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
CDC14A_chr1_100347506_100525277	100459086	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03453.hp2 HG03516.hp1 others(4): Show HG00741.hp2 HG03453.hp2 HG03516.hp1 NA18953.hp1 NA18971.hp1 NA19064.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0010 a0001c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002	a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0116 others(4): Show a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0010g0079 a0001c0002t0001g0078 a0001c0002t0001g0165 a0001c0002t0002g0088	7	306	0.0229	16	c.608 others(33): Show c.608-3551_608-3550insACACACACACACACAC	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC14A_chr1_100347506_100525277	100491548	C C	CTCTCTCT others(9): Show CTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	306	0.0033	16	c.113 others(35): Show c.1138-3269_1138-3268insCTCTCTCTATATATAT	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC14A_chr1_100347506_100525277	100491548	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0122 a0001c0001t0020g0122	1	306	0.0033	16	c.113 others(35): Show c.1138-3269_1138-3268insCTCTCTCTCTCTCTAT	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC14B_chr9_96495113_96624843	96551111	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02683.hp2 HG02723.hp2 others(1): Show HG01167.hp2 HG02683.hp2 HG02723.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0157 a0001c0001t0003g0110 a0001c0001t0003g0131 others(1): Show a0001c0001t0001g0157 a0001c0001t0003g0110 a0001c0001t0003g0131 a0001c0002t0002g0200	4	220	0.0182	16	c.497 others(31): Show c.497+669_497+684dupAAAAAAAAAAAAAAAA	CDC14B	ENSG00000081377.17	transcript	ENST00000375241.6	protein_coding	5/13			chr9	TogoVar
CDC14B_chr9_96495113_96624843	96606527	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	220	0.0046	16	c.160 others(35): Show c.160+12676_160+12691dupCACACACACACACACA	CDC14B	ENSG00000081377.17	transcript	ENST00000375241.6	protein_coding	1/13			chr9	TogoVar
CDC16_chr13_114229897_114277723	114231474	T T	TGGAGGTG others(9): Show TGGAGGTGGGGCTGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	380	0.0026	16	c.-36 others(27): Show c.-3611_-3610insGGAGGTGGGGCTGGTG	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3422		chr13	TogoVar
CDC25A_chr3_48152146_48193417	48168360	C C	CCACACAC others(9): Show CCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG04115.hp2 HG04184.hp1 others(7): Show HG01099.hp1 HG04115.hp2 HG04184.hp1 NA18959.hp1 NA18961.hp1 NA18967.hp1 NA19006.hp2 NA19065.hp2 NA19067.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0097 a0001c0001t0001g0144 others(6): Show a0001c0001t0001g0024 a0001c0001t0001g0097 a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0001t0001g0183 a0001c0001t0001g0202 a0001c0001t0001g0217 a0001c0001t0001g0242 a0001c0001t0001g0261	10	340	0.0294	16	c.931 others(31): Show c.931-432_931-417dupTGTGTGTGTGTGTGTG	CDC25A	ENSG00000164045.12	transcript	ENST00000302506.8	protein_coding	9/14			chr3	TogoVar
CDC25C_chr5_138280269_138336804	138313963	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01884.hp1 others(21): Show HG01516.hp2 HG01517.hp1 HG01884.hp1 HG02015.hp2 HG02280.hp1 HG02647.hp1 HG02896.hp1 HG03831.hp1 HG03927.hp2 NA18941.hp1 NA18948.hp2 NA18954.hp1 NA18971.hp1 NA18974.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19063.hp1 NA19075.hp1 NA19086.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 a0001c0001t0001 a0002c0002t0001 a0002c0002t0007	a0001c0001t0001g0065 a0002c0002t0001g0006 a0002c0002t0001g0201 others(20): Show a0001c0001t0001g0065 a0002c0002t0001g0006 a0002c0002t0001g0201 a0002c0002t0001g0205 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0220 a0002c0002t0001g0223 a0002c0002t0001g0231 a0002c0002t0001g0244 a0002c0002t0001g0253 a0002c0002t0001g0266 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0303 a0002c0002t0001g0305 a0002c0002t0001g0321 a0002c0002t0001g0332 a0002c0002t0001g0335 a0002c0002t0001g0338 a0002c0002t0007g0290	24	362	0.0663	16	c.615 others(33): Show c.615+5240_615+5255dupGAAAGAAAGAAAGAAA	CDC25C	ENSG00000158402.21	transcript	ENST00000323760.11	protein_coding	7/13			chr5	TogoVar
CDC27_chr17_47112703_47194295	47124178	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19085.hp1 homoSapiens_chm13v2.hp1 HG01243.hp2 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0268 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0001g0268 a0001c0001t0003g0061 a0001c0001t0003g0062	3	358	0.0084	16	c.216 others(33): Show c.2161-234_2161-219dupGTGTGTGTGTGTGTGT	CDC27	ENSG00000004897.12	transcript	ENST00000066544.8	protein_coding	16/18			chr17	TogoVar
CDC27_chr17_47112703_47194295	47124256	C C	CATCTATC others(9): Show CATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp1 HG01109.hp2 others(52): Show HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG02015.hp1 HG02257.hp1 HG02280.hp2 HG02293.hp2 HG02615.hp1 HG02647.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp2 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG06807.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp2 NA18954.hp1 NA18968.hp2 NA18978.hp2 NA18983.hp2 NA18984.hp1 NA18987.hp2 NA18988.hp2 NA18991.hp1 NA18995.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19030.hp1 NA19054.hp1 NA19066.hp1 NA19070.hp1 NA19076.hp2 NA19077.hp1 NA19084.hp2 NA19086.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0021 a0001c0002t0005 a0001c0003t0006 a0001c0007t0001	a0001c0001t0002g0282 a0001c0001t0002g0285 a0001c0001t0002g0287 others(51): Show a0001c0001t0002g0282 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0322 a0001c0001t0002g0325 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0003g0053 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0004g0014 a0001c0001t0004g0022 a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0008g0110 a0001c0001t0008g0111 a0001c0001t0008g0115 a0001c0001t0021g0351 a0001c0002t0005g0037 a0001c0003t0006g0003 a0001c0007t0001g0033	55	358	0.1536	16	c.216 others(33): Show c.2161-312_2161-297dupAGATAGATAGATAGAT	CDC27	ENSG00000004897.12	transcript	ENST00000066544.8	protein_coding	16/18			chr17	TogoVar
CDC27_chr17_47112703_47194295	47132988	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0039 a0001c0002t0005g0039	1	358	0.0028	16	c.191 others(33): Show c.1914-630_1914-615dupATATATATATATATAT	CDC27	ENSG00000004897.12	transcript	ENST00000066544.8	protein_coding	14/18			chr17	TogoVar
CDC27_chr17_47112703_47194295	47133028	T T	TATATATA others(9): Show TATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	358	0.0028	16	c.191 others(33): Show c.1914-655_1914-654insGTGTGTGTGTATATAT	CDC27	ENSG00000004897.12	transcript	ENST00000066544.8	protein_coding	14/18			chr17	TogoVar
CDC27_chr17_47112703_47194295	47133028	T T	TATATATA others(9): Show TATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	358	0.0028	16	c.191 others(33): Show c.1914-655_1914-654insGTGTATATATATATAT	CDC27	ENSG00000004897.12	transcript	ENST00000066544.8	protein_coding	14/18			chr17	TogoVar
CDC27_chr17_47112703_47194295	47133028	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	358	0.0028	16	c.191 others(33): Show c.1914-655_1914-654insGTATATATATATATAT	CDC27	ENSG00000004897.12	transcript	ENST00000066544.8	protein_coding	14/18			chr17	TogoVar
CDC27_chr17_47112703_47194295	47175039	G G	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02280.hp2 HG01069.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0220 a0001c0001t0008g0115 a0001c0001t0001g0220 a0001c0001t0008g0115	2	358	0.0056	16	c.104 others(33): Show c.104-2991_104-2976dupTCCTTCCTTCCTTCCT	CDC27	ENSG00000004897.12	transcript	ENST00000066544.8	protein_coding	2/18			chr17	TogoVar
CDC37L1_chr9_4674569_4713399	4682329	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp1 HG02976.hp1 others(1): Show HG02280.hp1 HG02615.hp1 HG02976.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0001t0002 a0001c0001t0008 a0001c0001t0013	a0001c0001t0002g0230 a0001c0001t0008g0132 a0001c0001t0008g0133 others(1): Show a0001c0001t0002g0230 a0001c0001t0008g0132 a0001c0001t0008g0133 a0001c0001t0013g0131	4	420	0.0095	16	c.132 others(33): Show c.132+2445_132+2446insTTTTTTTTTTTTTTTT	CDC37L1	ENSG00000106993.12	transcript	ENST00000381854.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
CDC37_chr19_10386133_10408542	10387930	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG03491.hp1 NA19012.hp1 others(1): Show HG02145.hp1 HG03491.hp1 NA19012.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0038 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0004g0108	4	388	0.0103	16	c.36 others(27): Show c.3620_*3621insTTTTTTTTTTTTTTTT	CDC37	ENSG00000105401.9	transcript	ENST00000222005.7	protein_coding		3202		chr19	TogoVar
CDC37_chr19_10386133_10408542	10399931	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00558.hp2 others(36): Show HG00140.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG01106.hp1 HG01169.hp1 HG01256.hp1 HG01346.hp1 HG01358.hp2 HG02027.hp1 HG02027.hp2 HG02080.hp1 HG02257.hp2 HG02683.hp1 HG02818.hp2 HG03130.hp1 HG03239.hp2 HG03490.hp1 HG03704.hp1 HG04204.hp2 NA18944.hp2 NA18950.hp1 NA18967.hp1 NA18974.hp2 NA18981.hp2 NA18988.hp1 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA19003.hp2 NA19004.hp2 NA19012.hp1 NA19054.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19077.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0038 others(18): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0120 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0211	39	388	0.1005	16	c.102 others(33): Show c.102+3431_102+3446dupTTTTTTTTTTTTTTTT	CDC37	ENSG00000105401.9	transcript	ENST00000222005.7	protein_coding	1/7			chr19	TogoVar
CDC42BPA_chr1_226984865_227323492	227042297	G G	GAGATATA others(9): Show GAGATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG00741.hp2 others(6): Show HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01192.hp1 HG02896.hp1 HG02970.hp1 HG03195.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0008 a0001c0008t0009 a0001c0008t0018 a0001c0006t0008 a0001c0008t0009 a0001c0008t0018	a0001c0006t0008g0335 a0001c0006t0008g0339 a0001c0006t0008g0340 others(6): Show a0001c0006t0008g0335 a0001c0006t0008g0339 a0001c0006t0008g0340 a0001c0006t0008g0341 a0001c0006t0008g0343 a0001c0008t0009g0110 a0001c0008t0018g0112 a0001c0008t0018g0113 a0001c0008t0018g0114	9	352	0.0256	16	c.309 others(35): Show c.3094-2062_3094-2061insATATATATATATATCT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	23/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227065097	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0065 a0001c0008t0065	a0001c0008t0065g0350 a0001c0008t0065g0350	1	352	0.0028	16	c.290 others(35): Show c.2904+4664_2904+4679dupATTTATTTATTTATTT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	21/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227100747	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp1 HG01257.hp2 others(10): Show HG00741.hp2 HG01123.hp1 HG01257.hp2 HG01258.hp2 HG01993.hp2 HG02055.hp2 HG03041.hp1 HG03927.hp1 HG04199.hp1 NA18951.hp1 NA18984.hp2 NA19000.hp2 NA19005.hp2	a0001 a0013 a0014 a0001 a0013 a0014	a0001c0001 a0001c0008 a0013c0025 others(1): Show a0001c0001 a0001c0008 a0013c0025 a0014c0024	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0030 a0001c0001t0036 a0001c0001t0048 a0001c0008t0018 a0013c0025t0037 a0014c0024t0054	a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0191 others(10): Show a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0005g0169 a0001c0001t0015g0214 a0001c0001t0030g0201 a0001c0001t0036g0007 a0001c0001t0048g0202 a0001c0008t0018g0112 a0013c0025t0037g0008 a0014c0024t0054g0225	13	352	0.0369	16	c.224 others(33): Show c.2249+229_2249+244dupACACACACACACACAC	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	15/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227114017	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01081.hp1 HG01106.hp1 others(54): Show HG00673.hp1 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01975.hp2 HG01978.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02135.hp2 HG02148.hp2 HG02273.hp1 HG02451.hp1 HG02523.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG03130.hp1 HG03225.hp1 HG03486.hp1 HG03540.hp2 HG04204.hp1 NA18747.hp2 NA18940.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18967.hp2 NA18970.hp2 NA18973.hp1 NA18979.hp2 NA18980.hp1 NA18990.hp2 NA18992.hp1 NA19002.hp1 NA19011.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19083.hp2 NA19088.hp1 NA20905.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0011	a0001c0006 a0001c0008 a0002c0002 others(5): Show a0001c0006 a0001c0008 a0002c0002 a0002c0004 a0002c0029 a0002c0030 a0008c0014 a0011c0028	a0001c0006t0008 a0001c0006t0012 a0001c0008t0009 others(9): Show a0001c0006t0008 a0001c0006t0012 a0001c0008t0009 a0002c0002t0001 a0002c0002t0010 a0002c0002t0062 a0002c0004t0028 a0002c0029t0004 a0002c0030t0010 a0008c0014t0012 a0008c0014t0063 a0011c0028t0012	a0001c0006t0008g0322 a0001c0006t0008g0336 a0001c0006t0012g0325 others(54): Show a0001c0006t0008g0322 a0001c0006t0008g0336 a0001c0006t0012g0325 a0001c0006t0012g0326 a0001c0006t0012g0327 a0001c0006t0012g0329 a0001c0006t0012g0330 a0001c0008t0009g0109 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0245 a0002c0002t0001g0248 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0257 a0002c0002t0001g0260 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0268 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0288 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0002t0010g0242 a0002c0002t0010g0244 a0002c0002t0010g0246 a0002c0002t0010g0258 a0002c0002t0010g0261 a0002c0002t0010g0262 a0002c0002t0010g0266 a0002c0002t0010g0304 a0002c0002t0062g0320 a0002c0004t0028g0030 a0002c0029t0004g0267 a0002c0030t0010g0243 a0008c0014t0012g0324 a0008c0014t0012g0332 a0008c0014t0063g0331 a0011c0028t0012g0328	57	352	0.1619	16	c.164 others(35): Show c.1648-1105_1648-1104insTTTTTTTTTTTTTTTT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	12/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227126464	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01433.hp2 HG02027.hp2 others(13): Show HG00438.hp2 HG01433.hp2 HG02027.hp2 HG02074.hp2 HG02273.hp1 NA18950.hp1 NA18952.hp2 NA18967.hp2 NA18973.hp1 NA18990.hp2 NA19002.hp1 NA19060.hp1 NA19064.hp2 NA19066.hp2 NA19088.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0002t0010 a0002c0004t0028 a0002c0002t0001 a0002c0002t0010 a0002c0004t0028	a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 others(13): Show a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0260 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0271 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0288 a0002c0002t0001g0294 a0002c0002t0001g0303 a0002c0002t0001g0315 a0002c0002t0010g0242 a0002c0004t0028g0030	16	352	0.0455	16	c.151 others(35): Show c.1513+2629_1513+2644dupCCTTCCTTCCTTCCTT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	11/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227129666	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0302 a0002c0002t0001g0302	1	352	0.0028	16	c.139 others(33): Show c.1391-451_1391-436dupTTTTTTTTTTTTTTTT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	10/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227133973	G G	GAATAAAT others(9): Show GAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG01070.hp1 others(49): Show HG00280.hp2 HG00438.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp1 HG01258.hp2 HG01515.hp2 HG01891.hp1 HG01943.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02145.hp1 HG02165.hp1 HG02300.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG03041.hp1 HG03225.hp2 HG03471.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp2 NA18940.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18954.hp2 NA18957.hp2 NA18969.hp1 NA18971.hp1 NA18975.hp2 NA18982.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp2 NA19010.hp2 NA19057.hp2 NA19086.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0013	a0001c0001 a0001c0021 a0002c0004 others(3): Show a0001c0001 a0001c0021 a0002c0004 a0003c0003 a0005c0011 a0013c0025	a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 others(10): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0030 a0001c0001t0041 a0001c0001t0055 a0001c0021t0002 a0002c0004t0025 a0003c0003t0003 a0005c0011t0003 a0013c0025t0037	a0001c0001t0002g0115 a0001c0001t0002g0170 a0001c0001t0002g0171 others(49): Show a0001c0001t0002g0115 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0186 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0203 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0058 a0001c0001t0006g0060 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0006g0067 a0001c0001t0006g0072 a0001c0001t0006g0073 a0001c0001t0006g0074 a0001c0001t0006g0075 a0001c0001t0006g0076 a0001c0001t0011g0050 a0001c0001t0011g0052 a0001c0001t0011g0059 a0001c0001t0011g0063 a0001c0001t0011g0066 a0001c0001t0011g0068 a0001c0001t0011g0069 a0001c0001t0011g0070 a0001c0001t0015g0211 a0001c0001t0015g0214 a0001c0001t0018g0188 a0001c0001t0030g0201 a0001c0001t0041g0043 a0001c0001t0055g0226 a0001c0021t0002g0189 a0002c0004t0025g0207 a0002c0004t0025g0208 a0002c0004t0025g0209 a0003c0003t0003g0159 a0005c0011t0003g0164 a0005c0011t0003g0165 a0005c0011t0003g0166 a0005c0011t0003g0167 a0013c0025t0037g0008	52	352	0.1477	16	c.139 others(35): Show c.1391-4758_1391-4743dupTATTTATTTATTTATT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	10/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227162866	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01123.hp1 HG01257.hp2 others(13): Show HG00735.hp1 HG01123.hp1 HG01257.hp2 HG01981.hp1 HG02922.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG06807.hp1 NA18612.hp2 NA18953.hp2 NA18966.hp2 NA19005.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0013 a0014	a0001c0001 a0002c0004 a0003c0015 others(2): Show a0001c0001 a0002c0004 a0003c0015 a0013c0025 a0014c0024	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0014 a0002c0004t0005 a0002c0004t0023 a0002c0004t0056 a0003c0015t0003 a0013c0025t0037 a0014c0024t0054	a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0005g0169 others(13): Show a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0005g0169 a0001c0001t0011g0070 a0001c0001t0014g0011 a0001c0001t0014g0012 a0001c0001t0014g0013 a0001c0001t0014g0014 a0001c0001t0014g0015 a0002c0004t0005g0103 a0002c0004t0023g0044 a0002c0004t0023g0045 a0002c0004t0056g0227 a0003c0015t0003g0174 a0013c0025t0037g0008 a0014c0024t0054g0225	16	352	0.0455	16	c.600 others(33): Show c.600-2231_600-2230insCACACACACACACACA	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	5/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227162868	A A	ATATGTGT others(9): Show ATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0161 a0001c0001t0047g0161	1	352	0.0028	16	c.600 others(33): Show c.600-2233_600-2232insCACACACACACACATA	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	5/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227162868	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00733.hp1 others(13): Show HG00099.hp1 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG02602.hp1 HG02965.hp2 HG03471.hp2 HG03491.hp1 HG03834.hp2 HG04199.hp2 NA18969.hp2 NA19054.hp1 NA19060.hp2 NA19083.hp1 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0016 others(1): Show a0001c0001 a0001c0007 a0001c0016 a0001c0022	a0001c0001t0028 a0001c0001t0033 a0001c0007t0007 others(6): Show a0001c0001t0028 a0001c0001t0033 a0001c0007t0007 a0001c0007t0017 a0001c0007t0038 a0001c0007t0039 a0001c0016t0029 a0001c0016t0067 a0001c0022t0007	a0001c0001t0028g0021 a0001c0001t0033g0219 a0001c0001t0033g0220 others(13): Show a0001c0001t0028g0021 a0001c0001t0033g0219 a0001c0001t0033g0220 a0001c0007t0007g0022 a0001c0007t0007g0023 a0001c0007t0007g0024 a0001c0007t0007g0025 a0001c0007t0007g0027 a0001c0007t0007g0029 a0001c0007t0017g0016 a0001c0007t0017g0018 a0001c0007t0038g0009 a0001c0007t0039g0041 a0001c0016t0029g0193 a0001c0016t0067g0352 a0001c0022t0007g0020	16	352	0.0455	16	c.600 others(33): Show c.600-2248_600-2233dupCACACACACACACACA	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	5/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227168497	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03098.hp2 HG06807.hp1 HG02280.hp1 HG03098.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0010 a0001c0001t0014g0014 a0001c0001t0014g0015 a0001c0001t0014g0010 a0001c0001t0014g0014 a0001c0001t0014g0015	3	352	0.0085	16	c.600 others(33): Show c.600-7877_600-7862dupAAAAAAAAAAAAAAAA	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	5/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227179635	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG03490.hp1 HG00558.hp1 HG00609.hp2 HG03490.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0239 a0001c0005t0004g0280 a0001c0005t0004g0310 a0001c0005t0004g0239 a0001c0005t0004g0280 a0001c0005t0004g0310	3	352	0.0085	16	c.599 others(35): Show c.599+14135_599+14150dupTTTTTTTTTTTTTTTT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	5/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227179659	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0027 a0001c0006t0027	a0001c0006t0027g0348 a0001c0006t0027g0348	1	352	0.0028	16	c.599 others(35): Show c.599+14126_599+14127insCTTTTTTTTTTTTTTT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	5/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227220282	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0016 a0004c0009t0016	a0004c0009t0016g0002 a0004c0009t0016g0002	1	352	0.0028	16	c.271 others(33): Show c.271-7079_271-7064dupTATATATATATATATA	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	2/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227220282	T T	TTTTATAT others(9): Show TTTTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG06807.hp2 NA19000.hp2 others(2): Show HG03688.hp1 HG06807.hp2 NA19000.hp2 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0036 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0036 a0001c0001t0045	a0001c0001t0002g0190 a0001c0001t0006g0067 a0001c0001t0006g0074 others(2): Show a0001c0001t0002g0190 a0001c0001t0006g0067 a0001c0001t0006g0074 a0001c0001t0036g0007 a0001c0001t0045g0078	5	352	0.0142	16	c.271 others(33): Show c.271-7064_271-7063insTATATATATATATAAA	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	2/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227253607	A A	AATAAATA others(9): Show AATAAATAAATACATAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02735.hp1 HG03654.hp1 others(1): Show HG00558.hp1 HG02735.hp1 HG03654.hp1 NA19082.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0060 a0001c0005t0004 a0001c0005t0060	a0001c0005t0004g0249 a0001c0005t0004g0280 a0001c0005t0004g0283 others(1): Show a0001c0005t0004g0249 a0001c0005t0004g0280 a0001c0005t0004g0283 a0001c0005t0060g0307	4	352	0.0114	16	c.270 others(31): Show c.270+456_270+457insGTATGTATTTATTTAT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	2/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227256938	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02258.hp1 HG02818.hp1 others(2): Show HG01261.hp2 HG02258.hp1 HG02818.hp1 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0064 a0001c0006t0008 a0001c0006t0064	a0001c0006t0008g0337 a0001c0006t0008g0341 a0001c0006t0008g0342 others(2): Show a0001c0006t0008g0337 a0001c0006t0008g0341 a0001c0006t0008g0342 a0001c0006t0008g0345 a0001c0006t0064g0349	5	352	0.0142	16	c.179 others(33): Show c.179-2784_179-2783insGTGTGTGTGTGTGTGT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	1/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227256948	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG06807.hp1 NA18990.hp2 others(2): Show HG02280.hp1 HG06807.hp1 NA18990.hp2 NA19054.hp2 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0002c0002t0001 a0001c0001t0014 a0002c0002t0001	a0001c0001t0014g0010 a0001c0001t0014g0015 a0002c0002t0001g0269 others(2): Show a0001c0001t0014g0010 a0001c0001t0014g0015 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0273	5	352	0.0142	16	c.179 others(33): Show c.179-2809_179-2794dupGTGTGTGTGTGTGTGT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	1/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227261124	C C	CTTTCTTT others(9): Show CTTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02965.hp1 HG02970.hp2 others(1): Show HG02145.hp2 HG02965.hp1 HG02970.hp2 NA21309.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0013 a0002c0002 a0007c0013	a0002c0002t0001 a0007c0013t0026 a0002c0002t0001 a0007c0013t0026	a0002c0002t0001g0231 a0007c0013t0026g0317 a0007c0013t0026g0318 others(1): Show a0002c0002t0001g0231 a0007c0013t0026g0317 a0007c0013t0026g0318 a0007c0013t0026g0319	4	352	0.0114	16	c.179 others(33): Show c.179-6970_179-6969insAAAAAAAAAAAAGAAA	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	1/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227261124	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00558.hp2 others(48): Show HG00140.hp2 HG00438.hp1 HG00558.hp2 HG00642.hp1 HG01074.hp2 HG01099.hp1 HG01169.hp1 HG01433.hp1 HG01496.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp1 HG02080.hp2 HG02148.hp1 HG02257.hp2 HG02523.hp2 HG02630.hp2 HG02818.hp2 HG02886.hp2 HG03098.hp1 HG03195.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 NA18747.hp1 NA18906.hp2 NA18946.hp1 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18988.hp2 NA18992.hp2 NA18995.hp2 NA19002.hp2 NA19005.hp1 NA19006.hp1 NA19010.hp1 NA19064.hp1 NA19077.hp2 NA19086.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0012	a0001c0001 a0003c0003 a0003c0010 others(3): Show a0001c0001 a0003c0003 a0003c0010 a0003c0015 a0005c0011 a0012c0020	a0001c0001t0002 a0001c0001t0009 a0001c0001t0046 others(12): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0046 a0001c0001t0050 a0003c0003t0003 a0003c0003t0013 a0003c0003t0019 a0003c0003t0020 a0003c0003t0024 a0003c0003t0031 a0003c0003t0053 a0003c0010t0003 a0003c0015t0003 a0005c0011t0003 a0012c0020t0003	a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0126 others(48): Show a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0158 a0001c0001t0009g0146 a0001c0001t0009g0156 a0001c0001t0046g0168 a0001c0001t0050g0125 a0003c0003t0003g0116 a0003c0003t0003g0117 a0003c0003t0003g0118 a0003c0003t0003g0119 a0003c0003t0003g0121 a0003c0003t0003g0133 a0003c0003t0003g0135 a0003c0003t0003g0137 a0003c0003t0003g0138 a0003c0003t0003g0140 a0003c0003t0003g0143 a0003c0003t0003g0145 a0003c0003t0003g0148 a0003c0003t0003g0153 a0003c0003t0003g0159 a0003c0003t0003g0204 a0003c0003t0013g0128 a0003c0003t0013g0132 a0003c0003t0013g0136 a0003c0003t0013g0139 a0003c0003t0013g0141 a0003c0003t0013g0142 a0003c0003t0019g0120 a0003c0003t0019g0129 a0003c0003t0019g0130 a0003c0003t0019g0131 a0003c0003t0020g0221 a0003c0003t0020g0222 a0003c0003t0020g0223 a0003c0003t0020g0224 a0003c0003t0024g0150 a0003c0003t0024g0151 a0003c0003t0024g0160 a0003c0003t0031g0212 a0003c0003t0053g0216 a0003c0010t0003g0134 a0003c0015t0003g0147 a0005c0011t0003g0164 a0005c0011t0003g0165 a0005c0011t0003g0166 a0005c0011t0003g0167 a0012c0020t0003g0149	51	352	0.1449	16	c.179 others(33): Show c.179-6970_179-6969insAAAAAAAAAAAAAAAA	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	1/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227297967	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0323 a0001c0006t0012g0323	1	352	0.0028	16	c.178 others(35): Show c.178+19037_178+19038insGTGTGTGTGTGTGTGT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	1/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227297967	T T	TATACACA others(9): Show TATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp2 HG02896.hp2 HG02109.hp1 HG02717.hp2 HG02896.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0012 a0008c0014t0063 a0008c0014t0012 a0008c0014t0063	a0008c0014t0012g0324 a0008c0014t0012g0332 a0008c0014t0063g0331 a0008c0014t0012g0324 a0008c0014t0012g0332 a0008c0014t0063g0331	3	352	0.0085	16	c.178 others(35): Show c.178+19037_178+19038insGTGTGTGTGTGTGTAT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	1/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227297967	T T	TATATACA others(9): Show TATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03130.hp1 HG03225.hp1 others(2): Show HG01106.hp1 HG03130.hp1 HG03225.hp1 HG03486.hp1 HG03540.hp2	a0001 a0011 a0001 a0011	a0001c0006 a0011c0028 a0001c0006 a0011c0028	a0001c0006t0012 a0011c0028t0012 a0001c0006t0012 a0011c0028t0012	a0001c0006t0012g0325 a0001c0006t0012g0326 a0001c0006t0012g0327 others(2): Show a0001c0006t0012g0325 a0001c0006t0012g0326 a0001c0006t0012g0327 a0001c0006t0012g0330 a0011c0028t0012g0328	5	352	0.0142	16	c.178 others(35): Show c.178+19037_178+19038insGTGTGTGTGTGTATAT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	1/36			chr1	TogoVar
CDC42BPB_chr14_102927380_103062549	103056915	C C	CGGGGATG others(9): Show CGGGGATGGGCGGGCGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02055.hp2 others(5): Show HG01167.hp2 HG01169.hp2 HG02055.hp2 HG02109.hp2 HG02717.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0010 a0001c0001t0016 others(2): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0016 a0001c0002t0002 a0001c0002t0008	a0001c0001t0002g0201 a0001c0001t0010g0198 a0001c0001t0010g0199 others(5): Show a0001c0001t0002g0201 a0001c0001t0010g0198 a0001c0001t0010g0199 a0001c0001t0016g0195 a0001c0001t0016g0196 a0001c0001t0016g0197 a0001c0002t0002g0200 a0001c0002t0008g0202	8	320	0.0250	16	c.175 others(29): Show c.175+68_175+83dupACGCCCGCCCATCCCC	CDC42BPB	ENSG00000198752.11	transcript	ENST00000361246.7	protein_coding	1/36			chr14	TogoVar
CDC42EP4_chr17_73278624_73317001	73297001	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp2 HG03139.hp1 others(3): Show HG01106.hp2 HG01891.hp2 HG03139.hp1 NA18522.hp2 NA18991.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0290 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0006g0345	6	408	0.0147	16	c.-11 others(37): Show c.-112-10390_-112-10389insGTTTTTTTTTTTTTTT	CDC42EP4	ENSG00000179604.10	transcript	ENST00000335793.4	protein_coding	1/1			chr17	TogoVar
CDC42EP4_chr17_73278624_73317001	73299442	A A	AAAATACA others(9): Show AAAATACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0355 a0001c0001t0003g0355	1	408	0.0025	16	c.-11 others(37): Show c.-113+12450_-113+12451insGTGTGTGTGTGTATTT	CDC42EP4	ENSG00000179604.10	transcript	ENST00000335793.4	protein_coding	1/1			chr17	TogoVar
CDC42EP4_chr17_73278624_73317001	73299444	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02965.hp2 HG02486.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0030 a0001c0001t0003 a0002c0003t0030	a0001c0001t0003g0038 a0002c0003t0030g0386 a0001c0001t0003g0038 a0002c0003t0030g0386	2	408	0.0049	16	c.-11 others(37): Show c.-113+12433_-113+12448dupGTGTGTGTGTGTGTGT	CDC42EP4	ENSG00000179604.10	transcript	ENST00000335793.4	protein_coding	1/1			chr17	TogoVar
CDC42EP4_chr17_73278624_73317001	73309038	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01496.hp2 HG02717.hp1 others(4): Show HG01358.hp2 HG01496.hp2 HG02717.hp1 HG03130.hp1 HG03688.hp2 NA19054.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0029	a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0002g0170 others(4): Show a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0002g0170 a0001c0001t0003g0169 a0001c0001t0003g0286 a0001c0001t0006g0199 a0001c0001t0029g0378	7	408	0.0172	16	c.-11 others(35): Show c.-113+2839_-113+2854dupTTTTTTTTTTTTTTTT	CDC42EP4	ENSG00000179604.10	transcript	ENST00000335793.4	protein_coding	1/1			chr17	TogoVar
CDC42EP4_chr17_73278624_73317001	73314873	A A	AAAACAAA others(9): Show AAAACAAACAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG00738.hp2 others(36): Show HG00639.hp2 HG00735.hp1 HG00738.hp2 HG01106.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01884.hp2 HG02056.hp1 HG02071.hp1 HG02523.hp2 HG02572.hp2 HG02723.hp1 HG02895.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG04184.hp2 HG04199.hp1 NA18906.hp2 NA18940.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18979.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19083.hp2 NA19091.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0012 a0003c0006 others(1): Show a0001c0001 a0001c0012 a0003c0006 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0028 a0001c0012t0002 a0003c0006t0001 a0004c0005t0002	a0001c0001t0001g0149 a0001c0001t0001g0180 a0001c0001t0001g0182 others(36): Show a0001c0001t0001g0149 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0195 a0001c0001t0001g0227 a0001c0001t0001g0354 a0001c0001t0001g0366 a0001c0001t0002g0050 a0001c0001t0002g0111 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0360 a0001c0001t0002g0363 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0002g0371 a0001c0001t0002g0376 a0001c0001t0002g0377 a0001c0001t0003g0007 a0001c0001t0003g0144 a0001c0001t0003g0160 a0001c0001t0003g0234 a0001c0001t0003g0355 a0001c0001t0005g0150 a0001c0001t0005g0346 a0001c0001t0006g0029 a0001c0001t0006g0340 a0001c0001t0006g0345 a0001c0001t0010g0347 a0001c0001t0010g0357 a0001c0001t0013g0114 a0001c0001t0017g0084 a0001c0001t0028g0372 a0001c0012t0002g0362 a0003c0006t0001g0341 a0003c0006t0001g0342 a0004c0005t0002g0358 a0004c0005t0002g0361	39	408	0.0956	16	c.-30 others(27): Show c.-3094_-3093insGTTTGTTTGTTTGTTT	CDC42EP4	ENSG00000179604.10	transcript	ENST00000335793.4	protein_coding		2873		chr17	TogoVar
CDC42EP5_chr19_54460026_54478296	54468888	A A	ATTCCTTC others(9): Show ATTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG01167.hp2 others(19): Show HG00639.hp1 HG00733.hp2 HG01167.hp2 HG01169.hp1 HG02132.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02735.hp1 HG02886.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03579.hp2 NA18906.hp1 NA19056.hp2 NA19068.hp2 NA19089.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0002c0003t0001 a0001c0001t0001 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0054 others(12): Show a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0223 a0001c0002t0002g0044 a0001c0002t0002g0137 a0001c0002t0002g0145 a0002c0003t0001g0113 a0002c0003t0001g0117 a0002c0003t0001g0118	22	421	0.0523	16	c.-1+ others(31): Show c.-1+2641_-1+2656dupGGAAGGAAGGAAGGAA	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	2/2			chr19	TogoVar
CDC42EP5_chr19_54460026_54478296	54468920	C C	CTTCCTTC others(9): Show CTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0167 a0003c0004t0002g0167	1	421	0.0024	16	c.-1+ others(31): Show c.-1+2624_-1+2625insAGAAAGAAGGAAGGAA	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	2/2			chr19	TogoVar
CDC42EP5_chr19_54460026_54478296	54468920	C C	CTTCCTTC others(9): Show CTTCCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	421	0.0024	16	c.-1+ others(31): Show c.-1+2624_-1+2625insAGAAAGAAAGAAGGAA	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	2/2			chr19	TogoVar

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