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
RAB3C_chr5_58578075_58864394	58797368	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02622.hp1 others(3): Show HG01884.hp2 HG02451.hp1 HG02622.hp1 HG02895.hp2 HG02897.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0019 a0001c0001t0021 others(2): Show a0001c0001t0006 a0001c0001t0019 a0001c0001t0021 a0001c0001t0044 a0001c0002t0011	a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0019g0131 others(3): Show a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0019g0131 a0001c0001t0021g0058 a0001c0001t0044g0172 a0001c0002t0011g0124	6	220	0.0273	9	c.372 others(28): Show c.372-27670_372-27669insTATATATAT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	3/4			chr5	TogoVar
RAB3GAP1_chr2_135047292_135175710	135081327	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02735.hp2 NA18970.hp1 HG01346.hp1 HG02735.hp2 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0024 a0001c0001t0001 a0002c0002t0001 a0002c0002t0024	a0001c0001t0001g0032 a0002c0002t0001g0047 a0002c0002t0024g0108 a0001c0001t0001g0032 a0002c0002t0001g0047 a0002c0002t0024g0108	3	280	0.0107	9	c.151 others(26): Show c.151-9671_151-9670insTATATATAT	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	3/23			chr2	TogoVar
RAB3GAP1_chr2_135047292_135175710	135103035	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02630.hp2 HG02895.hp2 others(14): Show HG00741.hp2 HG02630.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03579.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18947.hp2 NA18979.hp1 NA18982.hp1 NA19007.hp2 NA19030.hp2 NA19070.hp2 NA19079.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0004t0013	a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0147 others(14): Show a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0164 a0001c0001t0002g0177 a0001c0001t0002g0193 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0262 a0001c0001t0004g0265 a0001c0001t0004g0268 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0007g0145 a0001c0001t0007g0154 a0001c0004t0013g0246	17	280	0.0607	9	c.362 others(26): Show c.362+9354_362+9362dupTTTTTTTTT	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB3GAP1_chr2_135047292_135175710	135117409	T T	TTTCTTCT others(2): Show TTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01243.hp1 HG01358.hp1 others(23): Show HG00621.hp2 HG01243.hp1 HG01358.hp1 HG01978.hp1 HG01993.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02258.hp2 HG02451.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02735.hp1 HG02895.hp2 HG02965.hp1 HG03540.hp2 HG04115.hp2 HG04199.hp2 NA18747.hp2 NA18986.hp1 NA19006.hp2 NA19058.hp1 NA19088.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0021 a0001c0008t0008 a0002c0002t0001 a0003c0006t0009	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0049 others(23): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0081 a0001c0001t0001g0132 a0001c0001t0002g0247 a0001c0001t0003g0233 a0001c0001t0003g0242 a0001c0001t0004g0259 a0001c0001t0004g0266 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0006g0225 a0001c0001t0021g0229 a0001c0008t0008g0006 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0083 a0002c0002t0001g0092 a0002c0002t0001g0096 a0002c0002t0001g0099 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0121 a0002c0002t0001g0122 a0003c0006t0009g0251	26	280	0.0929	9	c.648 others(26): Show c.648+2066_648+2074dupTCTTCTTCT	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB3GAP1_chr2_135047292_135175710	135117561	T T	TCTTCTTC others(2): Show TCTTCTTCTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19030.hp2 NA19043.hp2 others(1): Show HG03130.hp2 NA19030.hp2 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0026 a0001c0004t0013 a0001c0004t0026	a0001c0004t0013g0246 a0001c0004t0013g0256 a0001c0004t0013g0257 others(1): Show a0001c0004t0013g0246 a0001c0004t0013g0256 a0001c0004t0013g0257 a0001c0004t0026g0255	4	280	0.0143	9	c.648 others(26): Show c.648+2189_648+2197dupGCTTCTTCT	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB3GAP1_chr2_135047292_135175710	135117663	G G	GCTTCTGC others(2): Show GCTTCTGCTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG00639.hp2 others(27): Show HG00558.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp2 HG01175.hp2 HG01243.hp1 HG01261.hp2 HG01884.hp2 HG01978.hp1 HG02109.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02647.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 NA18747.hp2 NA18906.hp2 NA18981.hp2 NA18987.hp2 NA19083.hp1 NA19084.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0004c0005t0011 a0004c0005t0025	a0001c0001t0002g0247 a0001c0001t0003g0227 a0001c0001t0003g0228 others(27): Show a0001c0001t0002g0247 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0275 a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0006g0239 a0001c0001t0006g0274 a0001c0001t0016g0238 a0001c0001t0016g0241 a0001c0001t0017g0224 a0001c0001t0017g0226 a0001c0001t0021g0229 a0004c0005t0011g0219 a0004c0005t0011g0220 a0004c0005t0011g0222 a0004c0005t0025g0221	30	280	0.1071	9	c.648 others(26): Show c.648+2294_648+2302dupTCTGCTTCT	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB3IL1_chr11_61892301_61922566	61893222	A A	AATCCAGC others(2): Show AATCCAGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02976.hp2 HG03130.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0039 a0001c0001t0005g0127 a0001c0001t0005g0039 a0001c0001t0005g0127	3	392	0.0077	9	c.50 others(20): Show c.5055_*5056insGGGCTGGAT	RAB3IL1	ENSG00000167994.13	transcript	ENST00000394836.7	protein_coding		4078		chr11	TogoVar
RAB40B_chr17_82649973_82703698	82680959	G G	GGCAGAGG others(2): Show GGCAGAGGTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02723.hp2 HG02895.hp1 others(2): Show HG00733.hp1 HG02723.hp2 HG02895.hp1 HG03139.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0044 a0001c0005t0048 a0001c0001t0003 a0001c0001t0044 a0001c0005t0048	a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0299 others(2): Show a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0299 a0001c0001t0044g0065 a0001c0005t0048g0222	5	338	0.0148	9	c.143 others(28): Show c.143-16404_143-16403insAACCTCTGC	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAB44_chr6_36692826_36738184	36702338	G G	GAGAGAGA others(2): Show GAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02135.hp1 HG03688.hp1 others(4): Show HG00544.hp1 HG02135.hp1 HG03688.hp1 NA18961.hp1 NA18970.hp1 NA18985.hp2 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0003 a0001c0002t0006	a0001c0002t0003g0047 a0001c0002t0003g0350 a0001c0002t0003g0351 others(3): Show a0001c0002t0003g0047 a0001c0002t0003g0350 a0001c0002t0003g0351 a0001c0002t0003g0352 a0001c0002t0003g0354 a0001c0002t0006g0353	7	428	0.0164	9	c.-12 others(26): Show c.-12-1885_-12-1884insGAGAGAGAA	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB44_chr6_36692826_36738184	36720183	A A	AGGAGCTA others(2): Show AGGAGCTAAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02615.hp1 others(9): Show HG01891.hp2 HG02280.hp2 HG02615.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG06807.hp1 NA18522.hp2	a0002 a0014 a0002 a0014	a0002c0005 a0002c0026 a0014c0027 a0002c0005 a0002c0026 a0014c0027	a0002c0005t0001 a0002c0005t0008 a0002c0005t0017 others(2): Show a0002c0005t0001 a0002c0005t0008 a0002c0005t0017 a0002c0026t0003 a0014c0027t0001	a0002c0005t0001g0016 a0002c0005t0001g0017 a0002c0005t0001g0069 others(7): Show a0002c0005t0001g0016 a0002c0005t0001g0017 a0002c0005t0001g0069 a0002c0005t0001g0078 a0002c0005t0008g0293 a0002c0005t0008g0294 a0002c0005t0008g0295 a0002c0005t0017g0043 a0002c0026t0003g0308 a0014c0027t0001g0016	12	428	0.0280	9	c.829 others(24): Show c.829-172_829-164dupATGGAGCTA	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB5A_chr3_19942097_19990175	19947266	C C	CCGGCGGC others(2): Show CCGGCGGCGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01255.hp2 HG02293.hp1 HG03710.hp1 others(1): Show HG01255.hp2 HG02293.hp1 HG03710.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0101 a0001c0001t0011g0102 a0001c0001t0011g0103 others(1): Show a0001c0001t0011g0101 a0001c0001t0011g0102 a0001c0001t0011g0103 a0001c0001t0011g0107	4	348	0.0115	9	c.-33 others(18): Show c.-336_-328dupCGGCGGCGG	RAB5A	ENSG00000144566.11	transcript	ENST00000273047.9	protein_coding	1/6	3611	INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB5A_chr3_19942097_19990175	19951701	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02280.hp1 others(10): Show HG01243.hp2 HG02145.hp1 HG02280.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG03225.hp2 HG03540.hp1 NA18522.hp2 NA18948.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009	a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 others(10): Show a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0007g0089 a0001c0001t0008g0037 a0001c0001t0008g0038 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0044 a0001c0001t0008g0045 a0001c0001t0009g0098	13	348	0.0374	9	c.163 others(24): Show c.163+650_163+658dupTTTTTTTTT	RAB5A	ENSG00000144566.11	transcript	ENST00000273047.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB6A_chr11_73670638_73766074	73709437	A A	ATATTATT others(2): Show ATATTATTAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00558.hp1 others(59): Show HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00733.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01934.hp1 HG02040.hp1 HG02055.hp1 HG02280.hp2 HG02293.hp1 HG02559.hp1 HG02622.hp2 HG02717.hp1 HG02818.hp1 HG02922.hp2 HG03017.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18906.hp1 NA18956.hp2 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18972.hp2 NA18974.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18982.hp2 NA18988.hp2 NA19000.hp1 NA19002.hp1 NA19011.hp2 NA19064.hp1 NA19079.hp2 NA19088.hp1 NA19089.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0024	a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0106 others(59): Show a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0331 a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0286 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0306 a0001c0001t0007g0240 a0001c0001t0007g0253 a0001c0001t0008g0128 a0001c0001t0008g0167 a0001c0001t0010g0233 a0001c0001t0024g0257	62	354	0.1751	9	c.402 others(26): Show c.402-1933_402-1925dupATAATAATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	5/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73714207	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02922.hp1 others(3): Show HG02258.hp1 HG02486.hp1 HG02922.hp1 HG03195.hp2 HG03471.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0231 a0001c0001t0002g0248 a0001c0001t0002g0249 others(3): Show a0001c0001t0002g0231 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0019g0251	6	354	0.0170	9	c.401 others(26): Show c.401+2043_401+2044insATATATATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	5/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73714209	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01257.hp1 HG01433.hp1 others(4): Show HG00544.hp2 HG01257.hp1 HG01433.hp1 NA18991.hp1 NA19010.hp2 NA19060.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0073 a0001c0001t0002g0078 others(4): Show a0001c0001t0002g0065 a0001c0001t0002g0073 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0237	7	354	0.0198	9	c.401 others(26): Show c.401+2041_401+2042insATATATATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	5/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73728610	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00544.hp2 others(55): Show HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG01168.hp2 HG01256.hp2 HG01884.hp1 HG01884.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02109.hp2 HG02486.hp2 HG02615.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03831.hp1 HG03942.hp1 HG04184.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18948.hp1 NA18948.hp2 NA18956.hp2 NA18961.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp2 NA18972.hp1 NA18977.hp2 NA18982.hp2 NA18985.hp1 NA18991.hp1 NA19001.hp1 NA19001.hp2 NA19007.hp2 NA19010.hp1 NA19056.hp2 NA19067.hp2 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19088.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0002t0020	a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 others(55): Show a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0189 a0001c0001t0001g0209 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0224 a0001c0001t0002g0231 a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0284 a0001c0001t0002g0290 a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0019 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0059 a0001c0001t0003g0063 a0001c0001t0005g0222 a0001c0001t0005g0303 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0006g0114 a0001c0001t0007g0242 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0255 a0001c0001t0015g0047 a0001c0002t0020g0256	58	354	0.1638	9	c.129 others(26): Show c.129+2146_129+2154dupATTATTATT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	2/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73728615	A A	ATAATAAT others(2): Show ATAATAATAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03139.hp1 HG03195.hp1 others(2): Show HG02965.hp1 HG03139.hp1 HG03195.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0005 others(2): Show a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0007	5	354	0.0141	9	c.129 others(26): Show c.129+2149_129+2150insCTATTATTA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	2/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02148.hp2 NA18970.hp1 others(2): Show HG00140.hp2 HG02148.hp2 NA18970.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0068 a0001c0001t0002g0075 a0001c0001t0002g0082 others(2): Show a0001c0001t0002g0068 a0001c0001t0002g0075 a0001c0001t0002g0082 a0001c0001t0003g0052 a0001c0001t0003g0053	5	354	0.0141	9	c.71- others(24): Show c.71-8462_71-8461insATATATATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73757130	T T	TATATATA others(2): Show TATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02129.hp1 HG02280.hp1 others(2): Show HG01069.hp2 HG02129.hp1 HG02280.hp1 HG03195.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0003g0030 others(2): Show a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0004g0300	5	354	0.0141	9	c.70+ others(24): Show c.70+3435_70+3436insTATATATAT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73762115	G G	GAAAAAAA others(2): Show GAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01123.hp2 HG02055.hp1 others(8): Show HG00544.hp1 HG01123.hp2 HG02055.hp1 HG02280.hp2 HG02293.hp2 HG02622.hp2 HG03486.hp2 NA18944.hp2 NA18969.hp2 NA18995.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0267 others(8): Show a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0267 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0293 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0007g0240 a0001c0001t0007g0253	11	354	0.0311	9	c.-14 others(20): Show c.-1481_-1480insTTTTTTTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding		1042		chr11	TogoVar
RAB7A_chr3_128721183_128819798	128795751	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03139.hp2 HG03225.hp1 others(4): Show HG01255.hp1 HG03139.hp2 HG03225.hp1 HG04184.hp1 NA18947.hp2 NA19006.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0198 others(4): Show a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0198 a0001c0001t0001g0246 a0001c0001t0008g0095 a0001c0001t0008g0096 a0001c0001t0008g0098	7	314	0.0223	9	c.53+ others(22): Show c.53+340_53+348dupTTTTTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB7A_chr3_128721183_128819798	128809936	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01891.hp2 HG02055.hp1 others(4): Show HG00597.hp2 HG01891.hp2 HG02055.hp1 HG02486.hp1 HG02683.hp1 HG03017.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0103 others(4): Show a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0103 a0001c0001t0001g0140 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0004t0002g0059	7	314	0.0223	9	c.528 others(26): Show c.528+2287_528+2295dupTTTTTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB8A_chr19_16106889_16139234	16125561	G G	GCTCCTCC others(2): Show GCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01361.hp1 HG01884.hp1 others(5): Show HG01109.hp1 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG02258.hp2 HG02970.hp2 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012	a0001c0001t0001g0042 a0001c0001t0001g0203 a0001c0001t0001g0205 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0007g0202 a0001c0001t0007g0206 a0001c0001t0010g0204 a0001c0001t0012g0147	8	390	0.0205	9	c.324 others(22): Show c.324+17_324+25dupCCTCCCACT	RAB8A	ENSG00000167461.12	transcript	ENST00000300935.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
RAB9A_chrX_13684128_13715504	13713450	C C	CAAAAAAA others(2): Show CAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01978.hp1 HG02080.hp1 others(7): Show HG01928.hp1 HG01978.hp1 HG02080.hp1 HG03041.hp2 HG03486.hp2 NA18995.hp1 NA19030.hp1 NA19062.hp1 NA19078.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0031 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0141 a0001c0001t0001g0145	10	334	0.0299	9	c.40 others(20): Show c.4098_*4099insAAAAAAAAA	RAB9A	ENSG00000123595.8	transcript	ENST00000464506.2	protein_coding		2947		chrX	TogoVar
RABEP1_chr17_5277284_5391340	5299719	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG04184.hp1 others(4): Show HG00609.hp1 HG00621.hp2 HG04184.hp1 NA18991.hp1 NA19010.hp1 NA19011.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0252 a0001c0004t0002g0002 a0001c0004t0002g0245 others(4): Show a0001c0001t0001g0252 a0001c0004t0002g0002 a0001c0004t0002g0245 a0001c0004t0002g0253 a0001c0004t0002g0257 a0001c0004t0002g0260 a0001c0004t0002g0269	7	352	0.0199	9	c.35- others(24): Show c.35-8970_35-8969insTTTTTTTTT	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
RABEP1_chr17_5277284_5391340	5302244	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(178): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18999.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19072.hp2 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(21): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0003t0010 a0001c0003t0014 a0001c0003t0019 a0001c0004t0002 a0001c0004t0010 a0001c0004t0039 a0001c0005t0005 a0001c0005t0016 a0001c0005t0037 a0001c0005t0038 a0002c0006t0015	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 others(178): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0158 a0001c0001t0001g0171 a0001c0001t0001g0252 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0321 a0001c0001t0001g0325 a0001c0001t0001g0338 a0001c0001t0004g0302 a0001c0001t0007g0064 a0001c0001t0007g0309 a0001c0001t0007g0310 a0001c0001t0007g0312 a0001c0001t0007g0313 a0001c0001t0007g0314 a0001c0001t0007g0315 a0001c0001t0007g0318 a0001c0001t0007g0326 a0001c0001t0007g0328 a0001c0001t0007g0329 a0001c0001t0007g0330 a0001c0001t0007g0337 a0001c0001t0025g0031 a0001c0001t0028g0034 a0001c0001t0029g0081 a0001c0001t0030g0009 a0001c0001t0034g0301 a0001c0001t0035g0046 a0001c0002t0001g0334 a0001c0002t0002g0096 a0001c0002t0004g0307 a0001c0002t0004g0311 a0001c0002t0004g0316 a0001c0002t0004g0322 a0001c0002t0004g0323 a0001c0002t0004g0331 a0001c0002t0006g0003 a0001c0002t0006g0028 a0001c0002t0006g0032 a0001c0002t0006g0044 a0001c0002t0006g0047 a0001c0002t0006g0095 a0001c0002t0006g0097 a0001c0002t0006g0098 a0001c0002t0006g0099 a0001c0002t0006g0101 a0001c0002t0006g0172 a0001c0002t0006g0335 a0001c0003t0010g0010 a0001c0003t0010g0011 a0001c0003t0010g0014 a0001c0003t0014g0327 a0001c0003t0019g0351 a0001c0004t0002g0002 a0001c0004t0002g0061 a0001c0004t0002g0157 a0001c0004t0002g0170 a0001c0004t0002g0243 a0001c0004t0002g0244 a0001c0004t0002g0245 a0001c0004t0002g0246 a0001c0004t0002g0248 a0001c0004t0002g0250 a0001c0004t0002g0251 a0001c0004t0002g0254 a0001c0004t0002g0255 a0001c0004t0002g0256 a0001c0004t0002g0257 a0001c0004t0002g0259 a0001c0004t0002g0260 a0001c0004t0002g0261 a0001c0004t0002g0262 a0001c0004t0002g0263 a0001c0004t0002g0264 a0001c0004t0002g0265 a0001c0004t0002g0266 a0001c0004t0002g0267 a0001c0004t0002g0269 a0001c0004t0002g0297 a0001c0004t0002g0303 a0001c0004t0002g0339 a0001c0004t0010g0234 a0001c0004t0010g0235 a0001c0004t0010g0237 a0001c0004t0010g0238 a0001c0004t0039g0233 a0001c0005t0005g0271 a0001c0005t0005g0272 a0001c0005t0005g0273 a0001c0005t0005g0274 a0001c0005t0005g0277 a0001c0005t0005g0278 a0001c0005t0005g0279 a0001c0005t0005g0280 a0001c0005t0005g0281 a0001c0005t0005g0283 a0001c0005t0005g0285 a0001c0005t0005g0290 a0001c0005t0005g0292 a0001c0005t0005g0340 a0001c0005t0005g0341 a0001c0005t0005g0344 a0001c0005t0005g0345 a0001c0005t0005g0346 a0001c0005t0005g0347 a0001c0005t0016g0287 a0001c0005t0016g0288 a0001c0005t0016g0289 a0001c0005t0037g0270 a0001c0005t0038g0286 a0002c0006t0015g0317 a0002c0006t0015g0342 a0002c0006t0015g0343	181	352	0.5142	9	c.35- others(24): Show c.35-6444_35-6436dupTTTTTTTTT	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
RABEP1_chr17_5277284_5391340	5310301	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01884.hp1 HG02280.hp2 others(7): Show HG01074.hp2 HG01884.hp1 HG02280.hp2 HG02622.hp2 HG02818.hp2 HG03486.hp2 HG03516.hp1 HG04115.hp2 NA18964.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0011 a0001c0002t0004 a0001c0002t0006 others(2): Show a0001c0001t0011 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0004t0002	a0001c0001t0011g0160 a0001c0002t0004g0104 a0001c0002t0004g0123 others(7): Show a0001c0001t0011g0160 a0001c0002t0004g0104 a0001c0002t0004g0123 a0001c0002t0004g0124 a0001c0002t0004g0125 a0001c0002t0004g0126 a0001c0002t0004g0150 a0001c0002t0006g0141 a0001c0002t0008g0153 a0001c0004t0002g0159	10	352	0.0284	9	c.163 others(26): Show c.163+1489_163+1497dupTTTTTTTTT	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
RABEP1_chr17_5277284_5391340	5358427	T T	TGTGATTG others(2): Show TGTGATTGGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02895.hp1 HG02896.hp2 others(2): Show HG02145.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0234 a0001c0004t0010g0235 a0001c0004t0010g0237 others(2): Show a0001c0004t0010g0234 a0001c0004t0010g0235 a0001c0004t0010g0237 a0001c0004t0010g0238 a0001c0004t0010g0239	5	352	0.0142	9	c.109 others(28): Show c.1096-2781_1096-2780insGTGATTGGA	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	8/17			chr17	TogoVar
RABEP2_chr16_28899421_28930238	28929934	A A	AGAGAGAG others(2): Show AGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG04184.hp2 NA18950.hp2 others(3): Show HG02280.hp2 HG04184.hp2 NA18950.hp2 NA18979.hp2 NA18989.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0020 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0154	6	366	0.0164	9	c.-47 others(20): Show c.-4772_-4771insCTCTCTCTC	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4697		chr16	TogoVar
RABGAP1L_chr1_174154520_175000308	174292019	T T	TTTATTAT others(2): Show TTTATTATTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG01069.hp1 others(43): Show HG00323.hp1 HG00544.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01256.hp2 HG01258.hp1 HG01884.hp2 HG01891.hp2 HG02015.hp1 HG02055.hp1 HG02083.hp2 HG02109.hp2 HG02257.hp2 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03654.hp1 HG03710.hp1 HG04184.hp2 NA18522.hp1 NA18906.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18957.hp2 NA18960.hp1 NA18964.hp2 NA18980.hp1 NA19003.hp2 NA19007.hp2 NA19062.hp1 NA19074.hp1 NA19079.hp1 NA19083.hp2 NA19084.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0018 a0001c0001t0038 a0001c0002t0003 a0002c0003t0006 a0002c0003t0015 a0002c0003t0025 a0005c0008t0015	a0001c0001t0001g0069 a0001c0001t0004g0224 a0001c0001t0004g0226 others(43): Show a0001c0001t0001g0069 a0001c0001t0004g0224 a0001c0001t0004g0226 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0240 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0250 a0001c0001t0004g0253 a0001c0001t0004g0255 a0001c0001t0004g0257 a0001c0001t0004g0260 a0001c0001t0004g0263 a0001c0001t0004g0266 a0001c0001t0005g0001 a0001c0001t0005g0140 a0001c0001t0005g0142 a0001c0001t0005g0146 a0001c0001t0005g0148 a0001c0001t0005g0151 a0001c0001t0006g0199 a0001c0001t0007g0159 a0001c0001t0007g0216 a0001c0001t0007g0217 a0001c0001t0007g0219 a0001c0001t0014g0156 a0001c0001t0018g0232 a0001c0001t0018g0234 a0001c0001t0038g0236 a0001c0002t0003g0173 a0002c0003t0006g0077 a0002c0003t0006g0078 a0002c0003t0006g0079 a0002c0003t0006g0080 a0002c0003t0006g0081 a0002c0003t0015g0084 a0002c0003t0015g0085 a0002c0003t0025g0082 a0005c0008t0015g0218	46	272	0.1691	9	c.132 others(30): Show c.1324-12937_1324-12929dupATTATTATT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174474581	C C	CTGATGAT others(2): Show CTGATGATGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01071.hp1 others(8): Show HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01243.hp1 HG02647.hp1 HG02965.hp2 HG02976.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0019 a0001c0001t0007 a0001c0001t0014 a0001c0001t0019	a0001c0001t0007g0159 a0001c0001t0007g0212 a0001c0001t0007g0213 others(8): Show a0001c0001t0007g0159 a0001c0001t0007g0212 a0001c0001t0007g0213 a0001c0001t0007g0216 a0001c0001t0007g0217 a0001c0001t0007g0219 a0001c0001t0007g0220 a0001c0001t0014g0154 a0001c0001t0014g0155 a0001c0001t0014g0156 a0001c0001t0019g0268	11	272	0.0404	9	c.171 others(30): Show c.1710+80444_1710+80452dupGATGATGAT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174534775	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02071.hp2 NA18959.hp2 others(3): Show HG00544.hp2 HG02071.hp2 NA18959.hp2 NA18989.hp2 NA18991.hp1 NA19068.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0007 a0001c0001 a0001c0002 a0006c0007	a0001c0001t0001 a0001c0002t0003 a0006c0007t0003 a0001c0001t0001 a0001c0002t0003 a0006c0007t0003	a0001c0001t0001g0196 a0001c0002t0003g0164 a0001c0002t0003g0174 others(3): Show a0001c0001t0001g0196 a0001c0002t0003g0164 a0001c0002t0003g0174 a0001c0002t0003g0187 a0001c0002t0003g0191 a0006c0007t0003g0208	6	272	0.0221	9	c.171 others(32): Show c.1711-102579_1711-102571dupAAAAAAAAA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174863233	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00673.hp1 others(92): Show HG00280.hp2 HG00408.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01243.hp2 HG01257.hp1 HG01261.hp1 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02523.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA19003.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19063.hp1 NA19064.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19088.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0005 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0002t0003 a0001c0002t0030 a0002c0003t0006 a0003c0004t0001 a0004c0005t0001 a0005c0008t0015	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(92): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0201 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0095 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0001t0002g0136 a0001c0001t0002g0145 a0001c0001t0003g0166 a0001c0001t0005g0001 a0001c0001t0005g0138 a0001c0001t0005g0140 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0151 a0001c0001t0007g0212 a0001c0001t0007g0213 a0001c0001t0007g0216 a0001c0001t0007g0217 a0001c0001t0007g0219 a0001c0001t0009g0063 a0001c0001t0009g0065 a0001c0001t0009g0071 a0001c0001t0010g0203 a0001c0001t0010g0204 a0001c0001t0010g0211 a0001c0001t0010g0221 a0001c0001t0010g0222 a0001c0001t0014g0155 a0001c0001t0022g0200 a0001c0001t0023g0198 a0001c0001t0024g0186 a0001c0001t0029g0271 a0001c0001t0033g0024 a0001c0001t0034g0035 a0001c0001t0035g0070 a0001c0001t0036g0057 a0001c0001t0037g0050 a0001c0001t0039g0046 a0001c0002t0003g0062 a0001c0002t0003g0072 a0001c0002t0030g0064 a0002c0003t0006g0081 a0002c0003t0006g0083 a0003c0004t0001g0027 a0003c0004t0001g0051 a0004c0005t0001g0061 a0005c0008t0015g0218	95	272	0.3493	9	c.234 others(30): Show c.2340+51280_2340+51288dupAAAAAAAAA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174863241	A A	AAAAAAAA others(2): Show AAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00673.hp2 others(13): Show HG00438.hp1 HG00544.hp2 HG00673.hp2 HG02071.hp2 HG02080.hp2 HG02132.hp2 NA18948.hp2 NA18950.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18980.hp2 NA18986.hp1 NA18990.hp2 NA19009.hp1 NA19081.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0007 a0001c0002 a0006c0007	a0001c0002t0003 a0001c0002t0031 a0006c0007t0003 a0001c0002t0003 a0001c0002t0031 a0006c0007t0003	a0001c0002t0003g0010 a0001c0002t0003g0161 a0001c0002t0003g0164 others(13): Show a0001c0002t0003g0010 a0001c0002t0003g0161 a0001c0002t0003g0164 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0174 a0001c0002t0003g0178 a0001c0002t0003g0188 a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0195 a0001c0002t0003g0207 a0001c0002t0031g0209 a0006c0007t0003g0208	16	272	0.0588	9	c.234 others(30): Show c.2340+51288_2340+51289insAGAAAAAAA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174981550	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01358.hp1 HG01943.hp2 others(5): Show HG01109.hp2 HG01358.hp1 HG01943.hp2 HG02015.hp1 HG02080.hp2 HG02559.hp2 NA18950.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0030 a0001c0002t0031 a0001c0002t0003 a0001c0002t0030 a0001c0002t0031	a0001c0002t0003g0025 a0001c0002t0003g0169 a0001c0002t0003g0173 others(5): Show a0001c0002t0003g0025 a0001c0002t0003g0169 a0001c0002t0003g0173 a0001c0002t0003g0178 a0001c0002t0003g0184 a0001c0002t0003g0189 a0001c0002t0030g0064 a0001c0002t0031g0209	8	272	0.0294	9	c.273 others(28): Show c.2734-1261_2734-1253dupTTTTTTTTT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1_chr9_122936020_123109866	123025543	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp1 HG02897.hp2 others(3): Show HG02145.hp1 HG02895.hp1 HG02897.hp2 HG03579.hp2 NA18906.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0023 a0001c0001t0059 others(1): Show a0001c0001t0009 a0001c0001t0023 a0001c0001t0059 a0001c0002t0122	a0001c0001t0009g0009 a0001c0001t0009g0024 a0001c0001t0009g0030 others(3): Show a0001c0001t0009g0009 a0001c0001t0009g0024 a0001c0001t0009g0030 a0001c0001t0023g0010 a0001c0001t0059g0256 a0001c0002t0122g0031	6	258	0.0233	9	c.179 others(28): Show c.1794+5093_1794+5101dupTTTTTTTTT	RABGAP1	ENSG00000011454.18	transcript	ENST00000373647.9	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
RAC1_chr7_6369527_6408967	6407147	A A	AAAATTTT others(2): Show AAAATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00741.hp1 others(28): Show HG00280.hp1 HG00639.hp1 HG00741.hp1 HG01168.hp1 HG01192.hp2 HG01346.hp1 HG02004.hp2 HG02135.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03486.hp1 HG03486.hp2 HG03669.hp2 HG04184.hp2 HG04199.hp1 NA18961.hp1 NA18964.hp1 NA18967.hp2 NA19043.hp1 NA19062.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0020 a0001c0001t0030 a0001c0001t0040 a0001c0001t0049 a0001c0001t0063	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0124 others(23): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0262 a0001c0001t0003g0141 a0001c0001t0016g0126 a0001c0001t0016g0131 a0001c0001t0016g0260 a0001c0001t0016g0261 a0001c0001t0016g0264 a0001c0001t0020g0117 a0001c0001t0030g0232 a0001c0001t0040g0134 a0001c0001t0049g0252 a0001c0001t0063g0263	31	392	0.0791	9	c.47 others(20): Show c.4701_*4702insAAATTTTTT	RAC1	ENSG00000136238.20	transcript	ENST00000348035.9	protein_coding		3181		chr7	TogoVar
RAC1_chr7_6369527_6408967	6407147	A A	AAATTTTT others(2): Show AAATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG02486.hp2 others(2): Show HG01081.hp1 HG01243.hp1 HG02486.hp2 HG03130.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0021 a0001c0001t0056 a0001c0001t0008 a0001c0001t0021 a0001c0001t0056	a0001c0001t0008g0032 a0001c0001t0008g0033 a0001c0001t0021g0019 others(2): Show a0001c0001t0008g0032 a0001c0001t0008g0033 a0001c0001t0021g0019 a0001c0001t0021g0258 a0001c0001t0056g0231	5	392	0.0128	9	c.47 others(20): Show c.4701_*4702insAATTTTTTT	RAC1	ENSG00000136238.20	transcript	ENST00000348035.9	protein_coding		3181		chr7	TogoVar
RAC2_chr22_37220270_37249269	37227085	C C	CCCTCCCA others(2): Show CCCTCCCACG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01884.hp1 HG02027.hp2 others(22): Show HG01099.hp2 HG01884.hp1 HG02027.hp2 HG02040.hp1 HG02145.hp2 HG02280.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03209.hp1 HG06807.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp2 NA19081.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0005 a0001c0001t0005 a0001c0004t0005	a0001c0001t0005g0021 a0001c0001t0005g0058 a0001c0001t0005g0080 others(11): Show a0001c0001t0005g0021 a0001c0001t0005g0058 a0001c0001t0005g0080 a0001c0001t0005g0154 a0001c0001t0005g0204 a0001c0001t0005g0214 a0001c0004t0005g0014 a0001c0004t0005g0044 a0001c0004t0005g0062 a0001c0004t0005g0139 a0001c0004t0005g0141 a0001c0004t0005g0146 a0001c0004t0005g0147 a0001c0004t0005g0171	25	448	0.0558	9	c.449 others(24): Show c.449-291_449-283dupCGTGGGAGG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RAC2_chr22_37220270_37249269	37227302	G G	GCCATACA others(2): Show GCCATACACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0002c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001 a0002c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(79): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0152 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0185 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0220 a0001c0001t0004g0010 a0001c0001t0004g0013 a0001c0001t0004g0020 a0001c0001t0004g0028 a0001c0001t0004g0049 a0001c0001t0004g0063 a0001c0001t0004g0087 a0001c0001t0004g0098 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0122 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0186 a0001c0001t0009g0052 a0001c0001t0009g0203 a0001c0001t0009g0206 a0001c0001t0010g0048 a0001c0001t0012g0118 a0001c0004t0001g0138 a0001c0004t0001g0148 a0001c0004t0001g0151 a0001c0004t0002g0061 a0001c0004t0002g0137 a0001c0007t0001g0069 a0002c0006t0001g0066	196	448	0.4375	9	c.449 others(24): Show c.449-500_449-499insGGTGTATGG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RAC2_chr22_37220270_37249269	37227302	G G	GCTATACA others(2): Show GCTATACACC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01516.hp2 HG01884.hp1 others(22): Show HG01099.hp2 HG01516.hp2 HG01884.hp1 HG02027.hp2 HG02040.hp1 HG02145.hp2 HG02280.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03209.hp1 HG06807.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp2 NA19081.hp2 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0005 a0001c0001t0005 a0001c0004t0005	a0001c0001t0005g0021 a0001c0001t0005g0058 a0001c0001t0005g0080 others(11): Show a0001c0001t0005g0021 a0001c0001t0005g0058 a0001c0001t0005g0080 a0001c0001t0005g0204 a0001c0001t0005g0208 a0001c0001t0005g0214 a0001c0004t0005g0014 a0001c0004t0005g0044 a0001c0004t0005g0062 a0001c0004t0005g0139 a0001c0004t0005g0141 a0001c0004t0005g0146 a0001c0004t0005g0147 a0001c0004t0005g0171	25	448	0.0558	9	c.449 others(24): Show c.449-500_449-499insGGTGTATAG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RAC2_chr22_37220270_37249269	37227302	G G	GTCATACA others(2): Show GTCATACACC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03471.hp2 NA19240.hp1 others(1): Show HG03098.hp1 HG03471.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0009 a0001c0005 a0001c0008 a0001c0009	a0001c0005t0003 a0001c0008t0003 a0001c0009t0006 a0001c0005t0003 a0001c0008t0003 a0001c0009t0006	a0001c0005t0003g0121 a0001c0005t0003g0134 a0001c0008t0003g0217 others(1): Show a0001c0005t0003g0121 a0001c0005t0003g0134 a0001c0008t0003g0217 a0001c0009t0006g0165	4	448	0.0089	9	c.449 others(24): Show c.449-500_449-499insGGTGTATGA	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RAC2_chr22_37220270_37249269	37227515	A A	ACATCCCT others(2): Show ACATCCCTCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19240.hp1 NA21309.hp2 HG03098.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0003 a0001c0008t0003 a0001c0005t0003 a0001c0008t0003	a0001c0005t0003g0121 a0001c0005t0003g0134 a0001c0008t0003g0217 a0001c0005t0003g0121 a0001c0005t0003g0134 a0001c0008t0003g0217	3	448	0.0067	9	c.449 others(24): Show c.449-713_449-712insGGAGGGATG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RAC2_chr22_37220270_37249269	37245780	A A	AAATAATA others(2): Show AAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02559.hp2 HG02055.hp2 HG02280.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0002t0003g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0002t0003g0198	3	448	0.0067	9	c.-16 others(20): Show c.-1641_-1633dupATTATTATT	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding		1512		chr22	TogoVar
RACGAP1_chr12_49984162_50030494	49991480	T T	TATATATA others(2): Show TATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18948.hp2 NA18990.hp1 HG03710.hp1 NA18948.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0203 a0001c0001t0001g0223 a0001c0001t0001g0083 a0001c0001t0001g0203 a0001c0001t0001g0223	3	324	0.0093	9	c.171 others(26): Show c.1714+517_1714+518insTATATATAT	RACGAP1	ENSG00000161800.13	transcript	ENST00000312377.10	protein_coding	15/16			chr12	TogoVar
RACGAP1_chr12_49984162_50030494	49996628	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02155.hp1 HG02273.hp1 others(6): Show HG02027.hp1 HG02155.hp1 HG02273.hp1 HG02735.hp2 HG03927.hp1 NA18939.hp1 NA18952.hp2 NA19012.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0127 a0001c0001t0001g0139 others(6): Show a0001c0001t0001g0111 a0001c0001t0001g0127 a0001c0001t0001g0139 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0200 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0228	9	324	0.0278	9	c.104 others(26): Show c.1044+403_1044+411dupTTTTTTTTT	RACGAP1	ENSG00000161800.13	transcript	ENST00000312377.10	protein_coding	10/16			chr12	TogoVar
RACK1_chr5_181231897_181248906	181241426	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01074.hp2 HG01255.hp2 others(40): Show HG00597.hp1 HG01074.hp2 HG01255.hp2 HG02129.hp1 HG02155.hp2 HG02451.hp1 HG02451.hp2 HG03239.hp2 HG03453.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG04199.hp2 NA18942.hp2 NA18945.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA19001.hp2 NA19004.hp2 NA19007.hp1 NA19056.hp2 NA19065.hp2 NA19070.hp1 NA19077.hp1 NA19078.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0003c0006t0002	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0002g0002 others(7): Show a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0089 a0001c0001t0002g0098 a0001c0001t0002g0109 a0001c0001t0007g0079 a0003c0006t0002g0097	43	430	0.1000	9	c.429 others(22): Show c.429+57_429+65dupTTTTTTTTT	RACK1	ENSG00000204628.12	transcript	ENST00000512805.6	protein_coding	3/7			chr5	TogoVar
RAD18_chr3_8872075_8968472	8956750	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01257.hp2 HG01258.hp1 others(4): Show HG01106.hp1 HG01257.hp2 HG01258.hp1 HG02698.hp1 HG03453.hp2 HG04115.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0036 a0001c0001t0008 a0001c0001t0036	a0001c0001t0008g0031 a0001c0001t0008g0032 a0001c0001t0008g0033 others(4): Show a0001c0001t0008g0031 a0001c0001t0008g0032 a0001c0001t0008g0033 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0036 a0001c0001t0036g0260	7	348	0.0201	9	c.133 others(26): Show c.133+2161_133+2169dupTTTTTTTTT	RAD18	ENSG00000070950.10	transcript	ENST00000264926.7	protein_coding	2/12			chr3	TogoVar
RAD18_chr3_8872075_8968472	8967240	C C	CTTTTTTT others(2): Show CTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01070.hp2 others(9): Show HG01069.hp1 HG01070.hp1 HG01070.hp2 HG02258.hp1 HG02602.hp1 HG02698.hp2 HG02896.hp2 NA18942.hp1 NA18957.hp1 NA18984.hp2 NA18991.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0082 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0002g0198	12	348	0.0345	9	c.-38 others(20): Show c.-3856_-3855insAAAAAAAAA	RAD18	ENSG00000070950.10	transcript	ENST00000264926.7	protein_coding		3769		chr3	TogoVar
RAD21L1_chr20_1221044_1260876	1221412	C C	CTTTCTTT others(2): Show CTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01074.hp1 HG01109.hp1 others(23): Show HG01069.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01261.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01978.hp2 HG02071.hp1 HG02135.hp2 HG02258.hp1 HG02965.hp1 HG03239.hp2 HG03486.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18944.hp2 NA18954.hp2 NA18985.hp1 NA18985.hp2 NA19065.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0005 a0010c0014	a0001c0001t0003 a0002c0002t0002 a0002c0002t0007 others(5): Show a0001c0001t0003 a0002c0002t0002 a0002c0002t0007 a0002c0003t0002 a0003c0004t0003 a0003c0004t0006 a0004c0005t0003 a0010c0014t0002	a0001c0001t0003g0006 a0001c0001t0003g0046 a0001c0001t0003g0132 others(17): Show a0001c0001t0003g0006 a0001c0001t0003g0046 a0001c0001t0003g0132 a0001c0001t0003g0133 a0002c0002t0002g0004 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0074 a0002c0002t0002g0079 a0002c0002t0002g0088 a0002c0002t0007g0033 a0002c0003t0002g0009 a0002c0003t0002g0067 a0002c0003t0002g0106 a0003c0004t0003g0100 a0003c0004t0006g0099 a0004c0005t0003g0012 a0010c0014t0002g0052	26	364	0.0714	9	c.-47 others(20): Show c.-4761_-4760insTTTCTTTCT	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		4631		chr20	TogoVar

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