 a0001c0001t0010g0017 a0001c0001t0010g0247 a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0011g0053 a0001c0001t0011g0246 a0001c0001t0011g0250 a0001c0001t0011g0251 a0001c0001t0011g0252 a0001c0001t0013g0060 a0001c0001t0013g0061 a0001c0001t0013g0062 a0001c0001t0013g0075 a0001c0001t0013g0083 a0001c0001t0015g0019 a0001c0001t0015g0063 a0001c0001t0015g0114 a0001c0001t0017g0020 a0001c0001t0018g0033 a0001c0001t0019g0156 a0001c0001t0019g0157 a0001c0001t0020g0040 a0001c0001t0021g0054 a0001c0001t0023g0065 a0001c0001t0024g0072 a0001c0001t0025g0103 a0001c0001t0029g0203 a0001c0001t0030g0205 a0001c0001t0031g0216 a0001c0001t0032g0145 a0001c0001t0033g0253	277	368	0.7527	12	c.16 others(23): Show c.1626_*1627insCCAACCTCCTCT	CCDC25	ENSG00000147419.19	transcript	ENST00000356537.9	protein_coding	9/9	1626		chr8	TogoVar
CCDC25_chr8_27728316_27777640	27737875	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03453.hp1 HG02976.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0162 a0001c0001t0001g0166	2	368	0.0054	12	c.598 others(29): Show c.598-1631_598-1630insGTGTGTGTGTGT	CCDC25	ENSG00000147419.19	transcript	ENST00000356537.9	protein_coding	8/8			chr8	TogoVar
CCDC25_chr8_27728316_27777640	27759779	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18612.hp2 NA18941.hp1 others(1): Show HG01943.hp1 NA18612.hp2 NA18941.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0004g0176 others(1): Show a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0004g0176 a0001c0001t0004g0221	4	368	0.0109	12	c.116 others(29): Show c.116+2628_116+2639dupTTTTTTTTTTTT	CCDC25	ENSG00000147419.19	transcript	ENST00000356537.9	protein_coding	3/8			chr8	TogoVar
CCDC30_chr1_42458286_42662190	42551742	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02970.hp1 HG03486.hp2 HG01243.hp2 HG02970.hp1 HG03486.hp2	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0008 a0001c0007t0005 a0001c0006t0008 a0001c0007t0005	a0001c0006t0008g0322 a0001c0007t0005g0315 a0001c0007t0005g0316 a0001c0006t0008g0322 a0001c0007t0005g0315 a0001c0007t0005g0316	3	324	0.0093	12	c.891 others(29): Show c.891-4392_891-4381dupTGTGTGTGTGTG	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC30_chr1_42458286_42662190	42553652	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA19030.hp2 HG03239.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0021 a0001c0004 a0001c0021	a0001c0004t0040 a0001c0021t0045 a0001c0004t0040 a0001c0021t0045	a0001c0004t0040g0293 a0001c0021t0045g0049 a0001c0004t0040g0293 a0001c0021t0045g0049	2	324	0.0062	12	c.891 others(29): Show c.891-2475_891-2464dupACACACACACAC	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC30_chr1_42458286_42662190	42575649	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01891.hp2 HG02109.hp2 others(15): Show HG01167.hp2 HG01891.hp2 HG02109.hp2 HG02572.hp2 HG02809.hp2 HG02886.hp1 HG02970.hp2 HG03041.hp1 HG03471.hp2 HG03579.hp1 NA18522.hp2 NA18972.hp1 NA18986.hp2 NA19084.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0001c0009 others(3): Show a0001c0001 a0001c0005 a0001c0009 a0002c0003 a0003c0012 a0003c0015	a0001c0001t0001 a0001c0005t0005 a0001c0009t0017 others(7): Show a0001c0001t0001 a0001c0005t0005 a0001c0009t0017 a0001c0009t0047 a0002c0003t0003 a0002c0003t0005 a0003c0012t0048 a0003c0012t0049 a0003c0015t0038 a0003c0015t0041	a0001c0001t0001g0198 a0001c0005t0005g0300 a0001c0005t0005g0302 others(15): Show a0001c0001t0001g0198 a0001c0005t0005g0300 a0001c0005t0005g0302 a0001c0005t0005g0303 a0001c0005t0005g0304 a0001c0005t0005g0306 a0001c0005t0005g0307 a0001c0009t0017g0055 a0001c0009t0017g0056 a0001c0009t0017g0057 a0001c0009t0047g0058 a0002c0003t0003g0013 a0002c0003t0003g0017 a0002c0003t0005g0031 a0003c0012t0048g0062 a0003c0012t0049g0061 a0003c0015t0038g0305 a0003c0015t0041g0308	18	324	0.0556	12	c.132 others(31): Show c.1321-1362_1321-1361insAAAAAAAAAAAA	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC30_chr1_42458286_42662190	42621497	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp2 HG00733.hp2 others(35): Show HG00323.hp2 HG00609.hp2 HG00733.hp2 HG00738.hp1 HG01074.hp1 HG01106.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG01928.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02148.hp2 HG02280.hp2 HG02698.hp1 HG02735.hp2 HG02976.hp1 HG03098.hp2 HG04184.hp1 NA18612.hp1 NA18950.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18966.hp2 NA18972.hp1 NA18975.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19010.hp2 NA19012.hp1 NA19063.hp1 NA19065.hp2 NA19084.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0010 a0001c0004t0003 a0002c0003t0003 others(4): Show a0001c0001t0010 a0001c0004t0003 a0002c0003t0003 a0002c0003t0005 a0002c0003t0014 a0002c0003t0016 a0002c0003t0034	a0001c0001t0010g0196 a0001c0004t0003g0237 a0001c0004t0003g0255 others(35): Show a0001c0001t0010g0196 a0001c0004t0003g0237 a0001c0004t0003g0255 a0002c0003t0003g0011 a0002c0003t0003g0012 a0002c0003t0003g0013 a0002c0003t0003g0014 a0002c0003t0003g0016 a0002c0003t0003g0017 a0002c0003t0003g0018 a0002c0003t0003g0019 a0002c0003t0003g0022 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0028 a0002c0003t0003g0030 a0002c0003t0003g0032 a0002c0003t0003g0033 a0002c0003t0003g0034 a0002c0003t0003g0035 a0002c0003t0003g0036 a0002c0003t0003g0037 a0002c0003t0003g0039 a0002c0003t0003g0040 a0002c0003t0003g0042 a0002c0003t0003g0043 a0002c0003t0003g0051 a0002c0003t0003g0053 a0002c0003t0005g0023 a0002c0003t0005g0024 a0002c0003t0014g0009 a0002c0003t0014g0029 a0002c0003t0014g0038 a0002c0003t0016g0020 a0002c0003t0016g0021 a0002c0003t0016g0041 a0002c0003t0034g0015	38	324	0.1173	12	c.196 others(33): Show c.1961+10427_1961+10438dupATTTATTTATTT	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC30_chr1_42458286_42662190	42641215	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	324	0.0031	12	c.210 others(31): Show c.2104-1223_2104-1212dupTGTGTGTGTGTG	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC30_chr1_42458286_42662190	42650497	A A	ATATGTGT others(5): Show ATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	324	0.0031	12	c.253 others(31): Show c.2539-2878_2539-2877insATGTGTGTGTGT	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC30_chr1_42458286_42662190	42650497	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01433.hp1 HG01081.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0025 a0001c0001t0007 a0001c0001t0025	a0001c0001t0007g0093 a0001c0001t0025g0130 a0001c0001t0007g0093 a0001c0001t0025g0130	2	324	0.0062	12	c.253 others(31): Show c.2539-2847_2539-2836dupGTGTGTGTGTGT	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC32_chr15_40548099_40570042	40551809	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 NA21309.hp1 HG00741.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0050 a0001c0001t0047 a0001c0001t0050	a0001c0001t0047g0062 a0001c0001t0050g0061 a0001c0001t0047g0062 a0001c0001t0050g0061	2	400	0.0050	12	c.21 others(23): Show c.2150_*2161dupTTTTTTTTTTTT	CCDC32	ENSG00000128891.17	transcript	ENST00000416810.7	protein_coding		1289		chr15	TogoVar
CCDC32_chr15_40548099_40570042	40553905	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18989.hp1 NA19030.hp2 NA18989.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0082 a0001c0001t0030g0134 a0001c0001t0030g0082 a0001c0001t0030g0134	2	400	0.0050	12	c.54 others(19): Show c.54_*65dupACACACACACAC	CCDC32	ENSG00000128891.17	transcript	ENST00000416810.7	protein_coding	4/4	65		chr15	TogoVar
CCDC33_chr15_74231326_74341141	74283794	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01346.hp2 HG02630.hp1 others(2): Show HG01243.hp1 HG01346.hp2 HG02630.hp1 HG03225.hp2 HG03579.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0030 a0008c0008 a0001c0001 a0003c0030 a0008c0008	a0001c0001t0002 a0003c0030t0002 a0008c0008t0002 a0001c0001t0002 a0003c0030t0002 a0008c0008t0002	a0001c0001t0002g0076 a0001c0001t0002g0108 a0001c0001t0002g0109 others(2): Show a0001c0001t0002g0076 a0001c0001t0002g0108 a0001c0001t0002g0109 a0003c0030t0002g0006 a0008c0008t0002g0275	5	288	0.0174	12	c.109 others(31): Show c.1095+1959_1095+1970dupACACACACACAC	CCDC33	ENSG00000140481.15	transcript	ENST00000398814.8	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CCDC33_chr15_74231326_74341141	74308354	G G	GACACACA others(5): Show GACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01346.hp1 HG01346.hp2 others(16): Show HG01106.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01978.hp2 HG02056.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03209.hp1 HG03225.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp1 NA18947.hp1 NA19081.hp2 NA19086.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0026	a0001c0001 a0002c0003 a0003c0002 others(2): Show a0001c0001 a0002c0003 a0003c0002 a0004c0004 a0026c0026	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0002c0003t0003 a0003c0002t0002 a0004c0004t0002 a0026c0026t0001	a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0159 others(16): Show a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0221 a0001c0001t0001g0238 a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0001t0002g0076 a0001c0001t0002g0108 a0002c0003t0001g0189 a0002c0003t0003g0163 a0003c0002t0002g0073 a0003c0002t0002g0121 a0003c0002t0002g0122 a0003c0002t0002g0128 a0004c0004t0002g0027 a0004c0004t0002g0029 a0004c0004t0002g0056 a0026c0026t0001g0242	19	288	0.0660	12	c.129 others(33): Show c.1290+12409_1290+12410insCACACACACACA	CCDC33	ENSG00000140481.15	transcript	ENST00000398814.8	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CCDC34_chr11_27333512_27368215	27346474	A A	AGAAGGAA others(5): Show AGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01433.hp1 others(20): Show HG01109.hp1 HG01243.hp1 HG01433.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG02145.hp2 HG02486.hp1 HG02886.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG04199.hp1 NA18612.hp1 NA18943.hp2 NA18944.hp2 NA18961.hp2 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19081.hp1 NA19089.hp1 NA21309.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0008 a0001c0001 a0002c0002 a0009c0008	a0001c0001t0001 a0002c0002t0001 a0009c0008t0001 a0001c0001t0001 a0002c0002t0001 a0009c0008t0001	a0001c0001t0001g0013 a0001c0001t0001g0086 a0001c0001t0001g0113 others(16): Show a0001c0001t0001g0013 a0001c0001t0001g0086 a0001c0001t0001g0113 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0212 a0001c0001t0001g0246 a0001c0001t0001g0254 a0002c0002t0001g0009 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0088 a0002c0002t0001g0094 a0002c0002t0001g0101 a0002c0002t0001g0210 a0009c0008t0001g0063	23	358	0.0643	12	c.606 others(29): Show c.606+3846_606+3857dupCTTCCTTCCTTC	CCDC34	ENSG00000109881.17	transcript	ENST00000328697.11	protein_coding	3/5			chr11	TogoVar
CCDC34_chr11_27333512_27368215	27356008	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0262 a0006c0006t0001g0262	1	358	0.0028	12	c.498 others(29): Show c.498+1383_498+1394dupAAAAAAAAAAAA	CCDC34	ENSG00000109881.17	transcript	ENST00000328697.11	protein_coding	2/5			chr11	TogoVar
CCDC38_chr12_95862048_95947614	95876545	T T	TTCGTTAT others(5): Show TTCGTTATGTATA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0194 a0001c0005t0001g0194	1	350	0.0029	12	c.127 others(31): Show c.1278+1665_1278+1666insTATACATAACGA	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	13/15			chr12	TogoVar
CCDC38_chr12_95862048_95947614	95908443	A A	AAGAGGGA others(5): Show AAGAGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02896.hp2 HG02559.hp2 HG02896.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0001 a0001c0007t0001 a0001c0005t0001 a0001c0007t0001	a0001c0005t0001g0224 a0001c0007t0001g0189 a0001c0005t0001g0224 a0001c0007t0001g0189	2	350	0.0057	12	c.305 others(29): Show c.305-2004_305-1993dupCCCTCTCCCTCT	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC38_chr12_95862048_95947614	95916375	G G	GCCTTCCT others(5): Show GCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0190	1	350	0.0029	12	c.304 others(27): Show c.304+753_304+754insAAGGAAGGAAGG	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC38_chr12_95862048_95947614	95916379	G G	GCCTGCCT others(5): Show GCCTGCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0002 a0003c0020t0002	a0003c0020t0002g0252 a0003c0020t0002g0252	1	350	0.0029	12	c.304 others(27): Show c.304+749_304+750insAAGGAAGGCAGG	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC38_chr12_95862048_95947614	95916379	G G	GCCTTCCT others(5): Show GCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG01081.hp1 others(8): Show HG00423.hp2 HG00544.hp2 HG01081.hp1 HG01358.hp1 HG02109.hp2 HG02976.hp1 HG03669.hp1 NA18940.hp2 NA18964.hp2 NA18969.hp1 NA18970.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0001c0005 a0002c0003 others(2): Show a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0007c0015	a0001c0002t0001 a0001c0005t0001 a0002c0003t0001 others(3): Show a0001c0002t0001 a0001c0005t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0002 a0007c0015t0001	a0001c0002t0001g0117 a0001c0005t0001g0235 a0002c0003t0001g0022 others(8): Show a0001c0002t0001g0117 a0001c0005t0001g0235 a0002c0003t0001g0022 a0002c0003t0001g0183 a0002c0003t0002g0291 a0002c0003t0002g0292 a0002c0003t0002g0317 a0002c0003t0002g0335 a0002c0003t0002g0336 a0002c0004t0002g0290 a0007c0015t0001g0169	11	350	0.0314	12	c.304 others(27): Show c.304+738_304+749dupAAGGAAGGAAGG	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC38_chr12_95862048_95947614	95944327	T T	TTTTATTT others(5): Show TTTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	350	0.0029	12	c.-19 others(23): Show c.-1923_-1912dupTAAATAAATAAA	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding		1714		chr12	TogoVar
CCDC38_chr12_95862048_95947614	95946061	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0020 a0001c0014t0001g0020	1	350	0.0029	12	c.-36 others(23): Show c.-3657_-3646dupCACACACACACA	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding		3448		chr12	TogoVar
CCDC38_chr12_95862048_95947614	95946576	G G	GCTCCCCC others(5): Show GCTCCCCCTCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG02698.hp1 HG02818.hp1 others(2): Show HG01074.hp1 HG02698.hp1 HG02818.hp1 HG03490.hp1 HG03492.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0008c0016	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0008c0016t0001	a0001c0001t0001g0028 a0001c0002t0001g0204 a0001c0007t0001g0004 others(1): Show a0001c0001t0001g0028 a0001c0002t0001g0204 a0001c0007t0001g0004 a0008c0016t0001g0213	5	350	0.0143	12	c.-41 others(23): Show c.-4172_-4161dupGGGGAGGGGGAG	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding		3963		chr12	TogoVar
CCDC39_chr3_180609008_180684489	180677168	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03688.hp1 NA18961.hp2 others(3): Show HG02055.hp2 HG03688.hp1 NA18961.hp2 NA18983.hp2 NA19055.hp1 NA19074.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0015 a0001c0001 a0005c0015	a0001c0001t0001 a0001c0001t0003 a0005c0015t0001 a0001c0001t0001 a0001c0001t0003 a0005c0015t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(3): Show a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0003g0240 a0005c0015t0001g0176	6	254	0.0236	12	c.90+ others(27): Show c.90+2111_90+2122dupTATATATATATA	CCDC39	ENSG00000284862.3	transcript	ENST00000476379.6	protein_coding	1/19			chr3	TogoVar
CCDC39_chr3_180609008_180684489	180682873	C C	CTCTCTGT others(5): Show CTCTCTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0002 a0008c0023t0002	a0008c0023t0002g0127 a0008c0023t0002g0127	1	254	0.0039	12	c.-34 others(23): Show c.-3494_-3493insCACACACAGAGA	CCDC39	ENSG00000284862.3	transcript	ENST00000476379.6	protein_coding		3385		chr3	TogoVar
CCDC3_chr10_12891625_13006713	12896722	T T	TTCCCTTA others(5): Show TTCCCTTAGCCTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG01243.hp1 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0011 a0001c0001t0015g0271 a0001c0001t0015g0011 a0001c0001t0015g0271	2	392	0.0051	12	c.16 others(23): Show c.1693_*1694insCAGGCTAAGGGA	CCDC3	ENSG00000151468.11	transcript	ENST00000378825.5	protein_coding	3/3	1693		chr10	TogoVar
CCDC3_chr10_12891625_13006713	12904468	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01952.hp1 HG02257.hp2 others(10): Show HG01258.hp1 HG01952.hp1 HG02257.hp2 HG03130.hp1 HG03239.hp2 HG03491.hp2 HG03516.hp2 HG03579.hp2 HG04115.hp1 NA18944.hp2 NA18967.hp1 NA19054.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0026	a0001c0001t0002g0225 a0001c0001t0002g0256 a0001c0001t0002g0349 others(10): Show a0001c0001t0002g0225 a0001c0001t0002g0256 a0001c0001t0002g0349 a0001c0001t0002g0353 a0001c0001t0003g0107 a0001c0001t0003g0130 a0001c0001t0003g0148 a0001c0001t0003g0171 a0001c0001t0003g0333 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0010g0377 a0001c0001t0026g0025	13	392	0.0332	12	c.550 others(29): Show c.550-5801_550-5790dupTTTTTTTTTTTT	CCDC3	ENSG00000151468.11	transcript	ENST00000378825.5	protein_coding	2/2			chr10	TogoVar
CCDC3_chr10_12891625_13006713	12960168	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG00741.hp1 others(16): Show HG00621.hp1 HG00735.hp1 HG00741.hp1 HG01167.hp2 HG01192.hp1 HG02027.hp1 HG04184.hp1 NA18612.hp2 NA18942.hp1 NA18948.hp1 NA18962.hp2 NA18968.hp2 NA18979.hp2 NA18991.hp1 NA18992.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(16): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0116 a0001c0001t0001g0206 a0001c0001t0002g0071 a0001c0001t0002g0077 a0001c0001t0002g0120 a0001c0001t0002g0210 a0001c0001t0002g0270 a0001c0001t0003g0072 a0001c0001t0003g0125 a0001c0001t0003g0196 a0001c0001t0004g0079 a0001c0001t0004g0372	19	392	0.0485	12	c.549 others(31): Show c.549+38158_549+38169dupGTGTGTGTGTGT	CCDC3	ENSG00000151468.11	transcript	ENST00000378825.5	protein_coding	2/2			chr10	TogoVar
CCDC3_chr10_12891625_13006713	12968202	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01361.hp1 others(12): Show HG00323.hp1 HG00642.hp2 HG01361.hp1 HG02055.hp1 HG02083.hp1 HG02145.hp1 HG02976.hp1 HG03130.hp1 HG03209.hp1 HG03831.hp1 NA18950.hp1 NA19030.hp1 NA19082.hp2 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0017 a0001c0001t0021 a0001c0001t0028	a0001c0001t0001g0042 a0001c0001t0001g0111 a0001c0001t0001g0242 others(12): Show a0001c0001t0001g0042 a0001c0001t0001g0111 a0001c0001t0001g0242 a0001c0001t0001g0276 a0001c0001t0001g0295 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0004g0219 a0001c0001t0004g0376 a0001c0001t0004g0379 a0001c0001t0005g0378 a0001c0001t0010g0377 a0001c0001t0017g0167 a0001c0001t0021g0375 a0001c0001t0028g0279	15	392	0.0383	12	c.549 others(31): Show c.549+30124_549+30135dupGTGTGTGTGTGT	CCDC3	ENSG00000151468.11	transcript	ENST00000378825.5	protein_coding	2/2			chr10	TogoVar
CCDC3_chr10_12891625_13006713	12983128	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01891.hp1 HG02602.hp1 others(3): Show HG00408.hp1 HG01891.hp1 HG02602.hp1 HG02818.hp1 HG04199.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0033 a0001c0001t0001g0116 a0001c0001t0001g0178 others(3): Show a0001c0001t0001g0033 a0001c0001t0001g0116 a0001c0001t0001g0178 a0001c0001t0003g0127 a0001c0001t0004g0287 a0001c0001t0006g0119	6	392	0.0153	12	c.549 others(31): Show c.549+15209_549+15210insTATATATATATA	CCDC3	ENSG00000151468.11	transcript	ENST00000378825.5	protein_coding	2/2			chr10	TogoVar
CCDC3_chr10_12891625_13006713	12983152	A A	ATATATAT others(5): Show ATATATATATATC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	392	0.0026	12	c.549 others(31): Show c.549+15185_549+15186insGATATATATATA	CCDC3	ENSG00000151468.11	transcript	ENST00000378825.5	protein_coding	2/2			chr10	TogoVar
CCDC40_chr17_80031642_80105613	80037686	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG01952.hp2 others(6): Show HG00609.hp1 HG00735.hp1 HG01952.hp2 HG03225.hp2 NA18944.hp1 NA18950.hp2 NA18973.hp1 NA19066.hp2 NA19090.hp2	a0001 a0016 a0027 a0001 a0016 a0027	a0001c0002 a0001c0059 a0016c0036 others(1): Show a0001c0002 a0001c0059 a0016c0036 a0027c0064	a0001c0002t0003 a0001c0059t0002 a0016c0036t0002 others(1): Show a0001c0002t0003 a0001c0059t0002 a0016c0036t0002 a0027c0064t0003	a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 others(6): Show a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0059t0002g0223 a0016c0036t0002g0222 a0027c0064t0003g0228	9	378	0.0238	12	c.30- others(25): Show c.30-436_30-435insTATATATATATA	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80037688	A A	AAAAAATA others(5): Show AAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG03139.hp2 others(1): Show HG01168.hp1 HG01169.hp2 HG03139.hp2 HG03209.hp2	a0002 a0028 a0002 a0028	a0002c0019 a0028c0057 a0002c0019 a0028c0057	a0002c0019t0002 a0028c0057t0001 a0002c0019t0002 a0028c0057t0001	a0002c0019t0002g0123 a0002c0019t0002g0125 a0002c0019t0002g0126 others(1): Show a0002c0019t0002g0123 a0002c0019t0002g0125 a0002c0019t0002g0126 a0028c0057t0001g0124	4	378	0.0106	12	c.30- others(25): Show c.30-434_30-433insAAAATATATATA	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80037690	G G	GATATATA others(5): Show GATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00597.hp1 others(11): Show HG00408.hp2 HG00558.hp1 HG00597.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01993.hp2 HG02896.hp2 HG03540.hp2 HG03942.hp1 NA18967.hp1 NA18983.hp1 NA18999.hp2 NA19004.hp1	a0000 a0001 a0002 others(3): Show a0000 a0001 a0002 a0003 a0005 a0023	a0000c0072 a0001c0001 a0001c0004 others(5): Show a0000c0072 a0001c0001 a0001c0004 a0001c0022 a0002c0020 a0003c0034 a0005c0012 a0023c0071	a0000c0072t0002 a0001c0001t0001 a0001c0004t0002 others(5): Show a0000c0072t0002 a0001c0001t0001 a0001c0004t0002 a0001c0022t0004 a0002c0020t0002 a0003c0034t0013 a0005c0012t0007 a0023c0071t0002	a0000c0072t0002g0308 a0001c0001t0001g0060 a0001c0001t0001g0061 others(11): Show a0000c0072t0002g0308 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0004t0002g0311 a0001c0004t0002g0354 a0001c0004t0002g0355 a0001c0004t0002g0356 a0001c0004t0002g0357 a0001c0022t0004g0192 a0002c0020t0002g0309 a0002c0020t0002g0310 a0003c0034t0013g0306 a0005c0012t0007g0059 a0023c0071t0002g0307	14	378	0.0370	12	c.30- others(25): Show c.30-428_30-427insTATATATATATA	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80046532	C C	CAATAATA others(5): Show CAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00558.hp1 others(34): Show HG00099.hp2 HG00408.hp2 HG00558.hp1 HG01516.hp2 HG01517.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02080.hp1 HG02258.hp2 HG02630.hp1 HG02896.hp2 HG02965.hp2 HG03239.hp1 HG03654.hp1 HG03831.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18952.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18986.hp2 NA18989.hp1 NA18992.hp2 NA18999.hp2 NA19004.hp1 NA19057.hp1 NA19060.hp1 NA19068.hp1 NA19082.hp2 NA19091.hp1	a0000 a0001 a0002 others(3): Show a0000 a0001 a0002 a0011 a0013 a0037	a0000c0072 a0001c0004 a0001c0014 others(7): Show a0000c0072 a0001c0004 a0001c0014 a0001c0038 a0001c0073 a0001c0075 a0002c0020 a0011c0037 a0013c0029 a0037c0043	a0000c0072t0002 a0001c0004t0002 a0001c0004t0011 others(8): Show a0000c0072t0002 a0001c0004t0002 a0001c0004t0011 a0001c0014t0003 a0001c0038t0001 a0001c0073t0002 a0001c0075t0010 a0002c0020t0002 a0011c0037t0003 a0013c0029t0001 a0037c0043t0001	a0000c0072t0002g0308 a0001c0004t0002g0270 a0001c0004t0002g0311 others(34): Show a0000c0072t0002g0308 a0001c0004t0002g0270 a0001c0004t0002g0311 a0001c0004t0002g0341 a0001c0004t0002g0343 a0001c0004t0002g0345 a0001c0004t0002g0350 a0001c0004t0002g0351 a0001c0004t0002g0354 a0001c0004t0002g0355 a0001c0004t0002g0356 a0001c0004t0002g0357 a0001c0004t0002g0358 a0001c0004t0002g0360 a0001c0004t0002g0363 a0001c0004t0002g0364 a0001c0004t0002g0365 a0001c0004t0002g0368 a0001c0004t0002g0369 a0001c0004t0002g0375 a0001c0004t0002g0376 a0001c0004t0002g0377 a0001c0004t0011g0373 a0001c0014t0003g0366 a0001c0014t0003g0367 a0001c0014t0003g0378 a0001c0038t0001g0346 a0001c0038t0001g0349 a0001c0073t0002g0344 a0001c0075t0010g0352 a0002c0020t0002g0296 a0002c0020t0002g0309 a0002c0020t0002g0310 a0011c0037t0003g0347 a0011c0037t0003g0359 a0013c0029t0001g0187 a0037c0043t0001g0342	37	378	0.0979	12	c.553 others(27): Show c.553-732_553-721dupTAATAATAATAA	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80051720	A A	AGTGGATG others(5): Show AGTGGATGTCACT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG01891.hp1 HG02622.hp2	a0001 a0030 a0001 a0030	a0001c0011 a0030c0068 a0001c0011 a0030c0068	a0001c0011t0001 a0030c0068t0001 a0001c0011t0001 a0030c0068t0001	a0001c0011t0001g0213 a0030c0068t0001g0214 a0001c0011t0001g0213 a0030c0068t0001g0214	2	378	0.0053	12	c.115 others(31): Show c.1159+1437_1159+1438insGTGGATGTCACT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19			chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056010	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0001 a0012c0028t0001	a0012c0028t0001g0313 a0012c0028t0001g0313	1	378	0.0027	12	c.116 others(31): Show c.1160-2483_1160-2482insTTTTTTTTTTTT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056012	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0007 a0005c0012t0007	a0005c0012t0007g0038 a0005c0012t0007g0038	1	378	0.0027	12	c.116 others(31): Show c.1160-2481_1160-2480insTTTTTTTTTTTT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056014	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0371 a0001c0014t0002g0371	1	378	0.0027	12	c.116 others(31): Show c.1160-2479_1160-2478insTTTTTTTTTTTT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATTTTT others(5): Show ATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0002 a0002c0020t0002	a0002c0020t0002g0300 a0002c0020t0002g0300	1	378	0.0027	12	c.116 others(31): Show c.1160-2477_1160-2476insATTTTTTTTTTT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0002 a0002c0018t0002	a0002c0018t0002g0054 a0002c0018t0002g0054	1	378	0.0027	12	c.116 others(31): Show c.1160-2474_1160-2463dupTTTTTTTTTTTT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80061856	T T	TCCCTAAC others(5): Show TCCCTAACCCTAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp1 HG01884.hp1 others(20): Show HG01243.hp1 HG01261.hp1 HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02630.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03540.hp1 HG03942.hp1 HG04204.hp1 NA18522.hp1 NA18989.hp1 NA20129.hp1	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0013 a0015 a0024 a0026	a0001c0004 a0001c0009 a0001c0022 others(8): Show a0001c0004 a0001c0009 a0001c0022 a0001c0023 a0001c0050 a0002c0049 a0006c0048 a0013c0029 a0015c0030 a0024c0046 a0026c0045	a0001c0004t0002 a0001c0009t0004 a0001c0022t0004 others(8): Show a0001c0004t0002 a0001c0009t0004 a0001c0022t0004 a0001c0023t0002 a0001c0050t0001 a0002c0049t0002 a0006c0048t0001 a0013c0029t0001 a0015c0030t0001 a0024c0046t0009 a0026c0045t0001	a0001c0004t0002g0377 a0001c0009t0004g0196 a0001c0009t0004g0201 others(20): Show a0001c0004t0002g0377 a0001c0009t0004g0196 a0001c0009t0004g0201 a0001c0009t0004g0202 a0001c0009t0004g0203 a0001c0009t0004g0204 a0001c0009t0004g0205 a0001c0009t0004g0206 a0001c0009t0004g0207 a0001c0022t0004g0189 a0001c0022t0004g0191 a0001c0022t0004g0192 a0001c0023t0002g0197 a0001c0023t0002g0199 a0001c0023t0002g0200 a0001c0050t0001g0193 a0002c0049t0002g0194 a0006c0048t0001g0198 a0013c0029t0001g0187 a0013c0029t0001g0208 a0015c0030t0001g0190 a0024c0046t0009g0195 a0026c0045t0001g0315	23	378	0.0609	12	c.144 others(31): Show c.1440+2886_1440+2897dupTAACCCTAACCC	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80081387	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp1 HG02055.hp1 others(15): Show HG01074.hp1 HG01243.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02451.hp1 HG02615.hp1 HG02683.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 NA18522.hp1 NA18962.hp2 NA20129.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0015	a0001c0002 a0001c0009 a0001c0014 others(4): Show a0001c0002 a0001c0009 a0001c0014 a0001c0050 a0002c0049 a0007c0017 a0015c0030	a0001c0002t0003 a0001c0009t0004 a0001c0014t0002 others(4): Show a0001c0002t0003 a0001c0009t0004 a0001c0014t0002 a0001c0050t0001 a0002c0049t0002 a0007c0017t0003 a0015c0030t0003	a0001c0002t0003g0274 a0001c0009t0004g0196 a0001c0009t0004g0201 others(15): Show a0001c0002t0003g0274 a0001c0009t0004g0196 a0001c0009t0004g0201 a0001c0009t0004g0202 a0001c0009t0004g0203 a0001c0009t0004g0204 a0001c0009t0004g0205 a0001c0009t0004g0206 a0001c0009t0004g0207 a0001c0014t0002g0361 a0001c0014t0002g0371 a0001c0050t0001g0193 a0002c0049t0002g0194 a0007c0017t0003g0322 a0007c0017t0003g0325 a0007c0017t0003g0326 a0007c0017t0003g0331 a0015c0030t0003g0188	18	378	0.0476	12	c.156 others(29): Show c.1563-144_1563-133dupATAAATAAATAA	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC42_chr17_8724935_8749836	8728126	T T	TCCACCCA others(5): Show TCCACCCATCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03225.hp1 HG03453.hp2 others(1): Show HG02886.hp2 HG03225.hp1 HG03453.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0051 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0051	4	410	0.0098	12	c.20 others(23): Show c.2003_*2004insGTGGATGGGTGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		1808		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8728171	C C	CCATCCAT others(5): Show CCATCCATCTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00597.hp1 others(49): Show HG00323.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG01123.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01934.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02129.hp1 HG02165.hp1 HG02300.hp1 HG02738.hp1 HG02886.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18950.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18978.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19077.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0051 a0002c0002t0001g0005 a0002c0002t0001g0006 others(22): Show a0001c0001t0002g0051 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0017 a0002c0002t0001g0029 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0164	52	410	0.1268	12	c.19 others(23): Show c.1958_*1959insTAGAGATGGATG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		1763		chr17	TogoVar
CCDC47_chr17_63740255_63778597	63751365	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01516.hp2 HG01934.hp1 others(2): Show HG01123.hp2 HG01516.hp2 HG01934.hp1 HG02273.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0104 a0001c0001t0001g0121	5	352	0.0142	12	c.137 others(29): Show c.1371+563_1371+574dupTTTTTTTTTTTT	CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	12/12			chr17	TogoVar
CCDC47_chr17_63740255_63778597	63765120	C C	CCACACAC others(5): Show CCACACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02486.hp2 others(6): Show HG02145.hp1 HG02257.hp1 HG02486.hp2 HG02572.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0002t0003 a0001c0001t0003 a0001c0001t0009 a0001c0002t0003	a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 others(6): Show a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0343 a0001c0001t0009g0009 a0001c0002t0003g0235	9	352	0.0256	12	c.265 others(27): Show c.265-285_265-274dupTGTGTGTGTGTG	CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	2/12			chr17	TogoVar
CCDC47_chr17_63740255_63778597	63771045	G G	GAAGAAAG others(5): Show GAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18992.hp2 HG01891.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0042 a0001c0001t0001g0044	2	352	0.0057	12	c.-20 others(29): Show c.-20+2355_-20+2366dupTCTTTCTTTCTT	CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	1/12			chr17	TogoVar
CCDC47_chr17_63740255_63778597	63771045	G G	GAAGGAAG others(5): Show GAAGGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp1 HG02647.hp2 others(3): Show HG02257.hp2 HG02647.hp1 HG02647.hp2 HG02818.hp1 HG02896.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 others(3): Show a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0239	6	352	0.0171	12	c.-20 others(29): Show c.-20+2366_-20+2367insTCTTTCTTCCTT	CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	1/12			chr17	TogoVar

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